Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES636	WT	HH	HZ	NC
chr1	930248	930248	G	A	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon3:c.G703A:p.G235S,SAMD11:NM_001385641:exon3:c.G703A:p.G235S,SAMD11:NM_152486:exon3:c.G166A:p.G56S	.	405	1091	25	1	0	27	0.0122227	.	.	.	707587	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0035	0.00279553	0.0062	0.0014	0.0056	0	0.0065	0.0089	0.0106	0.0033	0.0031242	483	154602	rs41285790	0.0046	0.0046	0.0046	0.0046	0.0153	0.0045	0.0044	0.0127	0.0118	0.0008	0.0029	0.0020	0	0.0024	0.0153	0.0052	0.0045	0.0023	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0050	0.0048	0.0009	0	0.0050	0.0017	0.0002	0.0023	0.0272	0.0054	0.0047	0.0025	0.0	0.91255	D	0.124	0.52060	T	0.051	0.22415	B	0.014	0.16862	B	0.002037	0.37411	N	0.000000	0.989169	0.24328	N	2.015	0.55033	M	.	.	.	-3.66	0.70067	D	0.261	0.49602	-1.0342	0.19109	T	0.042	0.18035	T	9	0.008108735	0.00184	T	.	.	.	0.086	0.25016	.	.	0.181679512989	0.17746	0.10996691564054328	0.10925	0.00828984788232	0.00747	0.54737830162	0.45488	T	0.026762	0.23282	T	-0.428358	0.01517	T	-0.384358	0.35212	T	0.034906782148642	0.02792	T	0.905509	0.67324	D	0.24164094	0.47082	0.2990164	0.55935	0.24164094	0.47082	0.2990164	0.55935	-1.689	0.02200	T	.	.	0.093	0.41738	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.365661	0.30352	18.41	0.98576011050970014	0.43180	0.88396	0.48305	D	AEFBI	0.307974	0.41469	N	-0.463727063074097	0.23277	1.248835	-0.364106624471428	0.26076	1.438027	0.143156849761485	0.17310	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.13	2.22	0.27116	2.486000	0.44917	.	.	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1931:0.0:0.8069:0.0	8.724	0.33621	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017821	0.015957	0.020436	0.023669	0.050000	0.008621	0.015528	0.011450	0.08333	1428.83	33	chr1	930248	.	G	A	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.046;DP=279;ExcessHet=0;FS=1.614;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=1.22;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	5	0	1	0
chr1	939398	939398	-	CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	exonic	SAMD11	.	nonframeshift insertion	SAMD11:NM_001385640:exon7:c.1184_1185insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H399_D400insGEDPPWHDPPHHLPSH,SAMD11:NM_001385641:exon7:c.1181_1182insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H398_D399insGEDPPWHDPPHHLPSH,SAMD11:NM_152486:exon7:c.644_645insCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:p.H235_D236insGEDPPWHDPPHHLPSH	.	.	.	.	.	.	.	.	.	.	.	1153717	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0015	0.0116	0.0014	0.0014	0.0106	0.0102	0.0116	0.0012	0.0042	0.0018	0.0036	0.0023	0.0011	0.0027	0.0004	0.0026	0.0079	0.0025	0.0026	0.0089	0.0023	0.0023	0.0080	0.0076	0.0089	0.0055	0.0010	0.0006	0.0006	0.0006	0.0071	0.0008	0.0031	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1584.73	34	chr1	939398	.	G	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	1584.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.326;DP=614;ExcessHet=0.4139;FS=6.587;MLEAC=2;MLEAF=0.2;MQ=59.77;MQRankSum=-1.077;QD=16.68;ReadPosRankSum=-1.173;SOR=0.308	GT:AD:DP:GQ:PL	./.:145,0:145:0:0,0,3349	3	0	2	1
chr1	941225	941225	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon8:c.C1280T:p.T427M,SAMD11:NM_001385641:exon8:c.C1277T:p.T426M,SAMD11:NM_152486:exon8:c.C788T:p.T263M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.129232395047	.	.	1.687e-05	0	0	0	0	0	0	9.073e-05	6.5e-06	1	154602	rs771437009	3.45e-06	6.841e-06	4.114e-06	2.778e-06	7.664e-05	1.01e-06	7.4e-07	2.032e-05	1.063e-05	0	0	0	7.664e-05	0	0	9.036e-07	0	1.184e-05	6.568e-06	6.561e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.21	0.19639	T	0.021	0.61642	D	0.606	0.39465	P	0.201	0.36881	B	0.110248	0.19450	N	0.522894	0.999858	0.20048	N	1.04	0.26193	L	.	.	.	-1.93	0.44852	N	0.262	0.37923	-1.0744	0.08472	T	0.064	0.26562	T	9	0.17081559	0.31766	T	0.129232	0.81126	D	0.137	0.36984	0.145	0.04843	0.36076525451	0.35686	0.23963901106015126	0.23877	0.0254876186551	0.02602	0.776508450508	0.78402	T	0.010266	0.24264	T	-0.0749876	0.40528	T	-0.345491	0.39720	T	0.261455953121185	0.23378	T	0.883312	0.60567	D	0.054973535	0.10621	0.091657765	0.21561	0.054973535	0.10621	0.091657765	0.21561	-4.338	0.28706	T	.	.	0.142	0.45099	B	.;.;.;.	.;.;.;.	3.485187	0.48688	22.7	0.99396363145870226	0.62565	0.39973	0.26333	N	AEFDGBCI	0.214345	0.33982	N	-0.334371951219307	0.27851	1.531364	-0.367229716858319	0.25982	1.432187	0.999999994728456	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.22	3.3	0.36912	1.467000	0.34930	.	.	0.454000	0.21428	0.739000	0.29016	0.159000	0.23246	0.037000	0.13953	0.0:0.7977:0.0:0.2023	7.598	0.27226	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1109.06	40	chr1	941225	.	C	T	1109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=229;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.751;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,983	4	0	2	0
chr1	942150	942150	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon9:c.C1376T:p.P459L,SAMD11:NM_001385641:exon9:c.C1373T:p.P458L,SAMD11:NM_152486:exon9:c.C884T:p.P295L	.	.	.	.	.	.	.	.	.	.	.	2001305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.946660111203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331902306	1.651e-06	2.749e-05	1.641e-06	1.662e-06	1.048e-06	2.8e-07	1e-07	.	.	0	0	0	0	2.944e-05	0	1.048e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.471	0.36552	P	0.047	0.24832	B	0.000004	0.62929	U	0.000000	1	0.81001	D	2.475	0.71894	M	.	.	.	-4.56	0.78636	D	0.708	0.71143	-0.6701	0.61824	T	0.251	0.62039	T	9	0.5718491	0.65363	D	0.94666	0.99629	D	0.121	0.33580	0.144	0.04746	0.475352637851	0.47162	0.32240338262877094	0.32153	0.0302674356844	0.03124	0.832917332649	0.87010	D	0.191795	0.58887	T	0.0250785	0.55063	T	-0.201753	0.54480	T	0.993840038776398	0.84805	D	0.961304	0.85476	D	0.5535883	0.70155	0.56628466	0.74895	0.5535883	0.70156	0.56628466	0.74896	-7.59	0.58241	D	.	.	0.141	0.38372	B	.;.;.	.;.;.	5.107199	0.85365	28.6	0.99685401395383266	0.79574	0.35395	0.25292	N	ALL	0.297692	0.40720	N	-0.0619979157783452	0.39068	2.298042	-0.120639258027854	0.34558	1.989271	0.999999998829288	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.04	2.07	0.26004	3.302000	0.51557	.	.	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.8866:0.0:0.1134	10.104	0.41695	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	249.84	14	chr1	942150	.	C	T	249.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=97;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.67;SOR=1.27	GT:AD:DP:GQ:PL	0/1:10,11:21:99:260,0,208	5	0	1	0
chr1	966542	966542	G	C	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon1:c.G11C:p.S4T,PLEKHN1:NM_001367552:exon1:c.G11C:p.S4T,PLEKHN1:NM_032129:exon1:c.G11C:p.S4T	.	405	1107	7	0	3	10	0.00315173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0207760037869	.	0.00119808	0.0046	0.0003	0.0017	0	0.0059	0.0072	0.0064	0.0006	0.0040944	633	154602	rs62639980	0.0045	0.0045	0.0045	0.0045	0.0050	0.0044	0.0044	0.0049	0.0049	0.0005	0.0028	0.0092	2.527e-05	0.0055	0.0019	0.0050	0.0039	0.0006	0.0035	0.0035	0.0036	0.0033	0.0052	0.0032	0.0031	0.0045	0.0043	0.0008	0	0.0052	0.0066	0	0.0040	0	0.0050	0.0028	0.0008	0.17	0.23095	T	0.437	0.14241	T	0.974	0.62325	D	0.57	0.55529	P	0.018368	0.27499	N	0.255426	0.502046	0.31717	N	1.1	0.28011	L	0.92	0.44461	T	-0.94	0.27259	N	0.434	0.47301	-0.9769	0.35705	T	0.107	0.39051	T	10	0.0051721632	0.00112	T	0.020776	0.43441	T	0.040	0.10527	.	.	0.428976297845	0.42518	0.23599794954805256	0.23514	0.0307955421542	0.03189	0.618316173553	0.55491	T	0.010803	0.09719	T	-0.5573	0.00263	T	-0.570965	0.15361	T	0.0172385794546011	0.00466	T	0.762524	0.39120	T	0.11458244	0.27048	0.11857165	0.28621	0.11458244	0.27048	0.11857165	0.28621	-6.126	0.47322	T	.	.	0.138	0.42097	B	.;.;.	.;.;.	2.438306	0.31376	18.72	0.98250082840786079	0.39567	0.56072	0.30024	D	AEFDGBHCI	0.182062	0.30938	N	0.199806860656983	0.51190	3.302285	0.22039587023122	0.50980	3.284623	0.999999999842443	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.11	4.14	0.47821	0.169000	0.16457	.	.	0.676000	0.76740	0.004000	0.16614	1.000000	0.68203	0.857000	0.40602	0.0:0.1436:0.6889:0.1675	9.341	0.37238	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	640.83	41	chr1	966542	.	G	C	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.312;DP=237;ExcessHet=0;FS=2.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.944;SOR=0.334	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1150	5	0	1	0
chr1	970920	970920	G	A	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon6:c.G526A:p.A176T,PLEKHN1:NM_001367552:exon6:c.G526A:p.A176T,PLEKHN1:NM_032129:exon6:c.G526A:p.A176T	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0169038807728	0.0005	0.000798722	0.0007	0.0001	0.0006	0	0	0.0012	0.0014	0.0002	0.0006468	100	154602	rs199938541	0.0007	0.0007	0.0007	0.0007	0.0188	0.0007	0.0007	0.0159	0.0148	0.0007	0.0012	7.667e-05	0	1.98e-05	0.0188	0.0007	0.0014	0.0004	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0.0238	0.0008	0.0033	0.0002	0.243	0.17526	T	0.806	0.05221	T	0.129	0.27048	B	0.067	0.27542	B	0.128468	0.18730	N	0.498778	0.536152	0.32015	D	0.755	0.19153	N	1.0	0.44461	T	-1.1	0.30762	N	0.197	0.24260	-1.0257	0.21853	T	0.034	0.14552	T	10	0.015224665	0.00320	T	0.016904	0.38370	T	0.051	0.14325	.	.	0.242244723065	0.23846	0.1349724151031562	0.13421	0.0105160160037	0.00971	0.466817080975	0.34245	T	.	.	.	-0.593498	0.00160	T	-0.665828	0.07878	T	0.0144888740961386	0.00295	T	0.683132	0.29593	T	0.04105313	0.05974	0.06637987	0.13589	0.04105313	0.05974	0.06637987	0.13588	-5.319	0.41747	T	.	.	0.085	0.19276	B	.;.;.	.;.;.	1.119071	0.15045	11.54	0.96769552290205041	0.31031	0.27265	0.23228	N	AEFBI	0.153733	0.27865	N	-0.791868961356908	0.13520	0.6666728	-0.681748089465661	0.17417	0.9260341	0.977363334278084	0.29814	0.554377	0.28877	0	0.588066	0.40923	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.74	3.83	0.43287	-0.182000	0.09720	.	.	0.665000	0.62972	0.000000	0.06391	0.216000	0.23679	0.022000	0.11911	0.0961:0.179:0.7248:0.0	6.702	0.22419	906	0.23090	Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.015306	0.020436	0.032544	0.000000	0.008621	0.009146	0.000000	0.08333	535.83	33	chr1	970920	.	G	A	535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.824;DP=218;ExcessHet=0;FS=5.138;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.58;SOR=0.378	GT:AD:DP:GQ:PL	0/1:16,19:35:99:546,0,459	5	0	1	0
chr1	973549	973549	C	T	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon12:c.C1238T:p.S413L,PLEKHN1:NM_001367552:exon13:c.C1379T:p.S460L,PLEKHN1:NM_032129:exon13:c.C1343T:p.S448L	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0117377315164	0.0040	0.00119808	0.0043	0.0004	0.0010	0.0001	0.0054	0.0069	0.0045	0.0005	0.0041267	638	154602	rs142080242	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0042	0.0047	0.0047	0.0005	0.0025	0.0093	5.038e-05	0.0054	0.0007	0.0048	0.0036	0.0006	0.0033	0.0033	0.0032	0.0033	0.0047	0.0030	0.0030	0.0043	0.0041	0.0008	0.0044	0.0045	0.0066	0.0002	0.0039	0	0.0047	0.0028	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.435090	0.04727	N	1.357640	1	0.08975	N	-0.405	0.02972	N	1.27	0.36691	T	0.18	0.05035	N	0.077	0.05162	-1.0218	0.23129	T	0.022	0.09375	T	10	0.005976379	0.00134	T	0.011738	0.29664	T	0.006	0.00375	.	.	0.17948927462	0.17512	0.09610798066425576	0.09542	0.00976555014927	0.00889	0.296640098095	0.09902	T	0.002954	0.02350	T	-0.665975	0.00058	T	-0.727207	0.04455	T	4.62566349597182e-05	0.00000	T	0.711829	0.32321	T	0.03144104	0.02984	0.031907957	0.01847	0.03144104	0.02983	0.031907957	0.01847	-3.785	0.20581	T	.	.	0.068	0.17615	B	.;.;.;.	.;.;.;.	-0.379599	0.02290	0.240	0.67377652319566739	0.08337	0.00191	0.01107	N	AEFBI	0.034405	0.04254	N	-1.35736161754065	0.03049	0.1356096	-1.32576792496844	0.04100	0.1926868	0.00493350192845008	0.10768	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.699875	0.68795	0	.	.	4.72	-0.92	0.09942	-1.367000	0.02689	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4522:0.0:0.5478	8.274	0.31020	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1585.83	38	chr1	973549	.	C	T	1585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=319;ExcessHet=0;FS=1.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.783;SOR=0.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr1	1043684	1043684	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon9:c.G1750A:p.A584T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.299979774039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329380952	9.665e-06	1.026e-05	8.249e-06	1.109e-05	8.964e-05	5.61e-06	4.39e-06	2.375e-05	1.258e-05	8.964e-05	6.709e-05	0	2.52e-05	0	0	5.397e-06	0	1.159e-05	3.942e-05	3.94e-05	0	8.069e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	0.0001	0	0	0	0	2.94e-05	0	0.0004	0.048	0.40068	D	0.084	0.41239	T	.	.	.	.	.	.	0.000335	0.45700	D	0.084069	0.999998	0.58761	D	2.31	0.66127	M	-1.15	0.77964	T	-2.24	0.50175	N	0.581	0.60241	0.199	0.85898	D	0.562	0.84087	D	10	0.6609792	0.70151	D	0.29998	0.90849	D	0.559	0.81888	0.624	0.75916	0.835460036063	0.83389	0.5625739280771369	0.56184	0.446594921837	0.44532	0.682146966457	0.64577	T	.	.	.	-0.0932921	0.37533	T	-0.174141	0.57063	T	0.43614387512207	0.30287	T	0.943606	0.78679	D	.	.	.	.	.	.	.	.	-9.661	0.71857	D	.	.	0.485	0.63914	A	.;.	.;.	4.190577	0.63158	24.5	0.99865887251198127	0.94366	0.97752	0.76876	D	AEFBHI	0.661063	0.63142	D	0.443706177849099	0.63845	4.626508	0.344769211381133	0.58193	3.988466	0.999998619089316	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	4.286000	0.58788	8.451000	0.77220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0:0.0:1.0:0.0	16.548	0.84305	940	0.13648	.;Kazal domain|Kazal domain|Factor I / membrane attack complex|Kazal 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	.	.	.	.	.	.	.	.	0.08333	1477.83	45	chr1	1043684	.	G	A	1477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.297;DP=300;ExcessHet=0;FS=2.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.51;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	5	0	1	0
chr1	1180802	1180802	C	T	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_153254:exon4:c.C478T:p.R160W,TTLL10:NM_001130045:exon8:c.C697T:p.R233W,TTLL10:NM_001371649:exon8:c.C697T:p.R233W	.	346	1175	1	0	0	1	0.000425351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	.	0.0048	0.00359425	0.0018	0.0198	0.0009	0.0002	0	5.303e-05	0.0021	0	0.0011643	180	154602	rs58991788	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0159	0.0176	0.0010	0	7.748e-05	0	0.0007	3.429e-05	0.0009	3.565e-05	0.0044	0.0045	0.0044	0.0044	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0018	0	0	0	0	7.354e-05	0.0043	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.449686	0.04807	U	100.696000	0.957576	0.38031	D	2.81	0.81869	M	0.77	0.49642	T	-6.7	0.93974	D	0.502	0.60495	-0.6917	0.60829	T	0.182	0.52904	T	10	0.009550244	0.00215	T	.	.	.	0.217	0.51112	.	.	0.596207158177	0.59299	0.723371012627956	0.72281	0.222601749021	0.24794	0.471951246262	0.34948	T	0.100411	0.40618	T	-0.415396	0.01831	T	-0.356491	0.38458	T	0.0785001387673214	0.09795	T	0.685431	0.29402	T	0.18318756	0.39574	0.20711806	0.44957	0.18318756	0.39574	0.20711806	0.44956	-7.02	0.56160	T	.	.	0.494	0.64306	A	.;.;.	.;.;.	2.881118	0.38127	20.7	0.99688896651801551	0.79775	0.88019	0.47768	D	AEFDBI	0.622973	0.60709	D	-0.134075583550035	0.35915	2.069061	-0.320382928145505	0.27441	1.522688	0.995050228482667	0.33929	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.82	-0.196	0.12582	-0.056000	0.11744	-0.205000	0.10907	-1.006000	0.01785	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.2062:0.7938:0.0:0.0	13.134	0.58817	789	0.46346	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003033	0.000000	0.008174	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	1122.83	33	chr1	1180802	.	C	T	1122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.56;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.712;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	5	0	1	0
chr1	1197693	1197693	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.G1868A:p.R623Q,TTLL10:NM_001371649:exon16:c.G1868A:p.R623Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00119808	0.0002	0.0115	0	0	0	0	0	0	8.41e-05	13	154602	rs540494380	0.0001	0.0002	0.0002	0.0001	0.0049	0.0001	0.0001	0.0042	0.0039	0.0049	0.0004	0	0	0	0.0002	1.685e-05	0.0004	2.6e-05	0.0013	0.0013	0.0013	0.0013	0.0042	0.0011	0.0011	0.0036	0.0035	0.0042	0	0.0008	0	0	0	0	8.839e-05	0.0024	0	0.621	0.05293	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.41	0.05574	T	-0.06	0.07882	N	0.104	0.08786	-0.9263	0.44673	T	0.008	0.02638	T	9	0.003916651	0.00075	T	.	.	.	0.006	0.00375	0.279	0.23323	0.0482279557977	0.04254	0.16068323940891086	0.15989	0.0293251823611	0.03019	0.652493238449	0.60339	T	0.001834	0.01251	T	-0.698371	0.00037	T	-0.774985	0.02608	T	0.00213678864471114	0.00022	T	0.520648	0.16939	T	0.021815624	0.00805	0.033883795	0.02359	0.021815624	0.00805	0.033883795	0.02358	-3.605	0.17929	T	.	.	0.071	0.04764	B	.;.	.;.	-0.143235	0.03393	0.611	0.70180460301065828	0.09212	0.00254	0.01397	N	AEFBI	0.021062	0.00898	N	-1.92391088616146	0.00306	0.01316326	-2.00637065459842	0.00297	0.0131155	0.844110369831772	0.24921	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.37	-4.75	0.03003	-0.507000	0.06434	-1.825000	0.04657	-1.531000	0.00992	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3483:0.2844:0.3674:0.0	4.969	0.13456	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002506	0.000000	0.000000	0.009346	0.000000	0.000000	0.000000	0.000000	0.08333	614.83	23	chr1	1197693	.	G	A	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.026;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:71:.:.:0,71,767:.	5	0	1	0
chr1	1286109	1286110	AA	-	exonic	SCNN1D	.	frameshift deletion	SCNN1D:NM_001130413:exon7:c.742_743del:p.K248Dfs*24	.	18	1492	11	1	0	13	0.00433767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00219649	0.0020	0	0.0007	0	0	0.0007	0.0054	0.0098	0.0001153	3	26028	rs555847974	0.0006	0.0006	0.0004	0.0008	0.0060	0.0006	0.0006	0.0056	0.0054	5.977e-05	0.0003	0.0006	0	0.0001	0.0024	0.0003	0.0010	0.0060	0.0005	0.0005	0.0004	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.216e-05	0	0.0010	0.0003	0	0.0003	0	0.0004	0.0014	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002020	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2940.79	36	chr1	1286108	.	CAA	C	2940.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.181;DP=327;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=-0.744;SOR=0.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	5	0	1	0
chr1	1332964	1332964	T	A	exonic	TAS1R3	.	nonsynonymous SNV	TAS1R3:NM_152228:exon4:c.T1319A:p.L440Q	.	418	1090	13	1	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	.	0.0005	0.00219649	0.0018	0	0.0004	0	0	0.0005	0.0059	0.0102	0.0014683	227	154602	rs142484921	0.0008	0.0008	0.0005	0.0010	0.0086	0.0007	0.0007	0.0081	0.0079	5.977e-05	0.0002	0.0006	0	0.0001	0.0023	0.0003	0.0010	0.0086	0.0005	0.0005	0.0003	0.0008	0.0079	0.0004	0.0004	0.0059	0.0052	7.215e-05	0	0.0007	0.0003	0	0.0003	0	0.0004	0.0014	0.0079	0.543	0.06735	T	0.426	0.13872	T	0.008	0.14655	B	0.018	0.18489	B	0.649774	0.10524	N	0.842053	1	0.08975	N	0.93	0.23535	L	-2.01	0.85468	D	0.27	0.04306	N	0.301	0.34012	-0.8457	0.52263	T	0.316	0.68558	T	10	0.0041508377	0.00082	T	.	.	.	0.382	0.69946	.	.	0.173771789658	0.16945	0.2936477550611099	0.29277	.	.	0.326515614986	0.14407	T	0.045863	0.27251	T	-0.321166	0.06803	T	-0.226433	0.52115	T	0.0116710130665213	0.00178	T	0.589541	0.21661	T	0.06947239	0.15223	0.06586882	0.13410	0.06947239	0.15223	0.06586882	0.13410	-2.55	0.06132	T	.	.	0.089	0.12132	B	.	.	0.117180	0.05153	1.675	0.58548748073998602	0.06018	0.07140	0.13165	N	AEFDBHCI	0.039746	0.05816	N	-1.03287501319859	0.07928	0.3699718	-1.03306780746201	0.09063	0.4488601	0.999999679210477	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.664235	0.64389	0	.	.	4.8	2.36	0.28258	0.540000	0.22900	0.297000	0.16936	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3665:0.0834:0.141:0.4091	1.550	0.02418	774	0.48577	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2274.83	67	chr1	1332964	.	T	A	2274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.04;DP=535;ExcessHet=0;FS=1.841;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.362;SOR=0.551	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1475	5	0	1	0
chr1	1419464	1419464	C	T	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001375659:exon2:c.G295A:p.E99K,ANKRD65:NM_001243535:exon3:c.G295A:p.E99K,ANKRD65:NM_001145210:exon4:c.G836A:p.R279Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00698882	0.0036	0.0354	0	0.0050	0	0.0005	0.0062	0	0.0010155	157	154602	rs140747215	0.0013	0.0012	0.0014	0.0012	0.0296	0.0012	0.0012	0.0281	0.0274	0.0296	0.0034	0.0014	0.0003	0	0.0035	0.0004	0.0027	0.0002	0.0087	0.0087	0.0088	0.0085	0.0288	0.0083	0.0081	0.0275	0.0269	0.0288	0	0.0048	0.0006	0.0010	0	0.0068	0.0004	0.0052	0.0004	0.591	0.05790	T	0.593	0.08134	T	0.029	0.19866	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	-0.14	0.65006	T	-0.38	0.13418	N	0.068	0.04547	-1.0495	0.14537	T	0.070	0.28478	T	9	0.01231432	0.00265	T	.	.	.	0.048	0.13305	.	.	0.0297737177859	0.01360	0.05546644931200325	0.05487	.	.	0.624931454659	0.56426	T	0.001333	0.00808	T	-0.564453	0.00239	T	-0.558507	0.16517	T	0.00898527676177946	0.00112	T	0.888211	0.61727	D	0.020212583	0.00573	0.0328747	0.02092	0.020212583	0.00573	0.0328747	0.02091	-4.62	0.32422	T	.	.	0.119	0.24464	B	.;.	.;.	2.537691	0.32823	19.16	0.84682556343925064	0.15435	0.05742	0.11669	N	AEFBCI	0.075427	0.15147	N	-1.1807445513304	0.05291	0.2408683	-1.18225379507058	0.06206	0.2979998	0.997610418108631	0.35820	0.653281	0.48532	0	0.659037	0.61890	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.74	1.63	0.22882	0.492000	0.22144	0.932000	0.22787	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6843:0.2073:0.1084	9.294	0.36965	889	0.27310	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012563	0.041667	0.000000	0.009259	0.000000	0.000000	0.000000	0.000000	0.08333	855.83	40	chr1	1419464	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=230;ExcessHet=0;FS=5.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-1.298;SOR=1.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1251	5	0	1	0
chr1	1457167	1457167	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon8:c.G728A:p.R243Q	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0232771003864	0.0002	.	0.0001	0.0002	8.646e-05	0	0	0.0001	0	0.0004	0.00011	17	154602	rs375870663	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	8.961e-05	8.945e-05	0	2.519e-05	0	0.0003	0.0005	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	9.659e-05	0	0	0	0	0	0	0.0003	0.0005	0.0002	0.142	0.25457	T	0.183	0.29153	T	0.811	0.45403	P	0.358	0.43079	B	0.000000	0.84330	D	0.049780	0.99947	0.47197	D	1.555	0.39373	L	-3.18	0.93111	D	-3.46	0.67705	D	0.616	0.63204	0.161	0.85244	D	0.703	0.89761	D	10	0.5079043	0.61926	D	0.023277	0.46232	T	0.420	0.72930	.	.	0.889129095286	0.88803	0.19458471696654517	0.19376	0.0383716600576	0.04084	0.737088739872	0.72544	T	0.303705	0.67604	T	-0.135868	0.30548	T	-0.140793	0.60049	T	0.126687534869073	0.15073	T	0.909209	0.67884	D	0.3294789	0.55428	0.18205051	0.41106	0.3294789	0.55428	0.18205051	0.41106	-9.779	0.72577	D	.	.	0.085	0.09965	B	.	.	4.198855	0.63341	24.6	0.9841948681184679	0.41266	0.95912	0.66691	D	AEFBI	0.485047	0.52480	N	-0.39955595020491	0.25484	1.383773	-0.51080894084495	0.21859	1.184542	0.046663249300358	0.14699	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.52	1.58	0.22557	8.777000	0.91421	5.704000	0.49392	0.471000	0.21939	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7873:0.2127	9.502	0.38189	862	0.33134	ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1592.83	40	chr1	1457167	.	G	A	1592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=307;ExcessHet=0;FS=0.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.633;SOR=0.629	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1603,0,1265	5	0	1	0
chr1	1482207	1482207	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon4:c.C446T:p.A149V,ATAD3B:NM_031921:exon6:c.C584T:p.A195V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00459265	0.0026	0	0.0004	0.0327	0	6.514e-05	0	0.0010	0.0021216	328	154602	rs181312132	0.0009	0.0009	0.0009	0.0009	0.0286	0.0009	0.0009	0.0272	0.0267	2.99e-05	0.0003	0	0.0286	0	0.0013	3.599e-05	0.0010	0.0010	0.0010	0.0010	0.0008	0.0012	0.0265	0.0009	0.0008	0.0229	0.0215	0	0	0.0004	0	0.0265	0	0	5.886e-05	0	0.0008	0.118	0.28148	T	0.17	0.30436	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	0.35	0.58029	T	-3.24	0.65171	D	0.639	0.65159	-0.3759	0.72780	T	0.215	0.57639	T	10	0.009803563	0.00220	T	.	.	.	0.273	0.58883	.	.	0.766210966302	0.76407	0.1659965038648546	0.16519	1.54287570271	0.87751	0.782790541649	0.79349	T	0.114583	0.43251	T	-0.318744	0.07001	T	-0.207633	0.53922	T	0.121414711973613	0.14567	T	0.967503	0.88224	D	0.22437184	0.45078	0.18318431	0.41292	0.22437184	0.45078	0.18318431	0.41291	-10.458	0.76605	D	.	.	.	.	.	.	.	4.545635	0.71494	25.7	0.99884703569161259	0.96049	0.98693	0.85659	D	AEFBI	0.612589	0.60060	D	0.31101606608982	0.56714	3.836532	0.0829803154257199	0.43692	2.665816	0.99967153748467	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.38	2.38	0.28415	7.403000	0.79217	7.567000	0.60617	0.415000	0.20742	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:1.0:0.0:0.0	12.141	0.53300	856	0.34373	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2179.83	38	chr1	1482207	.	C	T	2179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.226;DP=379;ExcessHet=0;FS=7.891;MLEAC=1;MLEAF=0.083;MQ=53.71;MQRankSum=-2.771;QD=12.98;ReadPosRankSum=-3.847;SOR=0.888	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,106,1302	5	0	1	0
chr1	1632367	1632367	C	T	exonic	MMP23B	.	nonsynonymous SNV	MMP23B:NM_006983:exon1:c.C149T:p.A50V	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.199010926694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.092e-06	9.577e-06	7.879e-06	8.317e-06	0.0006	4.09e-06	2.98e-06	0.0001	4.21e-05	4.196e-05	0	0	0	0	0.0006	5.915e-06	1.965e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.91255	T	0.292	0.92824	T	0.0	0.12996	B	0.001	0.10090	B	0.111471	0.02643	U	2.132630	1	0.08975	N	0.46	0.12951	N	1.81	0.32238	T	-0.69	0.71639	N	0.087	0.07398	-1.0233	0.22638	T	0.043	0.18535	T	10	0.111730516	0.20933	T	0.199011	0.86628	D	0.014	0.01968	0.394	0.41935	0.148003135375	0.14442	0.368091405957344	0.36723	.	.	0.782355427742	0.79284	T	0.09337	0.39196	T	-0.187883	0.22570	T	-0.507657	0.21557	T	0.041832622140646	0.04024	T	0.531447	0.20620	T	0.041243166	0.06037	0.0429006	0.05217	0.041243166	0.06037	0.0429006	0.05217	-5.135	0.38274	T	.	.	0.087	0.56065	B	.;.;.	.;.;.	0.974860	0.13522	10.04	0.92315899344041519	0.21709	0.01811	0.05641	N	AEFDBI	0.089174	0.18075	N	-1.0719878594101	0.07163	0.3319338	-1.133577423688	0.07066	0.3423594	0.999555360697297	0.40362	0.65757	0.49021	0	0.578056	0.33634	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	2.93	-0.523	0.11329	0.288000	0.18695	-0.307000	0.10069	0.500000	0.22704	0.002000	0.15269	0.000000	0.08366	0.060000	0.15972	0.169:0.4555:0.1469:0.2286	1.636	0.02577	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	118.85	11	chr1	1632367	.	C	T	118.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.366;DP=55;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.231;SOR=1.179	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	5	0	1	0
chr1	1676480	1676480	G	A	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon2:c.C220T:p.R74W,SLC35E2B:NM_001290264:exon3:c.C220T:p.R74W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.32635292897	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs756125270	0.0003	0.0002	0.0003	0.0003	0.0021	0.0003	0.0002	0.0013	0.0012	0.0005	0.0017	0.0002	0	0	0.0021	0.0002	0.0008	0	0.0004	0.0008	0.0002	0.0007	0.0023	0.0003	0.0003	0.0014	0.0011	0.0004	0	0.0023	0	0	0	0.0143	0.0001	0.0014	0	.	.	.	0.003	0.76473	D	0.999	0.77913	D	0.724	0.55036	P	0.000146	0.49130	D	0.137159	0.994045	0.23598	N	2.28	0.64929	M	.	.	.	.	.	.	0.457	0.50508	0.289	0.87378	D	0.796	0.93093	D	10	0.06439754	0.08534	T	0.326353	0.91624	D	.	.	0.613	0.74652	0.043077524339	0.03247	0.5514944285286478	0.55075	.	.	0.580174326897	0.50111	T	0.23438	0.60140	T	0.133886	0.67737	D	-0.0454578	0.67332	D	0.101737764583198	0.12548	T	0.950805	0.82551	D	0.16428939	0.36626	0.2081214	0.45100	0.16428939	0.36626	0.2081214	0.45099	-7.282	0.56067	T	.	.	0.185	0.40098	B	.;.;.	.;.;.	3.722679	0.53211	23.3	0.99848895571267926	0.92838	0.76479	0.37512	D	AEFDGI	0.380045	0.46283	N	0.0201440672315093	0.42772	2.583453	-0.129247866924117	0.34216	1.965766	0.523781285082019	0.21118	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.75	1.6	0.22686	2.293000	0.43219	1.054000	0.23662	0.671000	0.69459	1.000000	0.71638	0.293000	0.24176	0.588000	0.31090	0.0:0.0:0.5434:0.4566	11.677	0.50700	707	0.57054	Sugar phosphate transporter domain;Sugar phosphate transporter domain;Sugar phosphate transporter 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	.	.	.	.	.	.	.	.	0.08333	113.95	3	chr1	1676480	.	G	A	113.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=51;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=9.5;ReadPosRankSum=1.03;SOR=0.136	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,457	5	0	1	0
chr1	2303002	2303002	A	G	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon2:c.A994G:p.I332V	Shprintzen-Goldberg syndrome, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	498383	Shprintzen-Goldberg_syndrome|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0775763579582	7.7e-05	0.000599042	0.0005	0	8.646e-05	0	0	0.0001	0.0011	0.0031	0.0004269	66	154602	rs374264201	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	2.987e-05	0.0002	0	0	0	0.0029	7.734e-05	0.0003	0.0035	0.0002	0.0002	5.139e-05	0.0003	0.0037	0.0001	8.712e-05	0.0024	0.0020	0	0	0	0	0	0	0.0068	4.411e-05	0	0.0037	0.883	0.02526	T	0.524	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.002127	0.37183	N	0.243553	1	0.08975	N	1.7	0.43825	L	-3.71	0.95387	D	0.05	0.06369	N	0.113	0.10056	-0.3457	0.73678	T	0.618	0.86510	D	10	0.0066333413	0.00150	T	0.077576	0.72804	D	0.183	0.45592	.	.	0.377493895363	0.37364	0.1677311722210252	0.16693	0.165890362005	0.18718	0.49287623167	0.37837	T	0.233545	0.60037	T	-0.386068	0.02851	T	-0.327857	0.41708	T	0.0132491707428756	0.00236	T	0.655934	0.26583	T	0.01160226	0.00019	0.020436954	0.00136	0.01160226	0.00019	0.020436954	0.00136	-2.378	0.05000	T	.	.	0.058	0.00717	B	.	.	0.465129	0.08349	5.099	0.77252371201563697	0.11799	0.68202	0.33713	D	AEFDBCI	0.080514	0.16280	N	-0.573359457152021	0.19757	1.036516	-0.456975285758591	0.23351	1.272968	0.998370341370053	0.36850	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.86	-0.499	0.11416	1.781000	0.38274	-0.170000	0.11235	0.738000	0.86027	0.998000	0.41325	0.001000	0.17328	0.996000	0.76049	0.5076:0.3155:0.1769:0.0	4.591	0.11697	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	796.83	34	chr1	2303002	.	A	G	796.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.243;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.249;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	1	0
chr1	2303352	2303352	C	T	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon3:c.C1163T:p.A388V	Shprintzen-Goldberg syndrome, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	209463	not_specified|not_provided|Shprintzen-Goldberg_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.241	0.194164771034	0.0041	0.00179712	0.0038	0.0011	0.0033	0.0001	0.0005	0.0061	0.0078	0.0002	0.0040232	622	154602	rs75280988	0.0058	0.0058	0.0061	0.0056	0.0067	0.0057	0.0057	0.0066	0.0065	0.0013	0.0045	0.0145	2.519e-05	0.0009	0.0021	0.0067	0.0066	0.0003	0.0040	0.0040	0.0043	0.0037	0.0074	0.0037	0.0036	0.0063	0.0059	0.0011	0	0.0074	0.0144	0	0.0004	0.0136	0.0057	0.0038	0.0002	0.301	0.14449	T	0.295	0.20680	T	0.384	0.34453	B	0.023	0.19966	B	0.602552	0.10944	N	0.812403	1	0.08975	N	1.175	0.29870	L	-3.81	0.95728	D	-0.99	0.26200	N	0.35	0.39153	-0.3036	0.74885	T	0.592	0.85430	D	10	0.008442789	0.00191	T	0.194165	0.86346	D	0.241	0.54641	.	.	0.572214113933	0.56889	0.3158012457443028	0.31493	0.202318093079	0.22652	0.4415769279	0.30793	T	0.279139	0.65181	T	-0.320214	0.06880	T	-0.228597	0.51907	T	0.00751728201366057	0.00087	T	0.806319	0.45525	T	0.020881847	0.00664	0.03194004	0.01855	0.020881847	0.00664	0.03194004	0.01855	-4.422	0.29853	T	.	.	0.08	0.07793	B	.	.	2.647634	0.34467	19.63	0.97362183186109652	0.33578	0.71584	0.35077	D	AEFBCI	0.404193	0.47758	N	-0.753518133954632	0.14538	0.7250071	-0.758716762254785	0.15509	0.8159668	0.999860507074493	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	3.15	0.35301	5.378000	0.65942	4.718000	0.44490	-0.192000	0.09343	0.407000	0.26226	0.483000	0.25112	0.020000	0.11549	0.1699:0.8301:0.0:0.0	12.370	0.54579	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1151.83	45	chr1	2303352	.	C	T	1151.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=274;ExcessHet=0;FS=4.113;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.171;SOR=1.237	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	1	0
chr1	2304397	2304397	G	C	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon5:c.G1579C:p.D527H	Shprintzen-Goldberg syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.283220222917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.141e-07	2.052e-06	1.41e-06	0	9.258e-07	0	0	.	.	0	0	0	0	0	0	9.258e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.105	0.38016	T	0.612	0.39723	P	0.236	0.38470	B	0.460676	0.12396	N	0.742997	0.550273	0.32127	D	0.695	0.17993	N	-3.79	0.95663	D	-1.3	0.32590	N	0.153	0.15749	0.506	0.90625	D	0.685	0.89118	D	10	0.2728582	0.44832	T	0.28322	0.90305	D	0.281	0.59861	0.139	0.04277	0.502596446142	0.49897	0.1443985642539805	0.14362	0.572780178099	0.53354	0.494267046452	0.38031	T	0.281984	0.65472	T	0.0562007	0.59135	T	-0.157048	0.58617	T	0.421609222870986	0.29750	T	0.457954	0.13172	T	0.14006032	0.32329	0.12400554	0.29895	0.14006032	0.32329	0.12400554	0.29894	-4.696	0.33355	T	.	.	0.121	0.25265	B	.	.	3.393312	0.46987	22.4	0.986296159809956	0.43893	0.96791	0.70958	D	AEFDBI	0.331020	0.43088	N	-0.279196219815757	0.29952	1.66567	-0.257589450555274	0.29510	1.653917	0.999999999926703	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	4.37	0.51830	3.285000	0.51421	7.581000	0.60964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	16.053	0.80581	940	0.13648	.	.	.	.	.	.	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	715.83	38	chr1	2304397	.	G	C	715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.557;DP=239;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.533;SOR=0.831	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1147	5	0	1	0
chr1	2502827	2502827	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon21:c.C3296T:p.P1099L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0234288247771	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767690024	2.302e-05	2.067e-05	1.923e-05	2.625e-05	0.0007	1.284e-05	9.89e-06	0.0002	0.0001	0	0	0	0	2.098e-05	0.0007	2.208e-05	6.518e-05	0	2.629e-05	2.627e-05	3.854e-05	1.346e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.649	0.04864	T	0.337	0.18178	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.656762	0.33014	D	.	.	.	2.14	0.19450	T	0.0	0.07008	N	0.123	0.11483	-0.9970	0.30755	T	0.028	0.12014	T	8	0.042176396	0.02942	T	0.023429	0.46390	T	0.012	0.01476	0.313	0.28774	0.398872588132	0.39498	.	.	0.220778280987	0.24628	.	.	.	.	.	.	-0.401019	0.02280	T	-0.698858	0.05888	T	0.0175592929253523	0.00490	T	.	.	.	.	.	.	.	.	.	.	.	-2.785	0.08046	T	.	.	0.095	0.14797	B	.	.	2.341816	0.30010	18.30	0.42186066367985836	0.03093	0.19586	0.20718	N	AEFDBCI	0.079977	0.16163	N	-0.646953456632857	0.17549	0.9039694	-0.614731343520293	0.19114	1.02415	0.333814746411767	0.19513	0.679555	0.55442	0	0.514364	0.08380	0	0.600882	0.32295	2	0.604944	0.38103	0	.	.	4.08	-0.133	0.12827	0.625000	0.24171	1.190000	0.24759	0.535000	0.24933	0.969000	0.34210	0.542000	0.25421	0.619000	0.31870	0.2186:0.492:0.0:0.2894	4.529	0.11402	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	544.83	36	chr1	2502827	.	C	T	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.797;SOR=0.833	GT:AD:DP:GQ:PL	0/1:30,22:52:99:555,0,779	5	0	1	0
chr1	2591579	2591579	C	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon23:c.G2218A:p.V740I	.	.	.	.	.	.	.	.	.	.	.	2379949	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.135505680942	.	.	6.609e-05	0	0.0002	0	0	7.528e-05	0	6.056e-05	8.41e-05	13	154602	rs199987335	6.705e-05	6.772e-05	5.855e-05	7.565e-05	0.0004	5.63e-05	5.173e-05	0.0002	0.0002	2.987e-05	0.0004	0.0022	2.519e-05	1.876e-05	0	1.169e-05	9.938e-05	2.319e-05	7.924e-05	7.896e-05	3.87e-05	0.0001	0.0002	4.517e-05	3.529e-05	5.313e-05	2.842e-05	0	0	0.0002	0.0020	0.0002	0	0	1.472e-05	0	0	0.048	0.40068	D	0.132	0.35330	T	0.52	0.37518	P	0.11	0.31460	B	0.000667	0.42516	D	0.205916	0.988738	0.40818	D	2.375	0.68372	M	-2.78	0.90962	D	-0.86	0.23372	N	0.485	0.53708	0.391	0.88967	D	0.652	0.87889	D	10	0.25709093	0.43121	T	0.135506	0.81796	D	0.430	0.73662	0.623	0.75803	0.702066023234	0.69948	0.24221931732961025	0.24135	0.216576055188	0.24181	0.642463028431	0.58914	T	0.548083	0.84647	D	-0.213658	0.18866	T	-0.228525	0.51916	T	0.0382637078585022	0.03379	T	0.927707	0.73352	D	0.103715405	0.24515	0.12031997	0.29037	0.103715405	0.24514	0.12031997	0.29037	-11.354	0.87712	D	.	.	0.101	0.23395	B	.;.;.	.;.;.	3.269897	0.44751	22.0	0.98204484608520815	0.39149	0.91389	0.53435	D	AEFDBI	0.447465	0.50310	N	0.0132862736316442	0.42458	2.558635	-0.00556254424666146	0.39465	2.340258	0.999671319761414	0.41644	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.87	3.87	0.43823	3.328000	0.51766	3.007000	0.35945	0.524000	0.24156	0.998000	0.41325	0.996000	0.32793	0.437000	0.27605	0.0:1.0:0.0:0.0	12.687	0.56321	835	0.38313	Peptidase M13, C-terminal domain;Peptidase M13, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	603.83	34	chr1	2591579	.	C	T	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=223;ExcessHet=0;FS=1.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.357;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	5	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006559	0.005051	0.000000	0.008824	0.000000	0.017241	0.006135	0.018939	0.1667	1519.06	36	chr1	2591992	.	G	T	1519.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.851;DP=265;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.17;SOR=1.052	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	4	0	2	0
chr1	3463266	3463266	G	A	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon2:c.G182A:p.R61Q	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0077	0.00539137	0.0089	0.0179	0.0032	0	0.0536	0.0076	0.0118	0.0085	0.0019534	302	154602	rs183210126	0.0061	0.0058	0.0060	0.0062	0.0133	0.0060	0.0059	0.0123	0.0119	0.0133	0.0031	0.0080	0.0002	0.0114	0.0033	0.0057	0.0056	0.0086	0.0077	0.0077	0.0078	0.0075	0.0118	0.0073	0.0071	0.0110	0.0106	0.0118	0.0143	0.0037	0.0055	0	0.0121	0.0102	0.0057	0.0090	0.0091	0.284	0.15303	T	0.233	0.24913	T	0.117	0.26519	B	0.015	0.17295	B	0.000448	0.00607	U	11.129800	1	0.08975	N	0.895	0.22405	L	1.52	0.30669	T	0.4	0.03463	N	0.163	0.17140	-1.0675	0.09971	T	0.024	0.10194	T	10	0.0031102598	0.00052	T	.	.	.	0.017	0.02790	.	.	0.166414681773	0.16258	0.1614807613277844	0.16069	0.267356887122	0.29277	0.43732625246	0.30212	T	0.020221	0.15960	T	-0.66223	0.00061	T	-0.71105	0.05242	T	0.00490508218436153	0.00053	T	0.40026	0.10182	T	0.021309964	0.00727	0.025411656	0.00584	0.021309964	0.00726	0.025411656	0.00584	-2.815	0.08322	T	.	.	0.066	0.02200	B	.	.	0.045699	0.04605	1.276	0.98187500030910935	0.39001	0.05142	0.10952	N	AEFBI	0.125744	0.24238	N	-1.20472109155274	0.04930	0.2235891	-1.32168892620996	0.04151	0.1951726	0.103678025001434	0.16453	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	0.235	0.235	0.14697	-0.568000	0.06000	-2.114000	0.04192	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5879:0.4121:0.0	5.180	0.14481	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003883	0.011111	0.000000	0.000000	0.000000	0.000000	0.009901	0.000000	0.08333	742.83	33	chr1	3463266	.	G	A	742.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=234;ExcessHet=0;FS=2.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.395;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,30:62:99:753,0,759	5	0	1	0
chr1	5874953	5874953	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.G1429A:p.E477K,NPHP4:NM_001291593:exon18:c.G1426A:p.E476K,NPHP4:NM_015102:exon21:c.G2965A:p.E989K	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1514	6	2	0	10	0.00329164	.	.	.	192769	NPHP4-related_disorder|Nephronophthisis_4|Senior-Loken_syndrome_4|not_provided|Nephronophthisis	MedGen:CN239384|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.710	0.184847226584	0.0008	0.000399361	0.0004	0.0016	0.0005	0	0	0.0003	0.0011	0.0004	0.0003558	55	154602	rs116606479	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	0.0019	0.0004	0	5.038e-05	0	0.0031	0.0002	0.0005	0.0008	0.0006	0.0006	0.0007	0.0005	0.0017	0.0005	0.0005	0.0014	0.0013	0.0017	0	0.0005	0	0	9.414e-05	0	0.0002	0.0005	0.0004	0.011	0.55530	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	2.85	0.82803	M	-2.47	0.88997	D	-3.03	0.62747	D	0.88	0.87808	0.790	0.94293	D	0.818	0.93855	D	10	0.36386117	0.52946	T	0.184847	0.85775	D	0.710	0.89650	.	.	0.950601828321	0.95007	0.9570523849875564	0.95690	0.40685214115	0.41558	0.629665255547	0.57097	T	0.412867	0.76690	T	0.0349098	0.56376	T	0.271202	0.86638	D	0.0359958903912502	0.02980	T	0.941106	0.78031	D	0.404333	0.61031	0.3165187	0.57632	0.404333	0.61032	0.3165187	0.57631	-8.799	0.66394	D	0.9683484300509582	0.99007	0.381	0.58499	A	.	.	4.384530	0.67615	25.1	0.99898701808799517	0.97124	0.97398	0.74496	D	AEFDBI	0.736353	0.68189	D	0.602642657694672	0.73340	5.950391	0.508635300115199	0.68569	5.23831	0.999999999704018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	5.872000	0.69384	7.459000	0.59036	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:1.0:0.0:0.0	17.222	0.86843	952	0.10565	.	.	.	.	.	.	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	0.001008	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1137.83	36	chr1	5874953	.	C	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.685;DP=269;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-2.088;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	5	0	1	0
chr1	5909207	5909207	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon12:c.C1448T:p.P483L	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4028489	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0766919256262	.	.	3.322e-05	0.0002	0	0	0	0	0	9.739e-05	1.29e-05	2	154602	rs759608529	1.655e-05	1.779e-05	8.217e-06	2.5e-05	0.0003	1.12e-05	9.41e-06	0.0002	0.0002	0	0	0	0	0	0	0	1.667e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.348	0.17585	T	0.218	0.30213	B	0.087	0.29615	B	0.017297	0.27761	N	0.277119	0.999999	0.08975	N	0	0.06538	N	-2.22	0.87038	D	-0.73	0.20576	N	0.339	0.38027	-0.5197	0.67925	T	0.456	0.78837	T	10	0.12449944	0.23648	T	0.076692	0.72592	D	0.121	0.33580	0.218	0.13932	0.841197070452	0.83968	0.2574261887012353	0.25656	0.191221548169	0.21445	0.436398625374	0.30085	T	0.099044	0.40346	T	-0.205596	0.20004	T	-0.317766	0.42820	T	0.0796107303850055	0.09937	T	0.825517	0.48813	T	0.030652713	0.02766	0.029704053	0.01339	0.030652713	0.02766	0.029704053	0.01338	-3.814	0.22393	T	0.5245637362265378	0.59632	0.074	0.09336	B	.;.	.;.	1.351930	0.17595	13.26	0.59087658180853408	0.06142	0.04935	0.10693	N	AEFDBI	0.055825	0.10270	N	-0.722074165913149	0.15403	0.7758977	-0.828625643278086	0.13803	0.7179888	0.0742946682859863	0.15661	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.45	1.47	0.21832	2.848000	0.47978	5.287000	0.48197	0.676000	0.76740	0.047000	0.21291	0.999000	0.35428	0.031000	0.13245	0.1278:0.0:0.6357:0.2365	3.885	0.08599	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	.	.	.	.	.	.	.	.	0.08333	1291.83	92	chr1	5909207	.	G	A	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.18;DP=255;ExcessHet=0;FS=5.328;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.555;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	5	0	1	0
chr1	6209009	6209009	C	A	exonic	RNF207	.	nonsynonymous SNV	RNF207:NM_207396:exon4:c.C453A:p.D151E	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00597621366876	0.0004	0.000199681	0.0016	0.0013	0.0059	0	0	0.0024	0.0081	0.0012	0.0003428	53	154602	rs200960066	0.0008	0.0007	0.0007	0.0008	0.0140	0.0007	0.0007	0.0113	0.0103	0.0022	0.0017	0.0043	0	3.144e-05	0.0140	0.0005	0.0022	0.0009	0.0012	0.0012	0.0010	0.0014	0.0016	0.0010	0.0010	0.0012	0.0011	0.0015	0	0.0016	0.0072	0	0	0.0074	0.0007	0.0045	0.0005	0.327	0.13262	T	0.566	0.08930	T	0.14	0.27540	B	0.031	0.21939	B	0.009273	0.30438	U	0.122294	1	0.81001	D	0.93	0.23535	L	2.38	0.15843	T	-0.65	0.18877	N	0.088	0.06587	-0.9680	0.37612	T	0.019	0.07800	T	10	0.0057443082	0.00128	T	0.005976	0.15579	T	0.034	0.08419	0.35	0.34760	0.318828661733	0.31499	0.1485309211915922	0.14775	0.178873010165	0.20123	0.763267576694	0.76417	T	0.001381	0.00849	T	-0.578338	0.00197	T	-0.610303	0.11961	T	0.0140837785508234	0.00274	T	0.589541	0.21661	T	0.10853479	0.25661	0.05490972	0.09533	0.10853479	0.25661	0.05490972	0.09532	-3.938	0.22873	T	.	.	0.135	0.29200	B	.	.	1.348756	0.17559	13.24	0.95486077280886583	0.27056	0.59794	0.31014	D	AEFDGBHCI	0.174812	0.30196	N	-0.735030589552303	0.15042	0.7546489	-0.63410195666783	0.18619	0.9954528	0.999999999858103	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	4.94	-2.23	0.06539	-0.202000	0.09453	-1.747000	0.04800	0.599000	0.40250	0.775000	0.29414	0.000000	0.08366	0.995000	0.73285	0.0:0.5216:0.0:0.4784	10.592	0.44502	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	1	0	0	1	0	0	0	0.020279	0.028986	0.030822	0.031034	0.000000	0.000000	0.007692	0.005000	0.08333	418.83	34	chr1	6209009	.	C	A	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.662;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.19;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	5	0	1	0
chr1	6469147	6469149	TCT	-	exonic	PLEKHG5	.	nonframeshift deletion	PLEKHG5:NM_001042664:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001042665:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001265593:exon19:c.2349_2351del:p.E792del,PLEKHG5:NM_001265594:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_020631:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001042663:exon20:c.2253_2255del:p.E760del,PLEKHG5:NM_001265592:exon20:c.2253_2255del:p.E760del,PLEKHG5:NM_198681:exon20:c.2142_2144del:p.E723del	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs770809301	8.327e-06	8.26e-06	5.525e-06	1.115e-05	0.0002	4.44e-06	3.51e-06	1.97e-06	1.29e-06	0	0	0	0	0	0.0002	5.472e-06	6.699e-05	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1417.79	36	chr1	6469146	.	CTCT	C	1417.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=358;ExcessHet=0;FS=1.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-0.609;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,120,1800:.	5	0	1	0
chr1	7745952	7745952	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon8:c.C1607T:p.A536V,CAMTA1:NM_001349615:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349616:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349618:exon8:c.C1550T:p.A517V,CAMTA1:NM_001349619:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349622:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349624:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349626:exon8:c.C1211T:p.A404V,CAMTA1:NM_001349614:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349617:exon10:c.C1550T:p.A517V,CAMTA1:NM_001349620:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349621:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349623:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349625:exon10:c.C1211T:p.A404V,CAMTA1:NM_001349608:exon17:c.C4388T:p.A1463V,CAMTA1:NM_001349612:exon17:c.C4049T:p.A1350V,CAMTA1:NM_001349609:exon18:c.C4139T:p.A1380V,CAMTA1:NM_001349610:exon18:c.C4139T:p.A1380V,CAMTA1:NM_015215:exon18:c.C4478T:p.A1493V	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	1288262	Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities|not_provided	MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0427979952457	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs147636995	6.977e-05	6.977e-05	6.67e-05	7.288e-05	0.0016	5.846e-05	5.457e-05	0.0008	0.0006	5.974e-05	0.0001	7.652e-05	0	0	0.0016	6.655e-05	6.623e-05	5.797e-05	5.909e-05	5.906e-05	2.57e-05	9.398e-05	6.536e-05	3.075e-05	2.209e-05	1.972e-05	1.124e-05	2.407e-05	0	6.536e-05	0.0006	0	0	0	5.88e-05	0.0005	0	0.007	0.59928	D	0.278	0.21812	T	0.894	0.49185	P	0.154	0.34351	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	1.95	0.53302	T	-2.24	0.58407	N	0.707	0.71055	-0.4208	0.71366	T	0.391	0.74539	T	10	0.32962638	0.50213	T	0.042798	0.60651	D	0.222	0.51872	.	.	0.663351989912	0.66052	0.4720427481553493	0.47123	0.851316480579	0.68548	0.717219352722	0.69641	T	0.150643	0.49021	T	-0.0940111	0.37413	T	-0.117771	0.61985	T	0.491120308637619	0.32305	T	0.852415	0.56300	D	0.28352967	0.51384	0.24048017	0.49423	0.28352967	0.51384	0.24048017	0.49422	-7.513	0.57702	D	0.5666541319699996	0.63407	0.161	0.35477	B	.;.	.;.	4.011597	0.59186	24.1	0.99923879439659247	0.98917	0.97660	0.76227	D	AEFDGBIJ	0.687609	0.64889	D	0.44385980688512	0.63854	4.627544	0.500903196125067	0.68052	5.167045	1.0	0.98316	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	6.115000	0.71256	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:1.0:0.0:0.0	20.173	0.98162	772	0.48957	.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1270.83	33	chr1	7745952	.	C	T	1270.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.722;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	5	0	1	0
chr1	7798580	7798580	T	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon7:c.T700C:p.Y234H,PER3:NM_001289862:exon7:c.T700C:p.Y234H,PER3:NM_001289863:exon7:c.T700C:p.Y234H,PER3:NM_001377275:exon7:c.T700C:p.Y234H,PER3:NM_001377276:exon7:c.T700C:p.Y234H,PER3:NM_016831:exon7:c.T697C:p.Y233H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0159355567343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	3.12	0.87914	M	1.34	0.34841	T	-5.0	0.82341	D	0.546	0.59901	-0.6515	0.62649	T	0.215	0.57626	T	10	0.63251805	0.68598	D	0.015936	0.36945	T	0.371	0.69016	0.685	0.82271	0.524480850804	0.52094	0.7212140417289336	0.72064	0.44892956773	0.44705	0.573261618614	0.49138	T	0.249924	0.75531	T	0.221582	0.75925	D	0.0805113	0.75612	D	0.994284927845001	0.85484	D	0.860814	0.55431	D	0.8342921	0.86203	0.64821965	0.79425	0.8342921	0.86204	0.64821965	0.79426	-4.705	0.33465	T	0.6889902048281922	0.76643	0.323	0.62391	B	.;.;.;.;.	.;.;.;.;.	2.863659	0.37848	20.6	0.99577717465541504	0.72802	0.93595	0.58648	D	AEFBHCI	0.398464	0.47413	N	0.339579377633762	0.58191	3.990055	0.173955871784746	0.48424	3.058576	0.99996829061186	0.48965	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	4.247000	0.58542	0.358000	0.17546	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.051000	0.15275	0.0:0.0:0.0:1.0	12.897	0.57496	694	0.58444	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1480.83	141	chr1	7798580	.	T	C	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=315;ExcessHet=0;FS=5.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.377;SOR=1.154	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1336	5	0	1	0
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.08333	3189.83	240	chr1	7830093	.	C	T	3189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.235;DP=636;ExcessHet=0;FS=5.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.386;SOR=1.03	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	5	0	1	0
chr1	7835906	7835906	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon20:c.C3359T:p.T1120I,PER3:NM_001289864:exon20:c.C2399T:p.T800I,PER3:NM_001377275:exon20:c.C3359T:p.T1120I,PER3:NM_001377276:exon20:c.C3335T:p.T1112I,PER3:NM_016831:exon20:c.C3332T:p.T1111I,PER3:NM_001289861:exon21:c.C3302T:p.T1101I,PER3:NM_001289863:exon21:c.C3281T:p.T1094I	.	430	1082	10	0	0	10	0.00459982	.	.	.	3207130	PER3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0126678192079	0.0005	0.00199681	0.0012	0.0002	0.0012	0	0	0.0009	0.0033	0.0036	0.0010867	168	154602	rs35802556	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0006	0.0051	0.0045	0.0002	0.0018	0.0017	0	3.744e-05	0.0068	0.0004	0.0015	0.0033	0.0007	0.0007	0.0007	0.0007	0.0043	0.0006	0.0005	0.0029	0.0024	0.0001	0	0.0014	0.0006	0.0002	0	0.0034	0.0007	0.0014	0.0043	0.005	0.68238	D	0.005	0.72224	D	0.993	0.66517	D	0.911	0.68276	D	0.000001	0.62929	D	0.056701	0.999998	0.18612	N	1.995	0.54099	M	2.3	0.16953	T	-2.98	0.63554	D	0.336	0.37717	-1.0898	0.05565	T	0.093	0.35390	T	10	0.010260373	0.00229	T	0.012668	0.31446	T	0.140	0.37593	.	.	0.425851741357	0.42205	0.801088203668532	0.80062	0.0910621410951	0.10283	0.418456315994	0.27625	T	0.291599	0.72922	T	-0.450412	0.01123	T	-0.422183	0.30825	T	0.0657858276570351	0.08046	T	0.561944	0.20346	T	0.24689956	0.47664	0.14406288	0.34215	0.2582306	0.48872	0.16181502	0.37618	-5.695	0.43649	T	0.7634413780337159	0.84507	0.268	0.51032	B	.;.;.;.	.;.;.;.	0.772759	0.11430	8.036	0.92766735841159331	0.22278	0.37649	0.25809	N	AEFBI	0.086952	0.17630	N	-0.00903532443446479	0.41446	2.479162	-0.227646104577955	0.30549	1.721047	0.0199741062019359	0.13214	0.651	0.46895	0	0.547309	0.14657	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.98	3.07	0.34476	1.688000	0.37308	0.134000	0.15084	-0.817000	0.03001	0.400000	0.26170	0.001000	0.17328	0.001000	0.02609	0.0:0.8908:0.0:0.1092	8.478	0.32188	566	0.70798	.;Period circadian-like, C-terminal;.;Period circadian-like, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008595	0.005155	0.009511	0.011765	0.000000	0.008621	0.000000	0.011364	0.08333	1544.83	35	chr1	7835906	.	C	T	1544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.98;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.732;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	61.04	27	chr1	7933282	.	T	C	61.04	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.973;DP=162;ExcessHet=0.4139;FS=21.967;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.72;SOR=4.357	GT:AD:DP:GQ:PL	./.:34,0:34:0:0,0,576	3	0	2	1
chr1	7938763	7938763	C	T	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon3:c.G166A:p.A56T	.	431	1047	43	1	0	45	0.0210379	.	.	YES	246892	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00393022335699	0.0030	0.00159744	0.0036	0.0005	0.0032	0	0.0008	0.0048	0.0044	0.0039	0.0035316	546	154602	rs9657963	0.0037	0.0038	0.0036	0.0039	0.0248	0.0036	0.0036	0.0215	0.0203	0.0007	0.0043	0.0115	2.519e-05	0.0011	0.0248	0.0037	0.0049	0.0042	0.0033	0.0033	0.0033	0.0033	0.0074	0.0031	0.0030	0.0063	0.0059	0.0006	0	0.0074	0.0130	0.0002	0.0005	0.0204	0.0040	0.0071	0.0035	1.0	0.00964	T	0.941	0.02685	T	0.001	0.07471	B	0.001	0.04355	B	0.320357	0.04070	N	1.492440	1	0.08975	N	-1.08	0.01032	N	3.34	0.06063	T	1.3	0.00948	N	0.032	0.00825	-0.9451	0.41797	T	0.009	0.03096	T	10	0.0033856928	0.00059	T	0.00393	0.09274	T	0.070	0.20419	.	.	0.12205267543	0.11705	0.49123176202066027	0.49044	0.0877038788788	0.09897	0.234466671944	0.02315	T	0.238459	0.60636	T	-0.763029	0.00014	T	-0.866481	0.00776	T	0.00133808490448402	0.00013	T	0.410359	0.10588	T	0.084032446	0.19431	0.08841771	0.20615	0.084032446	0.19431	0.08841771	0.20615	-2.519	0.05912	T	.	.	0.058	0.00705	B	.;.	.;.	0.541472	0.09098	5.884	0.1384294636572114	0.00286	0.00405	0.02019	N	AEFBI	0.033166	0.03882	N	-1.18175397809927	0.05276	0.2401307	-1.07042647388821	0.08287	0.4067902	0.631043940166331	0.21968	0.549168	0.22868	0	0.588066	0.40923	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.39	3.06	0.34374	1.348000	0.33592	-0.949000	0.06820	-0.835000	0.02838	0.445000	0.26527	0.000000	0.08366	0.005000	0.06747	0.0:0.2271:0.0:0.7729	6.163	0.19590	809	0.43032	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.019022	0.032164	0.000000	0.017241	0.021341	0.003788	0.08333	331.83	36	chr1	7938763	.	C	T	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.577;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.851;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	5	0	1	0
chr1	8330467	8330467	G	A	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001379617:exon3:c.G368A:p.S123N,SLC45A1:NM_001379618:exon3:c.G368A:p.S123N,SLC45A1:NM_001379615:exon4:c.G881A:p.S294N,SLC45A1:NM_001379616:exon4:c.G881A:p.S294N,SLC45A1:NM_001080397:exon5:c.G974A:p.S325N,SLC45A1:NM_001379614:exon5:c.G974A:p.S325N	.	.	.	.	.	.	.	.	.	.	.	2332792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00624451351179	.	.	8.654e-06	0	0	0	0	0	0.0012	0	6.5e-06	1	154602	rs201811255	8.903e-06	8.893e-06	1.09e-05	6.883e-06	0.0002	4.97e-06	3.83e-06	7.42e-06	3.32e-06	0	4.476e-05	0	0	0	0.0002	8.994e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.506	0.10967	T	.	.	.	.	.	.	0.187113	0.03223	N	1.542880	1	0.08975	N	.	.	.	2.33	0.16492	T	-0.41	0.14000	N	0.074	0.04790	-0.9926	0.31933	T	0.016	0.06616	T	10	0.042592615	0.03024	T	0.006245	0.16376	T	0.037	0.09474	0.245	0.17984	0.248417906384	0.24464	0.27006198039649176	0.26919	0.383896752763	0.39705	0.357035934925	0.18953	T	.	.	.	-0.460258	0.00980	T	-0.81604	0.01534	T	0.0233041014794551	0.01059	T	0.174183	0.01674	T	0.03415621	0.03779	0.041461892	0.04718	0.03415621	0.03779	0.041461892	0.04718	-5.338	0.40318	T	.	.	0.079	0.10014	B	.;.	.;.	-0.083167	0.03741	0.775	0.56797115806742204	0.05630	0.02748	0.07430	N	AEFDBHI	0.031112	0.03259	N	-1.31993813555025	0.03447	0.1540086	-1.24939345364492	0.05140	0.2442067	0.482999431706237	0.20801	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.34	2.25	0.27340	1.284000	0.32855	-0.032000	0.12782	-0.173000	0.11020	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.5362:0.3413:0.1225:0.0	6.770	0.22773	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2039.83	64	chr1	8330467	.	G	A	2039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.187;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=-0.382;SOR=0.631	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr1	8335458	8335458	G	A	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001379617:exon4:c.G859A:p.G287S,SLC45A1:NM_001379618:exon4:c.G859A:p.G287S,SLC45A1:NM_001379615:exon5:c.G1372A:p.G458S,SLC45A1:NM_001379616:exon5:c.G1372A:p.G458S,SLC45A1:NM_001080397:exon6:c.G1465A:p.G489S,SLC45A1:NM_001379614:exon6:c.G1465A:p.G489S	.	.	.	.	.	.	.	.	.	.	.	4075348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.245	0.0170035387473	7.7e-05	.	8.679e-05	0	8.723e-05	0	0	3.1e-05	0	0.0005	6.47e-05	10	154602	rs142493927	6.231e-05	6.225e-05	3.859e-05	8.625e-05	0.0005	5.156e-05	4.772e-05	0.0004	0.0004	0	4.538e-05	0	2.525e-05	4.966e-05	0	3.244e-05	8.315e-05	0.0005	3.943e-05	3.94e-05	0	8.071e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.268	0.16144	T	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.72	0.26588	T	-0.74	0.20791	N	0.862	0.86297	-1.0301	0.20422	T	0.136	0.45126	T	10	0.52161765	0.62675	D	0.017004	0.38515	T	0.245	0.55201	.	.	0.705106200057	0.70254	0.7231041437510916	0.72254	0.596916655159	0.54907	0.818932414055	0.84865	D	.	.	.	-0.159358	0.26859	T	-0.101384	0.63292	T	0.187473401427269	0.19694	T	0.944506	0.78979	D	0.14450985	0.33167	0.14940271	0.35278	0.16796301	0.37225	0.13986348	0.33356	-4.938	0.36159	T	.	.	0.508	0.66691	A	.;.	.;.	4.164767	0.62574	24.5	0.99859324612349232	0.93820	0.98784	0.86809	D	AEFDBI	0.887586	0.81996	D	0.543607806444412	0.69695	5.393456	0.522756987221802	0.69525	5.372707	0.999999999997483	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	9.151000	0.93839	11.364000	0.92594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:1.0:0.0	17.483	0.87573	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1716.83	42	chr1	8335458	.	G	A	1716.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.814;DP=357;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.015;SOR=0.962	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1727,0,1698	5	0	1	0
chr1	9264543	9264543	A	G	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.A2083G:p.S695G,H6PD:NM_004285:exon5:c.A2050G:p.S684G	Cortisone reductase deficiency 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00841123415084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867670924	1.574e-05	1.573e-05	1.226e-05	1.926e-05	0.0004	1.048e-05	8.76e-06	0.0003	0.0002	0.0004	0	0	0	0	0	2.698e-06	6.624e-05	2.319e-05	1.969e-05	3.281e-05	0	4.027e-05	7.216e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0	0	0	0	0	0	0.258	0.16683	T	0.305	0.20877	T	0.004	0.12183	B	0.011	0.15521	B	0.000548	0.43413	N	0.290238	0.998702	0.45307	D	0.705	0.18577	N	0.96	0.42888	T	-1.51	0.36787	N	0.122	0.11769	-1.0850	0.06407	T	0.049	0.20711	T	10	0.118512124	0.22408	T	0.008411	0.22257	T	0.047	0.12962	0.481	0.56142	0.435808882951	0.43200	0.5553864533728059	0.55465	0.0953587799458	0.10770	0.36070817709	0.19489	T	0.057152	0.30487	T	-0.241032	0.15218	T	-0.584002	0.14188	T	0.0793870911002159	0.09907	T	0.672333	0.28093	T	0.059430983	0.12078	0.07642909	0.16926	0.059430983	0.12078	0.07642909	0.16925	-3.527	0.16812	T	0.2298953583872099	0.31101	0.059	0.01668	B	.;.	.;.	1.972297	0.25058	16.62	0.97832460295890578	0.36272	0.83332	0.42457	D	AEFDBI	0.196485	0.32346	N	-0.398454346874945	0.25525	1.386184	-0.20173418622793	0.31475	1.781566	0.989836828146389	0.31950	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	3.36	0.37579	1.915000	0.39607	1.747000	0.28445	0.756000	0.94297	0.999000	0.42656	0.507000	0.25236	0.946000	0.48989	0.5478:0.0:0.1625:0.2898	3.308	0.06595	901	0.24189	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1764.83	151	chr1	9264543	.	A	G	1764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.05;DP=840;ExcessHet=0;FS=4.835;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.77;SOR=1.013	GT:AD:DP:GQ:PL	0/0:199,0:199:99:0,120,1800	5	0	1	0
chr1	9264760	9264760	C	A	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.C2300A:p.T767K,H6PD:NM_004285:exon5:c.C2267A:p.T756K	Cortisone reductase deficiency 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00897757397568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.41	0.15305	T	0.218	0.30213	B	0.042	0.24114	B	0.250971	0.15511	N	0.671970	0.999998	0.08975	N	0.09	0.08384	N	1.09	0.39223	T	-1.45	0.35597	N	0.117	0.12484	-1.0306	0.20260	T	0.043	0.18659	T	10	0.053057224	0.05436	T	0.008978	0.23655	T	0.032	0.07718	0.409	0.44395	0.350746614512	0.34690	0.5937393076524289	0.59303	0.145806617952	0.16464	0.249853372574	0.03752	T	0.068013	0.33349	T	-0.268066	0.11972	T	-0.622835	0.10965	T	0.0793222225045093	0.09899	T	0.607439	0.22904	T	0.02974765	0.02521	0.0588847	0.10956	0.02974765	0.02521	0.0588847	0.10955	-2.54	0.06061	T	0.2365575781084429	0.32033	0.139	0.30344	B	.;.	.;.	0.695686	0.10646	7.343	0.29806043174459967	0.01599	0.19939	0.20853	N	AEFDBI	0.272892	0.38842	N	-1.09329948972213	0.06766	0.3124045	-1.05188080232145	0.08668	0.427317	0.967316113847975	0.28968	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.45	0.709	0.17307	1.393000	0.34106	-0.415000	0.09322	-0.181000	0.10308	0.040000	0.20979	0.000000	0.08366	0.814000	0.38357	0.0:0.5823:0.0:0.4177	8.949	0.34939	903	0.23940	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-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	.	.	.	.	.	.	.	.	0.08333	2057.83	40	chr1	9264760	.	C	A	2057.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=342;ExcessHet=0;FS=2.062;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.312;SOR=0.911	GT:AD:DP:GQ:PL	0/1:73,77:150:99:2068,0,1866	5	0	1	0
chr1	9720138	9720138	A	G	exonic	PIK3CD	.	nonsynonymous SNV	PIK3CD:NM_001350235:exon10:c.A1279G:p.T427A,PIK3CD:NM_001350234:exon11:c.A1366G:p.T456A,PIK3CD:NM_005026:exon11:c.A1366G:p.T456A	Immunodeficiency 14, Autosomal dominant	413	1101	6	2	0	10	0.0045208	.	.	.	448268	not_provided|Immunodeficiency_14|not_specified|PIK3CD-related_disorder	MedGen:C3661900|MONDO:MONDO:0014222,MedGen:C3714976,OMIM:615513,Orphanet:397596|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	7.7e-05	0.00778754	0.0071	0.0002	0.0147	0.0415	0.0206	0.0017	0.0112	0.0041	0.0061642	953	154602	rs28730674	0.0031	0.0032	0.0031	0.0032	0.0477	0.0031	0.0030	0.0459	0.0452	0.0002	0.0118	0.0012	0.0477	0.0210	0.0010	0.0004	0.0037	0.0038	0.0039	0.0039	0.0030	0.0048	0.0424	0.0037	0.0036	0.0378	0.0360	4.813e-05	0	0.0039	0.0023	0.0424	0.0222	0.0034	0.0007	0.0009	0.0046	0.257	0.17821	T	0.08	0.41913	T	0.0	0.02946	B	0.001	0.04355	B	0.003652	0.34662	N	0.356599	0.999583	0.20930	N	-0.55	0.02420	N	-1.01	0.76168	T	-0.5	0.15782	N	0.262	0.29659	-1.0275	0.21266	T	0.054	0.22693	T	10	0.007569164	0.00172	T	.	.	.	0.128	0.35103	.	.	0.672937485663	0.67017	0.6524903277073791	0.65185	0.916383258125	0.71252	0.250218421221	0.03790	T	0.004055	0.49814	T	-0.495001	0.00610	T	-0.440554	0.28745	T	0.00846418338586233	0.00103	T	0.453455	0.12891	T	0.0540683	0.10323	0.03286777	0.02089	0.07687313	0.17412	0.029144252	0.01220	-3.881	0.22018	T	0.1749568650262596	0.22246	0.057	0.02458	B	.;.;.;.;.	.;.;.;.;.	0.133547	0.05285	1.783	0.68167734259125845	0.08576	0.73221	0.35819	D	AEFBCI	0.197800	0.32470	N	-0.800355971764361	0.13301	0.6542867	-0.745771673343951	0.15826	0.8342714	0.999657426556877	0.41424	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.54	-0.546	0.11248	1.021000	0.29642	1.565000	0.27381	-0.054000	0.16847	0.919000	0.31930	0.001000	0.17328	0.177000	0.21203	0.5476:0.0:0.1832:0.2692	3.713	0.07955	835	0.38313	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	.	.	.	.	.	Likely benign	0	0	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	0.002016	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.003817	0.1667	3309.04	43	chr1	9720138	.	A	G	3309.04	.	AC=2;AF=0.167;AN=12;DP=291;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.93;SOR=1.211	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	5	1	0	0
chr1	9773277	9773277	A	T	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001009566:exon2:c.T209A:p.F70Y,CLSTN1:NM_001302883:exon2:c.T209A:p.F70Y,CLSTN1:NM_014944:exon2:c.T209A:p.F70Y	.	432	1083	6	1	0	8	0.00367985	.	.	.	707613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.130	.	0.0002	0.00778754	0.0075	0.0002	0.0149	0.0424	0.0223	0.0023	0.0155	0.0028	0.0064423	996	154602	rs1129358	0.0033	0.0033	0.0033	0.0033	0.0482	0.0032	0.0032	0.0464	0.0457	0.0002	0.0119	0.0002	0.0482	0.0234	0.0010	0.0005	0.0042	0.0033	0.0042	0.0042	0.0032	0.0052	0.0428	0.0039	0.0038	0.0382	0.0364	4.811e-05	0	0.0038	0.0003	0.0428	0.0251	0.0034	0.0009	0.0009	0.0050	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.12133	B	0.000003	0.62929	D	0.106619	1	0.81001	D	-1.32	0.00691	N	0.18	0.60361	T	0.72	0.02195	N	0.419	0.49146	-0.9747	0.36191	T	0.010	0.03719	T	10	0.0062605143	0.00141	T	.	.	.	0.130	0.35528	.	.	0.351146185902	0.34720	0.4699316485721241	0.46912	0.311417268243	0.33444	0.659449219704	0.61331	T	0.019658	0.15622	T	-0.482567	0.00715	T	-0.42116	0.30942	T	0.0195774938082214	0.00660	T	0.741926	0.36121	T	0.0550333	0.10641	0.040724423	0.04466	0.0550333	0.10641	0.040724423	0.04466	-5.469	0.41578	T	.	.	0.140	0.30660	B	.;.	.;.	1.765504	0.22456	15.63	0.4078652552326828	0.02901	0.83427	0.42545	D	AEFBI	0.136611	0.25734	N	-0.747156413870075	0.14711	0.7351077	-0.478326074215113	0.22752	1.237327	0.988180822299889	0.31438	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	4.4	0.52402	3.520000	0.53221	8.931000	0.78410	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.7597:0.0:0.0:0.2402	10.030	0.41267	635	0.64580	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.001359	0.000000	0.000000	0.000000	0.009317	0.003817	0.1667	995.04	33	chr1	9773277	.	A	T	995.04	.	AC=2;AF=0.167;AN=12;DP=206;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.43;SOR=0.869	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	5	1	0	0
chr1	9872043	9872043	C	T	exonic	CTNNBIP1	.	nonsynonymous SNV	CTNNBIP1:NM_001012329:exon3:c.G22A:p.G8R,CTNNBIP1:NM_020248:exon4:c.G22A:p.G8R	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.0789979547203	0.0014	0.00159744	0.0012	0.0016	0.0010	0	0	0.0010	0.0044	0.0030	0.0011125	172	154602	rs113935062	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0026	0.0025	0.0017	0.0007	0.0007	0	3.744e-05	0.0035	0.0006	0.0011	0.0029	0.0010	0.0010	0.0010	0.0011	0.0019	0.0009	0.0008	0.0015	0.0013	0.0018	0	0.0007	0.0006	0	0	0.0068	0.0008	0.0028	0.0019	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	.	.	.	-7.98	0.96395	D	0.895	0.89465	-0.1288	0.79429	T	0.452	0.78562	T	7	0.09904593	0.17948	T	0.078998	0.73134	D	0.788	0.92988	0.73	0.86373	0.566157159212	0.56278	0.6757922675806741	0.67517	1.14941867883	0.79163	0.87816298008	0.93712	D	0.563281	0.85417	D	0.157932	0.70009	D	0.449467	0.93566	D	0.137941673398018	0.16096	T	0.910209	0.68156	D	0.8309937	0.85971	0.7797654	0.87015	0.8309937	0.85973	0.7797654	0.87016	-3.621	0.18161	T	.	.	0.437	0.61572	A	.;.;.;.	.;.;.;.	5.303402	0.89035	29.8	0.99866399551738549	0.94457	0.96689	0.70415	D	AEFDBI	0.890924	0.82641	D	0.667462448410622	0.77503	6.687234	0.671753812635673	0.80238	7.255043	0.999999999999644	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.568000	0.81546	7.588000	0.61163	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.566	0.87817	639	0.64210	Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.002924	0.000000	0.000000	0.009146	0.007576	0.08333	1323.83	36	chr1	9872043	.	C	T	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=317;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.982;SOR=0.794	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1334,0,1888	5	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1750.23	207	chr1	10326244	.	G	C	1750.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,26:153:42:0|1:10326244_G_C:42,0,4433:10326244	3	0	3	0
chr1	10326244	10326244	G	A	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671A:p.E891K,KIF1B:NM_001365951:exon27:c.G2809A:p.E937K,KIF1B:NM_001365952:exon27:c.G2809A:p.E937K	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0702147198646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.40068	T	0.031	0.53788	D	0.974	0.57829	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.8	0.74793	T	-1.95	0.47344	N	0.842	0.86297	-0.1741	0.78328	T	0.495	0.80854	T	10	0.7175096	0.73443	D	0.070215	0.70941	D	0.434	0.73951	0.267	0.21418	0.854749708288	0.85335	0.7995837043823811	0.79912	1.31774924333	0.83370	0.870485365391	0.92638	D	0.402952	0.75983	T	0.313264	0.83988	D	0.212206	0.83779	D	0.895268738269806	0.54679	D	0.990041	0.96927	D	0.4144187	0.61718	0.37101015	0.62339	0.4144187	0.61719	0.37101015	0.62339	-12.881	0.89052	D	.	.	0.391	0.62221	A	.;.;.;.;.	.;.;.;.;.	5.153233	0.86316	28.9	0.99879548282218389	0.95572	0.99208	0.92825	D	AEFGBI	0.899206	0.84333	D	0.534574101761821	0.69150	5.316186	0.632757527234062	0.77333	6.658991	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1750.23	207	chr1	10326244	.	G	A	1750.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:127,0:153:42:0|1:10326244_G_C:42,422,4927:10326244	5	0	1	0
chr1	10660315	10660315	T	C	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.A727G:p.I243V,CASZ1:NM_017766:exon6:c.A727G:p.I243V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00730102778392	.	.	0.0002	0	0.0002	0	0	3.014e-05	0.0011	0.0009	0.0001294	20	154602	rs765251135	8.961e-05	8.961e-05	4.901e-05	0.0001	0.0011	7.689e-05	7.233e-05	0.0009	0.0009	0	0	3.826e-05	0	0	0.0003	2.338e-05	9.934e-05	0.0011	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.948	0.54400	P	0.949	0.68658	D	0.000000	0.84330	D	0.000000	0.838404	0.35027	D	0.975	0.24501	L	.	.	.	-0.27	0.11366	N	0.705	0.70878	-0.4796	0.69381	T	0.220	0.58319	T	9	0.13803461	0.26254	T	0.007301	0.19361	T	0.152	0.39956	0.301	0.26843	0.27715347029	0.27323	0.2746612442575819	0.27379	.	.	0.728434085846	0.71278	T	0.298804	0.67135	T	-0.31817	0.07048	T	-0.280247	0.46779	T	0.261395457428229	0.23375	T	0.958704	0.86445	D	0.37784392	0.59160	0.24687718	0.50206	0.37784392	0.59160	0.24687718	0.50205	-5.492	0.41793	T	.	.	0.781	0.76425	P	.;.	.;.	4.174841	0.62805	24.5	0.99750547706455817	0.84228	0.93867	0.59421	D	AEFBI	0.787577	0.71732	D	0.430478299537956	0.63106	4.538026	0.439693148747423	0.64058	4.652447	0.999999886131012	0.74766	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	5.886000	0.69487	7.762000	0.68315	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	13.908	0.63352	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	782.83	37	chr1	10660315	.	T	C	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.453;DP=230;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.343;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	5	0	1	0
chr1	11027215	11027215	T	G	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon11:c.A1731C:p.Q577H	MASP2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	276141	not_provided|Immunodeficiency_due_to_MASP-2_deficiency	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.187	.	0.0002	0.0071885	0.0041	0.0007	0.0068	0.0438	0	2.998e-05	0.0077	0.0012	0.0035899	555	154602	rs144471433	0.0017	0.0017	0.0018	0.0017	0.0514	0.0017	0.0016	0.0496	0.0488	0.0004	0.0048	0	0.0514	0	0.0003	4.317e-05	0.0017	0.0012	0.0018	0.0018	0.0015	0.0020	0.0389	0.0016	0.0015	0.0345	0.0328	0.0006	0	0.0012	0	0.0389	0	0	0.0001	0.0028	0.0015	0.1	0.30515	T	0.068	0.44106	T	0.016	0.17332	B	0.038	0.23361	B	0.003088	0.35449	N	0.269013	0.999883	0.19853	N	0.355	0.11969	N	-2.4	0.88455	D	-0.45	0.14782	N	0.162	0.17002	-0.7311	0.58908	T	0.136	0.45087	T	10	0.00299263	0.00049	T	.	.	.	0.187	0.46274	0.447	0.50629	0.837985424677	0.83644	0.49211991111733683	0.49132	0.0381200310596	0.04051	0.286368876696	0.08395	T	0.155896	0.49784	T	-0.364198	0.03898	T	-0.248026	0.50012	T	0.00401165311852288	0.00043	T	0.60264	0.22576	T	0.29097435	0.52083	0.11917779	0.28766	0.29097435	0.52083	0.11917779	0.28765	-6.29	0.48642	T	0.3092479349957325	0.40706	0.212	0.43975	B	.	.	1.195029	0.15865	12.16	0.99308448925002069	0.58906	0.51162	0.28832	D	AEFBHCI	0.073905	0.14797	N	-0.56009593087014	0.20168	1.06123	-0.470159980366795	0.22981	1.250917	0.999163343520851	0.38622	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.05	0.139	0.14095	0.049000	0.13983	-2.679000	0.03475	0.665000	0.62972	0.606000	0.27796	0.000000	0.08366	0.955000	0.50612	0.0:0.591:0.0:0.409	10.871	0.46092	840	0.37365	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	1	0	.	.	.	.	.	.	.	.	0.08333	2295.83	34	chr1	11027215	.	T	G	2295.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=343;ExcessHet=0;FS=6.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.973;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr1	11073948	11073948	T	C	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon19:c.A2143G:p.T715A	.	437	1084	1	0	0	1	0.000461042	.	.	.	2805695	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00414446886988	0.0024	0.00139776	0.0016	0.0005	0.0015	0	0.0003	0.0025	0	6.069e-05	0.0019081	295	154602	rs115976717	0.0034	0.0034	0.0035	0.0034	0.0042	0.0033	0.0033	0.0041	0.0040	0.0008	0.0021	0.0006	0	0.0002	0.0007	0.0042	0.0035	0.0002	0.0021	0.0022	0.0024	0.0018	0.0038	0.0020	0.0019	0.0034	0.0033	0.0007	0	0.0017	0.0009	0.0002	0.0002	0	0.0038	0.0029	0.0002	0.091	0.31834	T	0.362	0.16865	T	0.009	0.15093	B	0.006	0.12133	B	0.000016	0.62929	D	0.121114	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.56	0.17003	N	0.208	0.23125	-1.0674	0.09994	T	0.073	0.29643	T	9	0.009223729	0.00208	T	0.004144	0.09931	T	0.052	0.14661	.	.	0.529763130185	0.52623	0.2197957353474885	0.21895	0.218849740323	0.24425	0.388834863901	0.23505	T	0.174343	0.52354	T	-0.52614	0.00405	T	-0.522849	0.20008	T	0.00859158571604889	0.00105	T	0.89841	0.64469	D	0.076230414	0.17225	0.050221756	0.07840	0.076230414	0.17225	0.050221756	0.07839	-3.033	0.10541	T	.	.	0.083	0.09045	B	.	.	3.619695	0.51223	23.1	0.98443729807833746	0.41542	0.89644	0.50241	D	AEFDBI	0.464222	0.51281	N	-0.493542629662982	0.22291	1.189278	-0.33723812345208	0.26907	1.489321	0.999493985612249	0.40007	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.57	0.55860	4.326000	0.59028	9.093000	0.78751	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.6708:0.0:0.0:0.3292	9.208	0.36462	485	0.77085	.	.	.	.	.	.	Likely benign	0	0	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	405.83	63	chr1	11073948	.	T	C	405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.236;DP=262;ExcessHet=0;FS=4.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.706;SOR=0.458	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1107	5	0	1	0
chr1	11827153	11827153	A	G	exonic	CLCN6	.	nonsynonymous SNV	CLCN6:NM_001256959:exon9:c.A706G:p.I236V,CLCN6:NM_001286:exon10:c.A772G:p.I258V	.	435	1085	2	0	0	2	0.00092081	.	.	.	1453659	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.472	0.238419512938	.	0.000199681	9.077e-05	0	8.658e-05	0.0003	0.0002	6.003e-05	0.0022	0	7.76e-05	12	154602	rs201010581	4.857e-05	4.857e-05	5.309e-05	4.401e-05	0.0005	3.926e-05	3.605e-05	0.0002	0.0002	0	8.945e-05	0	0.0004	3.744e-05	0.0005	3.058e-05	0.0001	5.797e-05	3.285e-05	3.281e-05	3.856e-05	2.687e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.411e-05	0	0	0.563	0.12511	T	0.352	0.20293	T	0.997	0.70673	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-3.4	0.94260	D	-0.54	0.16598	N	0.569	0.59223	-0.7727	0.56709	T	0.200	0.55640	T	9	0.5547419	0.64454	D	0.23842	0.88586	D	0.685	0.88490	.	.	0.825622178091	0.82397	0.6286500505548446	0.62798	1.00116411819	0.74409	0.618605434895	0.55532	T	0.496599	0.81883	T	0.0803677	0.62083	D	0.169815	0.81398	D	0.250325858592987	0.22887	T	0.748625	0.41328	T	0.1710401	0.37715	0.079358086	0.17859	0.1710401	0.37714	0.079358086	0.17858	-4.047	0.27627	T	.	.	0.113	0.22135	B	.;.;.	.;.;.	3.052574	0.40963	21.3	0.99721921432994209	0.82125	0.98459	0.82997	D	AEFBI	0.754956	0.69467	D	0.0820320506450963	0.45626	2.815952	0.23471517587948	0.51783	3.358032	0.999999953256665	0.74766	0.744818	0.98587	0	0.653731	0.59785	0	0.732433	0.93434	0	0.636168	0.56350	0	.	.	5.19	5.19	0.71428	7.161000	0.77080	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	1.0:0.0:0.0:0.0	14.217	0.65346	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001526	0.000000	0.000000	0.002941	0.100000	0.000000	0.000000	0.000000	0.08333	1718.83	142	chr1	11827153	.	A	G	1718.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=317;ExcessHet=0;FS=1.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.232;SOR=0.561	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1156	5	0	1	0
chr1	11834535	11834535	G	A	exonic	CLCN6	.	nonsynonymous SNV	CLCN6:NM_001256959:exon16:c.G1672A:p.V558M,CLCN6:NM_001286:exon17:c.G1738A:p.V580M	.	432	1078	12	0	0	12	0.00553506	.	.	.	696022	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.408	0.12413760199	0.0019	0.00159744	0.0027	0.0002	0.0005	0	0.0011	0.0035	0.0022	0.0044	0.0025355	392	154602	rs150830522	0.0024	0.0024	0.0022	0.0025	0.0062	0.0023	0.0023	0.0046	0.0041	0.0003	0.0007	0.0032	0	0.0015	0.0062	0.0024	0.0021	0.0046	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0018	0.0032	0.0031	0.0004	0	0.0007	0.0037	0.0004	0.0013	0.0068	0.0036	0.0019	0.0025	0.001	0.78490	D	0.002	0.79402	D	0.293	0.32367	B	0.029	0.21540	B	0.000031	0.55875	D	0.123949	0.986941	0.81001	D	0.69	0.16971	N	-3.17	0.93054	D	-1.74	0.42191	N	0.668	0.67650	-0.0073	0.82105	T	0.484	0.80340	T	10	0.014210612	0.00299	T	0.124138	0.80543	D	0.408	0.72022	.	.	0.852511191194	0.85109	0.5966351083214423	0.59593	0.744080946356	0.63420	0.686736822128	0.65237	T	0.36824	0.73317	T	-0.179703	0.23780	T	-0.0305037	0.68336	D	0.0624264771606103	0.07545	T	0.977202	0.94447	D	0.121195085	0.28504	0.19802806	0.43615	0.121195085	0.28503	0.19802806	0.43614	-7.871	0.63585	D	.	.	0.454	0.62406	A	.;.;.	.;.;.	3.817845	0.55106	23.6	0.99604815872946917	0.74456	0.95102	0.63445	D	AEFDBI	0.357379	0.44843	N	-0.0901217765202134	0.37824	2.20625	0.0387388537483152	0.41531	2.496658	0.999888893331987	0.44867	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.45	4.52	0.54797	4.881000	0.62806	6.568000	0.55959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0818:0.0:0.9182:0.0	12.429	0.54901	662	0.61715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.001359	0.011696	0.000000	0.000000	0.003049	0.015152	0.08333	1331.83	40	chr1	11834535	.	G	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=271;ExcessHet=0;FS=1.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=1.03;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr1	12022306	12022306	C	T	exonic	MIIP	.	nonsynonymous SNV	MIIP:NM_021933:exon3:c.C326T:p.P109L	.	.	.	.	.	.	.	.	.	.	.	2438811	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00415135316268	0.0003	0.000199681	6.735e-05	0.0004	0	0	0	6.153e-05	0	0	7.12e-05	11	154602	rs150131592	3.489e-05	3.489e-05	3.267e-05	3.713e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0001	0.0003	4.472e-05	0	2.519e-05	0	0	1.799e-05	1.656e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0.0002	0	0	5.883e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.004	0.10090	B	0.737367	0.06407	N	1.158550	1	0.08975	N	0.145	0.08828	N	2.36	0.16089	T	-1.55	0.37566	N	0.031	0.00770	-0.9672	0.37774	T	0.019	0.08033	T	10	0.014510989	0.00305	T	0.004151	0.09963	T	0.055	0.15663	.	.	0.0297737177859	0.01360	0.11717981167449362	0.11645	0.0957698984691	0.10815	0.297530651093	0.10034	T	0.003831	0.03242	T	-0.645546	0.00077	T	-0.835057	0.01176	T	0.0190186224222752	0.00611	T	0.678632	0.28733	T	0.02106342	0.00690	0.040418446	0.04362	0.02106342	0.00690	0.040418446	0.04362	-4.252	0.27499	T	.	.	0.075	0.05447	B	.	.	-1.414230	0.00350	0.006	0.779465176335701	0.12090	0.00520	0.02423	N	AEFBI	0.039752	0.05818	N	-1.63442398927641	0.01102	0.04785448	-1.70308952407538	0.01124	0.05052124	0.999999671344772	0.74766	0.631515	0.41029	0	0.685571	0.66316	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.69	-7.21	0.01340	-2.350000	0.01172	-9.160000	0.00859	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.2371:0.0:0.7629	14.354	0.66289	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	3452.04	42	chr1	12022306	.	C	T	3452.04	.	AC=2;AF=0.167;AN=12;DP=302;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.88;SOR=1.222	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3472,315,0	5	1	0	0
chr1	12253770	12253770	A	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon7:c.A613G:p.I205V,VPS13D:NM_018156:exon7:c.A613G:p.I205V	.	438	1066	18	0	0	18	0.00837209	.	.	.	1545717	not_provided|VPS13D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	0.00188998524225	0.0028	0.00179712	0.0025	0.0003	0.0021	0.0001	0.0002	0.0036	0.0033	0.0015	0.0025938	401	154602	rs61774897	0.0031	0.0031	0.0030	0.0032	0.0064	0.0030	0.0030	0.0048	0.0042	0.0004	0.0025	0.0157	0	0.0002	0.0064	0.0032	0.0034	0.0020	0.0023	0.0023	0.0023	0.0024	0.0044	0.0021	0.0021	0.0036	0.0033	0.0005	0	0.0044	0.0138	0	9.409e-05	0.0102	0.0030	0.0028	0.0014	.	.	.	0.84	0.03610	T	0.0	0.02946	B	0.001	0.06944	B	0.000832	0.41547	D	0.216253	0.975897	0.25407	N	-0.735	0.01762	N	.	.	.	.	.	.	0.217	0.24385	-1.0181	0.24334	T	0.031	0.13418	T	10	0.010130167	0.00227	T	0.00189	0.03325	T	.	.	.	.	0.043077524339	0.03247	0.14933114223322055	0.14855	.	.	0.303793847561	0.10970	T	0.057816	0.30670	T	-0.574703	0.00207	T	-0.595963	0.13153	T	0.00350162121524744	0.00037	T	0.653935	0.26417	T	0.041209448	0.06027	0.03329593	0.02200	0.042531952	0.06467	0.025643606	0.00617	-2.375	0.04982	T	0.13253507610897544	0.14139	0.064	0.01668	B	.;.	.;.	0.704139	0.10728	7.420	0.51522997681267424	0.04578	0.58479	0.30653	D	AEFBI	0.057484	0.10712	N	-0.905339394498752	0.10715	0.5134602	-0.700824040664418	0.16940	0.8984954	0.76011316289932	0.23495	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	1.119000	0.30872	-0.066000	0.12360	-0.041000	0.17446	1.000000	0.71638	0.000000	0.08366	0.946000	0.48989	0.5772:0.1361:0.2867:0.0	5.551	0.16378	862	0.33134	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.010101	0.008152	0.000000	0.000000	0.043103	0.006098	0.007576	0.1667	3615.04	33	chr1	12253770	.	A	G	3615.04	.	AC=2;AF=0.167;AN=12;DP=309;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.02;SOR=0.772	GT:AD:DP:GQ:PL	1/1:0,129:129:99:3635,386,0	5	1	0	0
chr1	12827557	12827557	A	C	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.T567G:p.I189M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.000589609138837	.	0.00199681	0.0011	0.0041	0.0018	0	0	0.0009	0.0011	0.0003	0.0009508	147	154602	rs186975145	0.0008	0.0008	0.0008	0.0007	0.0077	0.0007	0.0007	0.0059	0.0052	0.0047	0.0023	0.0027	0	0	0.0077	0.0006	0.0016	0.0001	0.0019	0.0019	0.0019	0.0019	0.0043	0.0017	0.0016	0.0038	0.0036	0.0043	0	0.0031	0.0032	0	0	0.0139	0.0007	0.0010	0	.	.	.	0.064	0.44905	T	.	.	.	.	.	.	0.017593	0.27685	N	0.336904	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	-1.0386	0.17740	T	0.015	0.06042	T	10	0.004428059	0.00090	T	5.9E-4	0.00260	T	.	.	.	.	0.0297737177859	0.01360	0.5581545414682065	0.55742	.	.	0.689267396927	0.65601	T	.	.	.	-0.130451	0.31422	T	-0.42516	0.30486	T	0.000953873510070375	0.00009	T	.	.	.	0.031912856	0.03119	0.03512223	0.02704	0.031912856	0.03119	0.03512223	0.02704	-8.168	0.62209	D	.	.	0.142	0.31177	B	.	.	1.209046	0.16017	12.26	0.32382434261938464	0.01873	0.00654	0.02841	N	AEI	0.026876	0.02097	N	-1.56754857853899	0.01434	0.06257597	-1.70638859721417	0.01109	0.04986104	5.2833101956045E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-2.85	0.05392	0.131000	0.15696	-20.000000	0.00162	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4078:0.2447:0.3474:0.0	3.02	0.05704	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	0.010328	0.024590	0.017906	0.013274	0.000000	0.008772	0.000000	0.000000	0.08333	5254.83	360	chr1	12827557	.	A	C	5254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.099;DP=886;ExcessHet=0;FS=0.795;MLEAC=1;MLEAF=0.083;MQ=52.57;MQRankSum=-0.573;QD=14.6;ReadPosRankSum=0.8;SOR=0.754	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	5	0	1	0
chr1	12828612	12828612	C	A	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon2:c.G178T:p.A60S	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00102373929772	.	0.00219649	0.0038	0.0021	0.0012	0.0006	0.0018	0.0052	0.0057	0.0034	0.0009605	25	26028	rs202092704	0.0057	0.0057	0.0058	0.0056	0.0085	0.0056	0.0056	0.0078	0.0075	0.0018	0.0015	7.661e-05	0.0085	0.0011	0.0029	0.0065	0.0046	0.0038	0.0037	0.0037	0.0039	0.0035	0.0059	0.0035	0.0034	0.0054	0.0052	0.0024	0	0.0015	0	0.0016	0.0008	0.0034	0.0059	0.0029	0.0034	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.769021	0.09562	N	0.898344	0.999988	0.18198	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-1.0508	0.14175	T	0.097	0.36393	T	10	0.008385986	0.00190	T	0.001024	0.01120	T	.	.	.	.	0.148003135375	0.14442	0.16678457885408635	0.16598	.	.	0.51758980751	0.41287	T	.	.	.	-0.0695255	0.41403	T	-0.337645	0.40612	T	0.0324580337677087	0.02382	T	.	.	.	0.06529126	0.13939	0.079766385	0.17985	0.06529126	0.13939	0.079766385	0.17985	-6.875	0.53114	T	.	.	0.114	0.22789	B	.	.	2.296188	0.29380	18.10	0.99407113350042575	0.63075	0.01103	0.04044	N	AEFI	0.026675	0.02044	N	-0.197640444418896	0.33231	1.88305	-0.495082702403588	0.22289	1.209874	1.14518241735908E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	0.503	0.16145	0.302000	0.18947	-10.114000	0.00738	0.399000	0.20540	0.250000	0.24849	0.000000	0.08366	0.231000	0.22761	0.0:0.7525:0.0:0.2475	3.773	0.08170	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	0.003191	0.005051	0.000000	0.000000	0.000000	0.008621	0.018405	0.000000	0.1667	3957.04	35	chr1	12828612	.	C	A	3957.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=50.63;QD=32.17;SOR=1.004	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3977,369,0	5	1	0	0
chr1	13050118	13050118	A	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1127C:p.L376P	.	565	955	2	0	0	2	0.00104603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00317095414753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218551659	2.804e-05	2.751e-05	2.42e-05	3.189e-05	0.0003	2.069e-05	1.806e-05	2.424e-05	2.138e-05	0	0	0	0	0	0.0003	3.368e-05	1.82e-05	1.302e-05	1.083e-05	7.05e-06	0	2.274e-05	1.896e-05	0	0	.	.	0	0	0	0	0	0	0	1.896e-05	0	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.000423	0.44522	D	0.091774	0.999615	0.81001	D	.	.	.	.	.	.	.	.	.	0.741	0.74098	-1.1523	0.00958	T	0.021	0.08778	T	10	0.7573215	0.76081	D	0.003171	0.06936	T	.	.	.	.	0.443695250439	0.43992	0.8449039722356115	0.84451	.	.	.	.	.	0.415447	0.76870	T	0.187585	0.72741	D	0.0316763	0.72387	D	0.96130944873236	0.66045	D	.	.	.	0.4681864	0.65179	0.3809994	0.63119	0.4681864	0.65180	0.3809994	0.63119	-10.512	0.76916	D	.	.	0.754	0.75217	P	.	.	3.837921	0.55523	23.6	0.99705592103526719	0.80936	0.42952	0.26991	N	AEFI	0.161593	0.28767	N	0.228420737593468	0.52581	3.431314	-0.0249699992766916	0.38591	2.275801	2.03028728933163E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	1.21	0.20240	2.960000	0.48853	6.494000	0.55767	0.347000	0.19874	0.985000	0.35982	0.768000	0.26677	0.498000	0.28972	1.0:0.0:0.0:0.0	4.584	0.11666	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.050562	0.066667	0.037594	0.071429	0	0.000000	0.060976	0.041667	0.08333	496.86	5	chr1	13050118	.	A	G	496.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.498;DP=191;ExcessHet=0;FS=9.587;MLEAC=1;MLEAF=0.083;MQ=32.09;MQRankSum=1.5;QD=12.74;ReadPosRankSum=0.437;SOR=3.362	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	5	0	1	0
chr1	15316468	15316468	G	A	splicing	FHAD1	NM_052929:exon9:c.1260+1G>A	.	.	.	429	1075	16	2	0	20	0.00921659	1.0000	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0037	0	0.0024	0	0.0032	0.0051	0	0.0038	0.0010608	164	154602	rs201462752	0.0036	0.0034	0.0035	0.0036	0.0260	0.0035	0.0034	0.0226	0.0213	0.0010	0.0018	0.0080	2.798e-05	0.0041	0.0260	0.0034	0.0047	0.0043	0.0028	0.0028	0.0028	0.0028	0.0041	0.0026	0.0025	0.0031	0.0030	0.0009	0	0.0034	0.0055	0	0.0038	0.0136	0.0035	0.0066	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.470746	0.00841	T	-0.448017	0.27916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.890183	0.80279	27.3	0.98762480573291489	0.45831	0.85382	0.44509	D	AEFBI	.	.	.	0.155085710763718	0.49053	3.110054	0.168766950585334	0.48145	3.034431	0.382346784428827	0.19972	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.95944	0.65039	4.93	4.93	0.64394	4.260000	0.58633	11.517000	0.93029	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.085	0.64480	964	0.07719	.;.;.;.	.	.	.	.	.	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	565.83	36	chr1	15316468	.	G	A	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.808;DP=222;ExcessHet=0;FS=2.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.256;SOR=0.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	5	0	1	0
chr1	15352925	15352925	A	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon19:c.A2437T:p.M813L	.	408	1111	3	0	0	3	0.00134831	.	.	.	3250325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0035537908923	.	0.000399361	0.0006	0	0	0	0	0	0	0.0016	9.7e-05	15	154602	rs555623090	9.075e-05	8.687e-05	4.653e-05	0.0001	0.0013	7.751e-05	7.28e-05	0.0011	0.0010	0	2.801e-05	0	0	0	0.0005	1.205e-05	0.0001	0.0013	7.893e-05	7.877e-05	1.287e-05	0.0001	0.0019	4.501e-05	3.516e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.413e-05	0	0.0019	1.0	0.00964	T	0.775	0.18178	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	1.08	0.39401	T	-0.2	0.10136	N	0.114	0.11340	-1.0229	0.22769	T	0.020	0.08546	T	9	0.0034737885	0.00062	T	0.003554	0.08092	T	0.025	0.05312	0.336	0.32491	0.0138822411134	0.00435	0.08189544683605388	0.08124	.	.	0.325125873089	0.14198	T	0.001878	0.03828	T	-0.473733	0.00806	T	-0.498813	0.22470	T	0.0603315338869289	0.07221	T	0.307569	0.05925	T	0.091515996	0.21446	0.13159445	0.31596	0.091515996	0.21446	0.13159445	0.31595	0.806	0.00159	T	.	.	0.091	0.15296	B	.;.;.;.	.;.;.;.	-1.430040	0.00339	0.006	0.35791736302263549	0.02266	0.00393	0.01973	N	AEFGBCI	0.045068	0.07329	N	-1.87668408767539	0.00383	0.01647472	-1.84825540164408	0.00617	0.02740374	0.99999999666296	0.74766	0.160855	0.03482	2	0.491513	0.07743	0	0.408882	0.06424	0	0.656636	0.63459	0	.	.	5.1	-7.02	0.01433	-2.272000	0.01247	-3.688000	0.02605	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.675000	0.33396	0.1415:0.3251:0.3941:0.1393	3.355	0.06748	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	487.83	33	chr1	15352925	.	A	T	487.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.85;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.047;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1038	5	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	108.7	75	chr1	15559540	.	G	C	108.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.889;DP=597;ExcessHet=0;FS=264.778;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=-0.019;SOR=9.25	GT:AD:DP:GQ:PL	./.:75,0:75:0:0,0,1587	4	0	1	1
chr1	15774723	15774723	G	A	exonic	FBLIM1	.	nonsynonymous SNV	FBLIM1:NM_001024216:exon5:c.G526A:p.A176T,FBLIM1:NM_001024215:exon6:c.G817A:p.A273T,FBLIM1:NM_017556:exon7:c.G817A:p.A273T,FBLIM1:NM_001350151:exon8:c.G817A:p.A273T	.	.	.	.	.	.	.	.	.	.	.	3442347	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.112076679042	.	.	0.0001	9.623e-05	8.639e-05	0	0	0.0002	0	0	1.94e-05	3	154602	rs199815548	0.0001	0.0001	9.257e-05	0.0001	0.0001	8.915e-05	8.399e-05	0.0001	0.0001	5.974e-05	8.944e-05	0	0	0	0	0.0001	6.623e-05	1.159e-05	0.0001	0.0001	0.0002	8.071e-05	0.0002	7.578e-05	6.282e-05	0.0001	9.896e-05	2.412e-05	0	6.552e-05	0	0.0002	0	0	0.0002	0.0005	0	0.56	0.23721	T	0.53	0.44106	T	0.604	0.57599	P	0.207	0.39801	B	0.192233	0.16816	N	0.611535	0.999981	0.18198	N	1.34	0.33385	L	-2.2	0.87352	D	-1.15	0.32791	N	0.224	0.25130	-0.5928	0.65109	T	0.403	0.75388	T	10	0.13462776	0.25620	T	0.112077	0.79009	D	0.176	0.44373	.	.	0.850876626233	0.84944	0.30320613368485094	0.30233	0.297358880734	0.32117	0.361086308956	0.19544	T	0.162235	0.50681	T	-0.301507	0.08518	T	-0.39657	0.33784	T	0.0503077790833321	0.05555	T	0.887511	0.64352	D	0.03068455	0.02774	0.04782239	0.06973	0.03068455	0.02774	0.04782239	0.06972	-8.751	0.68734	D	.	.	0.078	0.12276	B	.;.;.;.	.;.;.;.	1.581973	0.20241	14.66	0.99310930871668357	0.59017	0.16309	0.19329	N	AEFBCI	0.060968	0.11623	N	-0.44847412373405	0.23791	1.280166	-0.460375785595454	0.23255	1.267241	0.00227156832066716	0.09286	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.1	1.81	0.24139	0.283000	0.18605	4.666000	0.44258	-1.086000	0.01550	0.025000	0.20085	1.000000	0.68203	0.901000	0.43729	0.187:0.0:0.6554:0.1576	6.089	0.19206	725	0.54935	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-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	.	.	.	.	.	.	.	.	0.08333	566.83	37	chr1	15774723	.	G	A	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.885;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1176	5	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.25	3686.12	541	chr1	16563946	.	C	T	3686.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.933;DP=3724;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.54;MQRankSum=-8.143;QD=2.36;ReadPosRankSum=0.349;SOR=0.825	GT:AD:DP:GQ:PL	0/0:618,0:618:99:0,120,1800	3	0	3	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.25	5064.03	698	chr1	16563989	.	G	C	5064.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.551;DP=4498;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.84;MQRankSum=-4.067;QD=2.43;ReadPosRankSum=-0.537;SOR=0.817	GT:AD:DP:GQ:PL	0/0:618,0:618:99:0,120,1800	3	0	3	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3333	27548.0	710	chr1	16564107	.	T	G	27548.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.125;DP=4528;ExcessHet=3.1439;FS=1.2;MLEAC=4;MLEAF=0.333;MQ=55.43;MQRankSum=10.37;QD=9.21;ReadPosRankSum=-0.193;SOR=0.834	GT:AD:DP:GQ:PL	0/0:640,0:640:99:0,120,1800	2	0	4	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.25	6034.03	550	chr1	16564112	.	G	A	6034.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.6;DP=4304;ExcessHet=1.383;FS=1.499;MLEAC=3;MLEAF=0.25;MQ=54.9;MQRankSum=6.08;QD=2.7;ReadPosRankSum=-0.91;SOR=0.806	GT:AD:DP:GQ:PL	0/0:640,0:640:99:0,120,1800	3	0	3	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:385,253:638:99:6161,0,12085	0	0	6	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:482,128:610:99:2179,0,16779	0	0	6	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.08333	1165.83	137	chr1	16567226	.	A	C	1165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.15;DP=2660;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.98;MQRankSum=-2.171;QD=0.64;ReadPosRankSum=0.211;SOR=0.732	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	5	0	1	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.08333	86.83	471	chr1	16569091	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.405;DP=1175;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.083;MQ=42.42;MQRankSum=-0.705;QD=0.18;ReadPosRankSum=0.52;SOR=0.668	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	5	0	1	0
chr1	16569177	16569177	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00466504103054	.	.	0.0007	0.0002	0.0002	0.0002	0.0006	0.0010	0	0.0001	3.84e-05	1	26028	rs770782176	2.143e-05	3.8e-05	1.784e-05	2.502e-05	0.0002	1.449e-05	1.218e-05	8.845e-05	6.764e-05	0	0	0	9.411e-05	0	0	1.042e-05	4.429e-05	0.0002	1.083e-05	3.278e-05	0	2.267e-05	2.071e-05	0	0	.	.	0	0	0	0	0	0	0	2.071e-05	0	0	.	.	.	0.521	0.10429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.22742	.	.	.	.	.	.	.	0.026615262	0.00824	T	0.004665	0.11566	T	.	.	.	.	0.0986583533028	0.09354	0.012333586343959183	0.01192	.	.	0.471973478794	0.34952	T	.	.	.	-0.58113	0.00190	T	-1.07253	0.00046	T	.	.	.	0.630337	0.24523	T	.	.	.	.	.	.	.	.	-6.378	0.49338	T	.	.	0.115	0.23077	B	.;.	.;.	-0.111868	0.03571	0.692	0.52479155039686554	0.04756	0.00456	0.02204	N	AEFBCI	0.022563	0.01144	N	.	.	.	.	.	.	0.0150520228551038	0.12669	0.295142	0.05270	0	0.264834	0.04865	2	0.271638	0.05368	0	0.322829	0.05601	0	.	.	0.575	-1.15	0.09211	-0.985000	0.03861	-7.478000	0.01148	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	463	0.78548	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002273	0.006173	0.001366	0.004348	0.000000	0.000000	0.003497	0.000000	0.08333	286.83	36	chr1	16569177	.	G	A	286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=743;ExcessHet=0;FS=5.173;MLEAC=1;MLEAF=0.083;MQ=34.05;MQRankSum=1.34;QD=0.8;ReadPosRankSum=0.101;SOR=1.139	GT:AD:DP:GQ:PL	0/1:313,44:357:99:297,0,8368	5	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	2153.18	221	chr1	16577387	.	T	C	2153.18	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.21;DP=1295;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=40.47;MQRankSum=0.736;QD=3.18;ReadPosRankSum=-0.328;SOR=0.775	GT:AD:DP:GQ:PL	0/1:158,65:223:99:1529,0,4187	3	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3333	1202.22	52	chr1	16579293	.	A	G	1202.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.45;DP=312;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.29;ReadPosRankSum=-0.469;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:99:0|1:16579293_A_G:264,0,975:16579293	2	0	4	0
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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3333	1200.96	52	chr1	16579294	.	T	C	1200.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.25;DP=313;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.28;ReadPosRankSum=-0.363;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:99:0|1:16579293_A_G:264,0,975:16579293	2	0	4	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3333	515.95	52	chr1	16579305	.	G	A	515.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.93;DP=292;ExcessHet=3.1439;FS=79.332;MLEAC=4;MLEAF=0.333;MQ=35.81;MQRankSum=0.073;QD=3.94;ReadPosRankSum=0.406;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:16579305_G_A:102,0,850:16579305	2	0	4	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.3333	385.95	52	chr1	16579308	.	G	C	385.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.18;DP=294;ExcessHet=3.1439;FS=66.33;MLEAC=4;MLEAF=0.333;MQ=35.87;MQRankSum=0.073;QD=2.9;ReadPosRankSum=0.078;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:16579305_G_A:102,0,850:16579305	2	0	4	0
chr1	16582562	16582562	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1077	28	0	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4754	0.4827	0.4804	0.4601	0.4654	0.4720	0.4739	0.4927	0.0005379	14	26028	rs202075504	0.0001	0.0042	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	8.107e-05	0.0003	0.0003	0	0.0002	0	0.0001	0.0002	1.407e-05	0.0002	0.0037	0.0002	0.0002	0.0001	0.0001	0.0001	2.923e-05	1.914e-05	5.017e-05	0	0.0001	0	0	0.0016	0	7.615e-05	0	0	.	.	.	0.653	0.06762	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.0016178787	0.00019	T	.	.	.	.	.	.	.	.	.	0.041448114611802936	0.04089	.	.	0.573401212692	0.49158	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.490951	0.15096	T	.	.	.	.	.	.	.	.	-6.392	0.49448	T	.	.	0.057	0.00563	B	.;.	.;.	-0.393675	0.02236	0.227	0.38224358324587865	0.02565	0.00012	0.00170	N	AEFBI	0.020308	0.00789	N	.	.	.	.	.	.	3.41978884559381E-4	0.06626	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.345	0.11997	-1.666000	0.02065	-13.491000	0.00455	-2.340000	0.00311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4969:0.3097:0.0:0.1934	2.485	0.04316	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.85	58	chr1	16582562	.	A	C	55.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=424;ExcessHet=0;FS=4.999;MLEAC=1;MLEAF=0.083;MQ=43.78;MQRankSum=-2.291;QD=0.87;ReadPosRankSum=-2.025;SOR=1.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:99:.:.:0,120,1800:.	5	0	1	0
chr1	16582566	16582566	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	417	1073	32	0	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4756	0.4830	0.4809	0.4604	0.4656	0.4722	0.475	0.4928	0.0005379	14	26028	rs200499873	5.467e-05	0.0033	5.252e-05	5.678e-05	8.616e-05	4.305e-05	3.942e-05	4.225e-05	3.763e-05	0	8.616e-05	0.0001	0	6.108e-05	0	5.576e-05	0.0001	0	9.485e-05	0.0031	0.0001	6.953e-05	0.0002	5.693e-05	4.594e-05	8.22e-06	3.08e-06	4.962e-05	0	6.813e-05	0	0	0.0009	0	1.51e-05	0	0.0002	.	.	.	0.516	0.16522	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.0016776323	0.00021	T	.	.	.	.	.	.	.	.	.	0.04361887031632314	0.04306	.	.	0.572986721992	0.49099	T	.	.	.	-0.605691	0.00135	T	-1.10781	0.00023	T	.	.	.	0.876612	0.58915	D	.	.	.	.	.	.	.	.	-6.598	0.51038	T	.	.	0.125	0.26263	B	.;.	.;.	-0.141115	0.03405	0.616	0.36035183622711708	0.02295	0.00012	0.00170	N	AEFBI	0.018223	0.00537	N	.	.	.	.	.	.	6.88243859610788E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	0.783	0.17717	-0.435000	0.07000	-5.842000	0.01578	-0.868000	0.02581	0.011000	0.18532	0.000000	0.08366	0.007000	0.07825	0.0:0.0:0.4062:0.5938	5.184	0.14502	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006517	0.000000	0.006812	0.011111	0.000000	0.008929	0.010949	0.004000	0.08333	34.85	58	chr1	16582566	.	T	G	34.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=408;ExcessHet=0;FS=7.906;MLEAC=1;MLEAF=0.083;MQ=43.38;MQRankSum=-2.442;QD=0.59;ReadPosRankSum=-1.9;SOR=2.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:99:.:.:0,120,1800:.	5	0	1	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016304	0.000000	0.022039	0.008772	0.000000	0.008772	0.015267	0.025000	0.1667	121.06	130	chr1	16585589	.	A	G	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.14;DP=513;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.19;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.14;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	4	0	2	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013253	0.000000	0.013736	0.008772	0.000000	0.008772	0.015267	0.020833	0.1667	121.06	130	chr1	16585590	.	T	C	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.99;DP=512;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.17;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.583;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	4	0	2	0
chr1	16589981	16589981	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	384	1109	29	0	0	29	0.0129061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275	0.1234	0.0087	0.0260	0.0210	0.0210	0.0321	0.0187	0.0018826	49	26028	rs201201393	0.0002	0.0010	0.0002	0.0002	0.0015	0.0002	0.0002	0.0012	0.0011	0.0015	0.0001	7.842e-05	7.679e-05	0	0.0012	0.0002	0.0003	0.0001	0.0013	0.0053	0.0014	0.0012	0.0039	0.0011	0.0011	0.0034	0.0032	0.0039	0	0.0004	0.0015	0.0004	0	0	0.0004	0.0010	0.0002	.	.	.	0.387	0.15650	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.002197355	0.00032	T	.	.	.	.	.	.	.	.	.	0.015120513214505648	0.01468	.	.	0.524389743805	0.42245	T	.	.	.	-0.403559	0.02194	T	-0.817461	0.01504	T	.	.	.	0.856914	0.54589	D	.	.	.	.	.	.	.	.	-8.971	0.67510	D	.	.	0.190	0.40858	B	.;.	.;.	1.278456	0.16779	12.76	0.22335699334227638	0.00894	0.00119	0.00751	N	AEFI	0.030811	0.03172	N	.	.	.	.	.	.	0.999694517471124	0.41870	0.295142	0.05270	0	0.156256	0.03748	2	0.121787	0.03316	0	0.322829	0.05601	0	.	.	0.548	-1.1	0.09367	-0.173000	0.09844	-20.000000	0.00162	-0.731000	0.03728	0.035000	0.20724	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.054810	0.024096	0.081967	0.042017	0.062500	0.060345	0.051724	0.042308	0.08333	33.84	172	chr1	16589981	.	G	C	33.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.05;DP=1154;ExcessHet=0;FS=31.479;MLEAC=1;MLEAF=0.083;MQ=41.25;MQRankSum=-3.363;QD=0.15;ReadPosRankSum=-0.614;SOR=3.996	GT:AD:DP:GQ:PL	0/1:211,22:233:44:44,0,5938	5	0	1	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	865.06	442	chr1	16757526	.	C	G	865.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.467;DP=2553;ExcessHet=0.4139;FS=3.119;MLEAC=2;MLEAF=0.167;MQ=41.01;MQRankSum=0.705;QD=1.1;ReadPosRankSum=1.59;SOR=0.391	GT:AD:DP:GQ:PL	0/0:385,0:385:99:0,120,1800	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1112,96,0	0	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	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	.	.	.	.	.	.	.	.	0.1667	294.06	269	chr1	16760446	.	C	T	294.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.64;DP=1695;ExcessHet=0.4139;FS=14.924;MLEAC=2;MLEAF=0.167;MQ=46.16;MQRankSum=0.679;QD=0.51;ReadPosRankSum=-1.193;SOR=2.284	GT:AD:DP:GQ:PL	0/0:231,0:231:99:0,120,1800	4	0	2	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	251.83	703	chr1	16760964	.	A	G	251.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=4023;ExcessHet=0;FS=4.372;MLEAC=1;MLEAF=0.083;MQ=56.92;MQRankSum=-1.744;QD=0.41;ReadPosRankSum=-1.466;SOR=1.146	GT:AD:DP:GQ:PL	0/0:620,0:620:99:0,120,1800	5	0	1	0
chr1	16944129	16944129	A	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon14:c.A1838G:p.Q613R	.	374	1142	6	0	0	6	0.00262009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.013891286465	.	.	0.0011	0	0	0	0	0.0022	0	0.0006	0.0002652	41	154602	rs760655232	0.0004	0.0004	0.0003	0.0004	0.0076	0.0003	0.0003	0.0056	0.0049	0.0002	0.0003	0.0022	0	0	0.0076	0.0003	0.0007	0.0006	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0003	0.0026	0	0	0.0034	0.0004	0.0024	0.0010	0.045	0.40832	D	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	0.990783	0.41235	D	.	.	.	2.83	0.10771	T	-1.77	0.41809	N	0.205	0.22742	-1.1072	0.03321	T	0.057	0.23942	T	9	0.014759302	0.00310	T	0.013891	0.33629	T	0.056	0.15993	.	.	0.284539287134	0.28064	0.11087431664339958	0.11016	0.26085393997	0.28643	0.366038680077	0.20262	T	.	.	.	-0.398401	0.02372	T	-0.44246	0.28533	T	0.0737175212987907	0.09164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.03479	B	.	.	2.967388	0.39537	21.0	0.99372340517603464	0.61498	0.95982	0.67001	D	AEFDBI	0.458031	0.50923	N	0.321967037229203	0.57278	3.894511	0.34025598994847	0.57922	3.960046	0.917140679428216	0.26533	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	4.48	4.48	0.53973	2.931000	0.48625	5.119000	0.47573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8405:0.0:0.0:0.1595	9.423	0.37724	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.009615	0.020690	0.000000	0.000000	0.009740	0.000000	0.08333	209.83	52	chr1	16944129	.	A	G	209.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=272;ExcessHet=0;FS=2.493;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.625;SOR=1.068	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	5	0	1	0
chr1	17270928	17270928	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon8:c.C881T:p.A294V	Uncombable hair syndrome, Autosomal recessive	411	1102	9	0	0	9	0.00406688	.	.	YES	361772	PADI3-related_disorder|not_provided|Uncombable_hair_syndrome_1	.|MedGen:C3661900|MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.448	.	0.0074	0.00279553	0.0067	0.0009	0.0020	0	0.0056	0.0097	0.0055	0.0052	0.006714	1038	154602	rs144080386	0.0077	0.0077	0.0077	0.0077	0.0084	0.0076	0.0075	0.0082	0.0082	0.0011	0.0031	0.0162	2.519e-05	0.0073	0.0028	0.0084	0.0069	0.0059	0.0062	0.0062	0.0062	0.0062	0.0093	0.0059	0.0058	0.0087	0.0085	0.0016	0	0.0055	0.0181	0.0002	0.0068	0.0034	0.0093	0.0024	0.0046	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053221	0.99997	0.53665	D	3.14	0.88230	M	1.44	0.32722	T	-3.64	0.69835	D	0.985	0.99410	-0.5675	0.66114	T	0.195	0.54927	T	10	0.02340281	0.00611	T	.	.	.	0.448	0.74935	.	.	0.514980250562	0.51141	0.7737417385154324	0.77324	0.51335870114	0.49332	0.731342971325	0.71702	T	0.222814	0.58677	T	-0.365675	0.03819	T	-0.287656	0.46015	T	0.0248844591339173	0.01257	T	.	.	.	0.7620526	0.81574	0.66998434	0.80638	0.7620526	0.81576	0.66998434	0.80639	-7.261	0.55918	T	.	.	0.469	0.63129	A	.	.	4.461336	0.69433	25.4	0.99917547079578173	0.98518	0.98826	0.87362	D	AEFDI	0.786183	0.71634	D	0.903074328166432	0.91909	11.12968	0.851287722356534	0.93089	11.81852	0.999999999992077	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	7.376000	0.78918	4.062000	0.41595	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.0:1.0:0.0:0.0	18.078	0.89362	689	0.59000	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	1013.83	37	chr1	17270928	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.1;DP=241;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.371;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	5	0	1	0
chr1	18482857	18482857	G	C	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1876C:p.A626P	.	431	1065	24	2	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	.	0.0002	0.0339457	0.0195	0.0005	0.0012	0.0001	0	0.0002	0.0176	0.1335	0.0157695	2438	154602	rs137875112	0.0077	0.0077	0.0043	0.0111	0.1216	0.0076	0.0075	0.1197	0.1189	0.0005	0.0002	0	7.561e-05	0	0.0038	0.0002	0.0082	0.1216	0.0045	0.0045	0.0025	0.0065	0.1363	0.0042	0.0041	0.1277	0.1243	0.0002	0	0.0003	0	0.0006	0	0	7.35e-05	0.0019	0.1363	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.67	0.78151	M	-0.28	0.67543	T	-4.99	0.82221	D	0.276	0.31253	0.069	0.83603	D	0.508	0.81498	D	10	0.002309084	0.00034	T	.	.	.	0.669	0.87722	.	.	.	.	0.855593517401203	0.85522	1.34841275358	0.84028	0.710741639137	0.68701	T	0.134846	0.46632	T	-0.162255	0.26414	T	0.101277	0.76992	D	0.0808052761480006	0.10090	T	0.818018	0.47523	T	0.93457544	0.94697	0.8894984	0.94231	0.93457544	0.94697	0.8894984	0.94231	-10.349	0.75975	D	.	.	0.383	0.58588	A	.	.	5.220644	0.87614	29.3	0.99748549339016168	0.84077	0.99423	0.95841	D	AEFDBHI	0.957521	0.97676	D	0.813802399230385	0.86962	9.056622	0.76634760555131	0.87372	9.199578	0.999999958725453	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	8.019000	0.89128	11.799000	0.96598	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.059	0.86417	975	0.05339	.	.	.	.	.	.	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	0.016616	0.000000	0.000000	0.011696	0.050000	0.000000	0.003049	0.068182	0.08333	1278.83	106	chr1	18482857	.	G	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.862;DP=302;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-2.688;SOR=0.493	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr1	18955866	18955866	C	A	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon1:c.G467T:p.R156L	.	407	1114	1	0	0	1	0.000448632	.	.	.	2280822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.513092391293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.085	0.41074	T	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999602	0.47795	D	0.975	0.24501	L	0.59	0.53943	T	-1.41	0.34795	N	0.364	0.40565	-0.6760	0.61557	T	0.248	0.61785	T	9	0.43092364	0.57484	T	0.513092	0.95331	D	0.289	0.60808	0.642	0.77903	0.455265801863	0.45150	0.8290949623820782	0.82867	2.28023288206	0.96325	0.894894897938	0.95855	D	0.010291	0.09303	T	0.0274211	0.55379	T	-0.198388	0.54800	T	0.893050849437714	0.54421	D	0.59994	0.22366	T	0.37559345	0.58995	0.44524443	0.67679	0.37559345	0.58996	0.44524443	0.67679	-2.789	0.08082	T	.	.	0.709	0.73347	P	.	.	5.136978	0.85987	28.8	0.97241286631421786	0.32996	0.44275	0.27282	N	ALL	0.287256	0.39945	N	0.207672037401159	0.51571	3.337239	0.14854246744186	0.47064	2.942393	1.0	0.98316	0.443343	0.08805	1	0.218748	0.04544	0	0.666236	0.60216	0	0.249971	0.05119	0	.	.	4.19	4.19	0.48645	0.013000	0.13206	3.857000	0.40118	0.428000	0.20880	0.668000	0.28331	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.416	0.74698	916	0.20744	Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.08333	339.83	37	chr1	18955866	.	C	A	339.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.18;DP=189;ExcessHet=0;FS=8.644;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.16;SOR=2.494	GT:AD:DP:GQ:PL	0/1:24,11:35:99:350,0,560	5	0	1	0
chr1	19078050	19078050	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon104:c.G15250A:p.V5084M	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00449645799926	.	0.000798722	0.0001	0	0	0.0008	0	7.604e-05	0	6.199e-05	0.00011	17	154602	rs2274010	6.43e-05	6.43e-05	5.99e-05	6.876e-05	0.0014	5.361e-05	4.976e-05	0.0011	0.0010	0	0	0	0.0014	0	0.0003	1.889e-05	0.0001	0.0001	7.224e-05	7.218e-05	6.425e-05	8.06e-05	0.0021	3.969e-05	3.126e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	0	0	0	0.038	0.42783	D	0.01	0.65728	D	0.624	0.40023	P	0.629	0.51727	P	0.002880	0.35804	N	0.240271	0.984208	0.40114	D	1.445	0.36358	L	1.54	0.30133	T	-1.67	0.45949	N	0.188	0.21969	-0.9870	0.33347	T	0.111	0.39841	T	10	0.017101645	0.00363	T	0.004496	0.11031	T	0.100	0.28662	.	.	0.0675242888579	0.06100	0.2864402572726692	0.28557	0.261685418496	0.28716	0.638859510422	0.58402	T	0.171343	0.51942	T	-0.429492	0.01493	T	-0.435263	0.29338	T	0.0830561027329034	0.10373	T	0.864214	0.56114	D	0.09904224	0.23370	0.08759371	0.20369	0.088266514	0.20583	0.09088626	0.21339	-4.426	0.29907	T	.	.	0.128	0.27613	B	.;.;.	.;.;.	2.359136	0.30252	18.38	0.98975764057164917	0.49620	0.85525	0.44666	D	AEFBI	0.275648	0.39056	N	0.0847406717777139	0.45751	2.826483	0.184991340370432	0.49024	3.110722	0.999997418763758	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.92	5.0	0.66209	1.533000	0.35645	0.332000	0.17294	0.599000	0.40250	0.834000	0.30193	0.012000	0.20211	0.999000	0.91618	0.1517:0.7735:0.0:0.0748	8.783	0.33962	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	927.83	34	chr1	19078050	.	C	T	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.401;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=2.94;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	5	0	1	0
chr1	19177568	19177568	T	C	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon19:c.A2530G:p.M844V	.	419	1091	12	0	0	12	0.00546946	.	.	.	696334	not_provided|UBR4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0059	0.00359425	0.0053	0.0026	0.0023	0	0.0038	0.0073	0	0.0047	0.0055627	860	154602	rs35444108	0.0079	0.0079	0.0080	0.0078	0.0091	0.0078	0.0077	0.0089	0.0089	0.0015	0.0027	0.0102	2.519e-05	0.0036	0.0059	0.0091	0.0066	0.0046	0.0056	0.0056	0.0060	0.0051	0.0089	0.0053	0.0051	0.0083	0.0081	0.0020	0.0307	0.0028	0.0069	0	0.0033	0.0034	0.0089	0.0033	0.0042	0.677	0.04469	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.429072	0.12771	N	0.778290	0.998825	0.21877	N	-0.345	0.03330	N	0.96	0.42888	T	-0.64	0.18670	N	0.271	0.30687	-0.9545	0.40185	T	0.022	0.09559	T	10	0.0035018027	0.00063	T	.	.	.	0.037	0.09474	.	.	0.043077524339	0.03247	0.10743749334342621	0.10672	0.149145437776	0.16817	0.322998344898	0.13875	T	0.09611	0.39759	T	-0.615563	0.00117	T	-0.649028	0.09022	T	0.00175238229398778	0.00018	T	0.648035	0.25918	T	0.02501936	0.01394	0.038397945	0.03700	0.02501936	0.01394	0.038397945	0.03700	-2.242	0.04249	T	.	.	0.063	0.01470	B	.	.	1.244399	0.16405	12.52	0.62420298463653634	0.06958	0.67405	0.33421	D	AEFBCI	0.084828	0.17193	N	-0.929241402391599	0.10163	0.4843388	-0.799595066443798	0.14505	0.7582325	0.0159463474123684	0.12774	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	-4.19	0.03573	0.428000	0.21114	-0.563000	0.08467	0.665000	0.62972	0.996000	0.39380	0.058000	0.21979	0.966000	0.53164	0.093:0.2063:0.3388:0.362	2.985	0.05601	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	772.83	43	chr1	19177568	.	T	C	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=250;ExcessHet=0;FS=4.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=2.23;SOR=1.253	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1192	5	0	1	0
chr1	20721901	20721901	A	C	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon9:c.T911G:p.L304R,SH2D5:NM_001103161:exon10:c.T1163G:p.L388R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0495488266521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.007	0.69154	D	0.997	0.70673	D	0.961	0.70482	D	0.011870	0.29372	N	0.145763	0.677106	0.33198	D	1.735	0.44892	L	-0.08	0.63911	T	-1.04	0.27259	N	0.174	0.21710	-0.5149	0.68106	T	0.297	0.66858	T	10	0.2631122	0.43785	T	0.049549	0.63858	D	0.129	0.35316	0.361	0.36548	0.801249722239	0.79939	0.6618741171561944	0.66124	0.169488412035	0.19104	0.600802659988	0.53018	T	0.021863	0.16951	T	-0.105144	0.35572	T	-0.388809	0.34691	T	0.731326937675476	0.42279	D	0.537446	0.18074	T	0.15757546	0.35499	0.14599909	0.34605	0.15757546	0.35498	0.14599909	0.34604	-3.152	0.11903	T	.	.	0.117	0.23640	B	.;.	.;.	3.103764	0.41837	21.4	0.99643580770613782	0.76819	0.86123	0.45345	D	AEFDBI	0.398115	0.47392	N	0.0711729682668847	0.45120	2.774042	0.0570084072478574	0.42412	2.564803	0.999999798120521	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.01	3.87	0.43823	1.969000	0.40134	6.053000	0.53107	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.8447:0.1553:0.0:0.0	11.122	0.47515	838	0.37812	.;SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1140.83	106	chr1	20721901	.	A	C	1140.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.65;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.019;SOR=0.744	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1231	5	0	1	0
chr1	20724226	20724226	C	T	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon6:c.G404A:p.R135H,SH2D5:NM_001103161:exon7:c.G656A:p.R219H	.	381	1118	22	1	0	24	0.0106195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00751558335627	0.0017	0.000798722	0.0017	0.0004	0.0007	0	0.0002	0.0020	0.0023	0.0032	0.0015847	245	154602	rs41265079	0.0018	0.0018	0.0019	0.0018	0.0047	0.0018	0.0018	0.0033	0.0028	0.0002	0.0006	0.0074	0	0.0003	0.0047	0.0019	0.0019	0.0028	0.0013	0.0013	0.0013	0.0013	0.0027	0.0011	0.0011	0.0016	0.0015	0.0003	0	0.0009	0.0063	0	9.414e-05	0.0102	0.0019	0.0014	0.0027	0.008	0.59928	D	0.058	0.46182	T	0.997	0.70673	D	0.707	0.54387	P	0.015114	0.28339	N	0.337866	0.98663	0.24597	N	1.79	0.46772	L	.	.	.	-1.3	0.32590	N	0.437	0.48780	-0.8884	0.49071	T	0.164	0.50094	T	9	0.007415533	0.00169	T	0.007516	0.19952	T	0.130	0.35528	.	.	0.458283960492	0.45451	0.2855111255774298	0.28464	0.542418983261	0.51350	0.505433797836	0.39584	T	0.025454	0.19032	T	-0.335884	0.05678	T	-0.259241	0.48899	T	0.0102233049630108	0.00139	T	0.579042	0.20891	T	0.105619356	0.24973	0.07811593	0.17466	0.105619356	0.24973	0.07811593	0.17466	-5.167	0.38635	T	.	.	0.095	0.14979	B	.;.	.;.	4.242455	0.64330	24.7	0.99928835367590518	0.99222	0.50067	0.28577	D	AEFDBI	0.120305	0.23442	N	0.192860258940285	0.50855	3.271726	0.0967645435319828	0.44384	2.721337	0.999994868197395	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.82	4.82	0.61641	0.866000	0.27608	4.027000	0.41303	0.599000	0.40250	0.463000	0.26667	0.999000	0.35428	0.385000	0.26447	0.0:1.0:0.0:0.0	14.921	0.70481	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	838.83	35	chr1	20724226	.	C	T	838.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=237;ExcessHet=0;FS=3.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.051;SOR=0.581	GT:AD:DP:GQ:PL	0/1:29,32:61:99:849,0,660	5	0	1	0
chr1	21238138	21238138	C	T	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon9:c.G1349A:p.S450N,ECE1:NM_001113349:exon10:c.G1376A:p.S459N,ECE1:NM_001113348:exon11:c.G1337A:p.S446N,ECE1:NM_001397:exon11:c.G1385A:p.S462N	.	0	1509	13	0	0	13	0.00428901	.	.	.	249709	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0136730346543	0.0029	0.00219649	0.0030	0.0014	0.0012	0	0.0008	0.0042	0.0022	0.0027	0.0031565	488	154602	rs141146885	0.0047	0.0048	0.0049	0.0046	0.0057	0.0046	0.0046	0.0056	0.0055	0.0008	0.0021	0.0022	0	0.0007	0.0024	0.0057	0.0037	0.0019	0.0033	0.0033	0.0039	0.0028	0.0052	0.0031	0.0030	0.0048	0.0046	0.0011	0.0439	0.0023	0.0020	0	0.0008	0	0.0052	0.0047	0.0019	0.383	0.14793	T	0.415	0.15305	T	0.0	0.02946	B	0.0	0.04355	B	0.037610	0.24381	N	0.508327	0.988695	0.24382	N	-0.055	0.04927	N	-0.79	0.73739	T	-0.65	0.20145	N	0.085	0.10626	-1.0541	0.13278	T	0.100	0.37265	T	10	0.0057007372	0.00127	T	0.013673	0.33248	T	0.082	0.23913	.	.	0.256237801699	0.25221	0.37178015656178914	0.37092	0.539398488263	0.51172	0.328603953123	0.14722	T	0.186706	0.54008	T	-0.588258	0.00172	T	-0.611229	0.11885	T	0.00204115745109703	0.00021	T	0.728927	0.36808	T	0.057204656	0.11356	0.05784996	0.10590	0.07784044	0.17692	0.06402025	0.12767	-3.884	0.32121	T	0.10285320044975772	0.07865	0.055	0.00647	B	.;.;.;.;.;.	.;.;.;.;.;.	1.411872	0.18276	13.65	0.85322012358596189	0.15821	0.23980	0.22249	N	AEFDGBHCI	0.095255	0.19248	N	-0.765677098490011	0.14212	0.7060748	-0.600060566350599	0.19491	1.045999	0.999424051776111	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.711	0.71501	0	.	.	5.55	0.51	0.16183	1.049000	0.30001	0.450000	0.18513	-0.181000	0.10308	0.998000	0.41325	0.998000	0.33993	0.905000	0.44082	0.1351:0.2448:0.14:0.4801	1.278	0.01912	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	682.83	47	chr1	21238138	.	C	T	682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.075;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.14;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1259	5	0	1	0
chr1	21879108	21879108	T	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon18:c.A2360G:p.N787S,HSPG2:NM_005529:exon18:c.A2357G:p.N786S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	.	205727	Lethal_Kniest-like_syndrome|not_provided|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	0.0065	0.00179712	0.0067	0.0012	0.0020	0	0.0157	0.0095	0.0088	0.0017	0.0063324	979	154602	rs143736974	0.0070	0.0070	0.0070	0.0071	0.0076	0.0069	0.0069	0.0074	0.0074	0.0008	0.0023	0.0077	2.519e-05	0.0159	0.0024	0.0076	0.0068	0.0029	0.0061	0.0061	0.0060	0.0061	0.0087	0.0057	0.0056	0.0081	0.0079	0.0013	0	0.0046	0.0086	0.0002	0.0149	0.0034	0.0087	0.0057	0.0019	0.252	0.17014	T	0.018	0.59732	D	0.999	0.77913	D	0.992	0.80445	D	0.000738	0.42129	D	0.000000	0.745274	0.29693	N	2.905	0.84014	M	-0.22	0.66474	T	-2.78	0.58896	D	0.507	0.53884	-0.1510	0.78892	T	0.420	0.76550	T	10	0.012245119	0.00264	T	.	.	.	0.375	0.69358	.	.	0.609643014007	0.60650	0.27630792947456645	0.27543	0.183394758228	0.20629	0.496132850647	0.38290	T	0.314263	0.68595	T	-0.425831	0.01571	T	-0.375058	0.36300	T	0.0574038816292067	0.06754	T	0.894311	0.63332	D	0.48040593	0.65925	0.4265307	0.66427	0.48040593	0.65925	0.4265307	0.66427	-9.241	0.69235	D	.	.	0.198	0.42067	B	.	.	4.341864	0.66620	25.0	0.99827877460282632	0.91026	0.91085	0.52830	D	AEFBCI	0.660999	0.63137	D	0.647559683825149	0.76212	6.444776	0.558657061133332	0.72004	5.741643	0.999963396408416	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	4.08	0.46880	5.187000	0.64925	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.086:0.0:0.914	9.359	0.37349	796	0.45353	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs143736974	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	.	.	.	.	.	.	.	.	0.08333	314.83	36	chr1	21879108	.	T	C	314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.35;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.427;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,12:47:99:325,0,878	5	0	1	0
chr1	21885130	21885130	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon11:c.G1238A:p.R413Q,HSPG2:NM_005529:exon11:c.G1238A:p.R413Q	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1485	37	0	0	37	0.0123046	.	.	.	279231	Schwartz-Jampel_syndrome|not_provided|Lethal_Kniest-like_syndrome|HSPG2-related_disorder|not_specified	MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0238197730934	0.0021	0.000998403	0.0039	0.0004	0.0018	0.0001	0.0020	0.0042	0.0052	0.0088	0.0032018	495	154602	rs140621959	0.0026	0.0026	0.0024	0.0028	0.0147	0.0026	0.0025	0.0121	0.0112	0.0003	0.0009	0.0020	7.567e-05	0.0012	0.0147	0.0025	0.0034	0.0075	0.0020	0.0020	0.0021	0.0019	0.0072	0.0018	0.0018	0.0054	0.0047	0.0003	0	0.0005	0.0014	0	0.0015	0	0.0033	0.0043	0.0072	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.050725	0.23044	N	0.218384	0.999138	0.21587	N	0.15	0.08895	N	-0.91	0.75001	T	1.99	0.00412	N	0.127	0.12055	-1.0073	0.27758	T	0.157	0.48858	T	10	0.005518347	0.00122	T	0.02382	0.46796	T	0.140	0.37593	.	.	0.430126000877	0.42631	0.25159280604464684	0.25073	0.230382419694	0.25588	0.259878456593	0.04877	T	0.076264	0.35377	T	-0.529009	0.00389	T	-0.527956	0.19491	T	0.00212338852226029	0.00022	T	0.20368	0.02351	T	0.033911545	0.03704	0.03853892	0.03744	0.033911545	0.03704	0.03853892	0.03744	-1.412	0.01593	T	.	.	0.054	0.00328	B	.	.	2.511644	0.32436	19.04	0.45123287714577986	0.03519	0.17275	0.19766	N	AEFDBCI	0.045317	0.07398	N	-0.715268478795039	0.15593	0.7871554	-0.503924553067884	0.22046	1.195537	0.999999190658706	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.46	4.33	0.51083	2.786000	0.47479	3.448000	0.38427	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.867000	0.41218	0.0:0.0826:0.0:0.9174	9.779	0.39804	781	0.47532	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015121	0.005102	0.008174	0.032164	0.000000	0.008621	0.021472	0.026515	0.08333	1292.83	83	chr1	21885130	.	C	T	1292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.32;DP=287;ExcessHet=0;FS=8.104;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-1.213;SOR=1.69	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	192.83	34	chr1	21978396	.	G	A	192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-7.086;QD=1.99;ReadPosRankSum=-2.934;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	192.83	34	chr1	21978398	.	C	T	192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.6;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-7.086;QD=1.99;ReadPosRankSum=-2.896;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	5	0	1	0
chr1	23092707	23092707	C	G	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.G1555C:p.V519L,LUZP1:NM_033631:exon4:c.G1555C:p.V519L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00870871267601	.	0.000199681	1.647e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541053379	6.84e-06	6.84e-06	5.445e-06	8.25e-06	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.524	0.21678	T	0.065	0.23521	B	0.052	0.25551	B	0.076783	0.21142	N	0.336984	1	0.08975	N	2.32	0.66415	M	2.72	0.14284	T	-0.81	0.22294	N	0.139	0.13769	-0.9901	0.32576	T	0.035	0.15074	T	10	0.041465253	0.02805	T	0.008709	0.23001	T	0.054	0.15330	0.136	0.04008	0.151104730317	0.14643	0.09901928751807483	0.09832	0.172726620004	0.19448	0.340872913599	0.16569	T	0.082962	0.36947	T	-0.388632	0.02745	T	-0.593366	0.13376	T	0.0672046282537199	0.08253	T	0.737426	0.35417	T	0.0747616	0.16801	0.070021324	0.14827	0.0747616	0.16800	0.070021324	0.14827	-3.162	0.12022	T	.	.	0.086	0.17189	B	.;.;.	.;.;.	-0.492904	0.01890	0.156	0.94529430278913273	0.25027	0.21363	0.21375	N	AEFDBI	0.048633	0.08319	N	-0.783010907610374	0.13752	0.6798073	-0.847639827312331	0.13344	0.6917359	0.997921215051183	0.36199	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	0.514	0.16206	0.391000	0.20511	-1.932000	0.04475	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.192000	0.21661	0.0:0.6804:0.0:0.3196	10.038	0.41314	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1782.83	102	chr1	23092707	.	C	G	1782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.517;DP=526;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.387;SOR=0.76	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	5	0	1	0
chr1	23798628	23798628	C	T	exonic	GALE	.	nonsynonymous SNV	GALE:NM_001127621:exon3:c.G224A:p.R75H,GALE:NM_000403:exon4:c.G224A:p.R75H,GALE:NM_001008216:exon4:c.G224A:p.R75H	Galactose epimerase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2047591	UDPglucose-4-epimerase_deficiency	MONDO:MONDO:0009257,MedGen:C0751161,OMIM:230350,Orphanet:352,Orphanet:79238	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.046517305952	.	.	7.458e-05	0	0	0.0001	0	4.52e-05	0	0.0003	5.82e-05	9	154602	rs779150200	3.422e-05	3.489e-05	1.362e-05	5.503e-05	0.0004	2.633e-05	2.376e-05	0.0003	0.0003	5.977e-05	0	0	0.0001	3.755e-05	0	6.299e-06	0	0.0004	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.083	0.33091	T	0.074	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	0.129281	0.18701	N	0.555420	0.999962	0.18878	N	2.095	0.58118	M	-3.4	0.94260	D	-0.51	0.21215	N	0.145	0.14622	-0.1988	0.77702	T	0.658	0.88114	D	10	0.13247564	0.25215	T	0.046517	0.62494	D	0.275	0.59130	0.508	0.60386	0.756011584421	0.75379	0.28371950022271897	0.28284	0.171411341593	0.19308	0.272012114525	0.06406	T	0.705028	0.91539	D	-0.123491	0.32554	T	-0.104644	0.63036	T	0.0370834791155096	0.03170	T	0.717928	0.45757	T	0.101221815	0.23908	0.0826161	0.18871	0.101221815	0.23908	0.0826161	0.18870	-4.989	0.36720	T	0.12457358213334273	0.12243	0.068	0.03698	B	.;.;.;.;.;.	.;.;.;.;.;.	2.642549	0.34385	19.61	0.98940497784822834	0.48921	0.05991	0.11953	N	AEFBHCI	0.090879	0.18412	N	-0.710816093654013	0.15716	0.794533	-0.733148208325508	0.16138	0.8522473	0.999999932076589	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	3.52	0.037	0.13513	0.606000	0.23891	-0.271000	0.10347	0.526000	0.24426	0.192000	0.24212	0.000000	0.08366	0.923000	0.45890	0.0:0.2917:0.0:0.7083	8.173	0.30425	510	0.75209	NAD(P)-binding domain;NAD(P)-binding domain;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD(P)-binding domain;NAD(P)-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	629.83	35	chr1	23798628	.	C	T	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=235;ExcessHet=0;FS=1.025;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.535;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	5	0	1	0
chr1	23868280	23868280	C	G	exonic	FUCA1	.	nonsynonymous SNV	FUCA1:NM_000147:exon1:c.G7C:p.A3P	Fucosidosis, Autosomal recessive	5	1467	47	3	0	53	0.0177436	.	.	YES	280123	not_provided|FUCA1-related_disorder|Fucosidosis	MedGen:C3661900|.|MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0021	0.0133786	0.0161	0	0.0971	0	0	0.0087	0.0467	0.0181	0.0068498	1059	154602	rs61996282	0.0096	0.0096	0.0096	0.0097	0.0518	0.0095	0.0095	0.0498	0.0490	0.0019	0.0518	0.0013	0.0001	0.0015	0.0106	0.0088	0.0099	0.0157	0.0094	0.0094	0.0088	0.0100	0.0422	0.0090	0.0089	0.0395	0.0385	0.0023	0	0.0422	0.0012	0	0.0013	0.0068	0.0084	0.0118	0.0164	0.174	0.22486	T	0.084	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000389	0.00589	N	4.458410	1	0.08975	N	0.205	0.09354	N	0.63	0.53088	T	-0.34	0.12661	N	0.174	0.18649	-1.0848	0.06444	T	0.021	0.08639	T	10	0.0022031665	0.00032	T	.	.	.	0.067	0.19503	.	.	.	.	0.5235821115694509	0.52282	0.470944129722	0.46361	0.358692973852	0.19194	T	0.072016	0.34349	T	-0.58831	0.00172	T	-0.580599	0.14491	T	0.0198403468811232	0.00686	T	0.251175	0.03802	T	0.085943185	0.19958	0.11733206	0.28325	0.06121017	0.12649	0.10698687	0.25747	-3.762	0.20238	T	.	.	0.080	0.07985	B	.	.	0.094463	0.04974	1.537	0.98163784923902153	0.38797	0.03710	0.08995	N	ALL	0.164038	0.29039	N	-1.26523520428306	0.04101	0.1844868	-1.30639370058685	0.04347	0.2048423	1.0	0.98316	0.437478	0.07067	0	0.218748	0.04544	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.9	-3.58	0.04303	-2.153000	0.01373	-6.841000	0.01293	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2648:0.318:0.1932:0.2239	0.578	0.00661	639	0.64210	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	862.83	37	chr1	23868280	.	C	G	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=236;ExcessHet=0;FS=3.52;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.118;SOR=0.33	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	5	0	1	0
chr1	24108029	24108029	G	C	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon3:c.C206G:p.A69G	.	423	1085	14	0	0	14	0.00641026	.	.	.	2194833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.015330486493	0.0015	0.000599042	0.0013	0.0001	0.0003	0	0.0012	0.0021	0	0.0003	0.0014618	226	154602	rs186409908	0.0021	0.0021	0.0022	0.0021	0.0035	0.0021	0.0021	0.0025	0.0025	0.0002	0.0007	7.66e-05	0	0.0006	0.0035	0.0026	0.0022	0.0005	0.0015	0.0015	0.0015	0.0014	0.0027	0.0013	0.0013	0.0024	0.0023	0.0004	0	0.0010	0	0	0.0007	0	0.0027	0	0.0002	0.077	0.34095	T	0.166	0.30828	T	0.993	0.65571	D	0.978	0.74104	D	0.011091	0.29665	N	0.237482	0.843655	0.35107	D	0.345	0.11182	N	0.45	0.56446	T	-1.37	0.33998	N	0.498	0.53093	-0.6173	0.64100	T	0.175	0.51896	T	10	0.019922912	0.00451	T	0.01533	0.35999	T	0.220	0.51569	.	.	0.416454006429	0.41261	0.29348820385581803	0.29261	0.361311190321	0.37790	0.449317216873	0.31850	T	0.007275	0.06695	T	-0.399938	0.02317	T	-0.348415	0.39386	T	0.0436684848776954	0.04360	T	0.843416	0.52040	T	0.10666249	0.25221	0.14032845	0.33453	0.10666249	0.25221	0.14032845	0.33452	-3.97	0.23353	T	.	.	0.267	0.50091	B	.	.	4.372633	0.67337	25.1	0.99703930072356484	0.80867	0.78893	0.38995	D	ALL	0.637653	0.61636	D	0.343626578984955	0.58403	4.012407	0.38840973839583	0.60849	4.277342	0.999999999959789	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.056198	0.00348	3	0.662026	0.63922	0	.	.	5.29	5.29	0.74430	5.063000	0.64162	11.841000	0.97811	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.555000	0.30293	0.0:0.0:1.0:0.0	14.425	0.66777	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004087	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	1114.83	35	chr1	24108029	.	G	C	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.359;DP=255;ExcessHet=0;FS=0.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-1.101;SOR=0.919	GT:AD:DP:GQ:PL	0/1:26,47:73:99:1125,0,541	5	0	1	0
chr1	24364208	24364208	G	A	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_198174:exon16:c.G1718A:p.R573H	Van der Woude syndrome 2, Autosomal dominant	430	1089	3	0	0	3	0.00137552	.	.	.	1873501	GRHL3-related_disorder|not_provided|Van_der_Woude_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.000533226456754	.	0.000399361	0.0009	0	0	0	0.0012	0.0017	0	0.0004	0.000194	30	154602	rs151326764	0.0008	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0001	0.0001	0.0024	0	0.0012	0.0004	0.0009	0.0006	7.789e-05	0.0010	0.0010	0.0008	0.0011	0.0016	0.0008	0.0008	0.0013	0.0013	0.0001	0	0.0001	0.0037	0.0002	0.0015	0	0.0016	0	0	0.149	0.24758	T	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	0	0.06538	N	2.93	0.09822	T	1.27	0.00985	N	0.033	0.00882	-0.9700	0.37200	T	0.011	0.03949	T	7	0.005378872	0.00118	T	5.33E-4	0.00185	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.24853847322689188	0.24767	0.450892133838	0.44853	0.197999298573	0.00401	T	0.137851	0.47102	T	-0.691543	0.00041	T	-0.773394	0.02658	T	0.0142523127382405	0.00282	T	0.439856	0.12136	T	0.01872033	0.00394	0.027419476	0.00894	0.016852664	0.00226	0.026251813	0.00704	-3.227	0.12813	T	0.1589566774786185	0.19296	0.095	0.14706	B	.	.	0.218212	0.06011	2.450	0.72259784511369773	0.09911	0.01173	0.04215	N	AEFGBHCI	0.014219	0.00217	N	-1.35326298828743	0.03091	0.1375438	-1.56374264312022	0.01882	0.08584477	0.999999984014528	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	3.52	-7.03	0.01428	-1.457000	0.02481	-0.172000	0.11217	-0.783000	0.03311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2923:0.2867:0.2078:0.2131	0.207	0.00141	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002545	0.005435	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	946.83	34	chr1	24364208	.	G	A	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.097;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.626;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	5	0	1	0
chr1	25321930	25321930	G	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.G697A:p.A233T,RHD:NM_016124:exon9:c.G1195A:p.A399T	.	567	944	6	5	0	16	0.00840336	.	.	.	2812483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00167194843163	0.0055	0.00139776	0.0042	0.0005	0.0035	0	0	0.0069	0	0.0013	0.0035834	554	154602	rs150059028	0.0056	0.0059	0.0057	0.0054	0.0160	0.0054	0.0054	0.0133	0.0122	0.0009	0.0045	0.0008	0	0.0003	0.0160	0.0068	0.0042	0.0009	0.0042	0.0043	0.0045	0.0040	0.0079	0.0040	0.0038	0.0073	0.0071	0.0007	0.0120	0.0043	0.0010	0	0.0001	0.0363	0.0079	0.0038	0.0011	0.381	0.11156	T	0.606	0.07791	T	0.195	0.29512	B	0.065	0.27321	B	.	.	.	.	1	0.08975	N	1.74	0.45129	L	2.24	0.17923	T	-0.49	0.15578	N	0.137	0.13484	-0.9627	0.38664	T	0.018	0.07565	T	9	0.009203434	0.00208	T	0.001672	0.02753	T	0.012	0.01476	.	.	0.0401082797425	0.02173	.	.	0.13233277982	0.14917	0.298501372337	0.10178	T	0.001847	0.01261	T	-0.682146	0.00047	T	-0.747786	0.03573	T	0.00249023138695016	0.00026	T	0.710029	0.32075	T	0.026662363	0.01752	0.056285452	0.10028	0.024732655	0.01335	0.06271814	0.12315	-4.096	0.25231	T	0.2217239663728352	0.29907	0.083	0.09433	B	.	.	-0.394838	0.02232	0.226	0.55583074485088868	0.05372	0.00769	0.03173	N	AEFGBI	0.062290	0.11963	N	-1.24185593871827	0.04408	0.198871	-1.37664646512064	0.03502	0.1635011	5.54625796185507E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	-2.49	0.06034	-0.634000	0.05575	-0.250000	0.10515	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5587:0.0:0.4413:0.0	6.514	0.21436	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008269	0.000000	0.008671	0.017007	0.000000	0.000000	0.017986	0.000000	0.08333	1517.83	33	chr1	25321930	.	G	A	1517.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.63;MQRankSum=-0.667;QD=14.05;ReadPosRankSum=0.012;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	5	0	1	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.08333	3602.83	33	chr1	25392026	.	C	G	3602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=405;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.083;MQ=59.49;MQRankSum=-3.655;QD=16.53;ReadPosRankSum=0.765;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1316	5	0	1	0
chr1	25885820	25885820	G	T	exonic	STMN1	.	nonsynonymous SNV	STMN1:NM_001145454:exon5:c.C428A:p.A143D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0101917734127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.074	0.42976	T	0.275	0.31898	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.02	0.07299	N	0.277	0.31365	-1.0307	0.20227	T	0.073	0.29675	T	7	0.16695863	0.31163	T	0.010192	0.26434	T	0.074	0.21613	0.608	0.74063	0.286597616719	0.28274	0.3462732675054016	0.34541	1.58467069867	0.88449	0.327375411987	0.14538	T	.	.	.	-0.118576	0.33356	T	-0.408103	0.32444	T	0.135100002669873	0.15845	T	0.378562	0.09103	T	.	.	.	.	.	.	.	.	-5.029	0.37153	T	.	.	0.135	0.29422	B	.	.	0.627109	0.09953	6.712	0.95636782467533232	0.27428	0.14259	0.18308	N	AEFDBHI	0.062718	0.12073	N	-0.617101491055765	0.18429	0.9567989	-0.703513934929979	0.16872	0.8946356	0.999748178981772	0.42466	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.71	2.79	0.31792	1.064000	0.30189	0.773000	0.21413	0.656000	0.54149	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.1215:0.0:0.8785:0.0	7.209	0.25099	696	0.58299	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	436.83	33	chr1	25885820	.	G	T	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=208;ExcessHet=0;FS=1.387;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.629;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	5	0	1	0
chr1	26181925	26181925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon4:c.G461A:p.S154N,CNKSR1:NM_006314:exon4:c.G461A:p.S154N	.	0	1508	14	0	0	14	0.00462046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0096474954443	0.0004	0.00199681	0.0008	0.0009	0.0006	0	0	0.0012	0.0011	0.0004	0.0009314	144	154602	rs145868405	0.0010	0.0010	0.0010	0.0011	0.0082	0.0010	0.0010	0.0063	0.0056	0.0011	0.0011	0.0049	0	1.873e-05	0.0082	0.0010	0.0017	0.0007	0.0009	0.0009	0.0008	0.0010	0.0010	0.0008	0.0007	0.0008	0.0008	0.0005	0	0.0010	0.0046	0	0	0.0102	0.0010	0.0019	0.0010	0.109	0.30515	T	0.035	0.52727	D	0.491	0.36960	P	0.187	0.36167	B	0.020042	0.27124	N	0.422527	1	0.81001	D	1.61	0.41143	L	2.51	0.14284	T	-1.05	0.27463	N	0.264	0.29889	-1.0261	0.21723	T	0.018	0.07470	T	10	0.009554386	0.00215	T	0.009647	0.25222	T	0.064	0.18567	.	.	0.159798565429	0.15598	0.4270266549113444	0.42619	0.390937620753	0.40295	0.304717838764	0.11109	T	0.00692	0.06344	T	-0.652758	0.00070	T	-0.717682	0.04909	T	0.0119952073796429	0.00189	T	0.689231	0.29860	T	0.107102126	0.25325	0.13138534	0.31550	0.107102126	0.25324	0.13138534	0.31549	-5.029	0.40131	T	.	.	0.137	0.32756	B	.;.	.;.	3.433168	0.47720	22.5	0.97751633966628204	0.35745	0.78238	0.38570	D	ALL	0.292160	0.40311	N	-0.0787818306973974	0.38323	2.242856	0.0297114310540479	0.41101	2.463719	0.999998831082744	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.1	3.1	0.34780	1.864000	0.39107	6.329000	0.55457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.5177:0.4823:0.0	12.985	0.57988	413	0.81939	CRIC domain|CRIC domain;CRIC domain|CRIC 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	0.011247	0.010526	0.002717	0.038690	0.050000	0.025862	0.000000	0.007692	0.08333	1044.83	35	chr1	26181925	.	G	A	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.504;DP=285;ExcessHet=0;FS=3.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.301;SOR=1.132	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	775.83	40	chr1	26188770	.	A	G	775.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.747;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.392;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1436	5	0	1	0
chr1	26255641	26255641	A	G	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281517:exon3:c.A526G:p.K176E,CEP85:NM_001319944:exon4:c.A679G:p.K227E,CEP85:NM_022778:exon4:c.A679G:p.K227E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00587897905227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.272	0.22223	T	0.065	0.23521	B	0.031	0.21939	B	0.002628	0.36208	N	0.306226	0.954357	0.26372	N	2.015	0.55033	M	2.78	0.11298	T	-0.06	0.07882	N	0.25	0.28264	-1.0500	0.14397	T	0.021	0.08824	T	10	0.07192758	0.10669	T	0.005879	0.15310	T	0.059	0.16972	0.162	0.06618	0.197625483188	0.19356	0.1476307912949325	0.14685	0.201442843589	0.22544	0.490192234516	0.37464	T	0.008428	0.07741	T	-0.181798	0.23469	T	-0.498917	0.22459	T	0.117949062559046	0.14228	T	0.839616	0.51418	T	0.06747799	0.14615	0.0763468	0.16900	0.06747799	0.14615	0.0763468	0.16900	-2.223	0.04153	T	.	.	0.124	0.27403	B	.;.;.	.;.;.	2.694508	0.35184	19.83	0.99524707052603056	0.69469	0.55968	0.29997	D	AEFBI	0.163073	0.28931	N	-0.335839497962186	0.27796	1.527924	-0.205146815438709	0.31350	1.773415	0.0691361261090217	0.15481	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	4.77	0.60425	1.370000	0.33843	7.934000	0.75174	0.756000	0.94297	0.991000	0.37257	1.000000	0.68203	0.938000	0.47775	0.6298:0.2399:0.0:0.1303	6.751	0.22674	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2722.83	41	chr1	26255641	.	A	G	2722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.944;DP=376;ExcessHet=0;FS=1.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.51;SOR=0.564	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	5	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3931.89	33	chr1	26282323	.	A	*	3931.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.907;DP=117;ExcessHet=0.4139;FS=3.728;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.49;ReadPosRankSum=0.978;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:7,0:17:99:0|1:26282278_C_T:399,420,714:26282278	5	0	1	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2280.3	38	chr1	26282334	.	TGGGGCCG	*	2280.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.032;DP=146;ExcessHet=2.3007;FS=1.693;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=0.352;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	4	0	2	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2236.3	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2236.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=156;ExcessHet=2.3007;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.907;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	4	0	2	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	1	1	4	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2256.72	35	chr1	26282374	.	ACC	*	2256.72	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.115;DP=161;ExcessHet=0.7136;FS=14.85;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=22.57;ReadPosRankSum=0.462;SOR=0.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:7,2:27:99:0|1:26282278_C_T:662,596,882:26282278	3	0	1	2
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	409.4	35	chr1	26282386	.	GCCGGGA	*	409.4	.	AC=4;AF=0.4;AN=10;DP=180;ExcessHet=0.7136;FS=7.449;MLEAC=4;MLEAF=0.4;MQ=60;QD=3.56;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,18:36:99:0|1:26282278_C_T:627,0,691:26282278	1	0	4	1
chr1	26344655	26344655	G	A	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.C2003T:p.P668L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169200627	1.735e-05	1.984e-05	8.564e-06	2.638e-05	0.0004	1.174e-05	9.87e-06	6.165e-05	3.629e-05	0	0	0	0	0	0.0004	9.273e-06	6.912e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.141	0.33442	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.088163584	0.15155	T	.	.	.	.	.	.	.	0.642454921559	0.63950	0.08909451675140305	0.08842	.	.	0.233006820083	0.02198	T	.	.	.	-0.227997	0.16913	T	-0.565278	0.15884	T	.	.	.	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.16973	B	.;.;.	.;.;.	0.474435	0.08439	5.197	0.57098761017264343	0.05695	0.02631	0.07223	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.321509830730173	0.19389	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0844594	0.19282	4.26	1.23	0.20358	0.064000	0.14310	0.755000	0.21268	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.026000	0.12556	0.3979:0.0:0.6021:0.0	6.923	0.23577	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1852.83	139	chr1	26344655	.	G	A	1852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=781;ExcessHet=0;FS=2.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-2.44;SOR=0.598	GT:AD:DP:GQ:PL	0/0:143,0:143:99:0,120,1800	5	0	1	0
chr1	26900006	26900006	G	A	exonic	GPATCH3	.	nonsynonymous SNV	GPATCH3:NM_022078:exon1:c.C437T:p.P146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00424407027977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.876e-06	4.638e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.231	0.25061	T	0.704	0.41950	P	0.119	0.32162	B	0.000002	0.62929	D	0.061993	0.999969	0.52935	D	2.64	0.77224	M	1.58	0.29085	T	-1.12	0.28906	N	0.442	0.48042	-1.0893	0.05650	T	0.059	0.24649	T	10	0.2441675	0.41643	T	0.004244	0.10247	T	0.057	0.16321	0.42	0.46200	0.232513804876	0.22884	0.5408618954457344	0.54011	0.39640834386	0.40755	0.508153021336	0.39964	T	0.057406	0.30556	T	-0.0607628	0.42788	T	-0.325058	0.42016	T	0.964439928531647	0.66957	D	0.841716	0.51747	T	0.14273794	0.32836	0.24852431	0.50405	0.14273794	0.32835	0.24852431	0.50404	-2.082	0.03507	T	.	.	0.248	0.48303	B	.	.	3.861536	0.56000	23.7	0.99522568932322042	0.69346	0.79631	0.39497	D	AEFDGBCIJ	0.219080	0.34401	N	0.210465220729326	0.51706	3.349753	0.294346509029024	0.55207	3.684112	0.999999998848412	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.23	5.23	0.72570	3.791000	0.55173	11.595000	0.93433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.186:0.814:0.0	12.144	0.53318	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1819.83	34	chr1	26900006	.	G	A	1819.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.483;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.749;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1400	5	0	1	0
chr1	26941557	26941557	G	A	exonic	NUDC	.	nonsynonymous SNV	NUDC:NM_006600:exon3:c.G260A:p.R87Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0834775923441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757488340	9.596e-06	9.577e-06	1.227e-05	6.891e-06	4.528e-05	5.57e-06	4.36e-06	7.51e-06	2.81e-06	2.988e-05	4.528e-05	0	0	0	0	6.301e-06	6.643e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.079	0.35349	T	0.049	0.50514	D	0.65	0.40644	P	0.097	0.30390	B	0.000080	0.52346	D	0.167825	0.999914	0.51042	D	2.42	0.70002	M	-1.62	0.82347	D	-1.18	0.36385	N	0.588	0.60833	0.188	0.85702	D	0.662	0.88261	D	10	0.39850998	0.55400	T	0.083478	0.74124	D	0.379	0.69696	0.26	0.20315	0.692095630652	0.68945	0.3074319133202617	0.30656	0.366967266	0.38266	0.517530202866	0.41278	T	0.028174	0.27821	T	0.00292747	0.52059	T	-0.0544993	0.66714	D	0.477122485637665	0.31792	T	0.918408	0.70674	D	0.09304545	0.21845	0.112403184	0.27122	0.09304545	0.21844	0.112403184	0.27121	-3.301	0.13750	T	.	.	0.134	0.29116	B	.;.;.	.;.;.	3.919599	0.57214	23.8	0.99919106117806922	0.98654	0.99734	0.99061	D	AEFDGBI	0.896985	0.83867	D	0.504203789233768	0.67337	5.068311	0.522030374946808	0.69474	5.36568	0.999999763599671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.626000	0.97807	3.995000	0.41022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.389000	0.26536	0.0:0.0:1.0:0.0	17.626	0.87995	584	0.69381	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1738.06	34	chr1	26941557	.	G	A	1738.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.82;DP=275;ExcessHet=0.4139;FS=1.398;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.38;SOR=0.882	GT:AD:DP:GQ:PL	0/1:26,30:56:99:877,0,533	4	0	2	0
chr1	27006665	27006665	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G557A:p.R186H	.	431	1087	4	0	0	4	0.00183655	.	.	.	3609709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0205164282446	0.0002	.	0.0001	9.651e-05	0	0	0	4.5e-05	0.0011	0.0006	9.7e-05	15	154602	rs370934035	5.541e-05	5.541e-05	1.77e-05	9.351e-05	0.0007	4.543e-05	4.155e-05	0.0006	0.0005	0	2.236e-05	0	0	0	0	1.079e-05	8.279e-05	0.0007	7.223e-05	7.218e-05	5.14e-05	9.398e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	9.622e-05	0	0	0	0	0	0	4.41e-05	0	0.0008	0.023	0.48186	D	0.01	0.65728	D	0.5	0.37145	P	0.243	0.38752	B	0.000000	0.84330	D	0.046976	1	0.81001	D	.	.	.	1.71	0.26737	T	-4.39	0.77225	D	0.411	0.45142	-0.8603	0.51241	T	0.124	0.42778	T	10	0.24005786	0.41158	T	0.020516	0.43131	T	0.275	0.59130	.	.	0.451977122513	0.44822	0.588520856768765	0.58782	0.502531134374	0.48607	0.712020337582	0.68886	T	0.203686	0.56223	T	-0.166016	0.25841	T	-0.100402	0.63367	T	0.376024186611176	0.28029	T	0.925407	0.72589	D	0.38560495	0.59718	0.22331661	0.47205	0.38560495	0.59719	0.22331661	0.47204	-9.652	0.71802	D	.	.	0.119	0.24294	B	.	.	3.714730	0.53052	23.3	0.9991473218884972	0.98309	0.65785	0.32854	D	AEFDBCI	0.768070	0.70374	D	0.415362534341255	0.62266	4.439734	0.457967794702563	0.65231	4.797623	0.999999999999999	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.749866	0.98131	0	0.567892	0.33627	0	.	.	5.2	5.2	0.71720	4.165000	0.57984	3.372000	0.37939	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.911	0.92459	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2583.83	220	chr1	27006665	.	C	T	2583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=412;ExcessHet=0;FS=5.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.381;SOR=0.42	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr1	27353338	27353338	C	A	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon14:c.C1399A:p.R467S,SYTL1:NM_032872:exon14:c.C1363A:p.R455S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0616146518011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.61437	D	0.011	0.64786	D	0.962	0.55554	D	0.838	0.60045	P	0.000549	0.43413	D	0.229825	1	0.08975	N	1.54	0.38927	L	-0.3	0.67874	T	-2.68	0.57435	D	0.476	0.51137	-0.5046	0.68483	T	0.395	0.74786	T	10	0.51183057	0.62141	D	0.061615	0.68388	D	0.339	0.66106	0.743	0.87486	0.799954522492	0.79808	0.48356460087286873	0.48276	0.771912176241	0.64812	0.332013636827	0.15238	T	0.102134	0.78252	T	-0.0455682	0.45119	T	-0.303232	0.44383	T	0.922957837581635	0.58335	D	0.883212	0.60517	D	0.589481	0.72122	0.48686913	0.70303	0.589481	0.72123	0.48686913	0.70303	-9.228	0.69153	D	.	.	0.333	0.55410	B	.;.;.;.	.;.;.;.	3.263907	0.44646	22.0	0.99580440808703685	0.72980	0.12931	0.17565	N	AEFBHCI	0.142751	0.26527	N	-0.0333126744284914	0.40352	2.394803	-0.112081892758462	0.34903	2.012968	0.997454351822435	0.35635	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.57	3.64	0.40864	0.157000	0.16219	2.076000	0.30469	0.599000	0.40250	0.001000	0.13787	0.948000	0.28948	0.960000	0.51673	0.4382:0.5618:0.0:0.0	13.421	0.60445	568	0.70638	C2 domain|C2 domain|C2 domain;.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1120.83	90	chr1	27353338	.	C	A	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.18;DP=340;ExcessHet=0;FS=5.104;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.184;SOR=1.201	GT:AD:DP:GQ:PL	0/1:57,41:98:99:1131,0,1393	5	0	1	0
chr1	27370634	27370634	T	C	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon6:c.A587G:p.Y196C,FCN3:NM_003665:exon7:c.A620G:p.Y207C	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1015715	Immunodeficiency_due_to_ficolin3_deficiency|not_provided	MONDO:MONDO:0013467,MedGen:C3151226,OMIM:613860,Orphanet:331190|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.548	0.0204591217595	.	.	4.944e-05	0	0	0	0	7.496e-05	0	6.058e-05	5.17e-05	8	154602	rs781053078	7.524e-05	7.524e-05	7.895e-05	7.15e-05	0.0035	6.382e-05	5.938e-05	0.0023	0.0019	5.974e-05	2.236e-05	0	0	0	0.0035	7.104e-05	0.0001	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.825288	0.06908	N	1.111850	0.999999	0.08975	N	4.705	0.99486	H	-2.11	0.86216	D	-8.7	0.97637	D	0.598	0.61680	-0.2308	0.76866	T	0.806	0.93436	D	10	0.9660878	0.96095	D	0.020459	0.43059	T	0.548	0.81252	0.882	0.96934	0.927474996152	0.92673	0.8041784513441672	0.80371	0.627397697224	0.56835	0.330797612667	0.15054	T	0.371492	0.73585	T	0.257856	0.79330	D	0.324298	0.89271	D	0.56227373531794	0.34941	D	0.882812	0.60417	D	0.931944	0.94431	0.80255514	0.88430	0.931944	0.94432	0.80255514	0.88431	-9.487	0.70778	D	.	.	0.778	0.77664	P	.;.	.;.	3.268455	0.44732	22.0	0.9887144457337067	0.47649	0.23413	0.22068	N	AEFBI	0.299637	0.40863	N	0.156861162329416	0.49137	3.117521	-0.087430489363039	0.35909	2.08315	0.999847396739546	0.43971	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.32	1.94	0.25058	0.722000	0.25595	-0.274000	0.10324	0.665000	0.62972	0.011000	0.18532	0.002000	0.18203	0.645000	0.32557	0.0:0.1015:0.1826:0.7159	5.158	0.14374	607	0.67291	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	0.004028	0.000000	0.000000	0.017544	0.050000	0.000000	0.003049	0.000000	0.1667	2757.06	34	chr1	27370634	.	T	C	2757.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.88;DP=346;ExcessHet=0.4139;FS=0.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=2.44;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1145,0,1369	4	0	2	0
chr1	27412656	27412656	G	A	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_001201404:exon7:c.C740T:p.P247L,WASF2:NM_006990:exon7:c.C740T:p.P247L	.	426	1082	13	1	0	15	0.00688389	.	.	.	732366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00477985411267	0.0018	0.000798722	0.0024	0.0002	0.0004	0	0.0002	0.0031	0.0066	0.0042	0.0021216	328	154602	rs149705388	0.0014	0.0014	0.0013	0.0015	0.0055	0.0013	0.0013	0.0040	0.0035	0.0001	0.0003	0.0055	2.519e-05	0.0006	0.0055	0.0013	0.0018	0.0033	0.0011	0.0011	0.0011	0.0010	0.0033	0.0009	0.0009	0.0021	0.0017	0.0002	0	0.0004	0.0078	0	0.0008	0.0068	0.0014	0.0009	0.0033	0.204	0.20078	T	0.111	0.41742	T	0.006	0.13644	B	0.002	0.06944	B	0.051012	0.23020	N	0.495011	0.999941	0.58761	D	1.14	0.29013	L	.	.	.	-2.94	0.61435	D	0.351	0.39659	-1.0010	0.29631	T	0.107	0.39051	T	10	0.0081346035	0.00185	T	0.00478	0.11941	T	0.046	0.12618	.	.	0.0675242888579	0.06100	0.79114945530188	0.79066	.	.	0.474490821362	0.35298	T	0.398265	0.75641	T	-0.429642	0.01490	T	-0.391084	0.34425	T	0.0168502223364049	0.00438	T	0.847115	0.57909	T	0.03825706	0.05063	0.06537467	0.13239	0.03825706	0.05063	0.06537467	0.13239	-6.18	0.47761	T	.	.	0.061	0.02488	B	.;.	.;.	3.975189	0.58395	24.0	0.97364026160656747	0.33588	0.74514	0.36453	D	AEFBI	0.202812	0.32938	N	-0.171247790523299	0.34335	1.958566	-0.0407529198331377	0.37894	2.224925	0.997095575458704	0.35269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	3.49	0.39065	2.774000	0.47379	7.527000	0.59855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2254:0.0:0.7746:0.0	9.335	0.37207	541	0.72942	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	688.83	33	chr1	27412656	.	G	A	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=231;ExcessHet=0;FS=3.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-2.196;SOR=1.066	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1253	5	0	1	0
chr1	27955748	27955748	G	A	exonic	SMPDL3B	.	nonsynonymous SNV	SMPDL3B:NM_001009568:exon6:c.G755A:p.R252Q,SMPDL3B:NM_001304579:exon6:c.G137A:p.R46Q,SMPDL3B:NM_014474:exon6:c.G755A:p.R252Q	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0557122219142	0.0012	0.00179712	0.0024	9.614e-05	0	0.0003	0.0029	0.0024	0.0044	0.0067	0.0021798	337	154602	rs144208397	0.0019	0.0019	0.0017	0.0021	0.0064	0.0018	0.0018	0.0059	0.0057	0.0002	0.0001	0.0126	2.519e-05	0.0036	0.0033	0.0014	0.0020	0.0064	0.0015	0.0015	0.0013	0.0018	0.0064	0.0014	0.0013	0.0047	0.0040	0.0002	0	0.0002	0.0132	0.0008	0.0039	0	0.0014	0.0019	0.0064	0.032	0.44694	D	0.158	0.31629	T	1.0	0.90584	D	0.99	0.78936	D	0.000014	0.62929	D	0.106889	0.720989	0.33617	D	2.605	0.76211	M	-2.42	0.88611	D	-3.0	0.62343	D	0.233	0.31253	0.669	0.92788	D	0.794	0.93004	D	10	0.008205473	0.00186	T	0.055712	0.66336	D	0.426	0.73372	.	.	0.977243864315	0.97699	0.7132078790257588	0.71263	0.336874840187	0.35684	0.217526227236	0.01172	T	0.359239	0.72567	T	-0.309199	0.07818	T	-0.213891	0.53323	T	0.0824133426847049	0.10294	T	0.772623	0.40374	T	0.19201049	0.40852	0.16235138	0.37716	0.19201049	0.40852	0.16235138	0.37715	-6.834	0.53639	T	.	.	0.127	0.26917	B	.;.;.	.;.;.	3.086337	0.41541	21.4	0.99600632141617196	0.74160	0.90098	0.51013	D	AEFDBI	0.457220	0.50875	N	-0.149063258425961	0.35274	2.024037	-0.240162934899754	0.30111	1.692654	0.982420893175803	0.30397	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.34	3.45	0.38602	4.313000	0.58952	5.092000	0.47362	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1337:0.0:0.8663:0.0	14.689	0.68681	504	0.75712	Calcineurin-like phosphoesterase domain, ApaH type;.;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1368.83	33	chr1	27955748	.	G	A	1368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.754;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1372	5	0	1	0
chr1	29058814	29058814	C	T	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001166005:exon14:c.C1906T:p.L636F,EPB41:NM_001376013:exon14:c.C1906T:p.L636F,EPB41:NM_001376016:exon14:c.C1906T:p.L636F,EPB41:NM_001376017:exon14:c.C1906T:p.L636F,EPB41:NM_001376018:exon14:c.C1903T:p.L635F,EPB41:NM_001376019:exon14:c.C1906T:p.L636F,EPB41:NM_001376020:exon14:c.C1903T:p.L635F,EPB41:NM_001376022:exon14:c.C1279T:p.L427F,EPB41:NM_001376023:exon14:c.C1279T:p.L427F,EPB41:NM_001376024:exon14:c.C1279T:p.L427F,EPB41:NM_001376025:exon14:c.C1279T:p.L427F	Elliptocytosis-1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.02790518135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379629204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.29959	T	0.269	0.22426	T	0.234	0.30717	B	0.195	0.36592	B	0.697274	0.10124	N	0.823125	1	0.81001	D	0	0.06538	N	-1.83	0.84122	D	-0.93	0.24898	N	0.246	0.27792	-0.8062	0.54778	T	0.365	0.72590	T	10	0.10629678	0.19691	T	0.027905	0.50660	D	0.218	0.51265	0.188	0.09776	0.844669823518	0.84318	0.046231428348495196	0.04567	0.301784743686	0.32512	0.375472396612	0.21614	T	0.232853	0.59952	T	-0.0776721	0.40093	T	-0.349347	0.39280	T	0.345080107450485	0.26825	T	0.69663	0.30630	T	0.08674691	0.20173	0.09325523	0.22016	0.08674691	0.20173	0.09325523	0.22015	-5.377	0.40697	T	.	.	0.080	0.31583	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.770451	0.36367	20.2	0.9882487238879879	0.46852	0.96874	0.71409	D	AEFBI	0.365150	0.45343	N	-0.548708943881162	0.20524	1.08258	-0.375939668010419	0.25717	1.415942	0.00813746816750626	0.11617	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	2.26	0.27418	3.142000	0.50296	1.015000	0.23361	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6028:0.3972:0.0	15.412	0.74656	444	0.79803	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	435.83	35	chr1	29058814	.	C	T	435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=206;ExcessHet=0;FS=4.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.498;SOR=1.254	GT:AD:DP:GQ:PL	0/1:25,19:44:99:446,0,636	5	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.08333	601.83	36	chr1	29275715	.	G	T	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.532;DP=237;ExcessHet=0;FS=1.139;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-2.191;SOR=0.456	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	5	0	1	0
chr1	30739047	30739047	G	A	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon5:c.C403T:p.P135S	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0068	0.00379393	0.0123	0.0018	0.0084	0	0.0716	0.0162	0.0242	0.0009	0.0067852	1049	154602	rs34101571	0.0092	0.0092	0.0093	0.0090	0.0093	0.0090	0.0090	0.0092	0.0091	0.0015	0.0057	0.0133	0	0.0325	0.0089	0.0093	0.0085	0.0012	0.0081	0.0081	0.0071	0.0093	0.0087	0.0078	0.0076	0.0082	0.0079	0.0019	0	0.0069	0.0121	0	0.0360	0.0306	0.0087	0.0085	0.0014	0.182	0.21801	T	0.231	0.25061	T	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.071834	0.912274	0.36443	D	2.82	0.82106	M	-0.04	0.63240	T	-3.14	0.64019	D	0.442	0.48042	-0.2830	0.75458	T	0.253	0.62281	T	10	0.0086191	0.00195	T	.	.	.	0.508	0.78848	.	.	0.713346928536	0.71084	0.7722297890996368	0.77172	0.451262029509	0.44877	0.497715383768	0.38509	T	0.376112	0.73957	T	-0.131729	0.31217	T	0.0459654	0.73317	D	0.0293732744053332	0.01894	T	0.752425	0.37456	T	0.15051475	0.34262	0.17167628	0.39367	0.15051475	0.34261	0.17167628	0.39366	-2.585	0.06390	T	.	.	0.200	0.42404	B	.	.	3.249846	0.44396	21.9	0.99629821214065184	0.75959	0.79126	0.39151	D	AEFGBHCI	0.502431	0.53485	D	0.297796703602127	0.56036	3.767906	0.219991395826243	0.50956	3.282586	0.999999987528689	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.73	4.81	0.61401	4.314000	0.58957	6.720000	0.56427	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.1653:0.8347:0.0	12.726	0.56545	958	0.09170	.	.	.	.	.	rs34101571	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.009537	0.000000	0.050000	0.017241	0.009202	0.011364	0.08333	405.83	34	chr1	30739047	.	G	A	405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=207;ExcessHet=0;FS=19.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.195;SOR=3.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	5	0	1	0
chr1	30876701	30876701	T	C	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon3:c.A721G:p.T241A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0099508389969	7.7e-05	0.000199681	3.674e-05	0	0	0	0	6.478e-05	0	0	3.23e-05	5	154602	rs369847197	8.49e-05	8.551e-05	7.954e-05	9.033e-05	0.0001	7.268e-05	6.811e-05	9.527e-05	8.928e-05	0	0	0	0	0	0	0.0001	0	0	3.284e-05	3.281e-05	5.142e-05	1.343e-05	6.538e-05	1.26e-05	7.98e-06	1.973e-05	1.125e-05	0	0	6.538e-05	0	0	0	0	5.882e-05	0	0	0.01	0.56456	D	0.29	0.23433	T	0.015	0.19556	B	0.021	0.21741	B	0.003152	0.35359	N	0.196714	0.997915	0.44315	D	1.1	0.28011	L	1.79	0.25509	T	-1.57	0.37955	N	0.199	0.35408	-1.0777	0.07801	T	0.038	0.16462	T	10	0.06300941	0.08144	T	0.009951	0.25901	T	0.062	0.17934	.	.	0.082315109003	0.07666	0.5676529610078943	0.56693	0.0661567587918	0.07378	0.686908781528	0.65261	T	0.453876	0.79365	T	-0.322372	0.06705	T	-0.506533	0.21672	T	0.0667408080686408	0.08186	T	0.70293	0.31283	T	0.07239603	0.16100	0.084390126	0.19409	0.07239603	0.16100	0.084390126	0.19409	-4.753	0.34039	T	.	.	0.122	0.25462	B	.;.	.;.	3.707557	0.52916	23.3	0.95933976373763141	0.28222	0.98362	0.82008	D	AEFBI	0.653214	0.62633	D	-0.384331294297786	0.26026	1.417342	-0.248913441535965	0.29808	1.673119	0.984762775909498	0.30771	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.99	3.86	0.43689	2.995000	0.49129	4.993000	0.46541	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.646000	0.32584	0.0:0.0888:0.0:0.9112	8.538	0.32536	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	256.83	36	chr1	30876701	.	T	C	256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.079;DP=196;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.13;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1047	5	0	1	0
chr1	31373007	31373007	T	C	exonic	FABP3	.	nonsynonymous SNV	FABP3:NM_001320996:exon1:c.A8G:p.D3G,FABP3:NM_004102:exon1:c.A8G:p.D3G	.	.	.	.	.	.	.	.	.	.	.	732388	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.0184774666606	.	0.00159744	0.0005	0	0	0.0074	0	1.507e-05	0	0	0.0004981	77	154602	rs17848124	0.0002	0.0002	0.0003	0.0002	0.0084	0.0002	0.0002	0.0077	0.0074	0	0	0	0.0084	0	0	8.993e-07	0.0003	6.956e-05	0.0004	0.0004	0.0003	0.0005	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	6.533e-05	0	0.0110	0	0	0	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.346	0.33564	B	0.533	0.48638	P	0.001460	0.38980	N	0.278618	0.999965	0.52935	D	2.92	0.84325	M	0.93	0.44065	T	-4.55	0.78553	D	0.395	0.43610	-0.8778	0.49935	T	0.120	0.41907	T	10	0.008144945	0.00185	T	0.018477	0.40558	T	0.093	0.26882	.	.	0.531245695338	0.52774	0.5708190595413535	0.57009	0.171403570723	0.19308	0.445878207684	0.31381	T	0.47397	0.80561	T	-0.424061	0.01612	T	-0.370234	0.36861	T	0.220492344113128	0.21489	T	0.828317	0.49240	T	0.73878044	0.80222	0.61218506	0.77436	0.73878044	0.80224	0.61218506	0.77437	-9.685	0.72005	D	.	.	0.220	0.45714	B	.;.	.;.	4.578268	0.72295	25.8	0.99534775742638537	0.70087	0.74390	0.36391	D	ALL	0.871357	0.79271	D	0.177038441262608	0.50096	3.20313	0.215616426648581	0.50713	3.26054	0.999999984707595	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	4.71	3.54	0.39650	4.204000	0.58258	6.127000	0.53864	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1722:0.8278	9.872	0.40351	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1154.83	80	chr1	31373007	.	T	C	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=251;ExcessHet=0;FS=3.191;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.043;SOR=1.157	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	5	0	1	0
chr1	32205706	32205706	A	G	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon1:c.A25G:p.K9E,IQCC:NM_018134:exon1:c.A25G:p.K9E	.	409	1112	1	0	0	1	0.000449438	.	.	.	3274858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0079180477824	.	0.000199681	0.0001	0	0	0.0011	0	1.868e-05	0.0016	0.0001	8.41e-05	13	154602	rs200205658	5.421e-05	5.472e-05	4.64e-05	6.211e-05	0.0005	4.424e-05	4.095e-05	0.0003	0.0003	0	0	0	0.0005	0	0.0002	2.973e-05	3.325e-05	0.0003	7.227e-05	7.219e-05	6.429e-05	8.061e-05	0.0019	3.971e-05	3.127e-05	0.0011	0.0008	0	0	0	0	0.0019	0	0	0	0	0.0002	0.019	0.91255	D	0.118	0.36233	T	0.006	0.13644	B	0.025	0.20508	B	0.353526	0.13779	N	0.690747	1	0.08975	N	1.1	0.28011	L	2.87	0.26152	T	-1.78	0.42001	N	0.244	0.27554	-1.0234	0.22606	T	0.051	0.21533	T	10	0.012607127	0.00270	T	0.007918	0.21007	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.14198885355945298	0.14121	0.264670799846	0.29017	0.483884215355	0.36591	T	0.015079	0.12720	T	-0.396154	0.02453	T	-0.428554	0.30099	T	0.175106486558776	0.18920	T	0.452755	0.12846	T	0.17695288	0.38635	0.20427741	0.44543	0.17695288	0.38635	0.20427741	0.44542	-10.984	0.79571	D	.	.	0.272	0.50572	B	.;.	.;.	2.867346	0.37901	20.6	0.81635285097873656	0.13783	0.01176	0.04222	N	ALL	0.061205	0.11685	N	-0.834056113931883	0.12446	0.6067028	-0.890939386252091	0.12307	0.6323612	0.999999999999923	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.1	1.71	0.23429	1.856000	0.39028	4.083000	0.41752	0.686000	0.82685	0.313000	0.25441	0.086000	0.22461	0.069000	0.16583	0.6963:0.0:0.3037:0.0	6.309	0.20360	440	0.80101	IQ motif, EF-hand binding site;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1465.83	89	chr1	32205706	.	A	G	1465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.68;DP=286;ExcessHet=0;FS=4.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-0.489;SOR=1.265	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr1	32470994	32470994	A	G	exonic	ZBTB8B	.	nonsynonymous SNV	ZBTB8B:NM_001145720:exon2:c.A370G:p.I124V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00134643491295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.286e-06	4.104e-06	2.819e-06	5.793e-06	0.0004	1.54e-06	1.01e-06	6.159e-05	2.546e-05	0	0	0	0	0	0.0004	9.267e-07	1.72e-05	2.524e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.058	0.46182	T	0.994	0.66517	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999632	0.47961	D	1.445	0.36358	L	.	.	.	.	.	.	0.271	0.30687	-1.1097	0.03096	T	0.063	0.26172	T	10	0.29566574	0.47134	T	0.001346	0.01910	T	.	.	0.337	0.32654	0.0846915920261	0.08053	0.40783824697154986	0.40699	0.0989216507095	0.11174	0.8647762537	0.91814	D	0.064272	0.32390	T	0.0124478	0.53358	T	-0.219896	0.52747	T	0.932237207889557	0.59814	D	0.873013	0.58094	D	0.15337496	0.34770	0.14278111	0.33955	0.15337496	0.34769	0.14278111	0.33954	-9.464	0.70635	D	.	.	0.496	0.64421	A	.	.	3.669002	0.52162	23.2	0.99851908097937025	0.93102	0.93968	0.59717	D	AEFDBCI	0.748197	0.69002	D	0.4960875757821	0.66861	5.005253	0.518596173012303	0.69241	5.332589	0.999853959832266	0.44174	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.22	5.22	0.72285	6.215000	0.72150	11.267000	0.91274	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	1.0:0.0:0.0:0.0	14.990	0.71040	270	0.89404	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1133.83	36	chr1	32470994	.	A	G	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.765;DP=277;ExcessHet=0;FS=5.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.65;SOR=0.314	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	5	0	1	0
chr1	32771251	32771251	C	G	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.C1895G:p.A632G,KIAA1522:NM_001369553:exon6:c.C1928G:p.A643G,KIAA1522:NM_020888:exon6:c.C2072G:p.A691G	.	408	1042	70	2	0	74	0.034291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0069	0.00379393	0.0082	0.0022	0.0043	0.0001	0.0015	0.0103	0.0124	0.0125	0.0078783	1218	154602	rs115626337	0.0097	0.0097	0.0096	0.0099	0.0469	0.0096	0.0095	0.0423	0.0405	0.0026	0.0044	0.0243	7.561e-05	0.0014	0.0469	0.0100	0.0113	0.0130	0.0067	0.0068	0.0067	0.0068	0.0105	0.0064	0.0063	0.0099	0.0096	0.0020	0	0.0039	0.0199	0	0.0023	0.0374	0.0105	0.0076	0.0100	0.034	0.44029	D	0.54	0.09760	T	0.218	0.30213	B	0.075	0.28327	B	0.210624	0.16374	N	0.449731	0.999394	0.46900	D	1.59	0.40313	L	2.66	0.12575	T	0.04	0.09796	N	0.212	0.23632	-1.0223	0.22965	T	0.019	0.07986	T	10	0.0028108358	0.00044	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	0.2235688335380214	0.22271	0.118390049219	0.13333	0.390469789505	0.23736	T	0.002647	0.02035	T	-0.574737	0.00207	T	-0.587315	0.13899	T	0.012088385384825	0.00192	T	0.781022	0.41604	T	0.07077329	0.15617	0.07130961	0.15254	0.07077329	0.15617	0.07130961	0.15254	-4.781	0.34369	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.643608	0.20977	14.99	0.89004375021630677	0.18432	0.23939	0.22236	N	AEFDBCI	0.146826	0.27037	N	-0.677451775913046	0.16665	0.8510871	-0.712694711770594	0.16646	0.8815072	0.999999555097307	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.77	3.77	0.42499	3.239000	0.51058	1.282000	0.25358	0.599000	0.40250	0.281000	0.25150	0.025000	0.21018	0.013000	0.09966	0.2212:0.7788:0.0:0.0	8.999	0.35233	308	0.87611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041289	0.010101	0.044837	0.073099	0.000000	0.068966	0.018293	0.026515	0.08333	901.83	95	chr1	32771251	.	C	G	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.92;DP=281;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.62;SOR=0.794	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1490	5	0	1	0
chr1	33367331	33367331	G	A	exonic	PHC2	.	nonsynonymous SNV	PHC2:NM_001330488:exon6:c.C674T:p.P225L,PHC2:NM_001385122:exon6:c.C674T:p.P225L,PHC2:NM_001385109:exon7:c.C761T:p.P254L,PHC2:NM_001385112:exon7:c.C827T:p.P276L,PHC2:NM_001385120:exon7:c.C761T:p.P254L,PHC2:NM_001385121:exon7:c.C755T:p.P252L,PHC2:NM_198040:exon7:c.C761T:p.P254L,PHC2:NM_001385119:exon8:c.C761T:p.P254L	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0140252132577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.049	0.48336	D	0.191	0.29411	B	0.09	0.29851	B	0.000002	0.62929	D	0.063725	0.999911	0.81001	D	1.895	0.50365	L	1.9	0.34841	T	-2.49	0.56144	N	0.315	0.47208	-1.1003	0.04055	T	0.074	0.29897	T	10	0.19896185	0.35887	T	0.014025	0.33868	T	0.080	0.23350	0.126	0.03173	0.464612977235	0.46086	0.40687863997704315	0.40603	0.878040699643	0.69652	0.488299131393	0.37203	T	0.097685	0.72258	T	-0.148929	0.28479	T	-0.451703	0.27508	T	0.957750141620636	0.65089	D	0.79772	0.47570	T	0.20940843	0.43206	0.24742754	0.50273	0.20940843	0.43206	0.24742754	0.50272	-6.466	0.50023	T	.	.	0.171	0.37558	B	.;.	.;.	3.604223	0.50925	23.0	0.99739971239721292	0.83409	0.82632	0.41833	D	AEFGBCI	0.391869	0.47014	N	-0.0744462337446386	0.38517	2.257045	0.0927879172625022	0.44184	2.705196	0.999999025539405	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	5.74	4.79	0.60909	3.292000	0.51478	8.589000	0.77679	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.419000	0.27206	0.0:0.0:0.8318:0.1682	12.257	0.53945	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	401.83	38	chr1	33367331	.	G	A	401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.76;SOR=0.877	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1253	5	0	1	0
chr1	33493612	33493612	A	G	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377378:exon5:c.A1708G:p.M570V,ZSCAN20:NM_001377379:exon6:c.A916G:p.M306V,ZSCAN20:NM_001377376:exon7:c.A1870G:p.M624V,ZSCAN20:NM_001377377:exon7:c.A1867G:p.M623V,ZSCAN20:NM_145238:exon7:c.A1870G:p.M624V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00370673709938	.	0.000599042	0.0004	0.0001	0	0.0055	0	1.577e-05	0	9.439e-05	0.0003363	52	154602	rs187017447	0.0001	0.0001	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0	2.462e-05	0	0.0048	0	0.0002	1.011e-05	5.133e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0058	0.0001	0.0001	0.0042	0.0036	0	0	0	0	0.0058	0	0	1.47e-05	0	0	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.681464	0.06094	N	1.182760	1	0.08975	N	0.895	0.22405	L	3.41	0.05574	T	.	.	.	0.149	0.15187	-1.0098	0.26981	T	0.029	0.12322	T	9	0.0073409677	0.00167	T	0.003707	0.08589	T	0.043	0.11576	.	.	0.184867976434	0.18130	0.3441181281539628	0.34325	0.211509764548	0.23653	0.223565071821	0.01525	T	0.011109	0.09952	T	-0.686812	0.00044	T	-0.757553	0.03201	T	0.00687624322253959	0.00078	T	0.654634	0.26482	T	0.06609247	0.14189	0.059430644	0.11153	0.06609247	0.14189	0.059430644	0.11153	-2.403	0.05151	T	.	.	0.078	0.06942	B	.	.	0.786851	0.11572	8.164	0.26445235583182997	0.01267	0.18362	0.20229	N	AEFDBI	0.044691	0.07222	N	-1.0086050475514	0.08424	0.3949537	-0.96940811456387	0.10476	0.5278841	0.00362449457990378	0.10207	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	4.08	1.72	0.23498	2.222000	0.42568	0.599000	0.19904	0.756000	0.94297	0.701000	0.28635	0.000000	0.08366	0.312000	0.24784	0.6558:0.2247:0.1195:0.0	3.730	0.08016	398	0.82839	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	457.83	36	chr1	33493612	.	A	G	457.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.506;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.515;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1200	5	0	1	0
chr1	35114576	35114576	A	G	exonic	ZMYM1	.	nonsynonymous SNV	ZMYM1:NM_001319955:exon9:c.A2521G:p.T841A,ZMYM1:NM_001289089:exon10:c.A2689G:p.T897A,ZMYM1:NM_024772:exon10:c.A2746G:p.T916A,ZMYM1:NM_001289088:exon11:c.A2746G:p.T916A,ZMYM1:NM_001289090:exon11:c.A2746G:p.T916A,ZMYM1:NM_001289091:exon11:c.A1666G:p.T556A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00778422694697	.	.	3.698e-05	0	0	0	0	0	0.0012	0.0002	2.59e-05	4	154602	rs756797801	1.166e-05	1.163e-05	4.092e-06	1.931e-05	0.0002	7.1e-06	5.81e-06	0.0001	9.532e-05	0	0	0	0	0	0	9.003e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.762747	0.09610	N	0.872462	0.999958	0.19072	N	-1.1	0.00987	N	1.94	0.22678	T	1.11	0.01213	N	0.062	0.04072	-0.9356	0.43303	T	0.012	0.04605	T	9	0.02047667	0.00472	T	0.007784	0.20642	T	0.025	0.05312	0.405	0.43738	0.0482279557977	0.04254	0.06221579855488417	0.06161	0.154411478399	0.17441	0.336470484734	0.15909	T	0.001198	0.00692	T	-0.50708	0.00521	T	-0.686726	0.06581	T	0.0179252399286084	0.00518	T	0.40156	0.10241	T	0.030173697	0.02636	0.02942222	0.01278	0.030173697	0.02636	0.02942222	0.01278	-2.501	0.05788	T	.	.	0.052	0.00211	B	.;.;.;.	.;.;.;.	-0.007046	0.04236	1.042	0.14379426315034066	0.00315	0.03081	0.07998	N	AEFBI	0.028467	0.02513	N	-1.31159976518501	0.03542	0.1583785	-1.15968716152269	0.06595	0.3180061	0.103135704250335	0.16438	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.755437	0.99637	0	.	.	4.21	-1.39	0.08526	-0.035000	0.12156	-0.014000	0.13018	-0.187000	0.09635	0.131000	0.23362	0.143000	0.23109	0.980000	0.58198	0.6049:0.0:0.3951:0.0	7.758	0.28099	887	0.27948	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	538.83	54	chr1	35114576	.	A	G	538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.804;DP=232;ExcessHet=0;FS=1.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-2.184;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	5	0	1	0
chr1	35474896	35474896	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon5:c.A924C:p.E308D	.	434	1076	12	0	0	12	0.00554529	.	.	.	2812629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.0103198522308	0.0012	0.00119808	0.0012	0	0.0003	0	0.0003	0.0008	0.0055	0.0054	0.001216	188	154602	rs151103704	0.0013	0.0013	0.0012	0.0015	0.0055	0.0013	0.0012	0.0051	0.0049	0.0002	0.0002	7.708e-05	0	0.0002	0.0017	0.0012	0.0010	0.0055	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0003	0	0	0	0.0002	0.0003	0	0.0015	0	0.0043	0.046	0.40573	D	0.052	0.47581	T	0.321	0.33029	B	0.101	0.30765	B	0.000085	0.51296	D	0.168326	0.997144	0.43662	D	2.485	0.72352	M	3.07	0.14907	T	-1.69	0.41618	N	0.088	0.06587	-1.1169	0.02538	T	0.070	0.28577	T	10	0.0061453283	0.00138	T	0.01032	0.26719	T	0.047	0.12962	0.369	0.37850	0.233785782151	0.22967	0.3221979876497507	0.32132	0.296860669907	0.32077	0.377983748913	0.21970	T	0.047388	0.27709	T	-0.618871	0.00112	T	-0.660099	0.08259	T	0.0408378993508939	0.03843	T	0.874613	0.66542	D	0.15743412	0.35475	0.105926834	0.25473	0.15743412	0.35475	0.105926834	0.25472	-6.602	0.51068	T	.	.	0.123	0.39898	B	.;.;.	.;.;.	2.109641	0.26843	17.26	0.99708219864570524	0.81143	0.42964	0.26994	N	AEFBI	0.104455	0.20899	N	-0.503944999118098	0.21951	1.168752	-0.465938729170982	0.23098	1.257919	0.855105320386184	0.25117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.8	-3.22	0.04808	0.183000	0.16729	-0.782000	0.07450	0.661000	0.55757	0.984000	0.35821	0.014000	0.20376	0.997000	0.79791	0.1381:0.5059:0.0:0.356	6.828	0.23080	346	0.85643	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.015152	0.08333	551.83	34	chr1	35474896	.	T	G	551.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.978;DP=241;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.092;SOR=0.515	GT:AD:DP:GQ:PL	0/1:40,26:66:99:562,0,1040	5	0	1	0
chr1	36039955	36039955	G	A	exonic	AGO3	.	nonsynonymous SNV	AGO3:NM_177422:exon13:c.G1306A:p.D436N,AGO3:NM_024852:exon15:c.G2008A:p.D670N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0622488240874	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480514125	1.369e-06	1.368e-06	0	2.751e-06	2.321e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.011	0.65728	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	1.19	0.37578	T	-3.72	0.72932	D	0.965	0.97535	-0.1399	0.79167	T	0.366	0.72635	T	10	0.98358697	0.98504	D	0.062249	0.68594	D	0.563	0.82118	0.962	0.99613	0.739009138995	0.73667	0.9503526665528812	0.95018	2.57827802418	0.98043	0.892363727093	0.95552	D	0.505812	0.82428	D	-0.0689205	0.41498	T	-0.236146	0.51175	T	0.979015231132507	0.72615	D	0.961704	0.85587	D	0.83461934	0.86226	0.61397547	0.77534	0.83461934	0.86227	0.61397547	0.77535	-9.868	0.75318	D	.	.	0.984	0.93151	P	.;.	.;.	5.014964	0.83309	28.0	0.99924109425656993	0.98980	0.99178	0.92379	D	AEFBI	0.860190	0.77801	D	1.04034296717345	0.96856	15.239	0.954066625738452	0.97525	16.27777	0.999999999925005	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	6.16	6.16	0.99302	10.003000	0.99689	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.860	0.99763	182	0.92924	Piwi domain|Piwi domain|Piwi domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	488.83	50	chr1	36039955	.	G	A	488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.496;DP=219;ExcessHet=0;FS=4.127;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.6;SOR=1.26	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	5	0	1	0
chr1	36289168	36289168	G	C	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.G1149C:p.L383F,THRAP3:NM_005119:exon5:c.G1149C:p.L383F,THRAP3:NM_001321471:exon6:c.G1149C:p.L383F	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00365096861627	0.0005	0.000399361	0.0007	0.0003	0.0003	0	0	0.0005	0.0022	0.0025	0.0005757	89	154602	rs143880396	0.0006	0.0006	0.0005	0.0007	0.0026	0.0005	0.0005	0.0023	0.0022	8.961e-05	0.0002	0	0	0	0	0.0005	0.0006	0.0026	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0.0002	0	0.0001	0	0	0	0	0.0005	0.0005	0.0023	0.114	0.28646	T	0.717	0.05398	T	0.852	0.47012	P	0.509	0.47904	P	0.021364	0.26847	N	0.259072	0.947668	0.26593	N	1.445	0.36358	L	2.47	0.14783	T	-0.11	0.08653	N	0.149	0.15187	-1.0709	0.09216	T	0.029	0.12365	T	10	0.008604348	0.00195	T	0.003651	0.08402	T	0.090	0.26093	0.109	0.01988	0.128874641272	0.12493	0.031235033467607348	0.03072	1.29145872245	0.82792	0.397834897041	0.24768	T	0.10514	0.41534	T	-0.520429	0.00438	T	-0.525574	0.19731	T	0.0256025769630305	0.01352	T	0.847115	0.52772	T	0.037835494	0.04926	0.052640162	0.08711	0.037835494	0.04925	0.052640162	0.08710	-3.059	0.10831	T	.	.	0.063	0.04806	B	.;.;.	.;.;.	2.622597	0.34083	19.53	0.9975862959388142	0.84851	0.94965	0.62950	D	AEFBI	0.326876	0.42802	N	-0.0582867665394554	0.39233	2.310331	-0.0280581160971079	0.38453	2.266	0.870680260429495	0.25410	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	2.03	0.25714	0.663000	0.24735	3.907000	0.40386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2759:0.0:0.5216:0.2026	2.991	0.05619	128	0.94857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	66.83	36	chr1	36289168	.	G	C	66.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.79;MQRankSum=0.574;QD=2.91;ReadPosRankSum=0.244;SOR=0.602	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,739	5	0	1	0
chr1	37815374	37815374	G	A	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon11:c.C2024T:p.A675V	.	8	1513	1	0	0	1	0.00033036	.	.	.	4029860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0038347081727	0.0002	.	3.3e-05	0	8.651e-05	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs138397545	1.779e-05	1.779e-05	1.361e-05	2.2e-05	4.472e-05	1.237e-05	1.051e-05	1.093e-05	8.81e-06	2.987e-05	4.472e-05	0	0	0	0	1.709e-05	4.967e-05	1.159e-05	2.629e-05	2.627e-05	5.138e-05	0	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0010	0	0.095	0.31235	T	0.332	0.18449	T	0.043	0.21573	B	0.012	0.16012	B	0.026435	0.25921	N	0.390592	0.993291	0.23738	N	0.345	0.11182	N	2.89	0.10196	T	-0.46	0.14978	N	0.032	0.00825	-0.9642	0.38370	T	0.012	0.04463	T	10	0.07101649	0.10412	T	0.003835	0.08961	T	0.059	0.16972	.	.	0.2419029386	0.23804	0.16383556690790674	0.16303	0.196549076281	0.22016	0.285941392183	0.08335	T	.	.	.	-0.413282	0.01891	T	-0.748562	0.03542	T	0.0524615049362183	0.05927	T	0.549445	0.18903	T	0.03104945	0.02876	0.053479936	0.09014	0.03104945	0.02875	0.053479936	0.09014	-4.061	0.24713	T	.	.	0.122	0.25364	B	.	.	1.723869	0.21947	15.42	0.90316029716270207	0.19583	0.94268	0.60628	D	AEFBI	0.195031	0.32208	N	-0.767950206355918	0.14150	0.7025744	-0.594634303422157	0.19632	1.054202	0.970185564459118	0.29188	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	4.84	0.62125	4.162000	0.57962	5.014000	0.46692	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.1418:0.0:0.8582:0.0	11.081	0.47281	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2043.83	33	chr1	37815374	.	G	A	2043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.313;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=0.284;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	5	0	1	0
chr1	38022733	38022733	G	A	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon7:c.G602A:p.C201Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00391737423566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.02568	T	0.132	0.34477	T	0.005	0.12996	B	0.002	0.06944	B	0.023434	0.26444	N	0.457210	0.632755	0.81001	D	0	0.06538	N	.	.	.	0.74	0.02038	N	0.424	0.46368	-1.0583	0.12184	T	0.072	0.29163	T	9	0.21849051	0.38492	T	0.003917	0.09242	T	0.097	0.27909	0.486	0.56939	0.639293935697	0.63632	0.4783418396554179	0.47754	0.400445151667	0.41042	0.377059042454	0.21839	T	0.041518	0.25883	T	-0.107735	0.35144	T	-0.392531	0.34256	T	0.231668532781598	0.22031	T	0.862314	0.55722	D	0.06432953	0.13637	0.09225612	0.21731	0.06432953	0.13637	0.09225612	0.21731	-0.052	0.00368	T	.	.	0.101	0.17530	B	.	.	1.764089	0.22436	15.62	0.49453151163170644	0.04213	0.87661	0.47275	D	AEFBCI	0.707431	0.66217	D	-0.204249634213397	0.32960	1.864569	0.0171652374562305	0.40511	2.418928	0.182551291527428	0.17892	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	3.99	0.45527	3.192000	0.50690	4.851000	0.45376	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1047:0.0:0.48:0.4153	6.040	0.18956	405	0.82444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	924.83	34	chr1	38022733	.	G	A	924.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.298;DP=238;ExcessHet=0;FS=5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.023;SOR=0.942	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	5	0	1	0
chr1	38046320	38046320	A	G	exonic	POU3F1	.	nonsynonymous SNV	POU3F1:NM_002699:exon1:c.T424C:p.S142P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.923623665945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.329	0.18617	T	0.898	0.49442	P	0.247	0.38902	B	0.310624	0.14440	N	0.591978	0.983746	0.40054	D	0.09	0.08384	N	-1.74	0.83413	D	0.25	0.04456	N	0.35	0.39153	-0.5055	0.68450	T	0.309	0.67913	T	10	0.29008308	0.46589	T	0.923624	0.99440	D	0.264	0.57741	0.219	0.14078	0.718519676408	0.71604	0.4834269180703046	0.48262	.	.	0.961445748806	0.99924	D	0.076013	0.35315	T	0.00670583	0.52576	T	-0.228144	0.51951	T	0.448929458856583	0.30758	T	0.408059	0.10511	T	0.13115847	0.30582	0.2055849	0.44735	0.13115847	0.30581	0.2055849	0.44734	-2.611	0.06587	T	.	.	0.156	0.34449	B	.	.	2.285506	0.29230	18.05	0.99016684769695074	0.50484	0.87247	0.46729	D	AEFDBHCI	0.554020	0.56503	D	0.0367532969168834	0.43534	2.644456	0.0416890228515537	0.41672	2.507519	0.999719967360756	0.42101	0.65757	0.49021	0	0.475579	0.06741	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.21	3.21	0.35933	0.288000	0.18695	6.773000	0.56565	0.570000	0.28895	0.048000	0.21332	1.000000	0.68203	0.323000	0.25040	1.0:0.0:0.0:0.0	8.104	0.30035	384	0.83545	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.83	36	chr1	38046320	.	A	G	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.565;DP=94;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.68;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:38046320_A_G:51,0,456:38046320	5	0	1	0
chr1	38046323	38046323	T	C	exonic	POU3F1	.	nonsynonymous SNV	POU3F1:NM_002699:exon1:c.A421G:p.M141V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.942540328279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.566	0.08930	T	0.414	0.35185	B	0.039	0.23607	B	0.385820	0.13325	U	0.659566	0.902091	0.27680	N	0.895	0.22405	L	-1.64	0.82533	D	-0.85	0.23156	N	0.264	0.29889	-0.8165	0.54152	T	0.275	0.64722	T	10	0.25350875	0.42719	T	0.94254	0.99595	D	0.237	0.54074	0.21	0.12781	0.479363622381	0.47567	0.49559835048345835	0.49480	.	.	0.940927028656	0.99490	D	0.143387	0.47948	T	0.01058	0.53103	T	-0.222579	0.52488	T	0.0975255488640971	0.12082	T	0.508249	0.16142	T	0.14069222	0.32450	0.16410406	0.38033	0.14069222	0.32450	0.16410406	0.38032	-2.306	0.04588	T	.	.	0.085	0.10304	B	.	.	2.218329	0.28306	17.75	0.89141194993157424	0.18545	0.10272	0.15824	N	AEFDBHCI	0.104687	0.20940	N	-0.652030389359277	0.17402	0.8951281	-0.620091289887355	0.18977	1.016176	0.999999960899049	0.74766	0.65757	0.49021	0	0.475579	0.06741	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.21	3.21	0.35933	0.590000	0.23655	4.376000	0.43165	0.504000	0.22967	0.048000	0.21332	1.000000	0.68203	0.279000	0.23992	0.0:0.0:0.0:1.0	9.806	0.39963	384	0.83545	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.83	36	chr1	38046323	.	T	C	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.031;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.68;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:38046320_A_G:51,0,456:38046320	5	0	1	0
chr1	38046636	38046636	-	GCC	exonic	POU3F1	.	nonframeshift insertion	POU3F1:NM_002699:exon1:c.107_108insGGC:p.A37_E38insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0	0	0.0010	0	0.0009	0.0001537	4	26028	rs767888115	0.0013	0.0012	0.0013	0.0013	0.0014	0.0013	0.0012	0.0014	0.0013	0.0008	6.173e-05	0.0005	0.0002	0.0013	0.0009	0.0014	0.0010	0.0008	0.0011	0.0012	0.0013	0.0010	0.0023	0.0010	0.0009	0.0014	0.0013	0.0005	0.0011	0.0006	0.0003	0.0008	0.0012	0	0.0016	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	367.01	32	chr1	38046636	.	G	GGCC	367.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=163;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.404;SOR=0.693	GT:AD:DP:GQ:PL	0/0:23,0:23:41:0,41,589	5	0	1	0
chr1	39372528	39372528	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon46:c.A6959G:p.N2320S	.	435	1070	17	0	0	17	0.00788132	.	.	.	1666742	Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.0140217105871	0.0010	0.00159744	0.0025	9.707e-05	0.0017	0	0.0008	0.0018	0.0033	0.0095	0.0022768	352	154602	rs148069432	0.0018	0.0018	0.0014	0.0022	0.0112	0.0017	0.0017	0.0106	0.0103	0.0001	0.0008	0.0001	2.52e-05	0.0010	0.0073	0.0012	0.0023	0.0112	0.0012	0.0012	0.0011	0.0012	0.0106	0.0010	0.0010	0.0083	0.0074	0.0003	0	0.0006	0	0	0.0004	0.0034	0.0014	0.0024	0.0106	0.047	0.40319	D	0.198	0.27767	T	0.756	0.43409	P	0.587	0.50368	P	0.000475	0.44119	D	0.097855	0.991281	0.47641	D	.	.	.	1.25	0.36512	T	-3.48	0.68298	D	0.272	0.30800	-1.0143	0.25561	T	0.087	0.33857	T	10	0.0056358874	0.00125	T	0.014022	0.33851	T	0.078	0.22779	.	.	0.350697349064	0.34675	0.2509075869118216	0.25004	.	.	0.372067987919	0.21128	T	0.158204	0.83479	T	-0.585328	0.00179	T	-0.604164	0.12463	T	0.0798498266153988	0.09968	T	0.89891	0.65471	D	0.048631538	0.08506	0.08550179	0.19747	0.047225796	0.08038	0.08960598	0.20963	-8.263	0.67394	D	.	.	0.088	0.11701	B	.;.;.;.;.	.;.;.;.;.	1.564903	0.20044	14.56	0.99354921868190538	0.60738	0.80897	0.40420	D	AEFDBI	0.154011	0.27896	N	0.0397473736906661	0.43673	2.655599	0.197441580791304	0.49707	3.170703	0.997098033228771	0.35269	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	2.012000	0.40551	2.292000	0.31965	0.756000	0.94297	0.915000	0.31815	0.886000	0.27767	0.995000	0.73285	0.7098:0.1813:0.1088:0.0	5.090	0.14037	593	0.68665	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.015152	0.004076	0.005848	0.000000	0.008621	0.012195	0.018939	0.08333	980.83	39	chr1	39372528	.	A	G	980.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.285;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.497;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	5	0	1	0
chr1	39411394	39411394	G	A	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.G1129A:p.D377N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00441726782111	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264005146	1.437e-05	1.436e-05	9.529e-06	1.925e-05	3.478e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	2.987e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.29740	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.027	0.00571	-1.0189	0.24074	T	0.039	0.16720	T	9	0.07123226	0.10471	T	0.004417	0.10812	T	0.101	0.28911	.	.	0.123314135267	0.11883	.	.	0.0485289937825	0.05301	0.254894733429	0.04301	T	0.04681	0.27536	T	-0.36287	0.03970	T	-0.759014	0.03148	T	0.334795713424683	0.26417	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.16843	B	.;.	.;.	0.859556	0.12321	8.859	0.94182131412593095	0.24402	0.12005	0.17000	N	AEFDGBCI	0.058134	0.10885	N	-0.858513544910281	0.11840	0.5736914	-0.848022501064318	0.13335	0.6912066	0.999998413108543	0.74766	0.627647	0.40530	0	0.289287	0.05216	2	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	-0.0608	0.13119	-0.290000	0.08390	-0.212000	0.10844	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3625:0.1443:0.4932:0.0	5.006	0.13630	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1261.83	35	chr1	39411394	.	G	A	1261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.01;DP=313;ExcessHet=0;FS=5.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.343;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1338	5	0	1	0
chr1	39429863	39429863	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon59:c.G10739A:p.G3580D	.	425	1091	6	0	0	6	0.00274223	.	.	.	1924772	not_provided|Lissencephaly_9_with_complex_brainstem_malformation|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.468	0.00950537068572	0.0008	.	0.0005	0.0002	0.0002	0	0	0.0008	0	6.057e-05	0.0004463	69	154602	rs148290248	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0005	0.0005	0.0002	0.0002	0	0	1.872e-05	0.0009	0.0006	0.0003	5.797e-05	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0.0003	0	0	0	0.0006	0.0014	0.0002	0.176	0.38633	T	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.48	0.31731	T	-6.05	0.89796	D	0.816	0.83167	-0.3920	0.72279	T	0.410	0.75860	T	10	0.42174366	0.56909	T	0.009505	0.24878	T	0.468	0.76289	.	.	0.514368863035	0.51079	0.424295431875202	0.42346	.	.	0.866641044617	0.92084	D	0.166858	0.78294	T	-0.0129962	0.49845	T	0.126772	0.78680	D	0.217097858900162	0.21318	T	0.963804	0.86607	D	0.51165366	0.67776	0.798651	0.88185	0.51165366	0.67777	0.798651	0.88186	-8.979	0.67562	D	.	.	0.474	0.66816	A	.;.;.;.;.	.;.;.;.;.	3.435290	0.47760	22.5	0.99808644275896352	0.89264	0.99600	0.97861	D	AEFBI	0.913309	0.87511	D	0.622818785323024	0.74620	6.163702	0.708236319803082	0.83004	7.909461	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	10.003000	0.99689	8.697000	0.78095	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.653	0.99601	804	0.43891	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	1095.83	37	chr1	39429863	.	G	A	1095.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=265;ExcessHet=0;FS=3.036;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.34;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	5	0	1	0
chr1	41018023	41018023	C	T	exonic	SLFNL1	.	nonsynonymous SNV	SLFNL1:NM_001377532:exon2:c.G569A:p.G190D,SLFNL1:NM_144990:exon3:c.G569A:p.G190D,SLFNL1:NM_001168247:exon4:c.G569A:p.G190D	.	313	1208	1	0	0	1	0.000413736	.	.	.	3333063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00259973223465	0.0002	.	6.945e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs367665847	3.522e-05	3.694e-05	3.98e-05	3.058e-05	9.039e-06	2.722e-05	2.461e-05	4.57e-06	3.33e-06	0	0	0.0015	0	0	0	9.039e-06	5.013e-05	0	3.943e-05	3.941e-05	3.854e-05	4.036e-05	.	1.716e-05	1.13e-05	.	.	0	0	0	0.0017	0	0	0	0	0	0	0.148	0.24857	T	0.577	0.08900	T	0.047	0.24389	B	0.036	0.22909	B	0.005232	0.01068	N	2.797590	1	0.19238	N	0.345	0.11182	N	2.03	0.20959	T	-0.32	0.12283	N	0.162	0.18376	-1.0521	0.13818	T	0.027	0.11574	T	10	0.01474908	0.00310	T	0.003	0.05263	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.18522486157562723	0.18440	0.0602390812527	0.06699	0.261511296034	0.05072	T	0.001213	0.00709	T	-0.351272	0.04647	T	-0.652624	0.08770	T	0.484502702951431	0.32062	T	0.381062	0.09207	T	0.04912929	0.08673	0.09139055	0.21485	0.04912929	0.08673	0.09139055	0.21484	-3.069	0.11045	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	-0.481892	0.01925	0.162	0.61318758018855313	0.06679	0.01401	0.04748	N	AEFDBCI	0.018233	0.00538	N	-1.61194808695223	0.01206	0.05243335	-1.75085376519567	0.00930	0.04161703	0.999999996614142	0.74766	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	5.24	-9.75	0.00422	-2.756000	0.00859	-0.548000	0.08544	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1016:0.1744:0.3013:0.4228	2.702	0.04831	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	911.83	61	chr1	41018023	.	C	T	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.498;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.53;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1145	5	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.08333	603.83	48	chr1	41510704	.	C	T	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.137;DP=198;ExcessHet=0;FS=11.253;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=-0.106;SOR=0.037	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1031	5	0	1	0
chr1	41513042	41513042	T	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.A6179T:p.D2060V,HIVEP3:NM_024503:exon8:c.A6179T:p.D2060V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00336926760478	.	0.000399361	0.0003	0	8.7e-05	0	0	0	0.0012	0.0018	0.0002199	34	154602	rs539280427	0.0001	0.0001	5.446e-05	0.0001	0.0017	8.715e-05	8.202e-05	0.0015	0.0014	0	0	0	0	0	0	0	3.312e-05	0.0017	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.312e-05	3.037e-05	0	0	0	0	0	0	0	0	0	0.0004	0.077	0.34095	T	0.276	0.22494	T	0.001	0.07471	B	0.003	0.08700	B	0.928553	0.08437	N	0.958329	0.986648	0.24596	N	2.08	0.57402	M	3.35	0.05989	T	-0.46	0.14978	N	0.29	0.32812	-0.9145	0.46285	T	0.009	0.03271	T	10	0.0087482035	0.00198	T	0.003369	0.07542	T	0.103	0.29403	0.142	0.04556	0.12205267543	0.11705	0.1877347703169098	0.18691	0.26906606016	0.29422	0.455629467964	0.32713	T	0.081719	0.36662	T	-0.499352	0.00576	T	-0.496228	0.22739	T	0.0353407950032584	0.02867	T	0.570043	0.20293	T	0.11621755	0.27414	0.060215384	0.11430	0.11621755	0.27414	0.060215384	0.11430	-3.503	0.16473	T	.	.	0.097	0.17615	B	.;.;.	.;.;.	2.045833	0.26006	16.97	0.9041594579640575	0.19676	0.43874	0.27194	N	AEFDBHI	0.071548	0.14249	N	-0.752751256010454	0.14559	0.7262308	-0.64875664440181	0.18248	0.973996	0.998437412375822	0.36959	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.67	1.2	0.20181	0.269000	0.18354	2.600000	0.33516	0.502000	0.22824	0.176000	0.24013	1.000000	0.68203	0.649000	0.32665	0.2105:0.1214:0.0:0.6681	3.041	0.05768	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	590.83	60	chr1	41513042	.	T	A	590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.422;DP=250;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.103;SOR=0.997	GT:AD:DP:GQ:PL	0/1:26,22:48:99:601,0,707	5	0	1	0
chr1	42738514	42738514	C	T	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001123395:exon2:c.G295A:p.V99I,CLDN19:NM_001185117:exon2:c.G295A:p.V99I,CLDN19:NM_148960:exon2:c.G295A:p.V99I	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0577691955165	.	.	7.488e-05	0	0	0	0.0002	0.0001	0	0	5.82e-05	9	154602	rs752926836	2.326e-05	2.326e-05	3.131e-05	1.513e-05	2.518e-05	1.674e-05	1.477e-05	1.746e-05	1.503e-05	0	0	0	0	0.0001	0	2.518e-05	0	0	2.628e-05	2.626e-05	3.853e-05	1.345e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	9.413e-05	0	0	0.0005	0	0.285	0.16628	T	0.565	0.23097	T	0.979	0.59044	D	0.701	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.775	0.19437	N	-2.51	0.89293	D	-0.33	0.13035	N	0.324	0.37093	-0.0142	0.81960	T	0.593	0.85456	D	10	0.30832154	0.48328	T	0.057769	0.67084	D	0.458	0.75619	0.501	0.59304	0.792991935701	0.79106	0.44643663879565365	0.44561	0.722490668574	0.62282	0.655031621456	0.60700	T	0.293274	0.66598	T	-0.0577867	0.43252	T	-0.12314	0.61543	T	0.204735174775124	0.20674	T	0.814619	0.46941	T	0.17563458	0.38432	0.16240235	0.37727	0.17563458	0.38432	0.16240235	0.37726	-3.261	0.13239	T	0.1309966575369276	0.13834	0.121	0.24967	B	.;.;.	.;.;.	3.695560	0.52675	23.3	0.99780562508736903	0.86780	0.94165	0.60310	D	AEFDBI	0.730957	0.67819	D	0.134825852912223	0.48094	3.026129	0.169875839404158	0.48204	3.039577	0.99999999999998	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.89	4.89	0.63387	6.167000	0.71757	5.893000	0.50786	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.366000	0.26021	0.0:1.0:0.0:0.0	15.548	0.75864	507	0.75469	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1581.83	34	chr1	42738514	.	C	T	1581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.853;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.61;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1240	5	0	1	0
chr1	43171575	43171575	G	C	exonic	EBNA1BP2	.	nonsynonymous SNV	EBNA1BP2:NM_006824:exon3:c.C227G:p.P76R,EBNA1BP2:NM_001159936:exon4:c.C392G:p.P131R	.	434	1070	18	0	0	18	0.00834106	.	.	.	696750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0055	0.00179712	0.0063	0.0021	0.0016	0	0.0191	0.0079	0.0110	0.0041	0.0060866	941	154602	rs11559316	0.0076	0.0076	0.0077	0.0074	0.0082	0.0074	0.0074	0.0081	0.0080	0.0011	0.0014	0.0016	2.519e-05	0.0181	0.0064	0.0082	0.0071	0.0038	0.0073	0.0073	0.0066	0.0080	0.0107	0.0070	0.0068	0.0101	0.0098	0.0017	0	0.0018	0.0017	0	0.0245	0.0068	0.0107	0.0019	0.0033	0.002	0.78490	D	0.005	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.093751	0.999963	0.52935	D	3.155	0.88459	M	0.65	0.52642	T	-6.98	0.93582	D	0.478	0.56748	-0.6060	0.64569	T	0.208	0.56690	T	10	0.009445906	0.00213	T	.	.	.	0.331	0.65325	.	.	0.758294732748	0.75610	0.3343831222421954	0.33351	0.628309076894	0.56911	0.546327590942	0.45338	T	0.06041	0.41268	T	-0.342271	0.05232	T	-0.252101	0.49609	T	0.0980403580858223	0.12140	T	0.79692	0.44048	T	0.72705746	0.79558	0.67844325	0.81111	0.72705746	0.79559	0.67844325	0.81112	-5.318	0.40121	T	.	.	0.138	0.30076	B	.;.	.;.	4.684610	0.75006	26.3	0.99686465194438589	0.79641	0.85854	0.45035	D	AEFDGBCI	0.461788	0.51140	N	0.484012327401887	0.66155	4.913866	0.395182558167081	0.61268	4.32448	0.999999995486169	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.91	4.98	0.65679	3.906000	0.56053	8.533000	0.77464	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0737:0.0:0.7779:0.1484	8.987	0.35161	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.000000	0.000000	0.008621	0.021341	0.011364	0.08333	1733.83	35	chr1	43171575	.	G	C	1733.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.167;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.11;SOR=0.747	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1311	5	0	1	0
chr1	43425140	43425140	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon18:c.G2578A:p.E860K,SZT2:NM_015284:exon18:c.G2578A:p.E860K	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	428	1077	17	0	0	17	0.00783049	.	.	.	238286	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_18|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0062	0.0115815	0.0137	0.0030	0.0815	0	0.0047	0.0079	0.0110	0.0071	0.0129882	2008	154602	rs143992266	0.0089	0.0090	0.0091	0.0088	0.0688	0.0088	0.0088	0.0668	0.0660	0.0022	0.0688	0.0062	0	0.0034	0.0078	0.0076	0.0083	0.0073	0.0097	0.0097	0.0097	0.0096	0.0435	0.0092	0.0091	0.0408	0.0397	0.0028	0	0.0435	0.0072	0	0.0042	0.0102	0.0082	0.0118	0.0073	0.166	0.23183	T	0.746	0.05018	T	0.0	0.02946	B	0.0	0.01387	B	0.086746	0.20570	N	0.499535	1	0.08975	N	0	0.06538	N	.	.	.	-1.12	0.28906	N	0.071	0.04426	-1.0404	0.17192	T	0.009	0.03054	T	9	0.0014998913	0.00017	T	.	.	.	.	.	.	.	.	.	0.24522843984122217	0.24436	0.296145491663	0.31998	0.364407449961	0.20026	T	0.037386	0.24457	T	-0.568671	0.00225	T	-0.53456	0.18833	T	0.00293386876584182	0.00031	T	0.708829	0.31953	T	0.026596127	0.01736	0.06328316	0.12514	0.035250254	0.04113	0.0485871	0.07247	-4.234	0.27241	T	0.08461534247174136	0.04687	0.071	0.03925	B	.;.	.;.	2.300952	0.29439	18.12	0.99411341808728793	0.63310	0.03568	0.08778	N	AEFGBI	0.048444	0.08267	N	-0.733146932108604	0.15094	0.7577422	-0.60612343624952	0.19334	1.036922	0.903313188003709	0.26149	0.651	0.46895	0	0.552637	0.17590	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.56	1.24	0.20416	1.925000	0.39705	3.314000	0.37488	0.674000	0.70861	0.008000	0.17931	0.935000	0.28640	0.971000	0.54645	0.3205:0.1314:0.5481:0.0	6.135	0.19446	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011581	0.015152	0.012228	0.005848	0.000000	0.008621	0.024390	0.000000	0.08333	2991.83	35	chr1	43425140	.	G	A	2991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.688;DP=377;ExcessHet=0;FS=4.08;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=1.57;SOR=0.969	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	5	0	1	0
chr1	43603823	43603823	C	T	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_130440:exon15:c.C2644T:p.R882W,PTPRF:NM_002840:exon16:c.C2671T:p.R891W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0532842122816	.	.	1.651e-05	9.645e-05	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767075536	1.231e-05	1.231e-05	1.089e-05	1.375e-05	8.961e-05	7.7e-06	6.35e-06	2.374e-05	1.258e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	1.169e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.541e-05	0	0	0	0	0	0	0	0.021	0.49117	D	0.003	0.76473	D	0.995	0.67487	D	0.863	0.61398	P	0.007514	0.31355	N	0.000000	0.998478	0.44966	D	2.89	0.83701	M	0.15	0.60734	T	-6.0	0.89534	D	0.431	0.47022	-0.4942	0.68857	T	0.333	0.70018	T	10	0.58116496	0.65858	D	0.053284	0.65408	D	0.418	0.72780	0.661	0.79894	0.597428956802	0.59422	0.7530629465998118	0.75253	0.943060605836	0.72287	0.276582896709	0.07021	T	0.404966	0.76128	T	-0.0976765	0.36810	T	-0.196554	0.54974	T	0.955503284931183	0.64524	D	0.943906	0.78806	D	0.14620465	0.33480	0.1735793	0.39694	0.14620465	0.33480	0.1735793	0.39693	-9.634	0.71944	D	.	.	0.131	0.28145	B	.;.	.;.	3.725485	0.53263	23.3	0.99916288244073848	0.98449	0.89635	0.50226	D	AEFDBI	0.690992	0.65114	D	0.44725902392536	0.64046	4.650777	0.358126938379775	0.59000	4.074171	0.568458028818479	0.21472	0.706548	0.73137	0	0.659912	0.62753	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	1.92	0.24912	2.803000	0.47620	1.666000	0.27927	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.3145:0.5066:0.0:0.1788	5.018	0.13687	635	0.64580	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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2867.83	35	chr1	43603823	.	C	T	2867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=405;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.75;SOR=0.853	GT:AD:DP:GQ:PL	0/1:116,106:222:99:2878,0,2924	5	0	1	0
chr1	43621945	43621945	A	G	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_001329140:exon31:c.A4754G:p.Q1585R,PTPRF:NM_001329139:exon33:c.A4814G:p.Q1605R,PTPRF:NM_130440:exon33:c.A5639G:p.Q1880R,PTPRF:NM_002840:exon34:c.A5666G:p.Q1889R,PTPRF:NM_001329137:exon35:c.A4832G:p.Q1611R,PTPRF:NM_001329138:exon37:c.A4856G:p.Q1619R	.	.	.	.	.	.	.	.	.	.	.	780705	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.485	0.0248005545375	.	0.000798722	0.0006	0	0.0003	0	0	0	0	0.0045	0.0005239	81	154602	rs200249684	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0002	0.0042	0.0040	0	4.472e-05	0	0	0	0.0009	8.993e-07	8.279e-05	0.0046	9.848e-05	9.842e-05	3.855e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.001	0.78490	D	0.092	0.39954	T	0.524	0.37583	P	0.251	0.39041	B	0.005850	0.32460	N	0.000000	1	0.81001	D	0.345	0.11182	N	-1.73	0.83327	D	-2.93	0.65512	D	0.619	0.69387	-0.8183	0.54040	T	0.212	0.57227	T	10	0.024730116	0.00691	T	0.024801	0.47786	T	0.615	0.84986	.	.	0.983557442206	0.98337	0.6672465006630891	0.66662	1.52427045819	0.87473	0.832796096802	0.86991	D	0.555154	0.85008	D	0.0552231	0.59011	T	0.307226	0.88530	D	0.202346935032102	0.20545	T	0.932307	0.74741	D	0.6516417	0.75452	0.62377554	0.78075	0.7185317	0.79081	0.63143957	0.78499	-9.108	0.68388	D	.	.	0.362	0.57732	A	.;.;.	.;.;.	3.913235	0.57078	23.8	0.99437051166095658	0.64571	0.97996	0.78734	D	AEFDBCI	0.961705	0.98304	D	0.400632417148452	0.61458	4.347108	0.495194730072185	0.67670	5.11535	0.999999917189425	0.74766	0.706548	0.73137	0	0.693144	0.66847	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.325000	0.96006	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.559	0.75959	592	0.68746	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|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1069.83	34	chr1	43621945	.	A	G	1069.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.468;DP=290;ExcessHet=0;FS=1.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.2;SOR=0.896	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	5	0	1	0
chr1	44220120	44220120	G	T	exonic	DMAP1	.	nonsynonymous SNV	DMAP1:NM_019100:exon9:c.G1155T:p.E385D,DMAP1:NM_001034023:exon10:c.G1155T:p.E385D,DMAP1:NM_001034024:exon10:c.G1155T:p.E385D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.00894283000242	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951792544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.18757	T	0.107	0.37730	T	0.501	0.37169	P	0.333	0.42166	B	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.78	0.46185	L	.	.	.	-1.39	0.34397	N	0.837	0.83678	-0.8283	0.53410	T	0.196	0.55100	T	9	0.5898437	0.66318	D	0.008943	0.23559	T	0.516	0.79340	0.615	0.74884	0.365892764245	0.36201	0.78673364916191	0.78625	0.542418983261	0.51350	0.833360314369	0.87078	D	0.264694	0.63649	T	0.118814	0.66252	D	-0.0671077	0.65831	T	0.718208134174347	0.41609	D	0.926107	0.72788	D	0.12469518	0.29251	0.15334283	0.36039	0.12469518	0.29251	0.15334283	0.36038	-4.938	0.36159	T	.	.	0.236	0.46949	B	.;.;.	.;.;.	2.495504	0.32200	18.97	0.99396842821314257	0.62610	0.88529	0.48499	D	AEFBCI	0.497770	0.53215	N	-0.0179043173281135	0.41046	2.44817	0.0396768892274005	0.41576	2.500103	0.997910022406299	0.36186	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.09	3.19	0.35720	1.185000	0.31675	4.417000	0.43302	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.3018:0.0:0.6982:0.0	9.302	0.37013	252	0.90114	DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1;DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1;DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1463.83	34	chr1	44220120	.	G	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.625;DP=305;ExcessHet=0;FS=3.272;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.343;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	5	0	1	0
chr1	46303168	46303168	C	T	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon1:c.G155A:p.R52Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.741870939924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327637610	2.85e-06	8.209e-06	4.242e-06	1.436e-06	2.683e-05	6.7e-07	4.5e-07	7.3e-07	2e-07	0	0	0	2.683e-05	0	0	2.753e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.326	0.18789	T	0.948	0.53620	P	0.396	0.44364	B	0.079553	0.20977	N	0.384836	0.860965	0.28356	N	0.55	0.14455	N	-1.74	0.83413	D	-0.53	0.16393	N	0.342	0.52297	-0.4764	0.69498	T	0.396	0.74887	T	10	0.40685165	0.55952	T	0.741871	0.97933	D	0.235	0.53788	0.264	0.20946	0.469009519116	0.46530	0.38413547359813144	0.38328	1.24358563455	0.81613	0.785909295082	0.79821	T	0.003387	0.02788	T	0.0123184	0.53340	T	-0.220082	0.52729	T	0.464856873882974	0.31343	T	0.857714	0.54741	D	0.07363457	0.16468	0.04818582	0.07105	0.07363457	0.16467	0.04818582	0.07105	-4.795	0.34533	T	.	.	0.189	0.45124	B	.;.;.	.;.;.	4.731152	0.76202	26.5	0.99846871497108414	0.92663	0.47237	0.27938	N	ALL	0.217342	0.34248	N	0.238861831111646	0.53090	3.47958	0.325050639242633	0.57017	3.866055	0.999999999999961	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.24	5.24	0.72863	1.468000	0.34941	7.624000	0.62436	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.7723:0.1476:0.0801	9.329	0.37172	95	0.96074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	361.83	36	chr1	46303168	.	C	T	361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=224;ExcessHet=0;FS=2.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.515;SOR=0.977	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1182	5	0	1	0
chr1	46346991	46346991	G	A	exonic	NSUN4	.	nonsynonymous SNV	NSUN4:NM_001256127:exon3:c.G361A:p.G121S,NSUN4:NM_001256128:exon3:c.G361A:p.G121S,NSUN4:NM_199044:exon3:c.G508A:p.G170S	.	.	.	.	.	.	.	.	.	.	.	3359486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00516566083029	7.7e-05	.	9.887e-05	9.61e-05	0	0	0.0011	5.997e-05	0	0	8.41e-05	13	154602	rs375507367	0.0001	0.0001	9.665e-05	0.0001	0.0003	9.468e-05	8.95e-05	6.409e-05	5.91e-05	0	2.236e-05	0	0	0.0012	0.0003	7.734e-05	6.623e-05	1.159e-05	9.202e-05	9.195e-05	3.856e-05	0.0001	2.414e-05	5.53e-05	4.366e-05	.	.	2.414e-05	0	0	0	0	0.0012	0	0	0	0	0.228	0.23007	T	0.305	0.24621	T	0.069	0.23796	B	0.028	0.21332	B	0.000041	0.55875	D	0.186826	0.98151	0.39785	D	1.03	0.25572	L	2.91	0.10008	T	0.6	0.02808	N	0.132	0.12770	-1.0369	0.18264	T	0.020	0.08407	T	10	0.0359056	0.01861	T	0.005166	0.13125	T	0.084	0.24469	.	.	0.490282680104	0.48660	0.3088274561817389	0.30795	0.29056830254	0.31466	0.499171555042	0.38712	T	0.001166	0.00668	T	-0.351138	0.04655	T	-0.560634	0.16317	T	0.0343085306028162	0.02691	T	0.893911	0.64469	D	0.33309546	0.55722	0.1074887	0.25877	0.33309546	0.55722	0.1074887	0.25876	-6.032	0.46546	T	.	.	0.120	0.24867	B	.;.	.;.	3.813027	0.55007	23.6	0.99298052787756508	0.58505	0.92999	0.57071	D	AEFBI	0.303758	0.41165	N	-0.146975165578928	0.35362	2.030275	0.0393801553495189	0.41562	2.499	0.999979353155456	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	3.315000	0.51661	8.479000	0.77294	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.1518:0.0:0.8482:0.0	9.818	0.40033	95	0.96074	SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1351.83	38	chr1	46346991	.	G	A	1351.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.733;DP=275;ExcessHet=0;FS=2.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.671;SOR=1.05	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1418	5	0	1	0
chr1	46551184	46551184	C	T	exonic	KNCN	.	nonsynonymous SNV	KNCN:NM_001097611:exon1:c.G32A:p.R11H,KNCN:NM_001322255:exon1:c.G32A:p.R11H	.	427	1091	4	0	0	4	0.00182983	.	.	.	4152452	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.027303387292	.	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs566594574	6.654e-05	6.704e-05	6.552e-05	6.757e-05	0.0007	5.577e-05	5.167e-05	0.0002	0.0001	0	0	7.682e-05	2.548e-05	0	0.0007	6.215e-05	8.3e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0002	4.956e-05	3.962e-05	6.283e-05	4.3e-05	0.0001	0	6.541e-05	0	0	0	0	7.348e-05	0	0.0002	0.479	0.18122	T	0.063	0.45110	T	0.007	0.14184	B	0.005	0.11217	B	.	.	.	.	0.973483	0.25544	N	.	.	.	-0.43	0.69657	T	-0.31	0.41239	N	0.118	0.32921	-0.9638	0.38448	T	0.178	0.52318	T	8	0.051455677	0.05028	T	0.027303	0.50125	D	0.060	0.17295	.	.	0.0806252709748	0.07271	0.26505340007804873	0.26418	0.493367281351	0.47936	0.226985111833	0.01753	T	0.013329	0.11547	T	-0.372845	0.03452	T	-0.513663	0.20939	T	0.0701168928721182	0.08667	T	0.70353	0.31362	T	0.026938478	0.01817	0.05684567	0.10229	0.026938478	0.01816	0.05684567	0.10229	-4.519	0.33968	T	.	.	0.071	0.08997	B	.;.	.;.	0.820762	0.11921	8.482	0.96578730352472708	0.30326	0.36461	0.25538	N	AEFDBI	0.076777	0.15453	N	-0.795070048513756	0.13438	0.6619885	-0.713916629579675	0.16614	0.8797467	0.999952726534339	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	5.39	1.44	0.21647	-0.134000	0.10415	-1.313000	0.05742	-0.172000	0.11096	0.980000	0.35271	0.000000	0.08366	0.513000	0.29313	0.0:0.6925:0.0:0.3075	9.950	0.40806	102	0.95784	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	532.83	46	chr1	46551184	.	C	T	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.175;DP=215;ExcessHet=0;FS=4.517;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.33;SOR=0.219	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	5	0	1	0
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	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	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.08333	2172.83	39	chr1	46673263	.	C	T	2172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=548;ExcessHet=0;FS=1.207;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.293;SOR=0.796	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2183,0,2239	5	0	1	0
chr1	47033289	47033289	G	A	exonic	CYP4X1	.	nonsynonymous SNV	CYP4X1:NM_001320289:exon4:c.G410A:p.R137H,CYP4X1:NM_001320290:exon4:c.G218A:p.R73H,CYP4X1:NM_178033:exon4:c.G413A:p.R138H	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0395898544656	0.0003	0.00139776	0.0013	0.0002	0.0006	0.0001	0.0002	0.0005	0.0022	0.0069	0.0011966	185	154602	rs116257861	0.0008	0.0008	0.0005	0.0011	0.0079	0.0007	0.0007	0.0074	0.0072	0.0001	0.0005	7.656e-05	2.519e-05	1.872e-05	0.0026	0.0003	0.0011	0.0079	0.0006	0.0006	0.0004	0.0007	0.0060	0.0005	0.0004	0.0043	0.0037	9.636e-05	0	0.0010	0	0	0	0	0.0005	0.0009	0.0060	0.035	0.43708	D	0.02	0.58613	D	0.562	0.38380	P	0.219	0.37734	B	0.531480	0.11634	N	0.809286	1	0.08975	N	1.985	0.53793	M	-0.62	0.71895	T	-3.25	0.65283	D	0.179	0.19325	-0.6553	0.62482	T	0.348	0.71289	T	10	0.013477117	0.00286	T	0.03959	0.58894	D	0.232	0.53354	.	.	0.480123561213	0.47641	0.4720801227428827	0.47127	0.301512044459	0.32488	0.189154773951	0.00210	T	0.226792	0.59191	T	-0.473652	0.00807	T	-0.449559	0.27747	T	0.0575023924411078	0.06769	T	0.866613	0.56692	D	0.14327788	0.32936	0.10713784	0.25788	0.14327788	0.32936	0.10713784	0.25787	-6.489	0.50201	T	.	.	0.137	0.29941	B	.	.	1.863239	0.23667	16.11	0.99109552275995028	0.52699	0.10232	0.15795	N	AEFBI	0.155179	0.28033	N	-0.754643025364553	0.14507	0.7232336	-0.818700918087047	0.14042	0.7317067	0.00688395599055289	0.11333	0.638212	0.43195	0	0.624306	0.53593	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.91	-1.51	0.08207	1.063000	0.30177	-0.381000	0.09541	-0.188000	0.09543	0.001000	0.13787	0.000000	0.08366	0.864000	0.41028	0.4727:0.0:0.5273:0.0	12.505	0.55317	474	0.77851	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.011364	0.08333	950.83	33	chr1	47033289	.	G	A	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.865;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1049	5	0	1	0
chr1	47417213	47417213	A	G	exonic	FOXE3	.	nonsynonymous SNV	FOXE3:NM_012186:exon1:c.A898G:p.S300G	Anterior segment dysgenesis 2, multiple subtypes, Autosomal recessive;Cataract 34, multiple types	11	1478	31	2	0	35	0.0117018	.	.	.	270847	not_specified|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Anterior_segment_dysgenesis|Congenital_primary_aphakia|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632|MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	.	.	0.00159744	0.0056	0	0	0	.	0.0140	0	0.0046	0.0004463	69	154602	rs552420470	0.0031	0.0028	0.0031	0.0031	0.0075	0.0030	0.0030	0.0052	0.0044	0.0004	0.0010	0.0068	0	0.0162	0.0075	0.0027	0.0044	0.0023	0.0035	0.0035	0.0028	0.0042	0.0034	0.0032	0.0031	0.0030	0.0029	0.0009	0.0198	0.0009	0.0072	0	0.0174	0.0068	0.0034	0.0014	0.0031	0.792	0.03184	T	0.539	0.09795	T	0.0	0.02946	B	0.0	0.01387	B	0.295066	0.14698	N	0.476851	0.999999	0.08975	N	-0.55	0.02420	N	-3.35	0.94022	D	-0.04	0.07590	N	0.009	0.00081	-0.5843	0.65447	T	0.449	0.78413	T	10	0.002399385	0.00036	T	.	.	.	0.290	0.60924	.	.	0.278968121808	0.27521	0.25902939876241915	0.25816	.	.	0.85276901722	0.90032	D	0.047203	0.27653	T	-0.49657	0.00598	T	-0.485524	0.23862	T	0.00355428885476566	0.00038	T	0.349665	0.07767	T	0.0522095	0.09705	0.084667906	0.19493	0.06239897	0.13029	0.09056662	0.21243	-1.467	0.01698	T	.	.	0.063	0.01428	B	.	.	0.543012	0.09114	5.899	0.54533621611238681	0.05157	0.04776	0.10488	N	AEFDBHCI	0.022941	0.01212	N	-1.41013078079519	0.02549	0.1127034	-1.40882137805127	0.03163	0.1470107	0.99369782197003	0.33317	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.4	-2.55	0.05922	-0.911000	0.04159	0.151000	0.15292	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3845:0.0:0.6155:0.0	11.549	0.49966	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006151	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.025641	0.08333	252.83	35	chr1	47417213	.	A	G	252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.881;DP=165;ExcessHet=0;FS=3.916;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.804;SOR=1.751	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,843	5	0	1	0
chr1	47765943	47765945	TGG	-	exonic	TRABD2B	.	nonframeshift deletion	TRABD2B:NM_001194986:exon7:c.1511_1513del:p.T504del	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0011	0	0	0	0	0.0003	0	0.0016	0.0001358	21	154602	rs368316283	0.0003	0.0003	0.0003	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	6.326e-05	0	4.995e-05	0	0	0	0.0001	0.0003	0.0022	0.0001	0.0001	5.143e-05	0.0002	0.0027	7.09e-05	5.747e-05	0.0016	0.0013	0	0	0	0	0	0	0	5.884e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	494.79	36	chr1	47765942	.	ATGG	A	494.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.49;ReadPosRankSum=-1.371;SOR=0.941	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,959	5	0	1	0
chr1	52237497	52237497	T	C	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.T80C:p.V27A,ZFYVE9:NM_007324:exon4:c.T80C:p.V27A	.	441	1070	10	1	0	12	0.00557621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0022	0.0185703	0.0102	0.0008	0.0013	0.0312	0.0003	0.0033	0.0081	0.0461	0.0091655	1417	154602	rs41309181	0.0059	0.0059	0.0048	0.0069	0.0388	0.0058	0.0057	0.0377	0.0373	0.0006	0.0014	0.0011	0.0336	0.0004	0.0019	0.0031	0.0064	0.0388	0.0039	0.0039	0.0034	0.0045	0.0436	0.0037	0.0036	0.0388	0.0369	0.0008	0	0.0009	0.0017	0.0293	0	0	0.0026	0.0019	0.0436	0.099	0.30656	T	0.388	0.15602	T	0.002	0.11197	B	0.003	0.12133	B	0.034062	0.24817	N	0.279500	0.802651	0.29096	N	1.67	0.42885	L	1.0	0.42888	T	-1.23	0.31170	N	0.135	0.14054	-1.0461	0.15505	T	0.034	0.14683	T	10	0.0015945137	0.00018	T	.	.	.	0.022	0.04323	.	.	0.117191471859	0.11215	0.16088784943896667	0.16009	0.127045522355	0.14318	0.340613037348	0.16529	T	0.007779	0.07165	T	-0.5898	0.00168	T	-0.589997	0.13666	T	0.0138006016687131	0.00261	T	0.721628	0.34690	T	0.0861392	0.20009	0.11345984	0.27383	0.0861392	0.20009	0.11345984	0.27383	-3.842	0.22993	T	.	.	0.086	0.38227	B	.;.;.	.;.;.	2.646606	0.34451	19.63	0.99385756913505308	0.62113	0.83820	0.42915	D	AEFGBHCI	0.540365	0.55696	D	-0.0179780369878319	0.41043	2.447912	0.185387592604715	0.49044	3.112605	0.999999999988578	0.74766	0.50712	0.20391	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.77	5.77	0.91077	3.954000	0.56414	5.111000	0.47513	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0694:0.0:0.9306	11.976	0.52383	335	0.86220	.;.;.	.	.	.	.	rs41309181	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	1383.83	33	chr1	52237497	.	T	C	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.043;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	5	0	1	0
chr1	52357874	52357874	C	G	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon14:c.G1486C:p.V496L,CC2D1B:NM_032449:exon14:c.G1504C:p.V502L	.	405	1103	14	0	0	14	0.00630631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0022	0.0179712	0.0090	0.0008	0.0012	0.0306	0.0003	0.0034	0.0063	0.0485	0.0086609	1339	154602	rs76320728	0.0058	0.0059	0.0048	0.0068	0.0383	0.0057	0.0056	0.0372	0.0367	0.0006	0.0014	0.0011	0.0334	0.0004	0.0021	0.0031	0.0064	0.0383	0.0039	0.0039	0.0034	0.0045	0.0437	0.0036	0.0035	0.0389	0.0370	0.0008	0	0.0009	0.0017	0.0285	0	0	0.0026	0.0019	0.0437	0.451	0.10083	T	0.396	0.16425	T	0.001	0.07471	B	0.003	0.12133	B	0.691515	0.10171	N	0.862354	1	0.81001	D	1.625	0.41611	L	1.88	0.23884	T	-0.74	0.30346	N	0.237	0.26717	-1.0990	0.04214	T	0.017	0.06807	T	10	0.0022404194	0.00033	T	.	.	.	0.045	0.12272	0.128	0.03331	0.299770980665	0.29595	0.17482901126203462	0.17401	0.0278988715158	0.02864	0.533581197262	0.43540	T	0.004456	0.03857	T	-0.52691	0.00401	T	-0.498946	0.22457	T	0.00713622488867955	0.00081	T	0.521748	0.28920	T	0.03847287	0.05131	0.0529158	0.08811	0.03847287	0.05130	0.0529158	0.08810	-4.194	0.29421	T	.	.	0.095	0.19478	B	.;.	.;.	1.934552	0.24574	16.45	0.97520929957154756	0.34405	0.93193	0.57568	D	AEFDBCI	0.219895	0.34472	N	-0.298952073596878	0.29188	1.616482	-0.113732369924845	0.34835	2.00837	0.425103727706271	0.20324	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.43	0.52967	2.053000	0.40951	2.161000	0.30982	0.599000	0.40250	1.000000	0.71638	0.502000	0.25210	0.777000	0.36790	0.1937:0.8063:0.0:0.0	10.956	0.46573	355	0.85216	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	797.83	33	chr1	52357874	.	C	G	797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.704;DP=257;ExcessHet=0;FS=0.847;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.46;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	5	0	1	0
chr1	52385936	52385936	G	A	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon9:c.C1397T:p.T466M,ORC1:NM_001190819:exon9:c.C1382T:p.T461M,ORC1:NM_004153:exon9:c.C1397T:p.T466M	Meier-Gorlin syndrome 1, Autosomal recessive	0	1492	30	0	0	30	0.00995355	.	.	.	135302	Meier-Gorlin_syndrome_1|not_specified|not_provided	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0017	0.0371406	0.0238	0.0019	0.0956	0.1418	0.0003	0.0012	0.0173	0.0260	0.02097	3242	154602	rs3087481	0.0073	0.0073	0.0072	0.0075	0.0993	0.0072	0.0072	0.0967	0.0957	0.0012	0.0740	0.0031	0.0993	0.0003	0.0038	0.0006	0.0127	0.0224	0.0091	0.0091	0.0083	0.0100	0.1206	0.0087	0.0086	0.1128	0.1096	0.0020	0	0.0292	0.0035	0.1206	0.0003	0.0034	0.0009	0.0151	0.0261	0.016	0.51853	D	0.012	0.63918	D	0.945	0.53279	P	0.329	0.42046	B	0.063591	0.22014	N	0.533832	0.996943	0.43522	D	2.31	0.66127	M	0.7	0.51474	T	-2.45	0.53577	N	0.081	0.05670	-1.1688	0.00563	T	0.003	0.00929	T	10	0.0017303824	0.00022	T	.	.	.	0.154	0.40340	.	.	.	.	0.5080347100576171	0.50725	0.205181197166	0.22937	0.25866985321	0.04734	T	0.043092	0.26392	T	-0.570715	0.00219	T	-0.474437	0.25040	T	0.0213695901790923	0.00840	T	0.470553	0.13922	T	0.028158154	0.02112	0.070298396	0.14919	0.032757137	0.03362	0.07377268	0.16066	-7.673	0.58820	D	0.307441505087567	0.40517	0.074	0.05017	B	.;.	.;.	2.066432	0.26275	17.06	0.96521431116930512	0.30115	0.94283	0.60675	D	AEFBCI	0.223947	0.34824	N	-0.165939805209196	0.34558	1.974032	-0.279770497599646	0.28764	1.606388	0.0530868340151676	0.14927	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.3	2.43	0.28797	2.877000	0.48205	0.405000	0.18046	-0.677000	0.04263	0.891000	0.31220	0.014000	0.20376	0.165000	0.20815	0.2075:0.0:0.7925:0.0	10.680	0.45002	328	0.86572	.;.	.	.	.	.	rs3087481	Likely benign	0	0	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	0.007553	0.000000	0.006793	0.005882	0.000000	0.017241	0.015244	0.003788	0.08333	1109.83	35	chr1	52385936	.	G	A	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.17;DP=274;ExcessHet=0;FS=3.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.112;SOR=1.082	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	5	0	1	0
chr1	52978254	52978254	A	T	exonic	SCP2	.	nonsynonymous SNV	SCP2:NM_001007098:exon8:c.A580T:p.S194C,SCP2:NM_001193599:exon8:c.A640T:p.S214C,SCP2:NM_001193600:exon8:c.A580T:p.S194C,SCP2:NM_001193617:exon8:c.A469T:p.S157C,SCP2:NM_001330587:exon9:c.A712T:p.S238C,SCP2:NM_002979:exon9:c.A712T:p.S238C	Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive	15	1506	0	1	0	2	0.00066357	.	.	.	1505414	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.761	0.204615757379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170093685	9.578e-06	1.026e-05	5.446e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.813	0.45457	P	0.491	0.47360	P	0.000000	0.84330	D	0.038581	0.999999	0.58761	D	4.3	0.98261	H	-3.77	0.95595	D	-4.46	0.78636	D	0.669	0.67908	1.081	0.98913	D	0.925	0.97520	D	10	0.8488485	0.84057	D	0.204616	0.86940	D	0.761	0.91879	0.554	0.67133	0.98820149904	0.98807	0.8281905910068039	0.82777	1.13182881376	0.78647	0.457741856575	0.33001	T	0.976174	0.99770	D	0.369621	0.88012	D	0.293158	0.87859	D	0.998247981071472	0.93616	D	0.917608	0.70392	D	0.64814335	0.75264	0.454752	0.68297	0.64814335	0.75266	0.454752	0.68298	-11.834	0.87809	D	.	.	0.209	0.54718	B	.;.;.;.;.;.	.;.;.;.;.;.	4.017011	0.59304	24.1	0.98797815127998534	0.46397	0.98875	0.88021	D	AEFDBIJ	0.929706	0.91587	D	0.611536087908159	0.73903	6.042757	0.558027930121956	0.71958	5.734743	0.999985343630993	0.51787	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	8.165000	0.89615	7.831000	0.70117	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	1.0:0.0:0.0:0.0	14.848	0.69911	144	0.94257	Thiolase, N-terminal;.;.;.;.;Thiolase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	599.83	36	chr1	52978254	.	A	T	599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.512;DP=225;ExcessHet=0;FS=6.548;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.999;SOR=0.192	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1142	5	0	1	0
chr1	53594409	53594409	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.C494T:p.P165L,GLIS1:NM_001367484:exon4:c.C1019T:p.P340L	.	158	1351	11	2	0	15	0.00552079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.026124916413	0.0014	0.000798722	0.0015	0.0001	0.0004	0	0	0.0018	0.0050	0.0030	0.0013454	208	154602	rs36070063	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0040	0.0035	0.0003	0.0007	0.0023	2.521e-05	7.668e-05	0.0056	0.0014	0.0024	0.0026	0.0011	0.0011	0.0010	0.0013	0.0023	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0010	0.0026	0	0	0.0034	0.0017	0.0024	0.0023	0.118	0.28148	T	0.002	0.79402	D	0.996	0.68779	D	0.715	0.54683	P	0.000046	0.53742	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.6	0.13204	T	-5.34	0.84674	D	0.522	0.58031	-1.0974	0.04420	T	0.065	0.27017	T	10	0.020538062	0.00475	T	0.026125	0.49060	D	0.214	0.50650	.	.	0.606491963429	0.60334	0.5782930130756248	0.57758	0.357370273106	0.37457	0.651980757713	0.60267	T	0.456827	0.79544	T	-0.441919	0.01260	T	-0.4128	0.31902	T	0.070060948184942	0.08660	T	0.846115	0.52582	T	0.22651224	0.45334	0.27856404	0.53818	0.22651224	0.45334	0.27856404	0.53817	-5.836	0.44887	T	.	.	0.173	0.50352	B	.;.	.;.	4.463385	0.69484	25.4	0.99622888353280714	0.75533	0.98371	0.82097	D	AEFBHCI	0.842287	0.75941	D	0.557033247768843	0.70512	5.512282	0.562033460210662	0.72240	5.77848	0.999999999999994	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	5.845000	0.69157	6.705000	0.56383	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	17.001	0.86255	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.001362	0.005848	0.000000	0.000000	0.009146	0.000000	0.08333	1369.83	97	chr1	53594409	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.399;DP=339;ExcessHet=0;FS=5.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.196;SOR=0.343	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	5	0	1	0
chr1	53737989	53737989	C	G	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_001367484:exon2:c.G76C:p.G26R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-07	6.84e-07	0	1.964e-06	1.088e-06	0	0	.	.	0	0	0	0	0	0	1.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.46368	.	.	.	.	.	.	.	0.3152694	0.48960	T	.	.	.	.	.	.	.	0.659170725732	0.65631	.	.	.	.	.	.	.	.	.	.	-0.0755668	0.40434	T	-0.346323	0.39626	T	.	.	.	0.635836	0.24975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56468	A	.	.	3.985547	0.58615	24.0	0.86556927633866931	0.16616	0.64558	0.32446	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999986148642376	0.51787	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.166187	0.04126	0	0.454924	0.38710	4.13	2.24	0.27264	2.436000	0.44478	3.288000	0.37283	0.508000	0.23123	0.030000	0.20431	0.998000	0.33993	0.542000	0.29985	0.0:0.8072:0.0:0.1928	8.974	0.35087	492	0.76569	.	.	.	.	.	.	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	173.84	24	chr1	53737989	.	C	G	173.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.311;DP=95;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=1.02;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,10:21:99:184,0,259	5	0	1	0
chr1	54139645	54139645	-	GC	exonic	CDCP2	.	frameshift insertion	CDCP2:NM_201546:exon5:c.1224_1225insGC:p.M409Afs*2	.	548	301	299	84	290	757	0.436857	.	.	.	2812811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0055	0.0015	0.0036	0.0001	0	0.0091	0.0132	0.0016	0.0010373	27	26028	rs76608277	0.0037	0.0037	0.0037	0.0037	0.0127	0.0037	0.0036	0.0103	0.0095	0.0013	0.0030	0.0060	2.561e-05	0.0002	0.0127	0.0042	0.0041	0.0014	0.0052	0.0045	0.0058	0.0046	0.0083	0.0048	0.0047	0.0076	0.0073	0.0016	0.0559	0.0066	0.0113	0.0002	0.0004	0.0105	0.0083	0.0043	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9147.08	109	chr1	54139645	.	T	TGC	9147.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=474;ExcessHet=1.383;FS=2.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=1.04;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,47:78:99:.:.:3011,838,719:.	5	0	1	0
chr1	54616167	54616167	T	C	exonic	FAM151A	.	nonsynonymous SNV	FAM151A:NM_176782:exon3:c.A268G:p.I90V	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00328949506701	0.0004	0.000399361	0.0005	0.0002	0.0002	0	0	0.0008	0	0.0003	0.0004916	76	154602	rs201533192	0.0004	0.0004	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0003	0.0003	0.0049	0	3.745e-05	0.0033	0.0003	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	0.0001	0	0.0003	0.0058	0	0	0	0.0005	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.323517	0.04088	N	1.563150	0.973869	0.25523	N	0.09	0.08384	N	1.67	0.27331	T	0.64	0.02898	N	0.043	0.04547	-1.0440	0.16118	T	0.030	0.12804	T	10	0.0046162903	0.00096	T	0.003289	0.07298	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.14163869746615446	0.14086	0.0630273627958	0.07016	0.244239211082	0.03185	T	6.39E-4	0.00271	T	-0.659959	0.00063	T	-0.829384	0.01273	T	0.00197227359238582	0.00020	T	0.191181	0.03286	T	0.023069086	0.01016	0.02332343	0.00346	0.023069086	0.01016	0.02332343	0.00346	-1.687	0.02195	T	.	.	0.062	0.01233	B	.;.	.;.	-1.785996	0.00162	0.002	0.50290723093388523	0.04358	0.01618	0.05231	N	AEFDBHCI	0.036205	0.04786	N	-1.62459338655568	0.01147	0.049826	-1.66773881427889	0.01287	0.05804186	0.999696233186799	0.41870	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.95	-3.93	0.03868	-0.730000	0.05019	-6.487000	0.01385	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1325:0.3186:0.1301:0.4188	1.761	0.02812	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	771.83	36	chr1	54616167	.	T	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.399;SOR=0.802	GT:AD:DP:GQ:PL	0/1:27,34:61:99:782,0,563	5	0	1	0
chr1	54700342	54700342	C	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.C1540T:p.R514C,MROH7:NM_001039464:exon18:c.C2986T:p.R996C	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0230320514409	0.0016	0.00179712	0.0024	0.0005	0.0058	0.0001	0.0005	0.0018	0.0058	0.0057	0.0020569	318	154602	rs139827199	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0045	0.0044	0.0004	0.0027	0.0009	2.519e-05	0.0004	0.0038	0.0016	0.0015	0.0049	0.0012	0.0012	0.0014	0.0011	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0010	0.0003	0.0002	0.0003	0.0034	0.0018	0.0024	0.0041	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.997959	0.49512	D	2.16	0.60381	M	4.72	0.02121	T	-3.93	0.73267	D	0.683	0.69913	-1.0772	0.07901	T	0.085	0.33014	T	10	0.013888657	0.00293	T	0.023032	0.45967	T	0.160	0.41473	.	.	0.186928172975	0.18263	0.21068615473690672	0.20984	0.473772204967	0.46581	0.597358465195	0.52532	T	0.132132	0.46203	T	-0.38034	0.03101	T	-0.318018	0.42791	T	0.0268653159448051	0.01525	T	0.876412	0.58869	D	0.20939183	0.43205	0.21668613	0.46305	0.20939183	0.43205	0.21668613	0.46304	-6.247	0.48301	T	.	.	0.332	0.55390	B	.;.	.;.	4.189719	0.63134	24.5	0.9992411981508893	0.98980	0.45925	0.27646	N	AEFBI	0.116902	0.22923	N	0.392515429573369	0.61017	4.297238	0.309431187916425	0.56094	3.77228	8.28159807578539E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	3.47	0.38831	1.035000	0.29824	0.394000	0.17923	0.599000	0.40250	0.954000	0.33273	0.065000	0.22112	0.993000	0.69303	0.3821:0.6179:0.0:0.0	10.283	0.42730	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.007576	0.08333	992.83	35	chr1	54700342	.	C	T	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=260;ExcessHet=0;FS=0.856;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.165;SOR=0.862	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	5	0	1	0
chr1	56511976	56511976	T	C	exonic	PLPP3	.	nonsynonymous SNV	PLPP3:NM_003713:exon5:c.A810G:p.I270M	.	427	1094	1	0	0	1	0.00045683	0.0507	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0696274306782	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759898320	5.475e-06	5.472e-06	4.085e-06	6.878e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.031	0.53788	D	0.146	0.27821	B	0.369	0.43514	B	0.000507	0.43753	D	0.256920	0.999999	0.58761	D	.	.	.	-0.95	0.75438	T	-1.48	0.36189	N	0.474	0.50958	-0.7432	0.58288	T	0.294	0.66564	T	9	0.26385334	0.43867	T	0.069627	0.70782	D	0.321	0.64318	0.425	0.47021	0.494013581214	0.49034	0.5672986322911534	0.56657	1.47327362475	0.86575	0.534450471401	0.43660	T	0.588503	0.86633	D	-0.123209	0.32599	T	-0.211158	0.53585	T	0.413005832332737	0.29430	T	0.820318	0.47908	T	0.102521986	0.24226	0.14456643	0.34317	0.102521986	0.24226	0.14456643	0.34317	-6.481	0.50140	T	.	.	0.214	0.44332	B	.	.	2.708843	0.35399	19.89	0.99685513712955909	0.79574	0.88553	0.48534	D	AEFBI	0.487032	0.52595	N	-0.0493787954628986	0.39629	2.340165	0.0667689791203222	0.42890	2.602256	0.998499665981663	0.37071	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	3.61	0.40494	1.609000	0.36469	2.320000	0.32129	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.1605:0.1297:0.0:0.7098	4.563	0.11565	830	0.39242	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2249.83	34	chr1	56511976	.	T	C	2249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.847;DP=338;ExcessHet=0;FS=0.586;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.884;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	5	0	1	0
chr1	56940892	56940892	C	T	exonic	C8B	.	stopgain	C8B:NM_000066:exon9:c.G1355A:p.W452X,C8B:NM_001278543:exon10:c.G1199A:p.W400X,C8B:NM_001278544:exon10:c.G1169A:p.W390X	C8 deficiency, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1351333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200077558	1.3e-05	1.3e-05	1.225e-05	1.375e-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	1.315e-05	1.313e-05	1.285e-05	1.347e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.702	0.71587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.750943	0.99279	43	0.99731189590051472	0.82761	0.98924	0.88695	D	AEFI	0.105271	0.21038	N	0.900365014889063	0.91778	11.059	0.779733292651363	0.88349	9.549396	0.999999955263291	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.517000	0.66777	4.594000	0.43970	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93730	867	0.32089	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	888.83	37	chr1	56940892	.	C	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.14;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	5	0	1	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V,USP1:NM_001017416:exon9:c.A1996G:p.I666V,USP1:NM_003368:exon9:c.A1996G:p.I666V	.	427	1043	51	1	0	53	0.0247779	.	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease 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	0.021148	0.005051	0.025815	0.052632	0.050000	0.034483	0.012195	0.003788	0.1667	2954.04	38	chr1	62450619	.	A	G	2954.04	.	AC=2;AF=0.167;AN=12;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.57;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	5	1	0	0
chr1	63774497	63774497	C	T	exonic	ROR1	.	nonsynonymous SNV	ROR1:NM_001083592:exon1:c.C80T:p.A27V,ROR1:NM_005012:exon1:c.C80T:p.A27V	.	453	1067	2	0	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.261852067378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.036e-06	2.668e-05	5.772e-06	4.227e-06	0.0002	1.48e-06	1.07e-06	6.443e-05	3.889e-05	0	0	0	0	0	0	0	2.722e-05	0.0002	6.707e-06	6.596e-06	0	1.377e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.412	0.10083	T	0.11	0.37310	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	0.994847	0.23430	N	0	0.06538	N	-0.04	0.75001	T	0.04	0.06739	N	0.114	0.12484	-1.0546	0.13145	T	0.076	0.30397	T	9	0.08227098	0.13560	T	0.261852	0.89539	D	0.046	0.12618	0.306	0.27646	0.316310170894	0.31242	0.30280014981783815	0.30193	0.426954359613	0.43058	0.795159220695	0.81227	T	0.082402	0.36820	T	-0.113817	0.34139	T	-0.401266	0.33236	T	0.250988185405731	0.22917	T	0.505949	0.16663	T	0.06827837	0.14862	0.064239234	0.12844	0.06827837	0.14862	0.064239234	0.12843	-5.349	0.41207	T	.	.	0.164	0.36214	B	.;.	.;.	2.224631	0.28394	17.78	0.99450465349787021	0.65274	0.40875	0.26533	N	AEFDBCIJ	0.062689	0.12068	N	-0.562565340390196	0.20091	1.056599	-0.380026082713549	0.25592	1.408392	0.999999774907397	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.2	3.27	0.36580	0.260000	0.18192	1.172000	0.24632	0.442000	0.21104	0.995000	0.38783	0.760000	0.26617	0.895000	0.43227	0.0:0.8868:0.0:0.1132	8.562	0.32677	891	0.26808	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	162.73	13	chr1	63774497	.	C	T	162.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.073;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.633;SOR=0.495	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,79	5	0	1	0
chr1	64673166	64673166	T	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_001293274:exon17:c.T1631C:p.I544T,CACHD1:NM_020925:exon18:c.T2519C:p.I840T	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	.	.	0.00259585	0.0011	0.0002	0.0002	0	0	0.0002	0.0011	0.0071	0.001022	158	154602	rs554868581	0.0006	0.0006	0.0003	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	5.978e-05	6.708e-05	0	2.519e-05	0	0.0017	8.724e-05	0.0006	0.0077	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0067	0.0060	2.438e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0089	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.54	0.30133	T	-3.66	0.70067	D	0.965	0.97535	-0.9659	0.38033	T	0.118	0.41473	T	10	0.011742651	0.00255	T	.	.	.	0.605	0.84452	.	.	0.386522206555	0.38262	0.8364693926502832	0.83606	0.660444123774	0.58870	0.890380740166	0.95307	D	.	.	.	-0.0883598	0.38348	T	0.105428	0.77268	D	0.0737399200489912	0.09167	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.89681	P	.;.	.;.	4.690585	0.75159	26.3	0.99847436902836806	0.92750	0.97863	0.77695	D	AEFBI	0.841213	0.75842	D	0.721523553504972	0.81043	7.430808	0.732699645171508	0.84861	8.411538	0.999997010215579	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	7.565000	0.81337	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.059	0.80632	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.08333	818.83	44	chr1	64673166	.	T	C	818.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=250;ExcessHet=0;FS=2.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.986;SOR=0.399	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr1	65596511	65596511	C	T	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon6:c.C767T:p.S256F,LEPR:NM_001198688:exon6:c.C767T:p.S256F,LEPR:NM_001198689:exon6:c.C767T:p.S256F,LEPR:NM_001003679:exon7:c.C767T:p.S256F,LEPR:NM_001003680:exon7:c.C767T:p.S256F,LEPR:NM_002303:exon7:c.C767T:p.S256F	Obesity, morbid, due to leptin receptor deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0245852610272	.	.	8.301e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs761468512	6.846e-07	6.84e-07	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.30097	T	0.153	0.32783	T	0.686	0.41548	P	0.26	0.39460	B	0.004179	0.34034	N	0.333921	0.989729	0.81001	D	2.85	0.82803	M	0.35	0.58029	T	-2.07	0.47344	N	0.47	0.56145	-0.8846	0.49390	T	0.108	0.39295	T	10	0.51285356	0.62198	D	0.024585	0.47577	T	0.233	0.53499	0.583	0.70990	0.817944786137	0.81623	0.44141066566068343	0.44058	0.204006883498	0.22813	0.477008908987	0.35645	T	0.247229	0.61683	T	0.129404	0.67302	D	-0.0518965	0.66893	D	0.601150453090668	0.36446	D	0.865513	0.59649	D	0.12119071	0.28504	0.13115053	0.31498	0.12119071	0.28503	0.13115053	0.31497	-7.066	0.54631	T	0.6227416462637241	0.69128	0.143	0.31381	B	.;.;.;.;.;.	.;.;.;.;.;.	3.385483	0.46848	22.4	0.95077099875205917	0.26123	0.71544	0.35059	D	AEFBI	0.401891	0.47619	N	0.126591049945753	0.47705	2.992563	0.195990004238428	0.49625	3.163603	0.00339399510987734	0.10093	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	2.016000	0.40591	2.716000	0.34274	0.545000	0.25583	0.999000	0.42656	0.997000	0.33255	0.542000	0.29985	0.0:0.7671:0.1552:0.0777	9.525	0.38322	900	0.24599	.;.;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	.	.	.	.	.	.	.	.	0.08333	1029.83	35	chr1	65596511	.	C	T	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.339;DP=279;ExcessHet=0;FS=1.634;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.119;SOR=0.522	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	5	0	1	0
chr1	65616108	65616108	C	T	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon14:c.C2096T:p.T699M,LEPR:NM_001198688:exon14:c.C2096T:p.T699M,LEPR:NM_001198689:exon14:c.C2096T:p.T699M,LEPR:NM_001003679:exon15:c.C2096T:p.T699M,LEPR:NM_001003680:exon15:c.C2096T:p.T699M,LEPR:NM_002303:exon15:c.C2096T:p.T699M	Obesity, morbid, due to leptin receptor deficiency	1	1520	1	0	0	1	0.000328839	.	.	.	380185	Monogenic_diabetes|not_provided|not_specified|Obesity_due_to_leptin_receptor_gene_deficiency	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013992,MedGen:C3554225,OMIM:614963,Orphanet:179494	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0128	0.00978435	0.0032	0.0353	0.0012	0	0	7.494e-05	0	0.0001	0.0030077	465	154602	rs34499590	0.0009	0.0009	0.0011	0.0008	0.0333	0.0009	0.0009	0.0317	0.0310	0.0333	0.0014	0	2.519e-05	0	0.0014	3.867e-05	0.0019	4.637e-05	0.0096	0.0096	0.0098	0.0094	0.0338	0.0092	0.0090	0.0323	0.0317	0.0338	0	0.0029	0	0	0	0	4.41e-05	0.0057	0	0.003	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000036	0.55875	D	0.149278	0.999932	0.81001	D	2.93	0.84523	M	0.58	0.54149	T	-3.06	0.65972	D	0.855	0.90025	-0.4113	0.71669	T	0.309	0.67913	T	10	0.0063533783	0.00143	T	.	.	.	0.270	0.58507	.	.	0.66202510706	0.65918	0.6090357320611688	0.60835	0.538619484499	0.51112	0.523927569389	0.42179	T	0.749181	0.93113	D	-0.34528	0.05031	T	-0.242288	0.50574	T	0.0270472370336921	0.01550	T	0.937806	0.76632	D	0.3075607	0.53574	0.3189415	0.57858	0.30354962	0.53221	0.287328	0.54744	-7.99	0.61485	D	0.8223902715363676	0.89511	0.130	0.30686	B	.;.;.;.;.;.	.;.;.;.;.;.	4.529489	0.71095	25.6	0.99808426088071867	0.89264	0.83209	0.42345	D	ALL	0.802603	0.72798	D	0.513716925950172	0.67901	5.143863	0.385263781785833	0.60654	4.255576	0.999999999873774	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.704051	0.69138	0	.	.	5.26	5.26	0.73479	5.521000	0.66800	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.119000	0.19126	0.0:1.0:0.0:0.0	18.853	0.92209	872	0.31118	.;.;Fibronectin type III;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1689.83	34	chr1	65616108	.	C	T	1689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=2.27;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	5	0	1	0
chr1	67093358	67093358	T	C	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276351:exon8:c.A850G:p.M284V	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00107568892589	0.0020	.	0.0019	0.0007	0.0003	0	0.0011	0.0031	0.0011	0.0005	0.0020375	315	154602	rs142887352	0.0031	0.0031	0.0033	0.0029	0.0038	0.0030	0.0030	0.0037	0.0036	0.0007	0.0004	7.656e-05	2.522e-05	0.0016	0.0005	0.0038	0.0024	0.0004	0.0020	0.0020	0.0021	0.0019	0.0037	0.0018	0.0017	0.0033	0.0031	0.0007	0.0055	0.0008	0	0	0.0008	0	0.0037	0.0014	0	0.547	0.06648	T	0.286	0.21277	T	0.002	0.09854	B	0.002	0.06944	B	0.122267	0.02736	N	1.790730	1	0.08975	N	0.345	0.11182	N	1.69	0.27032	T	-0.19	0.09965	N	0.163	0.17278	-1.0059	0.28186	T	0.010	0.03856	T	9	0.0075131357	0.00171	T	0.001076	0.01239	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.014219254093019978	0.01378	0.0368298656317	0.03901	.	.	.	0.001381	0.00849	T	-0.581228	0.00189	T	-0.60946	0.12029	T	0.000513690383602129	0.00004	T	0.320768	0.06490	T	0.043527372	0.06798	0.073439784	0.15960	0.043527372	0.06798	0.073439784	0.15959	-2.124	0.03688	T	.	.	0.064	0.01934	B	.;.	.;.	-1.335615	0.00409	0.008	0.29263528077271689	0.01543	0.02116	0.06258	N	AEFBI	0.040455	0.06020	N	-1.32128036933849	0.03432	0.153303	-1.40387554005665	0.03213	0.1494155	0.0145373929433582	0.12608	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	0.235	0.235	0.14697	-0.635000	0.05568	-4.887000	0.01941	-2.596000	0.00236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	583	0.69484	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1352.83	39	chr1	67093358	.	T	C	1352.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=313;ExcessHet=0;FS=4.47;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.762;SOR=0.9	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1363,0,1658	5	0	1	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	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	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.1667	2291.06	34	chr1	69994621	.	A	G	2291.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.64;DP=313;ExcessHet=0.4139;FS=2.728;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.62;SOR=0.492	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	4	0	2	0
chr1	72282401	72282401	G	C	exonic	NEGR1	.	nonsynonymous SNV	NEGR1:NM_173808:exon1:c.C94G:p.L32V	.	396	1122	4	0	0	4	0.00177936	.	.	.	719069	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0059	0.00219649	0.0070	0.0013	0.0034	0	0.0077	0.0111	0.0033	6.056e-05	0.0067852	1049	154602	rs142674139	0.0081	0.0081	0.0084	0.0078	0.0096	0.0080	0.0080	0.0094	0.0093	0.0012	0.0034	0.0090	0	0.0067	0.0007	0.0096	0.0075	4.637e-05	0.0060	0.0060	0.0062	0.0058	0.0094	0.0057	0.0056	0.0088	0.0086	0.0016	0.0011	0.0056	0.0110	0	0.0060	0	0.0094	0.0081	0.0004	0.523	0.07187	T	0.643	0.06903	T	0.0	0.02946	B	0.001	0.04355	B	0.000092	0.51296	D	0.076675	0.886928	0.35868	D	0	0.06538	N	0.72	0.50976	T	0.02	0.06739	N	0.134	0.13055	-1.0067	0.27943	T	0.097	0.36341	T	10	0.0052229166	0.00114	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.5704792730370059	0.56975	0.42636690805	0.43014	0.651688337326	0.60225	T	0.029	0.20732	T	-0.467292	0.00884	T	-0.436048	0.29251	T	0.0269341953036603	0.01535	T	0.777122	0.41012	T	0.15724838	0.35443	0.09689135	0.23042	0.15724838	0.35442	0.09689135	0.23041	-3.873	0.21898	T	.	.	0.081	0.08417	B	.	.	3.118929	0.42097	21.5	0.95430367588307052	0.26922	0.82123	0.41400	D	AEFDBHCI	0.718253	0.66951	D	-0.215174593125788	0.32510	1.834254	0.0184616864487738	0.40572	2.423506	0.999999998619901	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.56214	0.19341	0	.	.	5.25	5.25	0.73169	3.572000	0.53593	8.410000	0.77125	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.329	0.82830	898	0.25240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	602.83	36	chr1	72282401	.	G	C	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.086;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	5	0	1	0
chr1	74471799	74471799	C	G	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.G1727C:p.S576T,LRRC53:NM_001382280:exon5:c.G1823C:p.S608T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139464246671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.63	0.53088	T	.	.	.	0.221	0.24758	.	.	.	.	.	.	.	0.107166946	0.19893	T	0.013946	0.33731	T	.	.	.	.	0.499535901811	0.49588	9.041923518263546E-4	0.00083	.	.	.	.	.	0.001552	0.00995	T	-0.314957	0.07318	T	-0.69019	0.06378	T	.	.	.	0.306369	0.05889	T	0.033310097	0.03523	0.107358806	0.25844	0.033310097	0.03523	0.107358806	0.25843	-4.022	0.24132	T	.	.	0.085	0.10304	B	.	.	1.258816	0.16566	12.62	0.56817624096389596	0.05634	0.16652	0.19487	N	AEFHI	0.082861	0.16782	N	.	.	.	.	.	.	2.665299846439E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	-0.921	0.09939	0.564000	0.23265	0.342000	0.17391	-0.257000	0.07002	0.218000	0.24513	0.001000	0.17328	0.699000	0.34110	0.0:0.3979:0.1308:0.4713	6.009	0.18794	811	0.42639	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1702.83	74	chr1	74471799	.	C	G	1702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.676;DP=571;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.881;SOR=0.712	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	5	0	1	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H,LRRC53:NM_001382280:exon4:c.T1133A:p.L378H	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	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	.	.	.	.	.	.	.	.	0.08333	2436.83	186	chr1	74475582	.	A	T	2436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.025;DP=929;ExcessHet=0;FS=1.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-2.275;SOR=0.846	GT:AD:DP:GQ:PL	0/1:100,97:197:99:2447,0,2433	5	0	1	0
chr1	74590065	74590065	G	A	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon12:c.C1742T:p.S581L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0031	0.00638978	0.0016	0.0158	0.0007	0	0	2.152e-05	0.0015	7.379e-05	0.001229	190	154602	rs115339919	0.0004	0.0004	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0008	0	0	0	0.0007	1.538e-05	0.0009	3.525e-05	0.0037	0.0038	0.0040	0.0035	0.0130	0.0035	0.0034	0.0121	0.0117	0.0130	0	0.0015	0	0	0	0	2.94e-05	0.0024	0	0.002	0.72154	D	0.065	0.44702	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.75	0.80375	M	2.43	0.20808	T	-3.63	0.70793	D	0.157	0.16308	-1.1011	0.03961	T	0.053	0.22307	T	9	0.0076974034	0.00175	T	.	.	.	0.038	0.09825	.	.	0.230578612272	0.22657	0.0629350459138683	0.06232	0.102474208625	0.11596	.	.	.	0.081349	0.36575	T	-0.531235	0.00378	T	-0.524182	0.19872	T	0.0725769017618088	0.09008	T	0.775222	0.40690	T	0.10954011	0.25898	0.20154718	0.44140	0.10954011	0.25897	0.20154718	0.44139	-7.388	0.56820	T	.	.	0.104	0.18663	B	.;.	.;.	2.962187	0.39448	21.0	0.99491904595162206	0.67516	0.12116	0.17069	N	AEFI	0.126726	0.24379	N	-0.102349312522256	0.37290	2.167407	-0.306980234908526	0.27873	1.549777	2.31096319222778E-5	0.03498	0.594549	0.33734	0	0.486142	0.07564	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	2.21	0.27042	1.093000	0.30550	5.815000	0.50038	0.665000	0.62972	0.166000	0.23880	1.000000	0.68203	0.003000	0.05239	0.2835:0.0:0.7165:0.0	7.38	0.26023	712	0.56465	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	410.83	25	chr1	74590065	.	G	A	410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.047;DP=158;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.826;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	5	0	1	0
chr1	74707102	74707102	C	T	splicing	CRYZ	NM_001889:exon7:c.732+1G>A;NM_001134759:exon5:c.321+1G>A;NM_001130042:exon8:c.732+1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	743764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0020	0.00219649	0.0005	0.0056	8.676e-05	0	0	0	0.0011	0	0.0004592	71	154602	rs6668086	0.0002	0.0002	0.0002	0.0001	0.0059	0.0001	0.0001	0.0052	0.0050	0.0059	0.0001	0	0	0	0.0002	1.862e-06	0.0004	1.255e-05	0.0015	0.0015	0.0016	0.0013	0.0052	0.0013	0.0013	0.0046	0.0044	0.0052	0	0.0003	0	0	0	0	1.474e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0441921	0.57593	T	0.292069	0.87799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.358362	0.66997	25.0	0.99162374070707848	0.54127	0.98389	0.82278	D	AEFBI	.	.	.	1.06834323673245	0.97503	16.23891	0.890585297241738	0.95150	13.355	0.999999999570941	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.183335	0.04453	0	0.24341	0.04801	0	0.983124	0.89729	5.54	5.54	0.82907	4.187000	0.58142	5.907000	0.50968	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	19.438	0.94793	673	0.60677	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	868.83	56	chr1	74707102	.	C	T	868.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.997;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.025;SOR=0.772	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr1	75137116	75137116	C	T	exonic	LHX8	.	nonsynonymous SNV	LHX8:NM_001256114:exon3:c.C92T:p.A31V,LHX8:NM_001001933:exon4:c.C122T:p.A41V	.	407	1112	2	1	0	4	0.00179533	.	.	.	707511	not_provided|LHX8-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0099	0.00778754	0.0027	0.0326	0.0015	0	0	8.141e-05	0.0037	6.651e-05	0.0024838	384	154602	rs141641179	0.0009	0.0009	0.0011	0.0007	0.0321	0.0009	0.0009	0.0305	0.0299	0.0321	0.0018	0	0	0	0.0016	2.89e-05	0.0021	8.139e-05	0.0094	0.0094	0.0097	0.0090	0.0323	0.0090	0.0088	0.0308	0.0302	0.0323	0	0.0034	0	0	0	0	0.0001	0.0114	0	0.062	0.38185	T	0.324	0.18903	T	0.008	0.14655	B	0.002	0.06944	B	0.023213	0.26485	N	0.385467	0.996455	0.43214	D	0.345	0.11182	N	-2.12	0.86283	D	-0.6	0.18877	N	0.137	0.14338	-0.5433	0.67039	T	0.300	0.67166	T	10	0.0037474036	0.00070	T	.	.	.	0.200	0.48430	.	.	0.412688821616	0.40882	0.34990298168510253	0.34904	0.472962302528	0.46531	0.581998169422	0.50367	T	0.075012	0.35076	T	-0.412836	0.01903	T	-0.341412	0.40184	T	0.0182681683297782	0.00546	T	0.70393	0.31399	T	0.1888775	0.40406	0.22278383	0.47134	0.1888775	0.40405	0.22278383	0.47133	-4.507	0.32879	T	.	.	0.074	0.05188	B	.;.	.;.	2.896003	0.38372	20.7	0.99739241785273314	0.83337	0.83438	0.42555	D	AEFDBHCI	0.349293	0.44313	N	-0.232984612980834	0.31788	1.785977	-0.047994614641555	0.37578	2.202077	0.999999543180782	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.32	4.39	0.52211	1.312000	0.33179	4.819000	0.45103	0.524000	0.24156	0.135000	0.23427	1.000000	0.68203	0.997000	0.79791	0.0:0.9206:0.0:0.0794	13.171	0.59021	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002520	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.003817	0.08333	743.83	34	chr1	75137116	.	C	T	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.719;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=0.623;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	5	0	1	0
chr1	77929446	77929446	A	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon8:c.A803C:p.E268A,NEXN:NM_144573:exon9:c.A995C:p.E332A	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	5	1463	52	2	0	56	0.0187793	.	.	.	57079	Premature_ventricular_contraction|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Hypertrophic_cardiomyopathy_20|not_provided|not_specified|Cardiovascular_phenotype|Cardiomyopathy	Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0013147,MedGen:C2751084,OMIM:613122,Orphanet:154|MONDO:MONDO:0013477,MedGen:C3151267,OMIM:613876|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.157	.	0.0020	0.00319489	0.0040	0.0013	0.0015	0.0002	0.0071	0.0028	0.0078	0.0125	0.0036222	560	154602	rs201763096	0.0034	0.0034	0.0031	0.0037	0.0129	0.0033	0.0033	0.0123	0.0120	0.0008	0.0016	0.0028	0.0002	0.0056	0.0083	0.0028	0.0036	0.0129	0.0029	0.0029	0.0026	0.0032	0.0128	0.0027	0.0026	0.0103	0.0094	0.0009	0	0.0027	0.0029	0	0.0069	0.0136	0.0031	0.0028	0.0128	0.027	0.49613	D	0.01	0.65728	D	0.0	0.02946	B	0.001	0.04355	B	0.114418	0.19276	N	0.422095	0.999971	0.54805	D	3.075	0.87202	M	-0.37	0.68892	T	-3.02	0.62630	D	0.224	0.26957	-0.4392	0.70757	T	0.303	0.67446	T	10	0.00764665	0.00174	T	.	.	.	0.157	0.40909	.	.	0.859195409393	0.85783	0.11596895215620386	0.11524	0.0493437229553	0.05403	0.471635967493	0.34905	T	0.248366	0.61815	T	-0.362971	0.03965	T	-0.283128	0.46483	T	0.0680656326731404	0.08377	T	0.815918	0.52185	T	0.14080186	0.32471	0.11652214	0.28130	0.15044011	0.34247	0.14946486	0.35288	-6.948	0.53654	T	0.4055947127188136	0.49674	0.113	0.28464	B	.;.;.;.	.;.;.;.	2.750252	0.36045	20.1	0.99232986696001357	0.56278	0.93487	0.58350	D	AEFBI	0.476695	0.52000	N	0.323113173520435	0.57338	3.90062	0.349179188233158	0.58457	4.016375	0.999999650999292	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.723	0.93126	0	.	.	4.98	4.98	0.65679	4.103000	0.57517	3.999000	0.41057	-0.093000	0.16093	1.000000	0.71638	0.997000	0.33255	0.845000	0.39915	1.0:0.0:0.0:0.0	13.199	0.59182	729	0.54495	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005705	0.005051	0.005435	0.007042	0.000000	0.000000	0.006098	0.011364	0.1667	3831.06	36	chr1	77929446	.	A	C	3831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=452;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.741;SOR=0.667	GT:AD:DP:GQ:PL	0/1:75,52:127:99:1339,0,1849	4	0	2	0
chr1	78650467	78650467	A	T	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon2:c.A272T:p.K91I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00269518398719	.	.	8.248e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs766905483	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0003	2.9e-06	2.1e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	6.624e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.21144	T	0.163	0.31125	T	0.64	0.40395	P	0.245	0.38823	B	0.335149	0.04154	N	1.460970	1	0.08975	N	1.59	0.40313	L	3.08	0.08460	T	-1.49	0.36385	N	0.239	0.26957	-0.9583	0.39497	T	0.005	0.01833	T	10	0.12330383	0.23405	T	0.002695	0.05521	T	0.038	0.09825	0.497	0.58678	0.290590437066	0.28656	0.37665674151490136	0.37579	0.0164037096902	0.01580	0.274735867977	0.06769	T	0.060245	0.31333	T	-0.268509	0.11924	T	-0.623471	0.10915	T	0.0868102833628654	0.10836	T	0.365963	0.08520	T	0.09800298	0.23109	0.051908627	0.08447	0.09800298	0.23109	0.051908627	0.08446	-4.779	0.34345	T	.	.	0.202	0.42650	B	.	.	0.863208	0.12354	8.895	0.89001380245015072	0.18429	0.06323	0.12319	N	AEFDGBCI	0.053238	0.09575	N	-0.794250917708757	0.13459	0.6631716	-0.920361417890202	0.11614	0.592765	0.999908933597722	0.45458	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	3.27	0.789	0.17750	0.557000	0.23159	0.846000	0.22090	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5379:0.2462:0.0:0.2159	3.592	0.07540	594	0.68584	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1389.83	33	chr1	78650467	.	A	T	1389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.465;DP=294;ExcessHet=0;FS=0.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.59;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	5	0	1	0
chr1	81943154	81943154	A	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_001297705:exon5:c.A583G:p.S195G,ADGRL2:NM_001297706:exon5:c.A583G:p.S195G,ADGRL2:NM_001330645:exon5:c.A583G:p.S195G,ADGRL2:NM_001350699:exon5:c.A583G:p.S195G,ADGRL2:NM_001366009:exon5:c.A583G:p.S195G,ADGRL2:NM_012302:exon5:c.A583G:p.S195G,ADGRL2:NM_001297704:exon6:c.A583G:p.S195G,ADGRL2:NM_001350698:exon6:c.A595G:p.S199G,ADGRL2:NM_001366002:exon6:c.A583G:p.S195G,ADGRL2:NM_001366005:exon6:c.A595G:p.S199G,ADGRL2:NM_001366006:exon6:c.A595G:p.S199G,ADGRL2:NM_001366007:exon6:c.A595G:p.S199G,ADGRL2:NM_001366008:exon9:c.A595G:p.S199G,ADGRL2:NM_001366003:exon11:c.A595G:p.S199G,ADGRL2:NM_001366004:exon11:c.A595G:p.S199G	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0161847713272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000125	0.49741	D	0.178663	0.824014	0.34818	D	.	.	.	-2.39	0.88377	D	1.33	0.00936	N	0.177	0.22357	-0.8688	0.50619	T	0.118	0.41385	T	10	0.085921854	0.14554	T	0.016185	0.37323	T	0.244	0.55061	0.369	0.37850	0.110392049598	0.10638	0.7411071961284224	0.74056	0.639625809269	0.57622	0.659765481949	0.61376	T	0.221054	0.68515	T	-0.0430209	0.45500	T	-0.299573	0.44769	T	0.833146810531616	0.48776	D	0.878012	0.59262	D	0.061853215	0.12856	0.061190788	0.11776	0.061853215	0.12855	0.061190788	0.11775	-2.413	0.06139	T	.	.	0.056	0.01179	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.866185	0.37883	20.6	0.28635036703791977	0.01480	0.78705	0.38871	D	AEFBI	0.227283	0.35111	N	-0.462554681930954	0.23315	1.251235	-0.138169821425411	0.33867	1.941849	0.985778308761653	0.30946	0.706298	0.61202	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.9	5.9	0.94952	4.184000	0.58121	11.314000	0.92500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8106:0.0:0.1894:0.0	6.299	0.20311	950	0.11238	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.;.;.;.;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1195.83	35	chr1	81943154	.	A	G	1195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.468;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.61;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	5	0	1	0
chr1	84408479	84408479	A	T	exonic	DNASE2B	.	stopgain	DNASE2B:NM_021233:exon3:c.A346T:p.K116X	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0009	0.0001	0	0	0.0043	0.0011	0.0025	0	0.0007374	114	154602	rs200167839	0.0007	0.0007	0.0006	0.0007	0.0005	0.0006	0.0006	0.0005	0.0005	5.993e-05	4.498e-05	0	0	0.0063	0	0.0005	0.0005	6.986e-05	0.0011	0.0011	0.0010	0.0012	0.0015	0.0009	0.0009	0.0012	0.0011	2.406e-05	0	0	0	0	0.0059	0	0.0015	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.065751	0.02192	N	1.816730	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0323639	0.56037	T	0.272239	0.86698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.100594	0.94561	34	0.99124151878230504	0.53063	0.06930	0.12956	N	AEFBI	0.078892	0.15925	N	0.0779747374515968	0.45437	2.800211	-0.224260320763264	0.30669	1.728801	6.71144635384783E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.48	-0.528	0.11310	0.007000	0.13074	3.144000	0.36496	0.688000	0.82842	0.000000	0.06391	0.017000	0.20586	0.884000	0.42379	0.3484:0.2256:0.307:0.119	1.651	0.02604	513	0.74941	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	772.83	37	chr1	84408479	.	A	T	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=246;ExcessHet=0;FS=4.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.753;SOR=1.058	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1084	5	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	61.07	61	chr1	85158755	.	A	G	61.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.192;DP=351;ExcessHet=0.4139;FS=48.934;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-1.361;SOR=5.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:80:.:.:0,80,1142:.	4	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	338.61	61	chr1	85158757	.	C	G	338.61	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.43;DP=368;ExcessHet=3.1439;FS=172.787;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.604;SOR=8.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,12:51:99:.:.:141,0,276:.	1	0	4	1
chr1	85464786	85464786	G	A	exonic	DDAH1	.	nonsynonymous SNV	DDAH1:NM_012137:exon1:c.C260T:p.T87M	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0880683401548	0.0004	0.000199681	0.0013	0.0003	0.0003	0	0.0027	0.0019	0.0030	0.0002	0.0009702	150	154602	rs139393958	0.0013	0.0013	0.0014	0.0013	0.0015	0.0013	0.0013	0.0015	0.0014	0.0002	0.0003	0.0006	0	0.0017	0.0012	0.0015	0.0012	0.0004	0.0010	0.0010	0.0009	0.0010	0.0015	0.0008	0.0008	0.0012	0.0012	0.0002	0	0.0004	0	0	0.0025	0	0.0015	0	0.0010	0.004	0.65419	D	0.018	0.59732	D	0.997	0.70673	D	0.887	0.62952	P	0.000209	0.47681	D	0.136023	1	0.81001	D	2.775	0.80997	M	.	.	.	-2.81	0.59389	D	0.766	0.76388	-0.2048	0.77546	T	0.433	0.77426	T	9	0.1203928	0.22802	T	0.088068	0.75061	D	0.595	0.83911	.	.	0.658958933578	0.65610	0.7144218370268028	0.71385	1.06807590383	0.76700	0.809051036835	0.83346	D	0.805079	0.95069	D	-0.187839	0.22575	T	-0.0498573	0.67032	D	0.125128418207169	0.14925	T	0.938806	0.76978	D	0.76213145	0.81579	0.6184795	0.77783	0.76213145	0.81581	0.6184795	0.77784	-7.459	0.57322	T	.	.	0.196	0.41723	B	.	.	5.476906	0.91337	32	0.99896642850937734	0.96971	0.96327	0.68596	D	ALL	0.918891	0.88861	D	0.786228993530717	0.85237	8.516407	0.740241625442404	0.85425	8.57709	1.0	0.98316	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.91	4.91	0.63897	8.500000	0.90331	11.469000	0.92852	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.064	0.89312	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1301.83	36	chr1	85464786	.	G	A	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=256;ExcessHet=0;FS=0.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.41;SOR=0.84	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1045	5	0	1	0
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y	.	423	1086	12	0	1	13	0.00549451	.	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.08333	1773.83	33	chr1	86438966	.	G	T	1773.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=315;ExcessHet=0;FS=2.196;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.9;SOR=0.505	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr1	86440317	86440317	G	A	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon8:c.G1373A:p.R458H	.	431	1084	6	1	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00218721796947	0.0002	.	0.0002	0	0	0.0001	0	0.0003	0	0.0001	0.0001358	21	154602	rs150391383	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	2.993e-05	0.0001	0	5.041e-05	0	0.0009	0.0001	0.0002	6.983e-05	6.575e-05	6.568e-05	6.427e-05	6.729e-05	0.0002	3.519e-05	2.618e-05	4.766e-05	3.34e-05	2.415e-05	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.248	0.17239	T	0.167	0.30729	T	0.0	0.02946	B	0.001	0.04355	B	0.684293	0.10231	N	0.863935	1	0.08975	N	-0.56	0.02328	N	2.5	0.14408	T	0.36	0.03700	N	0.113	0.10056	-0.9196	0.45608	T	0.004	0.01470	T	10	0.033088803	0.01476	T	0.002187	0.04124	T	0.012	0.01476	.	.	0.0297737177859	0.01360	0.1356224354718933	0.13486	0.0792440916424	0.08917	0.208227068186	0.00738	T	0.054813	0.29830	T	-0.660967	0.00062	T	-0.897066	0.00523	T	0.0111651357844082	0.00163	T	0.345165	0.07572	T	0.025076851	0.01405	0.03016771	0.01440	0.025076851	0.01404	0.03016771	0.01440	-3.329	0.14113	T	.	.	0.051	0.00191	B	.	.	-0.202555	0.03078	0.482	0.74443209500855789	0.10697	0.00321	0.01686	N	AEFBI	0.034798	0.04373	N	-1.34622649766614	0.03164	0.1408965	-1.34377283163789	0.03880	0.18189	0.0151610566519318	0.12681	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.77	-3.16	0.04897	-0.290000	0.08390	-1.277000	0.05837	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5495:0.1008:0.2585:0.0912	3.780	0.08197	733	0.53988	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	632.83	43	chr1	86440317	.	G	A	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.619;DP=231;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.152;SOR=0.935	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1364	5	0	1	0
chr1	86489027	86489027	-	TGAAATTG	exonic	CLCA1	.	frameshift insertion	CLCA1:NM_001285:exon8:c.1214_1215insTGAAATTG:p.L409Kfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2280.79	33	chr1	86489027	.	C	CTGAAATTG	2280.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=0.677;SOR=0.709	GT:AD:DP:GQ:PL	0/1:34,57:91:99:2291,0,1238	5	0	1	0
chr1	89266553	89266553	G	A	exonic	GBP5	.	nonsynonymous SNV	GBP5:NM_001134486:exon6:c.C661T:p.R221C,GBP5:NM_052942:exon7:c.C661T:p.R221C	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0646985560628	0.0003	0.000599042	0.0006	0	0.0002	0.0001	0.0002	0.0006	0	0.0015	0.0004722	73	154602	rs377547796	0.0003	0.0003	0.0003	0.0004	0.0021	0.0003	0.0003	0.0014	0.0013	2.993e-05	0.0003	0.0002	0.0004	1.872e-05	0.0021	0.0002	0.0006	0.0016	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0010	0.0009	2.407e-05	0	0.0015	0	0.0002	0	0.0034	0.0003	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.028641	0.25571	N	0.392394	0.995276	0.42618	D	3.865	0.95877	H	-1.92	0.84773	D	-7.01	0.93764	D	0.791	0.78737	0.508	0.90659	D	0.748	0.91398	D	10	0.15756142	0.29649	T	0.064699	0.69357	D	0.603	0.84345	.	.	0.909276104974	0.90836	0.593868576352936	0.59316	.	.	0.532137036324	0.43336	T	0.705845	0.93355	D	-0.0566685	0.43426	T	0.132593	0.79060	D	0.221051357737271	0.21516	T	0.980702	0.93402	D	0.41072348	0.61467	0.37510547	0.62661	0.41072348	0.61468	0.37510547	0.62661	-8.858	0.66778	D	.	.	0.163	0.35951	B	.;.	.;.	3.089721	0.41597	21.4	0.99614701975393216	0.75052	0.75795	0.37130	D	AEFI	0.287876	0.39991	N	0.177053131409131	0.50099	3.203191	-0.0463198942896183	0.37649	2.207321	0.999844539266874	0.43971	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	1.342000	0.33524	-0.929000	0.06890	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.000000	0.00833	0.0913:0.0:0.7401:0.1686	7.319	0.25689	445	0.79730	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain;Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) 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	0.003528	0.000000	0.004076	0.002924	0.000000	0.008621	0.006135	0.000000	0.08333	1115.83	35	chr1	89266553	.	G	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.392;DP=260;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.084;SOR=0.495	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1126,0,1062	5	0	1	0
chr1	89933291	89933291	G	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.G223A:p.V75I,LRRC8D:NM_018103:exon3:c.G223A:p.V75I	.	424	1097	1	0	0	1	0.000455581	.	.	.	3288080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.005869410284	7.7e-05	.	0.0002	0	8.672e-05	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200937607	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0018	0	0	0	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	9.147e-05	7.703e-05	0.0001	8.286e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0.0005	0	0.272	0.20532	T	0.474	0.12993	T	0.0	0.02946	B	0.002	0.06944	B	0.831594	0.09102	N	0.920454	1	0.08975	N	0	0.06538	N	1.49	0.44461	T	-0.04	0.12472	N	0.016	0.00717	-0.9715	0.36883	T	0.015	0.05801	T	9	0.01427424	0.00301	T	0.005869	0.15281	T	0.054	0.15330	.	.	0.187035705434	0.18338	0.06505639114673414	0.06444	0.470340502162	0.46312	0.284429430962	0.08118	T	0.012107	0.10698	T	-0.481868	0.00721	T	-0.629622	0.10443	T	0.010870267637074	0.00155	T	0.518948	0.18281	T	0.08038302	0.18417	0.036254894	0.03036	0.08038302	0.18416	0.036254894	0.03036	-3.566	0.17367	T	.	.	0.068	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212456	0.03027	0.463	0.86747476219819053	0.16745	0.14602	0.18489	N	AEFDBHI	0.099741	0.20071	N	-1.01206696687564	0.08353	0.3913383	-0.978333237273347	0.10273	0.5163077	0.999993936372159	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	-0.289	0.12214	0.355000	0.19902	0.288000	0.16841	0.676000	0.76740	0.510000	0.27033	0.002000	0.18203	0.236000	0.22896	0.4096:0.1104:0.3544:0.1256	2.257	0.03810	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2195.83	35	chr1	89933291	.	G	A	2195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.436;DP=333;ExcessHet=0;FS=2.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.348;SOR=0.944	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1170	5	0	1	0
chr1	92032507	92032507	T	G	exonic	EPHX4	.	nonsynonymous SNV	EPHX4:NM_173567:exon2:c.T234G:p.D78E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00814658442103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	0.03382	T	0.733	0.05109	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.049690	0.896823	0.36077	D	0.125	0.08623	N	0.21	0.59983	T	-0.23	0.10656	N	0.17	0.18103	-0.9949	0.31326	T	0.040	0.17106	T	10	0.10015711	0.18221	T	0.008147	0.21598	T	0.202	0.48754	0.383	0.40134	0.463586170655	0.45986	0.4765394040386533	0.47573	0.239194311658	0.26471	0.878940403461	0.93817	D	0.020256	0.15985	T	-0.21438	0.18766	T	-0.545718	0.17740	T	0.225054413080215	0.21713	T	0.649135	0.25986	T	0.080345646	0.18405	0.08508056	0.19619	0.080345646	0.18405	0.08508056	0.19618	-3.89	0.22152	T	.	.	0.125	0.26263	B	.	.	1.580180	0.20222	14.65	0.9621252192477785	0.29060	0.69406	0.34175	D	AEFBI	0.147878	0.27164	N	-0.66410329648015	0.17050	0.8741075	-0.508498356791521	0.21922	1.188217	0.997131475477204	0.35307	0.615465	0.37627	0	0.59043	0.45803	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	-0.191	0.12601	0.211000	0.17268	0.045000	0.13922	0.665000	0.62972	0.997000	0.40164	0.962000	0.29361	0.992000	0.67800	0.0:0.3855:0.0:0.6145	11.260	0.48308	857	0.34089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	596.83	34	chr1	92032507	.	T	G	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.608;DP=224;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.61;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	5	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N,GLMN:NM_053274:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	2	1456	62	2	0	66	0.0221625	.	.	.	281879	GLMN-related_disorder|not_specified|not_provided|Glomuvenous_malformation	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	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	0.009567	0.010101	0.002717	0.000000	0.000000	0.008621	0.009146	0.026515	0.08333	834.83	35	chr1	92291432	.	C	T	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.459;DP=266;ExcessHet=0;FS=2.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.114;SOR=0.424	GT:AD:DP:GQ:PL	0/1:54,38:92:99:845,0,1426	5	0	1	0
chr1	92703534	92703534	T	C	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon4:c.A557G:p.D186G,EVI5:NM_001350197:exon4:c.A425G:p.D142G,EVI5:NM_001350198:exon4:c.A425G:p.D142G,EVI5:NM_001377210:exon4:c.A548G:p.D183G,EVI5:NM_001377211:exon4:c.A425G:p.D142G,EVI5:NM_001377212:exon4:c.A425G:p.D142G,EVI5:NM_005665:exon4:c.A557G:p.D186G,EVI5:NM_001377213:exon5:c.A506G:p.D169G	.	423	1098	1	0	0	1	0.000455166	.	.	.	3256187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.0153495906479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773081130	2.758e-06	3.42e-06	2.743e-06	2.773e-06	4.808e-05	6.5e-07	4.4e-07	1.622e-05	9.56e-06	0	0	0	0	0	0	0	0	4.808e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.21	0.26883	T	0.727	0.42493	P	0.403	0.44588	B	0.000000	0.84330	D	0.042605	1	0.81001	D	0.625	0.15840	N	2.76	0.11515	T	-2.67	0.57110	D	0.583	0.60410	-0.9651	0.38191	T	0.013	0.04985	T	10	0.3525477	0.52080	T	0.01535	0.36031	T	0.300	0.62068	0.482	0.56302	0.282179105231	0.27821	0.5620255517137736	0.56129	0.577703311461	0.53685	0.790250837803	0.80482	T	0.083115	0.36981	T	-0.0509656	0.44301	T	-0.203328	0.54331	T	0.828941345214844	0.48447	D	0.941006	0.77964	D	0.68136525	0.77043	0.5557778	0.74306	0.68136525	0.77044	0.5557778	0.74307	-6.068	0.46844	T	.	.	0.239	0.47327	B	.;.	.;.	4.502134	0.70423	25.5	0.99682391215547428	0.79373	0.99370	0.95141	D	AEFBI	0.922006	0.89632	D	0.321098279649241	0.57233	3.889858	0.45957969227056	0.65333	4.810719	0.999999895177884	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	8.017000	0.88732	7.952000	0.75854	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.923	0.79375	288	0.88579	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	.	.	.	.	.	.	.	.	0.08333	887.83	66	chr1	92703534	.	T	C	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.74;DP=248;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.572;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1264	5	0	1	0
chr1	92704581	92704581	G	A	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon3:c.C445T:p.R149C,EVI5:NM_001350197:exon3:c.C313T:p.R105C,EVI5:NM_001350198:exon3:c.C313T:p.R105C,EVI5:NM_001377210:exon3:c.C436T:p.R146C,EVI5:NM_001377211:exon3:c.C313T:p.R105C,EVI5:NM_001377212:exon3:c.C313T:p.R105C,EVI5:NM_001377213:exon3:c.C313T:p.R105C,EVI5:NM_005665:exon3:c.C445T:p.R149C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0267982799449	.	.	2.535e-05	0	0	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs200740554	1.753e-05	2.257e-05	2.233e-05	1.268e-05	3.151e-05	1.203e-05	1.017e-05	1.314e-05	1.122e-05	3.151e-05	0	0	0	1.902e-05	0	2.007e-05	0	1.251e-05	1.316e-05	1.314e-05	1.286e-05	1.348e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.169	0.22920	T	0.171	0.30436	T	0.999	0.77913	D	0.836	0.59919	P	0.000004	0.62929	D	0.143577	1	0.81001	D	1.845	0.48678	L	3.64	0.04309	T	-3.44	0.67477	D	0.56	0.58883	-1.0127	0.26070	T	0.019	0.07893	T	10	0.503372	0.61677	D	0.026798	0.49675	D	0.142	0.37995	.	.	0.529161192476	0.52563	0.6576374033194198	0.65700	0.326190094163	0.34767	0.706628262997	0.68104	T	0.022993	0.17626	T	0.0286046	0.55536	T	-0.196688	0.54959	T	0.938514828681946	0.60919	D	0.99565	0.98465	D	0.24532685	0.47490	0.20893987	0.45217	0.24532685	0.47490	0.20893987	0.45216	-6.203	0.47947	T	.	.	0.097	0.20235	B	.;.	.;.	5.562350	0.92146	32	0.9989948977176093	0.97199	0.94327	0.60813	D	AEFBI	0.666810	0.63515	D	0.612566046725236	0.73969	6.053634	0.641340164876147	0.77965	6.782486	0.99953873028647	0.40238	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.550000	0.60443	7.599000	0.61500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0738:0.0:0.9262:0.0	12.938	0.57724	281	0.88893	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	835.83	36	chr1	92704581	.	G	A	835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.621;DP=246;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.686;SOR=0.549	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	5	0	1	0
chr1	93193678	93193678	A	-	exonic	CCDC18	.	frameshift deletion	CCDC18:NM_001306076:exon6:c.632delA:p.Q211Rfs*8,CCDC18:NM_001378204:exon6:c.632delA:p.Q211Rfs*8,CCDC18:NM_206886:exon6:c.632delA:p.Q211Rfs*8	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.309e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs756274248	3.476e-06	3.42e-06	2.767e-06	4.192e-06	4.538e-06	1.02e-06	7.4e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.538e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	423.79	17	chr1	93193677	.	CA	C	423.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.238;DP=126;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.93;ReadPosRankSum=1.48;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,914	5	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|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|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.08333	1231.83	33	chr1	94008251	.	C	T	1231.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=260;ExcessHet=0;FS=1.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.279;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	5	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1091.96	47	chr1	99884396	.	T	C	1091.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.345;DP=458;ExcessHet=3.1439;FS=166.15;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.591;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,17:70:99:0|1:99884396_T_C:206,0,1674:99884396	2	0	4	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	482.03	48	chr1	99884400	.	T	C	482.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.255;DP=427;ExcessHet=1.383;FS=229.354;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.338;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:97:.:.:0,97,1311:.	3	0	3	0
chr1	100442953	100442953	T	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319210:exon7:c.T476A:p.F159Y,CDC14A:NM_001319211:exon7:c.T302A:p.F101Y,CDC14A:NM_003672:exon7:c.T476A:p.F159Y,CDC14A:NM_033312:exon7:c.T476A:p.F159Y,CDC14A:NM_033313:exon7:c.T476A:p.F159Y	Deafness, autosomal recessive 105, Autosomal recessive	547	974	1	0	0	1	0.000513084	.	.	.	1509908	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00821643375541	.	0.000199681	0.0002	0	0	0	0	1.504e-05	0	0.0013	0.0001488	23	154602	rs568592855	6.611e-05	6.772e-05	2.88e-05	0.0001	0.0011	5.531e-05	5.141e-05	0.0009	0.0008	0	0	0	0	0	0.0002	9.059e-07	3.33e-05	0.0011	3.94e-05	3.937e-05	1.285e-05	6.712e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.024	0.49117	D	0.087	0.40747	T	0.272	0.31812	B	0.328	0.42011	B	0.000000	0.84330	D	0.047968	0.999446	0.47080	D	0.87	0.21467	L	0.86	0.46777	T	-1.45	0.36787	N	0.676	0.68516	-0.9984	0.30367	T	0.083	0.32499	T	10	0.0467633	0.03908	T	0.008216	0.21776	T	0.118	0.32913	0.461	0.52916	0.769345538358	0.76723	0.5256763967195963	0.52491	0.291335797318	0.31540	0.79609143734	0.81368	T	0.079676	0.36185	T	-0.354835	0.04430	T	-0.323006	0.42243	T	0.12013620952803	0.14443	T	0.868613	0.61581	D	0.42097184	0.62156	0.17335014	0.39656	0.42097184	0.62157	0.17335014	0.39655	-9.911	0.73510	D	0.3273558377150697	0.42547	0.549	0.72050	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.204389	0.63475	24.6	0.9734151507716059	0.33476	0.93472	0.58309	D	AEBI	0.658055	0.62947	D	0.116882341056006	0.47251	2.953394	0.271187248044604	0.53865	3.553387	0.998278892337374	0.36679	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.25	5.25	0.73169	5.790000	0.68684	7.827000	0.69967	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.961	0.57857	252	0.90114	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1459.83	33	chr1	100442953	.	T	A	1459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.006;DP=285;ExcessHet=0;FS=1.546;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.039;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	5	0	1	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q,CDC14A:NM_001319210:exon11:c.G1034A:p.R345Q,CDC14A:NM_001319211:exon11:c.G860A:p.R287Q,CDC14A:NM_003672:exon11:c.G1034A:p.R345Q,CDC14A:NM_033312:exon11:c.G1034A:p.R345Q,CDC14A:NM_033313:exon11:c.G1034A:p.R345Q	Deafness, autosomal recessive 105, Autosomal recessive	438	1058	26	0	0	26	0.0121382	.	.	YES	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	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	0	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.011765	0.050000	0.000000	0.006098	0.003788	0.08333	644.83	35	chr1	100484348	.	G	A	644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.475;DP=242;ExcessHet=0;FS=3.67;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=2.3;SOR=0.328	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1040	5	0	1	0
chr1	108718912	108718912	G	A	exonic	FNDC7	.	nonsynonymous SNV	FNDC7:NM_001144937:exon4:c.G461A:p.S154N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0015	0.000599042	0.0014	0.0005	0	0	0.0062	0.0019	0.0124	0	0.000608	94	154602	rs61747960	0.0032	0.0031	0.0033	0.0031	0.0036	0.0031	0.0031	0.0035	0.0035	0.0004	0.0007	0.0002	0	0.0067	0.0005	0.0036	0.0033	0.0002	0.0026	0.0026	0.0025	0.0028	0.0037	0.0024	0.0023	0.0033	0.0032	0.0008	0	0.0018	0.0003	0	0.0075	0	0.0037	0.0038	0.0004	0.579	0.06011	T	0.538	0.09829	T	.	.	.	.	.	.	0.002886	0.35770	N	0.353536	1	0.08975	N	0.345	0.11182	N	0.36	0.57880	T	0.33	0.03889	N	0.04	0.01347	-1.0404	0.17192	T	0.030	0.12892	T	10	0.0028458834	0.00045	T	.	.	.	0.069	0.20116	.	.	0.454893017966	0.45111	0.1538356062930653	0.15305	0.100186145795	0.11325	0.315197557211	0.12693	T	0.002145	0.01547	T	-0.604862	0.00136	T	-0.641215	0.09581	T	0.00364854343212403	0.00039	T	0.565643	0.19997	T	0.083984576	0.19417	0.0915019	0.21516	0.083984576	0.19417	0.0915019	0.21515	-3.759	0.20194	T	.	.	0.062	0.01328	B	.	.	1.945277	0.24705	16.50	0.89260968129017237	0.18646	0.58998	0.30794	D	AEFDBI	0.076229	0.15330	N	-0.564539761680465	0.20030	1.052898	-0.402070508313336	0.24936	1.368391	0.999983515645666	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.69	4.78	0.60666	1.232000	0.32238	5.115000	0.47543	0.676000	0.76740	0.122000	0.23210	1.000000	0.68203	0.918000	0.45347	0.1461:0.0:0.8539:0.0	10.619	0.44660	806	0.43582	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	0.002506	0.000000	0.009091	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1420.83	33	chr1	108718912	.	G	A	1420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=280;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.172;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	5	0	1	0
chr1	109197578	109197578	-	A	exonic	ELAPOR1	.	frameshift insertion	ELAPOR1:NM_001284353:exon9:c.1213dupA:p.I405Nfs*22,ELAPOR1:NM_001267048:exon14:c.1966dupA:p.I656Nfs*22,ELAPOR1:NM_001284352:exon15:c.1921dupA:p.I641Nfs*22,ELAPOR1:NM_020775:exon16:c.2227dupA:p.I743Nfs*22	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3000.03	34	chr1	109197578	.	C	CA	3000.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.492;DP=402;ExcessHet=0.4139;FS=1.62;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.46;SOR=0.685	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1729,0,2055	4	0	2	0
chr1	109264342	109264342	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon10:c.C5266T:p.R1756C	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0769515876763	.	.	9.133e-05	0	0	0	0	9.079e-05	0	0.0003	7.76e-05	12	154602	rs115968305	0.0002	0.0002	0.0002	0.0001	0.0021	0.0002	0.0001	0.0012	0.0009	0.0002	8.963e-05	0	0	0	0.0021	0.0002	8.318e-05	0.0002	5.912e-05	5.909e-05	3.853e-05	8.067e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.236e-05	0	0	0	0.0002	0	0	5.879e-05	0	0.0002	0.045	0.40832	D	0.012	0.63918	D	0.994	0.66517	D	0.72	0.54860	P	.	.	.	.	0.997	0.22962	N	1.04	0.26193	L	-1.02	0.76300	T	-3.66	0.70067	D	0.442	0.48042	-0.6691	0.61869	T	0.294	0.66564	T	9	0.48876777	0.60866	T	0.076952	0.72654	D	0.393	0.70844	0.736	0.86892	0.713686852558	0.71118	0.7018235300873554	0.70123	1.25257871173	0.81842	0.502263188362	0.39143	T	0.637684	0.88850	D	-0.193776	0.21704	T	-0.223974	0.52353	T	0.426402517055776	0.29927	T	0.973303	0.90409	D	0.19419156	0.41159	0.16138187	0.37540	0.19419156	0.41159	0.16138187	0.37539	-9.978	0.73780	D	0.18048007136010408	0.23229	0.226	0.45810	B	.	.	4.575236	0.72228	25.8	0.99913946712027502	0.98238	0.11425	0.16625	N	AEFGBCI	0.079594	0.16080	N	0.230228980882343	0.52669	3.439614	0.214003370614397	0.50622	3.252503	0.999910113054079	0.45857	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.691587	0.68394	0	.	.	5.14	5.14	0.70008	0.256000	0.18120	5.853000	0.50357	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.582000	0.30943	0.0:0.9148:0.0:0.0852	11.650	0.50542	791	0.46100	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1042.83	36	chr1	109264342	.	C	T	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.87;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.607;SOR=0.656	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr1	109281881	109281881	G	A	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.C257T:p.A86V,PSRC1:NM_001005290:exon4:c.C257T:p.A86V,PSRC1:NM_001032291:exon4:c.C257T:p.A86V,PSRC1:NM_001350238:exon4:c.C257T:p.A86V,PSRC1:NM_001350239:exon4:c.C257T:p.A86V,PSRC1:NM_001350240:exon4:c.C257T:p.A86V,PSRC1:NM_001350241:exon4:c.C257T:p.A86V,PSRC1:NM_001350242:exon4:c.C257T:p.A86V,PSRC1:NM_001363309:exon4:c.C257T:p.A86V,PSRC1:NM_032636:exon4:c.C257T:p.A86V	.	434	1063	23	2	0	27	0.0125406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0018	0.00159744	0.0033	0.0007	0.0009	0	0.0023	0.0029	0.0023	0.0104	0.0030271	468	154602	rs116496512	0.0032	0.0032	0.0029	0.0034	0.0132	0.0031	0.0031	0.0108	0.0099	0.0007	0.0014	0.0035	0	0.0022	0.0132	0.0030	0.0029	0.0096	0.0022	0.0022	0.0021	0.0023	0.0064	0.0020	0.0019	0.0046	0.0040	0.0004	0.0011	0.0014	0.0043	0	0.0024	0.0171	0.0031	0.0028	0.0064	0.006	0.63226	D	0.0	0.92824	D	0.01	0.15535	B	0.027	0.21085	B	0.027528	0.25742	N	0.397080	1	0.08975	N	2.075	0.57047	M	0.18	0.60361	T	-2.26	0.50502	N	0.229	0.28498	-1.0019	0.29372	T	0.080	0.31586	T	10	0.0059845746	0.00134	T	.	.	.	0.133	0.36157	.	.	0.650309897564	0.64740	0.2293252498829944	0.22847	0.20603035663	0.23027	0.357421278954	0.19009	T	0.066274	0.39161	T	-0.361159	0.04065	T	-0.283595	0.46435	T	0.0356868979356617	0.02925	T	0.675332	0.28377	T	0.15835074	0.35630	0.1507517	0.35539	0.15835074	0.35630	0.1507517	0.35539	-7.069	0.54537	T	.	.	0.139	0.30370	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.896661	0.38380	20.7	0.99884311473574006	0.95970	0.20971	0.21235	N	AEFDBHI	0.297057	0.40674	N	-0.540945000539414	0.20769	1.097295	-0.513461371108263	0.21788	1.180281	0.999999834253446	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	6.03	5.12	0.69459	2.337000	0.43605	6.645000	0.56196	0.676000	0.76740	0.060000	0.21767	0.998000	0.33993	0.447000	0.27828	0.0826:0.0:0.9174:0.0	11.417	0.49198	650	0.62973	.;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.08333	757.83	34	chr1	109281881	.	G	A	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.933;DP=241;ExcessHet=0;FS=6.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.71;SOR=0.98	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	5	0	1	0
chr1	109296879	109296879	C	T	exonic	MYBPHL	.	nonsynonymous SNV	MYBPHL:NM_001010985:exon5:c.G634A:p.G212S,MYBPHL:NM_001265613:exon5:c.G565A:p.G189S	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.190070852751	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0005	0	0.0008	0.0001921	5	26028	rs140827712	0.0003	0.0003	0.0003	0.0003	0.0038	0.0003	0.0002	0.0026	0.0022	2.987e-05	0.0002	0	2.519e-05	0	0.0038	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0.0002	0	0	0	0	0.0004	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999819	0.49394	D	3.72	0.94773	H	0.08	0.61559	T	-5.85	0.88495	D	0.581	0.60241	-0.1360	0.79261	T	0.370	0.72963	T	9	0.3620591	0.52810	T	0.190071	0.86102	D	0.528	0.80067	.	.	0.896085941692	0.89505	0.47216995120068683	0.47135	0.623771184551	0.56604	0.58106136322	0.50235	T	0.148583	0.48720	T	-0.164479	0.26074	T	-0.0945439	0.63816	T	0.390572978037952	0.28586	T	0.991072	0.97257	D	0.7022109	0.78177	0.76681715	0.86228	0.7022109	0.78179	0.76681715	0.86229	-9.856	0.73045	D	.	.	0.534	0.66081	A	.	.	4.297093	0.65585	24.8	0.99849773673670417	0.92925	0.98765	0.86563	D	AEFDBI	0.823163	0.74333	D	0.682712693359012	0.78499	6.884157	0.567840226701742	0.72646	5.843025	0.999999999206493	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.91	4.0	0.45673	5.802000	0.68783	4.051000	0.41508	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.981000	0.58702	0.168:0.832:0.0:0.0	12.496	0.55269	644	0.63734	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.1667	4845.06	42	chr1	109296879	.	C	T	4845.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.83;DP=536;ExcessHet=0.4139;FS=1.239;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.08;SOR=0.771	GT:AD:DP:GQ:PL	0/1:84,104:188:99:2889,0,1988	4	0	2	0
chr1	109367478	109367478	T	C	exonic	SORT1	.	nonsynonymous SNV	SORT1:NM_002959:exon3:c.A370G:p.I124V	.	428	1080	12	2	0	16	0.00735294	.	.	.	2809059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	.	0.0043	0.00219649	0.0031	0.0009	0.0027	0	0	0.0043	0.0077	0.0025	0.0030142	466	154602	rs61797119	0.0038	0.0040	0.0038	0.0039	0.0252	0.0038	0.0037	0.0218	0.0206	0.0010	0.0032	0.0167	0	0.0006	0.0252	0.0039	0.0049	0.0021	0.0033	0.0034	0.0035	0.0031	0.0065	0.0031	0.0030	0.0055	0.0051	0.0011	0	0.0065	0.0184	0	0.0007	0.0306	0.0039	0.0052	0.0010	0.156	0.24090	T	0.16	0.31427	T	0.242	0.30930	B	0.071	0.27960	B	0.000073	0.52346	D	0.128203	0.994734	0.81001	D	1.32	0.33002	L	1.14	0.38397	T	-0.65	0.18877	N	0.144	0.14480	-1.0891	0.05684	T	0.030	0.12717	T	10	0.010013223	0.00224	T	.	.	.	0.020	0.03691	.	.	0.441323511866	0.43749	0.4379122996076935	0.43708	1.75258816871	0.91011	0.548451066017	0.45639	T	0.180169	0.53142	T	-0.494548	0.00613	T	-0.483168	0.24111	T	0.00511788713177906	0.00055	T	0.808919	0.45897	T	0.09460486	0.22247	0.056598093	0.10141	0.09460486	0.22246	0.056598093	0.10140	-5.427	0.41178	T	.	.	0.142	0.31304	B	.	.	2.412754	0.31014	18.61	0.99502179040847538	0.68089	0.75384	0.36907	D	AEFBI	0.200022	0.32678	N	-0.152309713924512	0.35136	2.014404	-0.0114272979051385	0.39198	2.320491	0.999592207771268	0.40745	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.41	4.29	0.50359	2.432000	0.44442	6.202000	0.54905	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0919:0.0:0.9081	8.027	0.29605	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021652	0.040404	0.019022	0.055556	0.000000	0.017241	0.000000	0.003788	0.08333	822.83	34	chr1	109367478	.	T	C	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=261;ExcessHet=0;FS=5.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.774;SOR=1.336	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	95.91	74	chr1	109508616	.	G	C	95.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.831;DP=465;ExcessHet=0;FS=105.96;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,12:104:99:0|1:109508616_G_C:103,0,3639:109508616	2	0	1	3
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.83	37	chr1	109508617	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.799;DP=330;ExcessHet=0;FS=46.245;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.89;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,12:106:97:0|1:109508616_G_C:97,0,3682:109508616	5	0	1	0
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.83	37	chr1	109508618	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.281;DP=292;ExcessHet=0;FS=46.245;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.76;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,12:106:97:0|1:109508616_G_C:97,0,3682:109508616	5	0	1	0
chr1	109751734	109751734	G	A	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon15:c.C1294T:p.R432W,EPS8L3:NM_024526:exon16:c.C1393T:p.R465W,EPS8L3:NM_133181:exon16:c.C1483T:p.R495W,EPS8L3:NM_139053:exon16:c.C1486T:p.R496W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0184605341436	0.0013	0.000399361	0.0008	0.0004	0.0003	0	0.0003	0.0012	0	6.056e-05	0.0008085	125	154602	rs75744349	0.0011	0.0011	0.0012	0.0011	0.0013	0.0011	0.0010	0.0013	0.0012	5.974e-05	0.0005	0.0016	0	0.0005	0	0.0013	0.0008	0.0001	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0017	0	0.0004	0	0.0012	0.0009	0	0.004	0.65419	D	0.007	0.69154	D	0.972	0.57405	D	0.471	0.47969	P	0.043091	0.23774	N	0.488986	1	0.08975	N	1.92	0.51302	L	0.67	0.52187	T	-3.34	0.66325	D	0.356	0.39760	-1.0254	0.21952	T	0.071	0.28969	T	10	0.027573317	0.00901	T	0.018461	0.40531	T	0.077	0.22490	.	.	0.678419706176	0.67568	0.4692958812240566	0.46848	0.236396520349	0.26177	0.244182661176	0.03179	T	0.031573	0.22103	T	-0.445915	0.01194	T	-0.44868	0.27842	T	0.0618794027933199	0.07462	T	0.39716	0.10529	T	0.09465741	0.22260	0.12037552	0.29051	0.09465741	0.22260	0.12037552	0.29051	-8.037	0.62263	D	0.5083734905981794	0.58248	0.121	0.27998	B	.;.;.	.;.;.	2.970078	0.39582	21.0	0.9933306029627299	0.59856	0.05075	0.10870	N	AEFDBI	0.242021	0.36355	N	-0.308918744638769	0.28807	1.592107	-0.489562507948634	0.22440	1.218855	0.00344021829866547	0.10114	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.72	1.69	0.23290	0.384000	0.20396	3.150000	0.36521	0.676000	0.76740	0.000000	0.06391	0.368000	0.24554	0.034000	0.13613	0.082:0.2933:0.4732:0.1515	4.271	0.10231	573	0.70213	.;.;SH3 domain|SH3 domain|SH3 domain|Eps8, SH3 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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	562.83	54	chr1	109751734	.	G	A	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.581;SOR=0.798	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	5	0	1	0
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M,EPS8L3:NM_024526:exon9:c.C724A:p.L242M,EPS8L3:NM_133181:exon9:c.C724A:p.L242M,EPS8L3:NM_139053:exon9:c.C727A:p.L243M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	93.83	36	chr1	109758052	.	G	T	93.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.56;DP=214;ExcessHet=0;FS=43.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.246;SOR=5.783	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	110222980	110222980	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695T:p.S232F,KCNC4:NM_001377330:exon2:c.C695T:p.S232F,KCNC4:NM_004978:exon2:c.C695T:p.S232F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.415390360335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.555	0.93317	H	-4.42	0.97469	D	-5.48	0.85692	D	0.943	0.95021	1.104	0.99799	D	0.957	0.98595	D	10	0.9137001	0.90733	D	0.41539	0.93684	D	0.963	0.99463	0.703	0.83962	0.995042213014	0.99499	0.9843020259973444	0.98423	2.2832383922	0.96332	0.910830080509	0.97548	D	0.846159	0.96455	D	0.577664	0.96961	D	0.591998	0.96911	D	0.997341215610504	0.91335	D	0.989601	0.96561	D	0.9369454	0.94937	0.8874197	0.94084	0.9369454	0.94937	0.8874197	0.94084	-14.666	0.95149	D	.	.	0.999	0.98504	P	.;.;.	.;.;.	5.472584	0.91291	32	0.99814070080180828	0.89797	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.854570977669688	0.89366	9.942557	0.788536410759702	0.88985	9.792933	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	59.34	34	chr1	110222980	.	C	T	59.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.094;DP=490;ExcessHet=0;FS=31.242;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=2.56;SOR=4.823	GT:AD:DP:GQ:PL	0/0:88,0:88:2:0,2,1690	4	0	1	1
chr1	111319364	111319364	T	C	exonic	CHIA	.	nonsynonymous SNV	CHIA:NM_001258002:exon7:c.T590C:p.M197T,CHIA:NM_021797:exon8:c.T749C:p.M250T,CHIA:NM_001040623:exon9:c.T590C:p.M197T,CHIA:NM_001258003:exon9:c.T749C:p.M250T,CHIA:NM_001258001:exon10:c.T749C:p.M250T,CHIA:NM_001258005:exon10:c.T590C:p.M197T,CHIA:NM_001258004:exon11:c.T590C:p.M197T,CHIA:NM_201653:exon11:c.T1073C:p.M358T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0134561446403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867998770	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0003	1.99e-06	1.28e-06	6.094e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	3.597e-06	0	0	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.946	0.53363	P	0.91	0.64641	D	0.000019	0.62929	N	0.064020	0.997536	0.43968	D	3.35	0.91085	M	2.98	0.09356	T	-4.82	0.82700	D	0.698	0.70790	-0.8604	0.51234	T	0.090	0.34491	T	10	0.9344397	0.92777	D	0.013456	0.32880	T	0.307	0.62838	0.855	0.95491	0.351614576976	0.34778	0.8600486123024969	0.85968	0.219014460907	0.24440	0.497991591692	0.38548	T	0.301749	0.67418	T	0.175149	0.71595	D	0.0138125	0.71229	D	0.99208128452301	0.82482	D	0.824517	0.48860	T	0.9339531	0.94634	0.88346624	0.93805	0.9339531	0.94635	0.88346624	0.93806	-9.723	0.72237	D	.	.	0.485	0.70787	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.345171	0.46112	22.2	0.99240396778574913	0.56533	0.90221	0.51227	D	AEFDBHCI	0.632233	0.61292	D	0.770955100038875	0.84262	8.238801	0.670685777687199	0.80159	7.237324	0.992614966423781	0.32904	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.278000	0.58741	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0:0.0:1.0	12.874	0.57372	828	0.39726	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1287.06	36	chr1	111319364	.	T	C	1287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.672;DP=299;ExcessHet=0.4139;FS=13.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.14;SOR=0.219	GT:AD:DP:GQ:PL	0/1:46,25:71:99:606,0,1206	4	0	2	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.08333	996.83	38	chr1	111477698	.	G	A	996.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.117;DP=280;ExcessHet=0;FS=4.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.093;SOR=0.29	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	552.06	35	chr1	112913901	.	C	G	552.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.084;DP=376;ExcessHet=0.4139;FS=63.697;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=1.74;SOR=6.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,19:96:99:.:.:284,0,1200:.	4	0	2	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	157.05	41	chr1	113590590	.	G	C	157.05	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.69;DP=225;ExcessHet=0;FS=81.711;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.086;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,326:.	0	0	1	5
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P,DENND2C:NM_001256404:exon4:c.T667C:p.S223P	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.020141	0.005051	0.016304	0.023392	0.000000	0.017241	0.036585	0.041667	0.08333	1606.83	125	chr1	114625318	.	A	G	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.707;DP=297;ExcessHet=0;FS=1.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.905;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	5	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	589.38	89	chr1	114732648	.	C	G	589.38	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.279;DP=588;ExcessHet=3.1439;FS=460.937;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=2.38;SOR=10.1	GT:AD:DP:GQ:PL	./.:101,0:101:0:0,0,1464	1	0	4	1
chr1	116579663	116579663	-	TCCTCC	exonic	IGSF3	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3062_3063insGGAGGA:p.D1020_D1021insEE,IGSF3:NM_001542:exon11:c.3122_3123insGGAGGA:p.D1040_D1041insEE	.	129	864	1	0	528	529	0.000578369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0.0006	0	0	0.0013	0.0013	0.0015	0.0010284	159	154602	rs576658823	0.0022	0.0027	0.0023	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0024	0.0002	0.0003	0.0005	0.0025	0.0024	0.0014	0.0017	0.0017	0.0019	0.0015	0.0030	0.0015	0.0014	0.0027	0.0026	0.0005	0	0.0005	0.0026	0.0004	0	0	0.0030	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4997.75	42	chr1	116579663	.	G	GTCCTCC	4997.75	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.359;DP=369;ExcessHet=2.3007;FS=1.639;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=3.44;SOR=0.577	GT:AD:DP:GQ:PL	0/0:28,0:49:99:798,882,1998	5	0	1	0
chr1	117121065	117121065	T	C	exonic	TRIM45	.	nonsynonymous SNV	TRIM45:NM_001145635:exon1:c.A137G:p.H46R,TRIM45:NM_025188:exon1:c.A137G:p.H46R	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.424360202322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000013	0.62929	D	0.125203	1	0.81001	D	4.1	0.97316	H	-6.16	0.99551	D	-6.79	0.92863	D	0.94	0.94786	0.978	0.96828	D	0.991	0.99759	D	10	0.9899241	0.99476	D	0.42436	0.93857	D	0.979	0.99840	0.951	0.99428	0.99845681958	0.99844	0.9564514170435776	0.95630	0.965204057572	0.73154	0.760313630104	0.75976	T	0.190506	0.54506	T	0.56094	0.96255	D	0.567975	0.96196	D	0.999414682388306	0.97310	D	0.80432	0.45710	T	0.8759355	0.89336	0.7794273	0.86994	0.8759355	0.89338	0.7794273	0.86995	-12.484	0.87128	D	.	.	0.630	0.76782	P	.;.	.;.	4.475698	0.69783	25.4	0.99630342498943236	0.76020	0.89945	0.50749	D	AEFGBHCI	.	.	.	0.920229518536942	0.92715	11.58568	0.817677496353392	0.90995	10.66734	0.999999999999977	0.74766	0.627647	0.40530	0	0.516746	0.08562	0	0.672317	0.60874	0	0.404113	0.06833	1	.	.	5.12	5.12	0.69459	6.466000	0.73458	7.655000	0.63911	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:0.0:0.0:1.0	12.914	0.57588	778	0.48011	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2894.83	204	chr1	117121065	.	T	C	2894.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.303;DP=376;ExcessHet=0;FS=1.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.31;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	5	0	1	0
chr1	119514359	119514359	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon4:c.G836A:p.R279H,HSD3B1:NM_001328615:exon4:c.G836A:p.R279H	.	0	1500	1	0	21	22	0.000333222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0138853439636	0.0008	0.000798722	0.0015	0.0003	0.0014	0	0.0002	0.0014	0.0022	0.0039	0.0013325	206	154602	rs144711345	0.0009	0.0009	0.0008	0.0010	0.0047	0.0009	0.0009	0.0033	0.0032	0.0002	0.0015	0.0028	0	5.616e-05	0.0047	0.0007	0.0014	0.0037	0.0011	0.0011	0.0010	0.0012	0.0035	0.0009	0.0009	0.0022	0.0018	0.0006	0	0.0025	0.0035	0	9.425e-05	0.0068	0.0010	0.0019	0.0035	0.497	0.07821	T	0.296	0.20615	T	0.002	0.09854	B	0.004	0.10090	B	0.570158	0.11246	N	0.826084	0.999999	0.08975	N	1.805	0.47535	L	-2.38	0.88298	D	-1.05	0.27463	N	0.05	0.02179	-0.7049	0.60203	T	0.331	0.69860	T	10	0.00701949	0.00160	T	0.013885	0.33612	T	0.175	0.44197	.	.	0.575045364607	0.57173	0.2424975473099069	0.24163	0.0294092290554	0.03026	0.184644564986	0.00144	T	0.460938	0.79791	T	-0.49525	0.00608	T	-0.484689	0.23949	T	0.00835563811659382	0.00101	T	0.189081	0.01998	T	0.033841386	0.03683	0.027723305	0.00946	0.033841386	0.03683	0.027723305	0.00946	-2.785	0.08046	T	.	.	0.079	0.07272	B	.;.	.;.	0.070102	0.04788	1.401	0.38819267600058671	0.02641	0.06738	0.12760	N	AEFBI	0.108253	0.21541	N	-1.14973415321105	0.05784	0.2645855	-1.24184497062397	0.05253	0.2498497	1.32551340192565E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.26	-1.12	0.09306	0.555000	0.23129	-3.092000	0.03068	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3148:0.1618:0.5234:0.0	4.922	0.13225	631	0.64944	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	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	0.004228	0.005051	0.004076	0.000000	0.000000	0.000000	0.018293	0.003788	0.08333	2504.83	35	chr1	119514359	.	G	A	2504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.257;DP=368;ExcessHet=0;FS=2.56;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.023;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	5	0	1	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	870.83	37	chr1	119727080	.	G	A	870.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.408;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	5	0	1	0
chr1	119844402	119844402	C	T	exonic	NBPF7	.	nonsynonymous SNV	NBPF7:NM_001047980:exon1:c.G134A:p.R45H	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0002	0.0008	0.0002	0	0.0008	0	0	0.0004981	77	154602	rs200625495	0.0004	0.0004	0.0004	0.0004	0.0027	0.0004	0.0003	0.0017	0.0014	9.13e-05	0.0014	0.0086	0.0002	8.131e-05	0.0027	0.0002	0.0007	4.654e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0008	0.0081	0	0	0.0032	0.0003	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002220	0.000000	0.005479	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1157.83	39	chr1	119844402	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=275;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.311;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	5	0	1	0
chr1	119935502	119935502	A	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon22:c.T3625G:p.F1209V,NOTCH2:NM_024408:exon22:c.T3625G:p.F1209V	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	138706	not_specified|Hajdu-Cheney_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.848	0.465349951855	0.0021	0.00159744	0.0033	0.0005	0.0008	0	0.0074	0.0046	0.0066	0.0017	0.0031177	482	154602	rs147223770	0.0032	0.0032	0.0031	0.0032	0.0106	0.0031	0.0031	0.0085	0.0077	0.0009	0.0017	0.0061	0	0.0080	0.0106	0.0031	0.0040	0.0021	0.0025	0.0025	0.0024	0.0026	0.0032	0.0023	0.0022	0.0029	0.0028	0.0005	0	0.0023	0.0029	0	0.0076	0.0136	0.0032	0.0033	0.0012	0.063	0.36709	T	0.041	0.50514	D	0.939	0.52645	P	0.739	0.55653	P	0.001271	0.39594	U	0.000000	1	0.81001	D	2.75	0.80375	M	-3.2	0.93231	D	-4.66	0.79482	D	0.668	0.67650	1.014	0.97432	D	0.896	0.96565	D	10	0.026755065	0.00835	T	0.46535	0.94586	D	0.848	0.95286	.	.	0.903793778874	0.90283	0.7582451934338716	0.75772	1.68776258327	0.90085	0.698752880096	0.66963	T	0.874391	0.97314	D	0.0947209	0.63717	D	0.363413	0.90829	D	0.023155564971664	0.01041	T	0.907309	0.67223	D	0.28803015	0.51809	0.37022707	0.62277	0.28803015	0.51808	0.37022707	0.62277	-12.141	0.85531	D	0.19538273485906804	0.25772	0.730	0.74211	P	.	.	4.873550	0.79859	27.2	0.99179541787431436	0.54643	0.99301	0.94181	D	AEFDBIJ	0.896379	0.83739	D	0.909377931762591	0.92211	11.29499	0.877417881226856	0.94512	12.81871	0.999999998901721	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.947000	0.92735	11.173000	0.88038	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.579	0.76157	827	0.39843	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.08333	1206.83	102	chr1	119935502	.	A	C	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.462;DP=281;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.369;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	5	0	1	0
chr1	120449255	120449255	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A841G:p.S281G	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782435187	6.094e-05	0.0002	5.67e-05	6.515e-05	0.0007	5.008e-05	4.602e-05	0.0002	9.576e-05	0	4.488e-05	0	0.0002	3.749e-05	0.0007	5.261e-05	0	0.0002	0.0002	0.0003	0.0001	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.838e-05	0	0.0012	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	123.83	47	chr1	120449255	.	A	G	123.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=511;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=40.26;MQRankSum=0.391;QD=0.55;ReadPosRankSum=-2.053;SOR=0.599	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	0
chr1	120452245	120452245	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon11:c.C1220T:p.P407L	.	461	1052	9	0	0	9	0.00425935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782202726	0.0036	0.0034	0.0038	0.0034	0.0354	0.0035	0.0035	0.0339	0.0333	0.0087	0.0354	0	0.0002	0.0079	0.0034	0.0017	0.0029	0.0049	0.0063	0.0069	0.0060	0.0066	0.0205	0.0060	0.0058	0.0185	0.0178	0.0104	0	0.0205	0	0.0010	0.0081	0.0034	0.0016	0.0047	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	153.83	19	chr1	120452245	.	C	T	153.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=146;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.21;MQRankSum=-0.257;QD=10.26;ReadPosRankSum=0.286;SOR=1.23	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,594	5	0	1	0
chr1	120465299	120465299	G	A	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon22:c.G2513A:p.G838E	.	534	986	2	0	0	2	0.00101317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-05	3.113e-05	1.872e-05	9.457e-06	2.36e-05	5.89e-06	4.25e-06	1.114e-05	8.33e-06	0	0	0	0	0	0	2.36e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	52.83	12	chr1	120465299	.	G	A	52.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.807;DP=114;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.083;MQ=28.04;MQRankSum=-2.509;QD=4.4;ReadPosRankSum=0.17;SOR=0.061	GT:AD:DP:GQ:PL	0/0:12,0:12:30:0,30,450	5	0	1	0
chr1	120816692	120816692	A	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1450T:p.N484Y	.	489	1032	1	0	0	1	0.000484262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399900446	2.367e-05	2.391e-05	1.415e-05	3.302e-05	6.521e-05	1.621e-05	1.389e-05	2.118e-05	1.799e-05	6.521e-05	0	0	0	0	0	3.045e-05	0	0	5.837e-05	6.199e-05	6.719e-05	4.877e-05	0.0002	2.206e-05	1.438e-05	3.094e-05	1.28e-05	0.0002	0	0	0	0	0	0	4.26e-05	0.0008	0	.	.	.	0.013	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.26	0.31027	-1.0576	0.12362	T	0.022	0.09375	T	9	0.15087426	0.28528	T	4.97E-4	0.00153	T	.	.	.	.	0.236278675362	0.23226	0.025965051372981777	0.02547	.	.	.	.	.	.	.	.	-0.124328	0.32417	T	-0.416365	0.31492	T	0.636818528175354	0.37902	D	0.910209	0.79065	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.50444	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.126409	0.15127	11.61	0.97463737299655195	0.34095	0.00482	0.02293	N	AEBI	0.057047	0.10596	N	-0.494765697417219	0.22251	1.186837	-0.827430153347124	0.13832	0.7196404	0.0906476229524158	0.16114	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.811	-0.724	0.10613	0.564000	0.23265	-5.371000	0.01744	0.101000	0.17621	0.001000	0.13787	0.000000	0.08366	0.366000	0.26021	0.5709:0.4291:0.0:0.0	3.474	0.07144	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.08333	471.83	47	chr1	120816692	.	A	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.247;DP=241;ExcessHet=0;FS=7.443;MLEAC=1;MLEAF=0.083;MQ=37.32;MQRankSum=-0.92;QD=12.75;ReadPosRankSum=-1.135;SOR=0.05	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,104,1773	5	0	1	0
chr1	120890093	120890093	G	T	exonic	PPIAL4A	.	nonsynonymous SNV	PPIAL4A:NM_001143883:exon1:c.G273T:p.K91N	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176793547	0.0006	0.0006	0.0005	0.0008	0.0072	0.0006	0.0006	0.0067	0.0065	7.797e-05	4.657e-05	0	0	0	0.0039	0.0002	0.0008	0.0072	0.0005	0.0005	0.0005	0.0005	0.0097	0.0004	0.0004	0.0073	0.0065	0	0	0	0	0	0	0.0037	0.0004	0.0011	0.0097	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.031648606	0.01303	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.2611384602325437	0.26026	.	.	0.585979402065	0.50927	T	0.024531	0.18515	T	-0.15127	0.28113	T	-0.455065	0.27139	T	.	.	.	0.825817	0.48860	T	0.09435018	0.22180	0.22018726	0.46785	0.09435018	0.22180	0.22018726	0.46784	-6.49	0.50209	T	.	.	0.299	0.52921	B	.	.	2.347029	0.30085	18.33	0.75911070113055878	0.11259	0.24721	0.22481	N	AEFI	0.071229	0.14172	N	.	.	.	.	.	.	1.22850741234168E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.119718	0.24596	0.386	-0.772	0.10444	3.709000	0.54582	0.189000	0.15722	0.394000	0.20511	1.000000	0.71638	0.576000	0.25597	0.493000	0.28859	0.3197:0.0:0.6803:0.0	4.495	0.11245	964	0.07719	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	.	.	.	.	.	.	.	.	0.08333	1106.83	38	chr1	120890093	.	G	T	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.127;DP=301;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.083;MQ=57.2;MQRankSum=0.662;QD=10.85;ReadPosRankSum=-0.08;SOR=0.567	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.1667	221.06	92	chr1	144435839	.	C	G	221.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.633;DP=479;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=31.42;MQRankSum=-1.912;QD=1.37;ReadPosRankSum=2.91;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:83,0:83:99:.:.:0,120,1800:.	4	0	2	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y,NBPF15:NM_001385448:exon5:c.G400T:p.D134Y,NBPF15:NM_001385405:exon6:c.G400T:p.D134Y,NBPF15:NM_001385447:exon6:c.G400T:p.D134Y,NBPF15:NM_001385410:exon7:c.G400T:p.D134Y,NBPF15:NM_001385413:exon7:c.G400T:p.D134Y,NBPF15:NM_001385416:exon7:c.G400T:p.D134Y,NBPF15:NM_001385432:exon7:c.G400T:p.D134Y,NBPF15:NM_001385438:exon7:c.G400T:p.D134Y,NBPF15:NM_001385446:exon7:c.G400T:p.D134Y,NBPF15:NM_001385407:exon8:c.G400T:p.D134Y,NBPF15:NM_001385418:exon8:c.G400T:p.D134Y,NBPF15:NM_001385424:exon8:c.G400T:p.D134Y,NBPF15:NM_001385427:exon8:c.G400T:p.D134Y,NBPF15:NM_001385439:exon8:c.G400T:p.D134Y,NBPF15:NM_001385440:exon8:c.G400T:p.D134Y,NBPF15:NM_001385443:exon8:c.G400T:p.D134Y,NBPF15:NM_001385445:exon8:c.G400T:p.D134Y,NBPF15:NM_001385376:exon9:c.G400T:p.D134Y,NBPF15:NM_001385377:exon9:c.G400T:p.D134Y,NBPF15:NM_001385403:exon9:c.G400T:p.D134Y,NBPF15:NM_001385404:exon9:c.G400T:p.D134Y,NBPF15:NM_001385409:exon9:c.G400T:p.D134Y,NBPF15:NM_001385411:exon9:c.G400T:p.D134Y,NBPF15:NM_001385414:exon9:c.G400T:p.D134Y,NBPF15:NM_001385441:exon9:c.G400T:p.D134Y,NBPF15:NM_173638:exon9:c.G400T:p.D134Y,NBPF15:NM_001385373:exon10:c.G400T:p.D134Y,NBPF15:NM_001385374:exon10:c.G400T:p.D134Y,NBPF15:NM_001385375:exon10:c.G400T:p.D134Y,NBPF15:NM_001385408:exon10:c.G400T:p.D134Y,NBPF15:NM_001385412:exon10:c.G400T:p.D134Y,NBPF15:NM_001385415:exon10:c.G400T:p.D134Y,NBPF15:NM_001385420:exon10:c.G400T:p.D134Y,NBPF15:NM_001385423:exon10:c.G400T:p.D134Y,NBPF15:NM_001385430:exon10:c.G400T:p.D134Y,NBPF15:NM_001385431:exon10:c.G400T:p.D134Y,NBPF15:NM_001385433:exon10:c.G400T:p.D134Y,NBPF15:NM_001385434:exon10:c.G400T:p.D134Y,NBPF15:NM_001385436:exon10:c.G400T:p.D134Y,NBPF15:NM_001385442:exon10:c.G400T:p.D134Y,NBPF15:NM_001385444:exon10:c.G400T:p.D134Y,NBPF15:NM_001385378:exon11:c.G400T:p.D134Y,NBPF15:NM_001385406:exon11:c.G400T:p.D134Y,NBPF15:NM_001385419:exon11:c.G400T:p.D134Y,NBPF15:NM_001385421:exon11:c.G400T:p.D134Y,NBPF15:NM_001385422:exon11:c.G400T:p.D134Y,NBPF15:NM_001385425:exon11:c.G400T:p.D134Y,NBPF15:NM_001385428:exon11:c.G400T:p.D134Y,NBPF15:NM_001385429:exon11:c.G400T:p.D134Y,NBPF15:NM_001385435:exon11:c.G400T:p.D134Y,NBPF15:NM_001385437:exon11:c.G400T:p.D134Y,NBPF15:NM_001170755:exon12:c.G400T:p.D134Y,NBPF15:NM_001385426:exon12:c.G400T:p.D134Y	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	72.83	136	chr1	144436988	.	C	A	72.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=329;ExcessHet=0;FS=46.235;MLEAC=1;MLEAF=0.083;MQ=37.93;MQRankSum=-5.561;QD=0.54;ReadPosRankSum=-0.638;SOR=5.783	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	5	0	1	0
chr1	145313948	145313948	T	C	exonic	NBPF20	.	nonsynonymous SNV	NBPF20:NM_001278267:exon111:c.A12227G:p.D4076G	.	1132	388	1	1	0	3	0.00385109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00191825624722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206851547	0.0114	0.0083	0.0098	0.0128	0.0375	0.0110	0.0109	0.0357	0.0349	0.0039	0.0065	0.0111	0	0.0084	0.0196	0.0078	0.0095	0.0375	0.0045	0.0073	0.0046	0.0045	0.0201	0.0039	0.0036	0.0119	0.0094	0.0015	0	0.0045	0.0038	0.0012	0.0073	0.0641	0.0044	0.0030	0.0201	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.15187	-1.1062	0.03417	T	0.057	0.24018	T	4	0.014809728	0.00311	T	0.029492	0.51987	D	.	.	.	.	0.0551355673512	0.04727	0.012434762134161108	0.01202	.	.	0.527425050735	0.42672	T	.	.	.	-0.168599	0.25446	T	-0.479957	0.24450	T	0.0608008378654654	0.07294	T	0.741226	0.36032	T	0.16416097	0.36605	0.5540301	0.74208	0.16416097	0.36605	0.5540301	0.74209	-11.524	0.82456	D	.	.	0.855	0.80035	P	.;.	.;.	2.104508	0.26779	17.24	0.98584901971224081	0.43297	0.00943	0.03638	N	AEFI	0.024438	0.01514	N	-0.187880539875173	0.33637	1.910686	-0.358857064188187	0.26237	1.44784	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.799000	0.26688	0.479000	0.18787	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	421	0.81399	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	46.5	2	chr1	145313948	.	T	C	46.5	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=23.51;QD=23.25;SOR=2.303	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	3
chr1	145849550	145849550	T	G	exonic	PIAS3	.	nonsynonymous SNV	PIAS3:NM_006099:exon14:c.A1783C:p.S595R	.	428	1077	17	0	0	17	0.00783049	.	.	.	696052	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.122	0.00620964201643	.	.	.	.	.	.	.	.	.	.	.	.	.	rs112103191	0.0021	0.0022	0.0013	0.0030	0.0302	0.0021	0.0021	0.0292	0.0288	0.0011	0.0002	0	0.0026	0	0.0031	0.0002	0.0029	0.0302	0.0017	0.0017	0.0012	0.0021	0.0284	0.0015	0.0014	0.0245	0.0231	0.0016	0	0.0001	0	0.0037	0	0.0034	0.0004	0	0.0284	0.002	0.72154	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.22	0.37052	T	-1.16	0.29933	N	0.215	0.29081	.	.	.	.	.	.	.	0.008715093	0.00197	T	.	.	.	.	.	.	.	.	.	0.8568605351980342	0.85649	.	.	.	.	.	0.120515	0.44281	T	.	.	.	.	.	.	.	.	.	0.852015	0.53695	D	.	.	.	.	.	.	.	.	-5.021	0.37067	T	.	.	0.946	0.86484	P	.;.	.;.	4.524755	0.70976	25.6	.	.	.	.	.	.	0.762665	0.70000	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.443000	0.59736	6.029000	0.52897	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1179.83	103	chr1	145849550	.	T	G	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.704;DP=282;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.19;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	5	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	39.3	88	chr1	145872713	.	C	G	39.3	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.177;DP=467;ExcessHet=0;FS=72.524;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=-0.453;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:79,0:79:0:.:.:0,0,1430:.	2	0	1	3
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	37.68	82	chr1	145872714	.	C	G	37.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-5.031;DP=472;ExcessHet=0;FS=72.524;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=-0.472;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:79,0:79:0:.:.:0,0,1430:.	3	0	1	2
chr1	145892821	145892821	T	C	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon26:c.A3052G:p.R1018G,ITGA10:NM_001303040:exon27:c.A3088G:p.R1030G,ITGA10:NM_003637:exon30:c.A3481G:p.R1161G	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75496347	0.0057	0.0058	0.0058	0.0057	0.0068	0.0056	0.0056	0.0067	0.0066	0.0009	0.0058	0.0049	0	0.0005	0.0016	0.0068	0.0059	0.0002	0.0041	0.0041	0.0045	0.0038	0.0080	0.0039	0.0038	0.0069	0.0064	0.0012	0	0.0080	0.0032	0.0002	0.0002	0	0.0062	0.0095	0	0.337	0.13175	T	0.351	0.17425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	0.57261	T	-0.8	0.22078	N	0.186	0.22228	.	.	.	.	.	.	.	0.01892227	0.00417	T	.	.	.	.	.	.	.	.	.	0.7888511935892639	0.78837	.	.	.	.	.	0.079895	0.36236	T	.	.	.	.	.	.	.	.	.	0.715628	0.32820	T	.	.	.	.	.	.	.	.	-2.33	0.04722	T	.	.	0.069	0.06433	B	.;.	.;.	1.383632	0.17953	13.46	.	.	.	.	.	.	0.249568	0.36977	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545000	0.22976	1.837000	0.29159	-0.155000	0.11859	0.640000	0.28085	0.335000	0.24393	0.812000	0.38265	.	.	.	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	558.83	33	chr1	145892821	.	T	C	558.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.369;DP=232;ExcessHet=0;FS=1.119;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.764;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1090	5	0	1	0
chr1	146121618	146121618	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon20:c.C2638G:p.L880V,NBPF10:NM_001302371:exon20:c.C2638G:p.L880V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.595e-05	0.0002	3.653e-05	3.545e-05	0.0003	2.289e-05	1.789e-05	0.0002	0.0001	8.239e-05	4.779e-05	0	0	0	0	0	0	0.0003	1.593e-05	3.333e-05	1.534e-05	1.658e-05	0.0003	2.65e-06	9.9e-07	.	.	0	0	0	0	0	0	0	1.635e-05	0	0.0003	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.49	0.14531	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.12651056	0.24052	T	.	.	.	.	.	.	.	0.236278675362	0.23226	0.003398250632441643	0.00317	.	.	.	.	.	.	.	.	-0.203238	0.20338	T	-0.529714	0.19315	T	0.192699611186981	0.20002	T	0.720728	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.48787	B	.	.	1.492274	0.19196	14.14	0.99360472442464853	0.60987	0.03659	0.08916	N	AEFI	0.039261	0.05677	N	-0.573426320466201	0.19755	1.036392	-0.754957550516159	0.15601	0.8213083	1.40482136050046E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	0.046323	0.05263	0.533	0.533	0.16315	0.999000	0.29358	-1.724000	0.04844	0.319000	0.19345	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.08333	43.87	4	chr1	146121618	.	G	C	43.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=50;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.22;MQRankSum=-0.431;QD=10.97;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,230	5	0	1	0
chr1	146972879	146972879	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.A1720G:p.K574E	.	427	1073	20	2	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00499201	0.0046	0.0009	0.0019	0.0019	0.0004	0.0040	0.0095	0.0126	0.0032535	503	154602	rs587713092	0.0030	0.0028	0.0027	0.0034	0.0107	0.0029	0.0029	0.0081	0.0078	0.0006	0.0010	0.0118	0.0005	0.0003	0.0107	0.0026	0.0041	0.0085	0.0022	0.0022	0.0022	0.0022	0.0090	0.0020	0.0019	0.0069	0.0061	0.0004	0.0077	0.0032	0.0098	0.0006	0.0003	0.0068	0.0025	0.0038	0.0090	.	.	.	0.803	0.04029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.104	0.12770	-0.9100	0.46854	T	0.003	0.01059	T	6	0.0058377385	0.00130	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.011847358659128697	0.01144	.	.	.	.	.	.	.	.	-0.131731	0.31217	T	-0.426999	0.30276	T	0.00499942962845069	0.00054	T	0.662034	0.28021	T	0.08749157	0.20374	0.09260015	0.21830	0.08749157	0.20374	0.09260015	0.21830	-5.829	0.44826	T	.	.	0.202	0.57987	B	.;.;.;.;.	.;.;.;.;.	0.990383	0.13680	10.22	0.94131061147928841	0.24314	0.00402	0.02007	N	AEFI	0.042461	0.06590	N	-0.760218732338179	0.14357	0.7145113	-1.00286275451666	0.09722	0.4853356	1.1612182184111E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.962	-0.645	0.10899	0.698000	0.25249	-0.773000	0.07487	-0.741000	0.03665	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5814:0.4186:0.0:0.0	3.593	0.07543	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	4088.06	34	chr1	146972879	.	A	G	4088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.23;DP=458;ExcessHet=0.4139;FS=1.871;MLEAC=2;MLEAF=0.167;MQ=52.69;MQRankSum=1.02;QD=13.1;ReadPosRankSum=1.05;SOR=0.823	GT:AD:DP:GQ:PL	0/1:71,76:147:99:2043,0,1822	4	0	2	0
chr1	146989596	146989596	G	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon31:c.G3421C:p.E1141Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00019479305758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1376410348	4.874e-06	5.616e-05	5.553e-06	4.191e-06	0.0001	2.03e-06	1.3e-06	4.137e-05	2.41e-05	0.0001	0	0	0	0	0	1.837e-06	1.683e-05	0	0.0001	0.0008	0.0001	0.0001	0.0004	8.172e-05	6.728e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.09	0.06854	-0.9071	0.47203	T	0.004	0.01365	T	6	0.09196934	0.16154	T	2.74E-4	0.00015	T	.	.	.	.	0.117506650769	0.11410	0.005966176741918117	0.00565	.	.	.	.	.	.	.	.	-0.295149	0.09126	T	-0.661737	0.08150	T	0.0357395005678449	0.02936	T	0.955004	0.82846	D	0.059538495	0.12114	0.05857513	0.10846	0.059538495	0.12113	0.05857513	0.10846	-9.992	0.73864	D	.	.	0.168	0.38372	B	.;.	.;.	0.632620	0.10012	6.763	0.8201166342282673	0.13973	0.01224	0.04337	N	AEFI	0.032725	0.03749	N	-0.712481410423978	0.15671	0.7917754	-0.929845150791823	0.11392	0.5800693	1.5734709534102E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.725	0.725	0.17395	-1.001000	0.03800	-1.149000	0.06186	.	.	0.000000	0.06391	0.000000	0.08366	.	.	0.0:0.0:1.0:0.0	4.807	0.12693	783	0.47268	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	47.83	37	chr1	146989596	.	G	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.359;DP=705;ExcessHet=0;FS=3.728;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-0.955;QD=0.27;ReadPosRankSum=0.378;SOR=1.263	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	77.07	8	chr1	148533164	.	G	C	77.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.385;DP=41;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.12;MQRankSum=-0.598;QD=12.84;ReadPosRankSum=0.598;SOR=0.991	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,118	5	0	1	0
chr1	148566169	148566169	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon24:c.A3182T:p.H1061L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0282704498932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.433e-06	7.884e-06	4.805e-06	4.114e-06	7.481e-06	7.4e-07	2.8e-07	1.24e-06	4.7e-07	0	0	0	0	0	0	7.481e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.16168	.	.	.	.	.	.	.	0.09701505	0.17442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253675	0.03893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.76773	P	.;.	.;.	0.525462	0.08943	5.723	.	.	.	.	.	.	0.028914	0.02634	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666000	0.24779	-0.541000	0.08582	0.161000	0.17719	0.988000	0.36536	0.000000	0.08366	0.005000	0.06747	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	52.89	7	chr1	148566169	.	T	A	52.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=50;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.52;MQRankSum=0.366;QD=7.56;ReadPosRankSum=1.98;SOR=0.223	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,386	5	0	1	0
chr1	148566185	148566185	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon24:c.G3166C:p.A1056P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.015627169279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.22998	.	.	.	.	.	.	.	0.14950895	0.28293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894111	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.941	0.86011	P	.;.	.;.	0.984565	0.13624	10.15	.	.	.	.	.	.	0.052268	0.09315	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.680000	0.02040	-15.955000	0.00333	-1.793000	0.00635	0.979000	0.35152	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	329.19	12	chr1	148566185	.	C	G	329.19	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.999;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=39.14;MQRankSum=0.826;QD=13.72;ReadPosRankSum=1.29;SOR=0.43	GT:AD:DP:GQ:PL	0/1:10,2:12:47:47,0,362	4	0	2	0
chr1	148590774	148590774	G	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.C761T:p.A254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457500340	0.0041	0.0067	0.0043	0.0038	0.0100	0.0039	0.0039	0.0090	0.0086	0.0007	0.0016	0.0008	0.0100	0.0056	0	0.0043	0.0035	0.0018	0.0040	0.0055	0.0037	0.0043	0.0163	0.0036	0.0034	0.0127	0.0114	0.0008	0.0161	0.0016	0.0038	0.0163	0.0100	0	0.0042	0.0055	0.0042	.	.	.	0.03	0.58089	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.13	0.02865	T	.	.	.	0.143	0.15469	.	.	.	.	.	.	.	0.08741337	0.14955	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634137	0.24845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.39203	B	.;.;.;.;.	.;.;.;.;.	1.220223	0.16140	12.34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.450000	0.06877	-4.653000	0.02050	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	43.97	15	chr1	148590774	.	G	A	43.97	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.1;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=23.79;MQRankSum=-1.016;QD=4.89;ReadPosRankSum=1.28;SOR=0.283	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,230	5	0	1	0
chr1	149012635	149012635	G	T	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon28:c.G5611T:p.A1871S,PDE4DIP:NM_001198834:exon32:c.G5125T:p.A1709S,PDE4DIP:NM_014644:exon32:c.G5125T:p.A1709S,PDE4DIP:NM_001350521:exon35:c.G5536T:p.A1846S,PDE4DIP:NM_001350522:exon35:c.G5323T:p.A1775S,PDE4DIP:NM_001377392:exon35:c.G5536T:p.A1846S,PDE4DIP:NM_001377393:exon35:c.G4993T:p.A1665S	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00321588607918	.	.	8.239e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs140487163	0.0032	0.0032	0.0026	0.0038	0.0275	0.0031	0.0031	0.0266	0.0262	0.0144	0.0016	0.0023	0.0064	0.0033	0.0030	0.0008	0.0063	0.0275	0.0062	0.0062	0.0056	0.0067	0.0287	0.0058	0.0057	0.0248	0.0233	0.0146	0	0.0029	0.0020	0.0095	0.0033	0.0068	0.0006	0.0076	0.0287	0.676	0.04482	T	0.854	0.03806	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	0.01430	T	-0.11	0.08653	N	0.353	0.39457	.	.	.	.	.	.	.	0.0075792074	0.00172	T	.	.	.	.	.	.	.	.	.	0.3445266596623513	0.34365	.	.	.	.	.	0.013586	0.16455	T	.	.	.	.	.	.	.	.	.	0.770923	0.40135	T	.	.	.	.	.	.	.	.	-2.362	0.05276	T	.	.	0.089	0.16494	B	.;.;.;.	.;.;.;.	2.412152	0.31007	18.61	.	.	.	.	.	.	0.291401	0.40254	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713000	0.25464	1.842000	0.29195	0.594000	0.32500	0.976000	0.34826	1.000000	0.68203	0.318000	0.24924	.	.	.	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1037.83	66	chr1	149012635	.	G	T	1037.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.875;DP=246;ExcessHet=0;FS=3.458;MLEAC=1;MLEAF=0.083;MQ=55.34;MQRankSum=1.03;QD=15.72;ReadPosRankSum=-0.3;SOR=0.373	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1318	5	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:420,51:471:99:206,0,11101	0	0	6	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	281.06	37	chr1	149476000	.	C	A	281.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.47;DP=513;ExcessHet=0.4139;FS=46.526;MLEAC=2;MLEAF=0.167;MQ=31.82;MQRankSum=-2.617;QD=0.91;ReadPosRankSum=-2.349;SOR=5.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,16:147:99:0|1:149475995_C_T:260,0,5358:149475995	4	0	2	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	292.06	37	chr1	149476006	.	G	A	292.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.56;DP=538;ExcessHet=0.4139;FS=30.891;MLEAC=2;MLEAF=0.167;MQ=32.15;MQRankSum=-2.299;QD=0.92;ReadPosRankSum=-2.808;SOR=3.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,17:154:99:0|1:149475995_C_T:249,0,5491:149475995	4	0	2	0
chr1	149584007	149584007	G	A	exonic	PPIAL4C	.	nonsynonymous SNV	PPIAL4C:NM_001135789:exon1:c.G110A:p.R37H	.	488	1001	29	4	0	37	0.0181462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209392785	0.0086	0.0090	0.0085	0.0087	0.0145	0.0084	0.0083	0.0106	0.0099	0.0018	0.0070	0.0169	9.422e-05	0.0039	0.0145	0.0103	0.0087	0.0070	0.0070	0.0071	0.0073	0.0067	0.0107	0.0066	0.0065	0.0100	0.0097	0.0014	0.0024	0.0074	0.0143	0.0002	0.0018	0.0231	0.0107	0.0120	0.0050	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.23486	T	.	.	.	0.218	0.24385	.	.	.	.	.	.	.	0.018166542	0.00393	T	.	.	.	.	.	.	.	0.219573609325	0.21563	0.32605712726361036	0.32518	.	.	0.53084218502	0.43153	T	0.092793	0.39078	T	0.0686114	0.60679	T	-0.139221	0.60185	T	.	.	.	0.234777	0.03226	T	0.046832833	0.07904	0.11937177	0.28813	0.046832833	0.07904	0.11937177	0.28812	-5.919	0.45596	T	.	.	0.111	0.21466	B	.	.	1.028578	0.14083	10.66	0.67423224367540469	0.08350	0.67005	0.33277	D	AEFI	.	.	.	.	.	.	.	.	.	0.00176460587516392	0.08861	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.619667	0.41142	0.386	0.386	0.15477	4.040000	0.57044	-2.912000	0.03237	0.408000	0.20627	1.000000	0.71638	0.000000	0.08366	0.839000	0.39591	2.0E-4:0.0:0.9998:0.0	6.584	0.21804	784	0.47045	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	.	.	.	.	.	.	.	.	0.08333	734.83	49	chr1	149584007	.	G	A	734.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=195;ExcessHet=0;FS=2.904;MLEAC=1;MLEAF=0.083;MQ=28.3;MQRankSum=-1.974;QD=15;ReadPosRankSum=1.46;SOR=1.27	GT:AD:DP:GQ:PL	0/0:32,0:32:87:0,87,1305	5	0	1	0
chr1	149930961	149930961	G	A	exonic	MTMR11	.	nonsynonymous SNV	MTMR11:NM_181873:exon13:c.C1079T:p.P360L,MTMR11:NM_001145862:exon14:c.C1295T:p.P432L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.181441812018	0.0002	.	9.394e-05	0	0	0	0	0.0002	0	7.751e-05	8.41e-05	13	154602	rs145144126	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.241e-05	2.522e-05	3.984e-05	0	0	0	0.0003	0.0002	4.809e-05	0.0001	0.0001	7.713e-05	0.0001	0.0002	6.518e-05	5.328e-05	0.0001	8.878e-05	4.832e-05	0	6.557e-05	0	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	1	0.81001	D	3.725	0.94815	H	-4.59	0.97830	D	-7.98	0.96395	D	0.965	0.97535	-0.3786	0.72695	T	0.285	0.65715	T	10	0.95867443	0.95252	D	0.181442	0.85556	D	0.969	0.99622	.	.	0.846503013873	0.84503	0.8339606682179646	0.83355	0.724763160997	0.62413	0.697721481323	0.66815	T	0.83867	0.96217	D	0.376072	0.88455	D	0.598617	0.96981	D	0.989259600639343	0.79502	D	0.941806	0.79148	D	0.8556804	0.87758	0.778134	0.86915	0.8556804	0.87760	0.778134	0.86916	-10.878	0.78984	D	.	.	0.67	0.71734	P	.;.	.;.	5.561439	0.92141	32	0.99892067530536399	0.96589	0.97802	0.77240	D	AEFBI	0.948096	0.95935	D	0.696612190467799	0.79409	7.071807	0.701032097777204	0.82458	7.771721	0.999999999997024	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.16	5.16	0.70563	8.626000	0.90739	11.859000	0.98275	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	17.381	0.87294	212	0.91760	.;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2216.06	33	chr1	149930961	.	G	A	2216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.65;DP=311;ExcessHet=0.4139;FS=1.213;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.047;SOR=0.588	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1226,0,935	4	0	2	0
chr1	150497648	150497648	C	A	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon6:c.C749A:p.P250H,TARS2:NM_001271895:exon8:c.C893A:p.P298H,TARS2:NM_025150:exon10:c.C1139A:p.P380H	.	431	1088	3	0	0	3	0.00137678	.	.	.	1363700	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0845994468298	.	0.000199681	0.0001	0	8.657e-05	0	0	7.502e-05	0	0.0007	0.0001294	20	154602	rs587721894	8.619e-05	8.619e-05	7.759e-05	9.488e-05	0.0006	7.353e-05	6.903e-05	0.0004	0.0004	2.987e-05	6.708e-05	3.826e-05	0	0	0.0005	5.575e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	8.662e-05	7.254e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0	0.0001	0	0.0006	0.126	0.78490	T	0.181	0.52060	T	0.808	0.45299	P	0.8	0.58175	P	0.003238	0.35241	N	0.283792	1	0.81001	D	1.23	0.30720	L	-0.24	0.66834	T	-2.29	0.55983	N	0.377	0.42345	-0.5007	0.68625	T	0.206	0.56444	T	10	0.1548107	0.29193	T	0.084599	0.74360	D	0.201	0.48592	.	.	0.853399124583	0.85198	0.5936698327835616	0.59296	1.21200435668	0.80862	0.281450033188	0.07695	T	0.021994	0.27163	T	-0.254745	0.13523	T	-0.281734	0.46626	T	0.111797794699669	0.13608	T	0.830817	0.49719	T	0.20195986	0.42224	0.22463775	0.47382	0.20195986	0.42224	0.22463775	0.47381	-6.751	0.55078	T	0.09829558216546493	0.07013	0.121	0.24967	B	.;.;.;.	.;.;.;.	3.301499	0.45322	22.1	0.9930505711510057	0.58795	0.73158	0.35789	D	AEFDBI	0.296632	0.40643	N	0.0504239592432192	0.44163	2.695325	0.0138400890027105	0.40356	2.407172	0.00654499659430083	0.11246	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.62	0.56946	1.047000	0.29976	3.270000	0.37153	0.596000	0.33519	0.183000	0.24101	0.173000	0.23359	0.947000	0.49155	0.0:0.8555:0.1445:0.0	14.685	0.68655	154	0.93967	Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core 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	.	.	.	.	.	.	.	.	0.1667	2285.06	35	chr1	150497648	.	C	A	2285.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.48;DP=366;ExcessHet=0.4139;FS=0.499;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.15;SOR=0.665	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1321,0,1298	4	0	2	0
chr1	150560149	150560149	C	G	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon19:c.C3178G:p.R1060G,ADAMTSL4:NM_019032:exon19:c.C3178G:p.R1060G,ADAMTSL4:NM_001288607:exon20:c.C3061G:p.R1021G,ADAMTSL4:NM_001288608:exon20:c.C3247G:p.R1083G	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1490	31	1	0	33	0.0109525	.	.	.	862249	Ectopia_lentis_2,_isolated,_autosomal_recessive|not_provided|ADAMTSL4-related_disorder|Ectopia_lentis_et_pupillae	MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MedGen:C3661900|.|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	0.0152506501591	7.7e-05	0.00119808	0.0015	9.636e-05	0.0003	0	0	0.0003	0.0033	0.0098	0.0012678	196	154602	rs145169593	0.0008	0.0008	0.0005	0.0011	0.0100	0.0007	0.0007	0.0095	0.0092	8.961e-05	0.0004	0	0	0	0.0062	0.0001	0.0011	0.0100	0.0004	0.0004	0.0003	0.0005	0.0075	0.0003	0.0003	0.0055	0.0049	0	0	0.0004	0	0	0	0.0068	0.0002	0	0.0075	0.333	0.25664	T	0.348	0.17585	T	0.983	0.60381	D	0.81	0.58608	P	.	.	.	.	0.983778	0.41101	D	1.04	0.26193	L	0.8	0.48769	T	-1.37	0.33998	N	0.475	0.51048	-1.0525	0.13709	T	0.093	0.35390	T	9	0.009818703	0.00220	T	0.015251	0.35873	T	0.147	0.38986	.	.	0.747301130288	0.74502	0.4603589343015068	0.45953	0.626178110683	0.56761	0.498900681734	0.38675	T	0.005225	0.04667	T	-0.386707	0.02824	T	-0.321005	0.42465	T	0.0347608342809581	0.02768	T	0.840116	0.51512	T	0.41304556	0.61626	0.22383976	0.47276	0.45617345	0.64432	0.2130679	0.45801	-6.825	0.52996	T	0.3514189723817876	0.44859	0.310	0.53876	B	.;.;.	.;.;.	4.078678	0.60652	24.2	0.99735045718022863	0.83047	0.59621	0.30966	D	ALL	0.444913	0.50161	N	0.410278366563522	0.61986	4.407526	0.46643986756593	0.65781	4.867134	1.0	0.98316	0.789315	0.99827	0	0.374146	0.05931	1	0.768056	0.98339	0	0.607083	0.38531	0	.	.	5.26	5.26	0.73479	3.305000	0.51580	4.858000	0.45442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9072:0.0:0.0928	9.898	0.40501	114	0.95383	PLAC|PLAC;.;PLAC|PLAC	.	.	.	.	.	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	0.004028	0.005051	0.002717	0.002924	0.000000	0.008621	0.000000	0.011364	0.08333	1298.83	34	chr1	150560149	.	C	G	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=271;ExcessHet=0;FS=3.851;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.179;SOR=0.539	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1405	5	0	1	0
chr1	151288634	151288634	A	G	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon3:c.A2222G:p.N741S,ZNF687:NM_020832:exon3:c.A2222G:p.N741S,ZNF687:NM_001304763:exon4:c.A2222G:p.N741S	Paget disease of bone 6, Autosomal dominant	425	1095	2	0	0	2	0.000912409	.	.	.	3852573	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00600689636148	.	.	0.0002	0	0	0	0	3.001e-05	0	0.0015	0.0001682	26	154602	rs781593158	9.577e-05	9.577e-05	5.037e-05	0.0001	0.0015	8.242e-05	7.783e-05	0.0013	0.0012	0	0	0	0	0	0	3.597e-06	6.623e-05	0.0015	1.314e-05	1.312e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.649	0.04864	T	0.699	0.05747	T	0.11	0.26188	B	0.059	0.26602	B	0.001646	0.38382	N	0.000000	0.709645	0.33505	D	0.29	0.10111	N	5.32	0.01079	T	-0.35	0.12847	N	0.256	0.29313	-0.9933	0.31749	T	0.012	0.04605	T	10	0.02531293	0.00729	T	0.006007	0.15698	T	0.038	0.09825	0.311	0.28451	0.239312915715	0.23560	0.13182278672691514	0.13107	0.255294500027	0.28121	0.500603556633	0.38912	T	0.013542	0.11696	T	-0.638889	0.00085	T	-0.725874	0.04516	T	0.0518397229361626	0.05820	T	0.846115	0.52582	T	0.0360545	0.04362	0.0399554	0.04207	0.0360545	0.04362	0.0399554	0.04206	-4.223	0.27083	T	.	.	0.112	0.22098	B	.;.	.;.	2.127373	0.27080	17.34	0.99160820442368225	0.54099	0.56297	0.30081	D	AEFDGBCI	0.247716	0.36824	N	-0.380202072200446	0.26176	1.426563	-0.274715769795063	0.28934	1.617123	0.999195674239184	0.38711	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.25	2.91	0.32903	0.279000	0.18532	8.080000	0.76477	0.756000	0.94297	0.104000	0.22875	1.000000	0.68203	0.999000	0.91618	0.7866:0.0:0.0761:0.1372	6.624	0.22011	91	0.96221	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2408.83	150	chr1	151288634	.	A	G	2408.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=325;ExcessHet=0;FS=2.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.42;SOR=0.902	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	5	0	1	0
chr1	151518550	151518550	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C31T:p.R11W	.	437	1061	24	0	0	24	0.0111836	.	.	.	731726	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0478829997555	0.0018	0.000599042	0.0028	0.0002	0.0069	0.0001	0	0.0035	0.0067	0.0011	0.0024838	384	154602	rs144766457	0.0017	0.0017	0.0017	0.0018	0.0191	0.0017	0.0016	0.0162	0.0151	0.0005	0.0044	0.0298	7.58e-05	0	0.0191	0.0010	0.0040	0.0010	0.0020	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0024	0.0022	0.0003	0	0.0031	0.0335	0	0	0.0136	0.0015	0.0057	0.0004	0.031	0.47320	D	0.005	0.72224	D	.	.	.	.	.	.	0.006353	0.32094	N	0.330224	0.999953	0.19072	N	.	.	.	0.76	0.66474	T	-2.57	0.55501	D	0.37	0.41162	-0.8191	0.53990	T	0.230	0.59595	T	10	0.0065971613	0.00149	T	0.047883	0.63125	D	0.136	0.36778	.	.	0.540243489925	0.53678	0.18238191413688404	0.18157	0.637029871856	0.57456	0.450696766376	0.32039	T	0.042694	0.26264	T	-0.366999	0.03748	T	-0.294254	0.45329	T	0.0707966587591974	0.08761	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.41708	B	.;.;.;.	.;.;.;.	3.995823	0.58848	24.0	0.99872361705083901	0.94989	0.76947	0.37782	D	AEFBI	0.343454	0.43926	N	0.130253672131267	0.47878	3.007467	0.0656810671519602	0.42836	2.598033	0.00726268339345058	0.11424	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.95	1.95	0.25130	0.370000	0.20166	1.017000	0.23376	-0.835000	0.02838	0.888000	0.31154	0.745000	0.26509	0.701000	0.34172	0.269:0.6555:0.0:0.0755	8.184	0.30491	412	0.82007	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019637	0.025253	0.028533	0.029240	0.000000	0.017241	0.003049	0.003788	0.08333	1207.83	39	chr1	151518550	.	C	T	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.93;DP=265;ExcessHet=0;FS=7.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.903;SOR=1.508	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1149	5	0	1	0
chr1	151767199	151767199	G	A	exonic	OAZ3	.	unknown	UNKNOWN	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0005	0	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs537747674	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0	0.0002	0.0007	0	0	0.0017	0.0002	0.0002	2.319e-05	9.85e-05	9.843e-05	7.71e-05	0.0001	0.0002	6.003e-05	4.877e-05	7.909e-05	5.994e-05	0	0	0.0002	0.0006	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	756.83	39	chr1	151767199	.	G	A	756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.641;DP=237;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.144;SOR=1.017	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1450	5	0	1	0
chr1	151814975	151814975	C	T	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon4:c.G686A:p.S229N,RORC:NM_005060:exon5:c.G749A:p.S250N	Immunodeficiency 42, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	.	447201	Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_provided	MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.035382658425	0.0034	0.00239617	0.0035	0.0008	0.0042	0	0.0009	0.0052	0.0011	0.0010	0.0035769	553	154602	rs41263732	0.0045	0.0045	0.0046	0.0044	0.0062	0.0044	0.0044	0.0053	0.0052	0.0011	0.0050	0.0010	0	0.0009	0.0062	0.0054	0.0035	0.0007	0.0036	0.0036	0.0037	0.0035	0.0077	0.0034	0.0033	0.0066	0.0062	0.0008	0	0.0077	0.0009	0	0.0005	0	0.0056	0.0043	0.0010	0.319	0.13610	T	0.562	0.09052	T	0.0	0.02946	B	0.002	0.06944	B	0.491828	0.12048	U	0.708276	0.985251	0.27394	N	0.4	0.12274	N	-3.44	0.94469	D	-0.55	0.16799	N	0.107	0.12770	-0.6230	0.63864	T	0.463	0.79229	T	10	0.006422162	0.00145	T	0.035383	0.56311	D	0.178	0.44724	.	.	0.0675242888579	0.06100	0.2991254456685456	0.29825	0.502364597642	0.48596	0.319736391306	0.13381	T	0.046419	0.27419	T	-0.406512	0.02097	T	-0.352698	0.38896	T	0.00503885002551602	0.00054	T	0.593441	0.21910	T	0.050329994	0.09075	0.043403666	0.05390	0.043574948	0.06814	0.05565613	0.09803	-5.559	0.42847	T	.	.	0.086	0.10497	B	.;.	.;.	1.781456	0.22647	15.71	0.91852323807667569	0.21165	0.47943	0.28096	N	AEFGBI	0.331338	0.43109	N	-0.612297205863135	0.18573	0.9653918	-0.569535625930826	0.20289	1.092451	0.999905428536492	0.45458	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.35	-0.194	0.12590	0.329000	0.19442	0.591000	0.19822	0.599000	0.40250	0.960000	0.33603	0.178000	0.23398	0.923000	0.45890	0.1583:0.5105:0.1396:0.1916	2.431	0.04199	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.000000	0.009511	0.011696	0.000000	0.025862	0.006098	0.007576	0.1667	2227.06	36	chr1	151814975	.	C	T	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.633;DP=331;ExcessHet=0.4139;FS=4.448;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.8;SOR=0.428	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1108,0,990	4	0	2	0
chr1	152080329	152080329	G	A	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.C479T:p.T160M	.	413	1106	2	1	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987115451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.203e-05	9.195e-05	0.0001	6.729e-05	0.0003	5.53e-05	4.367e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3015.06	39	chr1	152080329	.	G	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.31;DP=371;ExcessHet=0.4139;FS=3.083;MLEAC=2;MLEAF=0.167;MQ=55.5;MQRankSum=1.75;QD=14.29;ReadPosRankSum=-0.748;SOR=0.905	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1538,0,1165	4	0	2	0
chr1	152109147	152109147	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4070G:p.E1357G	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00199687680997	0.0014	0.000599042	0.0015	0.0004	0.0027	0	0	0.0016	0.0089	0.0016	0.0012936	200	154602	rs187205661	0.0010	0.0010	0.0009	0.0011	0.0120	0.0009	0.0009	0.0097	0.0089	0.0002	0.0025	0.0052	0	0.0001	0.0120	0.0008	0.0020	0.0014	0.0011	0.0011	0.0011	0.0010	0.0031	0.0009	0.0009	0.0024	0.0021	0.0001	0	0.0031	0.0063	0	9.407e-05	0.0136	0.0011	0.0028	0.0010	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	1	0.08975	N	2.605	0.76211	M	3.02	0.08986	T	-2.09	0.47683	N	0.17	0.18376	-1.0393	0.17526	T	0.020	0.08266	T	9	0.006308019	0.00142	T	0.001997	0.03615	T	0.070	0.20419	.	.	0.540153309661	0.53666	0.029142579865045516	0.02863	0.310527836263	0.33367	0.276593744755	0.07023	T	0.003272	0.02677	T	-0.522414	0.00426	T	-0.517497	0.20548	T	0.0236382078003124	0.01101	T	0.381062	0.09207	T	0.05759065	0.11479	0.115004845	0.27761	0.07775522	0.17667	0.08821971	0.20556	-8.197	0.62405	D	.	.	0.368	0.58715	A	.;.	.;.	2.059286	0.26183	17.03	0.94218210039858263	0.24465	0.13547	0.17918	N	AEFDBCI	0.108189	0.21531	N	-0.261898997275469	0.30631	1.709767	-0.492664172177704	0.22355	1.213806	0.999993752611818	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.08	1.62	0.22817	0.304000	0.18983	.	.	-0.160000	0.11618	0.000000	0.06391	.	.	0.351000	0.25682	0.1863:0.2139:0.0:0.5998	2.865	0.05254	478	0.77585	.;.	.	.	.	.	.	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	0.013595	0.010101	0.020380	0.014620	0.150000	0.000000	0.006098	0.007576	0.08333	1680.83	86	chr1	152109147	.	T	C	1680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=689;ExcessHet=0;FS=1.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.83;SOR=0.851	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	5	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,55:380:99:0|1:152214821_T_A:1186,0,13290:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,55:380:99:0|1:152214821_T_A:1186,0,13290:152214821	1	0	5	0
chr1	152218397	152218397	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C3232T:p.Q1078X	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00159744	0.0036	0.0005	0.0007	0	0.0005	0.0047	0.0033	0.0060	0.0014984	39	26028	rs141950802	0.0034	0.0034	0.0031	0.0037	0.0094	0.0033	0.0033	0.0074	0.0067	0.0004	0.0008	0.0036	0	0.0014	0.0094	0.0035	0.0032	0.0071	0.0026	0.0026	0.0026	0.0026	0.0054	0.0024	0.0023	0.0039	0.0038	0.0004	0	0.0018	0.0029	0	0.0012	0.0034	0.0043	0.0024	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.06482	0.42151	T	0.137282	0.79368	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.101786	0.85249	28.5	0.99385951462662214	0.62113	0.08462	0.14388	N	AEFBI	0.044918	0.07286	N	-0.0410974056872576	0.40002	2.368183	-0.404991771498519	0.24850	1.363145	1.5712663776471E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.68	1.55	0.22356	-0.097000	0.11010	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.0:0.5093:0.3772	4.480	0.11177	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	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	0.005814	0.005051	0.001359	0.008197	0.000000	0.000000	0.015244	0.007576	0.08333	3431.83	110	chr1	152218397	.	G	A	3431.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.354;DP=1013;ExcessHet=0;FS=2.571;MLEAC=1;MLEAF=0.083;MQ=42.51;MQRankSum=-2.489;QD=7.09;ReadPosRankSum=-0.65;SOR=0.669	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	5	0	1	0
chr1	152218574	152218574	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3055A:p.G1019R	.	416	1072	34	0	0	34	0.0156107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	0.00339457	0.0024	0.0003	0.0009	0.0003	0.0008	0.0006	0.0055	0.0141	0.0021086	326	154602	rs150117899	0.0013	0.0013	0.0009	0.0017	0.0232	0.0012	0.0012	0.0200	0.0188	0.0004	0.0005	0.0003	7.56e-05	0.0003	0.0232	0.0004	0.0019	0.0132	0.0009	0.0009	0.0007	0.0010	0.0133	0.0007	0.0007	0.0107	0.0098	0.0002	0	0.0002	0	0.0002	0	0.0170	0.0006	0.0024	0.0133	0.113	0.28772	T	0.078	0.42261	T	0.546	0.38028	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	4.58	0.01901	T	-1.73	0.41046	N	0.053	0.02462	-0.9355	0.43318	T	0.001	0.00438	T	9	0.003388822	0.00059	T	.	.	.	0.011	0.01250	0.278	0.23164	0.350307294319	0.34646	0.0024863189592469093	0.00230	.	.	0.580455064774	0.50149	T	0.031719	0.22169	T	-0.706007	0.00034	T	-0.775875	0.02580	T	0.00664501759776044	0.00074	T	0.321768	0.06536	T	0.045579843	0.07485	0.07004887	0.14837	0.045579843	0.07484	0.07004887	0.14836	-5.706	0.43747	T	.	.	0.140	0.30608	B	.	.	-0.214648	0.03016	0.459	0.58679292666945504	0.06048	0.01260	0.04422	N	AEFBI	0.029677	0.02845	N	-1.11917760657677	0.06302	0.2897489	-1.20590993068046	0.05814	0.2781021	1.35723934429664E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	1.04	0.19220	-1.303000	0.02852	.	.	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7071:0.0:0.2929	5.238	0.14774	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012698	0.005051	0.008152	0.032787	0.000000	0.017241	0.006098	0.015152	0.08333	5453.83	396	chr1	152218574	.	C	T	5453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=1039;ExcessHet=0;FS=1.175;MLEAC=1;MLEAF=0.083;MQ=59.8;MQRankSum=-1.292;QD=13.77;ReadPosRankSum=0.439;SOR=0.695	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	5	0	1	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	1658.67	378	chr1	152219783	.	T	C	1658.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=7.5;DP=2775;ExcessHet=1.383;FS=32.44;MLEAC=3;MLEAF=0.3;MQ=51.93;MQRankSum=-9.252;QD=1.26;ReadPosRankSum=-6.399;SOR=3.92	GT:AD:DP:GQ:PL	0/1:397,64:461:99:826,0,11236	2	0	3	1
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	483.83	69	chr1	152306286	.	A	C	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.089;DP=1043;ExcessHet=0;FS=0.969;MLEAC=1;MLEAF=0.083;MQ=53.25;MQRankSum=-7.09;QD=0.64;ReadPosRankSum=5.01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,110,1800:.	5	0	1	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	382.79	69	chr1	152306292	.	G	GCC	382.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.15;DP=1056;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.48;MQRankSum=-7.081;QD=0.49;ReadPosRankSum=5.3;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,110,1800:.	5	0	1	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	317.79	69	chr1	152306294	.	ATG	A	317.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.356;DP=1061;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.8;MQRankSum=-7.208;QD=0.4;ReadPosRankSum=5.26;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,110,1800:.	5	0	1	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	248.83	69	chr1	152306299	.	T	A	248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.982;DP=1054;ExcessHet=0;FS=1.028;MLEAC=1;MLEAF=0.083;MQ=54.12;MQRankSum=-7.332;QD=0.32;ReadPosRankSum=4.67;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,110,1800:.	5	0	1	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	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	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.08333	4549.83	86	chr1	152312082	.	C	G	4549.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.812;DP=1327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.45;MQRankSum=5.12;QD=10.53;ReadPosRankSum=-1.317;SOR=0.695	GT:AD:DP:GQ:PL	0/0:345,0:345:99:0,120,1800	5	0	1	0
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	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	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.08333	5224.83	468	chr1	152351526	.	T	C	5224.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.23;DP=655;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.77;MQRankSum=1.43;QD=11.16;ReadPosRankSum=-0.577;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1298	5	0	1	0
chr1	152354901	152354901	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G2885A:p.G962D	.	428	1092	2	0	0	2	0.000914913	.	.	.	2382142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.00566937642023	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0011	6.056e-05	0.0002523	39	154602	rs145907775	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.988e-05	0.0002	0	0	0	0.0024	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0002	0.0002	4.826e-05	0	0.0003	0	0	0	0.0034	0.0004	0	0.0004	0.33	0.13131	T	0.019	0.59159	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	1	0.08975	N	2.75	0.80375	M	0.94	0.43672	T	-3.63	0.69714	D	0.136	0.13341	-1.0474	0.15130	T	0.100	0.37085	T	9	0.07456434	0.11412	T	0.005669	0.14681	T	0.145	0.38592	.	.	0.358340041657	0.35441	0.04832170612761182	0.04775	0.0294652692224	0.03029	0.49427947402	0.38032	T	0.023711	0.18049	T	-0.414584	0.01854	T	-0.497039	0.22654	T	0.10360308876137	0.12748	T	0.539146	0.18203	T	0.126112	0.29546	0.16137019	0.37538	0.126112	0.29546	0.16137019	0.37537	-8.807	0.66446	D	.	.	0.471	0.63219	A	.	.	1.697602	0.21627	15.28	0.80822903611606545	0.13385	0.21201	0.21317	N	AEFDBI	0.129540	0.24776	N	-0.0480981081019849	0.39688	2.344478	-0.219549394219499	0.30835	1.739656	0.465468212117537	0.20661	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	0.946000	0.28667	.	.	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	12.066	0.52888	562	0.71143	.	.	.	.	.	.	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	0.001511	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	6586.83	171	chr1	152354901	.	C	T	6586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.533;DP=841;ExcessHet=0;FS=1.1;MLEAC=1;MLEAF=0.083;MQ=59.84;MQRankSum=-1.343;QD=12.74;ReadPosRankSum=0.572;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1298	5	0	1	0
chr1	152787513	152787513	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G214A:p.G72R	.	413	1066	39	4	0	47	0.0215695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00207463516295	0.0036	0.00159744	0.0048	0.0012	0.0038	0.0001	0.0032	0.0069	0.0089	0.0019	0.0042237	653	154602	rs148840667	0.0042	0.0042	0.0042	0.0043	0.0339	0.0042	0.0041	0.0300	0.0285	0.0010	0.0051	0.0285	2.519e-05	0.0040	0.0339	0.0037	0.0071	0.0030	0.0043	0.0043	0.0040	0.0046	0.0084	0.0040	0.0039	0.0072	0.0067	0.0007	0.0022	0.0084	0.0279	0.0002	0.0039	0.0238	0.0046	0.0099	0.0015	.	.	.	0.051	0.57587	T	0.997	0.70673	D	0.938	0.67350	D	0.052066	0.22926	N	0.222152	0.969984	0.25727	N	2.25	0.63811	M	3.68	0.04151	T	-1.88	0.43906	N	0.436	0.52029	-1.0889	0.05718	T	0.020	0.08500	T	10	0.008031726	0.00182	T	0.002075	0.03801	T	0.043	0.11576	0.175	0.08135	0.481321013822	0.47762	0.013290108626746108	0.01287	0.00415157904713	0.00368	0.458572030067	0.33115	T	0.008196	0.07540	T	-0.495427	0.00607	T	-0.482781	0.24152	T	0.0218803990945803	0.00896	T	0.291471	0.05330	T	0.5777508	0.71485	0.5177344	0.72136	0.5777508	0.71486	0.5177344	0.72136	-9.404	0.70260	D	.	.	0.223	0.46733	B	.;.;.	.;.;.	1.835216	0.23315	15.97	0.90672521180524235	0.19923	0.80367	0.40024	D	AEFBI	0.092124	0.18654	N	0.333941297055397	0.57897	3.959134	0.223333107658521	0.51145	3.29961	0.00429983819074504	0.10491	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	3.12	0.34986	2.012000	0.40551	.	.	0.563000	0.28513	0.996000	0.39380	0.003000	0.18671	0.648000	0.32638	0.0:0.0:0.779:0.221	9.013	0.35317	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027630	0.020202	0.035422	0.065574	0.000000	0.017241	0.018519	0.003788	0.08333	961.83	43	chr1	152787513	.	G	A	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=291;ExcessHet=0;FS=3.749;MLEAC=1;MLEAF=0.083;MQ=55.46;MQRankSum=-1.036;QD=17.18;ReadPosRankSum=-1.718;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	5	0	1	0
chr1	152827545	152827545	C	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.C73T:p.P25S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00157505293741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368179553	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	6.597e-06	6.563e-06	0	1.35e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.431	0.13673	T	0.069	0.23796	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	2.26	0.64354	M	2.65	0.12676	T	-4.0	0.74051	D	0.296	0.33469	-0.9805	0.34886	T	0.015	0.06282	T	9	0.07128036	0.10485	T	0.001575	0.02497	T	0.041	0.10877	0.098	0.01383	0.278968121808	0.27521	0.026031069712198877	0.02554	0.00670744513641	0.00592	.	.	.	0.159107	0.50241	T	-0.457232	0.01023	T	-0.71303	0.05141	T	0.0536590367710425	0.06132	T	.	.	.	0.21382007	0.43771	0.19145024	0.42604	0.21382007	0.43771	0.19145024	0.42603	-6.828	0.52767	T	.	.	0.079	0.07177	B	.	.	1.001579	0.13799	10.35	0.43940269376689228	0.03343	0.02598	0.07164	N	AEFBI	0.023995	0.01418	N	-0.895831716723264	0.10941	0.5254026	-0.995972326243457	0.09876	0.4939077	1.59684473988367E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	1.47	0.21832	0.545000	0.22976	.	.	-0.192000	0.09343	0.001000	0.13787	0.797000	0.26915	0.033000	0.13494	0.0:0.6263:0.2222:0.1515	4.382	0.10731	761	0.50382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1787.83	33	chr1	152827545	.	C	T	1787.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.741;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.487;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1411	5	0	1	0
chr1	153458940	153458940	T	C	exonic	S100A7	.	nonsynonymous SNV	S100A7:NM_002963:exon2:c.A74G:p.D25G	.	430	1056	36	0	0	36	0.0167598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00104842260736	.	.	5.766e-05	9.61e-05	0	0	0	5.994e-05	0	0.0001	3.84e-05	1	26028	rs200222470	9.523e-05	0.0007	9.948e-05	9.094e-05	0.0001	8.214e-05	7.729e-05	9.616e-05	8.962e-05	0	2.237e-05	0	0	0	0	0.0001	4.978e-05	0.0001	6.568e-05	0.0002	7.711e-05	5.373e-05	0.0001	3.515e-05	2.615e-05	4.766e-05	3.34e-05	7.216e-05	0	0	0	0	0	0	0.0001	0	0	0.547	0.06648	T	0.761	0.04619	T	0.014	0.16867	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.82	0.47800	L	4.09	0.02973	T	-2.82	0.59545	D	0.445	0.48319	-0.9359	0.43257	T	0.001	0.00467	T	9	0.12721223	0.24191	T	0.001048	0.01191	T	0.122	0.33800	.	.	0.565115492228	0.56175	0.307548140851132	0.30667	0.0456341534263	0.04953	0.420483767986	0.27902	T	0.047801	0.27830	T	-0.197443	0.21174	T	-0.521389	0.20154	T	0.041849633338652	0.04028	T	0.478952	0.14445	T	0.24368249	0.47310	0.21830884	0.46528	0.24368249	0.47310	0.21830884	0.46527	-5.071	0.37600	T	.	.	0.286	0.51857	B	.;.	.;.	0.942744	0.13185	9.686	0.41886843889963349	0.03051	0.04561	0.10203	N	AEFGBI	0.044703	0.07225	N	-1.08958457410564	0.06833	0.3157342	-1.07134982475866	0.08268	0.4057803	0.00148203934282373	0.08576	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.89	1.89	0.24700	2.005000	0.40484	1.125000	0.24277	0.573000	0.29008	0.010000	0.18352	0.031000	0.21272	0.004000	0.06068	0.0:0.0:0.0:1.0	5.858	0.17980	840	0.37365	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	266.83	40	chr1	153458940	.	T	C	266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=543;ExcessHet=0;FS=10.38;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=-12.5;QD=0.97;ReadPosRankSum=-2.517;SOR=1.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	5	0	1	0
chr1	153458950	153458950	T	C	exonic	S100A7	.	nonsynonymous SNV	S100A7:NM_002963:exon2:c.A64G:p.R22G	.	432	1060	30	0	0	30	0.0139535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000901198766048	.	.	6.589e-05	9.61e-05	0	0	0	7.492e-05	0	0.0001	0.0001537	4	26028	rs767181668	0.0001	0.0008	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	8.951e-05	7.701e-05	0.0001	1.872e-05	0.0002	0.0001	8.299e-05	0.0002	8.535e-05	0.0002	8.995e-05	8.055e-05	0.0001	4.954e-05	3.96e-05	4.765e-05	3.339e-05	7.214e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.799	0.03125	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.935	0.01286	N	3.47	0.05188	T	1.37	0.00867	N	0.127	0.12055	-0.9194	0.45635	T	0.002	0.00615	T	9	0.037575006	0.02121	T	9.01E-4	0.00844	T	0.033	0.08068	.	.	0.189391138174	0.18552	0.15141194554062642	0.15063	0.0424292274101	0.04572	0.248501554132	0.03612	T	0.020751	0.16281	T	-0.370412	0.03573	T	-0.769848	0.02773	T	0.0242991661709093	0.01183	T	0.325967	0.06723	T	0.50602496	0.67447	0.18495949	0.41580	0.50602496	0.67448	0.18495949	0.41579	-0.779	0.00785	T	.	.	0.048	0.00092	B	.;.	.;.	-0.868767	0.00979	0.039	0.59949935095651319	0.06346	0.00050	0.00389	N	AEFGBI	0.017255	0.00440	N	-1.41683731003344	0.02490	0.1100542	-1.43723077082879	0.02888	0.1336867	9.90027875794148E-4	0.08091	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.89	-2.49	0.06034	-0.898000	0.04213	-1.288000	0.05808	-0.488000	0.05050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3898:0.0:0.6102	5.685	0.17069	840	0.37365	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	232.83	40	chr1	153458950	.	T	C	232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.143;DP=546;ExcessHet=0;FS=10.659;MLEAC=1;MLEAF=0.083;MQ=59.26;MQRankSum=-12.86;QD=0.84;ReadPosRankSum=-3.976;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	5	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	553.96	86	chr1	153760378	.	C	G	553.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.351;DP=611;ExcessHet=3.1439;FS=310.595;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.594;SOR=10.364	GT:AD:DP:GQ:PL	0/1:58,43:107:99:250,0,529	2	0	4	0
chr1	154337411	154337411	G	A	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon11:c.G958A:p.E320K,ATP8B2:NM_001005855:exon12:c.G901A:p.E301K,ATP8B2:NM_001370596:exon12:c.G901A:p.E301K,ATP8B2:NM_001370597:exon12:c.G901A:p.E301K,ATP8B2:NM_001372009:exon12:c.G901A:p.E301K	.	410	1078	33	1	0	35	0.0159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0169390783709	0.0031	0.00179712	0.0037	0.0007	0.0026	0.0002	0.0014	0.0049	0.0099	0.0042	0.0034152	528	154602	rs41304564	0.0027	0.0027	0.0026	0.0028	0.0113	0.0026	0.0026	0.0091	0.0083	0.0002	0.0019	0.0104	0.0002	0.0016	0.0113	0.0025	0.0035	0.0047	0.0024	0.0024	0.0025	0.0023	0.0046	0.0022	0.0021	0.0031	0.0030	0.0003	0.0033	0.0016	0.0112	0.0002	0.0020	0.0102	0.0035	0.0033	0.0046	0.64	0.05002	T	0.877	0.03250	T	0.04	0.21357	B	0.013	0.16460	B	0.000000	0.84330	D	0.000000	0.999707	0.48408	D	.	.	.	-2.37	0.88220	D	-0.58	0.19720	N	0.306	0.34552	-0.7169	0.59615	T	0.223	0.58742	T	10	0.0077991486	0.00177	T	0.016939	0.38428	T	0.355	0.67600	.	.	0.781140881159	0.77911	0.635693494009724	0.63503	0.628108854042	0.56883	0.59986948967	0.52886	T	.	.	.	-0.141578	0.29639	T	0.0237126	0.71870	D	0.0124413987690525	0.00204	T	0.853215	0.53849	D	.	.	.	.	.	.	.	.	-7.122	0.59161	T	.	.	0.113	0.22428	B	.;.	.;.	3.212134	0.43726	21.8	0.98843403016275333	0.47169	0.94733	0.62143	D	AEFBI	0.486704	0.52576	N	-0.302990982930507	0.29035	1.606549	-0.0620030983154683	0.36975	2.158833	0.999999712195385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	1.795000	0.38418	4.976000	0.46431	0.596000	0.33519	0.979000	0.35152	1.000000	0.68203	0.749000	0.35751	0.0855:0.0:0.9145:0.0	10.905	0.46283	359	0.84979	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.007576	0.08333	1365.83	33	chr1	154337411	.	G	A	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.898;DP=263;ExcessHet=0;FS=5.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-1.418;SOR=0.309	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1050	5	0	1	0
chr1	154558298	154558298	C	A	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G256T:p.A86S	.	325	1180	16	1	0	18	0.00756939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0022	0.00119808	0.0039	0.0004	0.0036	0	0.0020	0.0053	0.0140	0.0027	0.0022898	354	154602	rs202059318	0.0022	0.0022	0.0021	0.0023	0.0088	0.0021	0.0021	0.0067	0.0059	0.0003	0.0015	0.0057	0	0.0017	0.0088	0.0022	0.0026	0.0032	0.0019	0.0019	0.0020	0.0017	0.0037	0.0017	0.0016	0.0027	0.0025	0.0002	0.0033	0.0008	0.0046	0	0.0016	0.0034	0.0030	0.0024	0.0037	0.253	0.16958	T	0.363	0.16815	T	0.001	0.07471	B	0.001	0.04355	B	0.065141	0.21903	N	0.234110	0.955766	0.26322	N	0	0.06538	N	1.08	0.39401	T	0.19	0.04947	N	0.105	0.08925	-0.9951	0.31272	T	0.013	0.05321	T	10	0.005991876	0.00134	T	.	.	.	0.016	0.02506	.	.	0.182106788282	0.17826	0.21996386590725103	0.21912	1.05001893674	0.76114	0.756650805473	0.75431	T	0.018887	0.15149	T	-0.590259	0.00167	T	-0.622433	0.10995	T	0.0133708668250187	0.00241	T	0.444256	0.12390	T	0.08793063	0.20495	0.051356357	0.08247	0.08793063	0.20495	0.051356357	0.08246	-4.8	0.34591	T	.	.	0.079	0.07412	B	.	.	2.896957	0.38380	20.7	0.93188905231359431	0.22853	0.78922	0.39015	D	AEFDGBHCI	0.189454	0.31670	N	-0.670891570278855	0.16854	0.8623621	-0.536259242295464	0.21172	1.144064	0.999999756380639	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.4	-1.21	0.09033	-0.095000	0.11043	5.397000	0.48500	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.994000	0.71098	0.1578:0.4014:0.1543:0.2865	1.030	0.01439	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004578	0.000000	0.002732	0.002941	0.000000	0.008621	0.009146	0.000000	0.08333	293.83	33	chr1	154558298	.	C	A	293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=209;ExcessHet=0;FS=1.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6;ReadPosRankSum=-1.174;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	5	0	1	0
chr1	155309931	155309931	C	T	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001135821:exon2:c.C142T:p.R48C,FDPS:NM_002004:exon2:c.C142T:p.R48C	Porokeratosis 9, multiple types	427	1089	5	1	0	7	0.00320366	.	.	.	3208025	FDPS-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0079	0.00499201	0.0046	0.0281	0.0045	0	0.0035	0.0030	0.0051	0.0003	0.0030853	477	154602	rs35362111	0.0023	0.0023	0.0024	0.0021	0.0192	0.0022	0.0022	0.0180	0.0175	0.0192	0.0029	0.0007	0	0.0010	0.0030	0.0020	0.0030	0.0002	0.0066	0.0067	0.0068	0.0065	0.0190	0.0063	0.0062	0.0179	0.0175	0.0190	0	0.0033	0.0014	0	0.0016	0	0.0019	0.0080	0.0002	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.806336	0.81001	D	2.125	0.59049	M	1.1	0.39050	T	-0.31	0.12099	N	0.682	0.68863	-0.9910	0.32347	T	0.090	0.34628	T	9	0.005872637	0.00131	T	.	.	.	0.193	0.47281	.	.	0.592282861509	0.58905	0.23138498350767142	0.23053	1.16536892638	0.79601	0.583023130894	0.50511	T	0.115176	0.43357	T	-0.401299	0.02270	T	-0.332958	0.41139	T	0.0367789536486905	0.03118	T	0.893011	0.63001	D	0.1941077	0.41148	0.20554064	0.44728	0.2057332	0.42724	0.21557797	0.46151	-5.647	0.43219	T	.	.	0.279	0.51209	B	.;.;.;.	.;.;.;.	4.802974	0.78054	26.8	0.99913485058176965	0.98238	0.71325	0.34964	D	ALL	0.327531	0.42847	N	0.281358203654871	0.55203	3.684616	0.250602851786077	0.52683	3.441574	0.999999995794113	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	4.03	3.1	0.34780	2.324000	0.43491	4.425000	0.43330	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.79:0.21:0.0	9.797	0.39907	40	0.97949	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	459.83	38	chr1	155309931	.	C	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.16;DP=213;ExcessHet=0;FS=3.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.602;SOR=1.739	GT:AD:DP:GQ:PL	0/1:19,14:33:99:470,0,568	5	0	1	0
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I,DAP3:NM_001199851:exon11:c.G910A:p.V304I,DAP3:NM_004632:exon12:c.G1033A:p.V345I,DAP3:NM_033657:exon12:c.G1033A:p.V345I,DAP3:NM_001199849:exon13:c.G1033A:p.V345I	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	68	0.97118	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.023098	0.014620	0.050000	0.017241	0.003049	0.015152	0.08333	799.83	34	chr1	155736985	.	G	A	799.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.316;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.39;SOR=0.779	GT:AD:DP:GQ:PL	0/1:34,31:65:99:810,0,918	5	0	1	0
chr1	156048508	156048508	C	T	exonic	UBQLN4	.	nonsynonymous SNV	UBQLN4:NM_001304342:exon5:c.G833A:p.R278Q,UBQLN4:NM_020131:exon5:c.G893A:p.R298Q	.	420	1062	38	2	0	42	0.0193906	.	.	.	706730	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.423	.	0.0049	0.00459265	0.0074	0.0015	0.0027	0.0001	0.0019	0.0078	0.0125	0.0186	0.0070698	1093	154602	rs143327773	0.0086	0.0086	0.0083	0.0090	0.0172	0.0085	0.0085	0.0164	0.0162	0.0013	0.0037	0.0029	0	0.0018	0.0070	0.0093	0.0065	0.0172	0.0058	0.0059	0.0061	0.0055	0.0166	0.0055	0.0054	0.0137	0.0126	0.0017	0.0011	0.0049	0.0017	0	0.0012	0	0.0092	0.0081	0.0166	1.0	0.00964	T	1.0	0.01155	T	0.346	0.33564	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	-0.145	0.04423	N	-1.33	0.79854	T	0.84	0.01761	N	0.399	0.43995	-0.7896	0.55753	T	0.100	0.37265	T	10	0.008500159	0.00193	T	.	.	.	0.423	0.73152	.	.	0.774197999884	0.77212	0.7733987295890202	0.77289	0.812123325804	0.66780	0.780212044716	0.78959	T	0.006428	0.05862	T	-0.309605	0.07783	T	-0.203222	0.54341	T	0.0114902627150112	0.00173	T	0.805919	0.45429	T	0.18372172	0.39654	0.1567515	0.36686	0.18372172	0.39653	0.1567515	0.36685	-2.219	0.04133	T	.	.	0.164	0.36194	B	.	.	3.536634	0.49643	22.8	0.4759771206193823	0.03904	0.90679	0.52057	D	AEFDBI	0.444249	0.50122	N	-0.308615606647941	0.28820	1.592859	-0.0923194634111654	0.35707	2.068983	0.999999016236468	0.74766	0.489673	0.17934	0	0.653731	0.59785	0	0.575934	0.27490	0	0.662433	0.64102	0	.	.	4.35	4.35	0.51454	4.153000	0.57895	5.974000	0.52050	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.645	0.76792	299	0.88026	.	.	.	.	.	rs143327773	Likely benign	0	0	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	0.009615	0.000000	0.004076	0.002941	0.000000	0.000000	0.021472	0.026718	0.08333	1746.83	109	chr1	156048508	.	C	T	1746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.06;MQRankSum=0.919;QD=16.03;ReadPosRankSum=0.387;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	5	0	1	0
chr1	156070201	156070201	C	T	exonic	RAB25	.	nonsynonymous SNV	RAB25:NM_020387:exon5:c.C556T:p.R186W	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0688338015831	.	.	2.486e-05	0	0	0	0	2.999e-05	0	6.057e-05	1.94e-05	3	154602	rs772732409	1.642e-05	1.71e-05	1.497e-05	1.788e-05	0.0009	1.111e-05	9.33e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	1.079e-05	4.967e-05	3.478e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.989	0.62824	D	0.183	0.35961	B	0.000054	0.53742	D	0.129423	0.766256	0.34097	D	0	0.06538	N	-1.35	0.80035	T	-2.11	0.48020	N	0.291	0.32921	-0.5668	0.66142	T	0.156	0.48790	T	10	0.32161665	0.49522	T	0.068834	0.70561	D	0.389	0.70521	0.368	0.37687	0.959469821936	0.95903	0.456457641551155	0.45563	0.536578971132	0.50984	0.521682858467	0.41863	T	0.291144	0.66390	T	-0.0275019	0.47780	T	-0.180427	0.56483	T	0.849288940429688	0.50104	D	0.868313	0.57032	D	0.13505277	0.31357	0.11271636	0.27198	0.13505277	0.31357	0.11271636	0.27197	-7.712	0.59091	D	.	.	0.195	0.41557	B	.	.	4.320303	0.66120	24.9	0.99839630231474452	0.92057	0.69372	0.34162	D	AEFDGBI	0.485593	0.52512	N	0.250539555377327	0.53664	3.53446	0.386157796717141	0.60711	4.261768	0.999999997568066	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.505526	0.08623	0	.	.	5.97	5.97	0.96935	2.428000	0.44406	3.912000	0.40415	0.599000	0.40250	0.983000	0.35670	0.999000	0.35428	0.845000	0.39915	0.0:1.0:0.0:0.0	15.924	0.79384	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	.	.	.	.	.	.	.	.	0.08333	561.83	40	chr1	156070201	.	C	T	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.576;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=-1.553;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1363	5	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.08333	593.83	37	chr1	156244810	.	G	A	593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.96;DP=230;ExcessHet=0;FS=2.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.11;SOR=1.171	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.08333	368.83	37	chr1	156244850	.	C	A	368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.049;DP=212;ExcessHet=0;FS=7.569;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.43;SOR=2.007	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr1	156265994	156265994	C	T	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.G1504A:p.A502T,SMG5:NM_001323614:exon12:c.G1642A:p.A548T,SMG5:NM_015327:exon12:c.G1642A:p.A548T,SMG5:NM_001323616:exon13:c.G1444A:p.A482T,SMG5:NM_001323617:exon13:c.G1444A:p.A482T	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00686898649207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.755	0.04720	T	0.006	0.13644	B	0.006	0.12133	B	0.059243	0.22338	N	0.418381	0.780537	0.81001	D	0.345	0.11182	N	1.53	0.30401	T	0.33	0.03889	N	0.065	0.03726	-1.0143	0.25561	T	0.017	0.07045	T	10	0.050749987	0.04854	T	0.006869	0.18177	T	0.032	0.07718	0.129	0.03412	0.23798241625	0.23396	0.14739613286767775	0.14661	0.279614328332	0.30451	0.373606562614	0.21348	T	0.027215	0.19978	T	-0.232763	0.16284	T	-0.572125	0.15255	T	0.264113873243332	0.23494	T	0.676232	0.28483	T	0.03830949	0.05080	0.053168535	0.08904	0.03830949	0.05079	0.053168535	0.08904	-3.722	0.19643	T	.	.	0.067	0.02370	B	.	.	1.716873	0.21862	15.38	0.97865845215643532	0.36499	0.85284	0.44403	D	AEFGBCI	0.228543	0.35220	N	-0.263602415463722	0.30564	1.705406	-0.0186838774217988	0.38871	2.296433	0.99999999484152	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	0.295000	0.18821	3.993000	0.41005	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.948000	0.49324	0.0:0.9173:0.0:0.0827	11.476	0.49547	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1732.83	35	chr1	156265994	.	C	T	1732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.103;DP=299;ExcessHet=0;FS=1.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.876;SOR=0.875	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1390	5	0	1	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.08333	1065.83	35	chr1	156266009	.	G	A	1065.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.137;DP=275;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.569;SOR=0.468	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1390	5	0	1	0
chr1	156540884	156540884	G	A	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon23:c.C2563T:p.R855C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0171337785542	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs751001051	2.189e-05	2.257e-05	1.906e-05	2.475e-05	0.0002	1.584e-05	1.356e-05	4.579e-05	3.272e-05	2.988e-05	4.472e-05	0	2.519e-05	0	0.0002	1.529e-05	3.312e-05	9.275e-05	3.287e-05	3.281e-05	1.286e-05	5.378e-05	6.543e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.41e-05	0	6.543e-05	0	0	0	0	2.941e-05	0.0005	0	0.067	0.35918	T	0.086	0.40909	T	0.004	0.12183	B	0.003	0.08700	B	0.000005	0.62929	N	0.060473	0.999999	0.58761	D	1.59	0.40313	L	3.86	0.03624	T	-6.63	0.92173	D	0.273	0.30914	-0.9544	0.40203	T	0.005	0.01506	T	10	0.20674118	0.36946	T	0.017134	0.38702	T	0.134	0.36365	.	.	0.464784125046	0.46103	0.5155700548635259	0.51480	0.21190198105	0.23690	0.329598784447	0.14873	T	0.639952	0.88946	D	-0.28889	0.09748	T	-0.450093	0.27687	T	0.156116523018922	0.17580	T	0.936406	0.76145	D	0.22956409	0.45696	0.18196225	0.41092	0.22956409	0.45696	0.18196225	0.41091	-6.788	0.52470	T	.	.	0.08	0.07793	B	.	.	3.770022	0.54150	23.5	0.9887691027146932	0.47754	0.88576	0.48568	D	AEFGBI	0.280194	0.39407	N	-0.337617487242268	0.27729	1.523771	-0.250088323466795	0.29769	1.670512	0.999187297692322	0.38681	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.02	1.98	0.25351	3.058000	0.49632	1.721000	0.28260	0.676000	0.76740	0.999000	0.42656	0.891000	0.27831	0.988000	0.63387	0.2675:0.0:0.7325:0.0	8.845	0.34325	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	34	chr1	156540884	.	G	A	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.057;DP=228;ExcessHet=0;FS=1.107;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.229;SOR=0.909	GT:AD:DP:GQ:PL	0/1:24,31:55:99:763,0,567	5	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.08333	507.83	35	chr1	156581456	.	G	A	507.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=222;ExcessHet=0;FS=8.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.306;SOR=1.981	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1101	5	0	1	0
chr1	156592443	156592443	G	A	exonic	NAXE	.	nonsynonymous SNV	NAXE:NM_144772:exon3:c.G370A:p.G124S	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.0283766294387	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.72224	D	0.999	0.90584	D	0.995	0.97372	D	0.000001	0.84330	D	0.055071	1	0.81001	D	4.11	0.97368	H	0.01	0.62459	T	-6.0	0.89534	D	0.749	0.91047	0.070	0.83609	D	0.449	0.78419	T	10	0.9791846	0.97830	D	0.028377	0.51063	D	0.596	0.83965	0.947	0.99346	0.614872044281	0.61176	0.906667750355272	0.90639	1.03750872276	0.75662	0.799868941307	0.81942	T	0.361407	0.72749	T	0.264319	0.79928	D	0.142	0.79669	D	0.998749136924744	0.95037	D	0.997023	0.99122	D	0.8053928	0.84252	0.8010228	0.88334	0.8053928	0.84254	0.8010228	0.88334	-13.296	0.90545	D	0.8099990767953753	0.88513	0.889	0.93356	P	.;.;.	.;.;.	5.798732	0.93603	33	0.99850772674769828	0.93013	0.98500	0.83437	D	AEFDGBHCI	0.962489	0.98410	D	0.866115434507685	0.90005	10.21169	0.764105845867877	0.87208	9.14318	0.999999999999999	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.41	4.41	0.52588	9.878000	0.98493	11.661000	0.93987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	15.954	0.79660	716	0.55970	YjeF N-terminal domain|YjeF N-terminal domain;YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain;YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	648.83	39	chr1	156592443	.	G	A	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.955;DP=238;ExcessHet=0;FS=5.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.368;SOR=0.551	GT:AD:DP:GQ:PL	0/1:27,24:51:99:659,0,793	5	0	1	0
chr1	156876514	156876514	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon13:c.C1729T:p.R577C,NTRK1:NM_001007792:exon14:c.C1639T:p.R547C,NTRK1:NM_002529:exon14:c.C1747T:p.R583C	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	626958	Inborn_genetic_diseases|not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.694	0.151439010075	7.7e-05	.	4.317e-05	0	0	0	0	6.267e-05	0	6.242e-05	3.88e-05	6	154602	rs371344688	5.064e-05	5.062e-05	5.856e-05	4.264e-05	6.385e-05	4.127e-05	3.78e-05	5.161e-05	4.738e-05	2.987e-05	0	0	0	0	0	6.385e-05	1.656e-05	1.159e-05	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.005	0.79402	D	0.958	0.68779	D	0.594	0.55870	P	0.034413	0.24774	N	0.353696	0.998161	0.44581	D	1.68	0.43186	L	-2.52	0.89363	D	-2.9	0.60827	D	0.518	0.55193	0.458	0.89949	D	0.668	0.88475	D	10	0.57029265	0.65281	D	0.151439	0.83299	D	0.694	0.88913	.	.	0.950158393516	0.94963	0.8195671141417424	0.81913	1.00756453028	0.74644	0.570352554321	0.48727	T	0.799605	0.94875	D	0.0127637	0.53401	T	-0.0889913	0.64237	T	0.724805891513824	0.41943	D	0.981702	0.93821	D	0.41087982	0.61478	0.40489647	0.64904	0.41087982	0.61479	0.40489647	0.64904	-7.426	0.59623	T	0.1018632862545588	0.07678	0.092	0.24633	B	.;.;.;.	.;.;.;.	4.333144	0.66407	25.0	0.99929109727838283	0.99279	0.85084	0.44188	D	AEFDBHCI	0.771306	0.70598	D	0.373914790114792	0.60012	4.185763	0.405917271442689	0.61932	4.400583	0.999999991912499	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	5.27	4.34	0.51267	-0.157000	0.10072	1.190000	0.24759	0.599000	0.40250	0.042000	0.21073	0.995000	0.32472	0.996000	0.76049	0.0:0.5511:0.4489:0.0	13.193	0.59145	556	0.71678	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	742.83	34	chr1	156876514	.	C	T	742.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=243;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.52;SOR=0.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q,NTRK1:NM_001007792:exon17:c.G2231A:p.R744Q,NTRK1:NM_002529:exon17:c.G2339A:p.R780Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	0	1487	35	0	0	35	0.0116318	.	.	YES	237215	not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|NTRK1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.000000	0.004076	0.002941	0.000000	0.008621	0.012346	0.007576	0.08333	1091.83	33	chr1	156881590	.	G	A	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.52;DP=245;ExcessHet=0;FS=1.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.934;SOR=0.87	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1196	5	0	1	0
chr1	156963227	156963227	G	C	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_014784:exon12:c.C996G:p.F332L,ARHGEF11:NM_001377418:exon13:c.C1104G:p.F368L,ARHGEF11:NM_001377419:exon13:c.C1116G:p.F372L,ARHGEF11:NM_198236:exon13:c.C1116G:p.F372L	.	420	1101	1	0	0	1	0.000453926	.	.	.	2334275	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0213213869751	0.0009	0.000399361	0.0009	0	0.0008	0	0	0.0012	0	0.0014	0.0007891	122	154602	rs145077102	0.0005	0.0005	0.0005	0.0006	0.0010	0.0005	0.0005	0.0009	0.0008	8.961e-05	0.0009	0.0059	0	0	0.0010	0.0004	0.0008	0.0010	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0005	0.0007	0.0005	0.0002	0	0.0004	0.0063	0	0	0	0.0007	0.0005	0.0015	0.433	0.09458	T	0.283	0.21478	T	0.004	0.24734	B	0.017	0.27960	B	0.000018	0.62929	D	0.000000	0.998479	0.48800	D	1.71	0.44315	L	-1.44	0.80815	T	-0.55	0.16799	N	0.604	0.63289	-0.9163	0.46050	T	0.168	0.50681	T	10	0.015892506	0.00334	T	0.021321	0.44070	T	0.309	0.63055	0.464	0.53404	0.819853981479	0.81815	0.40525851908553834	0.40441	0.491495775432	0.47841	0.771522641182	0.77652	T	0.069964	0.33842	T	-0.227283	0.17011	T	-0.144805	0.59700	T	0.0196017559602079	0.00663	T	0.876112	0.58827	D	0.21627298	0.44082	0.122301	0.29501	0.21627298	0.44082	0.122301	0.29500	-8.122	0.62310	D	.	.	0.763	0.75626	P	.;.	.;.	3.247352	0.44358	21.9	0.98218060155735165	0.39272	0.95800	0.66207	D	AEFBI	0.250109	0.37021	N	-0.280308202052025	0.29909	1.662864	-0.110664714664103	0.34960	2.016917	0.999995358881223	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.37	0.37692	2.707000	0.46812	5.779000	0.49792	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0721:0.1313:0.7966:0.0	10.832	0.45869	516	0.74704	.;Regulator of G protein signalling-like domain|RGS domain|RGS domain|Rho guanine nucleotide exchange factor 11, RGS 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	450.83	33	chr1	156963227	.	G	C	450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.558;DP=218;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.308;SOR=0.939	GT:AD:DP:GQ:PL	0/1:30,19:49:99:461,0,813	5	0	1	0
chr1	157769983	157769983	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon4:c.C478T:p.P160S,FCRL2:NM_030764:exon4:c.C478T:p.P160S	.	429	1040	53	0	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0011	0.00379393	0.0036	0.0003	0.0010	0	0.0002	0.0023	0.0044	0.0159	0.0032535	503	154602	rs148305794	0.0023	0.0023	0.0018	0.0028	0.0173	0.0022	0.0022	0.0166	0.0163	0.0002	0.0008	0.0065	7.557e-05	0.0001	0.0116	0.0013	0.0031	0.0173	0.0018	0.0018	0.0017	0.0019	0.0141	0.0016	0.0015	0.0114	0.0104	0.0004	0	0.0008	0.0049	0.0006	0.0002	0.0136	0.0021	0.0028	0.0141	0.219	0.19023	T	0.236	0.24694	T	0.181	0.29111	B	0.17	0.35299	B	0.579767	0.11155	N	0.723684	1	0.08975	N	0.965	0.23975	L	4.46	0.02102	T	-3.99	0.73893	D	0.253	0.28616	-0.9567	0.39789	T	0.002	0.00556	T	10	0.004002124	0.00077	T	.	.	.	0.021	0.04004	.	.	0.0666544352282	0.05500	0.22119002504482954	0.22034	0.0788043633379	0.08867	0.22887390852	0.01886	T	0.206382	0.56571	T	-0.621286	0.00108	T	-0.652237	0.08797	T	0.0390002034673709	0.03511	T	0.753825	0.37593	T	0.05170669	0.09536	0.093767434	0.22163	0.05170669	0.09535	0.093767434	0.22162	-7.183	0.55359	T	.	.	0.103	0.18456	B	.	.	0.225739	0.06078	2.519	0.87320607582066256	0.17143	0.01626	0.05248	N	AEFGBI	0.054106	0.09809	N	-1.03900198144267	0.07805	0.3638216	-1.1024586985933	0.07653	0.3731175	0.00125850611116476	0.08381	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	0.00667	0.13389	0.027000	0.13512	-0.011000	0.13060	0.618000	0.50648	0.054000	0.21560	0.000000	0.08366	0.007000	0.07825	0.2904:0.1662:0.5434:0.0	4.398	0.10802	760	0.50470	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.013587	0.002924	0.050000	0.008621	0.024390	0.015152	0.08333	998.83	33	chr1	157769983	.	G	A	998.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.705;DP=273;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.593;SOR=0.82	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1009,0,1423	5	0	1	0
chr1	158547436	158547436	C	T	exonic	OR6Y1	.	nonsynonymous SNV	OR6Y1:NM_001005189:exon1:c.G670A:p.A224T	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0015387751791	0.0010	0.000199681	0.0009	0.0002	0.0003	0	0	0.0014	0.0022	0.0003	0.0008279	128	154602	rs146992928	0.0009	0.0009	0.0008	0.0009	0.0040	0.0008	0.0008	0.0027	0.0023	0.0003	0.0005	0.0040	0	3.744e-05	0.0040	0.0009	0.0012	0.0004	0.0009	0.0009	0.0009	0.0008	0.0012	0.0008	0.0007	0.0010	0.0009	0.0001	0.0252	0.0003	0.0046	0	0.0003	0	0.0012	0.0010	0.0004	0.201	0.20306	T	0.306	0.19972	T	0.056	0.22806	B	0.015	0.17295	B	0.642590	0.10585	N	0.784661	1	0.08975	N	0.16	0.08945	N	8.68	0.00126	T	-0.93	0.24898	N	0.052	0.02366	-1.1191	0.02389	T	0.000	0.00039	T	10	0.0053144097	0.00116	T	0.001539	0.02420	T	0.024	0.04979	.	.	0.154104182512	0.14974	0.08486840661116518	0.08420	0.0189071063277	0.01841	0.204613506794	0.00603	T	0.004171	0.03581	T	-0.692985	0.00040	T	-0.818642	0.01480	T	0.000954631542796552	0.00009	T	0.20398	0.02363	T	0.05890278	0.11908	0.048973188	0.07386	0.05890278	0.11907	0.048973188	0.07385	-4.283	0.27938	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	0.515303	0.08842	5.620	0.90374773179871482	0.19637	0.02112	0.06250	N	AEFI	0.026323	0.01955	N	-0.97067422974725	0.09233	0.4361947	-0.987821153001803	0.10058	0.5042222	1.34243232848879E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	1.16	0.19936	-0.304000	0.08238	-4.572000	0.02089	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5337:0.0:0.4663	7.730	0.27949	598	0.68232	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	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.001359	0.005882	0.000000	0.008621	0.003049	0.000000	0.1667	4048.06	120	chr1	158547436	.	C	T	4048.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.346;DP=561;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.828;SOR=0.686	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1589,0,1296	4	0	2	0
chr1	158999987	158999987	G	T	exonic	PYDC5	.	nonsynonymous SNV	PYDC5:NM_001320010:exon1:c.C326A:p.S109Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938132603	0.0016	4.771e-06	0	0.0029	0.0179	0	0	.	.	0	0	0	0	0	0.0179	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	934.83	34	chr1	158999987	.	G	T	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.99;DP=239;ExcessHet=0;FS=3.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.984;SOR=0.33	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr1	159304153	159304153	G	A	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon4:c.G302A:p.S101N	.	431	1070	19	2	0	23	0.0106334	.	.	.	706768	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0008	0.0181709	0.0063	0.0002	0.0003	0.0714	0.0005	0.0010	0.0055	0.0040	0.0059055	913	154602	rs2298805	0.0034	0.0034	0.0034	0.0034	0.0850	0.0033	0.0033	0.0826	0.0816	0.0001	0.0006	0.0024	0.0850	0.0013	0.0040	0.0006	0.0054	0.0046	0.0036	0.0036	0.0032	0.0041	0.0773	0.0034	0.0033	0.0711	0.0686	0.0002	0	0.0006	0.0035	0.0773	0.0022	0.0068	0.0008	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	P	3.995	0.96723	H	2.12	0.19726	T	-2.79	0.59059	D	0.483	0.51761	-0.5511	0.66745	T	0.159	0.49212	T	8	0.0032084882	0.00054	T	.	.	.	0.162	0.41843	.	.	0.557365556891	0.55396	0.6099697937867461	0.60928	0.197323763495	0.22113	0.436360627413	0.30080	T	0.735165	0.92619	D	-0.473276	0.00811	T	-0.365752	0.37384	T	0.148157181154454	0.16956	T	0.449655	0.12671	T	0.5811307	0.71670	0.4919939	0.70614	0.5811307	0.71671	0.4919939	0.70614	-10.147	0.74787	D	.	.	0.694	0.78211	P	.;.	.;.	3.454008	0.48109	22.6	0.98360627124908862	0.40638	0.85134	0.44242	D	AEFI	0.425901	0.49048	N	0.443070018720451	0.63811	4.622162	0.197259700354554	0.49697	3.169788	0.00160229383295625	0.08694	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	3.78	0.42629	2.577000	0.45707	9.805000	0.81716	0.676000	0.76740	0.730000	0.28923	1.000000	0.68203	0.005000	0.06747	0.0:0.1909:0.8091:0.0	10.812	0.45754	785	0.46916	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.08333	847.83	33	chr1	159304153	.	G	A	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.302;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.624;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	5	0	1	0
chr1	159307919	159307919	C	T	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon6:c.C761T:p.P254L	.	422	1095	5	0	0	5	0.0022779	.	.	.	706769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.023	0.00756481039209	0.0015	.	0.0013	0.0002	0.0008	0	0	0.0021	0.0022	0	0.0010867	168	154602	rs143419433	0.0010	0.0010	0.0010	0.0010	0.0032	0.0010	0.0010	0.0021	0.0017	0.0003	0.0009	0.0264	0	0	0.0032	0.0005	0.0029	9.592e-05	0.0014	0.0014	0.0013	0.0015	0.0021	0.0012	0.0012	0.0015	0.0013	0.0002	0	0.0021	0.0323	0	0	0.0068	0.0008	0.0009	0	0.211	0.19569	T	0.0	0.92824	D	0.005	0.12996	B	0.006	0.12133	B	0.036253	0.01815	N	2.264110	1	0.08975	N	2.095	0.58118	M	4.62	0.02616	T	-1.76	0.41618	N	0.148	0.26837	-0.9041	0.47550	T	0.002	0.00676	T	10	0.005096704	0.00110	T	0.007565	0.20060	T	0.023	0.04649	.	.	0.187945064343	0.18414	0.33577782507057036	0.33490	0.0244559344279	0.02484	0.261030852795	0.05014	T	0.236659	0.60418	T	-0.612007	0.00123	T	-0.720705	0.04762	T	0.0151340211177305	0.00329	T	0.587441	0.21491	T	0.035280533	0.04123	0.037323512	0.03361	0.035280533	0.04122	0.037323512	0.03361	-3.556	0.17225	T	.	.	0.100	0.20819	B	.;.	.;.	1.310547	0.17138	12.98	0.89229461913344243	0.18619	0.05196	0.11019	N	AEFDHCIJ	0.087816	0.17805	N	-1.06090899850671	0.07375	0.3424118	-1.09207243728421	0.07855	0.3838161	1.78911533040488E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.08	-0.148	0.12767	-0.368000	0.07597	0.280000	0.16756	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.5387:0.1676:0.2937	4.238	0.10086	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.010101	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.1667	1116.06	21	chr1	159307919	.	C	T	1116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.234;DP=177;ExcessHet=0.4139;FS=1.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.793;SOR=0.495	GT:AD:DP:GQ:PL	0/1:18,13:31:99:368,0,553	4	0	2	0
chr1	159313677	159313677	A	G	exonic	OR10J3	.	nonsynonymous SNV	OR10J3:NM_001004467:exon1:c.T983C:p.M328T	.	428	1093	1	0	0	1	0.000457247	.	.	.	3574136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0040084188137	7.7e-05	.	5.249e-05	0	0	0	0	9.41e-05	0	0	3.88e-05	6	154602	rs143276088	8.703e-05	8.687e-05	9.546e-05	7.852e-05	0.0003	7.434e-05	6.982e-05	8.396e-05	7.812e-05	0	4.525e-05	0	0	0	0.0003	9.901e-05	0.0002	2.324e-05	4.599e-05	4.596e-05	6.421e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.061	0.45530	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	6.77	0.00491	T	0.03	0.06612	N	0.167	0.17691	-0.9529	0.40468	T	0.000	0.00114	T	9	0.06644368	0.09113	T	0.004008	0.09525	T	0.041	0.10877	.	.	0.0666544352282	0.05500	.	.	0.00661704411499	0.00580	0.36120402813	0.19561	T	8.6E-4	0.00434	T	-0.379614	0.03133	T	-0.584748	0.14124	T	0.122302799492203	0.14653	T	0.184082	0.01896	T	0.5980961	0.72589	0.43925935	0.67284	0.5980961	0.72590	0.43925935	0.67284	-2.271	0.04399	T	.	.	0.116	0.23430	B	.	.	0.579002	0.09474	6.253	0.51363746247472575	0.04549	0.16702	0.19510	N	AEFI	0.035402	0.04548	N	-0.902572681048058	0.10782	0.5169384	-0.892739539607366	0.12265	0.629923	9.2126306216659E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.11	2.94	0.33188	0.703000	0.25321	-0.199000	0.10963	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.7809:0.2191:0.0:0.0	7.534	0.26866	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	2232.06	36	chr1	159313677	.	A	G	2232.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.405;DP=341;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.573;SOR=0.709	GT:AD:DP:GQ:PL	0/1:49,40:89:99:912,0,1362	4	0	2	0
chr1	159535485	159535485	G	C	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.C523G:p.H175D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.000927517071217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.980157	0.25132	N	3.07	0.87108	M	8.62	0.00160	T	-8.47	0.97249	D	0.401	0.44187	-0.9482	0.41279	T	0.001	0.00255	T	9	0.48838633	0.60845	T	9.28E-4	0.00911	T	0.098	0.28162	0.411	0.44723	0.684580721633	0.68189	0.22180994193222983	0.22095	0.316640433507	0.33919	0.232837587595	0.02185	T	0.148524	0.48711	T	-0.0884683	0.38329	T	-0.364855	0.37489	T	0.969645202159882	0.68663	D	0.880912	0.59977	D	0.79058975	0.83310	0.65581053	0.79847	0.79058975	0.83311	0.65581053	0.79848	-9.818	0.72815	D	.	.	0.273	0.50645	B	.	.	3.206839	0.43630	21.8	0.9789343211297129	0.36690	0.60581	0.31236	D	AEFBI	0.162032	0.28817	N	0.0628955632937799	0.44737	2.742394	-0.206883303540009	0.31288	1.769295	3.40919712197393E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.91	2.01	0.25568	0.474000	0.21858	0.799000	0.21641	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.408000	0.26961	0.2208:0.0:0.5788:0.2003	3.440	0.07029	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4787.06	35	chr1	159535485	.	G	C	4787.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.682;DP=546;ExcessHet=0.4139;FS=4.434;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.615;SOR=0.513	GT:AD:DP:GQ:PL	0/1:113,92:205:99:2383,0,3056	4	0	2	0
chr1	159809008	159809008	C	T	exonic	FCRL6	.	stopgain	FCRL6:NM_001004310:exon4:c.C367T:p.R123X,FCRL6:NM_001284217:exon5:c.C388T:p.R130X	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00199681	0.0022	0.0004	0.0013	0.0010	0.0003	0.0023	0.0022	0.0054	0.0021669	335	154602	rs145922130	0.0017	0.0017	0.0015	0.0018	0.0109	0.0016	0.0016	0.0088	0.0080	0.0005	0.0016	0.0006	0.0004	0.0003	0.0109	0.0016	0.0018	0.0047	0.0016	0.0016	0.0018	0.0015	0.0048	0.0015	0.0014	0.0033	0.0028	0.0005	0	0.0014	0.0009	0.0008	0.0004	0.0136	0.0025	0.0009	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.005441	0.01079	N	3.036110	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.233	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1661	0.25826	T	-0.0104141	0.69657	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.646380	0.92777	33	0.94286463566834489	0.24586	0.00465	0.02234	N	AEFDBI	0.039168	0.05650	N	-0.363794316794164	0.26767	1.463456	-0.776061364364325	0.15083	0.7914741	0.019726814935807	0.13189	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.54	-4.25	0.03508	-2.320000	0.01200	-12.792000	0.00500	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3509:0.2211:0.0:0.428	3.578	0.07491	912	0.21483	.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.013587	0.000000	0.000000	0.000000	0.009146	0.000000	0.1667	3593.06	45	chr1	159809008	.	C	T	3593.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=429;ExcessHet=0.4139;FS=0.443;MLEAC=2;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.73;SOR=0.651	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1490,0,1499	4	0	2	0
chr1	159928983	159928983	G	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon19:c.C2405T:p.A802V,IGSF9:NM_020789:exon19:c.C2357T:p.A786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0153512286331	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757839323	2.196e-06	4.788e-06	0	4.481e-06	7.797e-05	5.9e-07	1.6e-07	2.067e-05	1.073e-05	0	0	0	7.797e-05	0	0	0	0	0	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	1.0	0.01954	T	0.344	0.17804	T	0.001	0.07471	B	0.001	0.04355	B	0.722749	0.09921	N	0.820858	0.999324	0.21358	N	0.975	0.24501	L	-0.03	0.63077	T	0.19	0.04947	N	0.034	0.00942	-0.9826	0.34398	T	0.028	0.11795	T	9	0.024261355	0.00661	T	0.015351	0.36031	T	0.022	0.04323	0.166	0.07071	0.179529687257	0.17594	0.24269001128756612	0.24183	0.249200713937	0.27491	0.459253311157	0.33207	T	0.022293	0.17210	T	-0.295751	0.09066	T	-0.662602	0.08092	T	0.0561301745474339	0.06546	T	0.69773	0.32735	T	0.031275	0.02939	0.043288086	0.05352	0.031275	0.02939	0.043288086	0.05352	-4.338	0.31356	T	.	.	0.135	0.29394	B	.;.	.;.	1.006884	0.13856	10.41	0.74749627592371604	0.10813	0.06602	0.12617	N	AEFDBCI	0.066476	0.13019	N	-0.96381084319417	0.09385	0.44395	-0.817443594508986	0.14073	0.7334436	0.999958314652282	0.48110	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.15	0.568	0.16518	0.214000	0.17331	1.271000	0.25291	-0.122000	0.13826	0.000000	0.06391	0.999000	0.35428	0.989000	0.64315	0.5657:0.0:0.4343:0.0	6.703	0.22425	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	528.83	35	chr1	159928983	.	G	A	528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=225;ExcessHet=0;FS=1.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.03;SOR=0.389	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr1	160093853	160093853	C	T	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.G761A:p.R254H,IGSF8:NM_052868:exon3:c.G761A:p.R254H,IGSF8:NM_001206665:exon4:c.G761A:p.R254H	.	419	1101	2	0	0	2	0.000907441	.	.	.	3440905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00706530786897	.	.	4.153e-05	0	0.0002	0	0	3.023e-05	0	6.083e-05	3.88e-05	6	154602	rs201207100	0.0001	0.0001	9.937e-05	0.0001	0.0040	9.115e-05	8.645e-05	0.0027	0.0023	5.974e-05	0.0002	0	5.038e-05	0	0.0040	8.273e-05	0.0003	5.797e-05	9.845e-05	9.841e-05	0.0001	5.369e-05	0.0002	6e-05	4.875e-05	7.909e-05	5.994e-05	4.81e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0002	0.011	0.65419	D	0.011	0.64786	D	0.998	0.73220	D	0.813	0.58748	P	0.014453	0.28529	N	0.275715	0.875146	0.28143	N	2.125	0.59049	M	1.95	0.22474	T	-3.87	0.73378	D	0.138	0.14054	-1.1318	0.01698	T	0.042	0.18035	T	10	0.28769523	0.46352	T	0.007065	0.18704	T	0.097	0.27909	0.608	0.74063	0.312608672186	0.30878	0.551521984368609	0.55078	0.174648314704	0.19666	0.582167744637	0.50391	T	0.306101	0.67832	T	-0.337525	0.05561	T	-0.467562	0.25779	T	0.228464126586914	0.21878	T	0.854215	0.54045	D	0.16555387	0.36834	0.11824875	0.28544	0.16555387	0.36834	0.11824875	0.28543	-7.447	0.57236	T	.	.	0.097	0.17016	B	.;.;.;.	.;.;.;.	3.799295	0.54735	23.5	0.99934641761874454	0.99535	0.61654	0.31548	D	AEFGBI	0.284011	0.39698	N	0.300523293577007	0.56176	3.781951	0.252383977029347	0.52785	3.451048	0.999796586669163	0.43153	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	0.153000	0.16140	2.669000	0.33934	0.549000	0.26987	0.885000	0.31090	1.000000	0.68203	0.821000	0.38685	0.0:0.8915:0.0:0.1085	8.796	0.34042	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;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	0.008056	0.000000	0.012228	0.011696	0.000000	0.008621	0.000000	0.007576	0.08333	1834.83	35	chr1	160093853	.	C	T	1834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.262;DP=320;ExcessHet=0;FS=0.618;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.267;SOR=0.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1177	5	0	1	0
chr1	160094051	160094051	G	A	exonic	IGSF8	.	nonsynonymous SNV	IGSF8:NM_001320247:exon3:c.C563T:p.A188V,IGSF8:NM_052868:exon3:c.C563T:p.A188V,IGSF8:NM_001206665:exon4:c.C563T:p.A188V	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.00761742822142	.	.	1.651e-05	9.634e-05	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs767443984	1.574e-05	1.71e-05	1.362e-05	1.788e-05	8.961e-05	1.048e-05	8.75e-06	2.995e-05	2.038e-05	8.961e-05	0	0	0	0	0	8.993e-06	6.623e-05	6.956e-05	2.627e-05	2.627e-05	2.568e-05	2.689e-05	9.645e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.645e-05	0	0	0	0	0	0	0	0	0	0.171	0.22746	T	0.0	0.92824	D	1.0	0.90584	D	0.977	0.73820	D	0.000005	0.62929	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.06	0.20523	T	0.16	0.05217	N	0.226	0.25499	-1.0938	0.04929	T	0.034	0.14509	T	10	0.16236228	0.30431	T	0.007617	0.20219	T	0.272	0.58758	0.416	0.45544	0.316494231283	0.31262	0.49754623576622437	0.49675	0.615720585361	0.56053	0.591475963593	0.51702	T	0.039835	0.25325	T	-0.0923752	0.37684	T	-0.370467	0.36834	T	0.632005453109741	0.37701	D	0.814619	0.46840	T	0.065367885	0.13964	0.095473014	0.22645	0.065367885	0.13964	0.095473014	0.22644	-4.984	0.36666	T	.	.	0.169	0.37312	B	.;.;.;.	.;.;.;.	4.037497	0.59751	24.1	0.99931295368527584	0.99387	0.94308	0.60753	D	AEFDGBI	0.611837	0.60014	D	0.220615030587148	0.52199	3.395598	0.23088606773756	0.51570	3.338331	0.999999999984941	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.88	3.88	0.43959	4.393000	0.59427	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:1.0:0.0	15.132	0.72211	754	0.51307	Immunoglobulin subtype;Immunoglobulin subtype;Immunoglobulin subtype;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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1363.83	35	chr1	160094051	.	G	A	1363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.18;DP=330;ExcessHet=0;FS=0.655;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.108;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1177	5	0	1	0
chr1	160239944	160239944	C	T	exonic	DCAF8	.	nonsynonymous SNV	DCAF8:NM_015726:exon4:c.G476A:p.R159Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0262545464353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.58626	T	0.291	0.36630	T	0.994	0.90584	D	0.587	0.75793	P	0.000164	0.48594	U	0.077567	0.999118	0.46101	D	1.935	0.51832	L	-0.36	0.68754	T	-1.9	0.44284	N	0.709	0.72656	-0.5121	0.68210	T	0.348	0.71289	T	10	0.5574356	0.64597	D	0.026255	0.49180	D	0.295	0.61502	0.474	0.55020	0.401489600333	0.39766	0.5213429551367514	0.52057	1.73888321099	0.90852	0.748397767544	0.74211	T	0.058013	0.30725	T	0.11985	0.66357	D	-0.0656204	0.65936	T	0.87945497375948	0.52942	D	0.885811	0.63049	D	0.5694126	0.71028	0.26876426	0.52750	0.5694126	0.71029	0.26876426	0.52749	-10.157	0.74846	D	.	.	0.110	0.31151	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.232174	0.87830	29.4	0.99939021888105628	0.99734	0.98733	0.86156	D	AEFDBI	0.737506	0.68268	D	0.620472104687056	0.74471	6.138304	0.626579228622789	0.76876	6.572564	0.999925148937715	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.04	5.04	0.67293	5.148000	0.64701	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.181	0.86736	332	0.86382	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1542.83	108	chr1	160239944	.	C	T	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=287;ExcessHet=0;FS=9.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.341;SOR=1.533	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1473	5	0	1	0
chr1	160685160	160685160	C	T	exonic	CD48	.	nonsynonymous SNV	CD48:NM_001256030:exon2:c.G112A:p.G38S,CD48:NM_001778:exon2:c.G112A:p.G38S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.144337937614	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933227640	3.359e-05	3.42e-05	3.68e-05	3.034e-05	7.575e-05	2.571e-05	2.317e-05	2.717e-05	2.392e-05	0	0	0	7.575e-05	0	0	3.605e-05	1.659e-05	5.802e-05	1.315e-05	1.313e-05	2.571e-05	0	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	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	1.0	0.97372	D	0.000038	0.55875	D	0.160788	0.614454	0.32650	D	2.98	0.85499	M	-1.45	0.80899	T	-4.79	0.85323	D	0.595	0.61426	0.109	0.84340	D	0.560	0.83970	D	10	0.89006305	0.88345	D	0.144338	0.82661	D	0.520	0.79583	.	.	0.897545324515	0.89653	0.7138897104841061	0.71331	0.275022774377	0.29986	0.369179010391	0.20714	T	0.839743	0.96252	D	-0.0447717	0.45238	T	-0.0763861	0.65167	T	0.97918438911438	0.72702	D	0.667533	0.27667	T	0.9301858	0.94255	0.7680527	0.86302	0.9301858	0.94256	0.7680527	0.86303	-8.715	0.65844	D	.	.	0.257	0.52360	B	.;.;.	.;.;.	2.933932	0.38987	20.9	0.99806983235987856	0.89085	0.58404	0.30633	D	AEFDGBCI	0.224411	0.34864	N	0.366127031027256	0.59596	4.140312	0.215708111286482	0.50719	3.260992	0.99999998653387	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.6	3.6	0.40374	2.803000	0.47620	1.805000	0.28914	-0.810000	0.03076	0.711000	0.28732	0.618000	0.25802	0.000000	0.00833	0.0:1.0:0.0:0.0	11.030	0.46984	873	0.30802	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	888.83	43	chr1	160685160	.	C	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=235;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.117;SOR=0.461	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	5	0	1	0
chr1	160750307	160750307	C	T	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon3:c.C332T:p.A111V,SLAMF7:NM_001282594:exon3:c.C371T:p.A124V,SLAMF7:NM_001282595:exon3:c.C251T:p.A84V,SLAMF7:NM_001282596:exon3:c.C332T:p.A111V,SLAMF7:NM_001282592:exon4:c.C653T:p.A218V,SLAMF7:NM_021181:exon4:c.C653T:p.A218V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00830718538986	7.7e-05	.	2.478e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs143477393	1.505e-05	1.573e-05	1.498e-05	1.513e-05	2.32e-05	9.85e-06	8.42e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	4.969e-05	2.32e-05	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.229	0.35537	T	0.038	0.61642	D	0.952	0.54136	P	0.644	0.52249	P	0.439698	0.04753	N	1.357460	1	0.08975	N	2.085	0.57729	M	0.72	0.50976	T	-1.29	0.34397	N	0.235	0.26475	-1.0496	0.14509	T	0.072	0.29163	T	10	0.112574816	0.21120	T	0.008307	0.22004	T	0.063	0.18251	.	.	0.454518106513	0.45074	0.2247229013101845	0.22387	0.241443768577	0.26671	0.244025886059	0.03165	T	0.204103	0.56278	T	-0.366789	0.03760	T	-0.656986	0.08472	T	0.218775659799576	0.21402	T	0.471653	0.39623	T	0.035910055	0.04316	0.05803807	0.10657	0.035910055	0.04316	0.05803807	0.10656	-5.362	0.44083	T	.	.	0.108	0.26886	B	.;.;.;.	.;.;.;.	1.517562	0.19489	14.29	0.9742030735470123	0.33870	0.08111	0.14079	N	AEFGBCI	0.077961	0.15718	N	-0.563958264991717	0.20048	1.053982	-0.679861937781891	0.17465	0.9287712	0.999998411084667	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.94	1.51	0.22094	0.678000	0.24956	0.320000	0.17174	0.333000	0.19617	0.042000	0.21073	0.000000	0.08366	0.212000	0.22240	0.0:0.6698:0.0:0.3302	7.495	0.26652	799	0.44747	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1439.06	35	chr1	160750307	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=258;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.98;SOR=0.716	GT:AD:DP:GQ:PL	0/1:21,27:48:99:697,0,456	4	0	2	0
chr1	160814668	160814668	C	G	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon4:c.C979G:p.L327V,LY9:NM_001261457:exon4:c.C979G:p.L327V,LY9:NM_002348:exon4:c.C979G:p.L327V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00780225613857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.148	0.32675	T	0.565	0.38434	P	0.168	0.35187	B	.	.	.	.	1	0.19781	N	2.105	0.58435	M	4.99	0.01332	T	-1.31	0.32791	N	0.251	0.28381	-0.9602	0.39143	T	0.002	0.00738	T	9	0.3034878	0.47880	T	0.007802	0.20694	T	0.077	0.22490	0.765	0.89293	0.362960570912	0.35913	0.2969194223447648	0.29604	0.288080729046	0.31214	0.468927681446	0.34532	T	0.131074	0.46036	T	-0.247119	0.14455	T	-0.592746	0.13430	T	0.125655334788244	0.14974	T	0.69773	0.30785	T	0.05889332	0.11905	0.059227996	0.11079	0.05889332	0.11904	0.059227996	0.11079	-6.557	0.50724	T	.	.	0.231	0.53853	B	.;.;.	.;.;.	0.408742	0.07796	4.487	0.94092201542682086	0.24249	0.06167	0.12150	N	AEFBI	0.054156	0.09822	N	-0.693063958534015	0.16217	0.8243406	-0.860818690267734	0.13027	0.6735551	0.116244380021963	0.16774	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.71	-1.1	0.09367	0.418000	0.20950	-0.027000	0.12846	0.511000	0.23309	0.193000	0.24225	0.000000	0.08366	0.008000	0.08271	0.0:0.4269:0.3414:0.2317	4.535	0.11428	789	0.46346	.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.08333	1538.83	33	chr1	160814668	.	C	G	1538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.561;DP=268;ExcessHet=0;FS=1.686;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.299;SOR=0.51	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1297	5	0	1	0
chr1	160814725	160814725	G	C	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon4:c.G1036C:p.V346L,LY9:NM_001261457:exon4:c.G1036C:p.V346L,LY9:NM_002348:exon4:c.G1036C:p.V346L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00355870816869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.18	0.29442	T	0.998	0.73220	D	0.875	0.62107	P	.	.	.	.	1	0.26686	N	1.445	0.36358	L	4.77	0.01563	T	-1.21	0.30762	N	0.048	0.01999	-0.9215	0.45348	T	0.005	0.01833	T	9	0.118591905	0.22424	T	0.003559	0.08123	T	0.033	0.08068	0.299	0.26522	0.421799068777	0.41798	0.24698399885667363	0.24612	0.110903085958	0.12519	0.367550075054	0.20480	T	0.074607	0.34979	T	-0.29014	0.09622	T	-0.654542	0.08639	T	0.299094378948212	0.24966	T	0.612539	0.23323	T	0.11548949	0.27252	0.07929572	0.17837	0.11548949	0.27252	0.07929572	0.17837	-3.483	0.16306	T	.	.	0.189	0.53610	B	.;.;.	.;.;.	1.220704	0.16146	12.35	0.98101636371529988	0.38278	0.03090	0.08013	N	AEFBI	0.049220	0.08481	N	-0.26466237409408	0.30521	1.702695	-0.424751165271994	0.24273	1.328305	0.667498397874539	0.22338	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.61	2.61	0.30255	0.002000	0.12962	0.012000	0.13456	0.575000	0.29119	0.001000	0.13787	0.000000	0.08366	0.872000	0.41544	0.0:0.0:1.0:0.0	8.884	0.34551	789	0.46346	.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.08333	1088.83	33	chr1	160814725	.	G	C	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=243;ExcessHet=0;FS=3.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.626;SOR=0.344	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1297	5	0	1	0
chr1	160841699	160841699	C	A	exonic	CD244	.	nonsynonymous SNV	CD244:NM_001166663:exon2:c.G264T:p.K88N,CD244:NM_001166664:exon2:c.G264T:p.K88N,CD244:NM_016382:exon2:c.G264T:p.K88N	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00498916612813	.	0.000199681	0.0003	0	0	0	0	0	0	0.0024	0.0002652	41	154602	rs560992418	0.0001	0.0001	5.445e-05	0.0002	0.0018	0.0001	9.415e-05	0.0015	0.0014	0	0	0	0	0	0.0002	8.993e-07	0.0002	0.0018	4.596e-05	4.593e-05	0	9.399e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	0	0	0.0012	0.086	0.32769	T	0.055	0.48594	T	0.646	0.41722	P	0.164	0.42432	B	0.006218	0.01115	N	3.362090	1	0.08975	N	1.1	0.28011	L	1.95	0.22474	T	-0.98	0.28906	N	0.08	0.09349	-1.0306	0.20260	T	0.016	0.06664	T	10	0.015888989	0.00334	T	0.004989	0.12598	T	0.033	0.08068	0.401	0.43081	0.165133752707	0.16062	0.2063975654133088	0.20556	0.0876462049252	0.09892	0.2993029356	0.10297	T	0.140925	0.47571	T	-0.699934	0.00036	T	-0.784968	0.02306	T	0.0399372374950194	0.03678	T	0.49745	0.15470	T	0.12970845	0.30288	0.07286166	0.15767	0.12970845	0.30287	0.07286166	0.15767	-3.449	0.17196	T	.	.	0.191	0.45446	B	.;.;.	.;.;.	0.651274	0.10196	6.937	0.95871767276754893	0.28049	0.02914	0.07718	N	AEFBI	0.068927	0.13620	N	-1.00241342384733	0.08554	0.4014931	-1.12113341232867	0.07297	0.3544067	0.119655864376663	0.16849	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.36	-1.17	0.09152	-0.168000	0.09914	-2.416000	0.03781	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4262:0.0:0.5738	7.675	0.27646	784	0.47045	.;Natural killer cell receptor 2B4, immunoglobulin 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	.	.	.	.	.	.	.	.	0.08333	1795.83	101	chr1	160841699	.	C	A	1795.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.105;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=1.44;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	5	0	1	0
chr1	160951222	160951222	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G262A:p.G88S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.100203296444	7.7e-05	.	6.728e-05	0	0.0003	0	0	4.544e-05	0	6.742e-05	8.41e-05	13	154602	rs372343513	0.0001	0.0001	9.807e-05	0.0001	0.0028	0.0001	9.421e-05	0.0017	0.0014	0.0002	0.0003	0	0	0	0.0028	0.0001	0.0002	2.322e-05	9.198e-05	9.192e-05	6.424e-05	0.0001	0.0001	5.527e-05	4.364e-05	7.909e-05	5.994e-05	7.239e-05	0	6.543e-05	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000089	0.51296	U	0.000000	0.986607	0.40458	D	3.7	0.94612	H	-3.74	0.95493	D	-5.98	0.89334	D	0.422	0.46180	1.086	0.99090	D	0.944	0.98180	D	10	0.5548988	0.64461	D	0.100203	0.77234	D	0.664	0.87479	.	.	0.980989907939	0.98078	0.7444064330230729	0.74386	0.640380169956	0.57670	0.412240087986	0.26766	T	0.305734	0.67797	T	0.0226717	0.54743	T	0.0965112	0.76675	D	0.953439772129059	0.64026	D	0.975902	0.91565	D	0.7419951	0.80406	0.6168804	0.77695	0.7419951	0.80408	0.6168804	0.77696	-10.033	0.74109	D	.	.	0.130	0.27821	B	.	.	3.882987	0.56447	23.7	0.99872384114935675	0.94989	0.85255	0.44372	D	AEFGBI	0.653705	0.62665	D	0.70002163070414	0.79631	7.119138	0.513766573211031	0.68913	5.28645	0.999997437113171	0.74766	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.584449	0.35598	0	.	.	3.85	3.85	0.43556	5.371000	0.65903	1.346000	0.25772	0.469000	0.21855	0.997000	0.40164	0.002000	0.18203	0.685000	0.33688	0.0:1.0:0.0:0.0	13.638	0.61707	620	0.66037	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1045.83	37	chr1	160951222	.	C	T	1045.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.945;DP=297;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.286;SOR=0.475	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	202.47	153	chr1	161048864	.	C	G	202.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.831;DP=954;ExcessHet=1.383;FS=196.336;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.727;SOR=9.624	GT:AD:DP:GQ:PL	0/0:150,0:150:22:0,22,2772	2	0	3	1
chr1	161053284	161053284	T	C	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon2:c.A107G:p.Q36R,ARHGAP30:NM_001287600:exon5:c.A194G:p.Q65R,ARHGAP30:NM_001025598:exon6:c.A638G:p.Q213R,ARHGAP30:NM_181720:exon6:c.A638G:p.Q213R	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00836040635555	0.0036	0.00139776	0.0053	0.0014	0.0013	0	0.0077	0.0081	0.0045	0.0014	0.004987	771	154602	rs139071778	0.0053	0.0053	0.0054	0.0052	0.0062	0.0052	0.0052	0.0061	0.0060	0.0009	0.0012	7.652e-05	0	0.0070	0.0009	0.0062	0.0044	0.0015	0.0034	0.0034	0.0034	0.0035	0.0052	0.0032	0.0031	0.0047	0.0046	0.0010	0	0.0029	0	0	0.0073	0	0.0052	0.0024	0.0006	0.026	0.65419	D	0.098	0.76473	T	0.011	0.15914	B	0.026	0.20792	B	0.000384	0.44960	N	0.149609	0.939524	0.37264	D	1.445	0.36358	L	2.8	0.35775	T	-2.86	0.60188	D	0.297	0.41952	-1.0954	0.04695	T	0.038	0.16505	T	10	0.010070443	0.00225	T	0.00836	0.22130	T	0.045	0.12272	.	.	0.353352923073	0.34951	0.8469040497389935	0.84651	0.67402453772	0.59623	0.494740366936	0.38097	T	0.21516	0.57695	T	-0.484418	0.00697	T	-0.465023	0.26055	T	0.0339646911433421	0.02631	T	0.690331	0.29972	T	0.29369697	0.52334	0.29911172	0.55944	0.29369697	0.52334	0.29911172	0.55943	-8.984	0.67594	D	.	.	0.080	0.23360	B	.;.;.	.;.;.	2.936607	0.39031	20.9	0.99346743022903772	0.60412	0.89424	0.49880	D	AEFDGBCI	0.555297	0.56579	D	-0.151350550850968	0.35176	2.017255	-0.00616668818482429	0.39435	2.338207	0.999936780902352	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.27	4.09	0.47038	3.586000	0.53696	2.334000	0.32213	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1031:0.0:0.8969	8.415	0.31827	551	0.72115	Rho GTPase-activating protein domain;Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.1667	2032.06	48	chr1	161053284	.	T	C	2032.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.331;DP=371;ExcessHet=0.4139;FS=6.797;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.86;SOR=0.4	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1105,0,1863	4	0	2	0
chr1	161550029	161550029	T	G	exonic	FCGR3A	.	nonsynonymous SNV	FCGR3A:NM_001127592:exon1:c.A23C:p.Q8P,FCGR3A:NM_001329122:exon1:c.A23C:p.Q8P	Immunodeficiency 20, Autosomal recessive	440	1080	1	1	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373969655	0.0001	0.0001	9.231e-05	0.0001	0.0030	9.66e-05	8.754e-05	0.0016	0.0012	0.0004	0	0	0	0	0.0030	0.0001	0.0002	4.333e-05	0.0001	0.0001	7.717e-05	0.0001	0.0002	6.515e-05	5.326e-05	7.884e-05	5.583e-05	0.0002	0	0	0	0	0	0.0068	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08793667	0.15094	T	.	.	.	.	.	.	.	.	.	0.0439502151765448	0.04339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211579	0.02577	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36295	B	.	.	0.284045	0.06609	3.101	0.52954010824862607	0.04846	0.03659	0.08916	N	AEFBI	.	.	.	.	.	.	.	.	.	0.991703901675172	0.32580	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.0476178	0.06944	2.8	-2.68	0.05686	-0.116000	0.10697	0.054000	0.14040	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3956:0.257:0.0:0.3474	2.296	0.03896	884	0.28482	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	575.83	38	chr1	161550029	.	T	G	575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.685;DP=199;ExcessHet=0;FS=1.7;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.354;SOR=0.356	GT:AD:DP:GQ:PL	0/0:36,0:36:72:0,72,1080	5	0	1	0
chr1	161550049	161550049	C	T	exonic	FCGR3A	.	startloss	FCGR3A:NM_001127592:exon1:c.G3A:p.M1?,FCGR3A:NM_001329122:exon1:c.G3A:p.M1?	Immunodeficiency 20, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361147348	0.0003	0.0002	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0	0	6.529e-05	0	0	7.661e-05	0.0002	0.0026	0.0001	0.0011	0.0001	0.0002	0.0021	9.871e-05	8.366e-05	0.0012	0.0009	4.869e-05	0	6.685e-05	0.0003	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.91	0.01413	T	0.08	0.06026	N	.	.	.	.	.	.	.	.	.	0.17027545	0.31681	T	.	.	.	.	.	.	.	.	.	0.003517549103997282	0.00328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.059933	0.03885	0.849	0.285415567651847	0.01470	0.01009	0.03809	N	AEFBI	.	.	.	.	.	.	.	.	.	0.976983464129967	0.29777	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.046875	0.06002	2.69	0.183	0.14365	0.189000	0.16845	-0.119000	0.11742	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.477:0.523:0.0:0.0	6.974	0.23844	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	38	chr1	161550049	.	C	T	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=171;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.083;MQ=58.39;MQRankSum=-4.479;QD=4.62;ReadPosRankSum=-0.837;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:48:.:.:0,48,720:.	5	0	1	0
chr1	161550050	161550050	A	T	exonic	FCGR3A	.	startloss	FCGR3A:NM_001127592:exon1:c.T2A:p.M1?,FCGR3A:NM_001329122:exon1:c.T2A:p.M1?	Immunodeficiency 20, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413912224	0.0003	0.0002	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0	0	6.563e-05	0	0	8.11e-05	0.0002	0.0026	0.0001	0.0011	0.0001	0.0002	0.0021	9.877e-05	8.371e-05	0.0012	0.0009	4.876e-05	0	6.701e-05	0.0003	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.82	0.01504	T	-0.29	0.11728	N	.	.	.	.	.	.	.	.	.	0.16292271	0.30521	T	.	.	.	.	.	.	.	.	.	0.011952954951393344	0.01155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062735	0.04731	1.362	0.58007394873161344	0.05896	0.00389	0.01958	N	AEFBI	.	.	.	.	.	.	.	.	.	0.992511449364876	0.32867	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.046875	0.06002	2.69	-2.77	0.05529	-0.481000	0.06631	-0.295000	0.10161	-0.754000	0.03558	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3309:0.2199:0.4492:0.0	4.190	0.09876	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	38	chr1	161550050	.	A	T	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=170;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.083;MQ=58.36;MQRankSum=-4.479;QD=4.62;ReadPosRankSum=-1.062;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:48:.:.:0,48,720:.	5	0	1	0
chr1	161713326	161713326	G	C	exonic	FCRLA	.	nonsynonymous SNV	FCRLA:NM_001184871:exon2:c.G321C:p.L107F,FCRLA:NM_001184872:exon3:c.G606C:p.L202F,FCRLA:NM_001184873:exon3:c.G474C:p.L158F,FCRLA:NM_001184867:exon4:c.G759C:p.L253F,FCRLA:NM_001184870:exon4:c.G624C:p.L208F,FCRLA:NM_001366196:exon4:c.G741C:p.L247F,FCRLA:NM_032738:exon5:c.G1026C:p.L342F,FCRLA:NM_001184866:exon6:c.G1044C:p.L348F,FCRLA:NM_001366195:exon6:c.G1041C:p.L347F	.	431	1087	2	0	2	4	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.00807320772606	.	0.000399361	5.77e-05	0.0002	0	0	0	5.998e-05	0.0011	0	7.12e-05	11	154602	rs61741808	0.0001	0.0001	0.0001	0.0001	0.0049	0.0001	0.0001	0.0034	0.0030	0.0011	0	0	0	0	0.0049	8.453e-05	0.0003	4.637e-05	9.192e-05	9.186e-05	8.995e-05	9.399e-05	9.627e-05	5.524e-05	4.362e-05	3.762e-05	2.575e-05	9.627e-05	0	0	0	0	0	0.0102	8.82e-05	0.0005	0	0.031	0.91255	D	0.064	0.92824	T	0.999	0.77913	D	0.996	0.84481	D	0.012259	0.29238	N	0.161766	0.500607	0.32736	D	.	.	.	0.82	0.48142	T	-2.54	0.71276	D	0.235	0.57690	-0.9725	0.36670	T	0.119	0.41756	T	10	0.11985159	0.22689	T	0.008073	0.21393	T	0.164	0.42212	0.431	0.48007	0.670406207196	0.66762	0.20217940115995628	0.20134	0.233751173166	0.25910	0.44554656744	0.31335	T	0.157044	0.49946	T	-0.257088	0.13242	T	-0.32763	0.41731	T	0.178225486053185	0.19122	T	0.939506	0.77228	D	.	.	.	.	.	.	.	.	-7.304	0.62962	T	.	.	0.218	0.66609	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.918943	0.57202	23.8	0.99825604785057309	0.90764	0.51983	0.29024	D	AEFBCI	0.273170	0.38863	N	0.188206529169569	0.50632	3.251426	0.125577043004354	0.45861	2.841888	0.988955268683057	0.31679	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.23	1.12	0.19700	1.157000	0.31335	2.973000	0.35807	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0899:0.3178:0.4285:0.1637	3.507	0.07253	782	0.47442	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	595.83	35	chr1	161713326	.	G	C	595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.185;DP=262;ExcessHet=0;FS=3.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-2.139;SOR=1.317	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	5	0	1	0
chr1	161802078	161802078	A	G	exonic	ATF6	.	nonsynonymous SNV	ATF6:NM_007348:exon7:c.A715G:p.T239A	Achromatopsia 7, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	696222	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0048	0.00339457	0.0012	0.0125	0.0009	0	0	5.996e-05	0	0	0.0011319	175	154602	rs141611945	0.0005	0.0005	0.0006	0.0005	0.0141	0.0005	0.0005	0.0131	0.0127	0.0141	0.0009	0	0	0	0.0064	0.0001	0.0013	6.956e-05	0.0038	0.0038	0.0037	0.0039	0.0129	0.0035	0.0034	0.0119	0.0116	0.0129	0	0.0016	0	0	0	0.0068	0.0002	0.0005	0.0004	0.993	0.01954	T	0.809	0.03956	T	0.0	0.02946	B	0.0	0.01387	B	0.061030	0.22203	N	0.506921	1	0.08975	N	0.42	0.12520	N	2.52	0.14160	T	-0.33	0.12472	N	0.066	0.03841	-0.9241	0.44985	T	0.004	0.01365	T	9	0.0016222596	0.00019	T	.	.	.	0.112	0.31546	.	.	0.238096912614	0.23440	0.2167497064635149	0.21590	0.140013901372	0.15777	0.377585858107	0.21914	T	0.117807	0.43816	T	-0.728851	0.00024	T	-0.807396	0.01724	T	0.00125526118529369	0.00012	T	0.610139	0.23115	T	0.043769546	0.06881	0.021143945	0.00176	0.043769546	0.06881	0.021143945	0.00176	-2.869	0.08837	T	0.12182327393400345	0.11604	0.052	0.00225	B	.	.	-0.600035	0.01572	0.104	0.71636375560198007	0.09696	0.03229	0.08242	N	AEFDGBHCI	0.027367	0.02223	N	-1.17083178183141	0.05446	0.248284	-1.11862708938391	0.07344	0.3568749	0.991914852032848	0.32653	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.75	-2.3	0.06399	-0.971000	0.03916	-1.764000	0.04769	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4251:0.1335:0.4415:0.0	6.879	0.23342	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.005051	0.002717	0.008772	0.000000	0.017241	0.000000	0.003788	0.08333	905.83	36	chr1	161802078	.	A	G	905.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.75;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.48;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1365	5	0	1	0
chr1	161998163	161998163	G	A	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon6:c.C1139T:p.S380L,OLFML2B:NM_001347700:exon6:c.C1142T:p.S381L,OLFML2B:NM_015441:exon6:c.C1136T:p.S379L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0236732459625	0.0003	.	0.0001	0	0.0002	0	0	0.0002	0	6.065e-05	0.0001164	18	154602	rs145215702	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	8.961e-05	8.944e-05	0	0	0	0.0005	0.0002	0.0003	6.957e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.813e-05	0	6.533e-05	0	0	0	0	0.0003	0.0005	0.0002	0.02	0.49613	D	0.185	0.28958	T	0.013	0.23796	B	0.002	0.12992	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	-2.17	0.86624	D	-1.28	0.32185	N	0.059	0.04188	-0.6598	0.62285	T	0.290	0.66192	T	8	0.06618631	0.09040	T	0.023673	0.46640	T	0.247	0.55478	.	.	0.693948434592	0.69131	0.28062100369744014	0.27975	0.116249446491	0.13114	0.313001334667	0.12361	T	0.008795	0.11486	T	-0.194162	0.21650	T	-0.198603	0.54779	T	0.0347115381833918	0.02759	T	0.552645	0.19087	T	0.054919355	0.10602	0.07719638	0.17173	0.054919355	0.10601	0.07719638	0.17173	-4.464	0.30414	T	.	.	0.078	0.11124	B	.;.	.;.	1.104259	0.14890	11.41	0.93622967023877057	0.23492	0.03006	0.07873	N	AEFBI	0.086113	0.17458	N	-0.719870585265354	0.15464	0.7795229	-0.713174218061703	0.16633	0.8808216	0.999816478333825	0.43459	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.39	4.39	0.52211	0.814000	0.26897	0.807000	0.21715	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.107:0.0:0.8929:0.0	8.158	0.30339	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1578.83	120	chr1	161998163	.	G	A	1578.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=313;ExcessHet=0;FS=3.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.011;SOR=1.012	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1473	5	0	1	0
chr1	162374071	162374071	C	T	exonic	SPATA46	.	nonsynonymous SNV	SPATA46:NM_182581:exon3:c.G763A:p.G255S	.	430	1065	27	0	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0011	0.00399361	0.0047	9.829e-05	0.0014	0.0002	0.0003	0.0023	0.0082	0.0290	0.0039262	607	154602	rs142892903	0.0026	0.0026	0.0018	0.0034	0.0231	0.0026	0.0025	0.0222	0.0219	0.0001	0.0012	0.0186	2.523e-05	0.0001	0.0152	0.0009	0.0041	0.0231	0.0018	0.0018	0.0015	0.0020	0.0170	0.0016	0.0015	0.0140	0.0129	0.0002	0	0.0017	0.0196	0	0	0.0170	0.0011	0.0038	0.0170	0.0	0.91255	D	0.829	0.03728	T	0.013	0.16609	B	0.002	0.06944	B	0.000687	0.00666	N	22.652400	1	0.08975	N	.	.	.	1.53	0.30401	T	0.53	0.02808	N	0.077	0.05162	-1.0336	0.19300	T	0.018	0.07518	T	9	0.0026496649	0.00041	T	.	.	.	0.062	0.17934	.	.	0.0806252709748	0.07271	0.10077974902179522	0.10008	0.0254765122315	0.02602	.	.	.	0.00414	0.03552	T	-0.682564	0.00046	T	-0.734979	0.04105	T	0.0328674922105393	0.02448	T	0.330567	0.06924	T	0.06320382	0.13284	0.099307574	0.23706	0.06320382	0.13284	0.099307574	0.23705	-2.764	0.07856	T	.	.	0.078	0.06803	B	.	.	0.163990	0.05541	2.000	0.44099521468355862	0.03366	0.02574	0.07120	N	ALL	0.112465	0.22229	N	-1.13096102416399	0.06099	0.2798527	-1.09724414263715	0.07754	0.3784419	1.0	0.98316	0.486886	0.10167	0	0.586423	0.34054	0	0.315538	0.05692	2	0.562822	0.20929	0	.	.	4.95	3.03	0.34070	0.087000	0.14801	-0.034000	0.12756	-0.479000	0.05073	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7476:0.1629:0.0895	7.747	0.28043	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.005051	0.006793	0.023392	0.000000	0.008621	0.015244	0.026515	0.08333	838.83	63	chr1	162374071	.	C	T	838.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.533;DP=251;ExcessHet=0;FS=3.442;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.316;SOR=1.074	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	5	0	1	0
chr1	163069254	163069254	G	T	exonic	RGS4	.	nonsynonymous SNV	RGS4:NM_001102445:exon2:c.G61T:p.A21S	.	417	1100	5	0	0	5	0.00226757	.	.	.	2329142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00990593748299	.	.	0.0007	0	0	0	0	0	0	0.0017	9.06e-05	14	154602	rs568489938	0.0001	0.0001	8.33e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0012	0	0	3.991e-05	0	0	0.0015	2.69e-05	0.0002	0.0016	7.887e-05	7.876e-05	3.857e-05	0.0001	0.0010	4.498e-05	3.513e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	7.353e-05	0	0.0010	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	0.4	0.57261	T	-0.06	0.07882	N	0.131	0.12627	-1.0347	0.18951	T	0.033	0.14073	T	8	0.009649575	0.00217	T	0.009906	0.25811	T	0.064	0.18567	0.214	0.13354	0.26547132957	0.26150	0.0699063980033322	0.06928	0.372228829988	0.38717	0.28360965848	0.08001	T	.	.	.	-0.616228	0.00116	T	-0.67696	0.07171	T	0.0273209629672393	0.01590	T	0.39926	0.10144	T	.	.	.	.	.	.	.	.	-3.753	0.20104	T	.	.	0.089	0.12037	B	.	.	1.146650	0.15341	11.78	0.93153903181100672	0.22803	0.15786	0.19081	N	ALL	0.158622	0.28431	N	-1.22836566662048	0.04592	0.2076101	-1.24416710562311	0.05217	0.248098	0.999999995582974	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.16	-2.34	0.06321	0.339000	0.19617	1.856000	0.29290	-0.151000	0.12117	0.001000	0.13787	0.997000	0.33255	0.397000	0.26714	0.0:0.5856:0.294:0.1204	10.123	0.41808	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	.	.	.	.	.	.	.	.	0.08333	621.83	34	chr1	163069254	.	G	T	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.455;DP=212;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.287;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	5	0	1	0
chr1	165698533	165698533	G	C	exonic	ALDH9A1	.	nonsynonymous SNV	ALDH9A1:NM_000696:exon1:c.C26G:p.A9G	.	314	1203	4	1	0	6	0.00248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0455645472359	0.0007	0.000199681	0.0014	0.0001	0.0012	0	0	0.0022	0	0.0003	0.0010931	169	154602	rs200210709	0.0012	0.0012	0.0012	0.0013	0.0100	0.0012	0.0012	0.0079	0.0072	0.0010	0.0011	0.0160	0	1.903e-05	0.0100	0.0010	0.0028	0.0003	0.0010	0.0010	0.0010	0.0011	0.0011	0.0009	0.0009	0.0009	0.0008	0.0003	0	0.0005	0.0173	0	0	0.0034	0.0011	0.0014	0.0002	0.277	0.15665	T	0.248	0.23845	T	0.0	0.02946	B	0.001	0.04355	B	0.732814	0.06380	N	1.142240	1	0.08975	N	.	.	.	-1.1	0.77336	T	-0.75	0.21003	N	0.14	0.13911	-1.0402	0.17253	T	0.077	0.30798	T	9	0.0043208897	0.00087	T	0.045565	0.62042	D	0.136	0.36778	.	.	0.101711395817	0.09552	0.6065807008922226	0.60589	0.139891026364	0.15765	0.520396649837	0.41682	T	0.015201	0.12798	T	-0.507881	0.00516	T	-0.547864	0.17530	T	0.00702031117500352	0.00080	T	0.294071	0.05417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	-0.617969	0.01523	0.098	0.92303666165189657	0.21695	0.03630	0.08873	N	ALL	0.052198	0.09295	N	-1.35637156236917	0.03059	0.1360745	-1.39813453698933	0.03272	0.1522896	0.999999999990267	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.69	-3.3	0.04692	-1.841000	0.01776	-3.094000	0.03066	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4274:0.1389:0.2931:0.1406	1.547	0.02412	887	0.27948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.005208	0.013587	0.017544	0.000000	0.008621	0.000000	0.000000	0.08333	307.83	38	chr1	165698533	.	G	C	307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.026;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.185;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:93:.:.:0,93,945:.	5	0	1	0
chr1	165698558	165698558	T	G	exonic	ALDH9A1	.	startloss	ALDH9A1:NM_000696:exon1:c.A1C:p.M1?	.	308	1177	36	1	0	38	0.0158863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0061	0.00199681	0.0101	0.0021	0.0111	0	0.0132	0.0140	0.0204	0.0032	0.0065394	1011	154602	rs201507277	0.0081	0.0081	0.0081	0.0082	0.0328	0.0080	0.0080	0.0289	0.0274	0.0024	0.0085	0.0079	2.576e-05	0.0083	0.0328	0.0088	0.0091	0.0032	0.0067	0.0067	0.0071	0.0063	0.0096	0.0063	0.0062	0.0090	0.0088	0.0020	0	0.0089	0.0058	0	0.0069	0.0408	0.0096	0.0100	0.0025	0.04	0.42199	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.073572	0.21338	N	0.438187	0.994799	0.42419	D	.	.	.	-0.79	0.73739	T	-0.1	0.08495	N	0.749	0.74826	-0.9202	0.45527	T	0.134	0.44778	T	8	0.00894779	0.00203	T	0.07247	0.71540	D	0.239	0.54358	0.601	0.73226	0.608395523695	0.60525	0.777426192557125	0.77692	.	.	.	.	.	0.005256	0.04698	T	-0.32339	0.06624	T	-0.229342	0.51836	T	0.0119583580450525	0.00188	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.026694	0.25760	16.88	0.7724722978309273	0.11797	0.19186	0.20562	N	ALL	0.015078	0.00270	N	-0.504319330862802	0.21940	1.168028	-0.484691908089164	0.22575	1.226818	0.999999999990933	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	4.33	3.1	0.34780	1.411000	0.34311	1.022000	0.23413	0.665000	0.62972	0.695000	0.28578	0.794000	0.26889	0.004000	0.06068	0.0:0.0:0.2287:0.7713	7.175	0.24915	887	0.27948	.	ALDH9A1|TMCO1	Muscle_Skeletal|Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026316	0.036458	0.036685	0.020468	0.100000	0.051724	0.024691	0.015152	0.08333	311.83	39	chr1	165698558	.	T	G	311.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.889;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:66:.:.:0,66,990:.	5	0	1	0
chr1	167094866	167094867	AC	-	exonic	STYXL2	.	frameshift deletion	STYXL2:NM_001080426:exon2:c.17_18del:p.T7Rfs*29	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.971e-05	0	0.0001	0	0	0.0001	0	0.0002	6.47e-05	10	154602	rs769678635	2.395e-05	2.394e-05	1.634e-05	3.165e-05	0.0002	1.739e-05	1.539e-05	0.0001	9.478e-05	0	4.48e-05	0	0	0	0	1.259e-05	4.97e-05	0.0002	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1029.79	33	chr1	167094865	.	GAC	G	1029.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.552;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=1.38;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1227	5	0	1	0
chr1	167128147	167128147	C	T	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.C3016T:p.R1006W	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0123054808378	7.7e-05	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs199872759	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	8.885e-05	7.053e-05	5.974e-05	2.236e-05	0	0	0	0.0002	6.295e-06	4.967e-05	0.0002	4.599e-05	4.597e-05	2.569e-05	6.725e-05	7.238e-05	2.109e-05	1.527e-05	1.919e-05	1.032e-05	7.238e-05	0	6.542e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.893	0.63340	P	0.007987	0.31082	N	0.149192	0.999996	0.08975	N	2.52	0.73523	M	3.84	0.03675	T	-1.64	0.39314	N	0.185	0.22228	-1.0589	0.12032	T	0.015	0.06186	T	10	0.142192	0.27010	T	0.012305	0.30749	T	0.137	0.36984	.	.	0.253205268125	0.24938	0.503555557159116	0.50277	0.049419998863	0.05411	0.390412271023	0.23728	T	0.046012	0.27296	T	-0.32753	0.06300	T	-0.448572	0.27854	T	0.323247879743576	0.25953	T	0.925507	0.72634	D	0.1461438	0.33469	0.14856291	0.35113	0.1461438	0.33469	0.14856291	0.35112	-7.675	0.58834	D	.	.	0.163	0.35972	B	.;.;.	.;.;.	2.884489	0.38179	20.7	0.98251961063786974	0.39585	0.06058	0.12029	N	AEFDBI	0.342722	0.43878	N	-0.641080168169311	0.17721	0.9142344	-0.84100596038316	0.13503	0.7008637	0.288150875200331	0.19058	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	-0.00932	0.13325	0.988000	0.29216	-0.133000	0.11598	-0.893000	0.02373	0.397000	0.26145	0.000000	0.08366	0.863000	0.40966	0.6517:0.3483:0.0:0.0	17.401	0.87351	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2657.83	181	chr1	167128147	.	C	T	2657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.96;DP=383;ExcessHet=0;FS=7.406;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.499;SOR=0.625	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	5	0	1	0
chr1	167704680	167704680	A	G	exonic	RCSD1	.	nonsynonymous SNV	RCSD1:NM_001322924:exon5:c.A1073G:p.Q358R,RCSD1:NM_001322923:exon6:c.A1145G:p.Q382R,RCSD1:NM_052862:exon7:c.A1235G:p.Q412R	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00515535724668	0.0004	0.000998403	0.0008	0	0.0004	0	0	0.0002	0.0011	0.0044	0.0006274	97	154602	rs140531524	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	0	0.0009	8.46e-05	0.0003	0.0041	0.0003	0.0003	0.0002	0.0005	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0007	0	0.0002	0	0	0.0001	0	0.0056	0.006	0.61437	D	0.195	0.40747	T	0.005	0.12996	B	0.005	0.11217	B	0.050763	0.02016	N	2.642930	0.99996	0.19072	N	1.845	0.48678	L	0.81	0.48460	T	-0.86	0.23372	N	0.082	0.05799	-1.0570	0.12517	T	0.035	0.15160	T	10	0.0065693855	0.00149	T	0.005155	0.13094	T	0.025	0.05312	.	.	0.402755899245	0.39889	0.05460491962494422	0.05402	0.0314988076541	0.03265	0.324742853642	0.14139	T	0.026095	0.19381	T	-0.604788	0.00136	T	-0.641383	0.09568	T	0.0539171689378395	0.06174	T	0.548145	0.18826	T	0.10292332	0.24323	0.10690756	0.25727	0.10292332	0.24322	0.10690756	0.25726	-4.878	0.35487	T	.	.	0.096	0.15385	B	.;.	.;.	1.514216	0.19452	14.27	0.98277241530760862	0.39814	0.24620	0.22450	N	AEFBCI	0.131812	0.25088	N	-0.648247703504625	0.17512	0.9017377	-0.558727748787416	0.20574	1.109091	0.996294754586114	0.34649	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.18	2.78	0.31702	0.306000	0.19030	1.924000	0.29729	0.756000	0.94297	0.316000	0.25468	0.538000	0.25400	0.304000	0.24594	0.7477:0.0:0.0896:0.1627	4.837	0.12831	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	680.83	71	chr1	167704680	.	A	G	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.849;DP=246;ExcessHet=0;FS=3.421;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.83;SOR=1.255	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	5	0	1	0
chr1	169124994	169124994	A	C	exonic	ATP1B1	.	nonsynonymous SNV	ATP1B1:NM_001677:exon3:c.A337C:p.K113Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00539125532458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.104	0.38160	T	0.002	0.09854	B	0.001	0.04355	B	0.018857	0.27389	N	0.459148	0.607595	0.32593	D	0.09	0.08384	N	1.53	0.30401	T	0.03	0.06612	N	0.083	0.05929	-1.0523	0.13763	T	0.019	0.08033	T	9	0.14891803	0.28192	T	0.005391	0.13832	T	0.038	0.09825	0.459	0.52590	0.528219853349	0.52470	0.5927943117254878	0.59209	0.844893854615	0.68239	0.300244987011	0.10437	T	0.105206	0.41547	T	-0.279955	0.10672	T	-0.639913	0.09675	T	0.465413630008698	0.31363	T	0.772923	0.40417	T	0.08472668	0.19623	0.06753237	0.13984	0.08472668	0.19623	0.06753237	0.13983	-4.106	0.25379	T	.	.	0.106	0.19800	B	.;.;.	.;.;.	2.853577	0.37683	20.6	0.98703859220411916	0.44953	0.73601	0.36001	D	AEFDBI	0.443600	0.50084	N	-0.30273542344597	0.29043	1.607174	-0.133557282886895	0.34048	1.954174	0.994935508555241	0.33870	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	3.16	0.35406	0.506000	0.22367	4.055000	0.41540	0.756000	0.94297	0.459000	0.26636	1.000000	0.68203	0.998000	0.85391	0.733:0.0:0.1331:0.134	5.527	0.16255	639	0.64210	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1003.83	68	chr1	169124994	.	A	C	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.19;SOR=0.671	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr1	169424912	169424912	C	G	exonic	CCDC181	.	nonsynonymous SNV	CCDC181:NM_001300969:exon2:c.G16C:p.D6H,CCDC181:NM_021179:exon2:c.G16C:p.D6H,CCDC181:NM_001300968:exon3:c.G16C:p.D6H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00897877879641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.035	0.61642	D	0.997	0.70673	D	0.847	0.60522	P	0.064547	0.21945	N	0.519243	0.991826	0.23977	N	2.52	0.73523	M	1.8	0.25509	T	-2.68	0.67589	D	0.275	0.31365	-1.0457	0.15621	T	0.065	0.26702	T	9	0.129138	0.24569	T	0.008979	0.23655	T	0.063	0.18251	0.232	0.16005	0.193865811164	0.18958	0.046943735106109816	0.04637	0.483977636689	0.47326	0.38334774971	0.22730	T	0.046019	0.27299	T	-0.181193	0.23558	T	-0.498047	0.22551	T	0.947415769100189	0.62676	D	0.760024	0.38453	T	0.15265502	0.34642	0.16654947	0.38470	0.15265502	0.34641	0.16654947	0.38469	-5.334	0.41643	T	.	.	0.162	0.36275	B	.;.;.;.;.	.;.;.;.;.	2.832872	0.37348	20.5	0.99080988335265174	0.51954	0.81079	0.40560	D	AEFGBI	0.147733	0.27147	N	0.107841026101534	0.46828	2.917311	-0.00602051471754278	0.39442	2.338696	4.79960069306208E-4	0.07095	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	5.66	3.78	0.42629	0.889000	0.27917	1.831000	0.29115	0.599000	0.40250	0.691000	0.28541	0.959000	0.29258	0.887000	0.42601	0.1366:0.7208:0.0:0.1426	7.542	0.26915	544	0.72685	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	936.83	35	chr1	169424912	.	C	G	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.032;DP=227;ExcessHet=0;FS=4.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.852;SOR=1.339	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	5	0	1	0
chr1	169560706	169560706	C	T	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon4:c.G434A:p.G145D	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1303122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.204873407562	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs752741472	4.722e-05	4.72e-05	5.038e-05	4.402e-05	6.116e-05	3.795e-05	3.477e-05	4.9e-05	4.485e-05	0	0	0	0	0	0	6.116e-05	1.657e-05	0	1.973e-05	1.97e-05	3.857e-05	0	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.017	0.51248	D	0.102	0.38450	T	0.974	0.57829	D	0.807	0.58472	P	0.000019	0.62929	D	0.157195	0.995438	0.46009	D	3.215	0.89331	M	-6.09	0.99521	D	-5.17	0.83489	D	0.496	0.52918	1.090	0.99251	D	0.974	0.99185	D	9	0.97191554	0.96819	D	0.204873	0.86954	D	0.734	0.90721	0.924	0.98707	0.913040413464	0.91216	0.823711920094509	0.82328	0.530496566493	0.50589	0.522688508034	0.42004	T	0.741806	0.92855	D	0.205938	0.74447	D	0.0735252	0.75145	D	0.974015355110168	0.70332	D	0.826217	0.48957	T	0.41899857	0.62025	0.61325085	0.77495	0.41899857	0.62026	0.61325085	0.77496	-8.133	0.61973	D	0.803297619415861	0.87962	0.270	0.50370	B	.;.	.;.	4.345533	0.66695	25.0	0.99837930006135611	0.91886	0.88933	0.49107	D	AEFBI	0.420320	0.48719	N	0.536527150390024	0.69265	5.332574	0.466880253346825	0.65809	4.870806	0.999998157115176	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	3.874000	0.55814	5.937000	0.51416	0.549000	0.26987	0.984000	0.35821	1.000000	0.68203	0.902000	0.43815	0.0:0.9249:0.0:0.0751	13.459	0.60666	775	0.48401	Multicopper oxidase, type 3;Multicopper oxidase, type 3	.	.	.	.	.	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	1146.83	87	chr1	169560706	.	C	T	1146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.796;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.83;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	5	0	1	0
chr1	169876054	169876054	A	G	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_020423:exon4:c.T389C:p.V130A,SCYL3:NM_181093:exon4:c.T389C:p.V130A	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.134429817425	0.0012	0.00119808	0.0025	0.0002	0.0014	0	0.0029	0.0031	0.0011	0.0036	0.002335	361	154602	rs149229551	0.0019	0.0019	0.0018	0.0020	0.0036	0.0018	0.0018	0.0032	0.0031	0.0002	0.0014	0.0038	0	0.0022	0.0031	0.0018	0.0020	0.0036	0.0016	0.0016	0.0015	0.0016	0.0039	0.0014	0.0013	0.0026	0.0021	0.0002	0.0143	0.0013	0.0046	0	0.0016	0	0.0021	0.0014	0.0039	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.425	0.91960	M	-1.04	0.76561	T	-3.66	0.71639	D	0.845	0.85027	0.449	0.89813	D	0.641	0.87465	D	9	0.023034424	0.00591	T	0.13443	0.81686	D	0.815	0.94046	.	.	0.777902203524	0.77585	0.724757039704619	0.72419	0.838348222315	0.67911	0.687627434731	0.65365	T	0.222092	0.58584	T	0.0175693	0.54052	T	0.250671	0.85649	D	0.0797101259765346	0.09950	T	0.911409	0.69499	D	0.5889375	0.72093	0.6420084	0.79081	0.5889375	0.72094	0.6420084	0.79082	-9.207	0.69019	D	.	.	0.63	0.71382	P	.;.;.;.	.;.;.;.	4.961518	0.82045	27.7	0.99875459185199744	0.95244	0.98980	0.89484	D	AEFBI	0.864882	0.78381	D	0.847975610197684	0.88993	9.792196	0.804255172894076	0.90087	10.25075	0.999999905350496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	8.782000	0.91448	11.077000	0.85682	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.547	0.75846	552	0.72024	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	643.83	68	chr1	169876054	.	A	G	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.319;DP=237;ExcessHet=0;FS=2.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.92;SOR=0.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	5	0	1	0
chr1	170167735	170167735	T	C	exonic	METTL11B	.	nonsynonymous SNV	METTL11B:NM_001136107:exon4:c.T830C:p.L277P	.	433	1037	50	2	0	54	0.0253759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	.	0.0096	0.00379393	0.0122	0.0009	0.005	0	0.0021	0.0130	0.0112	0.0171	0.0027425	424	154602	rs144066772	0.0089	0.0085	0.0084	0.0094	0.0178	0.0088	0.0087	0.0150	0.0145	0.0015	0.0048	0.0126	2.798e-05	0.0011	0.0178	0.0093	0.0080	0.0155	0.0067	0.0067	0.0065	0.0069	0.0133	0.0064	0.0062	0.0107	0.0097	0.0015	0	0.0080	0.0130	0.0002	0.0009	0.0136	0.0102	0.0090	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.961	0.70482	D	0.000014	0.62929	D	0.145209	1	0.81001	D	2.92	0.84325	M	0.96	0.42888	T	-5.62	0.86758	D	0.847	0.84298	-0.4702	0.69718	T	0.241	0.60869	T	10	0.012806088	0.00274	T	.	.	.	0.620	0.85249	.	.	0.202086224978	0.19791	0.9918532488059894	0.99180	.	.	0.498373031616	0.38601	T	0.172237	0.52065	T	-0.0719823	0.41007	T	0.13615	0.79294	D	0.0186801547117924	0.00581	T	0.568143	0.20156	T	0.9848461	0.99457	0.94898534	0.98338	0.9848461	0.99457	0.94898534	0.98338	-12.908	0.88980	D	.	.	0.914	0.83719	P	.	.	4.620278	0.73354	26.0	0.99861864283003476	0.94002	0.99628	0.98136	D	AEFDBI	0.925043	0.90398	D	0.701806787569926	0.79750	7.144214	0.606312696634307	0.75399	6.30337	0.999999998258667	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.346000	0.78586	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.131000	0.19607	0.0:0.0:0.0:1.0	15.384	0.74403	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014286	0.000000	0.007246	0.008850	0.000000	0.000000	0.022472	0.024390	0.1667	3489.06	151	chr1	170167735	.	T	C	3489.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.735;DP=420;ExcessHet=0.4139;FS=0.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.549;SOR=0.617	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1403	4	0	2	0
chr1	171103875	171103875	C	T	exonic	FMO3	.	nonsynonymous SNV	FMO3:NM_001002294:exon3:c.C223T:p.P75S,FMO3:NM_006894:exon3:c.C223T:p.P75S,FMO3:NM_001319173:exon4:c.C163T:p.P55S	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0559970949651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.008	0.67890	D	0.669	0.41149	P	0.461	0.46460	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	0.08	0.61559	T	-6.71	0.92518	D	0.743	0.74280	-0.3866	0.72448	T	0.268	0.63908	T	10	0.818694	0.81088	D	0.055997	0.66441	D	0.424	0.73226	0.699	0.83592	0.616128506455	0.61303	0.7061599875267478	0.70557	0.218061680448	0.24340	0.494248509407	0.38029	T	0.069548	0.33736	T	0.126561	0.67024	D	-0.05598	0.66612	D	0.995392203330994	0.87345	D	0.867413	0.56831	D	0.55794144	0.70395	0.54589343	0.73750	0.55794144	0.70397	0.54589343	0.73751	-7.568	0.58087	D	0.5450301876973181	0.61423	0.202	0.47955	B	.;.	.;.	4.371565	0.67311	25.1	0.99802996285889312	0.88728	0.97642	0.76102	D	AEFGBI	0.966083	0.98847	D	0.31768943036904	0.57057	3.871678	0.226521279571504	0.51326	3.315933	0.999999999522694	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	7.846000	0.85175	5.811000	0.50008	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.515000	0.29359	0.0:1.0:0.0:0.0	17.247	0.86914	717	0.55835	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1388.83	144	chr1	171103875	.	C	T	1388.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.144;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.664;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	5	0	1	0
chr1	172585896	172585896	G	A	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon16:c.G1495A:p.A499T,SUCO:NM_016227:exon16:c.G2059A:p.A687T,SUCO:NM_014283:exon17:c.G1606A:p.A536T	.	435	1077	10	0	0	10	0.00462107	.	.	.	2099718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	0.00193043638133	7.7e-05	0.00179712	0.0012	0	8.643e-05	0	0	0.0001	0	0.0086	0.0010479	162	154602	rs142806667	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0073	0.0071	0	0	0	2.532e-05	0	0.0019	3.242e-05	0.0006	0.0078	0.0004	0.0004	0.0002	0.0005	0.0108	0.0003	0.0003	0.0084	0.0076	0	0	0	0	0	0	0	8.824e-05	0.0005	0.0108	0.432	0.49613	T	0.346	0.46406	T	0.079	0.24468	B	0.032	0.22131	B	0.139637	0.18337	N	0.590879	0.980869	0.25081	N	0.665	0.16292	N	.	.	.	0.38	0.10480	N	0.176	0.18920	-1.0713	0.09129	T	0.039	0.16763	T	9	0.0049277544	0.00106	T	0.00193	0.03430	T	0.062	0.17934	.	.	0.244539031024	0.24083	0.08024004455425406	0.07959	0.187617087801	0.21079	0.357427626848	0.19011	T	0.00407	0.40479	T	-0.420183	0.01706	T	-0.372195	0.36632	T	0.0472166095703402	0.05003	T	0.80432	0.46746	T	0.088561244	0.20663	0.07265791	0.15702	0.088561244	0.20662	0.07265791	0.15701	-3.277	0.13442	T	.	.	0.068	0.02797	B	.;.;.;.	.;.;.;.	2.145352	0.27324	17.42	0.99205784317690127	0.55442	0.71238	0.34928	D	AEFBCI	0.131168	0.25000	N	-0.10528492925385	0.37163	2.158112	0.0206025082375364	0.40672	2.431114	0.99998788381876	0.51787	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.2	4.27	0.50009	1.755000	0.38008	2.459000	0.32846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1465:0.7016:0.1519	10.379	0.43282	473	0.77910	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001554	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	730.83	33	chr1	172585896	.	G	A	730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.472;DP=244;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.813;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1017	5	0	1	0
chr1	175098538	175098538	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon9:c.G2062T:p.V688L	.	409	1099	11	3	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0129792	0.0069	9.612e-05	0.0003	0.0013	0	0.0002	0.0022	0.0487	0.0060478	935	154602	rs149504279	0.0029	0.0029	0.0016	0.0042	0.0452	0.0028	0.0028	0.0441	0.0436	0.0001	8.944e-05	0	0.0014	0	0.0024	7.824e-05	0.0033	0.0452	0.0017	0.0017	0.0011	0.0024	0.0508	0.0016	0.0015	0.0456	0.0436	7.219e-05	0	0	0	0.0015	0	0	0.0001	0	0.0508	0.175	0.22400	T	0.207	0.26969	T	0.975	0.58077	D	0.942	0.67772	D	0.000327	0.45700	D	0.199290	0.990747	0.41226	D	1.41	0.35535	L	-0.64	0.72125	T	-0.54	0.16598	N	0.537	0.56489	-0.5629	0.66293	T	0.357	0.71975	T	10	0.008049369	0.00183	T	.	.	.	0.330	0.65226	0.743	0.87486	0.862604737212	0.86127	0.31124368057556756	0.31037	0.260701197531	0.28632	0.43714928627	0.30187	T	0.003354	0.02758	T	-0.385104	0.02892	T	-0.291644	0.45600	T	0.0292466898942131	0.01874	T	0.845715	0.52486	T	0.07294253	0.16263	0.102985725	0.24697	0.07294253	0.16263	0.102985725	0.24697	-8.221	0.62566	D	.	.	0.382	0.58540	A	.	.	3.700298	0.52769	23.3	0.99735804925074412	0.83119	0.58488	0.30655	D	AEFDBI	0.187410	0.31470	N	0.0911687269453933	0.46052	2.851595	0.0926605778240921	0.44179	2.704688	0.0327117578301848	0.14068	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	1.006000	0.29449	11.688000	0.94314	0.618000	0.50648	0.672000	0.28366	1.000000	0.68203	0.914000	0.44937	0.0:0.2162:0.6316:0.1522	8.431	0.31919	665	0.61472	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005814	0.000000	0.002717	0.004098	0.000000	0.000000	0.000000	0.015152	0.08333	2510.83	36	chr1	175098538	.	G	T	2510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.551;SOR=0.722	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1424	5	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4922.72	72	chr1	175160810	.	C	*	4922.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.618;DP=357;ExcessHet=1.383;FS=6.122;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.966;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:33,0:50:99:1|0:175160788_C_CCTT:456,556,1846:175160788	3	0	3	0
chr1	176791432	176791432	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon19:c.C4970G:p.P1657R	.	430	990	99	3	0	105	0.0503597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0066	0.0101837	0.0138	0.0020	0.0273	0.0001	0.0074	0.0099	0.0122	0.0369	0.0123866	1915	154602	rs34602579	0.0082	0.0082	0.0069	0.0095	0.0386	0.0081	0.0080	0.0375	0.0371	0.0016	0.0228	0.0496	5.041e-05	0.0081	0.0328	0.0044	0.0115	0.0386	0.0079	0.0079	0.0072	0.0085	0.0349	0.0075	0.0073	0.0306	0.0289	0.0024	0.0099	0.0101	0.0498	0.0002	0.0099	0.0171	0.0068	0.0085	0.0349	0.022	0.48642	D	0.112	0.37037	T	0.715	0.42183	P	0.288	0.40614	B	0.000083	0.51296	D	0.130773	0.950107	0.26515	N	2.095	0.58118	M	4.49	0.02049	T	-2.06	0.47175	N	0.413	0.45331	-0.8622	0.51104	T	0.007	0.02399	T	10	0.003267467	0.00056	T	.	.	.	0.093	0.26882	.	.	.	.	0.7269670015442563	0.72640	0.198595925975	0.22241	0.285176694393	0.08225	T	0.24153	0.61007	T	-0.579169	0.00195	T	-0.57685	0.14826	T	0.0218216985432377	0.00889	T	0.50225	0.15758	T	0.059995424	0.12260	0.08987151	0.21042	0.059995424	0.12260	0.08987151	0.21042	-6.562	0.50762	T	.	.	0.077	0.06295	B	.	.	2.220156	0.28336	17.76	0.99272752400622866	0.57627	0.34067	0.24979	N	AEFI	0.189116	0.31638	N	-0.040508235531873	0.40027	2.370191	-0.0519351709435044	0.37406	2.189769	0.012405970498762	0.12323	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	2.696000	0.46719	2.603000	0.33533	0.597000	0.34315	0.022000	0.19841	0.025000	0.21018	0.769000	0.36481	0.3268:0.6732:0.0:0.0	11.376	0.48969	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.000000	0.016304	0.008772	0.000000	0.017241	0.042683	0.045455	0.08333	1106.83	33	chr1	176791432	.	C	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.04;DP=251;ExcessHet=0;FS=1.819;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.235;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	5	0	1	0
chr1	178853664	178853664	C	A	exonic	ANGPTL1	.	nonsynonymous SNV	ANGPTL1:NM_001376763:exon3:c.G947T:p.G316V,ANGPTL1:NM_004673:exon4:c.G947T:p.G316V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924	0.315673615602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.81	0.95479	H	-2.08	0.86010	D	-8.48	0.97265	D	0.965	0.98268	0.941	0.96258	D	0.874	0.95800	D	10	0.9889517	0.99337	D	0.315674	0.91321	D	0.924	0.98117	0.955	0.99502	0.952958176609	0.95245	0.9136645513164241	0.91341	0.506480053807	0.48849	0.696285843849	0.66607	T	0.491437	0.81580	T	0.45027	0.92493	D	0.409005	0.92400	D	0.999449789524078	0.97429	D	0.992126	0.97507	D	0.91829246	0.93083	0.92068976	0.96447	0.91829246	0.93084	0.92068976	0.96447	-10.57	0.77248	D	.	.	0.842	0.80861	P	.;.	.;.	4.981142	0.82510	27.8	0.99810280041082733	0.89442	0.98882	0.88116	D	AEFBI	0.918359	0.88731	D	1.08310960041763	0.97809	16.808	1.02129871775947	0.98999	20.21106	0.999999999992399	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.239	0.98368	440	0.80101	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	.	.	.	.	.	.	.	.	0.08333	1304.83	34	chr1	178853664	.	C	A	1304.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.116;DP=266;ExcessHet=0;FS=0.771;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.498;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr1	180196268	180196268	C	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon12:c.C1475A:p.P492H,QSOX1:NM_002826:exon12:c.C1475A:p.P492H	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0960057475869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396624860	6.173e-06	6.156e-06	6.817e-06	5.52e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.56e-05	0	0	0	0	0	0.0005	4.508e-06	0	1.162e-05	1.315e-05	1.313e-05	0	2.691e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.48186	D	0.055	0.46862	T	0.988	0.64070	D	0.886	0.62898	P	0.065121	0.21904	N	0.489979	0.611856	0.30853	N	2.615	0.76484	M	0.56	0.54540	T	-3.86	0.72471	D	0.158	0.23884	-0.3750	0.72808	T	0.291	0.66307	T	10	0.2832623	0.45906	T	0.096006	0.76528	D	0.093	0.26882	0.452	0.51448	0.649647786155	0.64673	0.24672952391082617	0.24586	0.501882001943	0.48560	0.326102793217	0.14345	T	0.197334	0.55397	T	-0.146266	0.28899	T	-0.432392	0.29663	T	0.916359901428223	0.57375	D	0.765923	0.40874	T	0.3379546	0.56116	0.31646436	0.57627	0.3379546	0.56116	0.31646436	0.57626	-6.25	0.53507	T	.	.	0.149	0.45323	B	.;.	.;.	3.646891	0.51738	23.1	0.99467314044365296	0.66154	0.51000	0.28794	D	AEFDBI	0.366492	0.45429	N	0.241379457677685	0.53214	3.491348	0.151521341702396	0.47223	2.955784	0.999913610726803	0.45857	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	4.53	0.55009	1.799000	0.38459	2.144000	0.30864	0.580000	0.29708	0.272000	0.25065	1.000000	0.68203	0.894000	0.43146	0.0:0.9151:0.0:0.0849	12.277	0.54057	791	0.46100	ERV/ALR sulfhydryl oxidase domain|ERV/ALR sulfhydryl oxidase 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	.	.	.	.	.	.	.	.	0.08333	1383.83	33	chr1	180196268	.	C	A	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.545;DP=283;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.089;SOR=0.462	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	5	0	1	0
chr1	180941064	180941064	A	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon7:c.A2938G:p.T980A	.	19	1476	24	3	0	30	0.0100604	.	.	.	2806212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0076	0.0061901	0.0086	0.0034	0.0106	0	0.0063	0.0108	0.0080	0.0065	0.0075678	1170	154602	rs201945338	0.0117	0.0097	0.0119	0.0115	0.0219	0.0116	0.0115	0.0182	0.0168	0.0033	0.0139	0.0044	0	0.0080	0.0219	0.0128	0.0142	0.0047	0.0086	0.0084	0.0087	0.0084	0.0189	0.0082	0.0080	0.0168	0.0160	0.0029	0.0012	0.0189	0.0039	0.0005	0.0041	0.0303	0.0111	0.0156	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.835255	0.09075	N	0.922088	1	0.08975	N	-2.215	0.00119	N	2.66	0.20255	T	1.27	0.00985	N	0.059	0.04188	-0.9400	0.42616	T	0.004	0.01125	T	9	0.0034906864	0.00062	T	.	.	.	0.045	0.12272	.	.	0.0138822411134	0.00435	0.0973136760446218	0.09662	0.205534111344	0.22973	0.315716296434	0.12772	T	3.09E-4	0.00078	T	-0.738076	0.00021	T	-0.822584	0.01401	T	0.00654906188324048	0.00073	T	0.275872	0.04729	T	0.02216447	0.00861	0.02993354	0.01387	0.02216447	0.00861	0.02993354	0.01387	-2.429	0.05314	T	.	.	0.073	0.06849	B	.;.	.;.	-0.218727	0.02997	0.451	0.3080931036934022	0.01704	0.00135	0.00831	N	AEFDB	0.018074	0.00520	N	-1.55839277211883	0.01486	0.06487531	-1.44364132447668	0.02828	0.130815	0.953078564946542	0.28053	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.21	0.672	0.17103	-0.150000	0.10174	0.372000	0.17687	-1.035000	0.01680	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2073:0.2481:0.3843:0.1603	1.150	0.01674	785	0.46916	.;.	.	.	.	.	.	Likely benign	0	0	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	0.019697	0.040404	0.019074	0.011765	0.000000	0.034483	0.012270	0.007576	0.08333	315.83	27	chr1	180941064	.	A	G	315.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.541;DP=198;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.549;SOR=1.096	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1079	5	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H,RGSL1:NM_001366934:exon19:c.G3062A:p.R1021H	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005319	0.017857	0.029915	0.083333	0.000000	0.005208	0.000000	0.08333	974.83	34	chr1	182551123	.	G	A	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=244;ExcessHet=0;FS=3.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.521;SOR=1.132	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1115	5	0	1	0
chr1	182602441	182602441	C	G	exonic	RGS16	.	nonsynonymous SNV	RGS16:NM_002928:exon3:c.G199C:p.D67H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.011416370923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.02	0.58613	D	0.993	0.65571	D	0.935	0.67021	D	0.002065	0.37317	N	0.341396	0.997634	0.44054	D	1.93	0.51437	L	1.4	0.33630	T	-3.54	0.68651	D	0.623	0.63798	-0.9259	0.44730	T	0.147	0.47147	T	10	0.79482603	0.78976	D	0.011416	0.29027	T	0.304	0.62510	0.62	0.75461	0.784716907932	0.78272	0.45996413251447826	0.45914	0.678872318326	0.59909	0.536081373692	0.43892	T	0.354301	0.72147	T	-0.0535651	0.43903	T	-0.314719	0.43150	T	0.978610932826996	0.72414	D	0.89841	0.64469	D	0.5317975	0.68933	0.40164545	0.64668	0.5317975	0.68934	0.40164545	0.64668	-8.29	0.63028	D	.	.	0.32	0.54507	B	.	.	4.178404	0.62878	24.5	0.99464095194328572	0.65944	0.92406	0.55638	D	AEFDBCI	0.399415	0.47470	N	0.428266174644054	0.62983	4.523449	0.377084827246897	0.60155	4.200028	0.999998974178425	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.23	3.3	0.36912	3.934000	0.56265	4.835000	0.45233	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.0:0.7681:0.148:0.0839	9.348	0.37285	809	0.43032	RGS domain|RGS domain|RGS domain|RGS 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	.	.	.	.	.	.	.	.	0.08333	586.83	35	chr1	182602441	.	C	G	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.342;DP=224;ExcessHet=0;FS=4.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.02;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	5	0	1	0
chr1	182806516	182806516	G	A	exonic	NPL	.	nonsynonymous SNV	NPL:NM_001200050:exon3:c.G158A:p.R53H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0132737795624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254260382	5.781e-06	5.472e-06	4.279e-06	7.322e-06	0.0002	2.49e-06	1.8e-06	7.4e-07	2.1e-07	0	2.801e-05	0	2.798e-05	0	0.0002	2.781e-06	1.726e-05	1.262e-05	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.338	0.18125	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-1.77	0.83660	D	-0.97	0.25770	N	0.09	0.06854	-0.7074	0.60080	T	0.345	0.71052	T	9	0.122164816	0.23171	T	0.013274	0.32542	T	0.172	0.43662	0.668	0.80602	0.247872288689	0.24386	.	.	.	.	.	.	.	.	.	.	-0.270218	0.11732	T	-0.503382	0.21998	T	0.027473084891702	0.01612	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.109	0.20896	B	.	.	0.408088	0.07791	4.480	0.57817247662865101	0.05853	0.06800	0.12824	N	AEFDGBHCI	0.048270	0.08220	N	-1.10916631223774	0.06479	0.2983818	-1.17311538342287	0.06361	0.3059989	0.878503990320674	0.25567	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.564101	0.26826	0	.	.	3.87	-0.136	0.12815	0.144000	0.15956	1.200000	0.24830	-0.735000	0.03699	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4592:0.0:0.5408:0.0	6.209	0.19831	406	0.82375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1217.83	34	chr1	182806516	.	G	A	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.305;DP=270;ExcessHet=0;FS=2.664;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.347;SOR=0.981	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1282	5	0	1	0
chr1	184037246	184037246	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.G112A:p.D38N,COLGALT2:NM_015101:exon1:c.G112A:p.D38N	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0027	0.00479233	0.0120	0.0014	0.0094	0	0.0453	0.0126	0.0099	0.0138	0.0052651	814	154602	rs150084895	0.0051	0.0052	0.0048	0.0054	0.0216	0.0050	0.0050	0.0183	0.0171	0.0007	0.0043	0.0024	2.619e-05	0.0248	0.0216	0.0041	0.0054	0.0112	0.0058	0.0059	0.0051	0.0066	0.0118	0.0055	0.0054	0.0093	0.0085	0.0007	0.0077	0.0035	0.0023	0	0.0232	0.0068	0.0070	0.0062	0.0118	0.165	0.23271	T	0.203	0.27325	T	0.355	0.33731	B	0.017	0.18140	B	0.128417	0.18732	U	0.382523	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.17	0.09627	N	0.205	0.22742	-0.9687	0.37468	T	0.134	0.44739	T	10	0.0023701787	0.00035	T	.	.	.	0.159	0.41286	.	.	0.750438010542	0.74818	0.3154112362772674	0.31454	0.307476924182	0.33042	0.718976080418	0.69897	T	0.011471	0.10227	T	-0.506178	0.00528	T	-0.48819	0.23581	T	0.0196489811530059	0.00668	T	0.593441	0.21910	T	0.13396578	0.31141	0.07665079	0.16999	0.13396578	0.31141	0.07665079	0.16998	-6.201	0.47931	T	.	.	0.079	0.07507	B	.;.	.;.	2.040364	0.25936	16.94	0.99615728071122844	0.75112	0.27546	0.23308	N	ALL	0.167023	0.29366	N	-0.624906000972439	0.18199	0.9428884	-0.578540715158823	0.20054	1.078686	0.999999999999989	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	0.629000	0.24229	3.634000	0.39325	0.499000	0.22661	0.113000	0.23048	0.813000	0.27056	0.926000	0.46234	0.0:1.0:0.0:0.0	11.624	0.50390	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022358	0.010526	0.016304	0.040936	0.150000	0.034483	0.012346	0.015267	0.08333	999.83	84	chr1	184037246	.	C	T	999.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.249;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.828;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,935	5	0	1	0
chr1	184796035	184796035	T	C	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.A1729G:p.S577G	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00639504073135	0.0006	0.00119808	0.0009	0.0001	8.737e-05	0.0001	0	0.0007	0	0.0038	0.0007956	123	154602	rs147077078	0.0007	0.0007	0.0006	0.0008	0.0044	0.0007	0.0007	0.0032	0.0031	0.0001	0.0002	0.0011	2.527e-05	0	0.0044	0.0006	0.0006	0.0035	0.0006	0.0006	0.0005	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0001	0	0.0008	0.0009	0	0	0	0.0006	0.0009	0.0048	0.068	0.35726	T	0.405	0.14771	T	0.976	0.58310	D	0.722	0.54942	P	0.002063	0.37317	N	0.341183	0.965931	0.25916	N	2.455	0.71248	M	2.81	0.10975	T	-1.57	0.37955	N	0.115	0.10340	-1.0710	0.09194	T	0.034	0.14683	T	10	0.008102179	0.00184	T	0.006395	0.16812	T	0.038	0.09825	.	.	0.510346895759	0.50673	0.14786637238149633	0.14708	0.293368524652	0.31762	0.368733018637	0.20650	T	0.186228	0.53945	T	-0.516746	0.00459	T	-0.515884	0.20713	T	0.104098024210432	0.12802	T	0.813219	0.46599	T	0.10479992	0.24775	0.100401625	0.24005	0.10479992	0.24775	0.100401625	0.24004	-5.582	0.42628	T	.	.	0.128	0.27161	B	.	.	3.535201	0.49623	22.8	0.99735428138570292	0.83119	0.73901	0.36147	D	AEFBI	0.265207	0.38238	N	0.392479718248568	0.61014	4.297012	0.433526379079357	0.63668	4.604964	0.81400020173335	0.24406	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.81	4.65	0.57626	3.588000	0.53712	3.540000	0.38999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.301:0.0:0.0:0.699	8.241	0.30820	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.007576	0.08333	780.83	37	chr1	184796035	.	T	C	780.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.874;DP=239;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.32;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	5	0	1	0
chr1	185181964	185181964	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.C1045T:p.L349F,SWT1:NM_017673:exon7:c.C1045T:p.L349F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0128921527203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.899744	0.36143	D	2.28	0.64929	M	1.28	0.35960	T	-2.19	0.49352	N	0.497	0.53620	-0.8454	0.52284	T	0.141	0.46183	T	10	0.36653662	0.53146	T	0.012892	0.31852	T	0.139	0.37390	0.3	0.26683	0.579890812634	0.57659	0.4388643738463488	0.43803	0.64846266349	0.58195	0.668325304985	0.62599	T	0.139142	0.47301	T	-0.0472299	0.44868	T	-0.305619	0.44127	T	0.954114615917206	0.64187	D	0.914109	0.69400	D	0.28956687	0.51952	0.24229378	0.49646	0.28956687	0.51952	0.24229378	0.49645	-10.017	0.74014	D	.	.	0.703	0.73078	P	.;.	.;.	4.859298	0.79503	27.1	0.99906513698964627	0.97726	0.68216	0.33718	D	AEFI	0.117897	0.23076	N	0.552752994831467	0.70252	5.474019	0.585626947852786	0.73907	6.048133	0.0846083622799005	0.15960	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	2.082000	0.41230	7.699000	0.66186	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9131:0.0:0.0869	11.765	0.51193	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	75.0	63	chr1	185181964	.	C	T	75.0	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.075;DP=374;ExcessHet=0;FS=100.848;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.65;SOR=7.222	GT:AD:DP:GQ:PL	0/0:57,0:57:45:0,45,1074	4	0	1	1
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V,PLA2G4A:NM_024420:exon16:c.A1909G:p.I637V	Phospholipase A2, group IV A, deficiency of (3)	421	1040	59	2	0	63	0.029398	.	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.041289	0.010101	0.044837	0.084795	0.050000	0.060345	0.024390	0.018939	0.1667	1693.04	33	chr1	186977737	.	A	G	1693.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.22;SOR=1.355	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1713,180,0	5	1	0	0
chr1	196258416	196258416	G	A	exonic	KCNT2	.	nonsynonymous SNV	KCNT2:NM_001287819:exon25:c.C2917T:p.R973C,KCNT2:NM_001287820:exon25:c.C2788T:p.R930C,KCNT2:NM_198503:exon26:c.C2989T:p.R997C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0177911499193	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs750292796	2.943e-05	2.942e-05	3.132e-05	2.751e-05	3.689e-05	2.217e-05	1.971e-05	2.744e-05	2.47e-05	0	0	0	0	3.748e-05	0	3.689e-05	0	0	6.577e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.011	0.70582	D	0.994	0.73220	D	0.646	0.60170	P	0.000011	0.62929	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.0	0.21473	T	-2.23	0.50012	N	0.425	0.46462	-0.8529	0.51767	T	0.178	0.52350	T	10	0.26703066	0.44211	T	0.017791	0.39625	T	0.220	0.51569	0.246	0.18139	0.117191471859	0.11215	0.8404780168432421	0.84007	1.36181686996	0.84354	0.732607662678	0.71888	T	0.112358	0.42857	T	0.150225	0.69289	D	-0.00650196	0.69912	D	0.777657329520261	0.44904	D	0.970603	0.89831	D	0.17621371	0.38522	0.12584665	0.30316	0.17621371	0.38522	0.12584665	0.30315	-7.158	0.58415	T	.	.	0.356	0.56990	A	.;.;.	.;.;.	4.487666	0.70070	25.5	0.99926098839163469	0.99103	0.93859	0.59398	D	AEFI	0.721058	0.67142	D	0.562431074842118	0.70842	5.561348	0.537338676882643	0.70522	5.517497	0.911471006113992	0.26368	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	1.524000	0.35549	2.270000	0.31824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.912	0.97028	485	0.77085	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	985.83	89	chr1	196258416	.	G	A	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=282;ExcessHet=0;FS=1.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.81;SOR=0.507	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	197101269	197101269	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T7982G:p.L2661R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	192035	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0241668418978	.	.	8.328e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs752132953	1.438e-05	1.505e-05	1.772e-05	1.101e-05	2.994e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	2.994e-05	0	0	0	0	0	1.8e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.356	0.17166	T	0.404	0.34945	B	0.118	0.32088	B	0.034664	0.01790	N	2.339110	1	0.08975	N	0.995	0.25082	L	-0.59	0.71543	T	-1.27	0.31981	N	0.494	0.52740	-0.9292	0.44256	T	0.198	0.55272	T	10	0.18222862	0.33492	T	0.024167	0.47155	T	0.152	0.39956	0.545	0.65873	0.274366138417	0.27033	0.010232815036581513	0.00985	.	.	0.260709106922	0.04976	T	0.032199	0.22383	T	-0.123565	0.32542	T	-0.415269	0.31618	T	0.126948704488158	0.15097	T	0.721628	0.33490	T	0.09374014	0.22025	0.08644684	0.20027	0.09374014	0.22024	0.08644684	0.20027	-7.302	0.56210	T	.	.	0.095	0.14979	B	.	.	-0.369329	0.02329	0.250	0.95133313389912211	0.26247	0.04385	0.09965	N	AEFBI	0.087671	0.17775	N	-1.06009589394265	0.07391	0.3431973	-1.15665281267164	0.06649	0.3207685	0.976600012788709	0.29740	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.87	-4.98	0.02794	-0.056000	0.11744	0.002000	0.13306	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.2856:0.4663:0.1349:0.1132	3.787	0.08222	177	0.93145	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	912.83	33	chr1	197101269	.	A	C	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.195;DP=242;ExcessHet=0;FS=1.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.657;SOR=0.583	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr1	197435276	197435276	T	G	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon7:c.T3077G:p.L1026W,CRB1:NM_201253:exon9:c.T3413G:p.L1138W,CRB1:NM_001257965:exon12:c.T3341G:p.L1114W	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.517599215434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.49117	D	0.041	0.62352	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.08975	N	2.27	0.64531	M	-1.97	0.88143	D	-2.71	0.57762	D	0.459	0.63628	0.123	0.84583	D	0.787	0.92779	D	9	0.50915086	0.61995	D	0.517599	0.95397	D	0.419	0.72855	0.5	0.59147	0.944388482369	0.94380	0.8007872652524053	0.80032	0.279544546936	0.30444	0.379131793976	0.22134	T	0.105088	0.90929	T	0.0509328	0.58464	T	-0.164615	0.57934	T	0.778885066509247	0.44981	D	0.836316	0.50742	T	0.09019787	0.21098	0.20502318	0.44653	0.09019787	0.21098	0.20502318	0.44652	-7.217	0.55603	T	0.6143121032701855	0.68215	0.135	0.29339	B	.;.;.;.;.	.;.;.;.;.	2.624096	0.34107	19.53	0.92420503655477004	0.21837	0.17882	0.20027	N	AEFI	0.399583	0.47481	N	0.221007715174156	0.52217	3.397361	0.0699265713088041	0.43045	2.61448	0.0719873453249951	0.15586	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.56	0.55644	1.802000	0.38490	-1.275000	0.05842	0.665000	0.62972	0.108000	0.22953	0.000000	0.08366	0.049000	0.15107	0.0:0.1333:0.0:0.8667	10.079	0.41552	353	0.85335	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	10889.8	34	chr1	197435276	.	T	G	10889.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.92;DP=795;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-0.704;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	5	0	1	0
chr1	200666230	200666230	G	A	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon1:c.C511T:p.H171Y,DDX59:NM_001031725:exon2:c.C511T:p.H171Y,DDX59:NM_001320181:exon2:c.C511T:p.H171Y,DDX59:NM_001349799:exon2:c.C511T:p.H171Y,DDX59:NM_001349800:exon2:c.C511T:p.H171Y,DDX59:NM_001349801:exon2:c.C511T:p.H171Y,DDX59:NM_001349802:exon2:c.C511T:p.H171Y,DDX59:NM_001349803:exon2:c.C511T:p.H171Y,DDX59:NM_001349804:exon2:c.C511T:p.H171Y	Orofaciodigital syndrome V, Autosomal recessive	433	1081	8	0	0	8	0.00368664	.	.	.	1385157	not_provided|Orofaciodigital_syndrome_V	MedGen:C3661900|MONDO:MONDO:0008267,MedGen:C1868118,OMIM:174300,Orphanet:2919	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0127233606135	0.0015	0.000998403	0.0009	0.0004	0.0003	0	0	0.0015	0.0011	6.056e-05	0.0010155	157	154602	rs149530427	0.0017	0.0017	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0.0004	0	5.616e-05	0.0012	0.0022	0.0014	1.159e-05	0.0010	0.0010	0.0013	0.0007	0.0018	0.0009	0.0008	0.0015	0.0015	0.0005	0	0.0005	0	0	0	0.0034	0.0018	0.0014	0	0.045	0.49117	D	0.036	0.54541	D	0.966	0.56202	D	0.642	0.52168	P	0.000000	0.84330	D	0.045990	0.997937	0.44335	D	3.63	0.94006	H	1.43	0.32958	T	-2.67	0.57110	D	0.495	0.52829	-0.7261	0.59159	T	0.179	0.52520	T	10	0.017672539	0.00379	T	0.012723	0.31538	T	0.165	0.42395	.	.	0.674889208036	0.67213	0.5418686269201746	0.54111	0.71948820848	0.62137	0.441221684217	0.30744	T	0.168226	0.51516	T	-0.356574	0.04327	T	-0.291138	0.45655	T	0.150108650326729	0.17113	T	0.89681	0.63970	D	0.36595932	0.58285	0.39060333	0.63851	0.36595932	0.58286	0.39060333	0.63851	-12.62	0.87739	D	0.39799706392547096	0.49023	0.258	0.49275	B	.;.	.;.	4.579592	0.72335	25.8	0.99727461510852899	0.82477	0.94303	0.60737	D	AEFDBIJ	0.616449	0.60301	D	0.707084274307901	0.80096	7.219414	0.682222085319825	0.81031	7.432364	0.999999984786295	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.654926	0.60358	0	.	.	5.33	5.33	0.75683	4.852000	0.62602	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.8549:0.145	14.768	0.69278	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1300.83	44	chr1	200666230	.	G	A	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.496;DP=295;ExcessHet=0;FS=5.833;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-2.76;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	5	0	1	0
chr1	200909309	200909309	C	T	exonic	INAVA	.	nonsynonymous SNV	INAVA:NM_001142569:exon8:c.C871T:p.R291C,INAVA:NM_001367289:exon8:c.C871T:p.R291C,INAVA:NM_001367290:exon8:c.C334T:p.R112C,INAVA:NM_018265:exon8:c.C1126T:p.R376C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0891935409217	.	0.000599042	8.541e-05	0	8.76e-05	0	0	0.0001	0	0	9.06e-05	14	154602	rs201070005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.97e-05	6.715e-05	0.0003	0.0001	0	0.0002	0.0002	0.0002	1.162e-05	0.0001	0.0001	0.0001	0.0001	0.0001	7.085e-05	5.742e-05	7.91e-05	5.995e-05	4.809e-05	0	6.533e-05	0.0012	0	0	0	0.0001	0	0	0.0	0.91255	D	0.003	0.76473	D	0.997	0.70673	D	0.765	0.56630	P	0.212695	0.16327	N	0.578700	0.999984	0.18198	N	.	.	.	0.49	0.55775	T	-5.28	0.84246	D	0.393	0.43417	-0.7297	0.58979	T	0.258	0.62811	T	10	0.07256979	0.10849	T	0.089194	0.75279	D	0.227	0.52620	.	.	0.213499824651	0.20940	0.2756103164107242	0.27474	0.636961766817	0.57451	.	.	.	0.161744	0.50612	T	-0.125553	0.32219	T	-0.138689	0.60232	T	0.292702329116665	0.24702	T	0.718628	0.33152	T	0.13361841	0.31072	0.13434383	0.32193	0.13361841	0.31072	0.13434383	0.32192	-6.196	0.47890	T	0.7088998042079206	0.78885	0.093	0.17657	B	.;.	.;.	3.374707	0.46651	22.3	0.99902194250537457	0.97350	0.02861	0.07626	N	AEFDGBHCI	0.122736	0.23801	N	0.142229430182477	0.48444	3.056645	-0.00045789086644496	0.39695	2.357571	0.999999998307114	0.74766	0.706548	0.73137	0	0.296712	0.05252	1	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	0.528000	0.22711	1.062000	0.23729	-0.190000	0.09434	0.003000	0.16062	0.000000	0.08366	0.277000	0.23942	0.1826:0.8174:0.0:0.0	11.252	0.48266	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	732.83	34	chr1	200909309	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.16;SOR=0.787	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1155	5	0	1	0
chr1	201047218	201047218	T	C	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon38:c.A4565G:p.K1522R	Hypokalemic periodic paralysis, type 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1883413	Hypokalemic_periodic_paralysis,_type_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.838	0.100838529506	.	.	9.063e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs763242241	3.215e-05	3.215e-05	1.497e-05	4.95e-05	0.0005	2.478e-05	2.22e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0	2.698e-06	4.967e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.087615	0.999983	0.54805	D	2.05	0.56469	M	-3.28	0.93691	D	-2.79	0.59059	D	0.781	0.77789	0.958	0.96517	D	0.879	0.95979	D	10	0.7276459	0.74081	D	0.100839	0.77336	D	0.838	0.94914	0.676	0.81398	0.946230323446	0.94566	0.7378603442488704	0.73731	0.481987173226	0.47167	0.753767728806	0.75002	T	0.095516	0.85839	T	0.0716689	0.61052	D	0.181327	0.82069	D	0.704487502574921	0.40933	D	0.950005	0.80823	D	0.9330398	0.94542	0.8856247	0.93957	0.9330398	0.94542	0.8856247	0.93957	-13.343	0.90727	D	0.6932864312922904	0.77130	0.463	0.62864	A	.;.	.;.	5.255758	0.88249	29.5	0.99905462899083231	0.97651	0.98177	0.80270	D	AEFGBI	0.929301	0.91485	D	0.766695333961177	0.83987	8.163737	0.725903102116991	0.84346	8.266315	0.999992696715675	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	7.667000	0.82852	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.109	0.72014	900	0.24599	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ domain;Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ 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	.	.	.	.	.	.	.	.	0.08333	1336.83	36	chr1	201047218	.	T	C	1336.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.807;DP=283;ExcessHet=0;FS=6.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.591;SOR=0.735	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr1	201065897	201065897	C	T	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon22:c.G2794A:p.V932M	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	823197	Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1	MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.0703315784143	0.0002	.	2.54e-05	9.942e-05	0	0.0001	0	1.533e-05	0	0	1.94e-05	3	154602	rs373701906	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0004	1.61e-05	1.416e-05	0.0002	0.0002	0.0002	0	0	0.0004	0	0	8.094e-06	0	2.319e-05	3.287e-05	3.283e-05	2.57e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.64	0.05293	T	0.575	0.08654	T	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.060487	0.999176	0.46249	D	1.54	0.38927	L	-4.85	0.98245	D	0.08	0.09297	N	0.434	0.47301	0.668	0.92767	D	0.890	0.96348	D	10	0.3013562	0.47678	T	0.070332	0.70974	D	0.557	0.81774	.	.	0.883532278865	0.88239	0.7274660362911376	0.72690	0.527081435524	0.50316	0.821050643921	0.85189	D	0.302559	0.74834	T	-0.0536183	0.43898	T	0.00521426	0.70674	D	0.206070688354174	0.20747	T	0.934906	0.75551	D	0.11460588	0.27055	0.13028768	0.31309	0.11460588	0.27054	0.13028768	0.31309	-2.673	0.07079	T	0.07059161214126837	0.02740	0.182	0.39545	B	.;.	.;.	5.239978	0.87964	29.4	0.79951484352974078	0.12976	0.92892	0.56803	D	AEFDBI	0.625397	0.60861	D	-0.0538462581921117	0.39431	2.325167	-0.0273004226895412	0.38486	2.268154	0.733166087904626	0.23085	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.2	3.27	0.36580	4.671000	0.61283	0.016000	0.13516	-0.234000	0.07639	1.000000	0.71638	0.001000	0.17328	0.978000	0.57271	0.1574:0.8426:0.0:0.0	13.533	0.61092	917	0.20147	Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.08333	1464.83	34	chr1	201065897	.	C	T	1464.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.286;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1475,0,1004	5	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3178.75	244	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	3178.75	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.09;DP=1280;ExcessHet=1.7609;FS=5.4;MLEAC=2;MLEAF=0.5;MQ=54.71;MQRankSum=-7.711;QD=10;ReadPosRankSum=-4.418;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:125,0:195:99:0|1:201209776_A_G:2473,2849,7998:201209776	1	0	1	4
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	901.79	272	chr1	201209836	.	T	TGGGTTC	901.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=1386;ExcessHet=0;FS=0.511;MLEAC=1;MLEAF=0.083;MQ=53.05;MQRankSum=-10.08;QD=3.38;ReadPosRankSum=-5.76;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:189,0:189:99:.:.:0,120,1800:.	5	0	1	0
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3093.94	276	chr1	201209837	.	A	AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	3093.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.607;DP=1511;ExcessHet=0.6695;FS=2.646;MLEAC=2;MLEAF=0.5;MQ=52.42;MQRankSum=-8.28;QD=6.14;ReadPosRankSum=-0.916;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:237:99:.:.:2192,2624,7342:.	1	0	1	4
chr1	201212928	201212928	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G8035A:p.G2679S	.	409	1092	21	0	0	21	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.124958243734	.	0.000798722	0.0029	0.0006	0.0025	0	0	0.0001	0	0.0064	0.0004269	66	154602	rs182559666	0.0007	0.0006	0.0005	0.0009	0.0065	0.0006	0.0006	0.0060	0.0058	6.33e-05	0.0005	0.0005	0	0	0.0063	0.0003	0.0008	0.0065	0.0006	0.0006	0.0004	0.0008	0.0089	0.0005	0.0004	0.0068	0.0060	0.0002	0	0.0005	0.0003	0	0	0.0068	0.0004	0.0009	0.0089	0.001	0.78490	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-0.7	0.72785	T	-0.97	0.25770	N	0.102	0.08506	-1.0375	0.18078	T	0.041	0.17827	T	7	0.0079502165	0.00181	T	0.124958	0.80639	D	0.096	0.27654	.	.	0.356690202451	0.35275	0.3098377268120361	0.30896	.	.	0.302698194981	0.10803	T	.	.	.	-0.432643	0.01429	T	-0.390792	0.34458	T	0.0728294545753524	0.09043	T	0.50265	0.15781	T	.	.	.	.	.	.	.	.	-4.063	0.24743	T	.	.	0.154	0.34071	B	.	.	2.861956	0.37813	20.6	0.98888428553666308	0.47948	0.11089	0.16400	N	AEFDGBI	0.093735	0.18961	N	-0.532946349627233	0.21022	1.112559	-0.610896047065675	0.19213	1.029839	2.89720902270597E-4	0.06355	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.01	3.01	0.33872	0.837000	0.27212	4.012000	0.41171	0.608000	0.46601	0.001000	0.13787	0.965000	0.29475	0.013000	0.09966	0.1488:0.0:0.8512:0.0	5.820	0.17776	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	0.008721	0.000000	0.008197	0.012712	0.000000	0.000000	0.000000	0.035714	0.08333	1084.83	38	chr1	201212928	.	G	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.559;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.735;SOR=0.631	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr1	201224820	201224820	C	-	exonic	IGFN1	.	stopgain	IGFN1:NM_001164586:exon21:c.10432delC:p.L3478*,IGFN1:NM_001367841:exon22:c.3061delC:p.L1021*	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.709e-05	0	0	1.514e-05	0	0.0011	0.0001294	20	154602	rs781022031	8.278e-05	8.277e-05	3.131e-05	0.0001	0.0014	7.069e-05	6.618e-05	0.0012	0.0011	0	0	0	0	0	0	1.799e-06	3.311e-05	0.0014	5.909e-05	5.905e-05	1.285e-05	0.0001	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1214.79	38	chr1	201224819	.	GC	G	1214.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.982;DP=246;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.54;SOR=0.874	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A	.	416	1091	15	0	0	15	0.00682749	.	.	.	4020796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.006793	0.020468	0.000000	0.000000	0.018293	0.000000	0.08333	1061.83	61	chr1	201386508	.	T	C	1061.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.584;DP=277;ExcessHet=0;FS=0.888;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.251;SOR=0.862	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1068	5	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	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	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.08333	1354.83	35	chr1	201387170	.	C	T	1354.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.551;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.92;ReadPosRankSum=1.1;SOR=0.608	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1459	5	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T,RNPEP:NM_001319184:exon10:c.G1018A:p.A340T,RNPEP:NM_001319182:exon11:c.G1495A:p.A499T,RNPEP:NM_020216:exon11:c.G1888A:p.A630T	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.003788	0.1667	1131.06	71	chr1	202005651	.	G	A	1131.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.93;DP=271;ExcessHet=0.4139;FS=11.589;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.42;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	4	0	2	0
chr1	202318611	202318611	G	A	exonic	LGR6	.	nonsynonymous SNV	LGR6:NM_001017404:exon16:c.G1891A:p.A631T,LGR6:NM_001017403:exon18:c.G2308A:p.A770T,LGR6:NM_021636:exon18:c.G2152A:p.A718T	.	407	1109	6	0	0	6	0.00269784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0218890172682	0.0015	0.000798722	0.0021	0.0003	0.0014	0	0.0021	0.0027	0.0011	0.0027	0.0020051	310	154602	rs145532673	0.0024	0.0024	0.0024	0.0025	0.0038	0.0024	0.0023	0.0026	0.0026	0.0003	0.0013	7.653e-05	0	0.0024	0.0038	0.0027	0.0027	0.0023	0.0018	0.0018	0.0018	0.0018	0.0031	0.0016	0.0016	0.0023	0.0022	0.0003	0.0033	0.0027	0.0003	0.0002	0.0020	0	0.0026	0.0009	0.0031	0.075	0.38633	T	0.2	0.27591	T	0.357	0.43734	B	0.106	0.31143	B	0.000037	0.55875	N	0.121353	0.990747	0.41226	D	1.245	0.31408	L	1.45	0.32482	T	-1.3	0.32590	N	0.165	0.25253	-1.0796	0.07426	T	0.033	0.14377	T	10	0.012434334	0.00267	T	0.021889	0.44718	T	0.051	0.14325	.	.	0.541962755691	0.53850	0.5826384079163838	0.58192	0.312136574515	0.33514	0.573620736599	0.49189	T	0.141106	0.47600	T	-0.486854	0.00676	T	-0.476412	0.24828	T	0.0235194981501836	0.01086	T	0.753825	0.40231	T	0.0836811	0.19335	0.14448987	0.34301	0.0836811	0.19335	0.14448987	0.34301	-4.442	0.30122	T	.	.	0.079	0.11654	B	.;.;.	.;.;.	2.738356	0.35860	20.1	0.99649778343120643	0.77192	0.84184	0.43267	D	AEFDBCI	0.301882	0.41028	N	-0.196225258331606	0.33291	1.887065	-0.0804998199495162	0.36196	2.103464	0.999285886400626	0.39007	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.19	3.28	0.36691	1.906000	0.39518	1.247000	0.25145	0.614000	0.49286	0.992000	0.37556	0.082000	0.22400	0.999000	0.91618	0.0859:0.0:0.7492:0.1649	7.450	0.26402	517	0.74620	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.005435	0.017544	0.000000	0.000000	0.000000	0.000000	0.08333	1157.83	76	chr1	202318611	.	G	A	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.848;DP=403;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.455;SOR=0.99	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q,KDM5B:NM_006618:exon15:c.G2198A:p.R733Q,KDM5B:NM_001314042:exon16:c.G2306A:p.R769Q	.	429	1062	29	2	0	33	0.015299	0.9976	0.922	YES	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	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	0.009567	0.000000	0.006793	0.008772	0.000000	0.008621	0.015244	0.015152	0.08333	684.83	72	chr1	202746142	.	C	T	684.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.473;DP=374;ExcessHet=0;FS=1.153;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.341;SOR=0.446	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	0	1	0
chr1	203712128	203712128	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365783:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365784:exon13:c.G2200A:p.E734K,ATP2B4:NM_001684:exon13:c.G2200A:p.E734K	.	392	1122	7	1	0	9	0.00399467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.15961621119	.	.	1.662e-05	0	0	0	0	3.018e-05	0	0	1.29e-05	2	154602	rs767252454	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.85e-06	8.42e-06	0.0001	7.578e-05	0	0	0	2.519e-05	0	0.0005	1.529e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.123	0.27544	T	0.172	0.30241	T	0.522	0.37544	P	0.23	0.38212	B	0.000068	0.52346	D	0.000000	1	0.81001	D	1.1	0.28011	L	-4.37	0.97343	D	-2.55	0.55181	D	0.677	0.68429	1.000	0.97188	D	0.889	0.96308	D	10	0.6508374	0.69593	D	0.159616	0.83978	D	0.719	0.90056	0.506	0.60078	0.728539117464	0.72613	0.6630601337283123	0.66243	1.09264733632	0.77486	0.723170399666	0.70508	T	.	.	.	0.299337	0.82915	D	0.255847	0.85896	D	0.846108078956604	0.49833	D	0.959604	0.84807	D	.	.	.	.	.	.	.	.	-8.212	0.62633	D	.	.	0.208	0.43435	B	.;.;.	.;.;.	4.960152	0.82006	27.7	0.99923866938744876	0.98917	0.99593	0.97790	D	AEFDBI	0.880162	0.80662	D	0.533246543680304	0.69067	5.304861	0.630452243532627	0.77161	6.626581	0.999999999999856	0.74766	0.719381	0.83141	0	0.593476	0.48661	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.51	5.51	0.81769	9.875000	0.98483	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.031	0.92939	598	0.68232	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	977.83	41	chr1	203712128	.	G	A	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.504;DP=232;ExcessHet=0;FS=6.218;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.046;SOR=1.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1138	5	0	1	0
chr1	203772073	203772073	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon4:c.C268T:p.H90Y,LAX1:NM_001282878:exon4:c.C88T:p.H30Y,LAX1:NM_017773:exon4:c.C316T:p.H106Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275016132125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.40068	T	0.242	0.24334	T	0.965	0.56013	D	0.466	0.46637	P	0.782499	0.06663	N	1.109350	0.988882	0.24360	N	1.495	0.37439	L	.	.	.	-3.31	0.65972	D	0.325	0.36569	-1.0176	0.24495	T	0.108	0.39221	T	9	0.20462683	0.36661	T	0.00275	0.05694	T	0.046	0.12618	0.268	0.21576	0.605049500696	0.60188	0.024654007578971442	0.02416	0.196763213255	0.22047	0.333337843418	0.15438	T	0.610397	0.87644	D	-0.151841	0.28022	T	-0.455885	0.27049	T	0.606053292751312	0.36642	D	0.673433	0.28201	T	0.14101975	0.32512	0.20251477	0.44284	0.14101975	0.32512	0.20251477	0.44283	-3.943	0.22948	T	.	.	0.120	0.28664	B	.;.	.;.	2.070044	0.26324	17.08	0.99165217897944913	0.54212	0.25479	0.22711	N	AEFDGBIJ	0.074237	0.14873	N	0.0128197722892784	0.42438	2.556956	-0.0485570388563663	0.37552	2.20032	0.999938819406304	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.16	3.25	0.36363	0.755000	0.26070	2.657000	0.33854	0.599000	0.40250	0.514000	0.27064	0.968000	0.29604	0.925000	0.46118	0.0:0.8181:0.0:0.1819	8.684	0.33389	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	620.83	35	chr1	203772073	.	C	T	620.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.938;DP=241;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.621;SOR=0.409	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	5	0	1	0
chr1	204257768	204257768	C	T	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon9:c.G1109A:p.R370Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.029036887526	.	.	8.642e-05	0	0	0	0	1.558e-05	0	0.0006	6.47e-05	10	154602	rs770150553	4.105e-05	4.104e-05	1.906e-05	6.326e-05	0.0005	3.245e-05	2.92e-05	0.0004	0.0004	0	4.475e-05	0	0	0	0	6.295e-06	6.624e-05	0.0005	5.915e-05	5.91e-05	3.855e-05	8.072e-05	0.0012	3.078e-05	2.21e-05	0.0005	0.0004	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0012	0.062	0.38185	T	0.026	0.55759	D	0.998	0.73220	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	2.54	0.13916	T	-2.48	0.56144	N	0.797	0.81658	-1.1395	0.01377	T	0.096	0.36238	T	10	0.1468662	0.27837	T	0.029037	0.51617	D	0.187	0.46274	0.309	0.28128	0.179529687257	0.17594	0.5513837782667352	0.55064	0.567583180435	0.53013	0.678861439228	0.64105	T	0.269796	0.64202	T	-0.230446	0.16589	T	-0.192951	0.55312	T	0.329253703355789	0.26194	T	0.987176	0.95613	D	0.2385358	0.46732	0.18993992	0.42369	0.2385358	0.46732	0.18993992	0.42368	-8.181	0.62296	D	.	.	0.316	0.54183	B	.;.;.	.;.;.	4.512343	0.70673	25.6	0.9995413735189016	0.99963	0.94163	0.60304	D	AEFDGBHCI	0.851047	0.76789	D	0.718317839712217	0.80834	7.38278	0.692551520631956	0.81814	7.615215	0.999999999999999	0.74766	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.67	5.67	0.87673	6.829000	0.75105	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:1.0:0.0:0.0	19.726	0.96160	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1277.83	68	chr1	204257768	.	C	T	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=248;ExcessHet=0;FS=2.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=0.295;SOR=1.144	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	204444146	204444146	C	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789C:p.C930S,PIK3C2B:NM_002646:exon20:c.G2789C:p.C930S,PIK3C2B:NM_001377335:exon21:c.G2705C:p.C902S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0237418535776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.081	0.42794	T	0.997	0.70673	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	0.995401	0.42676	D	0.325	0.10370	N	0.09	0.61443	T	-3.79	0.71639	D	0.832	0.82761	-0.8769	0.50005	T	0.203	0.56087	T	10	0.61663824	0.67743	D	0.023742	0.46713	T	0.313	0.63482	0.353	0.35246	0.690363084289	0.68770	0.2959275635875451	0.29505	1.13746954477	0.78817	0.827165842056	0.86128	D	0.582301	0.86341	D	0.259438	0.79477	D	0.134888	0.79212	D	0.790150687056041	0.45699	D	0.820118	0.51656	T	0.39687213	0.60515	0.4581177	0.68513	0.39687213	0.60516	0.4581177	0.68514	-5.9	0.45435	T	.	.	0.412	0.72319	A	.;.	.;.	4.568797	0.72067	25.8	0.97379865545043809	0.33666	0.90571	0.51857	D	ALL	0.672735	0.63903	D	0.166364408756116	0.49590	3.15765	0.322092539868483	0.56840	3.848078	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	804.23	124	chr1	204444146	.	C	G	804.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1158:.	5	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	804.23	124	chr1	204444146	.	C	T	804.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1158:.	3	0	3	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	299.06	124	chr1	204444147	.	A	G	299.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.023;DP=497;ExcessHet=0.4139;FS=229.318;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.95;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1158:.	4	0	2	0
chr1	204460551	204460551	G	A	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon6:c.C1421T:p.T474M,PIK3C2B:NM_001377335:exon8:c.C1421T:p.T474M,PIK3C2B:NM_002646:exon8:c.C1421T:p.T474M	.	.	.	.	.	.	.	.	0.9925	0.826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	.	0.0002	0.00299521	0.0014	0	0	0	0	4.497e-05	0.0033	0.0096	0.0012096	187	154602	rs142843233	0.0006	0.0006	0.0003	0.0008	0.0085	0.0005	0.0005	0.0080	0.0078	5.982e-05	6.708e-05	0	2.519e-05	0	0.0002	6.123e-05	0.0006	0.0085	0.0003	0.0003	0.0001	0.0006	0.0098	0.0003	0.0002	0.0075	0.0068	7.225e-05	0	0	0	0	0	0	0	0	0.0098	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.003573	0.34767	N	0.219340	0.999989	0.54805	D	2.365	0.68172	M	-0.07	0.63911	T	-4.93	0.81755	D	0.898	0.89800	-0.1844	0.78069	T	0.423	0.76776	T	10	0.01604557	0.00337	T	.	.	.	0.391	0.70684	.	.	0.661679532079	0.65884	0.5854354427262264	0.58472	1.04273536759	0.75854	0.611482024193	0.54525	T	0.422863	0.77380	T	-0.110703	0.34653	T	0.0753134	0.75265	D	0.136017756405682	0.15928	T	0.908909	0.67748	D	0.39798927	0.60593	0.41342792	0.65516	0.39798927	0.60593	0.41342792	0.65516	-3.884	0.22062	T	.	.	0.111	0.21653	B	.;.	.;.	5.734905	0.93300	33	0.99916544118023132	0.98449	0.96724	0.70600	D	AEFBCI	0.887121	0.81909	D	0.741507524134476	0.82350	7.741082	0.748346856488072	0.86032	8.761762	0.999999999999145	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.81	5.81	0.92413	8.374000	0.90026	8.668000	0.77998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.618000	0.31844	0.0:0.0:1.0:0.0	16.991	0.86226	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1235.83	113	chr1	204460551	.	G	A	1235.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.34;DP=288;ExcessHet=0;FS=7.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.285;SOR=1.442	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1113	5	0	1	0
chr1	205083905	205083905	T	C	exonic	TMEM81	.	nonsynonymous SNV	TMEM81:NM_203376:exon1:c.A416G:p.Q139R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00539521926482	.	.	7.423e-05	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs779975278	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.079e-05	1.656e-05	4.637e-05	6.57e-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	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.321485	0.14263	N	0.652848	1	0.08975	N	-1.31	0.00704	N	1.0	0.41392	T	1.59	0.00660	N	0.026	0.00527	-0.9814	0.34678	T	0.027	0.11397	T	10	0.018339664	0.00398	T	0.005395	0.13832	T	0.025	0.05312	.	.	0.0920862733494	0.08535	0.39444788521391083	0.39359	0.073276802317	0.08217	0.226664185524	0.01730	T	8.36E-4	0.00412	T	-0.510015	0.00502	T	-0.784474	0.02321	T	0.0232352760271827	0.01051	T	0.184182	0.01901	T	0.03307637	0.03456	0.03764666	0.03462	0.03307637	0.03455	0.03764666	0.03462	-3.054	0.10775	T	.	.	0.053	0.00280	B	.	.	-0.570358	0.01654	0.117	0.39182233125699495	0.02688	0.01215	0.04316	N	AEFBCI	0.022989	0.01221	N	-1.56111895605708	0.01471	0.06419813	-1.43006566540754	0.02955	0.1369708	0.00253450207181775	0.09511	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	0.765	0.17616	-0.342000	0.07848	-0.872000	0.07099	-0.909000	0.02273	0.001000	0.13787	0.000000	0.08366	0.080000	0.17246	0.118:0.551:0.0:0.331	5.812	0.17734	365	0.84644	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1366.83	33	chr1	205083905	.	T	C	1366.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=446;ExcessHet=0;FS=0.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.856;SOR=0.78	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	5	0	1	0
chr1	205920184	205920184	T	C	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon18:c.A2102G:p.N701S,SLC26A9:NM_134325:exon18:c.A2102G:p.N701S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0255215360015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.32929	T	0.021	0.58089	D	0.159	0.28304	B	0.092	0.30031	B	0.000006	0.62929	D	0.059155	0.968805	0.38685	D	1.665	0.42610	L	0.13	0.60973	T	-0.2	0.10136	N	0.729	0.73015	-0.7994	0.55179	T	0.193	0.54579	T	10	0.72675157	0.74025	D	0.025522	0.48485	D	0.132	0.35948	0.712	0.84781	0.498259528926	0.49460	0.3675581501898213	0.36669	0.424080628735	0.42844	0.548709869385	0.45676	T	0.145142	0.48211	T	-0.118912	0.33301	T	-0.408586	0.32387	T	0.871735513210297	0.52162	D	0.911209	0.68535	D	0.27715293	0.50774	0.18832958	0.42117	0.27715293	0.50774	0.18832958	0.42116	-4.049	0.24534	T	.	.	0.153	0.37671	B	.;.;.	.;.;.	4.544332	0.71454	25.7	0.99450785744793024	0.65274	0.90562	0.51841	D	ALL	0.675736	0.64102	D	0.24380032098247	0.53332	3.502637	0.352033827520654	0.58631	4.034693	0.999999982846247	0.74766	0.57788	0.32782	0	0.563428	0.19063	0	0.573078	0.19857	0	0.421255	0.06892	1	.	.	5.44	5.44	0.79348	5.739000	0.68261	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.744	0.62347	852	0.35056	.;STAS domain|STAS 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	.	.	.	.	.	.	.	.	0.08333	1316.83	35	chr1	205920184	.	T	C	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=312;ExcessHet=0;FS=4.252;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.29;SOR=0.898	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	5	0	1	0
chr1	206392831	206392831	C	T	exonic	SRGAP2	.	nonsynonymous SNV	SRGAP2:NM_001170637:exon6:c.C629T:p.T210M,SRGAP2:NM_001300952:exon6:c.C629T:p.T210M,SRGAP2:NM_001377444:exon6:c.C629T:p.T210M,SRGAP2:NM_001377445:exon6:c.C629T:p.T210M,SRGAP2:NM_001377446:exon6:c.C629T:p.T210M,SRGAP2:NM_001377447:exon6:c.C629T:p.T210M,SRGAP2:NM_015326:exon6:c.C629T:p.T210M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	.	0.0005	0.0005	0.0003	0.0013	0.0002	0.0004	0	0.0009	0.0001921	5	26028	rs371626449	8.232e-05	8.588e-05	9.515e-05	7.137e-05	0.0003	6.34e-05	5.68e-05	8.329e-05	7.3e-05	0	2.854e-05	0	0	2.027e-05	0.0003	0.0001	0.0002	4.752e-05	4.943e-05	5.954e-05	6.845e-05	2.916e-05	9.26e-05	2.251e-05	1.618e-05	4.019e-05	2.678e-05	0	0	7.108e-05	0	0	0	0	9.26e-05	0	0	.	.	.	0.122	0.35710	T	0.003	0.11197	B	0.004	0.10090	B	0.018567	0.27453	N	0.403597	.	.	.	.	.	.	1.96	0.22270	T	.	.	.	0.281	0.34874	-0.9224	0.45224	T	0.094	0.35658	T	8	0.03816256	0.02217	T	.	.	.	.	.	.	.	0.352262096564	0.34836	0.26672969301912935	0.26585	.	.	0.476037234068	0.35512	T	0.007652	0.30964	T	0.107812	0.65123	D	-0.0829114	0.64691	T	0.111351639032364	0.13563	T	0.978002	0.92190	D	0.09106372	0.21327	0.14197339	0.33792	0.09106372	0.21327	0.14197339	0.33791	-4.67	0.33039	T	.	.	0.075	0.07937	B	.;.;.;.	.;.;.;.	3.883397	0.56458	23.7	0.9795686270754167	0.37143	0.20785	0.21168	N	AEFGBI	0.197335	0.32426	N	-0.167478828071905	0.34494	1.969521	-0.0951169626374262	0.35591	2.060974	0.999999980098811	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	3.111000	0.50053	7.663000	0.64347	0.594000	0.32500	0.067000	0.21986	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.085	0.93183	.	.	F-BAR domain;F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	442.83	30	chr1	206392831	.	C	T	442.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=158;ExcessHet=0;FS=9.232;MLEAC=1;MLEAF=0.083;MQ=31;MQRankSum=-0.811;QD=14.76;ReadPosRankSum=1.01;SOR=0.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:45:.:.:0,45,675:.	5	0	1	0
chr1	206453238	206453238	G	A	exonic	SRGAP2	.	nonsynonymous SNV	SRGAP2:NM_001170637:exon20:c.G2215A:p.V739M,SRGAP2:NM_001300952:exon20:c.G2215A:p.V739M,SRGAP2:NM_001377444:exon20:c.G2218A:p.V740M,SRGAP2:NM_001377445:exon20:c.G2218A:p.V740M,SRGAP2:NM_001377446:exon20:c.G2215A:p.V739M,SRGAP2:NM_001377447:exon20:c.G2218A:p.V740M,SRGAP2:NM_015326:exon20:c.G2218A:p.V740M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	rs368723990	5.772e-05	9.065e-05	4.527e-05	6.811e-05	0.0003	4.1e-05	3.442e-05	0.0002	0.0001	0.0003	7.359e-05	0	0.0003	0	0	3.687e-05	3.838e-05	3.875e-05	7.882e-05	7.875e-05	8.995e-05	6.718e-05	0.0002	4.495e-05	3.511e-05	0.0001	9.916e-05	0.0002	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	0.082	0.43913	T	0.05	0.22331	B	0.094	0.30180	B	0.008540	0.30795	N	0.312834	.	.	.	.	.	.	0.78	0.49358	T	.	.	.	0.137	0.13484	-0.9912	0.32295	T	0.075	0.30148	T	8	0.17096573	0.31789	T	.	.	.	.	.	.	.	0.395745362164	0.39188	0.1591089622911344	0.15831	.	.	0.697747349739	0.66819	T	0.030764	0.39759	T	-0.0903681	0.38015	T	-0.367584	0.37172	T	0.695082545280457	0.40485	D	0.875412	0.64303	D	0.09872398	0.23291	0.11318143	0.27313	0.09872398	0.23290	0.11318143	0.27312	-8.0	0.61071	D	.	.	0.095	0.17995	B	.;.;.;.;.	.;.;.;.;.	3.584361	0.50547	23.0	0.99805941318407054	0.88995	0.74127	0.36259	D	AEFGBI	0.118969	0.23241	N	-0.118495355670755	0.36587	2.116867	-0.0276477651258237	0.38472	2.267031	0.935049347170444	0.27197	0.706548	0.73137	0	0.708844	0.79440	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.62	2.37	0.28337	0.233000	0.17689	3.006000	0.35941	0.676000	0.76740	0.973000	0.34540	0.999000	0.35428	0.998000	0.85391	0.3415:0.1587:0.4998:0.0	4.904	0.13144	.	.	SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain;SH3 domain|SH3 domain|SH3 domain|srGAP1/2/3, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1187.83	93	chr1	206453238	.	G	A	1187.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=264;ExcessHet=0;FS=0.776;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.328;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1100:.	5	0	1	0
chr1	206611330	206611330	C	T	exonic	EIF2D	.	nonsynonymous SNV	EIF2D:NM_001201478:exon2:c.G101A:p.G34E,EIF2D:NM_006893:exon2:c.G101A:p.G34E	.	427	1091	4	0	0	4	0.00182983	.	.	.	2363876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0126445680172	.	0.000399361	8.252e-05	0	0.0002	0	0	0.0001	0	6.079e-05	8.41e-05	13	154602	rs543512703	8.482e-05	8.482e-05	7.623e-05	9.351e-05	0.0009	7.209e-05	6.796e-05	0.0003	0.0002	5.974e-05	8.944e-05	0.0002	0	0	0.0009	8.543e-05	0.0001	5.797e-05	0.0001	0.0001	0.0001	9.401e-05	0.0002	7.086e-05	5.744e-05	0.0001	7.895e-05	0	0	0.0001	0	0	0	0.0068	0.0002	0.0005	0	0.03	0.49613	D	1.0	0.21144	T	0.504	0.37219	P	0.231	0.38266	B	0.131988	0.18603	N	0.579646	1	0.08975	N	0.735	0.18861	N	1.19	0.37578	T	-1.3	0.46337	N	0.209	0.28498	-1.0708	0.09238	T	0.062	0.25887	T	10	0.071079016	0.10429	T	0.012645	0.31390	T	0.063	0.18251	0.347	0.34274	0.370789594751	0.36692	0.49960185185159683	0.49881	1.13154514655	0.78636	0.490553021431	0.37515	T	0.029515	0.21131	T	-0.278621	0.10813	T	-0.422661	0.30771	T	0.0698329385354927	0.08628	T	0.89681	0.63970	D	0.5350627	0.69118	0.28055102	0.54031	0.5350627	0.69119	0.28055102	0.54030	-8.881	0.66927	D	.	.	0.114	0.36396	B	.;.;.	.;.;.	3.414825	0.47383	22.4	0.83186706611100192	0.14588	0.43774	0.27172	N	AEFDBCI	0.176067	0.30326	N	-0.294366050166924	0.29365	1.627802	-0.208644079901199	0.31225	1.765107	0.999998754602402	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.99	5.08	0.68373	3.294000	0.51494	5.913000	0.51050	0.599000	0.40250	0.573000	0.27530	1.000000	0.68203	0.998000	0.85391	0.0:0.7225:0.2775:0.0	14.578	0.67855	644	0.63734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1386.83	38	chr1	206611330	.	C	T	1386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.15;DP=270;ExcessHet=0;FS=3.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.745;SOR=1.115	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1397,0,784	5	0	1	0
chr1	206685381	206685381	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_004759:exon1:c.G152T:p.G51V,MAPKAPK2:NM_032960:exon1:c.G152T:p.G51V	.	256	1256	10	0	0	10	0.00396511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009865	0.000000	0.000000	0.006993	0.000000	0.000000	0.006135	0.026515	0.08333	2261.83	161	chr1	206685381	.	G	T	2261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.416;DP=331;ExcessHet=0;FS=7.048;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-2.275;SOR=0.36	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	5	0	1	0
chr1	206732596	206732596	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_032960:exon10:c.G1081T:p.A361S	.	408	1088	23	3	0	29	0.0131519	.	.	.	2816010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.235	0.0107832580715	0.0009	0.000798722	0.0021	0	0.0022	0	0	0.0027	0.0077	0.0025	0.0019534	302	154602	rs55894011	0.0014	0.0014	0.0013	0.0016	0.0252	0.0014	0.0014	0.0219	0.0206	0.0006	0.0031	0.0092	0	1.872e-05	0.0252	0.0010	0.0030	0.0028	0.0016	0.0016	0.0016	0.0017	0.0039	0.0015	0.0014	0.0031	0.0028	0.0002	0.0055	0.0039	0.0081	0	0	0.0238	0.0018	0.0038	0.0025	0.073	0.34800	T	0.03	0.54159	D	0.102	0.25827	B	0.183	0.35961	B	.	.	.	.	1	0.81001	D	2.535	0.73915	M	0.83	0.47815	T	-2.69	0.57435	D	0.664	0.67304	-0.9016	0.47824	T	0.169	0.50890	T	9	0.011110544	0.00244	T	0.010783	0.27705	T	0.235	0.53788	.	.	0.691149095016	0.68849	0.4102939804632537	0.40945	1.30424677293	0.83088	0.840001881123	0.88095	D	0.240113	0.60838	T	-0.315836	0.07244	T	-0.231069	0.51669	T	0.0808803812905361	0.10100	T	0.955704	0.83186	D	0.37245694	0.58766	0.2993112	0.55965	0.37245694	0.58766	0.2993112	0.55964	-7.688	0.58924	D	.	.	0.452	0.62326	A	.	.	4.793734	0.77818	26.8	0.99511064463149201	0.68618	0.99585	0.97709	D	AEFDBI	0.934855	0.92885	D	0.311857058301308	0.56756	3.840936	0.456127409313182	0.65112	4.782671	0.999999999999759	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	10.003000	0.99689	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.857	0.88678	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	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	0.027694	0.005051	0.046196	0.035088	0.050000	0.034483	0.006098	0.015152	0.08333	1534.83	46	chr1	206732596	.	G	T	1534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.004;DP=297;ExcessHet=0;FS=3.538;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.068;SOR=1.033	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr1	206866568	206866568	T	C	exonic	IL20	.	nonsynonymous SNV	IL20:NM_001385165:exon4:c.T310C:p.Y104H,IL20:NM_018724:exon4:c.T310C:p.Y104H,IL20:NM_001385166:exon5:c.T310C:p.Y104H,IL20:NM_001385167:exon6:c.T310C:p.Y104H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00379393	0.0017	0	0	0	0	2.997e-05	0	0.0124	0.0014812	229	154602	rs201490344	0.0006	0.0006	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	0	2.236e-05	0	0	0	0.0002	2.338e-05	0.0006	0.0100	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	4.812e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0135	1.0	0.00964	T	0.699	0.05939	T	0.0	0.02946	B	0.001	0.04355	B	0.246494	0.15600	N	0.656007	1	0.08975	N	-1.5	0.00507	N	0.02	0.62318	T	1.74	0.00570	N	0.14	0.20660	-0.9928	0.31880	T	0.040	0.17106	T	10	0.0030531287	0.00050	T	.	.	.	0.053	0.14996	.	.	0.301455362545	0.29754	0.1936942681071132	0.19287	0.124854956626	0.14065	0.30922806263	0.11790	T	0.059743	0.31197	T	-0.659272	0.00063	T	-0.71038	0.05276	T	0.0227599073531445	0.00996	T	0.373463	0.08871	T	0.097940125	0.23094	0.03135029	0.01710	0.097940125	0.23094	0.03135029	0.01710	-2.661	0.06981	T	.	.	0.050	0.00203	B	.;.;.	.;.;.	0.505943	0.08752	5.524	0.088730331886267236	0.00078	0.00292	0.01564	N	AEBI	0.023229	0.01266	N	-1.4378325824448	0.02314	0.1020381	-1.30872556397519	0.04316	0.2033346	0.999592916998894	0.40745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.06	0.468	0.15943	0.292000	0.18766	0.995000	0.23219	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.1637:0.4927:0.1593:0.1844	1.801	0.02885	683	0.59664	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1236.83	110	chr1	206866568	.	T	C	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=312;ExcessHet=0;FS=2.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.302;SOR=0.998	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	5	0	1	0
chr1	206911922	206911922	G	A	exonic	FCMR	.	nonsynonymous SNV	FCMR:NM_001142473:exon3:c.C182T:p.P61L,FCMR:NM_001193338:exon4:c.C518T:p.P173L,FCMR:NM_005449:exon4:c.C518T:p.P173L	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0241055582181	0.0006	0.000399361	0.0006	9.664e-05	0.0010	0	0.0002	0.0007	0	0.0007	0.0006145	95	154602	rs144958422	0.0007	0.0007	0.0006	0.0007	0.0073	0.0006	0.0006	0.0056	0.0050	0.0001	0.0010	0.0011	0	3.748e-05	0.0073	0.0006	0.0010	0.0008	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0006	0.0012	0	0	0.0034	0.0007	0.0014	0.0008	0.02	0.91255	D	0.056	0.46632	T	1.0	0.90584	D	0.991	0.79672	D	0.003389	0.35013	N	0.132210	1	0.08975	N	1.625	0.41611	L	0.49	0.55775	T	-3.27	0.94223	D	0.192	0.28498	-0.8616	0.51147	T	0.270	0.64151	T	10	0.017623752	0.00377	T	0.024106	0.47094	T	0.050	0.13987	.	.	0.363751660372	0.35992	0.3299808392580684	0.32911	0.234433461644	0.25982	0.279175370932	0.07378	T	0.320306	0.69151	T	-0.441828	0.01261	T	-0.478919	0.24560	T	0.026259128374593	0.01441	T	0.59504	0.22051	T	0.06414482	0.13578	0.078261994	0.17513	0.06414482	0.13578	0.078261994	0.17513	-3.69	0.20178	T	.	.	0.073	0.14797	B	.;.;.	.;.;.	2.137016	0.27209	17.38	0.99474811926237883	0.66525	0.10631	0.16083	N	AEFBCI	0.107686	0.21446	N	-0.461723158308825	0.23343	1.25294	-0.59061235307761	0.19737	1.060297	0.999820969204193	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.33	2.34	0.28071	0.343000	0.19686	1.636000	0.27766	-0.123000	0.13640	0.001000	0.13787	0.367000	0.24549	0.034000	0.13613	0.1179:0.2314:0.6507:0.0	5.200	0.14582	770	0.49152	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	626.83	33	chr1	206911922	.	G	A	626.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=255;ExcessHet=0;FS=4.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.217;SOR=0.897	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1170	5	0	1	0
chr1	206959690	206959690	C	T	exonic	FCAMR	.	nonsynonymous SNV	FCAMR:NM_032029:exon6:c.G760A:p.E254K,FCAMR:NM_001122979:exon7:c.G760A:p.E254K,FCAMR:NM_001170631:exon7:c.G1562A:p.R521K	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00872402999529	0.0003	0.000599042	0.0007	0.0002	0.0018	0	0	0.0008	0.0022	0.0001	0.0005821	90	154602	rs201047919	0.0005	0.0005	0.0005	0.0005	0.0043	0.0005	0.0005	0.0030	0.0026	0.0003	0.0018	0.0005	0	3.745e-05	0.0043	0.0005	0.0009	8.116e-05	0.0005	0.0005	0.0006	0.0005	0.0015	0.0004	0.0004	0.0010	0.0009	7.221e-05	0	0.0015	0.0003	0	0	0.0034	0.0006	0.0043	0.0002	0.024	0.47745	D	0.41	0.14544	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-0.95	0.25332	N	0.283	0.32037	-0.9573	0.39681	T	0.015	0.05994	T	8	0.0065068603	0.00147	T	0.008724	0.23025	T	0.021	0.04004	.	.	0.223847106136	0.22009	0.1643202246948084	0.16352	0.315285447066	0.33810	0.300758123398	0.10514	T	0.023093	0.17691	T	-0.592949	0.00161	T	-0.654586	0.08636	T	0.0115433922356172	0.00174	T	0.273273	0.04638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27968	B	.	.	0.815910	0.11871	8.436	0.93153083599657505	0.22802	0.07158	0.13183	N	AEFBI	0.068740	0.13573	N	-0.747240598634769	0.14708	0.7349722	-0.808734365506464	0.14284	0.7455601	0.943583330058021	0.27576	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	1.8	0.24069	0.186000	0.16787	0.039000	0.13841	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1866:0.6171:0.0:0.1963	4.045	0.09251	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.010870	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	677.83	37	chr1	206959690	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.453;DP=260;ExcessHet=0;FS=0.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.233;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1164	5	0	1	0
chr1	207022397	207022397	G	A	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_001083924:exon3:c.C629T:p.T210I,C1orf116:NM_023938:exon4:c.C1367T:p.T456I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0109262251469	.	.	8.315e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777316156	1.368e-06	2.052e-06	2.722e-06	0	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.044	0.49663	D	.	.	.	.	.	.	0.391066	0.13254	N	0.737239	1	0.08975	N	.	.	.	2.89	0.10196	T	-2.48	0.59545	N	0.058	0.04668	-1.0881	0.05856	T	0.059	0.24686	T	10	0.12933347	0.24608	T	0.010926	0.28020	T	0.118	0.32913	0.224	0.14813	0.218112801441	0.21410	0.4021477112554493	0.40130	0.0892704095681	0.10086	.	.	.	.	.	.	-0.284704	0.10176	T	-0.646734	0.09184	T	0.309453204647344	0.25392	T	0.473853	0.14122	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.21315	B	.;.	.;.	1.223963	0.16181	12.37	0.99637336976608415	0.76449	0.20029	0.20888	N	AEFDGBHCI	0.119706	0.23352	N	-0.0528910054971275	0.39473	2.328352	-0.22317078364266	0.30708	1.73131	0.999999840021339	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.28	4.36	0.51643	1.004000	0.29423	2.774000	0.34690	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.038000	0.14061	0.0:0.3426:0.6573:0.0	12.697	0.56378	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1338.83	34	chr1	207022397	.	G	A	1338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.171;DP=306;ExcessHet=0;FS=1.911;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.655;SOR=0.981	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	5	0	1	0
chr1	207049126	207049126	T	C	exonic	YOD1	.	nonsynonymous SNV	YOD1:NM_018566:exon2:c.A941G:p.N314S,YOD1:NM_001276320:exon4:c.A809G:p.N270S	.	429	1077	15	1	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0018643667224	0.0004	0.00139776	0.0015	0.0002	0.0010	0	0.0002	0.0013	0.0033	0.0046	0.0014036	217	154602	rs139358134	0.0011	0.0011	0.0010	0.0013	0.0177	0.0011	0.0011	0.0149	0.0139	0.0007	0.0014	0.0017	2.519e-05	0.0005	0.0177	0.0007	0.0021	0.0050	0.0008	0.0008	0.0008	0.0008	0.0060	0.0007	0.0006	0.0043	0.0037	7.228e-05	0	0.0017	0.0009	0.0002	0.0005	0.0170	0.0007	0.0028	0.0060	0.411	0.15201	T	0.542	0.10354	T	0.307	0.32716	B	0.038	0.23361	B	0.000000	0.84330	D	0.084376	0.999995	0.58761	D	0.42	0.12520	N	.	.	.	-0.86	0.25551	N	0.309	0.41853	-1.0213	0.23292	T	0.084	0.32872	T	9	0.008237213	0.00187	T	0.001864	0.03245	T	0.056	0.15993	.	.	0.412688821616	0.40882	0.492423865390011	0.49163	0.345618355853	0.36468	0.64618241787	0.59443	T	0.022014	0.17048	T	-0.539139	0.00339	T	-0.546808	0.17633	T	0.0471615899580296	0.04994	T	0.948005	0.81304	D	0.17115128	0.37732	0.12882589	0.30987	0.17115128	0.37732	0.12882589	0.30986	-7.794	0.59658	D	.	.	0.080	0.07985	B	.;.	.;.	2.821128	0.37167	20.4	0.97042401011670798	0.32117	0.90429	0.51598	D	AEFBCI	0.383758	0.46514	N	-0.102840344568864	0.37268	2.165864	0.147929576135634	0.47032	2.93967	0.999999898758274	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	6.17	6.17	0.99707	4.854000	0.62617	6.145000	0.54110	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.000000	0.023098	0.032164	0.000000	0.008621	0.003049	0.007576	0.08333	987.83	41	chr1	207049126	.	T	C	987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=279;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.58;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	5	0	1	0
chr1	207337404	207337404	C	T	exonic	CD55	.	nonsynonymous SNV	CD55:NM_000574:exon8:c.C1055T:p.T352I,CD55:NM_001114752:exon8:c.C1055T:p.T352I,CD55:NM_001300902:exon8:c.C1055T:p.T352I,CD55:NM_001300903:exon8:c.C1055T:p.T352I,CD55:NM_001300904:exon8:c.C1055T:p.T352I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00458084933235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.68238	D	0.085	0.49663	T	0.054	0.25173	B	0.011	0.20508	B	0.000693	0.00666	N	5.144430	1	0.08975	N	1.5	0.37844	L	1.18	0.37746	T	-1.1	0.38345	N	0.12	0.19861	-1.0661	0.10293	T	0.053	0.22578	T	10	0.049723476	0.04603	T	0.004581	0.11315	T	0.013	0.01715	0.266	0.21261	0.0762999501168	0.06990	0.04527790815122127	0.04471	0.143199068346	0.16158	0.240885525942	0.02870	T	0.212857	0.57402	T	-0.250017	0.14096	T	-0.596909	0.13072	T	0.224075078964233	0.21665	T	0.688631	0.32905	T	0.02921444	0.02380	0.035161115	0.02715	0.02921444	0.02380	0.035161115	0.02715	-5.627	0.43039	T	.	.	0.112	0.35992	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.308781	0.02580	0.316	0.92934746253661049	0.22501	0.11850	0.16901	N	ALL	0.114807	0.22599	N	-1.63479609484717	0.01100	0.04778038	-1.65641778959889	0.01343	0.0606221	0.999999999932285	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.743671	0.96076	0	0.741806	0.99463	0	.	.	3.21	-1.02	0.09618	-0.573000	0.05966	-0.746000	0.07598	-1.785000	0.00646	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.1724:0.5484:0.1667:0.1126	3.246	0.06396	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1422.83	38	chr1	207337404	.	C	T	1422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.889;DP=288;ExcessHet=0;FS=2.042;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.666;SOR=1.022	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1433,0,1114	5	0	1	0
chr1	207645313	207645313	T	G	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon1:c.T80G:p.L27R	.	414	1104	3	1	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0085	0.0081869	0.0035	0.0237	0.0035	0	0	0.0020	0.0077	6.057e-05	0.0033441	517	154602	rs115047031	0.0018	0.0018	0.0019	0.0018	0.0299	0.0018	0.0017	0.0283	0.0277	0.0299	0.0039	0.0209	0	1.873e-05	0.0102	0.0005	0.0049	0.0001	0.0086	0.0086	0.0087	0.0084	0.0243	0.0082	0.0080	0.0230	0.0225	0.0243	0.0252	0.0061	0.0274	0	0	0.0238	0.0009	0.0071	0	0.093	0.31532	T	0.021	0.58089	D	0.993	0.65571	D	0.584	0.50293	P	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.25	0.36512	T	-1.67	0.39887	N	0.3	0.33904	-1.0558	0.12829	T	0.034	0.14813	T	9	0.0035641193	0.00064	T	.	.	.	0.100	0.28662	.	.	0.0482279557977	0.04254	0.6884055849476864	0.68780	0.204543318638	0.22876	0.263088852167	0.05263	T	0.085301	0.37471	T	-0.606373	0.00133	T	-0.625535	0.10756	T	0.021128718894161	0.00815	T	0.262274	0.04237	T	0.117767535	0.27757	0.16496797	0.38187	0.117767535	0.27757	0.16496797	0.38187	-5.64	0.43156	T	.	.	0.120	0.24633	B	.	.	0.748657	0.11183	7.820	0.74461427635665267	0.10704	0.08259	0.14211	N	ALL	0.052795	0.09455	N	-1.38252017525667	0.02802	0.1242468	-1.62560903815324	0.01507	0.06822721	0.999999999983932	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.578056	0.29568	0	0.618803	0.45993	0	.	.	2.95	-2.42	0.06164	-1.163000	0.03248	-11.718000	0.00581	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.319:0.1067:0.1633:0.4111	0.756	0.00935	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.025253	0.048913	0.023392	0.000000	0.008621	0.000000	0.003788	0.08333	1006.83	33	chr1	207645313	.	T	G	1006.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=268;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.451;SOR=0.588	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1017,0,1209	5	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.1667	3142.06	54	chr1	208217558	.	G	T	3142.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.19;DP=454;ExcessHet=0.4139;FS=0.466;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.316;SOR=0.749	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	4	0	2	0
chr1	210623556	210623556	C	T	exonic	HHAT	.	stopgain	HHAT:NM_001170564:exon9:c.C865T:p.R289X,HHAT:NM_001170587:exon10:c.C1279T:p.R427X,HHAT:NM_001170588:exon10:c.C1081T:p.R361X,HHAT:NM_001122834:exon11:c.C1276T:p.R426X,HHAT:NM_001170580:exon11:c.C1276T:p.R426X,HHAT:NM_018194:exon11:c.C1276T:p.R426X	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.577e-06	9.577e-06	8.168e-06	1.1e-05	2.319e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.892e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000029	0.55875	D	0.070853	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.846	0.86833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	7.632052	0.96710	36	0.9954390283487633	0.70711	0.95672	0.65668	D	AEFBI	0.070531	0.14005	N	0.292551448220101	0.55772	3.741154	0.073394036066982	0.43216	2.627969	0.968170256174918	0.29033	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.87	4.96	0.65153	3.159000	0.50430	3.283000	0.37246	-0.218000	0.08083	0.992000	0.37556	0.998000	0.33993	0.003000	0.05239	0.1541:0.8458:0.0:0.0	13.742	0.62335	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1201.83	33	chr1	210623556	.	C	T	1201.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.156;DP=289;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.728;SOR=1.059	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	5	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	173.87	91	chr1	212100360	.	A	G	173.87	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.325;DP=527;ExcessHet=3.1439;FS=175.263;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	2	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	363.17	83	chr1	212100361	.	C	G	363.17	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-3.042;DP=504;ExcessHet=3.1439;FS=183.176;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=1.97;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	0	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	355.89	85	chr1	212100362	.	C	G	355.89	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.123;DP=516;ExcessHet=3.1439;FS=183.176;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.19;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	2	0	4	0
chr1	212972891	212972891	A	T	exonic	VASH2	.	nonsynonymous SNV	VASH2:NM_024749:exon4:c.A677T:p.N226I,VASH2:NM_001136475:exon5:c.A497T:p.N166I,VASH2:NM_001301056:exon6:c.A809T:p.N270I,VASH2:NM_001136474:exon7:c.A614T:p.N205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0131600743902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.024	0.83351	D	0.997	0.90584	D	0.931	0.92359	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	2.395	0.69210	M	.	.	.	-4.45	0.77717	D	0.851	0.90590	-0.4608	0.70041	T	0.322	0.69073	T	9	0.80277735	0.79656	D	0.01316	0.32344	T	0.377	0.69527	0.402	0.43245	0.363336886782	0.35939	0.6653178259733994	0.66468	1.17859640205	0.79955	0.747769594193	0.74116	T	0.520558	0.83226	D	0.258314	0.79373	D	0.133274	0.79106	D	0.995575785636902	0.87675	D	0.880812	0.59928	D	0.7194129	0.79129	0.40914172	0.65212	0.7194129	0.79130	0.40914172	0.65212	-11.881	0.87355	D	.	.	0.421	0.62494	A	.;.;.;.;.	.;.;.;.;.	4.742491	0.76494	26.5	0.99363182611930501	0.61113	0.95366	0.64440	D	AEFBHCI	0.927571	0.91043	D	0.656015659381165	0.76759	6.546055	0.626009285785164	0.76836	6.564706	0.99999977117973	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.37	4.24	0.49486	9.129000	0.93724	9.319000	0.80028	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9291:0.0:0.0709:0.0	11.392	0.49058	792	0.45996	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1039.83	34	chr1	212972891	.	A	T	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.6;DP=259;ExcessHet=0;FS=0.843;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.01;SOR=0.885	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1110	5	0	1	0
chr1	213129835	213129835	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.G745A:p.A249T,RPS6KC1:NM_001287221:exon5:c.G238A:p.A80T,RPS6KC1:NM_001349646:exon6:c.G781A:p.A261T,RPS6KC1:NM_012424:exon6:c.G781A:p.A261T,RPS6KC1:NM_001287218:exon7:c.G238A:p.A80T,RPS6KC1:NM_001287219:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349648:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349649:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349653:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349650:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349652:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349654:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349651:exon9:c.G238A:p.A80T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1066738	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0222216880896	0.0015	0.00119808	0.0012	0.0002	0.0007	0	0.0002	0.0014	0.0033	0.0021	0.001119	173	154602	rs147945661	0.0015	0.0015	0.0014	0.0016	0.0164	0.0015	0.0014	0.0137	0.0127	0.0012	0.0013	0.0008	0	0.0002	0.0164	0.0015	0.0020	0.0023	0.0011	0.0011	0.0011	0.0012	0.0025	0.0010	0.0010	0.0014	0.0013	0.0003	0	0.0018	0.0009	0	0.0006	0	0.0016	0.0005	0.0025	0.109	0.29288	T	0.105	0.38016	T	0.58	0.38813	P	0.098	0.34210	B	0.000004	0.62929	D	0.061479	0.985479	0.81001	D	2.195	0.61839	M	-0.61	0.71779	T	-2.1	0.51157	N	0.248	0.36464	-0.7871	0.55898	T	0.189	0.54064	T	10	0.012542695	0.00269	T	0.022222	0.45086	T	0.102	0.29158	.	.	0.748983866323	0.74672	0.12353733367379002	0.12279	0.149293114294	0.16836	0.398760795593	0.24896	T	0.081853	0.36694	T	-0.367592	0.03718	T	-0.306345	0.44051	T	0.0202358216047287	0.00723	T	0.877312	0.59062	D	0.13537733	0.31420	0.2021305	0.44226	0.13148084	0.30645	0.23356181	0.48547	-7.872	0.60194	D	.	.	0.093	0.22717	B	.;.;.;.;.	.;.;.;.;.	3.192312	0.43374	21.7	0.99751178859942069	0.84305	0.89310	0.49697	D	AEFBI	0.223166	0.34756	N	0.113338170110566	0.47084	2.939161	0.266390792853388	0.53586	3.526939	0.998890240643501	0.37915	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	2.626000	0.46126	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0832:0.0:0.7599:0.1568	8.278	0.31043	814	0.42100	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018127	0.010101	0.019022	0.043860	0.000000	0.025862	0.009146	0.007576	0.08333	993.83	33	chr1	213129835	.	G	A	993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.23;DP=244;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.053;SOR=0.992	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	5	0	1	0
chr1	213997170	213997170	A	G	exonic	PROX1	.	nonsynonymous SNV	PROX1:NM_001270616:exon2:c.A635G:p.K212R,PROX1:NM_002763:exon2:c.A635G:p.K212R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00556567882117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361003644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.02739	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000006	0.62929	D	0.106328	0.985155	0.40244	D	-0.625	0.02162	N	1.98	0.21865	T	0.44	0.04694	N	0.259	0.29774	-1.0168	0.24755	T	0.017	0.07045	T	10	0.07039079	0.10234	T	0.005566	0.14349	T	0.078	0.22779	0.325	0.30711	0.370276754211	0.36643	0.026934105297130313	0.02643	0.529839768189	0.50541	0.703624904156	0.67668	T	0.10681	0.41847	T	-0.24474	0.14750	T	-0.589328	0.13724	T	0.677699148654938	0.39684	D	0.649135	0.54490	T	0.06470547	0.13756	0.11642356	0.28106	0.06470547	0.13755	0.11642356	0.28105	-3.123	0.11563	T	.	.	0.086	0.13032	B	.;.;.;.;.	.;.;.;.;.	2.701110	0.35283	19.86	0.89545492775903046	0.18889	0.76697	0.37637	D	AEFDBIJ	0.224804	0.34898	N	-0.519363847715215	0.21454	1.138707	-0.249045169021462	0.29804	1.672819	0.999982043923448	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	6.07	3.77	0.42499	5.238000	0.65190	8.110000	0.76588	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8643:0.0:0.1357:0.0	10.140	0.41902	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	674.83	33	chr1	213997170	.	A	G	674.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=222;ExcessHet=0;FS=4.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.301;SOR=1.315	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,106,1448	5	0	1	0
chr1	214629136	214629136	C	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon8:c.C1159G:p.Q387E	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1209088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0922487292926	.	.	0.0004	0	0.0005	0	0	0.0006	0.0044	0	0.0003169	49	154602	rs202217426	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	0	0.0005	0.0002	0	0	0.0012	0.0003	0.0004	1.182e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0.0003	0	0	0	0	0.0004	0	0	0.132	0.26519	T	0.293	0.20811	T	0.899	0.49514	P	0.445	0.45921	B	0.005303	0.32910	N	0.000000	0.991241	0.41342	D	.	.	.	-0.98	0.75789	T	-1.62	0.38924	N	0.436	0.47487	-0.5655	0.66193	T	0.316	0.68540	T	9	0.1676682	0.31274	T	0.092249	0.75857	D	0.211	0.50185	.	.	0.770671146095	0.76857	0.06654154212946409	0.06592	0.352143244232	0.37051	0.417834877968	0.27539	T	0.020472	0.16112	T	-0.256756	0.13283	T	-0.26165	0.48660	T	0.231554344296455	0.22025	T	0.691431	0.30091	T	0.20290327	0.42350	0.18453617	0.41512	0.20290327	0.42350	0.18453617	0.41511	-3.028	0.10486	T	.	.	0.113	0.22171	B	.	.	3.401345	0.47136	22.4	0.99287404925641465	0.58149	0.93842	0.59349	D	AEFBI	0.445440	0.50191	N	0.401635726708322	0.61512	4.353361	0.473233865423708	0.66220	4.924035	0.999996099076368	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	3.642000	0.54101	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8622:0.1378:0.0	15.607	0.76429	885	0.28214	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	627.83	34	chr1	214629136	.	C	G	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=203;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.565;SOR=0.576	GT:AD:DP:GQ:PL	0/1:14,23:37:99:638,0,362	5	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V	Stromme syndrome, Autosomal recessive	439	1053	29	1	0	31	0.0145063	.	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	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	0.018127	0.000000	0.025815	0.020468	0.000000	0.025862	0.012195	0.018939	0.08333	878.83	42	chr1	214641961	.	C	T	878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.405;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.057;SOR=0.66	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	5	0	1	0
chr1	219958851	219958851	A	-	exonic	SLC30A10	.	frameshift deletion	SLC30A10:NM_001376929:exon1:c.168delT:p.F56Lfs*3	Hypermanganesemia with dystonia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	46.63	.	chr1	219958850	.	CA	C	46.63	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=8;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	0	1	3
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.47	78	chr1	220074013	.	G	A	56.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.315;DP=306;ExcessHet=0;FS=257.957;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=0.683;SOR=7.824	GT:AD:DP:GQ:PL	0/0:27,0:27:4:0,4,687	5	0	1	0
chr1	220880258	220880258	-	GCAGCAACAGCCGCC	exonic	HLX	.	nonframeshift insertion	HLX:NM_021958:exon1:c.401_402insGCAGCAACAGCCGCC:p.P139_P140insQQQPP	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0005	0.0045	0.0364	0.0007	0.0014	0.0083	0.0472	0.00011	17	154602	rs752844857	0.0045	0.0045	0.0032	0.0058	0.0472	0.0044	0.0044	0.0460	0.0455	0.0006	0.0052	0.0038	0.0300	0.0011	0.0068	0.0005	0.0055	0.0472	0.0036	0.0036	0.0027	0.0045	0.0487	0.0033	0.0032	0.0436	0.0416	0.0004	0	0.0029	0.0035	0.0302	0.0008	0.0034	0.0010	0.0038	0.0487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1204.79	34	chr1	220880258	.	A	AGCAGCAACAGCCGCC	1204.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=266;ExcessHet=0;FS=2.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.012;SOR=0.997	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1022	5	0	1	0
chr1	220881305	220881305	C	T	exonic	HLX	.	nonsynonymous SNV	HLX:NM_021958:exon2:c.C704T:p.A235V	.	418	1091	12	1	0	14	0.00637523	.	.	.	707106	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.310	.	.	0.0133786	0.0067	0.0002	0.0041	0.0010	0	0.0001	0.0055	0.0451	0.0058473	904	154602	rs140376930	0.0030	0.0030	0.0018	0.0042	0.0444	0.0029	0.0029	0.0433	0.0428	0.0004	0.0049	0	0.0003	0	0.0038	3.688e-05	0.0038	0.0444	0.0018	0.0019	0.0012	0.0026	0.0439	0.0017	0.0016	0.0390	0.0372	0.0003	0	0.0027	0	0.0010	0	0	0.0001	0.0009	0.0439	0.012	0.54683	D	0.225	0.25514	T	0.179	0.28995	B	0.052	0.25551	B	0.011027	0.29689	N	0.226724	0.995187	0.81001	D	0.345	0.11182	N	-2.67	0.90332	D	-1.36	0.33798	N	0.296	0.33469	-0.2178	0.77209	T	0.512	0.81681	D	10	0.004606515	0.00096	T	.	.	.	0.310	0.63162	.	.	0.675180841049	0.67242	0.579454902795363	0.57874	0.571372605285	0.53262	0.606326580048	0.53798	T	0.209853	0.57018	T	-0.297712	0.08876	T	-0.167562	0.57666	T	0.0255895648151636	0.01351	T	0.79652	0.44001	T	0.194075	0.41142	0.25753677	0.51472	0.194075	0.41142	0.25753677	0.51471	-5.279	0.39734	T	.	.	0.130	0.27791	B	.	.	4.439918	0.68930	25.3	0.99893942322566454	0.96742	0.98543	0.83909	D	ALL	0.863356	0.78188	D	-0.0089209747296953	0.41451	2.47957	0.20907126839686	0.50351	3.228009	0.99999999999546	0.74766	0.764865	0.99124	0	0.609123	0.50646	0	0.731555	0.93304	0	0.603991	0.37454	0	.	.	5.82	4.86	0.62624	5.828000	0.68999	6.066000	0.53214	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8708:0.1292:0.0	18.227	0.89857	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.022727	0.08333	1635.83	34	chr1	220881305	.	C	T	1635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.174;DP=280;ExcessHet=0;FS=8.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.321;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1393:.	5	0	1	0
chr1	222538766	222538766	G	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon5:c.C1459A:p.L487M	.	422	1089	11	0	0	11	0.00502513	.	.	.	718673	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	.	0.0044	0.00239617	0.0040	0.0010	0.0014	0	0.0109	0.0053	0.0110	0.0012	0.0041203	637	154602	rs116359984	0.0053	0.0053	0.0053	0.0053	0.0060	0.0052	0.0051	0.0059	0.0058	0.0010	0.0021	0.0004	0	0.0102	0.0036	0.0060	0.0038	0.0014	0.0046	0.0046	0.0044	0.0048	0.0060	0.0043	0.0042	0.0055	0.0053	0.0010	0.0022	0.0059	0.0012	0	0.0123	0.0034	0.0060	0.0085	0.0010	0.044	0.41096	D	0.086	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000570	0.43250	D	0.153343	0.992857	0.41762	D	2.335	0.66956	M	2.56	0.13673	T	-1.55	0.37566	N	0.433	0.47208	-1.1730	0.00484	T	0.048	0.20434	T	10	0.014419138	0.00303	T	.	.	.	0.230	0.53062	.	.	0.197625483188	0.19356	0.4017266481056992	0.40088	0.68760950996	0.60391	0.620371103287	0.55782	T	0.00331	0.02718	T	-0.452145	0.01097	T	-0.419223	0.31164	T	0.02550971537922	0.01340	T	0.921108	0.71398	D	0.39438424	0.60342	0.2511849	0.50724	0.39438424	0.60342	0.2511849	0.50723	-9.805	0.72736	D	.	.	0.152	0.33619	B	.	.	4.089281	0.60890	24.3	0.99645716448364385	0.76943	0.98642	0.85044	D	AEFBI	0.826831	0.74624	D	0.569552629591111	0.71279	5.627006	0.543441570618771	0.70943	5.580067	0.120778704780486	0.16876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.43	0.52967	6.394000	0.73153	4.951000	0.46281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.1591:0.0:0.8409:0.0	9.525	0.38325	904	0.23766	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Likely benign	0	0	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	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.003788	0.1667	1678.06	35	chr1	222538766	.	G	T	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.72;DP=274;ExcessHet=0.4139;FS=1.408;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.905;SOR=0.547	GT:AD:DP:GQ:PL	0/1:27,30:57:99:775,0,690	4	0	2	0
chr1	223544808	223544808	C	T	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon18:c.G1876A:p.D626N	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.000998403	0.0046	0.0009	0	0	0.0091	0.0048	0	0.0057	0.0014424	223	154602	rs148756356	0.0059	0.0057	0.0061	0.0057	0.0066	0.0058	0.0058	0.0065	0.0064	0.0009	0.0013	0.0019	0	0.0043	0.0049	0.0066	0.0068	0.0049	0.0031	0.0031	0.0031	0.0031	0.0051	0.0029	0.0028	0.0047	0.0045	0.0013	0	0.0009	0.0003	0.0006	0.0025	0	0.0051	0.0028	0.0044	0.936	0.02217	T	0.661	0.34477	T	0.047	0.21998	B	0.007	0.12992	B	0.030060	0.25365	N	0.412070	0.999944	0.19238	N	0.99	0.25021	L	-0.71	0.72889	T	0.46	0.03140	N	0.31	0.34981	-0.4800	0.69366	T	0.566	0.84239	D	10	0.010028452	0.00225	T	.	.	.	0.087	0.25287	.	.	0.389283895039	0.38539	0.1349808292052133	0.13422	0.001694774052	0.00138	0.34367698431	0.16987	T	0.022709	0.17460	T	-0.552739	0.00281	T	-0.564275	0.15978	T	0.0112632014639345	0.00166	T	0.89781	0.64256	D	0.046484243	0.07787	0.06528926	0.13212	0.046484243	0.07787	0.06528926	0.13212	-2.782	0.08018	T	.	.	0.093	0.13876	B	.;.	.;.	0.877120	0.12500	9.033	0.11339341869995301	0.00168	0.03751	0.09056	N	AEFBI	0.047885	0.08113	N	-0.75702693409183	0.14442	0.7194862	-0.736585495298704	0.16052	0.8473742	1.81554724382571E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	1.85	0.24418	0.568000	0.23326	-1.157000	0.06164	0.599000	0.40250	0.191000	0.24200	0.000000	0.08366	0.041000	0.14368	0.0:0.675:0.1441:0.1808	7.594	0.27203	895	0.25842	EF-Hand 1, calcium-binding site|EF-hand domain;EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002415	0.000000	0.008475	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	969.83	35	chr1	223544808	.	C	T	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.203;DP=247;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.835;SOR=0.556	GT:AD:DP:GQ:PL	0/1:29,41:70:99:980,0,606	5	0	1	0
chr1	226548972	226548972	G	A	exonic	STUM	.	nonsynonymous SNV	STUM:NM_001003665:exon1:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.27366352865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000914116	1.987e-05	2.189e-05	1.89e-05	2.087e-05	0.0002	1.361e-05	1.166e-05	0.0001	9.808e-05	0	0	0	0	0	0	9.404e-06	3.563e-05	0.0002	1.974e-05	1.969e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.321e-05	3.04e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.039	0.42487	D	0.274	0.22084	T	0.665	0.41045	P	0.043	0.24256	B	0.046115	0.23471	U	0.381114	0.974743	0.25474	N	0.895	0.22405	L	.	.	.	0.33	0.05810	N	0.058	0.02964	-1.0543	0.13225	T	0.043	0.18368	T	9	0.12233883	0.23206	T	0.273664	0.89974	D	0.056	0.15993	0.214	0.13354	0.162503812791	0.15892	0.4443522825613562	0.44353	1.65484946215	0.89605	.	.	.	0.008346	0.07671	T	-0.115631	0.33841	T	-0.403872	0.32935	T	0.447811633348465	0.30717	T	0.710029	0.35555	T	0.13233054	0.30817	0.14967778	0.35332	0.13233054	0.30817	0.14967778	0.35331	-4.095	0.25216	T	.	.	0.116	0.23290	B	.;.	.;.	3.399881	0.47116	22.4	0.99740258230815948	0.83409	0.79484	0.39395	D	AEFDBI	0.206420	0.33268	N	-0.256954041739786	0.30826	1.722584	-0.223519670856919	0.30694	1.730505	0.999984257415544	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.507000	0.35365	9.042000	0.78618	0.308000	0.19071	0.998000	0.41325	1.000000	0.68203	0.657000	0.32885	0.0:0.0:1.0:0.0	9.806	0.39963	612	0.66786	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	568.83	38	chr1	226548972	.	G	A	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.851;DP=229;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.149;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,938	5	0	1	0
chr1	226637747	226637747	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon7:c.G2557A:p.A853T	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0173868172144	0.0023	0.000399361	0.0015	0.0003	0.0003	0	0.0003	0.0024	0.0024	0.0007	0.0014424	223	154602	rs41314270	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0014	0.0013	0.0003	0.0008	0.0177	0	9.364e-05	0.0019	0.0014	0.0021	0.0007	0.0015	0.0015	0.0015	0.0014	0.0018	0.0013	0.0013	0.0015	0.0014	0.0004	0	0.0016	0.0182	0	0	0	0.0018	0.0009	0.0004	0.048	0.40068	D	0.414	0.14369	T	0.92	0.51019	P	0.387	0.44046	B	0.092522	0.20269	N	0.568424	0.993832	0.23639	N	1.32	0.33002	L	2.29	0.17113	T	-0.45	0.14782	N	0.167	0.17691	-1.0585	0.12134	T	0.030	0.13111	T	10	0.00937894	0.00212	T	0.017387	0.39069	T	0.084	0.24469	.	.	0.339940258815	0.33601	0.6528390791551625	0.65219	1.74234144677	0.90877	0.347114682198	0.17496	T	0.078694	0.35953	T	-0.628511	0.00098	T	-0.700217	0.05814	T	0.016390014010757	0.00407	T	0.190681	0.02037	T	0.048058286	0.08317	0.07443292	0.16281	0.048058286	0.08317	0.07443292	0.16281	-8.011	0.61145	D	.	.	0.125	0.26294	B	.;.	.;.	2.894751	0.38345	20.7	0.99657502510439033	0.77694	0.35454	0.25305	N	ALL	0.082773	0.16763	N	-0.160956999421996	0.34770	1.988708	-0.198855621219282	0.31580	1.78848	0.999999999920005	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659943	0.59835	0	0.714379	0.83352	0	.	.	5.52	3.49	0.39065	0.763000	0.26183	2.719000	0.34297	0.599000	0.40250	0.008000	0.17931	0.992000	0.31684	0.505000	0.29129	0.3214:0.4768:0.0:0.2018	4.004	0.09081	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	685.83	34	chr1	226637747	.	C	T	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.538;DP=233;ExcessHet=0;FS=5.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.651;SOR=0.666	GT:AD:DP:GQ:PL	0/1:25,29:54:99:696,0,551	5	0	1	0
chr1	227921580	227921580	A	G	exonic	WNT9A	.	nonsynonymous SNV	WNT9A:NM_003395:exon4:c.T1036C:p.C346R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.638620067864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.055	0.97073	H	-1.73	0.83327	D	-10.81	0.99207	D	0.812	0.80767	0.890	0.95540	D	0.813	0.93708	D	10	0.98689985	0.99025	D	0.63862	0.96914	D	0.963	0.99463	0.884	0.97032	0.880152313689	0.87897	0.9668292686151266	0.96670	1.62735328857	0.89165	0.876611351967	0.93500	D	0.963497	0.99546	D	0.458027	0.92839	D	0.420148	0.92750	D	0.999973177909851	0.99958	D	0.930507	0.74278	D	0.9832024	0.99344	0.9747079	0.99653	0.9832024	0.99344	0.9747079	0.99653	-16.948	0.98867	D	.	.	0.999	0.98504	P	.	.	5.460092	0.91156	32	0.99738519408662973	0.83337	0.98607	0.84635	D	AEFBI	0.929173	0.91451	D	0.95498496373202	0.94181	12.56191	0.83447767563837	0.92079	11.22391	0.999999977796671	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.64	4.64	0.57399	9.219000	0.94313	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.378	0.60196	675	0.60470	.	.	.	.	.	.	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	717.83	35	chr1	227921580	.	A	G	717.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.649;DP=227;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.79;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1211	5	0	1	0
chr1	228211818	228211818	T	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon2:c.T35A:p.F12Y,OBSCN:NM_001271223:exon2:c.T35A:p.F12Y,OBSCN:NM_052843:exon2:c.T35A:p.F12Y	.	1	1505	16	0	0	16	0.00528751	.	.	.	513507	OBSCN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.669	0.0707848724061	0.0041	0.00179712	0.0049	0.0007	0.0019	0	0.0008	0.0075	0.0042	0.0017	0.0034088	527	154602	rs191837710	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0056	0.0055	0.0009	0.0025	0.0016	0	0.0016	0.0031	0.0057	0.0050	0.0010	0.0032	0.0032	0.0036	0.0028	0.0053	0.0030	0.0029	0.0049	0.0047	0.0012	0	0.0029	0.0012	0	0.0008	0.0102	0.0053	0.0052	0.0008	0.093	0.37750	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.997631	0.81001	D	3.065	0.87014	M	-0.71	0.72889	T	-1.75	0.44094	N	0.5	0.53269	0.295	0.87482	D	0.526	0.82341	D	10	0.015575349	0.00327	T	0.070785	0.71095	D	0.669	0.87722	.	.	0.69651886316	0.69390	0.6445437384992927	0.64389	2.2713391689	0.96273	0.861625611782	0.91350	D	0.076308	0.35387	T	-0.2814	0.10520	T	-0.174931	0.56991	T	0.0506998647465366	0.05623	T	0.891311	0.62583	D	0.74401104	0.80523	0.69784164	0.82204	0.8643993	0.88424	0.73808795	0.84521	-11.031	0.79828	D	.	.	0.869	0.80820	P	.;.;.;.;.	.;.;.;.;.	4.077041	0.60617	24.2	0.95827732297069612	0.27928	0.99581	0.97668	D	AEFDBI	0.937412	0.93515	D	0.688474183786011	0.78878	6.960894	0.553368141275699	0.71630	5.684482	0.999999999977286	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.76	4.76	0.60189	6.150000	0.71577	7.794000	0.68965	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.0:0.0:1.0	14.260	0.65626	506	0.75555	.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006067	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.007576	0.08333	650.83	95	chr1	228211818	.	T	A	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.249;DP=481;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.139;SOR=0.959	GT:AD:DP:GQ:PL	0/1:53,31:84:99:661,0,1379	5	0	1	0
chr1	228274199	228274199	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon19:c.G5438A:p.R1813Q,OBSCN:NM_052843:exon19:c.G5438A:p.R1813Q,OBSCN:NM_001271223:exon23:c.G6563A:p.R2188Q	.	0	1502	19	1	0	21	0.00694215	.	.	.	2388335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.064508663187	7.8e-05	0.000399361	0.0005	0	0.0005	0	0	0.0003	0	0.0022	0.0004722	73	154602	rs201775103	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	2.99e-05	0.0004	0.0007	0	0	0.0028	0.0001	0.0005	0.0023	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0.0009	0	0	0.0034	0.0002	0.0009	0.0014	0.233	0.19639	T	0.25	0.28669	T	0.985	0.61118	D	0.405	0.44649	B	0.953482	0.08271	N	0.975502	1	0.08975	N	0.95	0.23787	L	-0.09	0.64086	T	-0.98	0.25986	N	0.157	0.16308	-0.9704	0.37115	T	0.125	0.42883	T	10	0.006353706	0.00143	T	0.064509	0.69300	D	0.078	0.22779	.	.	0.544128928594	0.54067	0.5569867715167525	0.55625	0.149307884708	0.16836	0.308165788651	0.11630	T	0.036894	0.24276	T	-0.533139	0.00368	T	-0.544141	0.17893	T	0.00772480962572594	0.00090	T	0.741226	0.36032	T	0.03028966	0.02666	0.039209414	0.03962	0.028013578	0.02075	0.045015827	0.05964	-6.069	0.46853	T	.	.	0.075	0.05447	B	.;.;.;.;.	.;.;.;.;.	1.465564	0.18885	13.98	0.97054960078936692	0.32167	0.02036	0.06099	N	AEFDBI	0.049309	0.08506	N	-0.811334921902654	0.13020	0.6385616	-0.894668923838448	0.12220	0.6273003	0.990011348564989	0.32009	0.653496	0.48692	0	0.59043	0.45803	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.25	-1.12	0.09306	0.161000	0.16298	-0.541000	0.08582	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.7089:0.0:0.2911:0.0	10.591	0.44501	442	0.79946	.;Immunoglobulin I-set;.;.;Immunoglobulin I-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	552.83	34	chr1	228274199	.	G	A	552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.44;DP=234;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.275;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	5	0	1	0
chr1	228372616	228372616	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.G21838A:p.V7280M,OBSCN:NM_001271223:exon105:c.G24709A:p.V8237M	.	.	.	.	.	.	.	.	.	.	.	2816190	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.223	0.150374910596	0.0011	.	0.0024	0.0003	0	0	0	0.0049	0	0	0.0008085	125	154602	rs201098610	0.0010	0.0010	0.0010	0.0010	0.0006	0.0010	0.0010	0.0006	0.0006	0.0002	0.0001	0.0259	0	0	0.0005	0.0006	0.0018	2.451e-05	0.0008	0.0008	0.0008	0.0007	0.0004	0.0007	0.0006	0.0003	0.0002	0.0001	0	6.541e-05	0.0242	0	0	0.0032	0.0004	0.0010	0	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	0.944895	0.27492	N	2.005	0.54552	M	-0.8	0.73845	T	-1.68	0.40082	N	0.259	0.29313	-0.0605	0.80982	T	0.447	0.78294	T	9	0.0067518055	0.00153	T	0.150375	0.83206	D	0.245	0.55201	.	.	0.717077514744	0.71459	0.13334576674131576	0.13258	0.430256033579	0.43280	0.726939201355	0.71059	T	0.040821	0.25655	T	-0.314523	0.07355	T	-0.2651	0.48313	T	0.0485368919579446	0.05239	T	0.888311	0.61778	D	0.21319266	0.43691	0.3029213	0.56323	0.20494328	0.42621	0.29029453	0.55051	-5.77	0.44312	T	.	.	0.527	0.65771	A	.;.;.;.	.;.;.;.	2.492388	0.32161	18.96	0.96378647059859324	0.29610	0.95749	0.65991	D	AEFDBCI	0.727936	0.67612	D	0.466239914903242	0.65131	4.783976	0.44231509970818	0.64224	4.672842	0.999999999989652	0.74766	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.553173	0.17726	1	.	.	5.31	5.31	0.75063	2.813000	0.47701	6.600000	0.56053	0.618000	0.50648	0.947000	0.32937	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.153	0.86662	428	0.80967	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	4400.06	47	chr1	228372616	.	G	A	4400.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.739;DP=533;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.481;SOR=0.674	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1835,0,2381	4	0	2	0
chr1	229487612	229487612	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon10:c.C1196T:p.S399F	.	454	1066	2	0	0	2	0.000937207	0.9767	0.78	.	1566502	NUP133-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.140	.	0.0032	0.00359425	0.0032	0.0007	0.0036	0	0.0042	0.0041	0.0011	0.0026	0.00326	504	154602	rs148628311	0.0038	0.0039	0.0038	0.0038	0.0042	0.0037	0.0037	0.0040	0.0039	0.0005	0.0042	0.0064	0	0.0036	0.0007	0.0041	0.0035	0.0028	0.0032	0.0032	0.0032	0.0031	0.0043	0.0029	0.0028	0.0039	0.0038	0.0008	0.0461	0.0027	0.0058	0	0.0025	0	0.0043	0.0038	0.0029	0.006	0.61437	D	0.011	0.64786	D	0.939	0.52645	P	0.694	0.53938	P	0.001103	0.40219	N	0.322537	0.999976	0.53665	D	2.545	0.74286	M	1.79	0.25509	T	-2.99	0.62151	D	0.584	0.60495	-1.0642	0.10736	T	0.077	0.30676	T	10	0.01160112	0.00253	T	.	.	.	0.140	0.37593	.	.	0.492611691308	0.48895	0.4988645506664313	0.49807	0.339956898807	0.35944	0.485323280096	0.36791	T	0.611824	0.87709	D	-0.404522	0.02162	T	-0.35234	0.38936	T	0.0178107234183086	0.00510	T	0.910909	0.68443	D	0.45119572	0.64116	0.28766996	0.54779	0.45119572	0.64117	0.28766996	0.54779	-7.327	0.56387	T	.	.	0.221	0.45174	B	.	.	5.002757	0.83020	27.9	0.99824543278967448	0.90677	0.97985	0.78645	D	AEFBI	0.482232	0.52319	N	0.540656970622372	0.69516	5.367897	0.533782089713276	0.70276	5.481666	0.083497817527412	0.15930	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	4.09	0.47038	3.249000	0.51138	7.196000	0.57786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1547:0.8453:0.0	13.649	0.61770	884	0.28482	.	.	.	.	.	.	Likely benign	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	1	0	0.002520	0.015306	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1252.06	33	chr1	229487612	.	G	A	1252.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=208;ExcessHet=0.4139;FS=0.854;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.027;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,18:40:99:.:.:448,0,502:.	4	0	2	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.08333	796.83	33	chr1	229651283	.	G	A	796.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.634;DP=255;ExcessHet=0;FS=6.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.088;SOR=0.284	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	5	0	1	0
chr1	230357055	230357055	C	T	exonic	PGBD5	.	nonsynonymous SNV	PGBD5:NM_001258311:exon2:c.G598A:p.A200T	.	429	1057	36	0	0	36	0.0167442	.	.	.	696566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.358	.	0.0045	0.00698882	0.0068	0.0008	0.0033	0	0.0065	0.0058	0.0088	0.0205	0.0063259	978	154602	rs41315609	0.0063	0.0063	0.0058	0.0069	0.0208	0.0062	0.0062	0.0200	0.0196	0.0009	0.0029	0.0030	2.519e-05	0.0076	0.0132	0.0058	0.0057	0.0208	0.0052	0.0052	0.0048	0.0056	0.0203	0.0049	0.0048	0.0171	0.0159	0.0011	0.0088	0.0041	0.0017	0.0006	0.0072	0.0136	0.0070	0.0033	0.0203	0.019	0.50132	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	2.25	0.17761	T	-1.97	0.45587	N	0.819	0.81459	-1.1567	0.00839	T	0.060	0.25237	T	10	0.008564383	0.00194	T	.	.	.	0.358	0.67872	.	.	0.198526703765	0.19489	0.6185808216366527	0.61791	1.03234423226	0.75462	0.636188805103	0.58023	T	.	.	.	-0.140888	0.29750	T	0.0292734	0.72232	D	0.0248253129137804	0.01249	T	0.925008	0.72455	D	0.43868607	0.63317	0.5046682	0.71369	0.43868607	0.63318	0.5046682	0.71369	-7.423	0.57066	T	.	.	0.175	0.52102	B	.;.	.;.	4.125597	0.61694	24.4	0.99934615814858752	0.99535	0.98341	0.81803	D	AEFBI	0.851227	0.76807	D	0.541228674228767	0.69549	5.372841	0.552156647955467	0.71547	5.671552	0.999999999999823	0.74766	0.833774	0.99917	0	0.59043	0.45803	0	0.0	0.00061	3	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.034000	0.70575	7.554000	0.60334	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:1.0:0.0:0.0	20.557	0.99307	835	0.38313	PiggyBac transposable element-derived protein;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.000000	0.005435	0.011696	0.000000	0.000000	0.033537	0.018939	0.08333	1336.83	34	chr1	230357055	.	C	T	1336.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.874;DP=271;ExcessHet=0;FS=4.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.85;SOR=0.379	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1233	5	0	1	0
chr1	230795221	230795221	G	T	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon16:c.G1740T:p.E580D,CAPN9:NM_016452:exon17:c.G1851T:p.E617D,CAPN9:NM_006615:exon18:c.G1929T:p.E643D	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0017	0.00279553	0.0034	0.0018	0.0029	0	0	0.0026	0.0079	0.0105	0.0031371	485	154602	rs145939347	0.0025	0.0025	0.0022	0.0028	0.0105	0.0024	0.0024	0.0100	0.0097	0.0013	0.0025	0.0045	2.52e-05	9.369e-05	0.0100	0.0020	0.0030	0.0105	0.0021	0.0021	0.0021	0.0021	0.0087	0.0019	0.0019	0.0066	0.0059	0.0014	0	0.0024	0.0052	0	0	0.0306	0.0022	0.0038	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.782937	0.06665	N	1.088310	1	0.08975	N	-0.605	0.02211	N	-3.33	0.93928	D	-0.06	0.07882	N	0.182	0.19861	-0.5192	0.67944	T	0.342	0.70762	T	10	0.003541261	0.00064	T	.	.	.	0.242	0.54781	0.296	0.26041	0.417081434665	0.41324	0.2824455418245183	0.28157	0.07475473512	0.08389	0.260764181614	0.04982	T	0.010769	0.09688	T	-0.429997	0.01482	T	-0.381043	0.35601	T	0.000777849805756991	0.00007	T	0.732627	0.34815	T	0.042772688	0.06547	0.045840155	0.06257	0.042772688	0.06546	0.045840155	0.06256	-2.435	0.06595	T	.	.	0.068	0.05188	B	.;.;.	.;.;.	0.589088	0.09576	6.350	0.8131300260242581	0.13623	0.04405	0.09992	N	AEFDBI	0.101079	0.20310	N	-1.26662693315687	0.04084	0.1836721	-1.19679423355702	0.05963	0.2856409	0.278984645269827	0.18968	0.486886	0.10167	0	0.59043	0.45803	0	0.586423	0.30347	0	0.613276	0.41899	0	.	.	5.44	-3.06	0.05053	0.083000	0.14718	-2.213000	0.04049	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1924:0.4374:0.3703:0.0	8.685	0.33396	841	0.37094	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012133	0.030928	0.017663	0.000000	0.000000	0.008621	0.003067	0.007634	0.08333	1411.83	33	chr1	230795221	.	G	T	1411.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.67;DP=275;ExcessHet=0;FS=10.536;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.306;SOR=0.206	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1422,0,1287	5	0	1	0
chr1	230997240	230997240	A	G	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_022786:exon5:c.A793G:p.I265V,ARV1:NM_001346992:exon6:c.A892G:p.I298V	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00656653543555	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs368530211	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0002	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	2.236e-05	0	0	0	0.0002	2.158e-05	3.312e-05	0	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.292	0.14894	T	0.767	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	0.715507	0.06283	N	1.167520	1	0.08975	N	0.805	0.20218	L	2.67	0.12473	T	-0.07	0.08033	N	0.131	0.12627	-0.9627	0.38664	T	0.015	0.06138	T	9	0.05089426	0.04889	T	0.006567	0.17329	T	0.032	0.07718	.	.	0.167679373172	0.16340	0.14958560340803356	0.14880	0.136564958709	0.15401	0.318382501602	0.13175	T	0.08414	0.39900	T	-0.33159	0.05992	T	-0.650436	0.08924	T	0.0222954741157106	0.00942	T	0.608739	0.23025	T	0.013184699	0.00052	0.025145413	0.00549	0.013184699	0.00052	0.025145413	0.00549	-3.751	0.20074	T	.	.	0.064	0.02012	B	.;.	.;.	0.520217	0.08890	5.670	0.47840382115003743	0.03944	0.04544	0.10180	N	AEFBI	0.080805	0.16343	N	-1.2428298816188	0.04394	0.1982463	-1.32778453913946	0.04074	0.1914437	0.627942697173268	0.21943	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	-6.75	0.01575	-0.311000	0.08164	1.413000	0.26297	0.754000	0.88378	0.117000	0.23121	0.659000	0.26006	0.599000	0.31363	0.1819:0.1229:0.3336:0.3616	1.545	0.02409	791	0.46100	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1255.83	33	chr1	230997240	.	A	G	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=2.17;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	5	0	1	0
chr1	231206722	231206722	G	A	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon7:c.G1751A:p.R584Q,TRIM67:NM_001300889:exon9:c.G1565A:p.R522Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0384793762465	8e-05	0.00179712	0.0006	0.0001	0.0002	0	0	0.0002	0	0.0038	0.0005757	89	154602	rs201556896	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0029	2.994e-05	6.764e-05	0.0005	0	0	0.0024	0.0001	0.0004	0.0034	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0001	0.0024	0.0020	4.812e-05	0	0.0001	0.0014	0	0	0	0.0001	0	0.0037	0.002	0.72154	D	0.0	0.92824	D	0.966	0.56202	D	0.861	0.61279	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	1.27	0.36146	T	-3.59	0.70432	D	0.954	0.96302	-0.3588	0.73298	T	0.292	0.66326	T	10	0.03025198	0.01152	T	0.038479	0.58245	D	0.513	0.79156	.	.	0.612009523599	0.60888	0.7362209301380824	0.73567	0.953520437991	0.72732	0.848494052887	0.89387	D	0.083552	0.51462	T	-0.0530675	0.43980	T	0.14889	0.80113	D	0.178991988301277	0.19171	T	0.997	0.98929	D	0.62041056	0.73785	0.5503263	0.74000	0.62041056	0.73787	0.5503263	0.74000	-8.895	0.68152	D	.	.	0.678	0.80177	P	.;.;.	.;.;.	5.593330	0.92398	32	0.99941543359283624	0.99797	0.98821	0.87296	D	AEFDBI	0.927610	0.91053	D	0.861364038067857	0.89744	10.09984	0.772812015517491	0.87848	9.366179	0.999999999999965	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	9.846000	0.98365	11.617000	0.93589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	19.761	0.96315	884	0.28482	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.008772	0.050000	0.000000	0.000000	0.000000	0.08333	1576.83	119	chr1	231206722	.	G	A	1576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=291;ExcessHet=0;FS=0.679;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.08;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	5	0	1	0
chr1	231229158	231229158	G	C	exonic	C1orf131	.	nonsynonymous SNV	C1orf131:NM_001300830:exon3:c.C499G:p.L167V,C1orf131:NM_152379:exon3:c.C502G:p.L168V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0494176760853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.53072	D	0.997	0.70673	D	0.921	0.65636	D	0.003229	0.35241	N	0.238221	0.872332	0.28186	N	2.71	0.79292	M	0.15	0.61089	T	-2.16	0.48850	N	0.301	0.40963	-0.6676	0.61937	T	0.318	0.68744	T	10	0.31371623	0.48819	T	0.049418	0.63802	D	0.211	0.50185	0.379	0.39482	0.717392553567	0.71491	0.2905371813386068	0.28966	0.330472847952	0.35125	.	.	.	0.110701	0.45577	T	-0.0119084	0.49997	T	-0.254882	0.49333	T	0.893218743147554	0.54441	D	0.835916	0.51943	T	0.08260974	0.19039	0.09484434	0.22467	0.08260974	0.19039	0.09484434	0.22466	-8.818	0.66518	D	.	.	0.34	0.55909	B	.;.;.	.;.;.	3.259968	0.44579	22.0	0.99764885016554272	0.85417	0.82994	0.42151	D	AEFBI	0.180810	0.30813	N	0.37994486735079	0.60335	4.221423	0.258579418952757	0.53139	3.484338	0.780695076776865	0.23837	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.26	2.2	0.26966	1.344000	0.33547	2.118000	0.30702	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.5152:0.0:0.4848:0.0	5.098	0.14077	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	193.83	14	chr1	231229158	.	G	C	193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.627;DP=106;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.45;SOR=0.693	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,742	5	0	1	0
chr1	233259267	233259267	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon5:c.G595A:p.A199T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0382886066469	.	0.00119808	0.0004	0	0	0	0	0	0	0.0028	0.0003428	53	154602	rs536548136	0.0001	0.0001	6.807e-05	0.0001	0.0017	9.116e-05	8.646e-05	0.0014	0.0014	0	0	0	0	0	0.0003	0	0.0001	0.0017	5.255e-05	5.249e-05	3.856e-05	6.716e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.009	0.57480	D	0.538	0.09829	T	0.682	0.41464	P	0.197	0.36707	B	.	.	.	.	1	0.20048	N	2.14	0.59869	M	-0.04	0.63240	T	-0.33	0.12472	N	0.025	0.00485	-1.0500	0.14397	T	0.124	0.42841	T	9	0.0052247643	0.00114	T	0.038289	0.58131	D	0.078	0.22779	0.155	0.05858	0.326345978581	0.32251	0.15437194677230776	0.15358	0.146899570786	0.16579	0.214713171124	0.01027	T	0.00482	0.04238	T	-0.52448	0.00414	T	-0.532013	0.19085	T	0.0280257321238064	0.01691	T	0.475952	0.14261	T	0.059647456	0.12149	0.09822815	0.23411	0.059647456	0.12148	0.09822815	0.23410	-3.242	0.13000	T	.	.	0.073	0.04847	B	.	.	0.979898	0.13573	10.10	0.97304793277920176	0.33299	0.11613	0.16749	N	AEFDBI	0.031379	0.03347	N	-0.67960611773576	0.16604	0.84742	-0.771071043251918	0.15206	0.7985316	0.30546758233953	0.19233	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.17	2.18	0.26813	0.236000	0.17745	0.274000	0.16691	0.596000	0.33519	0.035000	0.20724	0.005000	0.19230	0.513000	0.29313	0.1678:0.6707:0.1615:0.0	9.072	0.35661	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	936.83	35	chr1	233259267	.	C	T	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.553;DP=268;ExcessHet=0;FS=1.827;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=2.06;SOR=0.463	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1271	5	0	1	0
chr1	235135681	235135681	C	T	exonic	RBM34	.	nonsynonymous SNV	RBM34:NM_001346738:exon10:c.G976A:p.G326S,RBM34:NM_015014:exon10:c.G979A:p.G327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0497858738654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759685290	3.42e-06	3.42e-06	0	6.875e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.799e-06	0	0	1.971e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0	0.0	0.91255	D	0.079	0.42436	T	0.941	0.52883	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-1.375	0.00634	N	-0.4	0.69287	T	-5.06	0.82764	D	0.539	0.56662	-0.8452	0.52297	T	0.179	0.52489	T	10	0.34870547	0.51779	T	0.049786	0.63962	D	0.265	0.57870	0.435	0.48664	0.891540137815	0.89047	0.6899129899221091	0.68931	0.380953399846	0.39459	0.525744497776	0.42435	T	0.174583	0.52386	T	0.0163631	0.53890	T	-0.214272	0.53286	T	0.987739861011505	0.78174	D	0.948405	0.80130	D	0.8506346	0.87383	0.74375767	0.84853	0.8506346	0.87384	0.74375767	0.84854	-9.57	0.71294	D	.	.	0.198	0.47944	B	.;.	.;.	3.853151	0.55833	23.7	0.99828350139390187	0.91026	0.94950	0.62896	D	AEFDBI	0.414831	0.48394	N	0.119104974508512	0.47356	2.962	0.179770635842478	0.48739	3.085889	0.999962319069359	0.48965	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	4.6	0.56512	4.143000	0.57817	1.761000	0.28554	0.599000	0.40250	0.998000	0.41325	0.926000	0.28431	0.515000	0.29359	0.0:0.9296:0.0:0.0704	14.579	0.67868	975	0.05339	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM34, RNA recognition motif 2;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM34, RNA recognition motif 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1990.83	34	chr1	235135681	.	C	T	1990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.927;DP=325;ExcessHet=0;FS=1.246;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.406;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	5	0	1	0
chr1	236038223	236038223	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon5:c.C1166T:p.T389M	.	417	1078	26	1	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.314043215454	0.0003	0.000599042	0.0009	0	8.696e-05	0.0001	0	0.0005	0.0033	0.0042	0.000718	111	154602	rs142155830	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0043	0.0038	0	0.0004	7.656e-05	2.521e-05	1.874e-05	0.0059	0.0002	0.0010	0.0042	0.0003	0.0003	0.0004	0.0003	0.0048	0.0003	0.0002	0.0033	0.0028	2.406e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999373	0.46831	D	2.125	0.59049	M	-2.3	0.87671	D	-4.43	0.77554	D	0.693	0.69825	0.660	0.92675	D	0.769	0.92139	D	10	0.036665767	0.01978	T	0.314043	0.91274	D	0.659	0.87234	.	.	0.954265860692	0.95378	0.7883054061803797	0.78782	0.740464818204	0.63234	0.451162755489	0.32103	T	0.563417	0.85424	D	-0.0926796	0.37632	T	0.0940882	0.76517	D	0.0978770405054092	0.12121	T	0.938406	0.76842	D	0.582062	0.71721	0.5065998	0.71483	0.582062	0.71722	0.5065998	0.71484	-10.476	0.79195	D	0.5665382804887262	0.63396	0.241	0.47492	B	.;.	.;.	5.039584	0.83867	28.2	0.99896537898111659	0.96971	0.98699	0.85733	D	AEFDBI	0.886460	0.81786	D	0.750540878720996	0.82940	7.888642	0.748985187248683	0.86081	8.776579	0.997538186573651	0.35727	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.279000	0.72647	9.848000	0.81969	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.180	0.93603	479	0.77495	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.08333	957.83	36	chr1	236038223	.	G	A	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=236;ExcessHet=0;FS=2.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.611;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	5	0	1	0
chr1	236555630	236555630	G	A	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon40:c.C5675T:p.T1892M	.	428	1092	2	0	0	2	0.000914913	.	.	.	2440559	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0332676220568	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201518919	2.463e-05	2.463e-05	1.497e-05	3.438e-05	0.0002	1.803e-05	1.6e-05	2.003e-05	1.582e-05	0	0	0	7.557e-05	0	0.0002	2.608e-05	1.656e-05	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.058	0.44029	T	0.065	0.44905	T	0.996	0.70673	D	0.797	0.63913	P	0.001912	0.37691	N	0.260789	1	0.08975	N	1.61	0.41143	L	0.98	0.42122	T	-0.66	0.19085	N	0.552	0.59393	-1.0281	0.21070	T	0.124	0.42673	T	10	0.6321561	0.68578	D	0.033268	0.54861	D	0.149	0.39377	.	.	0.409859612472	0.40601	0.26321655064616034	0.26234	0.342588193783	0.36191	0.398724973202	0.24891	T	0.003214	0.02616	T	-0.159094	0.26899	T	-0.402658	0.33076	T	0.357315093278885	0.27304	T	0.891311	0.62583	D	0.034757126	0.03961	0.06849881	0.14314	0.034757126	0.03961	0.06849881	0.14313	-3.679	0.19008	T	.	.	0.078	0.07793	B	.;.	.;.	3.303182	0.45351	22.1	0.99734909091172796	0.83047	0.59734	0.30997	D	AEFBI	0.088811	0.18004	N	0.00145238358182442	0.41920	2.516297	-0.0898774165156058	0.35808	2.076062	0.0142930227252492	0.12578	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	3.78	0.42629	2.070000	0.41116	4.034000	0.41364	0.618000	0.50648	0.969000	0.34210	0.999000	0.35428	0.525000	0.29590	0.2398:0.0:0.6088:0.1514	5.083	0.14004	934	0.15400	BP28, C-terminal domain|BP28, C-terminal domain;BP28, C-terminal domain|BP28, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3047.04	56	chr1	236555630	.	G	A	3047.04	.	AC=2;AF=0.167;AN=12;DP=325;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.87;SOR=1	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	5	1	0	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3786.15	63	chr1	240207634	.	G	*	3786.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=478;ExcessHet=0.1336;FS=6.604;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.497;QD=14.18;ReadPosRankSum=-2.941;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:96:99:1|1:240207634_G_C:4138,2542,2509:240207634	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3922.71	63	chr1	240207641	.	T	*	3922.71	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=487;ExcessHet=0.1336;FS=8.976;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.568;QD=14.32;ReadPosRankSum=-2.852;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:96:99:1|1:240207634_G_C:4139,2552,2577:240207634	5	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	404.03	47	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	404.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.21;DP=481;ExcessHet=0.4139;FS=7.79;MLEAC=2;MLEAF=0.167;MQ=59.54;MQRankSum=0.568;QD=4.59;ReadPosRankSum=0.618;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,9:12:61:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:143,0,61:240207647	4	0	2	0
chr1	246764265	246764265	C	T	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon10:c.C1010T:p.T337M	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0479469666113	.	0.000998403	0.0009	0.0002	0	0	0	2.999e-05	0	0.0063	0.0007438	115	154602	rs555590305	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	5.979e-05	0	0	0	0	0.0017	9.899e-06	0.0003	0.0059	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	9.696e-05	0.0034	0.0029	0	0	0	0	0	0	0	1.47e-05	0	0.0050	0.022	0.48642	D	0.017	0.60337	D	0.942	0.52977	P	0.714	0.54635	P	0.000003	0.62929	D	0.139972	0.997624	0.44045	D	2.545	0.74286	M	1.02	0.40749	T	-2.45	0.53577	N	0.496	0.52918	-0.6943	0.60707	T	0.220	0.58306	T	10	0.016170532	0.00340	T	0.047947	0.63152	D	0.220	0.51569	0.449	0.50957	0.709706758388	0.70717	0.6541728864691406	0.65353	0.565556334051	0.52891	0.489663898945	0.37391	T	0.390574	0.75072	T	-0.373786	0.03407	T	-0.306804	0.44002	T	0.127215882653181	0.15122	T	0.767423	0.39577	T	0.04823212	0.08373	0.06935805	0.14604	0.04823212	0.08373	0.06935805	0.14604	-7.142	0.55064	T	.	.	0.148	0.32756	B	.	.	3.855400	0.55878	23.7	0.99847760079353287	0.92750	0.93774	0.59152	D	AEFBI	0.619199	0.60472	D	0.516749143506719	0.68079	5.168207	0.472382858675466	0.66167	4.916874	0.933162161965618	0.27117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	2.577000	0.45707	2.749000	0.34521	0.599000	0.40250	0.985000	0.35982	0.994000	0.32194	0.008000	0.08271	0.0:0.929:0.0:0.071	14.366	0.66366	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1778.06	33	chr1	246764265	.	C	T	1778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.49;DP=262;ExcessHet=0.4139;FS=1.477;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.63;SOR=0.841	GT:AD:DP:GQ:PL	0/1:23,45:68:99:1230,0,479	4	0	2	0
chr1	247323210	247323210	G	A	exonic	ZNF496	.	nonsynonymous SNV	ZNF496:NM_001329733:exon6:c.C595T:p.L199F,ZNF496:NM_032752:exon6:c.C595T:p.L199F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00158743056774	0.0002	.	0.0004	0.0002	8.649e-05	0	0.0008	0.0007	0	0	0.0003816	59	154602	rs201186610	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0	2.236e-05	0	0	0.0007	0	0.0005	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	7.237e-05	0.0022	0	0	0	0.0003	0	0.0004	0	0	0.198	0.20532	T	0.388	0.28300	T	0.002	0.09854	B	0.001	0.04355	B	0.666898	0.06013	N	1.222430	1	0.08975	N	1.905	0.50856	L	3.19	0.07353	T	-0.25	0.11008	N	0.169	0.17966	-0.9338	0.43575	T	0.012	0.04605	T	10	0.017545372	0.00375	T	0.001587	0.02548	T	0.024	0.04979	.	.	0.147330786459	0.14319	0.12303314856001939	0.12229	0.495246887071	0.48067	0.452861338854	0.32335	T	0.044578	0.26860	T	-0.567551	0.00229	T	-0.698991	0.05881	T	0.0124070422530836	0.00203	T	0.435556	0.12692	T	0.10653851	0.25190	0.051186644	0.08186	0.10653851	0.25190	0.051186644	0.08185	-4.561	0.31677	T	.	.	0.178	0.53480	B	.;.	.;.	1.850350	0.23505	16.04	0.72353643453333905	0.09943	0.09910	0.15557	N	AEFGBIJ	0.028473	0.02516	N	-0.950538778812732	0.09680	0.459221	-0.901085862157212	0.12069	0.6186554	0.90475401259835	0.26187	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.66	0.651	0.16989	0.353000	0.19868	.	.	0.672000	0.70159	0.420000	0.26330	1.000000	0.68203	0.879000	0.42020	0.2277:0.2005:0.5718:0.0	3.904	0.08676	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	916.83	41	chr1	247323210	.	G	A	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.329;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=0.089;SOR=0.655	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	5	0	1	0
chr1	247451343	247451343	G	A	exonic	OR2B11	.	nonsynonymous SNV	OR2B11:NM_001004492:exon1:c.C640T:p.P214S	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00159758455877	0.0003	0.000798722	0.0009	0	0.0002	0	0	0.0003	0.0022	0.0053	0.0007762	120	154602	rs138984792	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	5.974e-05	8.944e-05	3.826e-05	2.519e-05	0	0.0031	0.0001	0.0008	0.0057	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	4.812e-05	0	0	0	0	0	0	0.0002	0.0009	0.0042	0.001	0.78490	D	0.046	0.49120	D	0.905	0.49920	P	0.67	0.53116	P	0.000055	0.53742	D	0.000000	0.999988	0.18198	N	2.055	0.56616	M	0.49	0.55775	T	-7.81	0.95950	D	0.163	0.17140	-0.8278	0.53442	T	0.192	0.54418	T	10	0.011331111	0.00248	T	0.001598	0.02574	T	0.228	0.52768	.	.	0.733297738924	0.73092	0.6814191260334163	0.68080	0.471533087748	0.46419	0.311129689217	0.12077	T	0.015044	0.12694	T	-0.431299	0.01456	T	-0.391079	0.34425	T	0.197809443021719	0.20295	T	0.884811	0.60904	D	0.6751833	0.76711	0.5152324	0.71990	0.6751833	0.76712	0.5152324	0.71990	-8.221	0.62566	D	.	.	0.314	0.54071	B	.;.;.	.;.;.	3.072263	0.41302	21.3	0.99886544990139148	0.96126	0.08358	0.14298	N	AEFDGBI	0.071030	0.14123	N	0.0823687519785962	0.45642	2.817287	-0.00217118200658055	0.39618	2.35174	0.992921110383956	0.33019	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	0.043000	0.13855	.	.	-0.131000	0.13161	0.000000	0.06391	0.999000	0.35428	0.006000	0.07323	0.092:0.0:0.908:0.0	9.714	0.39427	851	0.35303	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	0.003021	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.011364	0.08333	1531.83	122	chr1	247451343	.	G	A	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.197;DP=443;ExcessHet=0;FS=4.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.129;SOR=0.791	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,103,1710	5	0	1	0
chr1	247841812	247841812	C	A	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G85T:p.V29F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000817092348505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.385	0.15746	T	0.009	0.15093	B	0.006	0.12133	B	0.807199	0.09279	U	0.862887	1	0.08975	N	0.87	0.21467	L	7.25	0.00428	T	-1.89	0.44094	N	0.139	0.13769	-0.9421	0.42282	T	0.001	0.00287	T	10	0.042234004	0.02953	T	8.17E-4	0.00670	T	0.027	0.05988	0.405	0.43738	0.354396617058	0.35051	0.1556322029912174	0.15484	0.0397869265571	0.04249	0.219152480364	0.01262	T	0.030666	0.21682	T	-0.293763	0.09262	T	-0.659747	0.08284	T	0.0588801167905331	0.06991	T	0.0724927	0.00530	T	0.07245021	0.16118	0.09013196	0.21117	0.07245021	0.16118	0.09013196	0.21116	-5.532	0.42166	T	.	.	0.084	0.09627	B	.	.	0.773909	0.11441	8.046	0.92764003248883453	0.22274	0.02678	0.07307	N	AEFDBI	0.030420	0.03061	N	-0.940465421774266	0.09908	0.4710711	-0.946974924739065	0.10993	0.5573292	1.97799550812837E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	1.25	0.20475	-2.355000	0.01168	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.1489:0.4526:0.145:0.2536	1.503	0.02332	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	586.83	39	chr1	247841812	.	C	A	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.629;DP=252;ExcessHet=0;FS=3.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.972;SOR=0.368	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr1	247857547	247857547	G	T	exonic	TRIM58	.	stopgain	TRIM58:NM_015431:exon1:c.G301T:p.E101X	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0090	0	0	0	0	0.0114	0	0.0238	0.0003493	54	154602	rs539377117	0.0014	0.0012	0.0013	0.0014	0.0040	0.0013	0.0013	0.0034	0.0032	8.689e-05	0.0005	0.0002	0	0.0007	0.0039	0.0014	0.0011	0.0040	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0006	0.0022	0.0018	0.0002	0	0.0003	0	0	0.0004	0	0.0012	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.008747	0.30686	N	0.225800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0921163	0.63427	D	0.357121	0.90594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.784188	0.96858	36	0.99346496703570719	0.60412	0.68405	0.33790	D	AEFDBHCIJ	0.150607	0.27492	N	0.160084756337063	0.49291	3.131097	-0.174687774665594	0.32471	1.847651	0.999999999998253	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.34	2.4	0.28568	3.048000	0.49552	.	.	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.3608:0.6392:0.0	12.488	0.55224	958	0.09170	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	0.003834	0.000000	0.006042	0.000000	0.000000	0.000000	0.013514	0.004132	0.08333	282.85	26	chr1	247857547	.	G	T	282.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.466;DP=93;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.898;SOR=0.458	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	5	0	1	0
chr1	247864796	247864796	G	A	exonic	TRIM58	.	nonsynonymous SNV	TRIM58:NM_015431:exon3:c.G608A:p.R203Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0058	0.00638978	0.0017	0.0200	0.0004	0	0	3.076e-05	0.0011	0	0.0016494	255	154602	rs61730479	0.0005	0.0005	0.0005	0.0004	0.0182	0.0005	0.0004	0.0170	0.0165	0.0182	0.0006	0	0	0	0.0004	1.169e-05	0.0010	3.478e-05	0.0050	0.0050	0.0052	0.0048	0.0177	0.0047	0.0046	0.0166	0.0162	0.0177	0	0.0012	0	0	0	0.0068	2.94e-05	0.0028	0.0002	0.112	0.28900	T	0.155	0.31936	T	0.033	0.20350	B	0.018	0.18489	B	0.130852	0.18644	N	0.423929	1	0.08975	N	1.875	0.49914	L	3.58	0.04594	T	-1.72	0.40850	N	0.231	0.25989	-1.0157	0.25110	T	0.007	0.02244	T	10	0.004550487	0.00094	T	.	.	.	0.014	0.01968	.	.	0.0920862733494	0.08535	0.12158439442137597	0.12085	0.0887304740811	0.10031	0.341002047062	0.16589	T	0.012746	0.11148	T	-0.682672	0.00046	T	-0.739108	0.03929	T	0.00229692957054996	0.00024	T	0.69993	0.30971	T	0.05466991	0.10520	0.05604559	0.09943	0.05466991	0.10519	0.05604559	0.09942	-5.073	0.37622	T	.	.	0.085	0.10159	B	.	.	1.103962	0.14884	11.41	0.98196053780010595	0.39079	0.02618	0.07200	N	AEFDBI	0.054732	0.09978	N	-0.87157437983737	0.11522	0.5565049	-0.964542651178105	0.10587	0.5341962	7.62946169329707E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.25	1.36	0.21139	0.388000	0.20461	.	.	-0.113000	0.14837	0.000000	0.06391	0.002000	0.18203	0.004000	0.06068	0.431:0.0:0.569:0.0	5.615	0.16708	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1113.83	94	chr1	247864796	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=274;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.28;SOR=0.487	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1174	5	0	1	0
chr1	247896487	247896487	C	A	exonic	OR2W3	.	nonsynonymous SNV	OR2W3:NM_001001957:exon1:c.C901A:p.L301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00249526948336	.	.	8.38e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs780525144	2.806e-05	2.805e-05	6.808e-06	4.952e-05	0.0005	2.087e-05	1.879e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.203	0.27325	T	1.0	0.90584	D	0.992	0.80445	D	0.000229	0.47286	D	0.000000	1	0.08975	N	1.08	0.27187	L	0.87	0.46412	T	-1.06	0.27669	N	0.281	0.31814	-0.9310	0.43992	T	0.202	0.55836	T	10	0.13607836	0.25892	T	0.002495	0.04953	T	0.220	0.51569	0.536	0.64585	0.308278614506	0.30437	0.16233420741761348	0.16153	.	.	0.279312282801	0.07396	T	0.007757	0.07145	T	-0.342709	0.05203	T	-0.393795	0.34107	T	0.103865139186382	0.12776	T	0.732927	0.34859	T	0.09771456	0.23037	0.08905937	0.20804	0.09771456	0.23037	0.08905937	0.20804	-5.231	0.39255	T	.	.	0.123	0.25753	B	.	.	0.522955	0.08917	5.698	0.65512603293005778	0.07794	0.08548	0.14462	N	AEFBI	0.058004	0.10850	N	-0.160545818934672	0.34789	1.98993	-0.384631754188764	0.25455	1.399936	3.83575852005089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.28	0.27583	-0.211000	0.09336	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.0:0.7688:0.0:0.2312	9.970	0.40916	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	676.83	38	chr1	247896487	.	C	A	676.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=241;ExcessHet=0;FS=2.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.981;SOR=1.341	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr1	248061184	248061184	G	-	exonic	OR2L3	.	frameshift deletion	OR2L3:NM_001004687:exon1:c.503delG:p.C168Sfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.947e-05	0.0006	0	0	0	0	0	0	3.88e-05	6	154602	rs754670403	8.211e-06	9.577e-06	9.531e-06	6.877e-06	0.0002	4.38e-06	3.46e-06	7.724e-05	5.313e-05	0.0002	0	0	0	0	0	8.995e-07	8.28e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	9.193e-05	7.742e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3458.79	317	chr1	248061183	.	TG	T	3458.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.26;DP=631;ExcessHet=0;FS=5.414;MLEAC=1;MLEAF=0.083;MQ=53.93;MQRankSum=-10.34;QD=10.91;ReadPosRankSum=1.07;SOR=0.979	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1257	5	0	1	0
chr1	248203299	248203299	G	A	exonic	OR2M3	.	nonsynonymous SNV	OR2M3:NM_001004689:exon1:c.G232A:p.V78I	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0077	0.00758786	0.0024	0.0249	0.0010	0	0	0.0003	0.0044	0	0.0023092	357	154602	rs141884297	0.0009	0.0009	0.0009	0.0008	0.0236	0.0008	0.0008	0.0223	0.0217	0.0236	0.0019	0	2.519e-05	0	0.0033	0.0002	0.0023	0.0001	0.0072	0.0072	0.0072	0.0072	0.0237	0.0069	0.0067	0.0225	0.0220	0.0237	0	0.0050	0	0	0	0.0034	0.0002	0.0090	0.0006	0.062	0.36912	T	0.132	0.34477	T	0.584	0.38894	P	0.226	0.38054	B	0.169389	0.17420	N	0.307216	1	0.08975	N	1.07	0.27075	L	4.16	0.02791	T	-0.79	0.21860	N	0.04	0.01347	-0.9221	0.45265	T	0.004	0.01159	T	10	0.0049291253	0.00106	T	.	.	.	0.058	0.16647	.	.	0.203808441222	0.19973	0.037155270038555864	0.03662	0.0590075676526	0.06553	0.255547016859	0.04374	T	0.00589	0.05335	T	-0.766151	0.00014	T	-0.853027	0.00922	T	0.00650896351538766	0.00073	T	0.842016	0.51794	T	0.037625518	0.04859	0.04759209	0.06887	0.037625518	0.04859	0.04759209	0.06887	-5.254	0.39486	T	.	.	0.096	0.15341	B	.;.	.;.	1.881717	0.23898	16.19	0.97015979273823127	0.32006	0.00255	0.01401	N	AEFI	0.014324	0.00223	N	-0.633002895738426	0.17959	0.9285716	-0.742858380930332	0.15897	0.8384088	2.17526011209308E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.44	2.44	0.28875	-2.950000	0.00743	-6.325000	0.01430	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.1509:0.2532:0.5959:0.0	3.930	0.08779	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006871	0.020202	0.009511	0.004098	0.000000	0.008621	0.003049	0.000000	0.08333	5142.83	310	chr1	248203299	.	G	A	5142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.62;DP=488;ExcessHet=0;FS=0.415;MLEAC=1;MLEAF=0.083;MQ=57.12;MQRankSum=-2.286;QD=16.59;ReadPosRankSum=-1.808;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1351	5	0	1	0
chr1	248324183	248324183	G	-	exonic	OR2M7	.	frameshift deletion	OR2M7:NM_001004691:exon1:c.386delC:p.P129Lfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0006	0	0	0	0	0	0	0.0045	0.0004916	76	154602	rs551166538	0.0003	0.0003	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	0	0	0	0	0	0	8.994e-07	0.0002	0.0041	0.0001	0.0001	5.14e-05	0.0002	0.0037	8.66e-05	7.253e-05	0.0024	0.0020	4.812e-05	0	0	0	0	0	0	0	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5025.79	229	chr1	248324182	.	AG	A	5025.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=1747;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=-1.131;QD=12.53;ReadPosRankSum=-1.916;SOR=0.843	GT:AD:DP:GQ:PL	0/1:226,175:401:99:5036,0,6782	5	0	1	0
chr1	248441330	248441330	A	G	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.A214G:p.I72V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027691331276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781331568	6.843e-07	1.368e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	841.83	75	chr1	248441330	.	A	G	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.329;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.15;MQRankSum=0.678;QD=8.33;ReadPosRankSum=-0.345;SOR=0.653	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1428	5	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1377.83	99	chr1	248441544	.	G	A	1377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.982;DP=569;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=45.66;MQRankSum=7.83;QD=13.92;ReadPosRankSum=3.41;SOR=0.745	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	5	0	1	0
chr1	248453739	248453739	-	ATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT	exonic	OR2T2	.	stopgain	OR2T2:NM_001004136:exon1:c.942_943insATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT:p.A318Mfs*4	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	6.515e-05	0.0003	7.098e-05	5.926e-05	0.0026	5.441e-05	5.054e-05	0.0021	0.0020	0.0026	0.0001	0	0	0	0.0002	0	0.0001	0	0.0007	0.0037	0.0007	0.0006	0.0025	0.0006	0.0005	0.0021	0.0020	0.0025	0	0.0001	0	0	0	0.0105	1.473e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	420.79	178	chr1	248453739	.	C	CATCAGGGTGATGACTGTGTGATCAGGAAGGACTAACAGGGACTCCCAGAGAGT	420.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.257;DP=540;ExcessHet=0;FS=5.957;MLEAC=1;MLEAF=0.083;MQ=50.95;MQRankSum=-1.967;QD=2.36;ReadPosRankSum=-6.845;SOR=0.953	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr1	248473897	248473897	T	C	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.T547C:p.F183L	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000823009984237	0.0006	.	0.0013	0.0003	0.0004	0	0.0037	0.0017	0.0012	0.0006	0.0012679	33	26028	rs142810128	0.0029	0.0057	0.0029	0.0028	0.0037	0.0028	0.0028	0.0031	0.0031	0.0004	0.0011	0.0005	2.528e-05	0.0059	0.0037	0.0032	0.0023	0.0005	0.0019	0.0036	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0004	0.0011	0.0005	0.0009	0	0.0045	0.0035	0.0029	0.0025	0	0.001	0.78490	D	0.089	0.40426	T	0.999	0.77913	D	0.974	0.73157	D	.	.	.	.	0.998937	0.21783	N	2.615	0.76484	M	8.52	0.00202	T	-5.93	0.89029	D	0.29	0.32812	-0.8975	0.48244	T	0.002	0.00497	T	9	0.025983632	0.00777	T	8.23E-4	0.00670	T	0.064	0.18567	0.448	0.50793	0.451023696535	0.44722	0.042905737296640725	0.04235	.	.	0.280911803246	0.07620	T	0.006278	0.05717	T	-0.126297	0.32097	T	-0.419193	0.31167	T	0.0779457387985252	0.09721	T	.	.	.	0.42632964	0.62511	0.4925666	0.70648	0.42632964	0.62511	0.4925666	0.70648	-6.696	0.51780	T	.	.	0.851	0.79818	P	.	.	2.794078	0.36740	20.3	0.99605411732801985	0.74456	0.77980	0.38408	D	AEFI	0.074977	0.15045	N	0.0199303681782081	0.42762	2.582673	-0.200406707725327	0.31522	1.784745	0.774527410767422	0.23729	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	1.405000	0.34243	-5.200000	0.01809	0.472000	0.21952	0.605000	0.27788	0.000000	0.08366	0.005000	0.06747	0.0:0.0:0.0:1.0	9.311	0.37065	982	0.03397	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	0.001171	0.000000	0.001374	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	77.83	33	chr1	248473897	.	T	C	77.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.518;SOR=1.329	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	5	0	1	0
chr1	248488736	248488736	A	G	exonic	OR2T5	.	nonsynonymous SNV	OR2T5:NM_001004697:exon1:c.A148G:p.I50V	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0017	.	0.0040	0.0519	0.0018	0.0008	0	0.0001	0.0036	0.0076	0.0004226	11	26028	rs143671706	0.0011	0.0015	0.0010	0.0011	0.0301	0.0010	0.0010	0.0282	0.0274	0.0301	0.0013	0	0.0003	0	0.0021	4.982e-05	0.0025	0.0053	0.0034	0.0076	0.0032	0.0036	0.0174	0.0031	0.0030	0.0159	0.0153	0.0174	0	0.0009	0	0	0	0	8.005e-05	0.0034	0.0035	.	.	.	.	.	.	0.076	0.24253	B	0.057	0.26280	B	0.000287	0.46274	D	0.000000	1	0.08975	N	1.66	0.42513	L	.	.	.	.	.	.	.	.	-0.9683	0.37551	T	0.001	0.00222	T	10	0.0038287342	0.00072	T	.	.	.	.	.	.	.	.	.	0.05167285982218895	0.05109	.	.	0.345164209604	0.17207	T	0.004022	0.03433	T	-0.59286	0.00161	T	-0.594392	0.13287	T	0.00552354011378779	0.00060	T	.	.	.	0.1290702	0.30156	0.073580906	0.16005	0.1290702	0.30156	0.073580906	0.16004	-4.95	0.36292	T	.	.	0.132	0.28521	B	.	.	0.818719	0.11898	8.463	0.66550244410202553	0.08092	0.01591	0.05172	N	AEFI	0.033306	0.03923	N	-0.717073567595196	0.15542	0.7841526	-0.741984737242064	0.15919	0.83965	6.86099449116442E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.64	2.64	0.30504	0.243000	0.17880	-2.464000	0.03722	0.558000	0.28311	0.013000	0.18845	0.000000	0.08366	0.002000	0.04165	1.0:0.0:0.0:0.0	9.867	0.40319	982	0.03397	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	0.009033	0.000000	0.020436	0.004098	0.000000	0.000000	0.000000	0.000000	0.08333	811.83	103	chr1	248488736	.	A	G	811.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=509;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=30.73;MQRankSum=0.012;QD=7.88;ReadPosRankSum=-1.35;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	5	0	1	0
chr1	248559344	248559344	T	C	exonic	OR2T29;OR2T5	.	nonsynonymous SNV	OR2T29:NM_001004694:exon1:c.A148G:p.I50V,OR2T5:NM_001004697:exon1:c.A148G:p.I50V	.	464	1051	7	0	0	7	0.00331911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0131	.	0.0067	0.0481	0.0031	0.0008	0	0.0002	0.0051	0.0112	0.0001537	4	26028	rs375047963	0.0014	0.0016	0.0013	0.0015	0.0260	0.0013	0.0013	0.0245	0.0239	0.0260	0.0018	0	0.0005	0	0.0032	8.92e-05	0.0035	0.0069	0.0097	0.0091	0.0091	0.0103	0.0226	0.0090	0.0088	0.0211	0.0205	0.0226	0	0.0044	0	0.0016	0	0	0.0002	0.0084	0.0156	0.197	0.20607	T	0.241	0.24334	T	0.076	0.24253	B	0.057	0.26280	B	0.000287	0.46274	D	0.000000	1	0.08975	N	1.095	0.27400	L	7.77	0.00338	T	-0.82	0.22508	N	0.11	0.09631	-0.9511	0.40782	T	0.000	0.00114	T	10	0.008982301	0.00203	T	.	.	.	0.060	0.17295	.	.	0.521491996246	0.51792	0.04044541805046054	0.03990	1.6842048555	0.90037	0.284375488758	0.08110	T	0.002219	0.01623	T	-0.385014	0.02896	T	-0.790823	0.02142	T	0.00306081240462045	0.00032	T	0.663034	0.27207	T	0.16863716	0.37334	0.08079859	0.18309	0.16863716	0.37333	0.08079859	0.18309	-4.965	0.36458	T	.	.	0.148	0.32613	B	.;.	.;.	0.743538	0.11128	7.774	0.53575851636748217	0.04967	0.04528	0.10159	N	AEFI	0.050884	0.08937	N	-0.746120549974907	0.14739	0.7367625	-0.766275580193238	0.15324	0.8053032	1.69163343386718E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.73	1.49	0.21966	-0.646000	0.05501	-2.685000	0.03469	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.0:0.1439:0.0:0.8561	6.136	0.19448	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	0.006637	0.000000	0.013661	0.003817	0.000000	0.000000	0.000000	0.000000	0.08333	329.83	92	chr1	248559344	.	T	C	329.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.192;DP=288;ExcessHet=0;FS=14.574;MLEAC=1;MLEAF=0.083;MQ=43.33;MQRankSum=-3.387;QD=3.59;ReadPosRankSum=-0.794;SOR=3.433	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1502	5	0	1	0
chr1	248574211	248574211	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T547C:p.F183L	.	419	1074	29	0	0	29	0.0133211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0029	0.00219649	0.0056	0.0009	0.0022	0	0.0162	0.0078	0.0022	0.0010	0.0004592	71	154602	rs148006635	0.0056	0.0064	0.0056	0.0057	0.0075	0.0055	0.0055	0.0061	0.0060	0.0007	0.0021	0.0009	2.519e-05	0.0151	0.0075	0.0062	0.0047	0.0009	0.0050	0.0055	0.0048	0.0051	0.0076	0.0047	0.0046	0.0070	0.0068	0.0010	0.0022	0.0018	0.0012	0	0.0126	0.0068	0.0076	0.0053	0.0006	0.001	0.78490	D	0.094	0.39645	T	0.995	0.67487	D	0.956	0.69739	D	.	.	.	.	0.999639	0.20820	N	2.315	0.66250	M	8.52	0.00202	T	-5.93	0.89029	D	0.34	0.38129	-0.9201	0.45540	T	0.002	0.00526	T	9	0.014186472	0.00299	T	.	.	.	0.104	0.29647	0.47	0.54376	0.564560304341	0.56119	0.05930058072727752	0.05870	.	.	0.30463373661	0.11096	T	0.005492	0.04941	T	-0.533322	0.00367	T	-0.534151	0.18873	T	0.074082154476566	0.09213	T	0.778722	0.41238	T	0.521896	0.68368	0.5097713	0.71670	0.521896	0.68369	0.5097713	0.71670	-6.617	0.51183	T	.	.	0.754	0.75239	P	.	.	2.914086	0.38662	20.8	0.99351913127643576	0.60615	0.88468	0.48410	D	AEGI	0.086981	0.17636	N	0.0759686768260617	0.45343	2.79245	-0.15928088697545	0.33053	1.886712	1.57936258024448E-4	0.05650	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.065000	0.49687	0.065000	0.14184	0.351000	0.19951	0.985000	0.35982	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	9.241	0.36656	982	0.03397	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	0.004745	0.000000	0.008242	0.008547	0.000000	0.008772	0.003788	0.000000	0.08333	1605.83	144	chr1	248574211	.	A	G	1605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.71;DP=586;ExcessHet=0;FS=4.346;MLEAC=1;MLEAF=0.083;MQ=49.61;MQRankSum=2.86;QD=7.5;ReadPosRankSum=1.1;SOR=1.003	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	5	0	1	0
chr1	248626521	248626521	A	C	exonic	OR2T11	.	nonsynonymous SNV	OR2T11:NM_001001964:exon1:c.T608G:p.M203R	.	450	1054	16	2	0	20	0.0093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0065	0.00439297	0.0068	0.0011	0.0011	0	0.0019	0.0081	0.0057	0.0143	0.006727	1040	154602	rs75010552	0.0080	0.0080	0.0078	0.0082	0.0130	0.0079	0.0078	0.0124	0.0121	0.0011	0.0014	0.0112	0	0.0031	0.0062	0.0086	0.0069	0.0130	0.0053	0.0054	0.0054	0.0051	0.0110	0.0050	0.0048	0.0086	0.0078	0.0015	0	0.0014	0.0076	0	0.0021	0.0034	0.0086	0.0064	0.0110	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.001684	0.38271	N	0.117293	1	0.08975	N	1.675	0.43121	L	.	.	.	.	.	.	.	.	-0.9871	0.33323	T	0.001	0.00348	T	10	0.007418275	0.00169	T	.	.	.	.	.	.	.	.	.	0.6370600075305525	0.63640	.	.	0.215478181839	0.01065	T	0.014411	0.12276	T	-0.429423	0.01494	T	-0.384485	0.35196	T	0.0921185967970797	0.11467	T	0.710429	0.32156	T	0.7011599	0.78120	0.6567196	0.79899	0.7011599	0.78121	0.6567196	0.79899	-13.632	0.91800	D	.	.	0.188	0.40506	B	.;.	.;.	3.807132	0.54888	23.5	0.97186750377559405	0.32749	0.13359	0.17811	N	AEFGBI	0.076973	0.15498	N	0.0749656430763498	0.45297	2.788596	-0.0880940765303263	0.35882	2.081206	4.07668547973455E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.38	3.26	0.36471	1.439000	0.34623	-0.116000	0.11774	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.828:0.0:0.0:0.172	8.59	0.32843	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	1	0	0	0	0	0	0	0	0	0	0	0.008163	0.005102	0.006812	0.002976	0.000000	0.017544	0.006250	0.011628	0.1667	11200.1	180	chr1	248626521	.	A	C	11200.1	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.5;DP=1708;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.911;SOR=0.693	GT:AD:DP:GQ:PL	0/1:208,196:404:99:5528,0,5422	4	0	2	0
chr1	248650803	248650804	AG	-	exonic	OR2T27	.	frameshift deletion	OR2T27:NM_001001824:exon1:c.81_82del:p.F28Cfs*83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1370108189	1.302e-05	0.0002	1.773e-05	8.264e-06	0.0002	8.33e-06	6.71e-06	0.0001	8.769e-05	0.0002	6.731e-05	0	2.52e-05	0	0	3.602e-06	4.979e-05	0	0.0015	0.0062	0.0015	0.0015	0.0048	0.0013	0.0013	0.0043	0.0041	0.0048	0	0.0012	0	0	0	0	5.948e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46.79	55	chr1	248650802	.	AAG	A	46.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=414;ExcessHet=0;FS=8.076;MLEAC=1;MLEAF=0.083;MQ=43.05;MQRankSum=-0.86;QD=0.85;ReadPosRankSum=-1.582;SOR=1.903	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	5	0	1	0
chr2	1638926	1638926	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4126T:p.R1376C	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	366027	Inborn_genetic_diseases|not_provided|Anterior_segment_dysgenesis_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0414906527345	0.0004	.	0.0002	0	0	0	0	0.0004	0	0	0.0002523	39	154602	rs202081704	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0001	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0005	0.0002	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.24e-05	0	0.0003	0	0	0	0	0.0005	0	0	0.08	0.33585	T	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.187772	0.16929	N	0.635120	0.999331	0.21346	N	1.39	0.34934	L	0.12	0.61089	T	-2.33	0.51646	N	0.163	0.17140	-1.0298	0.20519	T	0.103	0.38019	T	10	0.06985924	0.10084	T	0.041491	0.59953	D	0.135	0.36572	.	.	0.400468435593	0.39662	0.4580767984702474	0.45725	0.765822542623	0.64496	0.197311609983	0.00383	T	0.025743	0.19191	T	-0.393523	0.02552	T	-0.464653	0.26095	T	0.0686833657113886	0.08465	T	0.660434	0.26965	T	0.10524921	0.24885	0.056732856	0.10190	0.10524921	0.24884	0.056732856	0.10189	-5.602	0.42810	T	0.15143793752019005	0.17866	0.092	0.13409	B	.	.	2.624591	0.34115	19.54	0.97905938700492445	0.36780	0.56812	0.30213	D	AEFBCI	0.306597	0.41370	N	-0.570796702540349	0.19837	1.041282	-0.462617855517965	0.23191	1.263476	0.999960554841578	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.565000	0.45602	7.086000	0.57489	0.675000	0.71128	0.372000	0.25940	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.8443:0.1556	13.518	0.61010	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	.	.	.	.	.	.	.	.	0.08333	1116.83	54	chr2	1638926	.	G	A	1116.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.174;DP=309;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.484;SOR=0.485	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr2	3681708	3681708	G	T	exonic	ALLC	.	nonsynonymous SNV	ALLC:NM_018436:exon6:c.G373T:p.A125S	.	10	1511	1	0	0	1	0.000330797	.	.	.	4158816	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00255851694961	.	.	2.336e-05	0	0	0	0	4.186e-05	0	0	1.29e-05	2	154602	rs749009526	4.397e-05	4.447e-05	4.507e-05	4.285e-05	0.0028	3.524e-05	3.207e-05	0.0017	0.0014	6.003e-05	4.536e-05	0	0	0	0.0028	3.157e-05	0.0001	1.18e-05	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0001	8.14e-06	5.14e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0	0.702	0.04148	T	0.707	0.05582	T	.	.	.	.	.	.	0.009530	0.30318	N	0.387373	1	0.08975	N	.	.	.	.	.	.	0.25	0.04456	N	0.088	0.06587	-1.0295	0.20616	T	0.056	0.23602	T	9	0.042873412	0.03079	T	0.002559	0.05150	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.27936613195300564	0.27849	0.0552922057858	0.06117	0.322305321693	0.13770	T	.	.	.	-0.415241	0.01836	T	-0.655169	0.08596	T	0.0173166445760277	0.00471	T	0.542746	0.18485	T	0.035968322	0.04335	0.037192017	0.03321	0.035968322	0.04334	0.037192017	0.03321	-3.354	0.14444	T	.	.	0.079	0.07318	B	.	.	0.315782	0.06908	3.445	0.51494055798849014	0.04573	0.04399	0.09983	N	AEFBI	0.053770	0.09717	N	-1.02645829773793	0.08057	0.3764727	-1.04724392606691	0.08764	0.4325232	5.95006950870974E-4	0.07414	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	4.98	0.827	0.17972	0.182000	0.16710	1.166000	0.24589	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0942:0.0:0.4057:0.5	5.757	0.17443	952	0.10565	Allantoicase 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	0.002518	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	568.83	37	chr2	3681708	.	G	T	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.147;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.144;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	5	0	1	0
chr2	3695764	3695764	T	G	exonic	ALLC	.	nonsynonymous SNV	ALLC:NM_018436:exon8:c.T559G:p.W187G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.00388950677317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	-9.84	0.98700	D	0.81	0.80572	-0.0986	0.80130	T	0.458	0.78924	T	9	0.849365	0.84110	D	0.00389	0.09148	T	0.302	0.62290	.	.	0.159798565429	0.15598	0.7289546988876557	0.72839	0.453027064754	0.45001	0.512591540813	0.40585	T	.	.	.	0.219182	0.75696	D	0.0770626	0.75381	D	0.999643445014954	0.98300	D	0.580242	0.20999	T	0.8537932	0.87617	0.8245123	0.89829	0.8537932	0.87618	0.8245123	0.89829	-13.038	0.89520	D	.	.	0.496	0.64408	A	.	.	5.082527	0.84829	28.4	0.98270157421846704	0.39750	0.89083	0.49339	D	AEFBI	0.673207	0.63934	D	0.680761625756102	0.78372	6.858255	0.629337855820839	0.77081	6.610999	0.871773140554408	0.25432	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	4.192000	0.58176	7.440000	0.58865	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.409	0.60378	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	634.83	40	chr2	3695764	.	T	G	634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.917;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.288;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1284	5	0	1	0
chr2	9543235	9543235	T	C	exonic	ADAM17	.	nonsynonymous SNV	ADAM17:NM_003183:exon2:c.A148G:p.I50V	.	6	1514	2	0	0	2	0.000660066	.	.	.	451499	ADAM17-related_disorder|Inflammatory_skin_and_bowel_disease,_neonatal,_1|not_provided	.|MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.111	0.00418086133511	0.0030	0.00179712	0.0037	0.0011	0.0036	0.0001	0.0039	0.0054	0.0011	0.0006	0.0036739	568	154602	rs61754178	0.0046	0.0046	0.0047	0.0045	0.0053	0.0045	0.0045	0.0052	0.0052	0.0006	0.0048	0.0011	0	0.0039	0.0007	0.0053	0.0036	0.0009	0.0042	0.0042	0.0042	0.0042	0.0075	0.0039	0.0038	0.0064	0.0060	0.0010	0.0143	0.0075	0.0017	0	0.0036	0	0.0059	0.0080	0.0006	0.304	0.14303	T	0.117	0.40586	T	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	D	0.053469	0.773564	0.34180	D	2.095	0.58118	M	3.4	0.05642	T	-0.57	0.18877	N	0.489	0.52297	-1.0309	0.20163	T	0.044	0.18906	T	10	0.0067513883	0.00153	T	0.004181	0.10058	T	0.111	0.31313	.	.	0.447219684837	0.44343	0.38898428237473115	0.38813	0.592222424292	0.54623	0.577706754208	0.49763	T	0.051	0.28641	T	-0.476015	0.00781	T	-0.45462	0.27187	T	0.0344053946125191	0.02706	T	0.935206	0.76101	D	0.13874726	0.32077	0.12235683	0.29515	0.17529742	0.38380	0.113125175	0.27300	-2.934	0.09487	T	.	.	0.094	0.41992	B	.;.;.	.;.;.	2.537304	0.32816	19.16	0.99855815889858179	0.93458	0.93222	0.57644	D	AEFBI	0.353586	0.44596	N	0.319011858257661	0.57125	3.878717	0.372166023018629	0.59855	4.166949	0.999999290401688	0.74766	0.736574	0.97449	0	0.658105	0.61773	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	5.29	5.29	0.74430	5.438000	0.66300	4.167000	0.42248	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.552	0.75899	607	0.67291	Peptidase M12B, propeptide;Peptidase M12B, propeptide;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.015152	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	492.83	38	chr2	9543235	.	T	C	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.51;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1050	5	0	1	0
chr2	10607266	10607266	T	A	exonic	NOL10	.	nonsynonymous SNV	NOL10:NM_001261392:exon13:c.A994T:p.T332S,NOL10:NM_001261394:exon13:c.A922T:p.T308S,NOL10:NM_024894:exon14:c.A1072T:p.T358S	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0759572217758	.	0.000599042	0.0004	0	0.0005	0	0	0.0002	0	0.0015	0.000304	47	154602	rs201230711	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0001	0.0016	0.0013	0	0.0003	0	0	0	0.0026	8.2e-05	0.0002	0.0014	0.0001	0.0001	0.0001	9.402e-05	0.0010	6.508e-05	5.32e-05	0.0004	0.0003	0	0	6.537e-05	0	0	0	0	0.0001	0.0005	0.0010	0.006	0.61437	D	0.01	0.66756	D	0.961	0.64738	D	0.756	0.64641	P	0.000000	0.84330	D	0.089964	1	0.81001	D	3.325	0.90780	M	0.19	0.60236	T	-3.8	0.71762	D	0.827	0.84194	0.159	0.85206	D	0.473	0.79753	T	10	0.33092368	0.50322	T	0.075957	0.72416	D	0.417	0.72705	0.583	0.70990	0.754972118733	0.75275	0.6673765405415261	0.66675	0.48814725497	0.47630	0.815976858139	0.84411	D	0.339444	0.70859	T	-0.0849957	0.38900	T	0.0697549	0.74894	D	0.323579698801041	0.25966	T	0.979702	0.93041	D	0.56198484	0.70619	0.516831	0.72083	0.56198484	0.70620	0.516831	0.72084	-10.058	0.76927	D	.	.	0.941	0.85964	P	.;.;.	.;.;.	4.533240	0.71188	25.6	0.99701072762543375	0.80660	0.98737	0.86207	D	AEFDGBI	0.909026	0.86512	D	0.874418292964773	0.90452	10.41015	0.82187109512684	0.91272	10.803	0.999999998924122	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	7.795000	0.84442	7.722000	0.67351	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	16.064	0.80667	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	704.83	41	chr2	10607266	.	T	A	704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.036;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	5	0	1	0
chr2	10768726	10768726	C	T	exonic	ATP6V1C2	.	nonsynonymous SNV	ATP6V1C2:NM_001039362:exon6:c.C386T:p.A129V,ATP6V1C2:NM_144583:exon6:c.C386T:p.A129V	.	431	1088	3	0	0	3	0.00137678	.	.	.	2342162	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.0105355701003	7.7e-05	.	0.0002	0	0	0.0001	0	0.0002	0.0011	6.06e-05	0.0001294	20	154602	rs371007689	0.0001	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	8.961e-05	0	3.826e-05	0	1.878e-05	0.0009	0.0002	0.0001	4.637e-05	0.0001	0.0001	0.0001	6.712e-05	0.0002	6.505e-05	5.318e-05	0.0001	7.893e-05	0	0	0.0001	0	0	9.42e-05	0	0.0002	0.0005	0	0.009	0.57480	D	0.05	0.48080	T	0.89	0.48942	P	0.322	0.41795	B	0.001539	0.38731	N	0.259454	0.902033	0.36195	D	0.91	0.23283	L	0.89	0.45636	T	-1.89	0.45222	N	0.102	0.20129	-0.8961	0.48380	T	0.100	0.37213	T	10	0.21684864	0.38279	T	0.010536	0.27195	T	0.077	0.22490	.	.	0.453588565359	0.44983	0.3095173161531783	0.30864	0.179474252234	0.20186	0.389189988375	0.23555	T	0.022538	0.17359	T	-0.356263	0.04345	T	-0.453331	0.27329	T	0.095609894201499	0.11867	T	0.859314	0.55085	D	0.14614101	0.33468	0.17261438	0.39529	0.14614101	0.33467	0.17261438	0.39528	-5.084	0.38952	T	.	.	0.108	0.21877	B	.;.;.;.	.;.;.;.	3.990118	0.58720	24.0	0.99823740242084635	0.90590	0.92101	0.54947	D	AEFDGBI	0.445790	0.50212	N	0.241582936671042	0.53224	3.492302	0.290431930706035	0.54978	3.661587	0.999999993867611	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	2.941000	0.48703	2.621000	0.33635	0.599000	0.40250	0.957000	0.33433	0.992000	0.31684	0.556000	0.30317	0.0:1.0:0.0:0.0	16.239	0.82222	753	0.51500	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1365.83	111	chr2	10768726	.	C	T	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.752;DP=301;ExcessHet=0;FS=3.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.755;SOR=0.409	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1173	5	0	1	0
chr2	15940690	15940699	CACCCGGAGA	-	exonic	MYCN	.	frameshift deletion	MYCN:NM_001293231:exon1:c.104_113del:p.G37Afs*68,MYCN:NM_001293233:exon1:c.104_113del:p.G37Afs*517	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	624.79	26	chr2	15940689	.	CCACCCGGAGA	C	624.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=193;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.03;ReadPosRankSum=0.395;SOR=1.092	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1026	5	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1824.83	38	chr2	17515931	.	A	T	1824.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=318;ExcessHet=0;FS=3.437;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-1.263;SOR=1.047	GT:AD:DP:GQ:PL	0/1:49,68:117:99:1835,0,1252	5	0	1	0
chr2	17781904	17781904	C	T	exonic	GEN1	.	nonsynonymous SNV	GEN1:NM_001130009:exon14:c.C2692T:p.R898C,GEN1:NM_182625:exon14:c.C2692T:p.R898C	.	428	1092	2	0	0	2	0.000914913	.	.	.	1153906	GEN1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0068	0.00419329	0.0074	0.0014	0.0054	0	0.0036	0.0106	0.0048	0.0047	0.0075225	1163	154602	rs17315702	0.0094	0.0093	0.0096	0.0092	0.0109	0.0092	0.0092	0.0107	0.0106	0.0012	0.0052	0.0097	5.075e-05	0.0031	0.0011	0.0109	0.0083	0.0034	0.0065	0.0065	0.0072	0.0057	0.0105	0.0061	0.0060	0.0098	0.0096	0.0017	0.0526	0.0054	0.0087	0.0002	0.0024	0	0.0105	0.0052	0.0012	0.187	0.21385	T	0.19	0.28482	T	0.001	0.07471	B	0.0	0.01387	B	0.733397	0.09836	N	0.879991	0.537176	0.51308	D	0.455	0.12820	N	1.83	0.24841	T	0.31	0.04022	N	0.082	0.06059	-0.9976	0.30590	T	0.021	0.08917	T	10	0.0028971434	0.00046	T	.	.	.	0.059	0.16972	.	.	0.215869574891	0.21205	0.18330476624040817	0.18249	0.0361236122367	0.03815	0.201058283448	0.00488	T	0.001044	0.00572	T	-0.643387	0.00079	T	-0.687563	0.06531	T	0.0154174521615262	0.00345	T	0.659934	0.26896	T	0.0363039	0.04440	0.031369373	0.01715	0.0363039	0.04440	0.031369373	0.01715	-4.77	0.34240	T	.	.	0.049	0.00122	B	.;.	.;.	1.654125	0.21100	15.05	0.84260807559007933	0.15188	0.07501	0.13516	N	AEFBI	0.025823	0.01834	N	-0.911756296512048	0.10566	0.5055271	-0.785622471186283	0.14847	0.7779274	0.890209932703725	0.25830	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.94	-2.52	0.05978	-0.127000	0.10524	-0.509000	0.08757	-0.883000	0.02445	0.905000	0.31549	0.000000	0.08366	0.890000	0.42831	0.284:0.1804:0.15:0.3857	0.370	0.00351	573	0.70213	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.020202	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	244.83	28	chr2	17781904	.	C	T	244.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=-1.736;SOR=0.509	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr2	18563968	18563968	C	T	exonic	NT5C1B;NT5C1B-RDH14	.	nonsynonymous SNV	NT5C1B:NM_033253:exon9:c.G1481A:p.R494H,NT5C1B:NM_001002006:exon10:c.G1661A:p.R554H,NT5C1B:NM_001199086:exon10:c.G1610A:p.R537H,NT5C1B:NM_001199087:exon10:c.G1712A:p.R571H,NT5C1B:NM_001199088:exon10:c.G1667A:p.R556H,NT5C1B-RDH14:NM_001199104:exon10:c.G1661A:p.R554H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00652359372663	0.0008	0.000599042	0.0011	9.619e-05	8.639e-05	0	0	0.0017	0.0011	0.0010	0.0009832	152	154602	rs147855687	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0009	0.0003	0.0003	0.0148	0	0.0001	0.0017	0.0006	0.0017	0.0012	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	9.62e-05	0	6.533e-05	0.0150	0.0002	0	0.0034	0.0006	0.0009	0.0023	0.053	0.38863	T	0.166	0.30828	T	0.63	0.41398	P	0.074	0.36341	B	0.000019	0.62929	N	0.206930	0.557917	0.34043	D	0.58	0.15352	N	.	.	.	-0.67	0.22078	N	0.348	0.38950	-0.6139	0.64242	T	0.151	0.47962	T	9	0.0077632368	0.00176	T	0.006524	0.17186	T	0.117	0.32689	.	.	0.28058544554	0.27657	0.5612202216183593	0.58706	0.307625771685	0.41872	.	.	.	0.065347	0.32665	T	-0.319506	0.06939	T	-0.292323	0.45531	T	0.0241560414433479	0.01164	T	0.709329	0.31993	T	0.116739795	0.27531	0.11729164	0.28313	0.116739795	0.27531	0.11729164	0.28313	-3.366	0.19925	T	.	.	0.102	0.24498	B	.;.;.	.;.;.	3.970379	0.58292	24.0	0.99818088375588232	0.90150	0.92965	0.56985	D	AEFBI	0.479040	0.52135	N	0.083544611945943	0.45695	2.821827	0.234383112524604	0.51765	3.356302	0.997368072514315	0.35541	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	4.26	0.49832	3.301000	0.51549	2.807000	0.34886	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7664:0.2336:0.0	18.697	0.91566	961	0.08552	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1344.83	41	chr2	18563968	.	C	T	1344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.773;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.976;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1325	5	0	1	0
chr2	20040914	20040914	T	A	exonic	LAPTM4A	.	nonsynonymous SNV	LAPTM4A:NM_014713:exon2:c.A209T:p.Y70F	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0229390609026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.03708	T	0.803	0.04029	T	0.217	0.30183	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.89	0.45636	T	0.09	0.05917	N	0.522	0.55193	-1.0544	0.13198	T	0.090	0.34683	T	10	0.27750722	0.45318	T	0.022939	0.45870	T	0.136	0.36778	0.544	0.65731	0.21174354426	0.20776	0.8556856731638316	0.85531	0.341241828603	0.36058	0.683604955673	0.64787	T	0.015465	0.12966	T	-0.0189404	0.49004	T	-0.264983	0.48326	T	0.699561178684235	0.40698	D	0.918608	0.70760	D	0.13796288	0.31925	0.078426465	0.17566	0.13796288	0.31925	0.078426465	0.17566	-4.683	0.33197	T	.	.	0.138	0.30130	B	.	.	2.971399	0.39609	21.0	0.93106503084569026	0.22737	0.63841	0.32216	D	ALL	0.950079	0.96335	D	0.0875075568991104	0.45882	2.837298	0.282191917985128	0.54500	3.614764	1.0	0.98316	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	5.99	5.99	0.97299	7.636000	0.82457	7.873000	0.72068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.235	0.65468	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	837.83	84	chr2	20040914	.	T	A	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.579;DP=258;ExcessHet=0;FS=4.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.962;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	5	0	1	0
chr2	20203917	20203917	G	C	exonic	SDC1	.	nonsynonymous SNV	SDC1:NM_002997:exon3:c.C523G:p.L175V,SDC1:NM_001006946:exon4:c.C523G:p.L175V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00520738785098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.507	0.10930	T	0.036	0.20732	B	0.039	0.23607	B	0.964668	0.08200	N	0.981979	1	0.08975	N	0	0.06538	N	2.3	0.30401	T	0.24	0.07882	N	0.054	0.02559	-0.9872	0.33298	T	0.046	0.19919	T	10	0.05969137	0.07214	T	0.005207	0.13279	T	0.006	0.00375	0.253	0.19223	0.458644561121	0.45486	0.07530770068259988	0.07466	0.283650765552	0.30797	0.237207591534	0.02544	T	0.260043	0.63138	T	-0.275051	0.11201	T	-0.632868	0.10198	T	0.0511413045270789	0.05699	T	0.379762	0.09155	T	0.06004949	0.12276	0.03213326	0.01904	0.06004949	0.12275	0.03213326	0.01903	-3.843	0.21448	T	.	.	0.068	0.16099	B	.;.;.	.;.;.	0.165397	0.05554	2.011	0.84660574864739757	0.15422	0.08645	0.14545	N	AEFDBHCI	0.277183	0.39175	N	-0.951603092477396	0.09657	0.4579847	-1.01194295143138	0.09522	0.4742112	0.99999375667365	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.65	0.792	0.17769	0.092000	0.14905	0.491000	0.18902	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.226:0.0:0.5706:0.2034	3.299	0.06566	673	0.60677	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	739.83	68	chr2	20203917	.	G	C	739.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.102;DP=282;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.192;SOR=0.34	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	5	0	1	0
chr2	20254908	20254908	T	C	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282790:exon17:c.A2588G:p.E863G,PUM2:NM_001282752:exon18:c.A2657G:p.E886G,PUM2:NM_001282791:exon18:c.A2420G:p.E807G,PUM2:NM_001352920:exon18:c.A2594G:p.E865G,PUM2:NM_001352923:exon18:c.A2594G:p.E865G,PUM2:NM_001352925:exon18:c.A2588G:p.E863G,PUM2:NM_001352926:exon18:c.A2588G:p.E863G,PUM2:NM_001352927:exon18:c.A2588G:p.E863G,PUM2:NM_001352928:exon18:c.A2588G:p.E863G,PUM2:NM_001352930:exon18:c.A2147G:p.E716G,PUM2:NM_001352917:exon19:c.A2831G:p.E944G,PUM2:NM_001352918:exon19:c.A2825G:p.E942G,PUM2:NM_001352919:exon19:c.A2825G:p.E942G,PUM2:NM_001352929:exon19:c.A2420G:p.E807G,PUM2:NM_015317:exon19:c.A2825G:p.E942G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0404059704605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.43085	D	0.095	0.39492	T	0.591	0.39100	P	0.709	0.54472	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.54	0.13916	T	-3.05	0.65858	D	0.818	0.81957	-1.0347	0.18951	T	0.107	0.39051	T	10	0.7452064	0.75239	D	0.040406	0.59359	D	0.514	0.79217	.	.	0.215239754934	0.21150	0.44491656446952477	0.44409	0.539815738993	0.51197	0.783618211746	0.79474	T	0.068061	0.33362	T	0.203126	0.74185	D	0.0539998	0.73847	D	0.899078547954559	0.55130	D	0.964104	0.86689	D	.	.	.	.	.	.	.	.	-7.678	0.58855	D	.	.	0.265	0.59291	B	.;.;.;.;.	.;.;.;.;.	5.322278	0.89330	29.9	0.99805489034406247	0.88995	0.98917	0.88597	D	AEFBI	0.900530	0.84617	D	0.585204153437368	0.72251	5.776356	0.548407254109362	0.71285	5.631802	0.999999975018709	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.017000	0.88732	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.0:0.0:0.0:1.0	15.837	0.78582	762	0.50290	.;Pumilio homology domain|Pumilio, RNA binding domain;.;Pumilio homology domain|Pumilio, RNA binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	744.83	33	chr2	20254908	.	T	C	744.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.029;SOR=0.691	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1219	5	0	1	0
chr2	21004433	21004433	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon28:c.C11923T:p.H3975Y	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0034242563813	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs72654421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.116	0.36497	T	.	.	.	.	.	.	0.086080	0.02405	N	1.727610	1	0.08975	N	.	.	.	2.28	0.17271	T	-1.35	0.33598	N	0.194	0.21319	-0.9893	0.32778	T	0.032	0.13592	T	10	0.14436275	0.27396	T	0.003424	0.07694	T	0.017	0.02790	0.373	0.38503	0.413761986042	0.40994	0.28437148984938426	0.28350	0.0464376371656	0.05045	0.217641845345	0.01178	T	.	.	.	-0.314087	0.07393	T	-0.688941	0.06450	T	0.0476017619227516	0.05072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09578	B	.	.	-0.373788	0.02312	0.245	0.54337055914361676	0.05117	0.14154	0.18252	N	AEFBHCI	0.361236	0.45092	N	-1.09992708687777	0.06645	0.3064818	-1.14231400982179	0.06907	0.3340723	0.923397858610384	0.26742	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.99	-2.18	0.06643	0.077000	0.14593	0.296000	0.16925	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1525:0.3949:0.1462:0.3064	2.547	0.04452	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	6161.83	36	chr2	21004433	.	G	A	6161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.319;DP=608;ExcessHet=0;FS=3.215;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.631;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr2	21015426	21015426	T	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.A3452T:p.D1151V	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0360778425126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001754	0.38106	N	0.185608	0.999983	0.54805	D	.	.	.	5.61	0.00817	T	-4.88	0.81350	D	0.57	0.59308	-0.9994	0.30087	T	0.011	0.04088	T	10	0.57473344	0.65516	D	0.036078	0.56759	D	0.173	0.43840	0.382	0.39970	0.711251163156	0.70872	0.7737126403196114	0.77321	0.216162367491	0.24139	0.489556789398	0.37376	T	.	.	.	0.0170405	0.53981	T	-0.213299	0.53378	T	0.993809521198273	0.84761	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.51245	B	.	.	4.479748	0.69888	25.4	0.99394329326700681	0.62474	0.90572	0.51859	D	AEFBHCI	0.656827	0.62868	D	0.661902922606318	0.77139	6.617975	0.643202539206934	0.78107	6.809898	0.999976091003429	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.49	5.49	0.81022	3.518000	0.53208	7.837000	0.70361	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0879:0.0:0.9121	9.245	0.36679	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2172.83	33	chr2	21015426	.	T	A	2172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.007;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.452;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	5	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	140.5	30	chr2	23864893	.	T	C	140.5	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.338;DP=175;ExcessHet=1.7609;FS=115.489;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.798;SOR=7.378	GT:AD:DP:GQ:PL	./.:11,0:11:0:0,0,104	2	0	3	1
chr2	24793336	24793336	C	G	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.G42C:p.K14N	.	432	1088	2	0	0	2	0.000918274	.	.	.	3190020	PTRHD1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00758062619207	.	.	3.332e-05	0	0	0	0	3.043e-05	0	0.0001	3.23e-05	5	154602	rs748060375	1.505e-05	1.505e-05	9.531e-06	2.063e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	6.623e-05	5.797e-05	6.568e-06	6.566e-06	1.284e-05	0	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.058	0.37750	T	0.03	0.54159	D	0.001	0.07471	B	0.002	0.06944	B	0.409945	0.13010	N	0.750110	1	0.81001	D	1.77	0.45869	L	2.49	0.14531	T	-0.37	0.13226	N	0.238	0.26837	-1.0581	0.12235	T	0.030	0.12717	T	10	0.0674265	0.09393	T	0.007581	0.20113	T	0.051	0.14325	0.348	0.34436	0.261217442401	0.25729	0.5974306196692842	0.59674	0.230462537152	0.25593	0.536817193031	0.43997	T	0.021433	0.16689	T	-0.454871	0.01057	T	-0.709639	0.05314	T	0.169879868626595	0.18572	T	0.441756	0.12241	T	0.118291266	0.27873	0.10739711	0.25854	0.118291266	0.27873	0.10739711	0.25853	-4.655	0.32855	T	.	.	0.173	0.37932	B	.	.	2.504285	0.32334	19.01	0.9834259558500813	0.40457	0.61718	0.31567	D	ALL	0.217161	0.34232	N	-0.302246405414139	0.29062	1.608399	-0.200242742471776	0.31528	1.78514	0.999999999999935	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	5.32	2.15	0.26590	0.311000	0.19129	1.139000	0.24389	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.898000	0.43474	0.1823:0.5179:0.1763:0.1235	2.432	0.04200	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1136.83	33	chr2	24793336	.	C	G	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.808;DP=278;ExcessHet=0;FS=3.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.802;SOR=1.06	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1198	5	0	1	0
chr2	24817672	24817672	G	T	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon6:c.G751T:p.V251L,CENPO:NM_001322101:exon7:c.G769T:p.V257L,CENPO:NM_024322:exon7:c.G769T:p.V257L	.	.	.	.	.	.	.	.	.	.	.	2272112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00405062445264	0.0003	.	9.063e-05	0	0	0	0	0.0002	0	0	0.0001229	19	154602	rs139463930	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0001	2.236e-05	0	0	0	0	0.0004	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.667e-05	7.258e-05	0.0001	8.876e-05	0.0002	0	0	0	0	0	0	0.0002	0	0	0.135	0.26192	T	0.254	0.23707	T	0.002	0.14655	B	0.001	0.08700	B	0.018009	0.01478	N	2.679320	1	0.08975	N	0.345	0.11182	N	0.97	0.42502	T	-0.4	0.13805	N	0.075	0.10626	-1.0553	0.12961	T	0.058	0.24167	T	10	0.031077474	0.01239	T	0.004051	0.09650	T	0.004	0.00165	0.292	0.25400	0.455816718377	0.45207	0.2069239218925654	0.20608	0.130950047819	0.14771	0.208900973201	0.00765	T	0.009446	0.08603	T	-0.501703	0.00559	T	-0.689138	0.06439	T	0.0189119629039701	0.00601	T	0.585341	0.21331	T	0.0997902	0.23555	0.042895116	0.05214	0.0997902	0.23555	0.042895116	0.05213	-3.582	0.17596	T	.	.	0.091	0.12985	B	.;.;.	.;.;.	-0.374778	0.02308	0.244	0.55024577374090311	0.05257	0.11863	0.16910	N	AEFGBCI	0.089806	0.18203	N	-1.59813503459398	0.01274	0.0554346	-1.63723021096063	0.01443	0.06527628	0.999820387835954	0.43622	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.27	-4.92	0.02848	-0.630000	0.05599	-0.107000	0.11873	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2755:0.2835:0.4409:0.0	6.632	0.22053	356	0.85138	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	672.83	34	chr2	24817672	.	G	T	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.467;DP=232;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.783;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	5	0	1	0
chr2	26455136	26455136	T	C	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon16:c.T2069C:p.V690A	Ciliary dyskinesia, primary, 21, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1607004	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.171	0.0127455410499	.	0.000798722	0.0005	0	8.651e-05	0	0	0	0.0011	0.0036	0.0004269	66	154602	rs199858918	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0	0	0	0.0003	3.597e-06	0.0004	0.0037	9.2e-05	9.188e-05	3.857e-05	0.0001	0.0027	5.528e-05	4.365e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.471e-05	0	0.0027	0.125	0.27310	T	0.009	0.66756	D	0.929	0.51690	P	0.58	0.50189	P	0.026714	0.25874	N	0.421507	0.999659	0.20771	N	2.31	0.66127	M	0.72	0.50976	T	-2.81	0.59389	D	0.366	0.40765	-0.8614	0.51162	T	0.175	0.51959	T	10	0.013923287	0.00294	T	0.012746	0.31594	T	0.171	0.43483	0.56	0.67958	0.473931330248	0.47021	0.431240123241945	0.43041	0.125253055564	0.14122	0.310807168484	0.12029	T	0.041613	0.25916	T	-0.455771	0.01044	T	-0.428616	0.30091	T	0.123614454757489	0.14779	T	0.684232	0.29249	T	0.21329229	0.43704	0.33200818	0.59053	0.24657609	0.47628	0.30632272	0.56656	-6.866	0.53048	T	.	.	0.356	0.56990	A	.	.	3.541427	0.49734	22.8	0.99693163245969918	0.80112	0.31045	0.24238	N	AEFGBI	0.154829	0.27992	N	0.105464623014662	0.46719	2.90788	0.0291606899581377	0.41076	2.461715	0.999999870367375	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.38	5.38	0.77279	4.559000	0.60505	6.113000	0.53689	0.665000	0.62972	0.501000	0.26963	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	14.383	0.66489	416	0.81733	Dynein regulatory complex protein 1, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1687.83	120	chr2	26455136	.	T	C	1687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=306;ExcessHet=0;FS=1.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.034;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr2	26465829	26465829	C	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon20:c.G2572A:p.E858K,OTOF:NM_004802:exon21:c.G2341A:p.E781K,OTOF:NM_194323:exon21:c.G2341A:p.E781K,OTOF:NM_001287489:exon38:c.G4642A:p.E1548K,OTOF:NM_194248:exon38:c.G4642A:p.E1548K	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	496274	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.481	0.0566737322848	0.0004	0.000599042	0.0004	0	0	0.0001	0	0.0002	0	0.0020	0.0003493	54	154602	rs146982209	0.0003	0.0003	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0	0.0001	0	2.519e-05	0	0.0009	0.0001	0.0003	0.0022	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0002	0	0.0023	0.027	0.50132	D	0.13	0.51421	T	0.039	0.41609	B	0.059	0.45959	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.56	0.15190	N	-0.57	0.71307	T	-2.98	0.62008	D	0.877	0.87481	-0.6612	0.62223	T	0.273	0.64432	T	10	0.030760765	0.01205	T	0.056674	0.66690	D	0.481	0.77142	.	.	0.872198448125	0.87094	0.6559919712665714	0.65535	0.392072762019	0.40400	0.798641860485	0.81756	T	0.456549	0.79527	T	-0.0282259	0.47674	T	0.180203	0.82007	D	0.169349556982405	0.18536	T	0.986501	0.95398	D	0.56345254	0.70700	0.3863191	0.63527	0.56345254	0.70701	0.3863191	0.63527	-11.779	0.85474	D	0.7689188339790662	0.85007	0.376	0.61536	A	.;.;.;.;.;.	.;.;.;.;.;.	4.300261	0.65647	24.9	0.99750069166673672	0.84152	0.96994	0.72079	D	AEFDBI	0.781001	0.71272	D	-0.00839514124951066	0.41476	2.48143	0.121764245646468	0.45664	2.825592	0.999999989341186	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	5.052000	0.64081	3.331000	0.37627	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.0:0.8595:0.1405:0.0	15.364	0.74218	417	0.81662	.;.;C2 domain|C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1908.83	36	chr2	26465829	.	C	T	1908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.32;DP=322;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.643;SOR=0.623	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1344	5	0	1	0
chr2	26477826	26477826	A	C	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon1:c.T68G:p.I23S	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	57354	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0158535464936	0.0039	0.00199681	0.0045	0.0011	0.0062	0	0.0008	0.0073	0.0038	0.0008	0.0036222	560	154602	rs76130130	0.0054	0.0053	0.0055	0.0052	0.0060	0.0053	0.0052	0.0059	0.0059	0.0009	0.0054	0.0156	0	0.0003	0.0047	0.0060	0.0052	0.0008	0.0034	0.0034	0.0036	0.0032	0.0049	0.0032	0.0031	0.0044	0.0043	0.0012	0	0.0035	0.0159	0	0.0006	0.0102	0.0049	0.0081	0.0006	.	.	.	.	.	.	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9881	0.33077	T	0.147	0.47237	T	7	0.004008025	0.00077	T	0.015854	0.36807	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.397047	0.02421	T	-0.339381	0.40414	T	0.0601066224668528	0.07185	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	-2.104	0.03601	T	.	.	0.116	0.23290	B	.	.	-0.009762	0.04217	1.032	0.94350857168412938	0.24700	0.01430	0.04814	N	AEFDGBI	.	.	.	-1.13911661019701	0.05961	0.2731642	-1.27474123502912	0.04774	0.2260218	0.999998944519784	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.6	-4.45	0.03298	-0.168000	0.09914	-0.301000	0.10115	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.2124:0.5562:0.2314:0.0	6.536	0.21552	423	0.81269	.	.	.	.	.	.	Likely benign	0	0	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	0.008065	0.000000	0.006812	0.000000	0.000000	0.017241	0.018293	0.011364	0.1667	2902.04	36	chr2	26477826	.	A	C	2902.04	.	AC=2;AF=0.167;AN=12;DP=355;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.23;SOR=1.313	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1449	5	1	0	0
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014675	0.010989	0.011142	0.029762	0.000000	0.046296	0.009677	0.007812	0.08333	553.83	39	chr2	27212400	.	C	T	553.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=199;ExcessHet=0;FS=4.506;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.7;SOR=1.102	GT:AD:DP:GQ:PL	0/0:28,0:28:78:0,78,1170	5	0	1	0
chr2	27224375	27224375	C	A	exonic	CAD	.	nonsynonymous SNV	CAD:NM_001306079:exon9:c.C1139A:p.P380H,CAD:NM_004341:exon9:c.C1139A:p.P380H	Epileptic encephalopathy, early infantile, 50, Autosomal recessive	419	1095	8	0	0	8	0.00363967	.	.	.	697514	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0849941541355	0.0007	0.000998403	0.0011	0.0002	0.0003	0.0002	0.0002	0.0009	0	0.0041	0.0010026	155	154602	rs146282777	0.0012	0.0012	0.0011	0.0013	0.0033	0.0012	0.0011	0.0030	0.0029	8.961e-05	0.0006	0	0	0.0001	0.0012	0.0012	0.0010	0.0033	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0008	0	0.0002	9.411e-05	0	0.0011	0	0.0025	0.536	0.06891	T	0.525	0.10281	T	0.026	0.54666	B	0.03	0.66722	B	0.440703	0.12631	N	0.770682	0.999201	0.22933	N	0	0.06538	N	-4.84	0.98229	D	0.44	0.03243	N	0.229	0.30461	0.365	0.88562	D	0.861	0.95379	D	10	0.0054017305	0.00119	T	0.084994	0.74440	D	0.301	0.62179	.	.	0.690192462999	0.68753	0.37344835213460537	0.37258	0.409586850137	0.41769	0.33887091279	0.16269	T	0.063565	0.32209	T	-0.207817	0.19689	T	-0.121732	0.61661	T	0.0556262940370603	0.06461	T	0.675632	0.28413	T	0.046487126	0.07787	0.042128153	0.04945	0.047580447	0.08154	0.036547616	0.03125	-4.611	0.32310	T	0.1957218579205504	0.25830	0.091	0.20819	B	.;.	.;.	1.027580	0.14072	10.65	0.83613025045060652	0.14822	0.50091	0.28583	D	AEFBI	0.112082	0.22167	N	-0.351943593055048	0.27201	1.490478	-0.297090356241864	0.28194	1.57004	0.994788638627154	0.33799	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	3.21	0.35933	2.214000	0.42493	1.444000	0.26551	0.549000	0.26987	0.023000	0.19925	0.842000	0.27309	0.121000	0.19209	0.1586:0.5006:0.1547:0.1861	1.888	0.03045	255	0.89985	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	2286.83	34	chr2	27224375	.	C	A	2286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.561;DP=325;ExcessHet=0;FS=0.621;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.05;SOR=0.786	GT:AD:DP:GQ:PL	0/1:62,87:149:99:2297,0,1438	5	0	1	0
chr2	27378156	27378156	A	G	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon3:c.T829C:p.C277R,ZNF513:NM_144631:exon4:c.T1015C:p.C339R	.	0	1519	3	0	0	3	0.000986518	.	.	.	15067	not_provided|Retinitis_pigmentosa_58	MedGen:C3661900|MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.456	0.00885542625113	.	0.000199681	0.0002	0	0	0	0	3.026e-05	0	0.0016	0.000194	30	154602	rs267607182	0.0001	0.0001	7.763e-05	0.0001	0.0011	9.539e-05	9.02e-05	0.0010	0.0009	0	0	0	0	0	0	5.306e-05	3.313e-05	0.0011	6.569e-05	6.563e-05	3.856e-05	9.407e-05	0.0006	3.516e-05	2.616e-05	0.0002	9.011e-05	2.407e-05	0	0.0001	0	0	0	0	5.882e-05	0	0.0006	0.002	0.72154	D	0.036	0.52060	D	0.998	0.73220	D	0.99	0.78936	D	0.000026	0.55875	D	0.000000	0.999978	0.53665	D	1.935	0.51832	L	3.27	0.07024	T	-4.35	0.77143	D	0.881	0.87917	-1.1707	0.00526	T	0.045	0.19152	T	10	0.26555294	0.44052	T	0.008855	0.23342	T	0.456	0.75483	0.465	0.53566	0.588054354842	0.58480	0.9055128563210412	0.90524	0.754250314739	0.63932	0.824181556702	0.85669	D	0.194869	0.55078	T	-0.108768	0.34972	T	0.0304533	0.72306	D	0.32297828533731	0.25942	T	0.675932	0.28448	T	0.84334934	0.86848	0.78957826	0.87619	0.8293228	0.85857	0.7804255	0.87056	-11.071	0.80046	D	.	.	0.959	0.87935	P	.;.	.;.	4.366564	0.67198	25.1	0.99272101969728277	0.57593	0.94664	0.61908	D	AEFDGBHCI	0.767518	0.70336	D	0.62580063200783	0.74810	6.196529	0.626077132717073	0.76840	6.565644	0.999999999764369	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.99	4.99	0.65942	3.351000	0.51947	11.154000	0.87438	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8288:0.1711:0.0:0.0	9.913	0.40586	334	0.86273	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1793.83	35	chr2	27378156	.	A	G	1793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.162;DP=323;ExcessHet=0;FS=1.347;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.62;SOR=0.874	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1804,0,2029	5	0	1	0
chr2	27378976	27378976	G	A	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon2:c.C104T:p.A35V,ZNF513:NM_144631:exon3:c.C290T:p.A97V	.	0	1519	3	0	0	3	0.000986518	.	.	.	193737	not_provided|Retinitis_pigmentosa	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	.	.	.	.	.	.	.	.	0.072	.	0.0012	0.000599042	0.0018	0.0011	8.932e-05	0	0.0030	0.0019	0.0133	0.0025	0.0016494	255	154602	rs35554630	0.0018	0.0018	0.0017	0.0019	0.0025	0.0017	0.0017	0.0023	0.0021	0.0005	0.0003	0.0010	0	0.0030	0.0010	0.0019	0.0015	0.0025	0.0017	0.0017	0.0016	0.0017	0.0026	0.0015	0.0014	0.0022	0.0021	0.0008	0	0.0004	0.0020	0	0.0017	0	0.0026	0.0009	0.0025	0.773	0.08736	T	1.0	0.01155	T	0.954	0.54400	P	0.165	0.35019	B	0.000227	0.47286	D	0.000000	0.92495	0.27203	N	0.695	0.17993	N	3.35	0.54540	T	0.12	0.13611	N	0.249	0.34012	-1.0632	0.10974	T	0.067	0.27674	T	10	0.00825718	0.00187	T	.	.	.	0.072	0.21020	.	.	0.44480088601	0.44098	0.13193566789641087	0.13118	0.271006728325	0.29621	0.683616936207	0.64789	T	0.011922	0.10567	T	-0.419231	0.01730	T	-0.378651	0.35880	T	0.0214756073631817	0.00851	T	0.641436	0.27420	T	0.06235588	0.13014	0.059310336	0.11111	0.061114833	0.12617	0.059797067	0.11283	-3.76	0.24355	T	.	.	0.128	0.36811	B	.;.;.	.;.;.	2.723595	0.35633	19.95	0.97320905295614135	0.33375	0.75608	0.37028	D	AEFDBCI	0.087934	0.17828	N	-0.096154067479943	0.37560	2.187015	-0.018632513520922	0.38873	2.296604	0.999999862799367	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.48	3.59	0.40253	2.548000	0.45455	7.508000	0.59580	-0.186000	0.09761	0.945000	0.32849	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.8328:0.1672	12.606	0.55879	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	841.83	49	chr2	27378976	.	G	A	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=241;ExcessHet=0;FS=2.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.493;SOR=1.115	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr2	27378988	27378988	C	T	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon2:c.G92A:p.R31Q,ZNF513:NM_144631:exon3:c.G278A:p.R93Q	.	1	1520	1	0	0	1	0.000328839	.	.	.	826179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0052233319558	.	.	8.841e-06	0	0	0	0	0	0	6.161e-05	6.5e-06	1	154602	rs746787789	5.203e-05	5.267e-05	5.313e-05	5.092e-05	0.0003	4.261e-05	3.891e-05	6.107e-05	3.837e-05	0	6.712e-05	0	2.519e-05	0	0.0003	5.396e-05	0.0001	1.16e-05	3.287e-05	3.283e-05	3.855e-05	2.692e-05	6.542e-05	1.261e-05	7.98e-06	8.01e-06	3e-06	4.831e-05	0	6.542e-05	0	0	0	0	2.941e-05	0	0	0.208	0.19782	T	0.325	0.18846	T	0.034	0.20480	B	0.002	0.06944	B	0.000547	0.43413	D	0.000000	0.977518	0.27412	N	1.04	0.26193	L	3.31	0.57261	T	0.12	0.11728	N	0.222	0.28264	-1.0107	0.26698	T	0.085	0.33157	T	10	0.11656731	0.21993	T	0.005223	0.13310	T	0.067	0.19503	0.402	0.43245	0.326837869879	0.32287	0.2878293002058797	0.28695	0.440906568431	0.44089	0.576672434807	0.49616	T	0.010916	0.10480	T	-0.203063	0.20362	T	-0.353615	0.38790	T	0.0996546298265457	0.12319	T	0.783822	0.47089	T	0.12597741	0.29519	0.08680787	0.20137	0.12597741	0.29518	0.08680787	0.20136	-4.543	0.34345	T	.	.	0.096	0.28174	B	.;.;.	.;.;.	3.058908	0.41073	21.3	0.98613274313653232	0.43664	0.88783	0.48878	D	AEFDBCI	0.190476	0.31770	N	-0.489626434047236	0.22421	1.197038	-0.306217017754397	0.27897	1.551339	0.9999998382826	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.48	3.6	0.40374	0.584000	0.23565	2.723000	0.34327	0.524000	0.24156	0.991000	0.37257	1.000000	0.68203	0.997000	0.79791	0.0:0.9106:0.0:0.0894	11.289	0.48474	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	741.83	38	chr2	27378988	.	C	T	741.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.338;SOR=0.562	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.08333	1606.83	34	chr2	27470935	.	G	C	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.242;DP=301;ExcessHet=0;FS=7.38;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.298;SOR=0.287	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	5	0	1	0
chr2	27580222	27580222	T	C	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.T3650C:p.L1217S	.	427	1088	7	0	0	7	0.0032066	.	.	.	2815633	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0043	0.00139776	0.0058	0.0013	0.0027	0.0001	0.0045	0.0078	0.0167	0.0055	0.0055627	860	154602	rs115888025	0.0060	0.0060	0.0059	0.0060	0.0068	0.0059	0.0058	0.0064	0.0062	0.0008	0.0025	0.0101	5.038e-05	0.0054	0.0035	0.0064	0.0055	0.0068	0.0050	0.0050	0.0053	0.0047	0.0067	0.0047	0.0046	0.0062	0.0060	0.0014	0.0965	0.0025	0.0121	0.0002	0.0040	0	0.0067	0.0052	0.0052	0.001	0.78490	D	0.025	0.56192	D	0.123	0.26785	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.17	0.07599	T	-1.03	0.27052	N	0.164	0.17278	-0.9641	0.38389	T	0.009	0.03315	T	9	0.003681302	0.00068	T	.	.	.	0.041	0.10877	.	.	0.0551355673512	0.04727	0.05079581017928978	0.05021	0.145586892595	0.16448	.	.	.	9.02E-4	0.00463	T	-0.623835	0.00104	T	-0.66091	0.08205	T	0.0479506074678675	0.05135	T	0.413759	0.12390	T	0.15029188	0.34221	0.23484066	0.48712	0.15029188	0.34220	0.23484066	0.48711	-2.26	0.04341	T	.	.	0.236	0.51891	B	.;.	.;.	3.187307	0.43288	21.7	0.99514822172698147	0.68858	0.49263	0.28393	N	AEFBI	0.264347	0.38171	N	-0.59766899060266	0.19015	0.9919093	-0.512336089678805	0.21817	1.182092	0.999976976046379	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.19	4.02	0.45968	3.411000	0.52425	2.682000	0.34024	0.502000	0.22824	0.907000	0.31601	0.975000	0.29991	0.133000	0.19684	0.0:0.0958:0.0:0.9042	7.866	0.28698	67	0.97183	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1531.83	110	chr2	27580222	.	T	C	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.919;DP=362;ExcessHet=0;FS=6.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.656;SOR=1.135	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	5	0	1	0
chr2	27581843	27581843	C	A	exonic	C2orf16	.	nonsynonymous SNV	C2orf16:NM_032266:exon1:c.C5271A:p.S1757R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00379393	0.0001	0.0001	0	0	0	0	0.0011	0.0008	0.0002199	34	154602	rs200432284	7.129e-05	7.184e-05	3.819e-05	0.0001	0.0011	5.992e-05	5.599e-05	0.0009	0.0009	0	2.258e-05	0	0	0	0	3.6e-06	3.325e-05	0.0011	0.0002	0.0003	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0.0005	0	6.637e-05	0	0	0	0	0	0	0.0015	0.293	0.14843	T	0.261	0.22962	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.975	0.53506	M	3.52	0.04905	T	-0.75	0.21003	N	0.05	0.02179	-0.9255	0.44786	T	0.009	0.03183	T	9	0.003379345	0.00059	T	.	.	.	0.008	0.00669	0.256	0.19689	0.0138822411134	0.00435	0.024761242624337224	0.02427	0.163342814031	0.18427	.	.	.	0.004791	0.04206	T	-0.714375	0.00030	T	-0.849368	0.00967	T	0.03624361620061	0.03023	T	0.129787	0.01020	T	0.06474366	0.13768	0.06405327	0.12782	0.06474366	0.13767	0.06405327	0.12781	-4.651	0.32806	T	.	.	0.162	0.38409	B	.;.	.;.	-1.559491	0.00261	0.004	0.41521050594297432	0.03001	0.07728	0.13729	N	AEFBCI	0.111294	0.22039	N	-1.86074485737722	0.00413	0.01774903	-1.87571754101695	0.00546	0.02422554	0.999727183108158	0.42220	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	3.75	-1.85	0.07363	-4.783000	0.00216	-20.000000	0.00162	-6.894000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4572:0.4659:0.0:0.0769	8.942	0.34898	65	0.97253	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3148.83	236	chr2	27581843	.	C	A	3148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.9;DP=425;ExcessHet=0;FS=5.215;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-0.983;QD=13.34;ReadPosRankSum=-0.021;SOR=0.559	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1397	5	0	1	0
chr2	29071387	29071387	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2875A:p.A959T	.	0	1477	45	0	0	45	0.015005	.	.	.	190306	not_provided|Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_54	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0021	0.00199681	0.0037	0.0003	0.0017	0	0.0002	0.0033	0.0101	0.0114	0.0032082	496	154602	rs192350796	0.0022	0.0022	0.0018	0.0026	0.0149	0.0021	0.0021	0.0124	0.0114	0.0002	0.0016	0.0419	7.557e-05	1.884e-05	0.0149	0.0006	0.0049	0.0113	0.0017	0.0017	0.0019	0.0016	0.0112	0.0016	0.0015	0.0088	0.0079	0.0002	0	0.0009	0.0354	0	0	0.0034	0.0008	0.0024	0.0112	0.21	0.19639	T	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.059117	0.22349	N	0.470567	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.35	0.12847	N	0.025	0.00485	-1.0499	0.14425	T	0.027	0.11663	T	10	0.0031301677	0.00052	T	.	.	.	0.032	0.07718	.	.	0.0762999501168	0.06990	0.20868877635627958	0.20784	0.0131637018963	0.01267	.	.	.	0.00331	0.02718	T	-0.736029	0.00022	T	-0.819643	0.01459	T	0.00118835454009417	0.00012	T	0.372463	0.08834	T	0.034804296	0.03976	0.04977026	0.07674	0.034804296	0.03976	0.04977026	0.07674	-3.255	0.13164	T	.	.	0.075	0.05491	B	.	.	-0.016922	0.04166	1.003	0.91811588158027524	0.21119	0.28666	0.23616	N	AEFDBI	0.062690	0.12068	N	-1.30519563939344	0.03616	0.1617998	-1.29433697293488	0.04506	0.2127163	0.101484047320148	0.16380	0.497415	0.19182	0	0.573078	0.20572	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.41	-1.3	0.08777	0.679000	0.24971	-0.134000	0.11587	-1.285000	0.01264	0.192000	0.24212	0.000000	0.08366	0.017000	0.10941	0.062:0.325:0.3825:0.2304	5.796	0.17653	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.012195	0.015152	0.08333	1756.83	33	chr2	29071387	.	C	T	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=347;ExcessHet=0;FS=5.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.326;SOR=0.946	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1767,0,1176	5	0	1	0
chr2	29071662	29071662	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C2600T:p.P867L	.	0	1485	36	1	0	38	0.012633	.	.	.	177344	PCARE-related_disorder|not_provided|not_specified|Retinitis_pigmentosa_54|Retinitis_pigmentosa	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|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	.	.	.	.	.	.	.	.	0.029	0.0036451874102	0.0018	0.000998403	0.0015	0.0004	0.0017	0	0.0017	0.0021	0.0034	0.0005	0.0015071	233	154602	rs182248363	0.0022	0.0022	0.0021	0.0022	0.0215	0.0021	0.0021	0.0184	0.0173	0.0007	0.0031	0.0030	0	0.0021	0.0215	0.0022	0.0034	0.0009	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0017	0.0044	0.0041	0.0005	0	0.0054	0.0032	0	0.0013	0.0272	0.0021	0.0033	0.0008	1.0	0.00964	T	0.425	0.13912	T	0.004	0.12183	B	0.001	0.04355	B	0.392844	0.13231	N	0.685825	1	0.08975	N	.	.	.	2.61	0.13095	T	3.05	0.00134	N	0.097	0.07811	-0.9297	0.44183	T	0.010	0.03492	T	10	0.003376186	0.00059	T	0.003645	0.08371	T	0.029	0.06676	.	.	0.0716867268079	0.06686	0.04218015526180348	0.04163	0.0132068873467	0.01271	.	.	.	0.005117	0.04559	T	-0.733535	0.00023	T	-0.83044	0.01254	T	0.00110661854475679	0.00011	T	0.493751	0.15260	T	0.015144684	0.00124	0.027302949	0.00874	0.015144684	0.00124	0.027302949	0.00874	-3.959	0.23188	T	.	.	0.064	0.01645	B	.	.	-0.137698	0.03423	0.624	0.33965375538205167	0.02052	0.01676	0.05356	N	AEFDBI	0.034659	0.04332	N	-1.40349762555176	0.02608	0.1153987	-1.34441941115392	0.03872	0.1815065	0.0925815948388823	0.16162	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	-0.756	0.10500	1.406000	0.34254	-1.083000	0.06383	-0.169000	0.11342	0.027000	0.20232	0.000000	0.08366	0.002000	0.04165	0.3388:0.0:0.1847:0.4764	4.835	0.12825	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.020202	0.019022	0.043860	0.050000	0.043103	0.003049	0.007576	0.08333	3386.83	33	chr2	29071662	.	G	A	3386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=431;ExcessHet=0;FS=1.747;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.339;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1381	5	0	1	0
chr2	30640550	30640550	G	C	exonic	LCLAT1	.	nonsynonymous SNV	LCLAT1:NM_001002257:exon6:c.G1062C:p.E354D,LCLAT1:NM_001304446:exon6:c.G690C:p.E230D,LCLAT1:NM_182551:exon7:c.G1176C:p.E392D,LCLAT1:NM_001304445:exon8:c.G1062C:p.E354D	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	.	0.00239617	0.0016	0	8.639e-05	0	0	0	0	0.0115	0.0013777	213	154602	rs573828049	0.0007	0.0007	0.0004	0.0011	0.0111	0.0007	0.0007	0.0106	0.0103	2.988e-05	0	0	2.519e-05	0	0.0010	3.597e-06	0.0010	0.0111	0.0004	0.0004	0.0003	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	4.812e-05	0	0	0	0.0002	0	0	0	0.0005	0.0118	0.282	0.15930	T	0.271	0.24694	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.996137	0.43035	D	2.095	0.58118	M	1.42	0.34253	T	-0.66	0.19085	N	0.674	0.69213	-1.0722	0.08936	T	0.116	0.41031	T	10	0.00910002	0.00206	T	.	.	.	0.222	0.51872	0.683	0.82078	0.404733080969	0.40085	0.7484640683276866	0.74792	0.274608653467	0.29952	0.522070407867	0.41917	T	0.104517	0.41415	T	-0.340606	0.05346	T	-0.251646	0.49654	T	0.079222617403201	0.09886	T	0.886711	0.61387	D	0.11356265	0.26820	0.10392434	0.24946	0.11356265	0.26819	0.10392434	0.24945	-6.258	0.48397	T	.	.	0.637	0.76371	P	.;.	.;.	1.601311	0.20470	14.76	0.97900695834799778	0.36738	0.93512	0.58419	D	AEFBI	0.410489	0.48134	N	-0.214725593792885	0.32528	1.835476	-0.307297233966661	0.27862	1.549126	0.0568654171828081	0.15071	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	-0.231	0.12441	1.502000	0.35312	2.412000	0.32646	-0.244000	0.07312	1.000000	0.71638	0.998000	0.33993	0.311000	0.24761	0.6027:0.0:0.3973:0.0	11.014	0.46896	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1587.83	107	chr2	30640550	.	G	C	1587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-1.523;SOR=0.697	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.08333	1448.83	33	chr2	30787266	.	G	T	1448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.007;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.361;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1205	5	0	1	0
chr2	31398641	31398641	A	G	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon5:c.T365C:p.M122T	Xanthinuria, type I, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660	0.0506933330513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.21	0.89262	M	0.62	0.53302	T	-5.46	0.85541	D	0.962	0.97207	-0.1374	0.79228	T	0.379	0.73602	T	10	0.93081456	0.92421	D	0.050693	0.64350	D	0.660	0.87283	0.744	0.87570	0.855870461239	0.85448	0.9350174078269547	0.93481	0.288029902863	0.31207	0.8215482831	0.85265	D	0.521098	0.83254	D	0.328519	0.85063	D	0.234119	0.84867	D	0.998457670211792	0.94196	D	0.961604	0.85550	D	0.9147958	0.92747	0.9313203	0.97185	0.9147958	0.92748	0.9313203	0.97186	-10.42	0.76386	D	.	.	0.951	0.87039	P	.	.	4.612040	0.73149	25.9	0.99322860155422898	0.59469	0.97947	0.78343	D	AEFBI	0.927047	0.90910	D	0.891778552506652	0.91351	10.83976	0.824750289173257	0.91460	10.89744	0.999999999996843	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	9.267000	0.94815	11.035000	0.85107	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.789	0.78103	914	0.21048	[2Fe-2S]-binding|Xanthine dehydrogenase, small subunit	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1408.83	37	chr2	31398641	.	A	G	1408.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.848;DP=282;ExcessHet=0;FS=4.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-2.717;SOR=0.361	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1303	5	0	1	0
chr2	32501840	32501840	G	C	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon47:c.G9156C:p.M3052I,BIRC6:NM_016252:exon47:c.G9159C:p.M3053I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0210305003438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.032	0.53426	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.77	0.73523	T	-0.4	0.13805	N	0.898	0.89800	-0.3379	0.73904	T	0.438	0.77708	T	10	0.7588762	0.76191	D	0.021031	0.43733	T	0.398	0.71242	0.329	0.31357	0.918159571555	0.91733	0.7158487916178908	0.71527	0.339876716782	0.35937	0.842360556126	0.88455	D	.	.	.	0.32816	0.85040	D	0.233603	0.84844	D	0.631927150398555	0.37698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.80489	P	.	.	3.468048	0.48368	22.6	0.98229331509069617	0.39378	0.99469	0.96414	D	AEFBI	0.874638	0.79762	D	0.632884932769878	0.75266	6.275577	0.698792109254462	0.82284	7.729767	0.999999999910216	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	10.003000	0.99689	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.527	0.95205	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	516.83	25	chr2	32501840	.	G	C	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.57;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.499;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	5	0	1	0
chr2	32599758	32599758	C	T	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon70:c.C13847T:p.A4616V,BIRC6:NM_016252:exon70:c.C13850T:p.A4617V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0323868066679	.	.	0.0001	9.61e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs777498615	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.976e-05	4.472e-05	0.0007	0	0	0.0002	0.0001	0.0001	0	9.202e-05	9.194e-05	0.0001	5.382e-05	0.0002	5.529e-05	4.366e-05	9.048e-05	7.012e-05	4.828e-05	0	0	0.0003	0	0	0	0.0002	0	0	0.003	0.68238	D	0.012	0.63918	D	.	.	.	.	.	.	0.000025	0.55875	D	0.155676	1	0.81001	D	.	.	.	-0.65	0.72237	T	-3.38	0.66780	D	0.485	0.51940	-0.5640	0.66251	T	0.236	0.60331	T	10	0.23583663	0.40653	T	0.032387	0.54227	D	0.251	0.56024	.	.	0.430467906565	0.42668	0.610312857797296	0.60963	1.66732728898	0.89815	0.812585830688	0.83888	D	.	.	.	-0.140596	0.29794	T	-0.170433	0.57404	T	0.351965039968491	0.27096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.49635	B	.	.	3.644497	0.51696	23.1	0.99752383173752324	0.84382	0.96355	0.68733	D	AEFBI	0.628799	0.61075	D	0.265223550641137	0.54397	3.605255	0.317602614708375	0.56575	3.820892	0.999924732283311	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	4.64	0.57399	4.672000	0.61290	4.800000	0.44962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1387:0.8613:0.0:0.0	15.595	0.76314	193	0.92507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1064.83	37	chr2	32599758	.	C	T	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.013;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.007;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	5	0	1	0
chr2	32820870	32820870	A	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon20:c.A2314G:p.I772V,TTC27:NM_017735:exon20:c.A2464G:p.I822V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0048702711384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs907617872	5.025e-06	5.473e-06	2.833e-06	7.278e-06	2.555e-05	2.09e-06	1.34e-06	4.24e-06	1.59e-06	0	0	0	0	0	0	2.792e-06	3.469e-05	2.555e-05	1.314e-05	1.313e-05	0	2.689e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.696	0.04226	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.237566	0.15783	N	0.644413	1	0.08975	N	-0.555	0.02337	N	0.41	0.57100	T	0.22	0.04694	N	0.07	0.04307	-1.0253	0.21985	T	0.043	0.18368	T	10	0.04165733	0.02841	T	0.00487	0.12224	T	0.042	0.11227	0.351	0.34922	0.287603790349	0.28378	0.06873827000498209	0.06811	0.0358619067927	0.03783	0.311696350574	0.12163	T	0.06547	0.32696	T	-0.392491	0.02592	T	-0.673784	0.07368	T	0.0161702943356739	0.00392	T	0.568943	0.20238	T	0.017560966	0.00283	0.023974497	0.00412	0.017560966	0.00283	0.023974497	0.00412	-3.747	0.20015	T	.	.	0.060	0.00904	B	.	.	-0.080119	0.03761	0.784	0.65438051038591916	0.07772	0.02488	0.06964	N	AEFBHI	0.031463	0.03370	N	-1.23187684563576	0.04544	0.2053041	-1.18790537786683	0.06111	0.2931584	0.974136940653799	0.29516	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.99	-1.61	0.07951	0.107000	0.15212	0.233000	0.16214	-0.109000	0.15193	0.002000	0.15269	0.000000	0.08366	0.761000	0.36181	0.4704:0.1669:0.3627:0.0	4.932	0.13271	211	0.91797	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	436.83	38	chr2	32820870	.	A	G	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.354;DP=260;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=-1.127;SOR=0.945	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166264:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166265:exon15:c.G1952A:p.R651Q,LTBP1:NM_001166266:exon15:c.G1952A:p.R651Q,LTBP1:NM_206943:exon19:c.G3089A:p.R1030Q	.	428	1036	52	6	0	64	0.0299625	.	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.015306	0.008152	0.005848	0.000000	0.008621	0.024390	0.015152	0.08333	521.83	33	chr2	33280135	.	G	A	521.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=232;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.18;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1040	5	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S,RASGRP3:NM_001139488:exon10:c.G844A:p.G282S,RASGRP3:NM_001349976:exon10:c.G844A:p.G282S,RASGRP3:NM_001349979:exon10:c.G844A:p.G282S,RASGRP3:NM_001349981:exon10:c.G844A:p.G282S,RASGRP3:NM_001349977:exon11:c.G844A:p.G282S,RASGRP3:NM_001349978:exon11:c.G844A:p.G282S,RASGRP3:NM_001349980:exon11:c.G844A:p.G282S,RASGRP3:NM_170672:exon11:c.G844A:p.G282S,RASGRP3:NM_001349975:exon12:c.G844A:p.G282S	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.006793	0.002924	0.000000	0.000000	0.015244	0.034091	0.08333	1077.83	34	chr2	33527173	.	G	A	1077.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.75;DP=254;ExcessHet=0;FS=2.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.953;SOR=1.001	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	5	0	1	0
chr2	33585568	33585568	C	T	exonic	FAM98A	.	nonsynonymous SNV	FAM98A:NM_001304538:exon6:c.G265A:p.G89S,FAM98A:NM_015475:exon7:c.G850A:p.G284S	.	438	1083	1	0	0	1	0.000461467	.	.	.	2248205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0603871614955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341230632	4.788e-06	5.472e-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	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.34095	T	0.039	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-2.2	0.49519	N	0.646	0.65758	-0.6046	0.64627	T	0.293	0.66441	T	10	0.6062636	0.67192	D	0.060387	0.67983	D	0.316	0.63799	.	.	0.21174354426	0.20776	0.5880683130342318	0.58736	0.487873399504	0.47601	0.675837039948	0.63673	T	.	.	.	-0.00519172	0.50936	T	-0.245234	0.50286	T	0.902391314506531	0.55535	D	0.974303	0.95630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.75899	P	.;.	.;.	4.601347	0.72877	25.9	0.99709583962975845	0.81213	0.99681	0.98618	D	AEFBI	0.928491	0.91279	D	0.735468011974006	0.81958	7.645274	0.726593197946371	0.84395	8.280749	0.999999999999888	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.751000	0.84010	5.938000	0.51432	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.459	0.94901	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	885.83	78	chr2	33585568	.	C	T	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=251;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.815;SOR=0.973	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1320	5	0	1	0
chr2	36590947	36590947	T	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon2:c.A331G:p.T111A,FEZ2:NM_005102:exon2:c.A331G:p.T111A	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.010509188015	0.0004	0.000798722	0.0006	0.0001	0.0005	0	0	0.0009	0.0011	0.0005	0.0005563	86	154602	rs35730082	0.0004	0.0004	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	8.965e-05	0.0004	0.0059	0	1.873e-05	0.0014	0.0003	0.0008	0.0005	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0008	0.0007	9.616e-05	0	0.0012	0.0060	0	0	0	0.0004	0	0.0004	0.55	0.08634	T	0.561	0.09425	T	0.025	0.19245	B	0.027	0.21085	B	0.000000	0.84330	D	0.045834	0.99995	0.81001	D	0.975	0.24501	L	1.54	0.30133	T	-0.31	0.17210	N	0.462	0.49874	-1.0736	0.08639	T	0.031	0.13504	T	10	0.010371029	0.00231	T	0.010509	0.27131	T	0.107	0.30369	.	.	0.358948522604	0.35510	0.3986791732631069	0.39782	0.0107736174043	0.00996	0.570650577545	0.48770	T	0.027897	0.20327	T	-0.416196	0.01810	T	-0.46802	0.25730	T	0.0277495847216039	0.01652	T	0.876412	0.59716	D	0.06638129	0.14278	0.050992623	0.08118	0.06638129	0.14278	0.050992623	0.08117	-4.191	0.27612	T	.	.	0.108	0.31228	B	.;.;.	.;.;.	3.072811	0.41311	21.3	0.97237376250993035	0.32978	0.92089	0.54920	D	AEFDBI	0.285882	0.39840	N	-0.381948378406331	0.26112	1.422629	-0.221632877063302	0.30762	1.734867	0.999998345303893	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.057000	0.57168	7.867000	0.71756	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0832:0.0:0.9168	8.879	0.34524	881	0.29269	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	1406.83	33	chr2	36590947	.	T	C	1406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.381;DP=300;ExcessHet=0;FS=4.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.227;SOR=0.561	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	5	0	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1411	106	5	0	116	0.0394826	.	.	.	79359	not_provided|Irido-corneo-trabecular_dysgenesis|Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|Glaucoma_3A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	Likely benign	0	0	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	0.018182	0.005102	0.008152	0.017544	0.050000	0.008621	0.024540	0.049242	0.08333	1829.83	33	chr2	38074704	.	C	T	1829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=333;ExcessHet=0;FS=5.14;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.41;SOR=0.765	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1113	5	0	1	0
chr2	38681325	38681325	C	T	exonic	GALM	.	nonsynonymous SNV	GALM:NM_138801:exon3:c.C391T:p.R131C	.	428	1090	4	0	0	4	0.0018315	.	.	.	1450545	not_provided|GALM-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0258955724401	0.0004	.	0.0004	0.0002	0.0003	0	0.0002	0.0005	0	0.0008	0.0003493	54	154602	rs200877275	0.0003	0.0003	0.0003	0.0004	0.0036	0.0003	0.0003	0.0024	0.0020	2.988e-05	0.0002	0.0002	2.519e-05	0.0002	0.0036	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.241e-05	0	0.0003	0	0.0002	0	0.0032	0.0005	0.0005	0.0010	0.05	0.45756	D	0.065	0.53072	T	1.0	0.90584	D	0.962	0.70672	D	0.003732	0.34560	N	0.298970	0.999065	0.45987	D	1.49	0.37298	L	0.94	0.43672	T	-1.57	0.46673	N	0.752	0.75101	-0.8963	0.48360	T	0.149	0.47505	T	10	0.08643621	0.14693	T	0.025896	0.48845	D	0.223	0.52023	.	.	0.342631996419	0.33872	0.8434346854845833	0.84304	0.358253568036	0.37541	0.347916007042	0.17615	T	0.23816	0.68328	T	-0.299756	0.08683	T	-0.29251	0.45510	T	0.05937659740448	0.07069	T	0.977902	0.97771	D	0.2889596	0.51895	0.10089328	0.24138	0.2889596	0.51895	0.10089328	0.24138	-7.323	0.56359	T	0.27185696503402496	0.36560	0.160	0.35414	B	.;.	.;.	3.099048	0.41754	21.4	0.99843172501411603	0.92316	0.53493	0.29385	D	AEFBI	0.561957	0.56974	D	-0.0168874189822034	0.41093	2.451741	-0.151497127502845	0.33351	1.906842	0.949968743874746	0.27872	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.4	4.51	0.54589	1.810000	0.38570	2.271000	0.31831	0.599000	0.40250	0.395000	0.26129	0.977000	0.30130	0.003000	0.05239	0.2963:0.6296:0.0:0.074	7.652	0.27523	888	0.27761	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1177.83	39	chr2	38681325	.	C	T	1177.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=319;ExcessHet=0;FS=8.81;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.28;SOR=1.441	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1203	5	0	1	0
chr2	38823126	38823126	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon17:c.C2852T:p.T951I,DHX57:NM_198963:exon17:c.C3158T:p.T1053I	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.110857330038	.	.	5.767e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs746784795	3.078e-05	3.078e-05	1.089e-05	5.088e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.967e-05	0.0005	1.314e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000050	0.53742	D	0.000000	1	0.81001	D	4.285	0.98199	H	.	.	.	.	.	.	0.98	0.99015	0.382	0.88822	D	0.515	0.81811	D	10	0.85101104	0.84280	D	0.110857	0.78841	D	.	.	0.7	0.83684	0.910316399455	0.90942	0.9247686459324647	0.92453	.	.	0.78664290905	0.79932	T	0.392903	0.75245	T	0.246617	0.78282	D	0.480635	0.94211	D	0.956182897090912	0.64693	D	0.978652	0.92496	D	0.7099721	0.78605	0.73042226	0.84071	0.7099721	0.78607	0.73042226	0.84073	-11.599	0.82843	D	.	.	0.983	0.91837	P	.	.	5.144883	0.86152	28.8	0.99921652747760026	0.98787	0.99644	0.98286	D	AEFBI	0.895510	0.83561	D	1.15522016594729	0.99032	20.35672	1.05858323045538	0.99474	23.01014	0.999999999995496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	9.864000	0.98442	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.956	0.97222	679	0.60090	Helicase-associated domain|Helicase-associated 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	.	.	.	.	.	.	.	.	0.08333	1179.83	103	chr2	38823126	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=289;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.5;SOR=0.59	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr2	38856392	38856392	T	C	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon7:c.A1351G:p.I451V,DHX57:NM_198963:exon7:c.A1657G:p.I553V	.	441	1076	4	1	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00860981231102	0.0008	0.000998403	0.0013	9.61e-05	8.643e-05	0	0.0002	0.0018	0.0011	0.0016	0.0011255	174	154602	rs201069292	0.0012	0.0012	0.0012	0.0013	0.0031	0.0012	0.0011	0.0020	0.0017	0.0002	0.0002	0.0060	0	0.0001	0.0031	0.0012	0.0016	0.0019	0.0008	0.0008	0.0007	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	9.622e-05	0	0.0002	0.0040	0	9.432e-05	0	0.0011	0.0009	0.0027	.	.	.	0.155	0.31936	T	0.747	0.43174	P	0.842	0.60272	P	0.000056	0.53742	D	0.000000	1	0.81001	D	1.82	0.47800	L	.	.	.	.	.	.	0.629	0.64308	-1.1441	0.01212	T	0.072	0.29227	T	10	0.014772087	0.00310	T	0.00861	0.22755	T	.	.	.	.	0.828523341224	0.82689	0.5502345028145653	0.54949	.	.	0.542066574097	0.44738	T	0.060663	0.31447	T	-0.149213	0.28435	T	-0.0117375	0.69572	D	0.0704552829265594	0.08714	T	0.861114	0.55479	D	0.098597	0.23259	0.09157891	0.21538	0.098597	0.23258	0.09157891	0.21538	-6.021	0.46455	T	.	.	0.100	0.17275	B	.	.	4.035380	0.59704	24.1	0.99908634457070256	0.97875	0.96716	0.70558	D	AEFDBHCIJ	0.874242	0.79702	D	0.638874315412597	0.75650	6.343723	0.617985615104166	0.76245	6.455772	0.999999999971167	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	7.818000	0.84740	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:0.0:1.0	15.636	0.76705	737	0.53483	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	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	331.83	33	chr2	38856392	.	T	C	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.831;DP=207;ExcessHet=0;FS=2.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.638;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1152	5	0	1	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G,ARHGEF33:NM_001367623:exon7:c.C410G:p.A137G	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002500	0.005319	0.000000	0.000000	0.083333	0.000000	0.005882	0.000000	0.08333	424.83	34	chr2	38931156	.	C	G	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.141;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.098;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1224	5	0	1	0
chr2	42301364	42301364	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon13:c.A1439G:p.H480R,EML4:NM_019063:exon14:c.A1613G:p.H538R	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0109883385702	.	.	0.0002	0	0.0003	0	0	7.838e-05	0	0.0006	0.0001164	18	154602	rs766300160	7.121e-05	7.182e-05	5.45e-05	8.808e-05	0.0006	5.985e-05	5.593e-05	0.0004	0.0004	0	0.0004	0	0	0	0.0003	2.699e-05	9.947e-05	0.0006	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0008	6.001e-05	4.876e-05	0.0003	0.0002	2.405e-05	0	0.0003	0	0	0	0	7.351e-05	0.0005	0.0008	0.404	0.10802	T	0.393	0.15355	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.63	0.53088	T	-1.58	0.38151	N	0.632	0.67822	-0.9189	0.45702	T	0.166	0.50469	T	10	0.14746723	0.27942	T	0.010988	0.28145	T	0.197	0.47942	0.497	0.58678	0.453401982733	0.44964	0.5882228102698757	0.58752	0.0631181921462	0.07026	0.788238108158	0.80175	T	0.020932	0.16390	T	-0.0976418	0.36816	T	-0.0138692	0.69431	D	0.0833015133120997	0.10404	T	0.839916	0.51465	T	0.23504056	0.46333	0.20943293	0.45288	0.23504056	0.46333	0.20943293	0.45287	-11.522	0.82445	D	.	.	0.068	0.11510	B	.;.;.	.;.;.	4.502939	0.70449	25.5	0.99445981987443299	0.65021	0.99563	0.97479	D	AEFGBI	0.824549	0.74442	D	0.26917785083807	0.54594	3.624575	0.394255642347139	0.61211	4.317951	0.999999967168559	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	7.019000	0.76152	11.150000	0.87324	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.748	0.77729	904	0.23766	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	861.83	39	chr2	42301364	.	A	G	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.947;DP=221;ExcessHet=0;FS=2.327;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.54;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	5	0	1	0
chr2	43224930	43224930	-	GGGCGGCGGCGGCGTGCGCGACGTGGGGCTGTC	exonic	ZFP36L2	.	nonframeshift insertion	ZFP36L2:NM_006887:exon2:c.873_874insGACAGCCCCACGTCGCGCACGCCGCCGCCGCCC:p.P291_S292insDSPTSRTPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	222.8	34	chr2	43224930	.	A	AGGGCGGCGGCGGCGTGCGCGACGTGGGGCTGTC	222.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=109;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.55;SOR=1.329	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	5	0	1	0
chr2	43574474	43574474	G	C	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon11:c.C1591G:p.L531V,THADA:NM_001271643:exon11:c.C1591G:p.L531V,THADA:NM_001271644:exon11:c.C1591G:p.L531V,THADA:NM_001345923:exon11:c.C1591G:p.L531V,THADA:NM_001345924:exon11:c.C1471G:p.L491V,THADA:NM_022065:exon11:c.C1591G:p.L531V,THADA:NM_001345925:exon12:c.C1591G:p.L531V	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00279553	0.0022	0	0.0002	0	0	0.0002	0.0012	0.0146	0.0017594	272	154602	rs201592210	0.0011	0.0011	0.0006	0.0015	0.0151	0.0010	0.0010	0.0145	0.0142	2.987e-05	0.0002	0	0	0	0.0009	0.0002	0.0011	0.0151	0.0006	0.0006	0.0005	0.0007	0.0143	0.0005	0.0004	0.0116	0.0106	4.813e-05	0	6.536e-05	0	0	0	0.0102	0.0002	0.0005	0.0143	0.008	0.91255	D	0.018	0.92824	D	0.999	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999731	0.48635	D	2.65	0.77586	M	1.24	0.68474	T	-2.06	0.51157	N	0.617	0.71942	-0.0749	0.80667	T	0.495	0.80840	T	10	0.004176259	0.00083	T	.	.	.	0.302	0.62290	.	.	0.487348339145	0.48367	0.4481330787601541	0.44731	.	.	0.460464268923	0.33375	T	0.022522	0.35049	T	-0.152979	0.27845	T	0.0198042	0.71617	D	0.0728186114367229	0.09042	T	0.933907	0.75239	D	0.3528086	0.57284	0.33974877	0.59736	0.3528086	0.57284	0.33974877	0.59736	-8.792	0.66348	D	.	.	0.278	0.53214	B	.;.;.;.;.	.;.;.;.;.	4.506969	0.70541	25.5	0.99850857536313498	0.93013	0.99311	0.94324	D	AEFBI	0.859689	0.77741	D	0.826195839115585	0.87713	9.314701	0.823421429889501	0.91371	10.85346	0.999999999591199	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.598000	0.82000	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.359	0.98850	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1371.83	33	chr2	43574474	.	G	C	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.419;DP=291;ExcessHet=0;FS=2.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.419;SOR=0.932	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	5	0	1	0
chr2	43644707	43644707	G	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon2:c.G34T:p.D12Y	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0436933000781	.	.	1.048e-05	0	0	0	0	1.996e-05	0	0	6.5e-06	1	154602	rs558946969	7.559e-06	7.525e-06	4.102e-06	1.105e-05	0.0005	4.06e-06	2.97e-06	0.0001	7.578e-05	0	0	0	0	0	0.0005	6.32e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.831	0.59664	P	0.000033	0.55875	D	0.114440	0.946789	0.37541	D	2.415	0.69758	M	0.62	0.53302	T	-4.15	0.75297	D	0.778	0.77507	-0.5458	0.66945	T	0.243	0.61107	T	10	0.68986154	0.71788	D	0.043693	0.61115	D	0.236	0.53931	0.426	0.47185	0.359151904892	0.35523	0.3374147879372238	0.33654	0.144387688307	0.16313	0.594457507133	0.52123	T	0.179401	0.53038	T	0.138683	0.68200	D	-0.038568	0.67799	D	0.990137815475464	0.80349	D	0.879712	0.59601	D	0.6302561	0.74312	0.51575536	0.72020	0.6302561	0.74313	0.51575536	0.72021	-9.48	0.70735	D	.	.	0.224	0.45593	B	.	.	4.514617	0.70726	25.6	0.99330031891553094	0.59738	0.91909	0.54526	D	AEFI	0.593353	0.58871	D	0.551117432408735	0.70152	5.459478	0.525881375904064	0.69737	5.403318	0.728489389218857	0.23015	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.4	4.52	0.54797	4.242000	0.58509	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0802:0.0:0.9198:0.0	12.919	0.57616	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	472.06	33	chr2	43644707	.	G	T	472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.143;DP=152;ExcessHet=0.4139;FS=2.463;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.06;SOR=0.374	GT:AD:DP:GQ:PL	0/1:17,14:31:99:253,0,412	4	0	2	0
chr2	43676045	43676045	T	C	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A278G:p.K93R	.	406	1113	3	0	0	3	0.0013459	.	.	.	2205167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0014	0.000599042	0.0007	0	0.0005	0	0	0.0011	0.0011	0.0002	0.0007244	112	154602	rs139124904	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0001	0.0006	0.0042	0	0	0.0026	0.0007	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0.0040	0	0	0.0068	0.0006	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.021444082	0.00513	T	.	.	.	.	.	.	.	.	.	0.4446345336837162	0.44381	.	.	0.293852090836	0.09487	T	0.05551	0.30028	T	.	.	.	.	.	.	.	.	.	0.90471	0.66491	D	0.081111036	0.18621	0.20556799	0.44732	0.081111036	0.18620	0.20556799	0.44731	-3.889	0.22137	T	.	.	0.087	0.11414	B	.	.	3.004991	0.40166	21.1	0.88668321645987846	0.18159	0.85830	0.45008	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996518426726	0.74766	0.199473	0.04044	0	0.059962	0.00310	0	0.112256	0.03162	0	0.250985	0.05351	0	0.679347	0.42376	3.14	1.99	0.25423	3.963000	0.56480	0.853000	0.22156	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.0:0.1223:0.0:0.8777	6.592	0.21847	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3923.06	132	chr2	43676045	.	T	C	3923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.55;DP=651;ExcessHet=0.4139;FS=8.678;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.613;SOR=0.389	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1918,0,1625	4	0	2	0
chr2	43712265	43712265	C	A	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon15:c.C2342A:p.S781Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0981664381011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.967	0.56408	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.2	0.97819	H	2.1	0.19990	T	-5.31	0.84457	D	0.944	0.95139	-0.4825	0.69277	T	0.205	0.56293	T	10	0.8939389	0.88743	D	0.098166	0.76896	D	0.513	0.79156	0.689	0.82653	0.238705975628	0.23479	0.725655930208177	0.72509	0.15302378806	0.17264	0.786617994308	0.79928	T	0.741963	0.92860	D	0.221723	0.75938	D	0.0807136	0.75625	D	0.999322891235352	0.96966	D	0.957004	0.83719	D	0.91768205	0.93023	0.88099974	0.93632	0.91768205	0.93024	0.88099974	0.93632	-12.842	0.88701	D	.	.	0.932	0.85220	P	.	.	4.955393	0.81888	27.7	0.99473248974541439	0.66472	0.99605	0.97912	D	AEFDGI	0.873919	0.79653	D	0.831529292682164	0.88034	9.428808	0.775038626888925	0.88010	9.424401	0.999999999981248	0.74766	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	7.529000	0.80843	7.673000	0.64890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.634	0.91326	610	0.67008	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	958.83	35	chr2	43712265	.	C	A	958.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.049;DP=257;ExcessHet=0;FS=0.863;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.873;SOR=0.547	GT:AD:DP:GQ:PL	0/1:39,40:79:99:969,0,1015	5	0	1	0
chr2	43795896	43795896	G	A	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon7:c.G517A:p.E173K,DYNC2LI1:NM_001348912:exon7:c.G514A:p.E172K,DYNC2LI1:NM_001348913:exon7:c.G517A:p.E173K,DYNC2LI1:NM_016008:exon7:c.G514A:p.E172K	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	437	1082	2	1	0	4	0.00184502	.	.	.	719877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00459265	0.0018	0.0002	0.0003	0.0001	0	1.501e-05	0.0011	0.0129	0.0016429	254	154602	rs115831320	0.0008	0.0008	0.0004	0.0011	0.0123	0.0007	0.0007	0.0117	0.0114	0.0001	0	0	2.523e-05	0	0.0005	9.908e-06	0.0009	0.0123	0.0005	0.0005	0.0003	0.0008	0.0154	0.0004	0.0004	0.0126	0.0115	7.219e-05	0	0	0	0.0002	0	0	0	0	0.0154	0.151	0.24564	T	0.196	0.30241	T	0.362	0.33945	B	0.11	0.31460	B	0.000000	0.84330	D	0.045171	0.999999	0.58761	D	2.765	0.80766	M	1.42	0.33189	T	-1.76	0.41618	N	0.711	0.71498	-0.4705	0.69708	T	0.360	0.72186	T	10	0.0066876113	0.00152	T	.	.	.	0.191	0.46948	.	.	0.297718772494	0.29385	0.5874629934433626	0.58676	0.0499660560402	0.05486	0.620398163795	0.55786	T	0.105077	0.41522	T	-0.128932	0.31669	T	0.0530528	0.73784	D	0.0853788571851265	0.10661	T	0.962704	0.86724	D	0.3747504	0.58934	0.27989653	0.53961	0.35726592	0.57628	0.26108697	0.51880	-4.761	0.34133	T	0.3441454435672304	0.44173	0.129	0.27553	B	.;.	.;.	4.586861	0.72512	25.8	0.99792004079429042	0.87750	0.98645	0.85080	D	AEFBI	0.920819	0.89335	D	0.514517959036952	0.67946	5.150218	0.585100380583896	0.73873	6.041922	0.99995998830196	0.48110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	7.641000	0.82513	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.001	0.92811	617	0.66297	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1272.83	46	chr2	43795896	.	G	A	1272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.704;DP=324;ExcessHet=0;FS=3.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.845;SOR=0.477	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1366	5	0	1	0
chr2	43819997	43819997	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon11:c.A1567G:p.I523V	Sitosterolemia, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	494188	ABCG5-related_disorder|Sitosterolemia_1|Cardiovascular_phenotype|Sitosterolemia|not_provided|not_specified	.|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	0.0347197100427	0.0018	0.000399361	0.0017	0.0006	0.0003	0	0.0065	0.0020	0.0055	0.0009	0.0016623	257	154602	rs140899003	0.0019	0.0019	0.0019	0.0019	0.0020	0.0018	0.0018	0.0020	0.0019	0.0007	0.0003	0	2.519e-05	0.0056	0.0009	0.0020	0.0017	0.0009	0.0018	0.0018	0.0018	0.0018	0.0024	0.0016	0.0016	0.0021	0.0020	0.0009	0	0.0002	0	0	0.0064	0	0.0024	0	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.406145	0.04564	N	1.318130	1	0.08975	N	-0.64	0.02118	N	-0.57	0.71307	T	-0.12	0.08809	N	0.016	0.00203	-1.0460	0.15534	T	0.092	0.35228	T	10	0.011789948	0.00256	T	0.03472	0.55864	D	0.036	0.09122	.	.	0.388010793773	0.38412	0.3166676916906652	0.31579	0.0597340386739	0.06639	0.323835611343	0.14001	T	0.254714	0.62541	T	-0.592306	0.00162	T	-0.627887	0.10576	T	0.0029333322053172	0.00031	T	0.615039	0.23503	T	0.087925084	0.20493	0.04810037	0.07073	0.14205359	0.32707	0.047568806	0.06879	-3.241	0.12988	T	.	.	0.061	0.01126	B	.;.	.;.	-0.175130	0.03221	0.537	0.19121318880610083	0.00631	0.04139	0.09622	N	AEFBI	0.182952	0.31027	N	-1.42977902297355	0.02381	0.1050568	-1.39006962966123	0.03357	0.1564242	1.79854495195864E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.79	-2.43	0.06145	0.337000	0.19582	-0.870000	0.07107	-0.133000	0.13014	0.031000	0.20493	0.000000	0.08366	0.281000	0.24041	0.1329:0.3059:0.12:0.4411	1.990	0.03235	663	0.61610	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	692.83	34	chr2	43819997	.	T	C	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=253;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.677;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	5	0	1	0
chr2	44201572	44201572	A	T	exonic	PPM1B	.	nonsynonymous SNV	PPM1B:NM_001033557:exon2:c.A373T:p.N125Y,PPM1B:NM_002706:exon2:c.A373T:p.N125Y,PPM1B:NM_177968:exon2:c.A373T:p.N125Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0297979672873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.083	0.46406	T	0.151	0.28027	B	0.118	0.32088	B	0.000009	0.62929	D	0.173153	0.999998	0.81001	D	2.07	0.56829	M	2.98	0.09356	T	-3.25	0.68412	D	0.821	0.81658	-1.0598	0.11805	T	0.028	0.12147	T	10	0.47629517	0.60163	T	0.029798	0.52238	D	0.225	0.52323	0.454	0.51775	0.675710424487	0.67296	0.7353246148179691	0.73477	0.403245697634	0.41266	0.853764474392	0.90182	D	0.313561	0.68530	T	0.0486925	0.58175	T	-0.167833	0.57640	T	0.957767128944397	0.65094	D	0.921108	0.71398	D	0.52306813	0.68435	0.33043024	0.58912	0.52306813	0.68436	0.33043024	0.58911	-5.514	0.41999	T	.	.	0.186	0.49324	B	.;.;.;.;.	.;.;.;.;.	3.938312	0.57613	23.9	0.98608405411780686	0.43598	0.98974	0.89400	D	AEFBI	0.921354	0.89470	D	0.149238377690585	0.48777	3.085761	0.312974807004587	0.56303	3.793314	0.999999999998828	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.322000	0.95579	9.358000	0.80353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	1.0:0.0:0.0:0.0	15.989	0.79982	550	0.72197	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2689.83	196	chr2	44201572	.	A	T	2689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.456;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.694;SOR=0.69	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1253	5	0	1	0
chr2	44320382	44320382	G	C	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1801C:p.E601Q	Cystinuria, Autosomal recessive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0168761262378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.11262	T	0.516	0.17910	T	0.02	0.18235	B	0.005	0.11217	B	0.123165	0.18928	N	0.589505	1	0.81001	D	2.03	0.55503	M	-4.16	0.96826	D	-0.68	0.21644	N	0.065	0.03956	0.279	0.87225	D	0.789	0.92829	D	10	0.14294839	0.27146	T	0.016876	0.38341	T	0.317	0.63904	0.441	0.49648	0.840170263872	0.83864	0.49457928016213903	0.49378	0.00643098359637	0.00562	0.314579546452	0.12600	T	0.221453	0.58503	T	0.0677091	0.60570	T	-0.140517	0.60073	T	0.133556469586229	0.15706	T	0.564644	0.21854	T	0.1559119	0.35212	0.04737812	0.06812	0.1559119	0.35212	0.04737812	0.06811	-4.34	0.34997	T	0.16450507169122866	0.20334	0.098	0.17742	B	.;.;.	.;.;.	1.607065	0.20540	14.80	0.98440658981604001	0.41508	0.71240	0.34928	D	AEFBHCI	0.259600	0.37791	N	-0.124676017451481	0.36319	2.097798	0.0488131438889831	0.42014	2.533949	0.235671440171592	0.18515	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.11	0.69188	0.844000	0.27307	4.453000	0.43430	0.596000	0.33519	0.129000	0.23328	1.000000	0.68203	0.998000	0.85391	0.0722:0.1577:0.7701:0.0	11.464	0.49471	845	0.36510	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	933.83	33	chr2	44320382	.	G	C	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.589;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.206;SOR=0.618	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1174	5	0	1	0
chr2	44338419	44338419	G	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042386:exon7:c.C1087G:p.L363V,PREPL:NM_001171613:exon7:c.C820G:p.L274V,PREPL:NM_001171617:exon7:c.C820G:p.L274V,PREPL:NM_001374277:exon7:c.C820G:p.L274V,PREPL:NM_006036:exon7:c.C1087G:p.L363V,PREPL:NM_001171603:exon8:c.C1087G:p.L363V,PREPL:NM_001171606:exon8:c.C1087G:p.L363V,PREPL:NM_001374275:exon8:c.C1087G:p.L363V,PREPL:NM_001374276:exon8:c.C1087G:p.L363V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0187258541385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.24372	T	0.866	0.06427	T	0.716	0.42206	P	0.288	0.40614	B	0.000103	0.50451	D	0.137025	0.985971	0.81001	D	0.75	0.19020	N	1.0	0.41392	T	-0.41	0.16187	N	0.383	0.42541	-0.9720	0.36776	T	0.110	0.39723	T	10	0.2905504	0.46635	T	0.018726	0.40888	T	0.105	0.29889	0.552	0.66856	0.399159426805	0.39527	0.5945990608760422	0.59389	0.0126997293129	0.01221	0.664878547192	0.62107	T	0.024924	0.18739	T	-0.0949127	0.37265	T	-0.374112	0.36408	T	0.6251180768013	0.37416	D	0.855714	0.54589	D	0.10428515	0.24653	0.11058277	0.26664	0.10428515	0.24653	0.11058277	0.26664	-2.68	0.17713	T	0.19564141764541546	0.25816	0.196	0.54190	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.687392	0.35076	19.80	0.93943178941358574	0.23999	0.91054	0.52770	D	AEFBI	0.293903	0.40441	N	0.0682955789052144	0.44988	2.763003	0.175926879175334	0.48533	3.067832	0.993032636375026	0.33060	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	3.275000	0.51342	5.248000	0.48084	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.078	0.93151	840	0.37365	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1620.06	33	chr2	44338419	.	G	C	1620.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.219;DP=221;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.561;SOR=0.629	GT:AD:DP:GQ:PL	0/1:15,38:53:99:996,0,295	4	0	2	0
chr2	44942319	44942319	C	T	exonic	SIX3	.	nonsynonymous SNV	SIX3:NM_005413:exon1:c.C215T:p.A72V	Holoprosencephaly 2, Autosomal dominant, Isolated cases;Schizencephaly	3	1506	11	2	0	15	0.0049554	.	.	.	2974809	Inborn_genetic_diseases|Holoprosencephaly_2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.903417206577	.	.	9.679e-05	0	0	0	0	7.97e-05	0	0.0003	5.17e-05	8	154602	rs781731500	6.688e-05	6.704e-05	4.709e-05	8.689e-05	0.0004	5.596e-05	5.201e-05	0.0001	0.0001	0	0	0	7.664e-05	0	0.0004	5.242e-05	0.0002	0.0002	1.986e-05	1.972e-05	1.293e-05	2.712e-05	4.436e-05	5.28e-06	2.46e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.436e-05	0	0	0.137	0.25979	T	0.144	0.33109	T	0.442	0.35927	B	0.051	0.25434	B	0.023576	0.26418	U	0.276023	0.985303	0.24723	N	0.805	0.20218	L	-3.02	0.92258	D	-0.31	0.12099	N	0.328	0.36884	-0.4221	0.71323	T	0.537	0.82873	D	10	0.20037779	0.36083	T	0.903417	0.99275	D	0.202	0.48754	0.095	0.01241	0.861652415154	0.86031	0.6933912227227136	0.69279	1.11979540044	0.78263	0.892723858356	0.95595	D	0.206214	0.56549	T	-0.182625	0.23345	T	-0.192688	0.55338	T	0.0315128301708468	0.02228	T	0.532447	0.17709	T	0.10677463	0.25247	0.13802749	0.32975	0.10677463	0.25247	0.13802749	0.32974	-4.057	0.24654	T	0.0883490182510563	0.05285	0.092	0.13690	B	.	.	4.946549	0.81679	27.6	0.9851990051313293	0.42447	0.60140	0.31111	D	AEFDBCIJ	0.075902	0.15255	N	-0.331111124992804	0.27972	1.539053	-0.286900461463469	0.28529	1.59143	0.999530390351953	0.40238	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.72	1.8	0.24069	0.864000	0.27581	5.624000	0.49094	0.503000	0.22915	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.7777:0.2223:0.0	9.289	0.36934	748	0.52143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002548	0.000000	0.005450	0.000000	0.000000	0.008621	0.000000	0.003817	0.08333	1165.83	45	chr2	44942319	.	C	T	1165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.72;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.651;SOR=0.653	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1444	5	0	1	0
chr2	45602012	45602012	C	T	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon3:c.G152A:p.R51H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00484962598632	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780524094	4.994e-05	5.062e-05	4.764e-05	5.225e-05	0.0014	4.059e-05	3.734e-05	0.0007	0.0005	0	0.0004	0	2.519e-05	0	0.0014	3.597e-05	6.623e-05	0	0.0003	0.0003	0.0002	0.0004	0.0024	0.0002	0.0002	0.0018	0.0016	0	0	0.0024	0	0	0	0	4.41e-05	0	0	0.064	0.36509	T	0.147	0.32783	T	0.001	0.07471	B	0.001	0.04355	B	0.295409	0.14693	N	0.636972	1	0.08975	N	1.935	0.51832	L	1.85	0.24472	T	-0.86	0.23372	N	0.215	0.24010	-1.0273	0.21331	T	0.031	0.13504	T	10	0.0224711	0.00562	T	0.00485	0.12161	T	0.025	0.05312	.	.	0.130388298395	0.12655	0.17411035605753242	0.17330	0.0134282802055	0.01290	0.297976732254	0.10101	T	0.004241	0.03650	T	-0.523937	0.00417	T	-0.631794	0.10280	T	0.021730531878739	0.00879	T	0.676232	0.28483	T	0.026259007	0.01660	0.023414873	0.00355	0.026259007	0.01660	0.023414873	0.00355	-9.414	0.70323	D	.	.	0.098	0.16143	B	.	.	1.402174	0.18166	13.58	0.9781768301233007	0.36174	0.04601	0.10256	N	AEFDBI	0.043856	0.06984	N	-1.03912065209292	0.07803	0.3637026	-1.00797668343641	0.09609	0.4790541	0.731689129770525	0.23056	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.7	1.78	0.23918	0.306000	0.19030	0.134000	0.15084	-0.172000	0.11096	0.001000	0.13787	0.002000	0.18203	0.392000	0.26603	0.2844:0.5:0.1377:0.0779	4.107	0.09515	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1070.83	34	chr2	45602012	.	C	T	1070.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=259;ExcessHet=0;FS=0.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.343;SOR=0.871	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1081,0,1003	5	0	1	0
chr2	46758626	46758626	G	A	exonic	SOCS5	.	nonsynonymous SNV	SOCS5:NM_014011:exon2:c.G96A:p.M32I,SOCS5:NM_144949:exon2:c.G96A:p.M32I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00548515277445	.	.	3.302e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs774542100	1.574e-05	1.573e-05	6.807e-06	2.475e-05	0.0002	1.048e-05	8.75e-06	0.0001	9.451e-05	0	0	0	0	0	0.0002	0	9.937e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.272	0.15930	T	0.408	0.14633	T	0.0	0.02946	B	0.0	0.01387	B	0.269468	0.15156	N	0.655281	0.672235	0.30354	N	0.205	0.09354	N	1.62	0.28189	T	-0.23	0.10656	N	0.091	0.07262	-1.0748	0.08390	T	0.046	0.19599	T	10	0.058442324	0.06871	T	0.005485	0.14106	T	0.050	0.13987	0.187	0.09646	0.279776271856	0.27574	0.23431999031180184	0.23346	0.148172030145	0.16707	0.327716886997	0.14590	T	0.267372	0.63939	T	-0.402901	0.02216	T	-0.556837	0.16675	T	0.149075508117676	0.17029	T	0.70223	0.31206	T	0.14699003	0.33623	0.15428741	0.36217	0.14699003	0.33623	0.15428741	0.36216	-1.917	0.02882	T	.	.	0.104	0.19276	B	.;.	.;.	2.614190	0.33961	19.49	0.97946413928184073	0.37071	0.90388	0.51524	D	AEFBI	0.178328	0.30559	N	-0.198510242131039	0.33195	1.880623	0.0281677969860849	0.41029	2.458111	0.999994465253938	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.663000	0.37045	6.510000	0.55805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.7437:0.2563	13.063	0.58428	736	0.53558	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	862.83	42	chr2	46758626	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.13;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=1.29;SOR=0.601	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	5	0	1	0
chr2	47905587	47905601	GGCTGCTGCTGGGGC	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.120_134del:p.Q42_P46del	.	415	1100	7	0	0	7	0.00317173	.	.	.	1069739	not_provided|Intellectual_developmental_disorder_with_dysmorphic_facies_and_behavioral_abnormalities|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0060760,MedGen:C4748135,OMIM:618089|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0	0	.	0	0	0	0.0062	0.0001537	4	26028	rs747252806	0.0023	0.0020	0.0023	0.0023	0.0091	0.0022	0.0022	0.0082	0.0078	0.0073	0.0044	0.0020	0.0091	0.0010	0.0027	0.0018	0.0032	0.0068	0.0042	0.0041	0.0041	0.0043	0.0100	0.0039	0.0038	0.0078	0.0070	0.0073	0.0023	0.0041	0.0021	0.0100	0.0009	0	0.0020	0.0078	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	694.79	50	chr2	47905586	.	AGGCTGCTGCTGGGGC	A	694.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.553;DP=159;ExcessHet=0;FS=1.144;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.794;SOR=1.042	GT:AD:DP:GQ:PL	0/0:26,0:26:66:0,66,752	5	0	1	0
chr2	54869270	54869270	A	G	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon14:c.A2141G:p.N714S	.	434	1085	3	0	0	3	0.00138058	.	.	.	2217834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.00370156023818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427957837	2.359e-05	2.257e-05	2.539e-05	2.174e-05	0.0009	1.682e-05	1.48e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.205e-05	3.444e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.074	0.34621	T	0.122	0.35710	T	0.021	0.18474	B	0.077	0.28532	B	0.434485	0.12707	U	0.507482	0.923906	0.36760	D	1.745	0.45235	L	1.38	0.34050	T	-2.87	0.60348	D	0.079	0.05414	-1.0052	0.28397	T	0.104	0.38094	T	10	0.14551088	0.27601	T	0.003702	0.08558	T	0.131	0.35738	.	.	0.308278614506	0.30437	0.1898812063745678	0.18906	0.145345323032	0.16423	0.504904568195	0.39511	T	0.199973	0.55742	T	-0.461864	0.00957	T	-0.664543	0.07964	T	0.442475020885468	0.30521	T	0.916408	0.70110	D	0.09868184	0.23278	0.15565109	0.36476	0.09868184	0.23278	0.15565109	0.36475	-6.096	0.47076	T	.	.	0.071	0.03736	B	.	.	1.902571	0.24163	16.29	0.99386935167251034	0.62157	0.94646	0.61848	D	AEFGI	0.443145	0.50058	N	-0.0253935565687547	0.40707	2.422168	0.11783101308293	0.45462	2.808854	0.999980352957904	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.17	5.03	0.67015	4.230000	0.58432	1.016000	0.23368	0.756000	0.94297	1.000000	0.71638	0.017000	0.20586	0.824000	0.38829	0.8656:0.0:0.1344:0.0	9.936	0.40719	319	0.87030	HELP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	783.83	37	chr2	54869270	.	A	G	783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=274;ExcessHet=0;FS=2.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.8;SOR=1.036	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	5	0	1	0
chr2	58163454	58163454	A	C	exonic	FANCL	.	nonsynonymous SNV	FANCL:NM_001114636:exon9:c.T770G:p.F257C,FANCL:NM_018062:exon9:c.T755G:p.F252C,FANCL:NM_001374615:exon10:c.T800G:p.F267C	Fanconi anemia, complementation group L, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	YES	221316	Fanconi_anemia|Fanconi_anemia_complementation_group_L|not_specified|FANCL-related_disorder	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	.	7.7e-05	0.00559105	0.0035	0.0002	0.0003	0	0	3.06e-05	0.0034	0.0250	0.0029948	463	154602	rs139801716	0.0015	0.0015	0.0008	0.0021	0.0229	0.0014	0.0014	0.0221	0.0217	5.991e-05	0	0	2.524e-05	0	0.0007	5.772e-05	0.0016	0.0229	0.0009	0.0009	0.0005	0.0013	0.0277	0.0008	0.0007	0.0238	0.0224	0	0	0.0002	0	0	0	0	2.949e-05	0.0005	0.0277	0.179	0.22053	T	0.18	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.000638	0.42799	N	0.312447	1	0.81001	D	-0.87	0.01450	N	1.0	0.41392	T	0.21	0.05035	N	0.326	0.36674	-1.0790	0.07543	T	0.032	0.13898	T	10	0.0059069097	0.00132	T	.	.	.	0.173	0.43840	.	.	0.222439326576	0.21863	0.40750687456925927	0.40666	0.00879722314409	0.00799	0.388291597366	0.23430	T	0.062859	0.32026	T	-0.489593	0.00653	T	-0.457789	0.26842	T	0.0144385045137046	0.00292	T	0.718628	0.33942	T	0.13463794	0.31275	0.055789348	0.09850	0.09627695	0.22673	0.07277512	0.15737	-0.789	0.00933	T	0.055221242578550184	0.01215	0.047	0.00148	B	.;.;.;.;.;.	.;.;.;.;.;.	1.692326	0.21561	15.25	0.83561083792610646	0.14793	0.20579	0.21093	N	AEFBI	0.103345	0.20707	N	-0.813964114447289	0.12953	0.6348265	-0.597891417315614	0.19547	1.049281	7.6425223206036E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.66	1.24	0.20416	0.199000	0.17037	0.683000	0.20697	-0.265000	0.06832	0.959000	0.33545	0.998000	0.33993	0.981000	0.58702	0.3974:0.2206:0.1282:0.2537	0.511	0.00556	758	0.50837	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;Fanconi anemia complex, subunit FancL, WD-repeat containing domain;Fanconi anemia complex, subunit FancL, WD-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	1	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	320.83	33	chr2	58163454	.	A	C	320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.365;SOR=0.818	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,843	5	0	1	0
chr2	68386616	68386616	T	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon5:c.T587C:p.M196T	.	428	1091	3	0	0	3	0.001373	.	.	.	3997148	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00296999753974	7.7e-05	0.000199681	0.0001	9.61e-05	0.0003	0	0	0.0001	0	0.0002	0.00011	17	154602	rs143153981	4.584e-05	4.652e-05	4.901e-05	4.263e-05	0.0009	3.662e-05	3.348e-05	0.0003	0.0002	0	0.0002	0	0	0	0.0009	2.788e-05	0.0001	0.0002	5.908e-05	5.905e-05	2.57e-05	9.395e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	2.405e-05	0	0	0	0	0	0.0034	7.35e-05	0.0005	0.0002	0.29	0.14996	T	0.303	0.20164	T	0.0	0.02946	B	0.001	0.04355	B	0.056872	0.22525	N	0.479454	0.992595	0.23857	N	-1.01	0.01154	N	2.02	0.21119	T	-0.49	0.15578	N	0.029	0.00666	-1.0001	0.29888	T	0.016	0.06569	T	10	0.039812833	0.02500	T	0.00297	0.06339	T	0.075	0.21907	.	.	0.589843679045	0.58660	0.2508097299409253	0.24994	0.0588096499153	0.06527	0.363173186779	0.19847	T	0.066236	0.32893	T	-0.507309	0.00520	T	-0.706811	0.05461	T	0.0270311461883977	0.01549	T	0.764224	0.39120	T	0.06680564	0.14408	0.08013641	0.18103	0.06680564	0.14407	0.08013641	0.18103	-1.605	0.01993	T	.	.	0.069	0.03128	B	.	.	2.560094	0.33151	19.26	0.88985742080117947	0.18416	0.68428	0.33798	D	AEFDGBHCI	0.245504	0.36642	N	-0.466777199219861	0.23175	1.242676	-0.195721689532715	0.31693	1.796037	0.999999999781173	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	3.135000	0.50241	7.797000	0.69042	0.661000	0.55757	0.809000	0.29839	1.000000	0.68203	0.937000	0.47636	0.0:0.084:0.0:0.916	10.153	0.41978	563	0.71062	DEP domain|DEP domain|DEP domain|Pleckstrin 1, DEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	876.83	34	chr2	68386616	.	T	C	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.436;DP=272;ExcessHet=0;FS=5.779;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.707;SOR=0.286	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1401	5	0	1	0
chr2	68866476	68866476	C	T	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon2:c.G430A:p.E144K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.165851480792	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750438622	3.421e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.73	0.73100	T	-3.25	0.65283	D	0.955	0.96416	0.227	0.86371	D	0.586	0.85149	D	10	0.96778953	0.96299	D	0.165851	0.84461	D	0.828	0.94541	0.837	0.94418	0.848838842824	0.84739	0.9377685575499655	0.93756	1.0664861996	0.76637	0.62247210741	0.56078	T	0.880769	0.97499	D	0.237348	0.77410	D	0.284685	0.87372	D	0.79102804609368	0.45757	D	0.939806	0.77272	D	0.8191248	0.85161	0.74604064	0.84989	0.8191248	0.85162	0.74604064	0.84990	-7.75	0.59354	D	.	.	0.668	0.71640	P	.	.	4.707895	0.75603	26.4	0.99932470607961787	0.99439	0.99657	0.98405	D	AEFBI	0.942832	0.94791	D	0.897757908978927	0.91649	10.99188	0.871631397603469	0.94212	12.58918	0.999999999999918	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.715000	0.83682	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.108	0.93286	829	0.39537	TGF-beta, propeptide	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	875.83	41	chr2	68866476	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=-0.698;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	5	0	1	0
chr2	69520916	69520916	C	A	exonic	AAK1	.	nonsynonymous SNV	AAK1:NM_001371575:exon11:c.G1128T:p.Q376H,AAK1:NM_001371577:exon11:c.G1128T:p.Q376H,AAK1:NM_014911:exon11:c.G1128T:p.Q376H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0322980361312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.112	0.37037	T	0.996	0.68779	D	0.862	0.62418	P	0.000000	0.84330	D	0.054076	0.993089	0.41831	D	2.455	0.71248	M	1.54	0.77336	T	-2.31	0.53577	N	0.467	0.57518	-0.3469	0.73643	T	0.399	0.75073	T	10	0.33158714	0.50378	T	0.032298	0.54161	D	0.169	0.43123	0.183	0.09131	0.767456104386	0.76533	0.43964145955007883	0.43881	0.334752977598	0.35486	0.752207040787	0.74772	T	0.027953	0.21560	T	-0.000931156	0.51525	T	-0.239114	0.50884	T	0.881201684474945	0.53125	D	0.935006	0.75597	D	0.3168592	0.54373	0.25065812	0.50661	0.3168592	0.54373	0.25065812	0.50661	-6.908	0.53358	T	.	.	0.544	0.67264	A	.;.;.	.;.;.	3.622144	0.51264	23.1	0.99701555927152818	0.80660	0.90406	0.51556	D	AEFBI	0.254874	0.37411	N	0.222540777116351	0.52292	3.404366	0.217313044446708	0.50806	3.269022	0.789694335906779	0.23993	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.38	0.28415	1.055000	0.30077	0.796000	0.21614	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.6989:0.0:0.3011	10.086	0.41592	653	0.62661	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	433.83	33	chr2	69520916	.	C	A	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.278;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.63;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1086:.	5	0	1	0
chr2	70900637	70900637	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon1:c.G16A:p.A6T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.936596288065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.47e-06	1.71e-05	5.131e-06	3.747e-06	0.0003	1.31e-06	9.5e-07	3.5e-07	1.3e-07	0	0	0	0	0	0.0003	2.127e-06	2.209e-05	3.123e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.096	0.31088	T	0.293	0.20811	T	0.003	0.11197	B	0.002	0.06944	B	0.000186	0.48115	N	0.138148	0.775222	0.29393	N	0.55	0.14455	N	-2.51	0.89293	D	-0.09	0.08340	N	0.188	0.20528	-0.7764	0.56504	T	0.353	0.71665	T	10	0.19354981	0.35129	T	0.936596	0.99546	D	0.163	0.42028	0.282	0.23801	0.809877041126	0.80809	0.0923105903689296	0.09163	0.0402233226673	0.04305	0.872938036919	0.92986	D	0.079453	0.36132	T	-0.108211	0.35064	T	-0.393214	0.34175	T	0.724695086479187	0.41937	D	0.529347	0.17530	T	0.10999901	0.26004	0.16898416	0.38899	0.10999901	0.26003	0.16898416	0.38899	-5.257	0.39516	T	.	.	0.124	0.26200	B	.	.	2.530784	0.32720	19.13	0.99471084607114635	0.66365	0.65670	0.32815	D	ALL	0.047659	0.08047	N	-0.621890079400354	0.18288	0.948235	-0.491284557300689	0.22392	1.216032	0.999999997533736	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.72	0.497	0.16109	0.524000	0.22648	1.797000	0.28849	0.502000	0.22824	0.677000	0.28411	1.000000	0.68203	0.997000	0.79791	0.2267:0.2029:0.5704:0.0	3.922	0.08748	733	0.53988	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.29	13	chr2	70900637	.	G	A	30.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,56	5	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.08333	542.83	39	chr2	70921265	.	C	A	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.654;DP=270;ExcessHet=0;FS=1.014;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.907;SOR=0.522	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	5	0	1	0
chr2	70933131	70933131	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon3:c.C800T:p.S267L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.804986293268	7.7e-05	.	6.357e-05	0	0	0.0001	0.0006	0	0	0.0002	4.53e-05	7	154602	rs141208791	3.723e-05	3.762e-05	4.386e-05	3.052e-05	0.0002	2.916e-05	2.613e-05	0.0001	8.037e-05	6.029e-05	2.311e-05	3.957e-05	2.527e-05	0.0003	0	1.626e-05	3.338e-05	0.0002	9.847e-05	9.841e-05	2.569e-05	0.0002	0.0006	6.001e-05	4.875e-05	0.0002	8.992e-05	0	0	0	0	0	0.0009	0	2.94e-05	0	0.0006	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	2.74	0.80084	M	-2.78	0.90962	D	-2.57	0.55501	D	0.438	0.47672	0.683	0.92964	D	0.759	0.91795	D	10	0.49784836	0.61372	T	0.804986	0.98476	D	0.612	0.84826	.	.	0.995957864842	0.99591	0.4776292850191829	0.47682	0.258122249749	0.28371	0.617861390114	0.55427	T	0.258974	0.63019	T	0.144798	0.68778	D	0.156119	0.80567	D	0.628081262111664	0.37539	D	0.889211	0.62120	D	0.5715698	0.71146	0.5717478	0.75199	0.5715698	0.71147	0.5717478	0.75200	-3.316	0.13945	T	.	.	0.126	0.26794	B	.	.	3.907735	0.56965	23.8	0.99884475871140666	0.95970	0.97676	0.76338	D	AEFDBI	0.702397	0.65878	D	0.414915590146932	0.62242	4.436939	0.377446157438749	0.60178	4.202486	0.999999999992846	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.06	5.06	0.67838	2.134000	0.41725	5.941000	0.51480	0.549000	0.26987	0.741000	0.29037	1.000000	0.68203	0.663000	0.33052	0.0:1.0:0.0:0.0	15.928	0.79422	752	0.51611	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1157.83	34	chr2	70933131	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.724;DP=273;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.071;SOR=0.577	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1185	5	0	1	0
chr2	71133301	71133301	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon2:c.G493A:p.V165I	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00352055539245	0.0022	0.000998403	0.0017	0.0003	0.0017	0.0001	0.0009	0.0025	0.0011	0.0004	0.0018305	283	154602	rs150757204	0.0020	0.0020	0.0019	0.0020	0.0107	0.0019	0.0019	0.0086	0.0078	0.0004	0.0022	0.0012	0.0001	0.0005	0.0107	0.0022	0.0018	0.0005	0.0015	0.0015	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0020	0.0006	0	0.0018	0.0014	0	0.0003	0	0.0024	0.0028	0.0008	0.235	0.18000	T	0.189	0.28575	T	0.424	0.35452	B	0.09	0.29851	B	0.622136	0.05762	N	1.217970	1	0.08975	N	2.125	0.59049	M	2.93	0.09822	T	-0.25	0.11008	N	0.043	0.01825	-1.0419	0.16741	T	0.028	0.11882	T	10	0.0066148043	0.00150	T	0.003521	0.08000	T	0.155	0.40530	.	.	0.418401263072	0.41457	0.02593647647647041	0.02544	0.0987835696612	0.11157	0.266994297504	0.05752	T	0.00739	0.06799	T	-0.682338	0.00046	T	-0.757834	0.03191	T	0.0200862010769222	0.00709	T	0.573743	0.20563	T	0.035979446	0.04338	0.041145176	0.04610	0.035979446	0.04337	0.041145176	0.04610	-3.796	0.20745	T	.	.	0.079	0.12132	B	.;.	.;.	1.684923	0.21469	15.21	0.98257954481801291	0.39639	0.31448	0.24340	N	AEFGBI	0.100723	0.20246	N	-0.256300679930867	0.30852	1.724281	-0.266832775938537	0.29198	1.633938	0.999999786627001	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.05	4.16	0.48138	0.926000	0.28405	.	.	0.676000	0.76740	0.000000	0.06391	0.156000	0.23222	0.915000	0.45038	0.093:0.0:0.907:0.0	10.848	0.45958	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.1667	1800.06	55	chr2	71133301	.	G	A	1800.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.61;DP=290;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=1.07;SOR=1.039	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1071,0,574	4	0	2	0
chr2	71134031	71134031	T	G	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon3:c.T852G:p.D284E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0029	0.00319489	0.0009	0.0088	0.0010	0	0	3.03e-05	0	0	0.0008085	125	154602	rs138051249	0.0003	0.0003	0.0003	0.0002	0.0089	0.0003	0.0002	0.0080	0.0077	0.0089	0.0008	0	0	0	0.0007	1.802e-05	0.0007	3.504e-05	0.0028	0.0028	0.0027	0.0029	0.0098	0.0026	0.0025	0.0090	0.0087	0.0098	0	0.0014	0	0	0	0	5.88e-05	0.0005	0	0.428	0.09600	T	0.782	0.08654	T	0.0	0.02946	B	0.001	0.04355	B	0.337430	0.14017	N	0.712483	1	0.08975	N	1.82	0.47800	L	2.92	0.09915	T	0.33	0.03889	N	0.214	0.24260	-0.9349	0.43409	T	0.007	0.02244	T	10	0.0058249235	0.00130	T	.	.	.	0.028	0.06331	0.386	0.40624	0.454925483252	0.45117	0.03356622172362509	0.03304	0.118506988283	0.13345	0.358766227961	0.19206	T	0.003172	0.02576	T	-0.682108	0.00047	T	-0.74547	0.03665	T	0.00506824083303858	0.00055	T	0.454955	0.13513	T	0.040278602	0.05719	0.028124236	0.01021	0.040278602	0.05719	0.028124236	0.01021	-3.501	0.16445	T	.	.	0.087	0.11269	B	.;.	.;.	0.403239	0.07744	4.426	0.77000030298701516	0.11695	0.70179	0.34484	D	AEFBCI	0.187543	0.31484	N	-0.972662492198403	0.09190	0.4339577	-0.917137613849849	0.11690	0.5970983	0.999954625428752	0.48110	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	0.383	0.15462	-0.206000	0.09400	.	.	0.366000	0.20181	0.924000	0.32081	0.000000	0.08366	0.055000	0.15596	0.3069:0.0901:0.0:0.603	4.277	0.10262	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	927.83	72	chr2	71134031	.	T	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=245;ExcessHet=0;FS=3.852;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.771;SOR=1.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	5	0	1	0
chr2	71349505	71349505	G	A	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.G551A:p.R184H,ZNF638:NM_001252612:exon2:c.G551A:p.R184H,ZNF638:NM_001252613:exon2:c.G551A:p.R184H,ZNF638:NM_014497:exon2:c.G551A:p.R184H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00600535546193	7.7e-05	.	8.266e-06	9.679e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs374546224	4.241e-05	4.241e-05	4.628e-05	3.85e-05	5.126e-05	3.376e-05	3.065e-05	4.005e-05	3.657e-05	0	0	0	0	0	0	5.126e-05	4.967e-05	2.319e-05	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0002	2.111e-05	1.528e-05	7.902e-05	5.594e-05	0.0002	0	0	0	0	0	0	0	0	0	0.207	0.36113	T	0.225	0.34359	T	1.0	0.90584	D	0.991	0.79672	D	0.000098	0.51296	D	0.140156	0.99551	0.42726	D	0.255	0.09829	N	0.7	0.51474	T	-1.8	0.42384	N	0.088	0.06587	-0.1935	0.77839	T	0.448	0.78318	T	10	0.2151925	0.38064	T	0.006005	0.15668	T	0.156	0.40720	.	.	0.262679179196	0.25893	0.4527782690211794	0.45195	0.269591816895	0.29478	0.467658758163	0.34359	T	0.029096	0.20925	T	-0.206399	0.19890	T	-0.352108	0.38963	T	0.800260543823242	0.46370	D	0.923508	0.72088	D	0.060519073	0.12427	0.060725212	0.11612	0.060519073	0.12426	0.060725212	0.11611	-6.541	0.54099	T	.	.	0.102	0.21277	B	.;.;.;.	.;.;.;.	3.730218	0.53359	23.4	0.99930949773157673	0.99387	0.72642	0.35549	D	AEFBCI	0.254599	0.37388	N	0.550103359785869	0.70088	5.450473	0.592900250181527	0.74429	6.135661	0.999972791060256	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	2.603000	0.45930	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.639	0.88034	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1760.83	149	chr2	71349505	.	G	A	1760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.47;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.973;SOR=0.695	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1607	5	0	1	0
chr2	71349897	71349897	A	G	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon2:c.A943G:p.I315V,ZNF638:NM_001252612:exon2:c.A943G:p.I315V,ZNF638:NM_001252613:exon2:c.A943G:p.I315V,ZNF638:NM_014497:exon2:c.A943G:p.I315V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0026	0.00279553	0.0007	0.0084	8.639e-05	0	0	1.498e-05	0	0	0.000718	111	154602	rs139900748	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0005	1.799e-06	0.0005	3.478e-05	0.0024	0.0024	0.0025	0.0023	0.0085	0.0022	0.0021	0.0078	0.0075	0.0085	0	0.0006	0	0	0	0	4.409e-05	0	0	0.042	0.41637	D	0.77	0.08565	T	0.913	0.50474	P	0.891	0.63213	P	0.001734	0.38161	N	0.268519	0.907318	0.27580	N	2.14	0.59869	M	1.45	0.32482	T	-0.13	0.08971	N	0.051	0.11483	-0.8259	0.53563	T	0.215	0.57639	T	10	0.0032099485	0.00054	T	.	.	.	0.127	0.34888	.	.	0.0934897674506	0.08844	0.16050830595812343	0.15971	0.0356174116242	0.03758	0.429155886173	0.29093	T	0.017843	0.14486	T	-0.520529	0.00437	T	-0.514789	0.20825	T	0.0379932604026802	0.03331	T	0.718928	0.33194	T	0.034464534	0.03873	0.039099228	0.03927	0.034464534	0.03873	0.039099228	0.03926	-2.276	0.04677	T	.	.	0.063	0.03479	B	.;.;.	.;.;.	1.268889	0.16672	12.69	0.99491214306180642	0.67460	0.15056	0.18722	N	AEFBI	0.056865	0.10547	N	-0.112364878220428	0.36853	2.135942	-0.13967158542672	0.33807	1.937856	0.951932580391026	0.27986	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	3.41	0.38145	0.399000	0.20641	.	.	0.756000	0.94297	0.086000	0.22486	0.845000	0.27336	0.539000	0.29915	0.735:0.1769:0.0881:0.0	5.403	0.15605	707	0.57054	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2379.83	193	chr2	71349897	.	A	G	2379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.784;DP=386;ExcessHet=0;FS=7.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.283;SOR=0.369	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1607	5	0	1	0
chr2	71423005	71423005	C	T	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon22:c.C3491T:p.T1164I,ZNF638:NM_001252612:exon22:c.C3491T:p.T1164I,ZNF638:NM_001252613:exon22:c.C3491T:p.T1164I,ZNF638:NM_014497:exon22:c.C3491T:p.T1164I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0124099839299	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs775034658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.215	0.26306	T	0.838	0.46404	P	0.367	0.43430	B	0.005959	0.32383	N	0.219105	1	0.19238	N	1.625	0.41611	L	1.47	0.31987	T	-1.33	0.33197	N	0.254	0.30347	-1.0796	0.07426	T	0.068	0.27947	T	10	0.092464745	0.16284	T	0.01241	0.30958	T	0.039	0.10176	0.23	0.15705	0.043077524339	0.03247	0.14889214919659924	0.14811	0.101699149818	0.11504	0.409465014935	0.26383	T	0.028395	0.20579	T	-0.155551	0.27447	T	-0.461215	0.26467	T	0.551341474056244	0.34527	D	0.889911	0.62289	D	0.08723379	0.20304	0.12782551	0.30764	0.08723379	0.20304	0.12782551	0.30763	-4.636	0.32621	T	.	.	0.121	0.25265	B	.;.	.;.	1.332052	0.17371	13.13	0.98689952459724661	0.44738	0.08962	0.14810	N	AEFDGBIJ	0.076239	0.15332	N	-0.157251814511563	0.34928	2.000	-0.207583327170464	0.31262	1.767615	0.99994757905376	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.54	3.6	0.40374	1.141000	0.31140	.	.	0.599000	0.40250	0.001000	0.13787	0.914000	0.28189	0.654000	0.32802	0.3212:0.6788:0.0:0.0	11.487	0.49609	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1051.83	34	chr2	71423005	.	C	T	1051.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.827;DP=250;ExcessHet=0;FS=3.005;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.255;SOR=0.497	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	5	0	1	0
chr2	71564154	71564154	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon23:c.C2410T:p.R804W,DYSF:NM_001130977:exon23:c.C2410T:p.R804W,DYSF:NM_001130984:exon23:c.C2413T:p.R805W,DYSF:NM_001130986:exon23:c.C2413T:p.R805W,DYSF:NM_001130455:exon24:c.C2455T:p.R819W,DYSF:NM_001130978:exon24:c.C2452T:p.R818W,DYSF:NM_001130980:exon24:c.C2503T:p.R835W,DYSF:NM_001130981:exon24:c.C2503T:p.R835W,DYSF:NM_001130983:exon24:c.C2455T:p.R819W,DYSF:NM_001130985:exon24:c.C2506T:p.R836W,DYSF:NM_001130987:exon24:c.C2506T:p.R836W,DYSF:NM_003494:exon24:c.C2452T:p.R818W,DYSF:NM_001130979:exon25:c.C2545T:p.R849W,DYSF:NM_001130982:exon25:c.C2548T:p.R850W	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	558257	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.536	0.167378816963	.	.	0.0002	0	0	0	0	4.495e-05	0	0.0012	0.0001488	23	154602	rs749002214	0.0001	0.0001	8.031e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	2.987e-05	0	0	0	0	0.0002	2.608e-05	0.0003	0.0018	6.569e-05	6.566e-05	6.422e-05	6.723e-05	0.0012	3.516e-05	2.615e-05	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	4.409e-05	0	0.0012	0.019	0.59928	D	0.021	0.58089	D	0.994	0.90584	D	0.764	0.66722	P	0.000049	0.53742	D	0.000000	0.849286	0.35195	D	2.125	0.59049	M	-0.52	0.70717	T	-2.99	0.63901	D	0.648	0.72209	-0.1015	0.80064	T	0.398	0.75045	T	10	0.38280788	0.54320	T	0.167379	0.84576	D	0.536	0.80545	0.581	0.70733	0.798345608628	0.79646	0.640884457908599	0.64023	0.637325117168	0.57480	0.427721142769	0.28897	T	0.69553	0.91186	D	-0.22069	0.17900	T	-0.108797	0.62707	T	0.201194196939468	0.20481	T	0.960404	0.85218	D	0.6509105	0.75413	0.37039867	0.62290	0.7278608	0.79604	0.4918673	0.70607	-8.301	0.64865	D	0.5347221036761354	0.60514	0.156	0.44240	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.151239	0.62272	24.4	0.99917904797258528	0.98518	0.56423	0.30113	D	AEFDBIJ	0.552763	0.56429	D	0.148589235418652	0.48745	3.083053	0.0726120494585545	0.43176	2.624898	0.999944340638594	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.29	0.774	0.17665	0.187000	0.16806	.	.	0.599000	0.40250	0.717000	0.28791	1.000000	0.68203	0.993000	0.69303	0.6306:0.3694:0.0:0.0	12.690	0.56337	476	0.77720	.;.;.;.;Ferlin B-domain|Ferlin B-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	974.83	100	chr2	71564154	.	C	T	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.821;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1265	5	0	1	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V,DYSF:NM_001130986:exon53:c.A6100G:p.I2034V,DYSF:NM_001130455:exon54:c.A6142G:p.I2048V,DYSF:NM_001130977:exon54:c.A6160G:p.I2054V,DYSF:NM_001130980:exon54:c.A6190G:p.I2064V,DYSF:NM_001130984:exon54:c.A6163G:p.I2055V,DYSF:NM_001130985:exon54:c.A6193G:p.I2065V,DYSF:NM_003494:exon54:c.A6139G:p.I2047V,DYSF:NM_001130978:exon55:c.A6202G:p.I2068V,DYSF:NM_001130979:exon55:c.A6232G:p.I2078V,DYSF:NM_001130981:exon55:c.A6253G:p.I2085V,DYSF:NM_001130982:exon55:c.A6235G:p.I2079V,DYSF:NM_001130983:exon55:c.A6205G:p.I2069V,DYSF:NM_001130987:exon55:c.A6256G:p.I2086V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	100253	Miyoshi_myopathy|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2436.83	35	chr2	71682612	.	A	G	2436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.078;DP=383;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.5;SOR=0.73	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1375	5	0	1	0
chr2	73088530	73088530	G	A	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon3:c.C1088T:p.P363L,RAB11FIP5:NM_015470:exon3:c.C1088T:p.P363L	.	419	1097	6	0	0	6	0.00272727	.	.	.	3308540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0202232363663	.	.	0.0002	0	8.661e-05	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs201939228	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0001	0	0	0	0.0033	9.712e-05	0.0003	0.0018	0.0001	0.0001	8.988e-05	0.0002	0.0004	8.165e-05	6.722e-05	0.0001	8.283e-05	2.411e-05	0	0.0003	0	0	0	0.0032	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.02	0.18235	B	0.012	0.16012	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	0.3	0.58755	T	-5.41	0.85176	D	0.574	0.59648	-0.5232	0.67796	T	0.284	0.65567	T	10	0.05217597	0.05212	T	0.020223	0.42769	T	0.215	0.50805	0.267	0.21418	0.612129062911	0.60900	0.49523469877638576	0.49444	0.118568909948	0.13351	0.524407625198	0.42248	T	0.177135	0.85908	T	-0.293328	0.09304	T	-0.21875	0.52857	T	0.219044134020805	0.21416	T	0.766723	0.39447	T	0.33118635	0.55568	0.3176898	0.57742	0.33118635	0.55568	0.3176898	0.57741	-2.625	0.06695	T	.	.	0.101	0.19559	B	.;.	.;.	3.619786	0.51223	23.1	0.99735094467945895	0.83047	0.95398	0.64564	D	AEFBI	0.277068	0.39166	N	-0.14979531714233	0.35243	2.021862	-0.241825825984249	0.30054	1.688906	0.999999941322968	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	4.13	3.24	0.36257	5.886000	0.69487	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0955:0.0:0.9045:0.0	10.811	0.45749	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	1092.83	34	chr2	73088530	.	G	A	1092.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.128;DP=267;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.987;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	5	0	1	0
chr2	73424791	73424791	A	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon5:c.A1126T:p.T376S,ALMS1:NM_015120:exon5:c.A1126T:p.T376S	Alstrom syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	451629	not_specified|not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.00274625887	8.3e-05	.	0.0001	0	0	0	0	3.008e-05	0	0.0008	9.06e-05	14	154602	rs376750978	7.531e-05	7.524e-05	3.678e-05	0.0001	0.0010	6.387e-05	5.944e-05	0.0008	0.0007	0	0	0	0	0	0.0003	2.16e-05	1.657e-05	0.0010	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	9.413e-05	0	1.47e-05	0	0.0002	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.054229	0.22742	N	0.317898	0.99995	0.19072	N	-0.205	0.04094	N	.	.	.	.	.	.	0.039	0.01274	-0.9402	0.42584	T	0.013	0.04985	T	10	0.027503788	0.00895	T	0.002746	0.05665	T	.	.	0.125	0.03095	0.209622950755	0.20551	0.016354824804486426	0.01591	.	.	0.309904307127	0.11892	T	0.005978	0.11649	T	-0.538808	0.00341	T	-0.635891	0.09971	T	0.0271649528585842	0.01567	T	0.356464	0.08103	T	0.024471622	0.01281	0.023144731	0.00330	0.029052114	0.02339	0.0268248	0.00793	-2.782	0.08018	T	.	.	0.127	0.27100	B	.;.;.	.;.;.	-0.351454	0.02399	0.267	0.7596318051776797	0.11279	0.60884	0.31324	D	AEFBI	0.088459	0.17932	N	-1.00628001168059	0.08472	0.3973963	-0.872075787717964	0.12758	0.6581049	0.00222626395422805	0.09245	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.02	1.66	0.23081	1.342000	0.33524	2.714000	0.34259	-0.683000	0.04200	0.949000	0.33028	0.958000	0.29226	0.010000	0.09038	0.778:0.0:0.222:0.0	5.608	0.16669	553	0.71930	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	1496.83	34	chr2	73424791	.	A	T	1496.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.998;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.284;SOR=0.649	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	5	0	1	0
chr2	73451431	73451431	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G4904A:p.S1635N,ALMS1:NM_015120:exon8:c.G4904A:p.S1635N	Alstrom syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00922312022951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	2.988e-05	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	-1.0839	0.06609	T	0.065	0.26737	T	9	0.07424477	0.11323	T	0.009223	0.24225	T	.	.	.	.	0.119812018005	0.11559	0.1003055847631546	0.09961	.	.	0.264569997787	0.05447	T	0.021342	0.16634	T	-0.288608	0.09777	T	-0.652342	0.08791	T	0.140262804248893	0.16298	T	0.458954	0.13262	T	0.03480869	0.03976	0.11166086	0.26935	0.03480869	0.03976	0.11166086	0.26934	-5.287	0.39814	T	.	.	0.132	0.28377	B	.;.;.	.;.;.	0.829147	0.12004	8.563	0.76058867141275666	0.11317	0.11682	0.16794	N	AEFBHCI	0.028749	0.02589	N	-0.570508811631738	0.19845	1.041823	-0.699490673078022	0.16972	0.9004027	0.999737935364925	0.42341	0.651	0.46895	0	0.596877	0.49441	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.12	2.31	0.27816	0.099000	0.15047	-2.845000	0.03303	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2232:0.0:0.7768:0.0	6.361	0.20632	492	0.76569	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1113.83	125	chr2	73451431	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=561;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.945;SOR=0.658	GT:AD:DP:GQ:PL	0/1:55,41:96:99:1124,0,1458	5	0	1	0
chr2	73453279	73453279	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.A6752G:p.D2251G,ALMS1:NM_015120:exon8:c.A6752G:p.D2251G	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	239000	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|not_provided|Monogenic_diabetes	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0052	0.00379393	0.0015	0.0170	0.0006	0	0	6.031e-05	0.0011	0	0.0013907	215	154602	rs28730855	0.0005	0.0005	0.0005	0.0004	0.0162	0.0005	0.0004	0.0151	0.0146	0.0162	0.0009	0	0	0	0.0003	5.396e-05	0.0010	0	0.0047	0.0047	0.0051	0.0042	0.0160	0.0044	0.0043	0.0149	0.0145	0.0160	0	0.0018	0	0	0	0.0034	8.821e-05	0.0057	0	.	.	.	0.295	0.20745	T	.	.	.	.	.	.	0.233199	0.15873	N	0.569323	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.089	0.06854	-1.0266	0.21560	T	0.013	0.05033	T	10	0.00216496	0.00031	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.22604240051935529	0.22519	.	.	0.277617067099	0.07163	T	0.034005	0.23149	T	-0.479262	0.00747	T	-0.447577	0.27964	T	0.00352696834730597	0.00037	T	0.669433	0.27806	T	0.050562628	0.09154	0.06608067	0.13486	0.04059409	0.05823	0.071345836	0.15267	-3.899	0.22287	T	0.14967007702463647	0.17519	0.106	0.19679	B	.;.;.	.;.;.	1.052680	0.14339	10.92	0.95688808925789703	0.27562	0.01878	0.05780	N	AEFBI	0.023047	0.01233	N	-0.904846340366228	0.10727	0.5140811	-0.955407680041731	0.10797	0.5461813	0.899764784329106	0.26059	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.82	-3.55	0.04343	0.057000	0.14157	2.511000	0.33074	0.756000	0.94297	0.000000	0.06391	0.034000	0.21380	0.983000	0.59808	0.3812:0.1436:0.4752:0.0	7.578	0.27117	494	0.76445	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1720.83	133	chr2	73453279	.	A	G	1720.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=541;ExcessHet=0;FS=0.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.509;SOR=0.79	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	5	0	1	0
chr2	73767161	73767161	A	T	exonic	DUSP11	.	nonsynonymous SNV	DUSP11:NM_003584:exon6:c.T682A:p.L228I	.	.	.	.	.	.	.	.	0.1326	0.468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0115955816733	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1180055283	6.86e-07	6.841e-07	0	1.379e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.156	0.24090	T	0.159	0.31527	T	.	.	.	.	.	.	0.152827	0.17910	N	0.559303	0.949606	0.37659	D	.	.	.	-2.02	0.85542	D	-0.94	0.25118	N	0.384	0.42541	-0.4894	0.69030	T	0.401	0.75195	T	9	0.295076	0.47077	T	0.011596	0.29387	T	0.247	0.55478	.	.	0.792038911148	0.79011	0.3651882240138583	0.36432	0.383846054443	0.39699	0.678139686584	0.64002	T	.	.	.	0.000915087	0.51780	T	-0.236462	0.51143	T	0.571289479732513	0.35284	D	0.723828	0.33737	T	0.28087422	0.51133	0.11297718	0.27263	0.28087422	0.51133	0.11297718	0.27263	-7.533	0.57842	D	.	.	0.127	0.27039	B	.	.	3.528763	0.49502	22.8	0.98175391986718796	0.38899	0.75379	0.36904	D	AEFGBHI	0.117582	0.23028	N	-0.0338888540790492	0.40324	2.392829	0.100212040328703	0.44560	2.735407	0.147637198756937	0.17386	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	0.364000	0.20053	4.224000	0.42611	0.731000	0.85647	0.994000	0.38300	1.000000	0.68203	1.000000	0.97212	0.8174:0.0:0.0:0.1826	7.952	0.29180	395	0.83006	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	657.83	61	chr2	73767161	.	A	T	657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.311;SOR=0.794	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1378	5	0	1	0
chr2	79027052	79027052	C	T	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001008387:exon4:c.C214T:p.P72S,REG3G:NM_198448:exon4:c.C214T:p.P72S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00224549870495	7.7e-05	.	0.0002	9.61e-05	0.0003	0	0	0.0003	0.0011	0.0004	0.0002329	36	154602	rs147133557	0.0002	0.0002	0.0001	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.987e-05	0.0006	0.0014	0	1.872e-05	0.0003	9.982e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0014	0.0012	2.405e-05	0	0.0019	0.0026	0	0	0.0068	0.0001	0.0009	0.0002	0.824	0.02928	T	0.53	0.10103	T	0.048	0.22112	B	0.042	0.24114	B	0.425749	0.12813	N	0.704642	1	0.08975	N	1.565	0.39561	L	2.23	0.18083	T	-3.2	0.64710	D	0.091	0.06990	-0.9549	0.40114	T	0.041	0.17742	T	10	0.02315393	0.00598	T	0.002245	0.04260	T	0.093	0.26882	.	.	0.332646915603	0.32870	0.17877598253370122	0.17796	0.0135039036229	0.01299	0.266734719276	0.05719	T	0.014642	0.12428	T	-0.547457	0.00302	T	-0.683611	0.06765	T	0.00890592910144705	0.00111	T	0.586341	0.21412	T	0.05801391	0.11619	0.086168826	0.19945	0.05801391	0.11618	0.086168826	0.19944	-0.951	0.00947	T	.	.	0.157	0.34819	B	.;.	.;.	0.723585	0.10925	7.595	0.77823356600920357	0.12037	0.01269	0.04444	N	AEFI	0.078330	0.15802	N	-0.758868055085046	0.14394	0.7166244	-0.802144101857731	0.14443	0.7547066	1.80544002055677E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	1.8	0.24069	-0.521000	0.06331	-6.608000	0.01352	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.597000	0.31313	0.0:0.6351:0.0:0.3649	5.952	0.18489	979	0.04160	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3642.83	193	chr2	79027052	.	C	T	3642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.734;DP=999;ExcessHet=0;FS=5.133;MLEAC=1;MLEAF=0.083;MQ=59.36;MQRankSum=1.75;QD=11.79;ReadPosRankSum=1.35;SOR=0.536	GT:AD:DP:GQ:PL	0/1:159,150:309:99:3653,0,4103	5	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	214.83	40	chr2	79158731	.	G	T	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=340;ExcessHet=0;FS=12.534;MLEAC=1;MLEAF=0.083;MQ=58.38;MQRankSum=-11.47;QD=1.5;ReadPosRankSum=-4.02;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,16:143:99:0|1:79158731_G_T:225,0,4933:79158731	5	0	1	0
chr2	79158740	79158740	C	G	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.G106C:p.A36P,REG3A:NM_002580:exon3:c.G106C:p.A36P,REG3A:NM_138937:exon3:c.G106C:p.A36P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00119945206927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879246680	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.615e-06	9.867e-05	0	1.355e-05	2.434e-05	0	0	.	.	2.434e-05	0	0	0	0	0	0	0	0	0	0.581	0.05973	T	0.505	0.11004	T	0.0	0.02946	B	0.001	0.04355	B	0.535357	0.11593	N	0.756680	1	0.08975	N	-0.53	0.02533	N	2.42	0.15376	T	2.33	0.00281	N	0.054	0.02759	-0.9463	0.41599	T	0.018	0.07282	T	10	0.027589142	0.00903	T	0.001199	0.01558	T	0.004	0.00165	.	.	0.0716867268079	0.06686	0.33399060644688777	0.33312	0.0611122652635	0.06801	0.238550752401	0.02661	T	0.032509	0.22518	T	-0.424626	0.01599	T	-0.847722	0.00989	T	0.074214801539753	0.09230	T	0.079692	0.00587	T	0.15057418	0.34273	0.08919294	0.20842	0.15057418	0.34272	0.08919294	0.20841	-3.45	0.15738	T	.	.	0.069	0.03336	B	.;.;.	.;.;.	-1.318655	0.00423	0.008	0.77301282109243619	0.11819	0.00151	0.00912	N	AEFGI	0.031644	0.03426	N	-1.79722693943582	0.00552	0.02376501	-1.84703743509883	0.00620	0.02755625	2.8203287188887E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.62	-3.84	0.03976	-1.654000	0.02086	-3.050000	0.03106	-3.544000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0961:0.6064:0.1787:0.1188	6.578	0.21775	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	142.83	40	chr2	79158740	.	C	G	142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.005;DP=312;ExcessHet=0;FS=17.611;MLEAC=1;MLEAF=0.083;MQ=58.35;MQRankSum=-11.11;QD=1.14;ReadPosRankSum=-4.521;SOR=3.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,12:125:99:0|1:79158731_G_T:153,0,4529:79158731	5	0	1	0
chr2	84699621	84699621	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon48:c.C7705T:p.R2569C	.	.	.	.	.	.	.	.	.	.	.	2772013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.474	0.294305621353	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428887330	1.287e-05	1.3e-05	1.834e-05	7.25e-06	2.821e-05	8.04e-06	6.64e-06	8.78e-06	7.11e-06	0	2.821e-05	0	0	2.027e-05	0	1.483e-05	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	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.055	0.86842	M	0.39	0.57419	T	-7.51	0.95074	D	0.739	0.73916	-0.0033	0.82188	T	0.431	0.77251	T	9	0.8739064	0.86670	D	0.294306	0.90670	D	0.474	0.76685	0.671	0.80903	0.661710244528	0.65887	0.7677745702590328	0.76726	0.527592878599	0.50365	0.686414718628	0.65190	T	0.150629	0.49020	T	0.20723	0.74570	D	0.0598947	0.74238	D	0.998754143714905	0.95068	D	0.956704	0.83523	D	0.61262167	0.73368	0.5273359	0.72691	0.61262167	0.73369	0.5273359	0.72691	-10.052	0.74223	D	.	.	0.727	0.74089	P	.;.	.;.	5.065317	0.84448	28.3	0.99928633002027634	0.99222	0.93262	0.57749	D	AEFI	0.634606	0.61442	D	0.803191964448434	0.86304	8.842872	0.740237782556274	0.85425	8.576995	0.999750297400265	0.42595	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	3.928000	0.56220	4.915000	0.45989	-0.175000	0.10903	0.998000	0.41325	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.908	0.88840	599	0.68140	Dynein heavy chain, AAA module D4|AAA+ ATPase domain;Dynein heavy chain, AAA module D4|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.08333	677.83	59	chr2	84699621	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=231;ExcessHet=0;FS=0.982;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-1.619;SOR=0.559	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1207	5	0	1	0
chr2	84722706	84722706	C	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon60:c.C9874T:p.R3292C	.	423	1092	7	0	0	7	0.00319489	.	.	.	432463	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.28382971536	.	.	0.0004	0	0	0	0	0.0002	0	0.0009	0.0001164	18	154602	rs770893158	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0005	0	0	0	0	4.06e-05	0.0012	0.0002	0.0004	0.0007	9.2e-05	9.194e-05	0.0001	6.725e-05	0.0004	5.528e-05	4.365e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.953	0.69275	D	0.001543	0.38671	N	0.160398	0.999993	0.58761	D	3.51	0.92865	H	0.52	0.55266	T	-6.53	0.91741	D	0.681	0.68777	0.009	0.82429	D	0.428	0.77094	T	10	0.65926766	0.70057	D	0.28383	0.90326	D	0.362	0.68230	.	.	0.627816896369	0.62478	0.6768566308343432	0.67624	0.517718159117	0.49631	0.583673417568	0.50603	T	0.288237	0.66102	T	-0.131268	0.31292	T	-0.0431174	0.67491	D	0.516423650269936	0.33233	D	0.973403	0.90433	D	0.38980687	0.60018	0.31246132	0.57248	0.38980687	0.60018	0.31246132	0.57247	-9.913	0.73389	D	.	.	0.476	0.63452	A	.;.	.;.	4.735529	0.76313	26.5	0.99888357427625118	0.96281	0.79798	0.39614	D	AEFI	0.434664	0.49562	N	0.539616074054712	0.69453	5.358932	0.399807077332965	0.61554	4.35702	9.28916993236469E-4	0.08013	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	4.82	0.61641	1.283000	0.32843	5.798000	0.49917	0.581000	0.30040	0.833000	0.30177	1.000000	0.68203	0.980000	0.58198	0.3239:0.6761:0.0:0.0	11.574	0.50109	624	0.65661	.;.	.	.	.	.	.	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	0.000978	0.000000	0.000000	0.000000	0.000000	0.000000	0.005155	0.000000	0.08333	747.83	60	chr2	84722706	.	C	T	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.79;DP=239;ExcessHet=0;FS=0.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.642;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1085	5	0	1	0
chr2	85326932	85326932	G	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.C800A:p.S267Y,TGOLN2:NM_001368095:exon2:c.C800A:p.S267Y,TGOLN2:NM_001368096:exon2:c.C800A:p.S267Y,TGOLN2:NM_006464:exon2:c.C800A:p.S267Y	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00565292153595	0.0032	0.00319489	0.0048	0.0010	0.0057	0	0.0095	0.0062	0.0045	0.0014	0.0042755	661	154602	rs145218072	0.0049	0.0049	0.0050	0.0048	0.0061	0.0048	0.0048	0.0055	0.0053	0.0010	0.0061	0.0042	0	0.0087	0.0059	0.0052	0.0058	0.0018	0.0043	0.0043	0.0037	0.0049	0.0065	0.0040	0.0039	0.0055	0.0051	0.0014	0.0066	0.0065	0.0043	0	0.0110	0.0068	0.0050	0.0066	0.0010	0.002	0.72154	D	0.022	0.59732	D	0.994	0.66517	D	0.906	0.64351	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.65	0.12676	T	-3.48	0.69950	D	0.151	0.28965	-1.0749	0.08369	T	0.040	0.17191	T	9	0.0033238232	0.00057	T	0.005653	0.14621	T	0.019	0.03383	.	.	0.37281450598	0.36888	0.048835434568265536	0.04826	.	.	0.283387959003	0.07970	T	0.184947	0.53777	T	-0.557835	0.00261	T	-0.570062	0.15444	T	0.0397295307880315	0.03642	T	0.594241	0.21993	T	0.1014517	0.23964	0.13045268	0.31346	0.1014517	0.23963	0.13045268	0.31345	-7.26	0.55911	T	.	.	0.242	0.48746	B	.;.;.;.;.	.;.;.;.;.	2.627694	0.34164	19.55	0.9889654910202933	0.48109	0.05494	0.11380	N	ALL	0.067764	0.13336	N	-0.250207697878437	0.31094	1.740208	-0.490339760362394	0.22419	1.21756	0.999999999998003	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.86	0.869	0.18233	1.281000	0.32819	5.500000	0.48770	0.665000	0.62972	0.010000	0.18352	0.902000	0.27988	0.060000	0.15972	0.2129:0.0:0.6057:0.1814	4.486	0.11201	894	0.26265	.;.;.;.;.	.	.	.	.	rs145218072	Likely benign	0	0	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	0.005539	0.000000	0.005435	0.000000	0.000000	0.008621	0.009146	0.003788	0.08333	2612.83	35	chr2	85326932	.	G	T	2612.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.22;DP=547;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.166;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,70:165:99:0|1:85326932_G_T:2623,0,3701:85326932	5	0	1	0
chr2	85695329	85695329	T	C	exonic	GNLY	.	nonsynonymous SNV	GNLY:NM_006433:exon2:c.T62C:p.F21S,GNLY:NM_001302758:exon3:c.T143C:p.F48S,GNLY:NM_012483:exon3:c.T17C:p.F6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.00386999336191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.55759	D	0.981	0.59675	D	0.533	0.48638	P	0.125553	0.18838	U	0.365534	0.999986	0.19238	N	1.7	0.43825	L	0.39	0.57419	T	-3.57	0.70793	D	0.469	0.60664	-1.0035	0.28903	T	0.115	0.40831	T	10	0.53709155	0.63509	D	0.00387	0.09086	T	0.253	0.56294	0.608	0.74063	0.693035171246	0.69039	0.711471985047521	0.71089	0.0426429251693	0.04603	0.533835291862	0.43576	T	0.095512	0.39637	T	0.034932	0.56378	T	-0.187599	0.55814	T	0.71812915802002	0.41605	D	0.356864	0.08118	T	0.21446832	0.43854	0.23033229	0.48132	0.21446832	0.43854	0.23033229	0.48131	-1.005	0.03436	T	.	.	0.231	0.56838	B	.;.;.	.;.;.	1.240366	0.16358	12.49	0.98854921760611514	0.47356	0.15029	0.18709	N	AEFDGBI	0.114383	0.22532	N	-0.226392818670713	0.32053	1.80369	-0.344957819211083	0.26665	1.474347	0.999847847315537	0.43971	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.64	1.64	0.22949	1.489000	0.35170	0.159000	0.15383	0.480000	0.22105	0.149000	0.23640	0.002000	0.18203	0.010000	0.09038	0.0:0.0:0.0:1.0	5.414	0.15662	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	992.83	52	chr2	85695329	.	T	C	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=227;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.08;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1133:.	5	0	1	0
chr2	85695330	85695330	C	G	exonic	GNLY	.	nonsynonymous SNV	GNLY:NM_006433:exon2:c.C63G:p.F21L,GNLY:NM_001302758:exon3:c.C144G:p.F48L,GNLY:NM_012483:exon3:c.C18G:p.F6L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00314241665771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.138	0.33780	T	0.788	0.44546	P	0.11	0.31460	B	0.125553	0.18838	U	0.365534	0.999998	0.08975	N	1.7	0.43825	L	0.53	0.55090	T	-2.83	0.59710	D	0.321	0.38027	-1.0139	0.25688	T	0.071	0.28773	T	10	0.17275548	0.32065	T	0.003142	0.06845	T	0.060	0.17295	0.493	0.58048	0.470648230714	0.46691	0.42798236470309803	0.42715	0.0211775165333	0.02094	0.554618418217	0.46508	T	0.04725	0.27667	T	-0.129324	0.31606	T	-0.423542	0.30670	T	0.171746110409597	0.18698	T	0.331767	0.06954	T	0.108832285	0.25731	0.089580216	0.20955	0.108832285	0.25730	0.089580216	0.20954	-1.476	0.04859	T	.	.	0.681	0.76474	P	.;.;.	.;.;.	0.467381	0.08370	5.123	0.97771147671713432	0.35869	0.03407	0.08526	N	AEFDGBI	0.102297	0.20524	N	-0.604341352098056	0.18812	0.9797433	-0.701203514883203	0.16931	0.8979489	0.999574215009926	0.40495	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.64	0.36	0.15332	0.024000	0.13447	0.122000	0.14930	0.434000	0.20985	0.112000	0.23030	0.004000	0.18990	0.011000	0.09372	0.0:0.3861:0.0:0.6139	3.053	0.05804	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	992.83	52	chr2	85695330	.	C	G	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.021;DP=227;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.19;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1133:.	5	0	1	0
chr2	86106303	86106303	C	A	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon1:c.C56A:p.P19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00822400668741	.	.	8.375e-06	0	8.657e-05	0	0	0	0	0	6.5e-06	1	154602	rs748198617	3.421e-06	3.42e-06	4.084e-06	2.75e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.384	0.56640	T	0.028	0.19712	B	0.01	0.14941	B	0.499768	0.11963	N	0.759465	1	0.08975	N	1.355	0.33814	L	1.23	0.50976	T	-0.21	0.11008	N	0.395	0.45520	-0.9864	0.33494	T	0.099	0.36805	T	10	0.05172518	0.05096	T	0.008224	0.21776	T	0.075	0.21907	0.186	0.09517	0.126345400529	0.12197	0.26489497809758283	0.26402	0.0508776798481	0.05589	0.365710318089	0.20215	T	0.007099	0.36062	T	-0.210125	0.19360	T	-0.442752	0.28502	T	0.0332463242486539	0.02511	T	0.523848	0.17633	T	0.026903333	0.01807	0.04862283	0.07261	0.026903333	0.01807	0.04862283	0.07261	-2.979	0.09956	T	.	.	0.095	0.34272	B	.;.;.	.;.;.	0.681591	0.10498	7.215	0.88928418117653119	0.18369	0.16414	0.19378	N	ALL	0.079274	0.16008	N	-0.991486350489204	0.08784	0.4132307	-1.04579287266976	0.08795	0.4341845	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.0	0.691	0.17208	0.407000	0.20770	-2.110000	0.04198	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1676:0.4093:0.3268:0.0963	3.208	0.06275	576	0.70006	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	849.83	35	chr2	86106303	.	C	A	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.445;DP=233;ExcessHet=0;FS=8.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.68;SOR=0.146	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr2	88027814	88027814	C	T	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750A:p.M250I,KRCC1:NM_016618:exon4:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00360557328611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.2972219	0.47284	T	0.003606	0.08247	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182418173270626	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.0289227	0.55579	T	-0.196231	0.55004	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.581203	0.50486	22.9	0.99264800120860308	0.57356	0.66198	0.32995	D	AEFDBI	0.185647	0.31297	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	109.26	58	chr2	88027814	.	C	T	109.26	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.175;DP=308;ExcessHet=0;FS=57.113;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=-1.001;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:12:.:.:0,12,819:.	2	0	1	3
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1178.03	33	chr2	94876587	.	C	A	1178.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.141;DP=783;ExcessHet=1.383;FS=13.178;MLEAC=3;MLEAF=0.25;MQ=58.15;MQRankSum=-15.1;QD=1.77;ReadPosRankSum=-2.696;SOR=2.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,25:230:99:0|1:94876587_C_A:433,0,8456:94876587	3	0	3	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	196.02	224	chr2	94876599	.	C	T	196.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.786;DP=1036;ExcessHet=1.383;FS=11.144;MLEAC=3;MLEAF=0.25;MQ=57.94;MQRankSum=-14;QD=0.26;ReadPosRankSum=-1.332;SOR=1.929	GT:AD:DP:GQ:PL	0/1:226,26:252:99:121,0,9373	3	0	3	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,53:299:99:0|1:94876587_C_A:1485,0,10170:94876587	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,65:319:99:0|1:94876587_C_A:1965,0,10455:94876587	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,84:371:99:0|1:94876671_A_G:2630,0,11728:94876671	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,84:374:99:0|1:94876671_A_G:2621,0,11796:94876671	0	0	6	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.3333	4172.96	338	chr2	94876731	.	C	T	4172.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.14;DP=1716;ExcessHet=3.1439;FS=6.452;MLEAC=4;MLEAF=0.333;MQ=57.61;MQRankSum=-18.2;QD=3.01;ReadPosRankSum=0.057;SOR=1.338	GT:AD:DP:GQ:PL	0/1:279,57:336:99:1262,0,7443	2	0	4	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1251.18	339	chr2	94876737	.	C	A	1251.18	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.465;DP=1192;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.27;MQRankSum=-14.24;QD=1.74;ReadPosRankSum=-1.795;SOR=1.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:295,38:333:99:.:.:129,0,12141:.	4	0	2	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1911.06	335	chr2	94876740	.	A	C	1911.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.83;DP=1191;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.29;MQRankSum=-14.55;QD=2.68;ReadPosRankSum=-2.111;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:291,38:331:99:.:.:789,0,11995:.	4	0	2	0
chr2	95025851	95025851	C	T	exonic	MAL	.	nonsynonymous SNV	MAL:NM_002371:exon1:c.C59T:p.T20I,MAL:NM_022438:exon1:c.C59T:p.T20I,MAL:NM_022439:exon1:c.C59T:p.T20I,MAL:NM_022440:exon1:c.C59T:p.T20I	.	388	1109	22	3	0	28	0.0124666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0076	0.00199681	0.0162	0.0018	0.0156	0	0	0.0297	0.0195	0.0012	0.0052134	806	154602	rs145146615	0.0082	0.0082	0.0083	0.0081	0.0088	0.0081	0.0080	0.0087	0.0086	0.0011	0.0056	0.0426	0	0.0003	0.0070	0.0088	0.0092	0.0010	0.0070	0.0070	0.0074	0.0066	0.0095	0.0066	0.0065	0.0089	0.0086	0.0018	0	0.0089	0.0495	0	0.0002	0.0205	0.0095	0.0099	0.0014	0.485	0.24277	T	0.495	0.32249	T	0.004	0.12183	B	0.015	0.17295	B	0.026871	0.25848	N	0.460133	0.999977	0.18612	N	1.57	0.39626	L	0.93	0.44065	T	-1.92	0.52938	N	0.151	0.30461	-1.0551	0.13013	T	0.044	0.19111	T	10	0.0031993985	0.00054	T	.	.	.	0.054	0.15330	.	.	0.0934897674506	0.08844	0.3817801171766306	0.38093	0.174444806428	0.19643	0.50339615345	0.39301	T	0.180979	0.53250	T	-0.6756	0.00051	T	-0.73598	0.04061	T	0.0084325555868	0.00102	T	0.676232	0.28664	T	0.10449589	0.24704	0.06650184	0.13630	0.10449589	0.24704	0.06650184	0.13629	-5.589	0.50379	T	.	.	0.116	0.27463	B	.;.;.;.	.;.;.;.	2.089621	0.26580	17.17	0.99236888052641958	0.56405	0.02767	0.07463	N	AEFDBHCI	0.036616	0.04908	N	-0.922860901612739	0.10309	0.4919917	-0.932565642264624	0.11328	0.5764469	0.999991458896869	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.96	-0.348	0.11987	-0.487000	0.06585	-0.715000	0.07732	0.520000	0.23804	0.001000	0.13787	0.000000	0.08366	0.977000	0.56843	0.0:0.4648:0.1802:0.3549	3.863	0.08512	.	.	Marvel domain;.;.;.	.	.	.	.	rs145146615	Likely benign	0	0	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	0.008621	0.026316	0.006849	0.008876	0.000000	0.000000	0.003067	0.007576	0.08333	839.83	33	chr2	95025851	.	C	T	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=255;ExcessHet=0;FS=5.999;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-1.717;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1038	5	0	1	0
chr2	95048062	95048062	C	G	exonic	MAL	.	nonsynonymous SNV	MAL:NM_002371:exon2:c.C197G:p.T66S,MAL:NM_022438:exon2:c.C197G:p.T66S	.	421	1098	3	0	0	3	0.00136426	.	.	.	2757330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.016528661052	0.0002	0.000199681	0.0002	9.615e-05	0	0	0	0.0003	0	6.057e-05	0.0001294	20	154602	rs201902217	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	0	0.0001	0	0	0	0.0014	0.0002	0.0002	0.0001	8.542e-05	8.531e-05	7.712e-05	9.41e-05	0.0002	4.957e-05	3.963e-05	6.806e-05	5.089e-05	2.408e-05	0	0	0	0	0	0.0068	0.0001	0	0.0002	0.549	0.07354	T	0.856	0.07015	T	0.819	0.45682	P	0.391	0.44178	B	0.000000	0.84330	D	0.044115	0.999978	0.81001	D	0.975	0.24501	L	1.84	0.44856	T	-1.64	0.45949	N	0.313	0.35301	-1.0939	0.04914	T	0.093	0.35444	T	10	0.12164748	0.23064	T	0.016529	0.37830	T	0.154	0.40340	0.682	0.81982	0.300371490279	0.29641	0.7279593698297512	0.72739	0.318228428824	0.34054	0.501561284065	0.39046	T	0.180519	0.53189	T	-0.284222	0.10226	T	-0.366606	0.37285	T	0.069131822637587	0.08529	T	0.645335	0.25688	T	0.17148471	0.37784	0.25381687	0.51036	0.17148471	0.37784	0.25381687	0.51035	-4.423	0.38388	T	.	.	0.215	0.52026	B	.;.	.;.	2.685249	0.35042	19.79	0.98981421950978399	0.49740	0.96828	0.71158	D	AEFBCI	0.828031	0.74721	D	0.252426296815042	0.53758	3.543437	0.357485993091753	0.58960	4.070004	0.999999999978946	0.74766	0.50712	0.20391	0	0.658105	0.61773	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	7.232000	0.77582	7.593000	0.61311	0.596000	0.33519	0.927000	0.32177	1.000000	0.68203	0.537000	0.29868	0.0:1.0:0.0:0.0	15.496	0.75386	.	.	Marvel domain|Marvel 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	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	713.83	37	chr2	95048062	.	C	G	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.167;DP=262;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-0.317;SOR=0.811	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1316	5	0	1	0
chr2	95482590	95482590	G	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon2:c.C125T:p.S42L	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0027	0	0	0.0002	0	0	0	0.0165	0.0010758	28	26028	rs369206903	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0008	0.0138	0.0135	2.988e-05	0	0	5.038e-05	0	0.0002	1.079e-05	0.0010	0.0145	0.0005	0.0005	0.0002	0.0008	0.0155	0.0004	0.0004	0.0126	0.0116	2.415e-05	0	0	0	0	0	0	1.472e-05	0	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.015	0.01143	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004539311	0.00094	T	.	.	.	.	.	.	.	.	.	0.1850377407593398	0.18421	.	.	0.361660897732	0.19628	T	0.005367	0.04821	T	.	.	.	.	.	.	.	.	.	0.110689	0.00829	T	0.092126064	0.21605	0.23118289	0.48243	0.092126064	0.21604	0.23118289	0.48242	-9.051	0.68025	D	.	.	0.126	0.26794	B	.;.	.;.	0.487989	0.08571	5.339	0.79079095027906421	0.12581	0.00293	0.01568	N	AEFI	.	.	.	.	.	.	.	.	.	1.12173179916875E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0961982	0.21574	1.93	-0.353	0.11969	-0.190000	0.09612	-20.000000	0.00162	0.371000	0.20270	0.008000	0.17931	0.000000	0.08366	0.020000	0.11549	0.0:0.3033:0.4961:0.2005	5.456	0.15888	489	0.76795	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.83	35	chr2	95482590	.	G	A	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.652;DP=295;ExcessHet=0;FS=0.699;MLEAC=1;MLEAF=0.083;MQ=38.21;MQRankSum=-0.695;QD=11.23;ReadPosRankSum=-0.348;SOR=0.799	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:135,47:182:99:1113,0,3473	0	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	669.03	194	chr2	95855406	.	C	G	669.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.36;DP=1088;ExcessHet=1.383;FS=9.024;MLEAC=3;MLEAF=0.25;MQ=54.13;MQRankSum=-6.884;QD=1.17;ReadPosRankSum=-2.638;SOR=1.47	GT:AD:DP:GQ:PL	0/1:186,22:208:99:121,0,5258	3	0	3	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:122,107:229:99:2560,0,3312	0	0	6	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:120,60:180:99:1575,0,3396	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	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	.	.	.	.	.	Likely benign	0	0	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	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:165,24:189:99:333,0,6375	1	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:131,53:184:99:1351,0,3739	0	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	3009.96	69	chr2	95859895	.	T	C	3009.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.169;DP=479;ExcessHet=3.1439;FS=13.078;MLEAC=4;MLEAF=0.333;MQ=57.21;MQRankSum=-0.682;QD=9.84;ReadPosRankSum=-0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,104,1800	2	0	4	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	261.79	75	chr2	95859918	.	ATTTC	A	261.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.391;DP=567;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=-4.352;QD=2.52;ReadPosRankSum=0.943;SOR=0.558	GT:AD:DP:GQ:PL	0/1:91,13:104:99:272,0,3729	5	0	1	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,34:124:99:0|1:95859969_A_AT:1152,0,3656:95859969	0	0	6	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,34:125:99:0|1:95859969_A_AT:1149,0,3687:95859969	0	0	6	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,35:126:99:0|1:95859969_A_AT:1191,0,3684:95859969	0	0	6	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:92,34:126:99:1152,0,2312	0	0	6	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,30:120:99:0|1:95860002_T_A:989,0,3638:95860002	0	0	6	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,31:120:99:0|1:95860002_T_A:1034,0,3626:95860002	0	0	6	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,30:114:99:0|1:95860020_G_A:1007,0,3415:95860020	0	0	6	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,27:111:99:0|1:95860020_G_A:881,0,3425:95860020	0	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,20:83:99:.:.:646,0,1675:.	0	0	6	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,19:100:99:0|1:95927222_G_GAT:554,0,3344:95927222	0	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,31:120:99:0|1:95927222_G_GAT:1034,0,3644:95927222	0	0	6	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,36:126:99:0|1:95927222_G_GAT:1241,0,3671:95927222	0	0	6	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,56:167:99:0|1:95927222_G_GAT:2017,0,4492:95927222	0	0	6	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,70:189:99:0|1:95927222_G_GAT:2550,0,4786:95927222	0	0	6	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,72:189:99:0|1:95927222_G_GAT:2600,0,4696:95927222	0	0	6	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,48:146:99:0|1:95929092_T_C:1655,0,3950:95929092	0	0	6	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,57:169:99:0|1:95929092_T_C:2056,0,4531:95929092	0	0	6	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,75:195:99:0|1:95929092_T_C:2788,0,4813:95929092	0	0	6	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,79:200:99:0|1:95929092_T_C:2953,0,4843:95929092	0	0	6	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,81:202:99:.:.:3025,0,4851:.	0	0	6	0
chr2	96115641	96115641	G	A	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.C509T:p.A170V	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00866196103579	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001811	28	154602	rs564024418	7.663e-05	7.661e-05	3.676e-05	0.0001	0.0011	6.492e-05	6.071e-05	0.0010	0.0009	0	0	3.827e-05	0	0	0.0002	8.994e-07	0.0002	0.0011	3.938e-05	3.936e-05	3.853e-05	4.026e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.599	0.07972	T	0.032	0.20242	B	0.069	0.27757	B	.	.	.	.	0.864532	0.35448	D	2.165	0.60562	M	.	.	.	.	.	.	0.33	0.37093	-0.3621	0.73201	T	0.326	0.69401	T	9	0.03198403	0.01341	T	0.008662	0.22878	T	.	.	0.34	0.33141	0.571693661435	0.56835	0.6216975647825954	0.62102	.	.	0.440917372704	0.30702	T	0.191899	0.54689	T	-0.35496	0.04424	T	-0.312731	0.43365	T	0.083543016442049	0.10434	T	0.79582	0.43907	T	0.19779383	0.41658	0.26980498	0.52865	0.19779383	0.41658	0.26980498	0.52864	-7.254	0.55868	T	.	.	0.128	0.27252	B	.	.	3.179621	0.43155	21.7	0.99893215561834503	0.96666	0.93740	0.59056	D	AEFDGBI	0.784504	0.71517	D	0.0263921881927773	0.43058	2.606237	0.151096067095073	0.47200	2.953851	0.999999955092227	0.74766	0.635344	0.42169	0	0.547309	0.14657	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	4.92	4.92	0.64147	1.750000	0.37956	8.650000	0.77929	-0.108000	0.15293	0.646000	0.28137	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	15.718	0.77447	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2480.83	177	chr2	96115641	.	G	A	2480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.268;DP=380;ExcessHet=0;FS=2.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.25;SOR=0.525	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.023666	0.015152	0.027174	0.043860	0.000000	0.034483	0.009146	0.015152	0.08333	1086.83	35	chr2	96842402	.	C	T	1086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=246;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.864;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1043	5	0	1	0
chr2	97118138	97118138	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon2:c.T272C:p.L91P,ANKRD36:NM_198555:exon2:c.T272C:p.L91P	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	.	8.5e-05	0.0109824	0.0200	0	0.0018	0.0012	0	0	0.0039	0.0588	0.0028047	73	26028	rs370308910	0.0035	0.0036	0.0019	0.0051	0.0575	0.0034	0.0034	0.0561	0.0555	0.0001	0.0002	0	0.0002	0	0.0014	5.245e-05	0.0044	0.0575	0.0019	0.0020	0.0011	0.0028	0.0602	0.0018	0.0017	0.0545	0.0523	4.815e-05	0	6.561e-05	0	0.0002	0	0	5.883e-05	0	0.0602	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.948	0.68536	D	0.305571	0.14523	N	0.554125	0.993027	0.41813	D	0.705	0.18577	N	-0.1	0.64264	T	-3.35	0.66436	D	0.681	0.75559	-0.6937	0.60735	T	0.240	0.60774	T	10	0.005808383	0.00130	T	.	.	.	0.356	0.67691	.	.	0.480123561213	0.47641	.	.	.	.	0.868635416031	0.92373	D	0.028298	0.20529	T	-0.336724	0.05618	T	-0.215478	0.53172	T	0.0650473898335353	0.07937	T	0.573543	0.20534	T	0.5517775	0.70054	0.51022047	0.71696	0.5517775	0.70055	0.51022047	0.71697	-10.445	0.76531	D	.	.	0.266	0.70767	B	.;.;.;.	.;.;.;.	2.858005	0.37752	20.6	0.98801269973494266	0.46461	0.60759	0.31288	D	AEFBI	0.274415	0.38960	N	-0.180928729133569	0.33929	1.930624	-0.381348690577065	0.25553	1.405975	2.15883818205734E-5	0.03498	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	1.4	0.21393	4.653000	0.61156	1.969000	0.29978	0.316000	0.19262	0.987000	0.36337	0.033000	0.21346	0.013000	0.09966	0.0:0.0:0.0:1.0	4.956	0.13390	224	0.91330	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	.	.	.	.	.	Likely benign	0	0	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	0.008602	0.000000	0.000000	0.008197	0.000000	0.000000	0.000000	0.030769	0.08333	1841.83	35	chr2	97118138	.	T	C	1841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.033;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=47.39;MQRankSum=-6.01;QD=10.12;ReadPosRankSum=0.325;SOR=0.676	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	0
chr2	97142769	97142769	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon8:c.A835G:p.S279G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00102314120254	.	.	2.732e-05	0	0	0	0	5.109e-05	0	0	1.29e-05	2	154602	rs745451855	2.373e-05	2.599e-05	1.801e-05	2.953e-05	0.0007	1.708e-05	1.507e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.73e-05	8.419e-05	7.19e-05	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.122	0.35710	T	0.618	0.39878	P	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.1	0.19990	T	-0.95	0.25332	N	0.183	0.24510	-1.0284	0.20973	T	0.020	0.08220	T	9	0.08046433	0.13063	T	0.001023	0.01120	T	0.018	0.03083	0.241	0.17371	0.0297737177859	0.01360	.	.	.	.	0.640867352486	0.58687	T	0.002524	0.01914	T	-0.328626	0.06215	T	-0.709825	0.05304	T	0.0287923263551699	0.01806	T	0.380662	0.09189	T	0.08965935	0.20956	0.0714744	0.15310	0.08965935	0.20956	0.0714744	0.15310	-9.486	0.70772	D	.	.	0.139	0.32030	B	.;.	.;.	1.379562	0.17910	13.44	0.91501364842959665	0.20775	0.00136	0.00836	N	AEFBI	0.015869	0.00324	N	-1.09502208555681	0.06734	0.3108619	-1.25475638261865	0.05061	0.2402587	1.74714276017243E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.322989	0.05693	1	.	.	1.38	-1.29	0.08805	-1.026000	0.03707	-1.007000	0.06626	0.372000	0.20277	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5244:0.0:0.4756:0.0	4.247	0.10127	230	0.91032	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	961.83	37	chr2	97142769	.	A	G	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.153;DP=479;ExcessHet=0;FS=0.894;MLEAC=1;MLEAF=0.083;MQ=57.8;MQRankSum=2.76;QD=11.87;ReadPosRankSum=-0.319;SOR=0.516	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	5	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,18:107:99:1|0:97185332_A_G:488,0,3662:97185332	1	0	5	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:1|0:97185332_A_G:476,0,3830:97185332	1	0	5	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:1|0:97185332_A_G:476,0,3851:97185332	1	0	5	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	696.25	102	chr2	97185345	.	GTAAT	G	696.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=635;ExcessHet=3.1439;FS=0.93;MLEAC=4;MLEAF=0.333;MQ=46.41;MQRankSum=-3.55;QD=1.71;ReadPosRankSum=2.06;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,19:117:99:1|0:97185332_A_G:503,0,4058:97185332	2	0	4	0
chr2	97187197	97187197	G	T	splicing	ANKRD36	NM_001354587:exon31:c.2042-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.638e-05	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs752686197	7.821e-05	7.867e-05	6.007e-05	9.653e-05	0.0012	6.618e-05	6.159e-05	0.0005	0.0005	0	2.246e-05	0	0	0	0.0012	4.321e-05	6.66e-05	0.0007	1.318e-05	1.314e-05	1.287e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987828	0.24476	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.422846	0.01641	T	-0.845165	0.01024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.633587	0.51480	23.1	0.71472587123277698	0.09641	0.19653	0.20744	N	AEFI	.	.	.	0.252391704153505	0.53756	3.543268	-0.148314293614632	0.33474	1.915096	1.91562431560172E-5	0.02871	0.088506	0.02282	0	0.097471	0.02872	0	0.121303	0.03266	0	0.088406	0.02457	0	0.0865931	0.19698	1.19	1.19	0.20120	2.301000	0.43289	4.731000	0.44554	0.320000	0.19365	0.327000	0.25564	0.999000	0.35428	0.004000	0.06068	0.0:0.0:1.0:0.0	5.804	0.17693	214	0.91692	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	198.83	36	chr2	97187197	.	G	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.875;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-0.543;QD=5.68;ReadPosRankSum=0.557;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1270	5	0	1	0
chr2	97243866	97243870	AAAAG	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon70:c.4328_4332del:p.R1446Kfs*3	.	606	915	0	1	0	2	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0119808	0.0014	0.0001	0	0.0230	0	1.986e-05	0	0.0003	0.0023052	60	26028	rs202082571	0.0014	0.0015	0.0015	0.0014	0.0493	0.0014	0.0014	0.0474	0.0467	6.068e-05	0	0	0.0493	0	0.0002	1.892e-05	0.0016	0.0010	0.0021	0.0023	0.0022	0.0021	0.0597	0.0019	0.0019	0.0540	0.0518	0.0004	0	0.0001	0	0.0597	0	0	2.956e-05	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	981.22	35	chr2	97243865	.	AAAAAG	A	981.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.014;DP=203;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=41.1;MQRankSum=-2.676;QD=14.65;ReadPosRankSum=-0.435;SOR=0.484	GT:AD:DP:GQ:PL	0/1:40,27:67:99:991,0,1564	5	0	1	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	88.71	88	chr2	97243982	.	A	G	88.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.82;DP=317;ExcessHet=0;FS=6.619;MLEAC=1;MLEAF=0.1;MQ=37.4;MQRankSum=-0.649;QD=0.87;ReadPosRankSum=-0.484;SOR=1.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:98:0|1:97243981_C_T:98,0,3878:97243981	4	0	1	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	112.72	88	chr2	97243989	.	C	T	112.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0;DP=315;ExcessHet=0.4139;FS=9.03;MLEAC=2;MLEAF=0.2;MQ=37.3;MQRankSum=-0.597;QD=0.83;ReadPosRankSum=0.354;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,9:98:99:0|1:97243981_C_T:110,0,3710:97243981	3	0	2	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,55:143:99:0|1:97513219_T_C:2045,0,3530:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,56:146:99:0|1:97513219_T_C:2081,0,3611:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2216,0,4010:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2215,0,4031:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2215,0,4031:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,65:168:99:0|1:97513268_C_T:2419,0,4129:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,65:169:99:0|1:97513268_C_T:2416,0,4161:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,65:169:99:0|1:97513268_C_T:2416,0,4161:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,65:168:99:0|1:97513268_C_T:2399,0,4119:97513268	0	0	6	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:61,29:90:99:705,0,1590	0	0	6	0
chr2	97532378	97532378	T	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon35:c.A2198C:p.Q733P	.	851	661	4	6	0	16	0.0119581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0063	0	0.0033	0	0	0.0104	0.0263	0.0061	0.000194	30	154602	rs200165552	0.0039	0.0032	0.0036	0.0041	0.0432	0.0037	0.0037	0.0366	0.0341	0.0021	0.0028	0.0183	0	0	0.0432	0.0033	0.0078	0.0046	0.0034	0.0034	0.0034	0.0035	0.0048	0.0031	0.0030	0.0042	0.0040	0.0007	0	0.0044	0.0197	0	0	0.0211	0.0048	0.0076	0.0041	.	.	.	0.029	0.54541	D	0.797	0.44809	P	0.064	0.27215	B	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.047	0.07398	.	.	.	.	.	.	.	0.0049084425	0.00105	T	.	.	.	.	.	.	.	0.29132392195	0.28731	0.01527620853014781	0.01483	.	.	0.608801245689	0.54146	T	0.005835	0.05277	T	-0.0895418	0.38151	T	-0.366397	0.37311	T	.	.	.	0.522848	0.17479	T	0.12447194	0.29203	0.23109838	0.48231	0.12447194	0.29203	0.23109838	0.48230	-3.71	0.19466	T	.	.	0.135	0.32661	B	.;.;.	.;.;.	0.951506	0.13275	9.778	0.68154009143421568	0.08571	0.00176	0.01036	N	AEFI	.	.	.	.	.	.	.	.	.	7.73258317692177E-6	0.01202	0.262962	0.04601	0	0.195528	0.04277	0	0.183335	0.04453	0	0.330827	0.05736	0	0.081692	0.18706	1.39	-2.79	0.05494	0.141000	0.15897	-0.146000	0.11468	0.297000	0.18867	0.358000	0.25825	0.000000	0.08366	0.234000	0.22842	0.2819:0.0:0.4823:0.2358	2.990	0.05617	270	0.89404	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045627	0.056818	0.045662	0.113636	0.000000	0.088235	0.000000	0.010870	0.08333	444.85	25	chr2	97532378	.	T	G	444.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.772;DP=91;ExcessHet=0;FS=1.721;MLEAC=1;MLEAF=0.083;MQ=40.78;MQRankSum=0.153;QD=17.79;ReadPosRankSum=-2.506;SOR=0.518	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,213	5	0	1	0
chr2	97547720	97547720	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon21:c.C1489A:p.Q497K	.	655	866	0	1	0	2	0.0011534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0101837	0.0010	0	0	0.0201	0	0	0.0033	0.0006	0.0020747	54	26028	rs535840456	0.0011	0.0012	0.0011	0.0011	0.0382	0.0011	0.0010	0.0365	0.0358	9.349e-05	0	0	0.0382	2e-05	0.0002	1.662e-05	0.0008	0.0008	0.0020	0.0020	0.0020	0.0020	0.0535	0.0018	0.0017	0.0483	0.0463	0.0004	0	6.571e-05	0	0.0535	0	0	2.95e-05	0.0009	0.0019	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-0.695	0.01866	N	.	.	.	.	.	.	0.091	0.08786	.	.	.	.	.	.	.	0.0048353076	0.00103	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	5.915210143369414E-4	0.00054	.	.	0.740046441555	0.72980	T	0.006515	0.05941	T	-0.147707	0.28672	T	-0.449947	0.27704	T	.	.	.	0.49935	0.15589	T	0.03752991	0.04827	0.05474137	0.09472	0.03752991	0.04827	0.05474137	0.09471	0.879	0.00148	T	.	.	0.055	0.01470	B	.;.;.	.;.;.	-1.398247	0.00361	0.007	0.13388947542284022	0.00262	0.00004	0.00092	N	AEFBI	.	.	.	.	.	.	.	.	.	2.17213628244939E-4	0.05997	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.078987	0.02075	0	0.108351	0.23351	0.936	-0.371	0.11902	-0.038000	0.12096	-0.266000	0.10387	-0.662000	0.04349	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.3982:0.6018	3.837	0.08412	342	0.85871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002445	0.000000	0.001377	0.004425	0.000000	0.009091	0.000000	0.004348	0.08333	467.83	33	chr2	97547720	.	G	T	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=232;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=52.05;MQRankSum=-5.165;QD=8.51;ReadPosRankSum=-0.728;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:99:0|1:97547720_G_T:478,0,1614:97547720	5	0	1	0
chr2	97547725	97547725	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon21:c.T1484C:p.F495S	.	660	861	0	1	0	2	0.00116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0193	0	0	0.0031	0.0006	3.84e-05	1	26028	rs751948189	0.0011	0.0012	0.0011	0.0011	0.0381	0.0011	0.0010	0.0365	0.0358	0.0002	0	0	0.0381	2.01e-05	0.0002	1.943e-05	0.0008	0.0008	0.0020	0.0021	0.0021	0.0020	0.0536	0.0019	0.0018	0.0484	0.0464	0.0005	0	6.565e-05	0	0.0536	0	0	2.949e-05	0.0009	0.0019	.	.	.	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.1	0.00987	N	.	.	.	.	.	.	0.056	0.04072	.	.	.	.	.	.	.	0.0023993552	0.00036	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	9.067813063054564E-4	0.00083	.	.	0.665299773216	0.62167	T	0.002096	0.01499	T	-0.154472	0.27615	T	-0.459665	0.26636	T	.	.	.	0.226477	0.03654	T	0.056154415	0.11010	0.09674591	0.23000	0.056154415	0.11010	0.09674591	0.22999	0.828	0.00156	T	.	.	0.057	0.03925	B	.;.;.	.;.;.	-0.146649	0.03375	0.602	0.20451813424297846	0.00736	0.00004	0.00092	N	AEFBI	.	.	.	.	.	.	.	.	.	2.15304978803228E-4	0.05997	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.078987	0.02075	0	0.099232	0.22093	0.749	-0.204	0.12551	0.555000	0.23129	-0.378000	0.09560	-0.697000	0.04075	0.419000	0.26322	0.000000	0.08366	0.002000	0.04165	0.3194:0.0:0.6806:0.0	3.333	0.06678	342	0.85871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	467.83	33	chr2	97547725	.	A	G	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=230;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=52.05;MQRankSum=-5.165;QD=8.51;ReadPosRankSum=-0.121;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:99:0|1:97547720_G_T:478,0,1614:97547720	5	0	1	0
chr2	97792455	97792455	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon31:c.G4075A:p.D1359N	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	0.0004	0.0325479	0.0140	0.0014	0.0007	0.1511	0	0.0002	0.0035	0.0207	0.0123349	1907	154602	rs75972274	0.0055	0.0055	0.0051	0.0059	0.1467	0.0054	0.0053	0.1436	0.1423	0.0004	0.0002	3.834e-05	0.1467	0	0.0028	9.896e-05	0.0067	0.0188	0.0062	0.0063	0.0050	0.0075	0.1477	0.0059	0.0058	0.1390	0.1355	0.0010	0	0.0005	0.0003	0.1477	0	0	0.0001	0.0014	0.0256	0.004	0.65419	D	0.044	0.49663	D	0.826	0.45919	P	0.157	0.34536	B	0.001468	0.38917	N	0.305164	8.39516e-06	0.58761	P	1.955	0.52871	M	2.14	0.19450	T	-1.36	0.33798	N	0.118	0.10769	-1.0083	0.27448	T	0.000	0.00039	T	9	0.0014384389	0.00016	T	.	.	.	0.122	0.33800	.	.	.	.	0.2210515435222665	0.22020	0.226351178264	0.25190	0.478938817978	0.35910	T	0.014362	0.12243	T	-0.678437	0.00049	T	-0.605027	0.12392	T	0.019673624114104	0.00670	T	0.925008	0.72455	D	0.12665689	0.29659	0.11204181	0.27031	0.12665689	0.29659	0.11204181	0.27030	-3.701	0.19333	T	.	.	0.122	0.25331	B	.	.	4.134765	0.61898	24.4	0.99896599639781924	0.96971	0.99096	0.91166	D	AEFDBI	0.670411	0.63750	D	0.399895532990248	0.61418	4.342494	0.503368609192814	0.68216	5.189607	0.999996703599458	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	5.11	0.69188	5.624000	0.67440	4.811000	0.45042	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8717:0.1283:0.0	16.828	0.85800	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.003788	0.08333	1093.83	35	chr2	97792455	.	C	T	1093.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.726;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=1.94;SOR=0.696	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1104,0,1207	5	0	1	0
chr2	99361485	99361485	A	T	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon4:c.A584T:p.Q195L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0213465705363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.337	0.18232	T	0.063	0.23376	B	0.027	0.21085	B	.	.	.	.	0.999862	0.50061	D	1.905	0.50856	L	0.9	0.45248	T	-1.66	0.39692	N	0.227	0.25499	-1.0111	0.26573	T	0.123	0.42505	T	8	0.122159004	0.23169	T	0.021347	0.44105	T	0.167	0.42761	0.194	0.10571	0.472160230155	0.46843	0.16434783561890734	0.16354	0.149721660382	0.16881	0.382388174534	0.22596	T	0.148333	0.48684	T	-0.073273	0.40801	T	-0.343028	0.40000	T	0.26170152425766	0.23389	T	0.828317	0.49240	T	0.11538724	0.27228	0.15628105	0.36596	0.11538724	0.27228	0.15628105	0.36595	-4.199	0.26737	T	.	.	0.078	0.13456	B	.;.	.;.	2.367095	0.30367	18.42	0.98558228895525657	0.42935	0.79638	0.39502	D	AEFGBI	0.258439	0.37697	N	-0.25954913568466	0.30724	1.715836	-0.121505119406984	0.34523	1.986879	0.996848667211125	0.35056	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.92	4.76	0.60189	1.852000	0.38988	4.540000	0.43760	-0.056000	0.16711	0.990000	0.36992	1.000000	0.68203	0.956000	0.50813	0.869:0.131:0.0:0.0	13.432	0.60514	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	43	chr2	99361485	.	A	T	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.681;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-1.648;SOR=0.76	GT:AD:DP:GQ:PL	0/0:31,0:31:84:0,84,1260	5	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	284.86	35	chr2	99390613	.	G	A	284.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.671;DP=361;ExcessHet=0;FS=111.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=0.535;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,112,1361:.	5	0	1	0
chr2	100321601	100321601	G	A	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.C493T:p.R165C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00199681	0.0039	0.0004	0.0004	0	0	0.0003	0.0029	0.0184	0.0015847	245	154602	rs377306378	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0119	3.552e-05	0.0002	0	3.168e-05	0	0.0051	0.0002	0.0010	0.0128	0.0006	0.0006	0.0003	0.0008	0.0135	0.0005	0.0004	0.0109	0.0099	4.822e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0135	0.016	0.51853	D	0.105	0.38016	T	0.944	0.53183	P	0.16	0.34752	B	0.002024	0.37411	U	0.097543	0.998676	0.45259	D	2.07	0.56829	M	-1.96	0.85091	D	-3.33	0.66206	D	0.16	0.16725	-0.3573	0.73342	T	0.398	0.75023	T	10	0.0068572164	0.00156	T	.	.	.	0.388	0.70440	.	.	0.533855592455	0.53035	0.40143752523714205	0.40058	1.08347559902	0.77202	0.908861637115	0.97361	D	0.105523	0.41607	T	-0.28242	0.10413	T	-0.166777	0.57738	T	0.0885196704075557	0.11041	T	0.717928	0.33070	T	0.2549126	0.48522	0.2176143	0.46433	0.2549126	0.48522	0.2176143	0.46432	-9.997	0.73894	D	.	.	0.394	0.59211	A	.	.	3.542654	0.49765	22.8	0.99456233803651373	0.65530	0.29579	0.23859	N	AEFDBHCIJ	0.207941	0.33407	N	-0.312400794245335	0.28676	1.58369	-0.410695354937189	0.24684	1.353051	0.999999999999386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.55	2.66	0.30672	0.682000	0.25015	3.596000	0.39206	0.520000	0.23804	0.000000	0.06391	0.998000	0.33993	0.266000	0.23669	0.1096:0.0:0.8904:0.0	9.662	0.39127	616	0.66398	RING-type zinc-finger, LisH dimerisation motif|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	0.002556	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.015267	0.08333	920.83	35	chr2	100321601	.	G	A	920.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.469;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/1:27,38:65:99:931,0,658	5	0	1	0
chr2	100576452	100576452	C	T	exonic	PDCL3	.	nonsynonymous SNV	PDCL3:NM_024065:exon6:c.C676T:p.R226C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00661481219972	.	0.000399361	0.0004	0	0	0.0021	0	0	0.0011	0.0018	0.0003234	50	154602	rs199536229	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0001	0.0044	0.0042	0	0.0001	0	0.0050	1.872e-05	0.0003	2.699e-06	8.286e-05	0.0004	8.535e-05	9.186e-05	1.285e-05	0.0002	0.0017	4.953e-05	3.96e-05	0.0009	0.0007	0	0	6.538e-05	0	0.0017	0	0	1.47e-05	0	0.0004	0.246	0.17353	T	0.107	0.37730	T	0.0	0.02946	B	0.001	0.04355	B	0.911619	0.08549	N	0.963610	1	0.08975	N	-0.85	0.01485	N	1.48	0.31731	T	-1.25	0.31576	N	0.069	0.04188	-1.0184	0.24236	T	0.021	0.09101	T	10	0.0043221414	0.00087	T	0.006615	0.17444	T	0.036	0.09122	.	.	0.18274738541	0.17906	0.3992335675685308	0.39838	0.159598447306	0.18012	0.213638156652	0.00975	T	0.017654	0.14364	T	-0.657822	0.00065	T	-0.721996	0.04700	T	0.0269353623672509	0.01535	T	0.189981	0.02023	T	0.03469971	0.03943	0.022228397	0.00252	0.03469971	0.03943	0.022228397	0.00252	-3.7	0.19318	T	.	.	0.103	0.18289	B	.	.	1.224700	0.16187	12.38	0.8261602701598505	0.14284	0.01141	0.04137	N	AEFGBI	0.054004	0.09782	N	-1.85120092290579	0.00432	0.01856085	-1.93097398459547	0.00425	0.01878151	0.999998392004992	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	-9.9	0.00382	-0.755000	0.04887	-0.620000	0.08178	-0.994000	0.01837	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2384:0.1855:0.4022:0.1738	1.990	0.03236	657	0.62240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.83	33	chr2	100576452	.	C	T	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.59;DP=309;ExcessHet=0;FS=108.402;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.536;QD=0.39;ReadPosRankSum=0.76;SOR=6.516	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1710	5	0	1	0
chr2	102519909	102519909	C	T	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon9:c.C1772T:p.S591F	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	0.00459265	0.0039	9.61e-05	8.658e-05	0	0	1.499e-05	0.0011	0.0282	0.0032794	507	154602	rs373445180	0.0017	0.0017	0.0009	0.0025	0.0267	0.0016	0.0016	0.0258	0.0255	8.968e-05	8.945e-05	0	5.039e-05	0	0.0012	5.397e-06	0.0014	0.0267	0.0010	0.0010	0.0004	0.0017	0.0320	0.0009	0.0008	0.0278	0.0263	0	0	0	0	0.0002	0	0.0034	0	0.0005	0.0320	0.005	0.63226	D	0.011	0.64786	D	0.18	0.29046	B	0.067	0.27542	B	0.012878	0.29027	N	0.386878	0.908112	0.36340	D	2.015	0.55033	M	0.86	0.46777	T	-2.9	0.60827	D	0.54	0.56748	-0.7905	0.55700	T	0.168	0.50794	T	10	0.005721569	0.00127	T	.	.	.	0.182	0.45420	.	.	0.52186301387	0.51830	0.5131360382931707	0.51235	0.476697284659	0.46795	0.439870595932	0.30558	T	0.241607	0.61017	T	-0.407707	0.02059	T	-0.338147	0.40553	T	0.0734662325290808	0.09129	T	0.822218	0.48193	T	0.2358809	0.46430	0.2933075	0.55359	0.2358809	0.46430	0.2933075	0.55359	-6.924	0.53477	T	.	.	0.203	0.42720	B	.	.	3.993129	0.58790	24.0	0.99835936861751418	0.91714	0.92170	0.55101	D	AEFGBCI	0.536431	0.55465	D	0.305723627929053	0.56442	3.808885	0.453057377268326	0.64915	4.757879	0.967875349357591	0.29010	0.525926	0.21836	0	0.573888	0.26702	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	6.16	6.16	0.99302	3.195000	0.50714	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1378:0.8622:0.0:0.0	15.564	0.76010	502	0.75873	Sodium/hydrogen exchanger, regulatory region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.015267	0.08333	698.83	61	chr2	102519909	.	C	T	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.63;DP=378;ExcessHet=0;FS=6.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.184;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	5	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	280.98	34	chr2	106413119	.	A	G	280.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.57;DP=178;ExcessHet=0;FS=14.49;MLEAC=3;MLEAF=0.25;MQ=43.44;MQRankSum=-2.944;QD=7.39;ReadPosRankSum=-2.107;SOR=3.973	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1226	4	1	1	0
chr2	106433255	106433255	T	C	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon16:c.A2236G:p.M746V	.	141	1380	1	0	0	1	0.000362188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00350603925636	.	.	2.55e-05	0	0	0	0.0002	1.542e-05	0.0011	0	3.84e-05	1	26028	rs766227403	2.192e-05	2.326e-05	1.636e-05	2.754e-05	0.0005	1.587e-05	1.358e-05	8.516e-05	3.547e-05	2.994e-05	0	0	0	0	0.0005	1.709e-05	4.983e-05	8.124e-05	1.978e-05	2.627e-05	0	4.052e-05	2.943e-05	5.26e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.943e-05	0	0	0.162	0.23541	T	0.198	0.38450	T	0.458	0.36312	P	0.292	0.40739	B	.	.	.	.	0.990152	0.24207	N	2.22	0.62911	M	2.06	0.20523	T	-2.03	0.46673	N	0.276	0.36043	-1.0469	0.15274	T	0.059	0.24908	T	9	0.1893405	0.34530	T	0.003506	0.07939	T	0.045	0.12272	0.3	0.26683	0.0401082797425	0.02173	0.10693905075102678	0.10623	.	.	0.572060823441	0.48970	T	0.009466	0.08620	T	-0.167196	0.25659	T	-0.477942	0.24667	T	0.0918449951734098	0.11435	T	0.819518	0.47762	T	0.13019264	0.30385	0.23052332	0.48157	0.13019264	0.30384	0.23052332	0.48156	-7.687	0.58917	D	.	.	0.190	0.43828	B	.;.	.;.	2.415928	0.31060	18.63	0.87641636841824277	0.17375	0.79225	0.39218	D	AEFI	0.370077	0.45658	N	-0.213081733386461	0.32596	1.840008	-0.260284264624391	0.29418	1.648041	1.75990261813186E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.34	2.34	0.28071	2.525000	0.45258	5.090000	0.47345	0.304000	0.19002	0.996000	0.39380	1.000000	0.68203	0.172000	0.21044	0.0:0.0:0.0:1.0	8.234	0.30774	907	0.22727	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1120.06	48	chr2	106433255	.	T	C	1120.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.57;DP=499;ExcessHet=0.4139;FS=3.815;MLEAC=2;MLEAF=0.167;MQ=41.09;MQRankSum=-0.942;QD=4.32;ReadPosRankSum=0.556;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,30:122:99:0|1:106433255_T_C:493,0,2857:106433255	4	0	2	0
chr2	106457583	106457583	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon3:c.C236T:p.A79V	.	343	1175	4	0	0	4	0.00169924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0812635257962	.	.	0.0064	0	0	.	.	0.0096	0	0	0.0011142	29	26028	rs199757971	0.0055	0.0068	0.0055	0.0055	0.0064	0.0054	0.0053	0.0063	0.0062	0.0010	0.0025	0.0049	0	0.0025	0.0057	0.0064	0.0063	0.0036	0.0062	0.0075	0.0066	0.0058	0.0104	0.0058	0.0057	0.0097	0.0095	0.0018	0	0.0052	0.0070	0	0.0023	0.0105	0.0104	0.0049	0.0034	0.0	0.91255	D	0.006	0.70582	D	0.991	0.64070	D	0.992	0.80445	D	.	.	.	.	0.571552	0.32298	D	2.175	0.60977	M	-3.47	0.94546	D	-2.62	0.56301	D	0.716	0.78546	0.985	0.96939	D	0.901	0.96721	D	9	0.023100346	0.00595	T	0.081264	0.73643	D	0.634	0.85975	.	.	0.681259230406	0.67854	0.12690884095730393	0.12616	.	.	0.844268143177	0.88745	D	0.079506	0.36144	T	0.294923	0.82558	D	0.18586	0.82334	D	0.0274227119285943	0.01605	T	0.935306	0.75759	D	0.29534668	0.52484	0.4060595	0.64990	0.29534668	0.52484	0.4060595	0.64990	-9.441	0.70492	D	.	.	0.673	0.78070	P	.;.	.;.	4.546614	0.71521	25.7	0.9973414940983597	0.82975	0.96052	0.67315	D	AEFI	0.570260	0.57471	D	0.423330421158518	0.62706	4.491185	0.233916611383288	0.51737	3.353888	0.00138210857677205	0.08495	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.36	2.36	0.28258	7.802000	0.84533	11.753000	0.95453	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	10.426	0.43566	882	0.29131	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	50.83	20	chr2	106457583	.	G	A	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.22;DP=101;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=28.84;MQRankSum=0.104;QD=3.91;ReadPosRankSum=1.1;SOR=0.124	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,637	5	0	1	0
chr2	106490937	106490937	T	C	exonic	CD8B2	.	nonsynonymous SNV	CD8B2:NM_001349727:exon2:c.T107C:p.M36T,CD8B2:NM_001368307:exon2:c.T107C:p.M36T	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs533493720	0.0015	0.0015	0.0014	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0011	0.0013	0.0002	2.519e-05	1.873e-05	0.0043	0.0015	0.0013	0.0025	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0009	0.0012	0.0011	0.0008	0	0.0008	0.0003	0	0	0.0034	0.0014	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011199117	0.00246	T	.	.	.	.	.	.	.	.	.	0.099388158447209	0.09869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460054	0.13307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	-3.164717	0.00007	0.001	0.60973766807697649	0.06594	0.00135	0.00831	N	AEFGI	.	.	.	.	.	.	.	.	.	3.1793448261721E-5	0.03775	0.080785	0.02172	0	0.085267	0.02369	0	0.121075	0.03231	0	0.050693	0.00103	0	0.0579845	0.13864	3.44	-3.97	0.03821	-7.065000	0.00057	-14.449000	0.00403	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1754:0.5598:0.0:0.2648	4.137	0.09642	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2166.06	35	chr2	106490937	.	T	C	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.01;DP=320;ExcessHet=0.4139;FS=2.191;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-0.09;QD=12.67;ReadPosRankSum=0.48;SOR=0.945	GT:AD:DP:GQ:PL	0/1:57,29:86:99:765,0,1618	4	0	2	0
chr2	108247205	108247205	T	C	exonic	SULT1C3	.	nonsynonymous SNV	SULT1C3:NM_001008743:exon2:c.T11C:p.I4T,SULT1C3:NM_001320878:exon2:c.T11C:p.I4T	.	439	1060	21	2	0	25	0.011655	.	.	.	2215923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00154417805914	0.0019	0.000599042	0.0014	0.0002	0.0008	0	0	0.0018	0	0.0022	0.001423	220	154602	rs145344319	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0.0014	0.0022	5.329e-05	7.859e-05	0.0041	0.0019	0.0025	0.0021	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0015	0.0005	0	0.0008	0.0009	0	0	0.0034	0.0019	0.0024	0.0029	0.251	0.17069	T	0.34	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	0.001889	0.00837	N	13.828700	1	0.08975	N	0	0.06538	N	4.78	0.01551	T	-0.4	0.13805	N	0.037	0.01135	-0.9156	0.46142	T	0.003	0.01059	T	10	0.0070406795	0.00160	T	0.001544	0.02420	T	0.023	0.04649	.	.	0.146414634003	0.14194	0.2950949393018245	0.29422	0.0705022220903	0.07900	0.46228787303	0.33624	T	0.001542	0.00986	T	-0.694049	0.00040	T	-0.774657	0.02618	T	0.00395966875437523	0.00042	T	0.328667	0.06851	T	0.030933708	0.02843	0.038975026	0.03885	0.030933708	0.02842	0.038975026	0.03885	-2.529	0.05983	T	.	.	0.061	0.01059	B	.	.	-0.881287	0.00957	0.037	0.49644701866555579	0.04246	0.00727	0.03054	N	AEFBI	0.041655	0.06360	N	-1.97817681628281	0.00236	0.01009899	-2.05030213229017	0.00239	0.01052244	1.60551189643201E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.38	0.02465	-0.421000	0.07118	-0.041000	0.12668	-2.054000	0.00416	0.028000	0.20300	0.002000	0.18203	0.000000	0.00833	0.4973:0.2377:0.0:0.265	3.181	0.06192	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	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.08333	961.83	31	chr2	108247205	.	T	C	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.551;DP=188;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.94;SOR=0.299	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	5	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	3439.8	135	chr2	108259015	.	G	*	3439.8	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.037;DP=785;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.243;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,155:155:99:.:.:6930,470,0:.	2	3	1	0
chr2	108781340	108781340	G	A	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon26:c.G8671A:p.G2891S	.	0	1517	5	0	0	5	0.00164528	.	.	.	516295	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00259585	0.0011	0.0002	0.0006	0.0003	0	6.003e-05	0	0.0069	0.0009767	151	154602	rs376940698	0.0005	0.0005	0.0003	0.0008	0.0069	0.0005	0.0005	0.0065	0.0063	5.974e-05	0.0007	0.0004	0.0019	1.872e-05	0.0005	2.878e-05	0.0006	0.0069	0.0004	0.0004	0.0002	0.0006	0.0077	0.0003	0.0003	0.0057	0.0050	4.814e-05	0	0.0002	0.0012	0.0012	0	0	4.411e-05	0.0005	0.0077	0.58	0.05992	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.5	0.00507	N	1.74	0.26301	T	1.21	0.01064	N	0.094	0.07398	-0.9620	0.38800	T	0.013	0.05033	T	9	0.0043631196	0.00089	T	.	.	.	0.021	0.04004	.	.	0.15499578495	0.15088	0.09860042773383884	0.09791	0.351519266258	0.36992	0.279061615467	0.07362	T	0.114437	0.43226	T	-0.687151	0.00043	T	-0.757071	0.03218	T	0.00417180793140321	0.00044	T	0.155884	0.01367	T	0.019634185	0.00498	0.034645382	0.02569	0.019634185	0.00497	0.034645382	0.02568	-2.311	0.04615	T	0.04573714328647655	0.00598	0.069	0.03231	B	.	.	0.313853	0.06887	3.424	0.19921633511793266	0.00694	0.03404	0.08522	N	AEFBI	0.032487	0.03680	N	-1.56708925986297	0.01437	0.06268964	-1.44026719315202	0.02859	0.1323192	0.996104888014782	0.34527	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	0.789	0.17750	0.615000	0.24023	0.819000	0.21831	-0.292000	0.06281	0.004000	0.16614	0.008000	0.19753	0.206000	0.22070	0.5584:0.2406:0.201:0.0	5.699	0.17144	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	694.83	33	chr2	108781340	.	G	A	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.398;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1299	5	0	1	0
chr2	109614510	109614527	GGGCCCCGAGGCGGCGCT	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.21_38del:p.A12_A17del	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	0	3.84e-05	1	26028	rs781518026	0.0001	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0017	0.0015	0.0002	0.0001	0	0.0002	0	0.0003	9.15e-05	9.031e-05	0.0021	0.0001	0.0001	0.0002	0.0001	0.0010	9.774e-05	8.284e-05	0.0004	0.0003	0.0003	0	0	0	0.0004	0	0	4.422e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	382.82	19	chr2	109614509	.	GGGGCCCCGAGGCGGCGCT	G	382.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.187;DP=74;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=-0.933;SOR=0.818	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,205	5	0	1	0
chr2	109615225	109615233	TCGGTGGCC	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.736_744del:p.V247_S249del	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0015	0	0	0	0.0014	0.0075	0.0005	0.0003458	9	26028	rs775437106	0.0005	0.0005	0.0005	0.0005	0.0153	0.0005	0.0004	0.0126	0.0116	0.0004	0.0030	0.0002	0	4.38e-05	0.0153	0.0004	0.0009	0.0006	0.0008	0.0008	0.0006	0.0009	0.0044	0.0007	0.0006	0.0036	0.0033	0.0001	0	0.0044	0	0	0	0.0034	0.0005	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	868.79	35	chr2	109615224	.	ATCGGTGGCC	A	868.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.643;DP=228;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.2;ReadPosRankSum=-0.695;SOR=0.503	GT:AD:DP:GQ:PL	0/1:20,23:43:99:879,0,770	5	0	1	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1739.06	37	chr2	110963643	.	G	A	1739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.15;DP=319;ExcessHet=0.4139;FS=14.395;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.149;SOR=1.403	GT:AD:DP:GQ:PL	0/1:53,26:79:99:554,0,1272	4	0	2	0
chr2	111862567	111862567	A	C	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon10:c.T1084G:p.S362A	.	551	954	17	0	0	17	0.00883117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	0.0047	0.0180	0.0025	0.0059	0.0003	0.0014	0.0013	0.0139	3.84e-05	1	26028	rs753622705	0.0004	0.0044	0.0003	0.0005	0.0047	0.0004	0.0004	0.0041	0.0038	0.0047	0.0015	0.0003	0.0010	9.409e-05	0.0012	0.0001	0.0004	0.0027	6.61e-05	0.0004	3.878e-05	9.47e-05	0.0002	3.536e-05	2.631e-05	9.701e-05	7.061e-05	0.0002	0	0	0	0	0	0	1.472e-05	0	0.0002	0.17	0.22833	T	0.404	0.14818	T	0.841	0.46518	P	0.746	0.55899	P	0.079948	0.20953	U	0.221037	0.999023	0.45899	D	2.215	0.62545	M	.	.	.	-0.97	0.25770	N	0.542	0.56919	-0.7187	0.59527	T	0.275	0.64681	T	9	0.009175271	0.00207	T	.	.	.	0.151	0.39764	.	.	0.300784259202	0.29686	0.5780039866043089	0.57729	.	.	0.76539003849	0.76733	T	0.006937	0.06364	T	0.0593238	0.59528	T	-0.152562	0.59015	T	0.0335864095914406	0.02568	T	0.675932	0.28448	T	0.07947044	0.18158	0.08809113	0.20519	0.07947044	0.18158	0.08809113	0.20518	-5.076	0.37653	T	.	.	0.082	0.08560	B	.	.	3.524964	0.49431	22.8	0.99124367532288282	0.53089	0.97830	0.77447	D	AEFBI	0.838031	0.75559	D	0.557662716379584	0.70549	5.517996	0.601730172591018	0.75064	6.245122	0.972534829490776	0.29379	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.397000	0.79162	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.415	0.66717	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011585	0.000000	0.016484	0.008850	0.000000	0.008929	0.007937	0.004237	0.08333	163.83	34	chr2	111862567	.	A	C	163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.741;DP=227;ExcessHet=0;FS=7.911;MLEAC=1;MLEAF=0.083;MQ=48.79;MQRankSum=-4.908;QD=3.34;ReadPosRankSum=-0.683;SOR=2.312	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr2	111864822	111864822	C	T	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon8:c.G815A:p.R272Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0124079438189	.	.	8.732e-05	0	0.0007	0	0	0	0	0.0001	3.84e-05	1	26028	rs780619350	1.165e-05	1.573e-05	9.546e-06	1.377e-05	0.0002	7.1e-06	5.8e-06	0.0001	7.819e-05	2.995e-05	0.0002	0	2.521e-05	0	0.0002	8.996e-07	1.662e-05	3.482e-05	6.59e-06	6.57e-06	0	1.35e-05	6.575e-05	0	0	.	.	0	0	6.575e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.968	0.71741	D	0.000768	0.41888	U	0.000000	0.999993	0.58761	D	2.32	0.66415	M	.	.	.	-2.98	0.62008	D	0.761	0.75927	-0.1961	0.77772	T	0.428	0.77062	T	9	0.73045295	0.74262	D	0.012408	0.30958	T	0.263	0.57612	0.634	0.77032	0.285698343383	0.28168	0.7117173711106226	0.71113	.	.	0.430114626884	0.29224	T	0.109578	0.42356	T	0.121977	0.66571	D	0.21687	0.84015	D	0.690933346748352	0.40291	D	0.959404	0.84692	D	0.63969684	0.74815	0.37077618	0.62320	0.63969684	0.74816	0.37077618	0.62320	-4.617	0.32385	T	.	.	0.724	0.73938	P	.	.	5.012342	0.83247	28.0	0.99948165374108255	0.99923	0.97902	0.77993	D	AEFI	0.774908	0.70848	D	0.757916281664894	0.83422	8.012779	0.730924365691458	0.84726	8.373246	0.999736175585824	0.42341	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	6.379000	0.73086	4.849000	0.45357	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.601	0.91203	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	939.83	72	chr2	111864822	.	C	T	939.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=43.79;MQRankSum=-0.389;QD=13.05;ReadPosRankSum=0.486;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	5	0	1	0
chr2	120955394	120955394	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon4:c.G232A:p.A78T,GLI2:NM_001371271:exon5:c.G607A:p.A203T,GLI2:NM_001374353:exon5:c.G607A:p.A203T,GLI2:NM_005270:exon5:c.G607A:p.A203T	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	266537	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_provided|Inborn_genetic_diseases|GLI2-related_disorder	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0170093411846	0.0013	0.000399361	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0004	0.0006468	100	154602	rs147044066	0.0012	0.0012	0.0012	0.0012	0.0015	0.0011	0.0011	0.0014	0.0014	0.0003	0.0005	0	2.523e-05	0.0002	0.0003	0.0015	0.0012	0.0001	0.0008	0.0008	0.0008	0.0009	0.0015	0.0007	0.0007	0.0012	0.0011	0.0003	0	0.0009	0	0	9.432e-05	0	0.0015	0.0005	0.0004	0.426	0.09658	T	0.14	0.33554	T	0.004	0.12183	B	0.003	0.08700	B	0.191183	0.16842	N	0.622381	1	0.19694	N	0.05	0.08135	N	-0.27	0.67367	T	-1.55	0.37566	N	0.182	0.19728	-1.0203	0.23616	T	0.109	0.39344	T	10	0.009380072	0.00212	T	0.017009	0.38529	T	0.074	0.21613	.	.	0.448695639987	0.44491	0.4597340873837687	0.45891	0.317064055996	0.33956	0.285422563553	0.08260	T	0.381759	0.74400	T	-0.493352	0.00623	T	-0.51682	0.20618	T	0.00474816837533812	0.00051	T	0.686231	0.29475	T	0.035909805	0.04316	0.06290863	0.12382	0.036372304	0.04462	0.06325516	0.12503	-4.033	0.24296	T	.	.	0.066	0.02065	B	.;.	.;.	0.364820	0.07376	3.995	0.94436019677811123	0.24855	0.12982	0.17595	N	AEFDBCI	0.124018	0.23989	N	-1.41020274204792	0.02548	0.112675	-1.35902464139531	0.03700	0.1731625	0.999601793314814	0.40866	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.73	-0.309	0.12135	0.733000	0.25754	.	.	-0.681000	0.04224	0.027000	0.20232	0.000000	0.08366	0.091000	0.17840	0.6091:0.0:0.3909:0.0	10.253	0.42557	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1991.83	143	chr2	120955394	.	G	A	1991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.945;DP=503;ExcessHet=0;FS=5.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.275;SOR=0.384	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	5	0	1	0
chr2	127566766	127566766	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon5:c.A409G:p.I137V	.	410	1103	8	1	0	10	0.00451264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.0391967652158	7.9e-05	.	1.673e-05	0	0	0	0	3.025e-05	0	0	1.29e-05	2	154602	rs376926341	1.506e-05	1.505e-05	5.451e-06	2.477e-05	1.799e-05	9.86e-06	8.42e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.186	0.28860	T	0.993	0.65571	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	0.999813	0.49394	D	1.495	0.37439	L	-2.33	0.87910	D	-0.88	0.23808	N	0.284	0.32148	0.245	0.86669	D	0.685	0.89132	D	10	0.52617735	0.62922	D	0.039197	0.58670	D	0.558	0.81831	.	.	0.715176864814	0.71267	0.4114651380891858	0.41062	0.0769873600419	0.08650	0.364211261272	0.19998	T	0.12563	0.45147	T	-0.0467259	0.44944	T	-0.197238	0.54908	T	0.300336171935976	0.25018	T	0.778122	0.41194	T	0.15136752	0.34414	0.16826375	0.38773	0.15136752	0.34414	0.16826375	0.38772	-6.069	0.46853	T	.	.	0.063	0.01622	B	.;.	.;.	1.695412	0.21600	15.27	0.99890689388837095	0.96513	0.78586	0.38794	D	AEFDGBHCI	0.622183	0.60660	D	0.465715574811048	0.65099	4.780188	0.46653902518479	0.65784	4.867985	0.999984003813232	0.51787	0.55562	0.30534	0	0.61073	0.52368	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	3.077000	0.49787	0.422000	0.18230	-0.541000	0.04931	1.000000	0.71638	0.014000	0.20376	0.818000	0.38543	0.852:0.1479:0.0:0.0	11.670	0.50655	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1236.83	35	chr2	127566766	.	A	G	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.618;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.4;SOR=0.643	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1247,0,1105	5	0	1	0
chr2	130369153	130369153	G	A	exonic	PTPN18	.	stopgain	PTPN18:NM_001142370:exon2:c.G114A:p.W38X,PTPN18:NM_014369:exon6:c.G435A:p.W145X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325002147	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003817	0.34463	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.257	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.725469	0.97938	38	0.99640128523199534	0.76633	0.89573	0.50124	D	AEFDBCI	0.055492	0.10181	N	0.817012087084317	0.87159	9.122323	0.667773811483215	0.79940	7.189953	0.99999999857709	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.584781	0.30282	0	0.683762	0.67416	0	.	.	4.39	4.39	0.52211	4.940000	0.63234	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.273	0.73416	982	0.03397	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	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	1009.83	35	chr2	130369153	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.307;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.03;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	5	0	1	0
chr2	130463126	130463126	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2918A:p.G973D,POTEI:NM_001371926:exon17:c.G2984A:p.G995D	.	17	1462	43	0	0	43	0.0144928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	.	0.00599042	0.0862	0	0.25	.	.	0.2	.	0.5	0.0005304	82	154602	rs199773105	0.0061	0.0069	0.0059	0.0063	0.0137	0.0060	0.0059	0.0109	0.0100	0.0009	0.0043	0.0036	0.0002	0.0011	0.0137	0.0065	0.0055	0.0104	0.0055	0.0039	0.0059	0.0049	0.0149	0.0050	0.0048	0.0098	0.0081	0.0007	0.0294	0.0060	0.0051	0.0005	0.0017	0.0105	0.0082	0.0079	0.0149	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.841103	0.28629	N	4.35	0.98464	H	-4.35	0.97292	D	-5.12	0.83157	D	0.345	0.38643	0.818	0.94632	D	0.966	0.98910	D	6	0.004136771	0.00081	T	.	.	.	0.429	0.73590	.	.	0.314716216878	0.31082	0.08182548998098027	0.08117	.	.	0.573933362961	0.49232	T	0.758635	0.93444	D	-0.104878	0.35615	T	0.0765659	0.75348	D	0.190866874594274	0.19896	T	0.966903	0.87955	D	0.7161771	0.78949	0.6736337	0.80842	0.7161771	0.78951	0.6736337	0.80843	-11.571	0.82699	D	.	.	0.459	0.62665	A	.	.	2.451597	0.31569	18.78	0.99168820127336643	0.54326	0.81478	0.40873	D	AEFI	0.302231	0.41053	N	-0.00528454834388875	0.41614	2.492382	-0.324298975982863	0.27316	1.514877	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.987000	0.30940	0.194000	0.21720	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.83	51	chr2	130463126	.	C	T	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.146;DP=177;ExcessHet=0;FS=4.193;MLEAC=1;MLEAF=0.083;MQ=32.96;MQRankSum=0.924;QD=6.86;ReadPosRankSum=-0.458;SOR=1.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	5	0	1	0
chr2	130464114	130464114	A	C	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.T1930G:p.F644V,POTEI:NM_001371926:exon17:c.T1996G:p.F666V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00232069940374	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2599800	4.455e-05	0.0004	1.836e-05	7.291e-05	0.0003	2.682e-05	2.119e-05	4.65e-05	1.922e-05	0	0.0002	0.0002	0	0	0	3.805e-05	0	0.0003	0	0.0017	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	0.22	0.18956	T	0.387	0.15650	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.94	0.75325	T	-0.01	0.07155	N	0.061	0.03283	-0.9596	0.39255	T	0.154	0.48360	T	7	0.048131645	0.04222	T	0.002321	0.04479	T	0.056	0.15993	.	.	0.0986583533028	0.09354	0.003623338190744416	0.00339	.	.	0.664063692093	0.61989	T	0.014274	0.12184	T	-0.2376	0.15655	T	-0.579072	0.14628	T	0.0279980392384522	0.01689	T	0.060394	0.00440	T	0.049516708	0.08803	0.054108556	0.09244	0.049516708	0.08802	0.054108556	0.09243	-4.663	0.32953	T	.	.	0.083	0.09336	B	.	.	0.545493	0.09141	5.924	0.42561007843572135	0.03146	0.01204	0.04289	N	AEFI	.	.	.	-1.15527644688267	0.05694	0.2602254	-1.30336887273633	0.04386	0.2067916	1.22258822440698E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.108000	0.10827	.	.	-0.656000	0.04369	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2281:0.0:0.4576:0.3143	1.921	0.03106	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	.	.	.	.	.	.	.	.	0.6667	285.38	.	chr2	130464114	.	A	C	285.38	.	AC=4;AF=0.667;AN=6;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.82;QD=28.54;SOR=4.804	GT:AD:DP:GQ:PL	1/1:0,4:4:12:119,12,0	1	2	0	3
chr2	130964246	130964246	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375904:exon1:c.G55A:p.A19T	.	691	829	1	1	0	3	0.00180614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0021515	56	26028	rs540229117	0.0050	0.0030	0.0051	0.0049	0.0051	0.0048	0.0048	0.0050	0.0049	0.0004	0.0010	0.0012	0.0003	0	0.0025	0.0051	0.0052	0.0042	0.0034	0.0034	0.0034	0.0034	0.0087	0.0031	0.0030	0.0075	0.0070	0.0006	0	0.0087	0.0023	0.0006	0.0012	0	0.0043	0.0061	0.0050	0.282	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.54	0.70950	T	-0.1	0.08495	N	.	.	.	.	.	.	.	.	.	0.011431098	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14431	B	.	.	2.565190	0.33231	19.28	0.97546560952503858	0.34544	0.57529	0.30400	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999751464567074	0.42595	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.109499	0.03221	0	0.275838	0.33908	2.65	2.65	0.30588	2.882000	0.48244	.	.	0.577000	0.29297	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	9.001	0.35245	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	73.34	10	chr2	130964246	.	G	A	73.34	.	AC=2;AF=0.167;AN=12;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=24.45;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	5	1	0	0
chr2	131264432	131264432	C	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.C2977G:p.L993V	.	14	1506	2	0	0	2	0.00066357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.222186184863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263827552	5.518e-05	6.912e-05	5.144e-05	5.894e-05	0.0002	4.503e-05	4.168e-05	4.906e-05	4.509e-05	0	6.898e-05	0	0	0	0.0002	6.143e-05	5.055e-05	5.859e-05	7.259e-05	8.533e-05	6.452e-05	8.103e-05	0.0002	3.988e-05	3.139e-05	6.82e-05	5.099e-05	0	0	6.564e-05	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.878	0.62312	P	.	.	.	.	1	0.81001	D	4.585	0.99218	H	-4.62	0.97884	D	-2.36	0.52128	N	0.292	0.33030	0.978	0.96832	D	0.964	0.98851	D	8	0.7819468	0.77927	D	0.222186	0.87842	D	0.480	0.77077	0.861	0.95829	0.763988352957	0.76183	0.010122206087772222	0.00974	.	.	0.553822577	0.46396	T	0.656849	0.89653	D	-0.0686763	0.41537	T	-0.0671254	0.65831	T	0.750710725784302	0.43324	D	0.976502	0.91818	D	0.3686036	0.58481	0.31042522	0.57053	0.3686036	0.58481	0.31042522	0.57052	-12.831	0.88654	D	.	.	0.347	0.56409	A	.	.	2.159868	0.27519	17.49	0.99111794558212429	0.52750	0.49333	0.28409	N	AEFI	0.320271	0.42342	N	0.116402078656089	0.47227	2.951461	-0.261959615550309	0.29363	1.64442	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	2.959000	0.48846	.	.	0.179000	0.17797	1.000000	0.71638	0.999000	0.35428	0.192000	0.21661	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	397.83	43	chr2	131264432	.	C	G	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.642;DP=237;ExcessHet=0;FS=4.03;MLEAC=1;MLEAF=0.083;MQ=27.25;MQRankSum=0.773;QD=9.25;ReadPosRankSum=0.597;SOR=0.094	GT:AD:DP:GQ:PL	0/0:42,0:42:87:0,87,1594	5	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1	90.13	197	chr2	131480177	.	G	A	90.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.79;DP=808;ExcessHet=0;FS=61.336;MLEAC=1;MLEAF=0.1;MQ=51.71;MQRankSum=-5.855;QD=0.54;ReadPosRankSum=0.018;SOR=5.097	GT:AD:DP:GQ:PL	0/1:147,20:167:99:99,0,3956	4	0	1	1
chr2	132320186	132320186	A	G	exonic	ZNF806	.	nonsynonymous SNV	ZNF806:NM_001355461:exon4:c.A161G:p.Q54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	89.62	6	chr2	132320186	.	A	G	89.62	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.834;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	0	1	4
chr2	132782106	132782106	T	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A4705T:p.I1569F	.	429	1087	5	1	0	7	0.00320954	.	.	.	2229228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00397501920552	0.0006	0.000199681	0.0004	0.0001	0.0003	0	0	0.0006	0.0022	6.057e-05	0.000401	62	154602	rs147016733	0.0004	0.0004	0.0004	0.0005	0.0042	0.0004	0.0004	0.0029	0.0024	0.0003	0.0006	0.0033	0	0	0.0042	0.0004	0.0008	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0004	0.0029	0	0	0.0102	0.0005	0.0014	0.0002	0.703	0.04134	T	0.08	0.41913	T	0.013	0.16609	B	0.029	0.21540	B	0.863766	0.07132	U	1.139330	1	0.08975	N	0	0.06538	N	2.95	0.09635	T	-0.76	0.21215	N	0.077	0.10198	-0.9189	0.45702	T	0.012	0.04558	T	10	0.008092701	0.00184	T	0.003975	0.09400	T	0.029	0.06676	.	.	0.134007934775	0.12933	0.0459837562936726	0.04542	0.0586837492094	0.06507	0.260159790516	0.04910	T	0.006107	0.05549	T	-0.664003	0.00059	T	-0.822821	0.01396	T	0.00280000455282328	0.00029	T	0.417558	0.11011	T	0.040064566	0.05651	0.04287853	0.05207	0.040064566	0.05650	0.04287853	0.05206	-4.564	0.31716	T	.	.	0.089	0.12132	B	.;.	.;.	-0.299178	0.02620	0.328	0.28971077264325079	0.01514	0.09465	0.15215	N	AEFBI	0.113986	0.22469	N	-1.89912165681931	0.00345	0.014809	-1.9079731853538	0.00472	0.02090512	0.00479197942498734	0.10715	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.33	-5.68	0.02240	-0.132000	0.10446	.	.	-1.695000	0.00765	0.001000	0.13787	0.000000	0.08366	0.247000	0.23184	0.0:0.1768:0.3874:0.4358	7.969	0.29279	976	0.04745	Nck-associated protein 5, C-terminal;Nck-associated protein 5, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	2026.83	149	chr2	132782106	.	T	A	2026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.25;DP=356;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.029;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	5	0	1	0
chr2	132784614	132784614	T	C	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00361199838757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.829	0.03728	T	0.018	0.17786	B	0.011	0.15521	B	0.431185	0.12746	U	0.624448	1	0.08975	N	1.7	0.43825	L	1.01	0.41058	T	-0.93	0.24898	N	0.082	0.08646	-1.0207	0.23486	T	0.056	0.23715	T	10	0.04424566	0.03361	T	0.003612	0.08278	T	0.019	0.03383	0.198	0.11110	0.147330786459	0.14319	0.11503444975752376	0.11431	0.0516791353722	0.05686	0.322222530842	0.13757	T	0.005166	0.04603	T	-0.191201	0.22081	T	-0.512424	0.21066	T	0.051692031441021	0.05795	T	0.622938	0.23989	T	0.103632785	0.24496	0.08225675	0.18758	0.103632785	0.24496	0.08225675	0.18758	-4.014	0.24013	T	.	.	0.101	0.17488	B	.;.	.;.	0.433077	0.08032	4.754	0.97276644908955556	0.33163	0.03937	0.09332	N	AEBI	0.057944	0.10835	N	-0.810703354843103	0.13036	0.6394501	-0.747366538738084	0.15786	0.83203	2.77513070548194E-4	0.06300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.77	0.31614	0.865000	0.27595	.	.	0.661000	0.55757	0.123000	0.23227	0.001000	0.17328	0.905000	0.44082	0.0:0.2652:0.1661:0.5687	4.311	0.10415	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	.	.	.	.	.	.	.	.	0.08333	1233.83	119	chr2	132784614	.	T	C	1233.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=440;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.438;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	5	0	1	0
chr2	132784881	132784881	T	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A1930C:p.T644P	.	.	.	.	.	.	.	.	.	.	.	2208996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0144197466237	.	.	8.986e-06	0	0	0	0	1.553e-05	0	0	6.5e-06	1	154602	rs760389553	9.914e-06	1.026e-05	2.797e-06	1.722e-05	1.194e-05	5.75e-06	4.5e-06	6.66e-06	5.13e-06	0	0	0	0	0	0	1.194e-05	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.102	0.38450	T	0.61	0.39628	P	0.202	0.36942	B	0.163198	0.17599	U	0.395578	1	0.81001	D	1.78	0.46185	L	0.94	0.43672	T	-1.95	0.45222	N	0.147	0.14905	-1.0742	0.08514	T	0.070	0.28445	T	10	0.07277539	0.10909	T	0.01442	0.34525	T	0.058	0.16647	0.088	0.00943	0.082315109003	0.07666	0.04455609937982697	0.04399	0.165844327787	0.18713	0.2513487041	0.03912	T	0.004702	0.04113	T	-0.279203	0.10751	T	-0.533547	0.18934	T	0.231552556157112	0.22025	T	0.577942	0.20808	T	0.30338284	0.53206	0.33484387	0.59305	0.30338284	0.53206	0.33484387	0.59304	-3.325	0.14061	T	.	.	0.094	0.14431	B	.;.	.;.	1.686325	0.21489	15.22	0.99095874980540311	0.52346	0.77637	0.38196	D	AEFBI	0.441738	0.49976	N	-0.135597240999445	0.35849	2.064455	-0.0514325582911964	0.37427	2.191341	0.00998535850662474	0.11946	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	4.46	0.53567	1.711000	0.37549	.	.	0.661000	0.55757	0.705000	0.28674	0.053000	0.21875	0.793000	0.37436	0.1407:0.0:0.0:0.8593	10.823	0.45818	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	.	.	.	.	.	.	.	.	0.08333	2028.83	119	chr2	132784881	.	T	G	2028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.16;DP=480;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.123;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	5	0	1	0
chr2	135840873	135840873	A	G	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon17:c.T2428C:p.Y810H	Lactase persistence/nonpersistence, Autosomal dominant	0	1502	16	4	0	24	0.00792602	.	.	.	970197	not_provided|not_specified|LACTASE_PERSISTENCE	MedGen:C3661900|MedGen:CN169374|MedGen:C1857231	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.00816845344271	0.0002	0.000599042	0.0002	0.0002	0.0004	0	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs55660827	0.0008	0.0008	0.0008	0.0008	0.1335	0.0007	0.0007	0.1257	0.1226	0.0024	0.0005	0	0	0	0.1335	6.116e-05	0.0025	0.0004	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0017	9.618e-05	0	0.0026	0	0	0	0.1088	7.348e-05	0.0043	0.0002	0.128	0.26965	T	0.093	0.39799	T	0.628	0.40146	P	0.773	0.56974	P	0.000581	0.43095	D	0.210963	0.984289	0.40125	D	2.105	0.58435	M	4.05	0.03092	T	-2.21	0.49684	N	0.338	0.37923	-1.1426	0.01264	T	0.031	0.13374	T	10	0.03318864	0.01488	T	0.008168	0.21649	T	0.170	0.43303	.	.	0.363336886782	0.35939	0.5377150212763859	0.53696	0.657411678916	0.58695	0.728210806847	0.71246	T	0.24235	0.61107	T	-0.349618	0.04751	T	-0.423823	0.30638	T	0.0947053454181062	0.11764	T	0.960604	0.85218	D	0.25625196	0.48663	0.12922642	0.31075	0.25625196	0.48663	0.12922642	0.31074	-8.275	0.62928	D	.	.	0.194	0.41418	B	.	.	4.234975	0.64158	24.7	0.99772253282477041	0.86003	0.90224	0.51232	D	AEFDGBHIJ	0.588732	0.58588	D	0.420798480619193	0.62566	4.474676	0.449949719781267	0.64711	4.732958	0.999999963291514	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.702456	0.68683	0	0.656636	0.63459	0	.	.	5.25	5.25	0.73169	5.130000	0.64587	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.111	0.72032	226	0.91233	.	.	.	.	.	.	Likely benign	0	0	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	0.094159	0.070707	0.057065	0.327485	0.000000	0.163793	0.003049	0.003788	0.08333	746.83	90	chr2	135840873	.	A	G	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.169;DP=272;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=1.52;SOR=0.996	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr2	140335684	140335684	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon78:c.C12047T:p.P4016L	.	432	1081	9	0	0	9	0.00414556	.	.	.	3192637	not_provided|LRP1B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.491	0.0588799029466	0.0046	0.00259585	0.0032	0.0008	0.0018	0	0.0011	0.0049	0.0044	0.0012	0.0032341	500	154602	rs150957163	0.0038	0.0038	0.0037	0.0038	0.0071	0.0037	0.0036	0.0054	0.0048	0.0005	0.0028	0.0005	5.042e-05	0.0016	0.0071	0.0044	0.0033	0.0012	0.0032	0.0032	0.0032	0.0031	0.0049	0.0029	0.0029	0.0041	0.0039	0.0009	0.0396	0.0049	0.0003	0	0.0009	0.0136	0.0045	0.0047	0.0006	0.084	0.32929	T	0.023	0.57104	D	0.314	0.32870	B	0.098	0.30479	B	0.000017	0.62929	D	0.069585	0.999975	0.53665	D	0.52	0.13579	N	-3.24	0.93474	D	-0.93	0.24898	N	0.645	0.65673	-0.1080	0.79915	T	0.536	0.82863	D	10	0.0100182295	0.00224	T	0.05888	0.67473	D	0.491	0.77783	.	.	0.280695755116	0.27685	0.7178345472454309	0.71726	0.552560771212	0.52063	0.651532649994	0.60203	T	0.114708	0.43274	T	-0.192536	0.21887	T	-0.0482507	0.67141	D	0.0131924202646339	0.00234	T	0.874113	0.58433	D	0.10732213	0.25377	0.12931658	0.31097	0.10732213	0.25376	0.12931658	0.31096	-0.524	0.00598	T	.	.	0.118	0.23952	B	.	.	3.340424	0.46023	22.2	0.99771809714559434	0.86003	0.96965	0.71915	D	AEFI	0.905797	0.85777	D	0.334709480974737	0.57937	3.963332	0.447883297387772	0.64579	4.716543	0.896364360218003	0.25976	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.420000	0.79394	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8538:0.1462	14.563	0.67745	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	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	0.007560	0.005051	0.009511	0.008772	0.000000	0.008621	0.006135	0.000000	0.08333	497.83	48	chr2	140335684	.	G	A	497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.067;DP=219;ExcessHet=0;FS=4.476;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.021;SOR=0.26	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	5	0	1	0
chr2	143767996	143767996	G	A	exonic	ARHGAP15	.	nonsynonymous SNV	ARHGAP15:NM_018460:exon14:c.G1252A:p.A418T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00589962753456	.	.	2.478e-05	0	8.681e-05	0	0	1.502e-05	0	6.083e-05	1.94e-05	3	154602	rs758104156	6.844e-06	6.84e-06	5.448e-06	8.255e-06	5.801e-05	3.46e-06	2.52e-06	2.195e-05	1.431e-05	0	2.238e-05	0	0	0	0	3.598e-06	0	5.801e-05	6.58e-06	6.57e-06	1.286e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.091	0.31834	T	0.092	0.39954	T	0.001	0.07471	B	0.015	0.17295	B	0.040509	0.24050	N	0.468823	0.994505	0.42307	D	0.605	0.15622	N	2.14	0.19450	T	-0.06	0.07882	N	0.42	0.45992	-1.1064	0.03398	T	0.038	0.16246	T	10	0.16139737	0.30274	T	0.006	0.15371	T	0.025	0.05312	0.324	0.30549	0.393316636838	0.38940	0.08036931325476114	0.07971	0.0552803104029	0.06112	0.492152035236	0.37737	T	0.046564	0.27461	T	-0.280268	0.10638	T	-0.539732	0.18323	T	0.195342466235161	0.20155	T	0.70393	0.31399	T	0.07131588	0.15781	0.0784294	0.17566	0.07131588	0.15780	0.0784294	0.17566	-5.869	0.45170	T	.	.	0.085	0.10256	B	.	.	2.556226	0.33095	19.24	0.99294743715903433	0.58397	0.98401	0.82399	D	AEFBI	0.601109	0.59348	D	-0.195316525951377	0.33329	1.88963	-0.0133803106792237	0.39110	2.313964	0.995805655162899	0.34336	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	3.69	0.41483	4.623000	0.60948	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7387:0.2613	14.928	0.70543	895	0.25842	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1091.83	34	chr2	143767996	.	G	A	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=275;ExcessHet=0;FS=5.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.307;SOR=1.352	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1102,0,1274	5	0	1	0
chr2	151251573	151251573	-	T	exonic	RBM43	.	frameshift insertion	RBM43:NM_198557:exon4:c.406dupA:p.I136Nfs*48	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	.	0.0014	0.0018	0.0003	0.0005	0.0062	0.0011	0.0011	0.0017	0.0002689	7	26028	rs142934811	0.0012	0.0097	0.0012	0.0011	0.0011	0.0011	0.0011	0.0010	0.0010	0.0004	0.0004	0.0001	0.0002	0.0068	0.0005	0.0011	0.0010	0.0008	0.0011	0.0012	0.0007	0.0015	0.0009	0.0010	0.0009	0.0007	0.0006	0.0003	0	0.0005	0	0	0.0083	0	0.0009	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	518.79	34	chr2	151251573	.	A	AT	518.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.157;DP=233;ExcessHet=0;FS=4.23;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.174;SOR=0.268	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	5	0	1	0
chr2	151252769	151252770	GA	-	exonic	RBM43	.	frameshift deletion	RBM43:NM_198557:exon3:c.300_301del:p.H101Ffs*3	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0025	0.0010	0.0002	0	0.0098	0.0032	0.0055	0.0005	0.0003842	10	26028	rs553068170	0.0032	0.0033	0.0033	0.0032	0.0037	0.0032	0.0031	0.0036	0.0036	0.0003	0.0004	7.712e-05	0	0.0082	0.0007	0.0037	0.0022	0.0004	0.0026	0.0026	0.0027	0.0025	0.0035	0.0024	0.0023	0.0031	0.0030	0.0007	0	0.0010	0	0	0.0101	0	0.0035	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	824.79	55	chr2	151252768	.	TGA	T	824.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=231;ExcessHet=0;FS=3.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.248;SOR=0.299	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	5	0	1	0
chr2	151491777	151491777	T	G	splicing	NEB	NM_001164507:exon179:c.25058-2A>C;NM_001271208:exon180:c.25163-2A>C;NM_004543:exon146:c.19454-2A>C;NM_001164508:exon179:c.25058-2A>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	1.0000	0.928	YES	541397	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866309952	2.104e-06	2.052e-06	0	4.249e-06	1.231e-05	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.374e-05	1.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.387932	0.90274	31	0.99442305612794568	0.64820	0.99672	0.98539	D	AEFDBI	.	.	.	1.15103817244404	0.98972	20.09625	1.00898274462746	0.98793	19.40104	0.999999999597429	0.74766	0.078448	0.01964	0	0.084543	0.02171	0	0.083675	0.02720	0	0.092715	0.02821	0	0.980675	0.86007	5.63	5.63	0.86108	7.961000	0.87447	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.490	0.75335	799	0.44747	.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	814.83	37	chr2	151491777	.	T	G	814.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.091;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,32:61:99:825,0,710	5	0	1	0
chr2	151508004	151508004	C	G	splicing	NEB	NM_001164507:exon162:c.23451+1G>C;NM_001271208:exon163:c.23556+1G>C;NM_004543:exon134:c.18312+1G>C;NM_001164508:exon162:c.23451+1G>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	2	1519	1	0	0	1	0.000329056	1.0000	0.936	YES	541536	Arthrogryposis_multiplex_congenita_6|Nemaline_myopathy_2	MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011425121	3.453e-06	3.42e-06	1.372e-06	5.561e-06	1.189e-05	1.01e-06	7.4e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.812e-06	3.341e-05	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.979987	0.94247	34	0.99258745494189093	0.57121	0.98271	0.81130	D	AEFBI	.	.	.	1.15333763124874	0.99006	20.24027	0.990313819073262	0.98431	18.26055	0.999999997913322	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.987926	0.96525	4.92	4.92	0.64147	7.374000	0.78887	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.012	0.92856	877	0.30165	.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	335.83	37	chr2	151508004	.	C	G	335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=204;ExcessHet=0;FS=1.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.481;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,13:31:99:346,0,468	5	0	1	0
chr2	151519669	151519669	G	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon126:c.C17440A:p.L5814I,NEB:NM_001164507:exon154:c.C22579A:p.L7527I,NEB:NM_001164508:exon154:c.C22579A:p.L7527I,NEB:NM_001271208:exon155:c.C22684A:p.L7562I	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00525163723216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.749e-06	3.421e-06	1.368e-06	4.142e-06	1.162e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	9.038e-07	3.325e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.14159	T	0.226	0.33442	T	0.039	0.21116	B	0.045	0.24526	B	0.000002	0.62929	D	0.058228	0.999673	0.48205	D	1.155	0.29575	L	3.17	0.08547	T	-0.65	0.23372	N	0.261	0.34336	-1.1129	0.02832	T	0.025	0.10643	T	10	0.17571166	0.32518	T	0.005252	0.13402	T	0.096	0.27654	0.24	0.17218	0.546306241058	0.54285	0.6078074934973864	0.60712	0.0926473363158	0.10463	0.614982247353	0.55019	T	0.018006	0.53460	T	-0.1864	0.22787	T	-0.505527	0.21774	T	0.788127601146698	0.45567	D	0.813919	0.51127	T	0.10451953	0.24709	0.11637142	0.28092	0.10451953	0.24708	0.11637142	0.28091	-6.191	0.50387	T	.	.	0.091	0.12938	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.045723	0.40845	21.2	0.98731045474576995	0.45348	0.89802	0.50505	D	AEFBI	0.376334	0.46052	N	0.245376205262128	0.53409	3.510018	0.390658300287541	0.60989	4.292831	0.905851984285252	0.26215	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	6.16	5.28	0.74118	3.789000	0.55159	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0734:0.0:0.7498:0.1768	9.596	0.38739	869	0.31655	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1383.83	39	chr2	151519669	.	G	T	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.338;DP=333;ExcessHet=0;FS=2.087;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.491;SOR=0.846	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1394,0,2215	5	0	1	0
chr2	151576351	151576351	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon78:c.C11569T:p.L3857F,NEB:NM_001164507:exon106:c.C16708T:p.L5570F,NEB:NM_001164508:exon106:c.C16708T:p.L5570F,NEB:NM_001271208:exon106:c.C16708T:p.L5570F	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2109080	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.039732401768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.969e-07	1.368e-06	1.384e-06	0	9.134e-07	0	0	.	.	0	0	0	0	0	0	9.134e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.006	0.70582	D	0.027	0.19556	B	0.281	0.40336	B	0.000009	0.62929	D	0.108633	0.724154	0.33649	D	1.08	0.27187	L	0.64	0.52867	T	-0.71	0.35792	N	0.233	0.28028	-1.0434	0.16294	T	0.089	0.34353	T	10	0.14483106	0.27480	T	0.039732	0.58980	D	0.163	0.42028	0.475	0.55182	0.370051654043	0.36618	0.14148972241533037	0.14071	0.274579088507	0.29952	0.43760997057	0.30251	T	0.01561	0.37984	T	-0.117166	0.33589	T	-0.406077	0.32680	T	0.84323924779892	0.49594	D	0.247375	0.23144	T	0.076196775	0.17217	0.06140547	0.11853	0.076196775	0.17216	0.06140547	0.11852	-6.058	0.48872	T	.	.	0.202	0.42635	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.112967	0.26894	17.27	0.99370084071276588	0.61411	0.80294	0.39970	D	AEFBI	0.310362	0.41640	N	-0.433897499628256	0.24288	1.310452	-0.237938621742386	0.30188	1.69764	0.163528157529396	0.17629	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	4.89	0.63387	1.061000	0.30152	.	.	-0.140000	0.12423	0.835000	0.30208	0.572000	0.25577	0.924000	0.46004	0.0:0.1691:0.1973:0.6336	4.266	0.10210	905	0.23532	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	329.83	36	chr2	151576351	.	G	A	329.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.187;DP=179;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.351;SOR=0.296	GT:AD:DP:GQ:PL	0/0:31,0:31:75:0,75,1125	5	0	1	0
chr2	151678027	151678027	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon33:c.C3416T:p.T1139M,NEB:NM_001164508:exon33:c.C3416T:p.T1139M,NEB:NM_001271208:exon33:c.C3416T:p.T1139M,NEB:NM_004543:exon33:c.C3416T:p.T1139M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	282180	not_specified|Inborn_genetic_diseases|Nemaline_myopathy_2|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.123	0.0383930926462	.	0.000599042	9.95e-05	0.0001	0.0003	0	0	7.502e-05	0	0.0002	0.0001035	16	154602	rs181244403	8.278e-05	8.277e-05	8.849e-05	7.702e-05	0.0002	7.07e-05	6.619e-05	9.791e-05	7.838e-05	2.987e-05	0.0002	0	0	0	0	8.454e-05	6.626e-05	0.0002	0.0001	0.0001	0.0001	8.061e-05	0.0002	6.51e-05	5.322e-05	9.049e-05	7.013e-05	4.817e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.014	0.53172	D	0.0	0.92824	D	0.992	0.64738	D	0.748	0.55971	P	0.000000	0.84330	D	0.052668	0.999859	0.49910	D	1.95	0.52479	M	1.51	0.30937	T	-2.56	0.56301	D	0.674	0.68777	-1.0600	0.11756	T	0.099	0.36882	T	10	0.4306787	0.57469	T	0.038393	0.58198	D	0.123	0.34020	.	.	0.463928626847	0.46019	0.49322904400404616	0.49243	0.306086603298	0.32911	0.351074397564	0.18080	T	0.138749	0.75369	T	-0.365641	0.03821	T	-0.470845	0.25425	T	0.338794052600861	0.26576	T	0.910209	0.74506	D	0.1340983	0.31169	0.1260299	0.30359	0.1340983	0.31168	0.1260299	0.30358	-5.628	0.43048	T	.	.	0.076	0.05935	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.084850	0.41513	21.4	0.99852292004536469	0.93191	0.93921	0.59578	D	AEFBI	0.438130	0.49765	N	0.338456413757822	0.58134	3.98387	0.327691200861931	0.57172	3.882171	0.999714208412606	0.42101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	4.71	0.59010	3.931000	0.56242	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.1472:0.0:0.8528:0.0	11.603	0.50272	861	0.33516	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2154.83	33	chr2	151678027	.	G	A	2154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=329;ExcessHet=0;FS=2.003;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.155;SOR=0.543	GT:AD:DP:GQ:PL	0/1:81,78:159:99:2165,0,2028	5	0	1	0
chr2	152676556	152676556	T	C	exonic	PRPF40A	.	nonsynonymous SNV	PRPF40A:NM_001365598:exon9:c.A952G:p.I318V,PRPF40A:NM_001365599:exon9:c.A952G:p.I318V,PRPF40A:NM_001365601:exon9:c.A826G:p.I276V,PRPF40A:NM_001354431:exon10:c.A826G:p.I276V,PRPF40A:NM_001365596:exon10:c.A1006G:p.I336V,PRPF40A:NM_001365597:exon10:c.A1006G:p.I336V,PRPF40A:NM_001365600:exon10:c.A880G:p.I294V,PRPF40A:NM_001365604:exon10:c.A658G:p.I220V,PRPF40A:NM_001365605:exon10:c.A658G:p.I220V,PRPF40A:NM_017892:exon10:c.A880G:p.I294V,PRPF40A:NM_001365602:exon11:c.A712G:p.I238V,PRPF40A:NM_001365603:exon11:c.A712G:p.I238V,PRPF40A:NM_001354432:exon12:c.A664G:p.I222V	.	423	1098	1	0	0	1	0.000455166	.	.	.	2360238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00468595367359	0.0005	0.000599042	0.0003	0.0007	0	0	0	0.0005	0	0	0.0002458	38	154602	rs199801313	0.0005	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0005	0.0005	0.0002	0.0005	0	0	2.001e-05	0.0005	0.0006	0.0003	0	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0007	0	0	0	0	0.0006	0.0014	0.0002	0.779	0.20306	T	0.335	0.18286	T	.	.	.	.	.	.	0.011592	0.29474	N	0.382752	0.73462	0.29795	N	.	.	.	.	.	.	0.29	0.04161	N	.	.	-1.0681	0.09836	T	0.035	0.15160	T	10	0.020445287	0.00471	T	0.004686	0.11628	T	0.045	0.12272	.	.	0.302481332339	0.29867	0.1051470948914888	0.10444	0.53791415256	0.51068	0.57735478878	0.49714	T	.	.	.	-0.454468	0.01063	T	-0.509861	0.21330	T	0.0295334694663161	0.01918	T	0.80202	0.65583	T	.	.	.	.	.	.	.	.	-1.694	0.02213	T	.	.	0.069	0.03625	B	.;.;.;.	.;.;.;.	2.916138	0.38697	20.8	0.97735708619033057	0.35646	0.70368	0.34562	D	AEFBIJ	0.113202	0.22345	N	-0.268745364970264	0.30362	1.692244	-0.0429847775779959	0.37796	2.217825	0.99991628602179	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	2.049000	0.40912	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0864:0.0:0.9136	8.818	0.34163	343	0.85802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1254.83	88	chr2	152676556	.	T	C	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.358;DP=266;ExcessHet=0;FS=2.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=1.03;SOR=0.418	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	5	0	1	0
chr2	157259242	157259242	G	A	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon1:c.G1160A:p.G387E	.	427	1088	7	0	0	7	0.0032066	.	.	.	2314308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0107647645289	0.0002	.	0.0005	9.81e-05	0.0002	0	0.0002	0.0006	0.0012	0.0008	0.000401	62	154602	rs148659459	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0002	0.0004	0.0057	0	1.88e-05	0.0045	0.0001	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	7.219e-05	0	0.0005	0.0052	0	0	0.0034	0.0002	0.0009	0.0004	0.726	0.03857	T	0.79	0.04194	T	0.003	0.11197	B	0.005	0.11217	B	0.003505	0.00967	N	2.608420	1	0.08975	N	0.55	0.14455	N	0.39	0.57419	T	-0.96	0.25551	N	0.051	0.02272	-1.0479	0.14988	T	0.081	0.31943	T	10	0.0052696466	0.00115	T	0.010765	0.27663	T	0.026	0.05648	.	.	0.363751660372	0.35992	0.24062311672496817	0.23976	0.143322883005	0.16171	0.223089188337	0.01496	T	0.007241	0.06655	T	-0.511823	0.00490	T	-0.628037	0.10564	T	0.00813521896363165	0.00097	T	0.489851	0.15048	T	0.06545898	0.13992	0.068577215	0.14340	0.06545898	0.13992	0.068577215	0.14340	-3.359	0.14510	T	.	.	0.067	0.02428	B	.	.	-0.584783	0.01613	0.110	0.42212235252667135	0.03096	0.04937	0.10695	N	AEFBCI	0.035633	0.04621	N	-1.22670693354396	0.04616	0.2087019	-1.24708719781339	0.05174	0.2459058	0.999876662720086	0.44625	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.95	-3.16	0.04897	-0.839000	0.04475	-1.010000	0.06616	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.498:0.1078:0.3942:0.0	7.702	0.27791	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	1009.83	42	chr2	157259242	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.62;DP=290;ExcessHet=0;FS=2.608;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.36;SOR=0.99	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1257	5	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.08333	760.83	37	chr2	157799450	.	G	C	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.672;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.473;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1225	5	0	1	0
chr2	158680478	158680478	A	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon21:c.A3251T:p.D1084V,PKP4:NM_001377225:exon21:c.A3251T:p.D1084V,PKP4:NM_001377226:exon21:c.A3248T:p.D1083V,PKP4:NM_001304969:exon22:c.A3377T:p.D1126V,PKP4:NM_001304970:exon22:c.A2351T:p.D784V,PKP4:NM_001377218:exon22:c.A3380T:p.D1127V,PKP4:NM_001377219:exon22:c.A3377T:p.D1126V,PKP4:NM_001377222:exon22:c.A3374T:p.D1125V,PKP4:NM_001377223:exon22:c.A3374T:p.D1125V,PKP4:NM_001377224:exon22:c.A3371T:p.D1124V,PKP4:NM_003628:exon22:c.A3380T:p.D1127V,PKP4:NM_001377220:exon23:c.A3377T:p.D1126V,PKP4:NM_001377221:exon23:c.A3377T:p.D1126V	.	455	1052	11	4	0	19	0.0089496	.	.	.	719333	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.646	0.106998707454	0.0036	0.00159744	0.0032	0.0005	0.0013	0	0.0003	0.0053	0	0.0010	0.0033311	515	154602	rs148782148	0.0043	0.0043	0.0044	0.0042	0.0057	0.0042	0.0042	0.0050	0.0049	0.0008	0.0025	0.0033	0	0.0011	0.0057	0.0051	0.0039	0.0010	0.0033	0.0033	0.0032	0.0035	0.0059	0.0031	0.0030	0.0050	0.0046	0.0008	0.0318	0.0059	0.0017	0	0.0005	0.0408	0.0047	0.0024	0.0004	0.001	0.78490	D	0.006	0.70582	D	0.999	0.90584	D	0.952	0.71741	D	0.027796	0.25702	N	0.416960	1	0.81001	D	1.59	0.40313	L	-1.1	0.77336	T	-2.49	0.60665	N	0.83	0.82559	-0.0623	0.80944	T	0.387	0.74246	T	10	0.009985596	0.00224	T	0.106999	0.78287	D	0.646	0.86586	.	.	0.93031684865	0.92960	0.7301227855729024	0.72957	0.845700684657	0.68286	0.654403448105	0.60611	T	0.207492	0.83003	T	0.0278741	0.55439	T	0.27057	0.86605	D	0.0291081936171927	0.01854	T	0.986301	0.95349	D	0.30877057	0.53680	0.3825057	0.63235	0.30877057	0.53680	0.3825057	0.63235	-6.845	0.52893	T	.	.	0.672	0.74816	P	.;.;.	.;.;.	4.566385	0.72000	25.8	0.99465783778614858	0.66049	0.99041	0.90363	D	AEFGBI	0.924285	0.90208	D	0.656005042019324	0.76759	6.545936	0.700162305018979	0.82392	7.755	0.999999484586198	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	8.867000	0.91934	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.889	0.79069	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.020408	0.006793	0.000000	0.000000	0.017241	0.018293	0.003788	0.08333	1428.83	33	chr2	158680478	.	A	T	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.979;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.837;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	5	0	1	0
chr2	159065911	159065911	A	G	exonic	TANC1	.	startloss	TANC1:NM_001145909:exon3:c.A1G:p.M1?,TANC1:NM_001350062:exon3:c.A1G:p.M1?,TANC1:NM_001350063:exon3:c.A1G:p.M1?,TANC1:NM_001350064:exon3:c.A1G:p.M1?,TANC1:NM_033394:exon3:c.A1G:p.M1?,TANC1:NM_001350065:exon4:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590	0.393636820189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	0.713	0.42139	P	0.761	0.56482	P	0.000585	0.43095	D	0.165528	0.999987	0.81001	D	.	.	.	-0.48	0.70249	T	-0.74	0.20791	N	0.967	0.97750	0.194	0.85808	D	0.565	0.84216	D	9	0.9303113	0.92372	D	0.393637	0.93244	D	0.590	0.83636	0.714	0.84962	0.740005560949	0.73767	0.11963488415654328	0.11890	.	.	.	.	.	0.108722	0.42200	T	0.360862	0.87320	D	0.280577	0.87156	D	0.990335702896118	0.80552	D	0.9	0.65058	D	0.80117404	0.83980	0.6641435	0.80311	0.80117404	0.83982	0.6641435	0.80312	-2.556	0.06176	T	.	.	.	.	.	.	.	3.267190	0.44703	22.0	0.98969287046710375	0.49501	0.97419	0.74630	D	AEFDBI	0.064732	0.12586	N	0.572950704111807	0.71488	5.658786	0.613445888615954	0.75917	6.39589	0.999999998671287	0.74766	0.645754	0.44609	0	0.588066	0.40923	0	0.675528	0.61593	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.073000	0.70878	11.285000	0.91876	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.427	0.66793	805	0.43675	.	.	.	.	.	.	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	224.83	22	chr2	159065911	.	A	G	224.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.535;DP=162;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.991;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	5	0	1	0
chr2	159229781	159229781	A	C	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.A3752C:p.D1251A,TANC1:NM_001350063:exon25:c.A3986C:p.D1329A,TANC1:NM_001350064:exon27:c.A4334C:p.D1445A,TANC1:NM_033394:exon27:c.A4355C:p.D1452A,TANC1:NM_001350065:exon28:c.A4334C:p.D1445A	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.03919538197	.	0.000199681	0.0003	0	0	0	0	2.998e-05	0	0.0018	0.0002135	33	154602	rs573688021	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0	6.025e-05	0.0001	0.0016	5.264e-05	5.253e-05	2.574e-05	8.076e-05	0.0010	2.56e-05	1.832e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.413e-05	0	0.0010	0.014	0.53172	D	0.041	0.50514	D	0.666	0.41077	P	0.112	0.31615	B	0.000027	0.55875	D	0.155728	0.62186	0.33313	D	1.7	0.43825	L	-0.46	0.70014	T	-2.53	0.54864	D	0.328	0.36884	-0.6324	0.63468	T	0.168	0.50713	T	9	0.0200575	0.00456	T	0.039195	0.58670	D	0.274	0.59007	0.155	0.05858	0.622170985595	0.61910	0.43336210194239616	0.43253	0.237743367185	0.26321	0.419932305813	0.27826	T	0.168052	0.51491	T	-0.269731	0.11786	T	-0.190305	0.55562	T	0.0812297477490976	0.10144	T	0.664534	0.27348	T	0.18859491	0.40365	0.12002895	0.28970	0.18859491	0.40364	0.12002895	0.28969	-4.696	0.33355	T	.	.	0.091	0.12891	B	.	.	2.010253	0.25543	16.80	0.9881716923363999	0.46720	0.99577	0.97626	D	AEFDBI	0.581003	0.58119	D	0.131960438870726	0.47958	3.014425	0.23263632416636	0.51667	3.347274	0.999999997013869	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	2.686000	0.46634	9.311000	0.79959	0.756000	0.94297	0.951000	0.33123	1.000000	0.68203	0.029000	0.12982	0.9289:0.0:0.071:0.0	10.660	0.44890	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	1505.83	35	chr2	159229781	.	A	C	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=286;ExcessHet=0;FS=4.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.897;SOR=0.757	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	5	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	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	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.08333	3321.83	219	chr2	159350063	.	C	T	3321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=410;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.452;SOR=1.039	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	5	0	1	0
chr2	159748770	159748770	A	G	exonic	MARCHF7	.	nonsynonymous SNV	MARCHF7:NM_001376251:exon3:c.A1093G:p.S365G,MARCHF7:NM_001376254:exon3:c.A1093G:p.S365G,MARCHF7:NM_001376255:exon3:c.A910G:p.S304G,MARCHF7:NM_001282806:exon4:c.A1312G:p.S438G,MARCHF7:NM_001282807:exon4:c.A1366G:p.S456G,MARCHF7:NM_001376247:exon4:c.A1312G:p.S438G,MARCHF7:NM_001376248:exon4:c.A1312G:p.S438G,MARCHF7:NM_001376249:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376250:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376252:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376253:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376240:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376242:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376243:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376244:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376245:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376246:exon5:c.A1411G:p.S471G,MARCHF7:NM_022826:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376234:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376237:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376238:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376239:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376241:exon6:c.A1480G:p.S494G,MARCHF7:NM_001282805:exon7:c.A1480G:p.S494G,MARCHF7:NM_001376235:exon7:c.A1480G:p.S494G,MARCHF7:NM_001376236:exon7:c.A1480G:p.S494G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00647606055179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.231	0.30614	B	0.118	0.32088	B	0.001895	0.37740	N	0.337088	0.993389	0.41923	D	1.59	0.40313	L	2.56	0.13916	T	-1.03	0.30555	N	0.291	0.37301	-1.1352	0.01549	T	0.045	0.19478	T	10	0.2163513	0.38215	T	0.006476	0.17043	T	0.054	0.15330	0.284	0.24121	0.221890330934	0.21812	0.23799956940729441	0.23713	0.0384918071318	0.04097	0.353240847588	0.18398	T	0.025218	0.55714	T	-0.201527	0.20586	T	-0.527256	0.19561	T	0.5117990737276	0.33064	D	0.905309	0.66640	D	0.09771418	0.23037	0.09896257	0.23611	0.09771418	0.23037	0.09896257	0.23610	-3.252	0.13126	T	.	.	0.071	0.04396	B	.;.;.;.	.;.;.;.	3.165896	0.42909	21.6	0.99575012275894126	0.72621	0.98912	0.88526	D	AEFBI	0.669227	0.63673	D	0.133925141022028	0.48050	3.022448	0.279944700117393	0.54371	3.602154	0.99999999561193	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	5.109000	0.64456	8.068000	0.76428	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	1.0:0.0:0.0:0.0	16.120	0.81152	768	0.49510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	805.83	41	chr2	159748770	.	A	G	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.83;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-0.391;SOR=0.717	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr2	161974316	161974316	G	A	exonic	SLC4A10	.	nonsynonymous SNV	SLC4A10:NM_001354453:exon22:c.G2990A:p.R997K,SLC4A10:NM_001354446:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001354449:exon23:c.G3134A:p.R1045K,SLC4A10:NM_001354450:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001354451:exon23:c.G3134A:p.R1045K,SLC4A10:NM_022058:exon23:c.G3137A:p.R1046K,SLC4A10:NM_001178015:exon24:c.G3227A:p.R1076K,SLC4A10:NM_001178016:exon24:c.G3170A:p.R1057K,SLC4A10:NM_001354440:exon24:c.G3227A:p.R1076K,SLC4A10:NM_001354443:exon24:c.G3173A:p.R1058K,SLC4A10:NM_001354444:exon24:c.G3224A:p.R1075K,SLC4A10:NM_001354445:exon24:c.G3170A:p.R1057K,SLC4A10:NM_001354448:exon24:c.G3167A:p.R1056K,SLC4A10:NM_001354455:exon24:c.G2558A:p.R853K,SLC4A10:NM_001354441:exon25:c.G3260A:p.R1087K,SLC4A10:NM_001354442:exon25:c.G3260A:p.R1087K,SLC4A10:NM_001354447:exon25:c.G3173A:p.R1058K,SLC4A10:NM_001354460:exon25:c.G3263A:p.R1088K,SLC4A10:NM_001354461:exon26:c.G3263A:p.R1088K	.	.	.	.	.	.	.	.	0.9690	0.888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	.	.	0.000399361	7.343e-05	0	0.0006	0	0	5.468e-05	0	0	4.53e-05	7	154602	rs182913811	9.668e-06	9.577e-06	9.603e-06	9.734e-06	0.0002	5.61e-06	4.39e-06	9.33e-05	6.793e-05	0	0.0002	0	0	0	0.0002	2.713e-06	3.337e-05	0	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0011	0.0010	2.408e-05	0	0.0016	0	0	0	0	0	0.0009	0	0.352	0.12226	T	0.652	0.06690	T	0.001	0.09854	B	0.003	0.11217	B	0.003500	0.34874	N	0.302849	0.992341	0.81001	D	-0.06	0.04898	N	-1.15	0.78082	T	-0.06	0.08495	N	0.311	0.35088	-0.8773	0.49974	T	0.153	0.48188	T	10	0.032296956	0.01379	T	0.016108	0.37202	T	0.226	0.52472	.	.	0.683511509103	0.68081	0.35264575861915964	0.35178	0.0103014648276	0.00949	0.712126493454	0.68901	T	0.00209	0.32449	T	-0.190848	0.22133	T	-0.252238	0.49596	T	0.0788178667426109	0.09836	T	0.625537	0.24174	T	0.1388659	0.32100	0.114588805	0.27661	0.1388659	0.32100	0.114588805	0.27660	-2.028	0.03428	T	.	.	0.087	0.17275	B	.;.;.;.	.;.;.;.	3.515067	0.49240	22.7	0.94876391788121872	0.25703	0.91609	0.53886	D	AEFBI	0.727270	0.67566	D	-0.461595473604376	0.23349	1.253196	-0.25415926270798	0.29628	1.661456	0.991387515944391	0.32470	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.38	4.5	0.54382	3.899000	0.56000	8.653000	0.77941	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0721:0.0:0.9279:0.0	14.303	0.65922	486	0.77016	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	510.83	37	chr2	161974316	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.49;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=2.13;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	5	0	1	0
chr2	162008613	162008613	C	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379606:exon21:c.G1882A:p.V628M,DPP4:NM_001379604:exon22:c.G1933A:p.V645M,DPP4:NM_001379605:exon22:c.G1930A:p.V644M,DPP4:NM_001935:exon22:c.G1936A:p.V646M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0328063903495	.	.	4.124e-05	0	0	0.0003	0	2.999e-05	0	0	3.88e-05	6	154602	rs777468645	9.579e-06	9.577e-06	1.362e-05	5.501e-06	5.039e-05	5.56e-06	4.35e-06	8.35e-06	3.32e-06	0	0	0	5.039e-05	1.872e-05	0	8.995e-06	1.656e-05	0	6.579e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.988	0.77976	D	0.000069	0.52346	D	0.125508	0.992729	0.41725	D	2.48	0.72069	M	1.48	0.31731	T	-1.17	0.29933	N	0.691	0.69649	-0.7557	0.57636	T	0.182	0.53026	T	10	0.697182	0.72217	D	0.032806	0.54533	D	0.246	0.55340	0.488	0.57257	0.397838977388	0.39401	0.8085946017599988	0.80814	0.604475603728	0.55385	0.584115207195	0.50665	T	0.386	0.74742	T	-0.21931	0.18088	T	-0.327098	0.41791	T	0.518309678929911	0.33303	D	0.852015	0.53695	D	0.4891351	0.66450	0.25512335	0.51189	0.4891351	0.66451	0.25512335	0.51189	-7.591	0.58248	D	.	.	0.149	0.33039	B	.	.	4.397387	0.67920	25.2	0.99897684005029974	0.97048	0.86663	0.45991	D	AEFDBI	0.343981	0.43962	N	0.6234512076339	0.74659	6.170632	0.575496882290993	0.73187	5.929755	0.99953032296838	0.40238	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.84	4.96	0.65153	2.632000	0.46177	0.408000	0.18078	0.599000	0.40250	0.987000	0.36337	0.029000	0.21193	0.994000	0.71098	0.2615:0.6685:0.0:0.0699	8.566	0.32699	493	0.76500	Peptidase S9, prolyl oligopeptidase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	863.83	69	chr2	162008613	.	C	T	863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.444;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1337	5	0	1	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E,DPP4:NM_001379605:exon4:c.T189A:p.D63E,DPP4:NM_001379606:exon4:c.T195A:p.D65E,DPP4:NM_001935:exon4:c.T195A:p.D65E	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.005102	0.000000	0.002941	0.000000	0.000000	0.003067	0.003788	0.08333	467.83	36	chr2	162047005	.	A	T	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=227;ExcessHet=0;FS=6.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.651;SOR=1.885	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	5	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L,FAP:NM_004460:exon8:c.T553C:p.F185L	.	444	1071	6	1	0	8	0.00372093	.	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.008152	0.002924	0.000000	0.000000	0.018293	0.007576	0.08333	386.83	34	chr2	162219117	.	A	G	386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.957;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.794;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	5	0	1	0
chr2	162288184	162288184	T	C	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon5:c.A1046G:p.K349R	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	423	1081	17	1	0	19	0.0087116	.	.	.	516633	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_specified|Immunodeficiency_95|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:CN169374|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0014	0.00319489	0.0035	0.0002	0.0012	0.0002	0	0.0013	0.0011	0.0197	0.0030918	478	154602	rs72650664	0.0026	0.0026	0.0021	0.0032	0.0198	0.0026	0.0025	0.0190	0.0187	0.0002	0.0010	0	0.0001	0	0.0056	0.0017	0.0026	0.0198	0.0018	0.0018	0.0016	0.0019	0.0213	0.0016	0.0015	0.0180	0.0167	0.0004	0	0.0025	0	0	9.42e-05	0.0068	0.0016	0.0005	0.0213	0.318	0.13654	T	0.442	0.13252	T	0.345	0.33546	B	0.195	0.36592	B	0.000439	0.44522	D	0.283615	0.862363	0.35411	D	0.435	0.12660	N	0.59	0.53943	T	-0.88	0.23808	N	0.187	0.20395	-0.8860	0.49273	T	0.117	0.41275	T	10	0.0059061646	0.00132	T	.	.	.	0.039	0.10176	.	.	0.713835922619	0.71132	0.2978720611958331	0.29700	0.0240516948503	0.02442	0.348664283752	0.17725	T	0.07048	0.33971	T	-0.463956	0.00928	T	-0.424281	0.30586	T	0.019399027718068	0.00645	T	0.740726	0.36032	T	0.15416744	0.34909	0.24077097	0.49458	0.21934694	0.44464	0.27207413	0.53114	-5.922	0.45622	T	0.1792702559365503	0.23016	0.070	0.04932	B	.;.;.	.;.;.	2.599599	0.33743	19.43	0.99713461923194302	0.81493	0.87483	0.47037	D	AEFBI	0.340597	0.43736	N	0.0140602945220666	0.42495	2.561443	0.202967507889714	0.50013	3.197745	0.999781443330021	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	2.325000	0.43499	1.945000	0.29852	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.445	0.83760	594	0.68584	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	771.83	37	chr2	162288184	.	T	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.025;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.356;SOR=0.623	GT:AD:DP:GQ:PL	0/1:39,33:72:99:782,0,1025	5	0	1	0
chr2	164694618	164694618	G	A	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.C2774T:p.S925F,COBLL1:NM_001278460:exon12:c.C2912T:p.S971F,COBLL1:NM_001365670:exon12:c.C2909T:p.S970F,COBLL1:NM_001365672:exon12:c.C2774T:p.S925F,COBLL1:NM_001365673:exon12:c.C2774T:p.S925F,COBLL1:NM_014900:exon12:c.C2888T:p.S963F,COBLL1:NM_001365671:exon13:c.C2951T:p.S984F,COBLL1:NM_001365674:exon13:c.C2813T:p.S938F,COBLL1:NM_001365675:exon13:c.C2813T:p.S938F,COBLL1:NM_001278458:exon15:c.C3089T:p.S1030F	.	429	1065	28	0	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.0113818	0.0053	0	0.0010	0.0285	0	0.0011	0.0033	0.0187	0.0049094	759	154602	rs139834711	0.0027	0.0027	0.0022	0.0032	0.0220	0.0027	0.0026	0.0208	0.0203	0.0002	0.0006	0.0009	0.0220	1.873e-05	0.0040	0.0011	0.0040	0.0177	0.0023	0.0023	0.0020	0.0027	0.0281	0.0021	0.0020	0.0243	0.0229	0.0002	0	0.0007	0.0009	0.0281	9.423e-05	0.0068	0.0010	0.0033	0.0218	0.37	0.11550	T	0.187	0.28958	T	0.007	0.14184	B	0.004	0.10090	B	0.083814	0.02382	N	1.790450	1	0.08975	N	1.245	0.31408	L	.	.	.	-3.06	0.63090	D	0.102	0.12913	-1.0796	0.07426	T	0.045	0.19234	T	9	0.002996415	0.00049	T	.	.	.	0.054	0.15330	.	.	0.258283824007	0.25425	0.1673364255181345	0.16653	0.0553219456686	0.06117	0.243705034256	0.03133	T	0.037908	0.25130	T	-0.606278	0.00133	T	-0.619968	0.11187	T	0.00753872559726111	0.00087	T	0.80472	0.45238	T	0.052991092	0.09962	0.071185134	0.15215	0.052991092	0.09962	0.071185134	0.15214	-4.632	0.32571	T	.	.	0.114	0.22500	B	.;.;.;.	.;.;.;.	0.549563	0.09179	5.964	0.37114367526788122	0.02426	0.05162	0.10977	N	AEFDBHCI	0.111471	0.22069	N	-0.902599631663384	0.10780	0.5169067	-0.962722654040304	0.10629	0.5365492	0.999995796717324	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.467745	0.07146	0	0.635551	0.53088	0	.	.	5.41	-0.307	0.12143	0.081000	0.14677	1.559000	0.27344	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.055000	0.15596	0.3256:0.2795:0.3949:0.0	5.407	0.15626	874	0.30607	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.015152	0.08333	1034.83	37	chr2	164694618	.	G	A	1034.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.03;DP=242;ExcessHet=0;FS=4.86;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.25;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr2	164937402	164937402	T	C	exonic	SLC38A11	.	nonsynonymous SNV	SLC38A11:NM_001351539:exon4:c.A199G:p.T67A,SLC38A11:NM_173512:exon5:c.A331G:p.T111A,SLC38A11:NM_001199148:exon6:c.A397G:p.T133A,SLC38A11:NM_001351537:exon7:c.A565G:p.T189A,SLC38A11:NM_001351538:exon8:c.A397G:p.T133A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	7.7e-05	0.0109824	0.0029	0	0.0002	0.0232	0	1.503e-05	0	0.0092	0.0027878	431	154602	rs77858556	0.0024	0.0024	0.0022	0.0026	0.0645	0.0023	0.0023	0.0625	0.0616	2.995e-05	0.0002	0	0.0645	0	0.0010	1.892e-05	0.0020	0.0083	0.0016	0.0016	0.0013	0.0019	0.0369	0.0015	0.0014	0.0326	0.0310	7.223e-05	0	0.0004	0	0.0369	0	0	1.47e-05	0	0.0099	1.0	0.05501	T	0.593	0.08134	T	0.0	0.02946	B	0.002	0.10090	B	0.823651	0.09159	N	0.931910	0.999984	0.18198	N	-0.315	0.03579	N	4.51	0.02015	T	0.03	0.13035	N	0.186	0.20262	-0.9112	0.46707	T	0.001	0.00222	T	10	0.0044716895	0.00092	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.31614972177139683	0.31527	0.0951305488182	0.10736	0.324859380722	0.14156	T	0.002227	0.01623	T	-0.671223	0.00054	T	-0.650089	0.08948	T	0.00378350674727448	0.00040	T	0.484552	0.16117	T	0.05130575	0.09403	0.04003212	0.04233	0.05130575	0.09403	0.04003212	0.04233	-2.379	0.05006	T	.	.	0.062	0.01252	B	.;.;.;.;.	.;.;.;.;.	0.062988	0.04735	1.363	0.52168828235776088	0.04697	0.05407	0.11276	N	AEFGBCI	0.069747	0.13818	N	-1.10198935482598	0.06608	0.3046604	-0.990372118202781	0.10001	0.5009656	0.995262179049995	0.34034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	-0.571	0.11161	-0.310000	0.08175	-0.223000	0.10745	-1.009000	0.01772	0.097000	0.22731	0.000000	0.08366	0.805000	0.37950	0.1359:0.418:0.0:0.4461	5.679	0.17036	776	0.48302	.;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	1056.83	33	chr2	164937402	.	T	C	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=255;ExcessHet=0;FS=3.218;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.16;SOR=1.167	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	5	0	1	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	8	1446	61	7	0	75	0.0252781	.	.	.	136097	not_provided|Nephronophthisis_12|Asphyxiating_thoracic_dystrophy_4|not_specified|Nephronophthisis|Jeune_thoracic_dystrophy|Connective_tissue_disorder	MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.000000	0.014946	0.043860	0.050000	0.017241	0.021341	0.030303	0.08333	1161.83	75	chr2	165917310	.	G	A	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.436;DP=249;ExcessHet=0;FS=2.111;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.668;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	5	0	1	0
chr2	170852781	170852781	G	T	exonic	GAD1	.	nonsynonymous SNV	GAD1:NM_000817:exon13:c.G1252T:p.V418F	.	0	1505	15	1	1	18	0.00561612	.	.	.	285646	not_provided|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|Inborn_genetic_diseases|GAD1-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0396181188737	.	0.00139776	0.0006	0.0005	0.0003	0	0.0006	0.0007	0.0011	0.0008	0.0005821	90	154602	rs143058194	0.0004	0.0004	0.0004	0.0004	0.0049	0.0004	0.0004	0.0034	0.0030	0.0013	0.0008	0	2.519e-05	0.0004	0.0049	0.0003	0.0012	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0011	0	0.0036	0	0.0002	0.0004	0	0.0005	0.0043	0.0019	0.392	0.10766	T	0.338	0.18125	T	0.983	0.60381	D	0.946	0.68276	D	0.000884	0.41231	D	0.243493	0.999935	0.51612	D	1.755	0.45626	L	0.9	0.45248	T	-0.15	0.09297	N	0.834	0.82964	-0.9186	0.45743	T	0.143	0.46422	T	10	0.19945809	0.35955	T	0.039618	0.58911	D	0.261	0.57352	.	.	0.857758316545	0.85638	0.9406694121886269	0.94047	1.62337499068	0.89093	0.46767115593	0.34360	T	0.286017	0.65880	T	-0.262774	0.12578	T	-0.209425	0.53750	T	0.0248542474123744	0.01253	T	0.958604	0.84374	D	0.34145865	0.56396	0.080097124	0.18091	0.33693433	0.56034	0.07277248	0.15737	-9.078	0.68197	D	0.1892777638911215	0.24753	0.209	0.43680	B	.	.	3.382320	0.46789	22.4	0.9825612410250999	0.39621	0.91298	0.53252	D	AEFDBI	0.268318	0.38484	N	0.144387257252125	0.48546	3.066	0.130135011612821	0.46098	2.861411	0.280740583474554	0.18986	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.91	3.15	0.35301	1.754000	0.37998	3.525000	0.38921	-1.503000	0.01026	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.1949:0.115:0.5715:0.1185	3.329	0.06664	448	0.79501	Pyridoxal-phosphate binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1393.83	34	chr2	170852781	.	G	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=253;ExcessHet=0;FS=3.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.572;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	1	0
chr2	172491072	172491072	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon21:c.G2728A:p.D910N,ITGA6:NM_001079818:exon21:c.G2728A:p.D910N,ITGA6:NM_001316306:exon21:c.G2371A:p.D791N,ITGA6:NM_001365529:exon21:c.G2683A:p.D895N,ITGA6:NM_001365530:exon21:c.G2683A:p.D895N	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	1	1494	24	3	0	30	0.00994036	.	.	.	283701	Junctional_epidermolysis_bullosa_with_pyloric_atresia|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0101160725306	0.0051	0.00239617	0.0049	0.0014	0.0048	0	0.0024	0.0072	0.0088	0.0010	0.0048318	747	154602	rs61737182	0.0063	0.0066	0.0064	0.0062	0.0079	0.0062	0.0061	0.0070	0.0069	0.0012	0.0058	0.0125	0	0.0033	0.0079	0.0071	0.0064	0.0009	0.0051	0.0051	0.0054	0.0048	0.0075	0.0048	0.0047	0.0069	0.0067	0.0016	0	0.0062	0.0133	0	0.0027	0.0238	0.0075	0.0104	0.0006	0.33	0.18000	T	0.474	0.12107	T	0.034	0.20480	B	0.085	0.29395	B	0.149179	0.18026	N	0.611073	1	0.08975	N	1.59	0.40313	L	0.77	0.49642	T	-0.37	0.17210	N	0.137	0.13484	-1.0457	0.15621	T	0.073	0.29515	T	10	0.0038841367	0.00074	T	0.010116	0.26280	T	0.112	0.31546	.	.	0.451504584351	0.44773	0.48356225979701	0.48276	0.391427431457	0.40341	0.33512198925	0.15706	T	0.058454	0.30846	T	-0.589559	0.00169	T	-0.611675	0.11849	T	0.00592956864552455	0.00065	T	0.822518	0.52285	T	0.039097063	0.05334	0.044123553	0.05645	0.033754837	0.03656	0.044123553	0.05644	-3.376	0.15490	T	.	.	0.075	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	2.629902	0.34197	19.56	0.97738475374301148	0.35665	0.04340	0.09903	N	AEFBI	0.071059	0.14131	N	-0.395247724888842	0.25637	1.393218	-0.279890348411636	0.28761	1.606131	0.999284130369065	0.39007	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.499000	0.35279	11.837000	0.97708	0.618000	0.50648	0.036000	0.20778	1.000000	0.68203	0.962000	0.52141	0.1002:0.0:0.8998:0.0	9.590	0.38706	764	0.49969	.;.;Integrin alpha-2;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008065	0.025510	0.006793	0.002924	0.000000	0.000000	0.015244	0.000000	0.08333	954.83	34	chr2	172491072	.	G	A	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.858;SOR=0.555	GT:AD:DP:GQ:PL	0/1:20,35:55:99:965,0,526	5	0	1	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.05	34	chr2	174877875	.	C	T	45.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.727;DP=281;ExcessHet=0;FS=27.357;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=3.9;SOR=4.717	GT:AD:DP:GQ:PL	0/1:61,15:76:55:55,0,1556	5	0	1	0
chr2	176130926	176130926	C	T	exonic	HOXD8	.	nonsynonymous SNV	HOXD8:NM_001199746:exon1:c.C560T:p.P187L,HOXD8:NM_019558:exon1:c.C560T:p.P187L,HOXD8:NM_001199747:exon2:c.C8T:p.P3L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590	0.48524453368	0.0009	0.000998403	0.0008	0	0.0010	0	0.0020	0.0010	0.0011	6.396e-05	0.0008473	131	154602	rs142220242	0.0013	0.0013	0.0014	0.0012	0.0015	0.0013	0.0012	0.0014	0.0014	0.0002	0.0005	0.0011	0	0.0020	0	0.0015	0.0014	2.373e-05	0.0008	0.0008	0.0010	0.0007	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0007	0.0012	0	0.0020	0	0.0012	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000021	0.55875	D	0.000000	1	0.81001	D	2.71	0.79292	M	-3.19	0.93170	D	-7.47	0.97699	D	0.511	0.55713	0.936	0.96187	D	0.885	0.96182	D	10	0.055609345	0.06105	T	0.485245	0.94908	D	0.590	0.83636	.	.	0.942284570467	0.94168	0.836362529422848	0.83596	.	.	0.798071980476	0.81669	T	0.511751	0.82752	D	-0.00664833	0.50734	T	0.212747	0.83806	D	0.571990311145782	0.35310	D	0.979402	0.92878	D	0.76886374	0.81980	0.7512002	0.85294	0.76886374	0.81982	0.7512002	0.85295	-10.875	0.78968	D	.	.	0.865	0.80642	P	.;.;.;.	.;.;.;.	5.804476	0.93629	33	0.99735590173412803	0.83119	0.99299	0.94153	D	AEFDBCIJ	0.913994	0.87675	D	0.616107724416088	0.74191	6.091222	0.568669405707575	0.72707	5.852308	0.999999999819665	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.56214	0.19341	0	.	.	4.63	3.75	0.42236	7.899000	0.85994	7.530000	0.59902	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9207:0.0:0.0793	12.949	0.57787	526	0.73951	Homeobox protein, antennapedia type, conserved site;Homeobox protein, antennapedia type, conserved site;Homeobox protein, antennapedia type, conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	793.83	38	chr2	176130926	.	C	T	793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=261;ExcessHet=0;FS=0.904;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.424;SOR=0.866	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,901	5	0	1	0
chr2	178014328	178014328	C	T	exonic	PDE11A	.	nonsynonymous SNV	PDE11A:NM_016953:exon2:c.G1045A:p.A349T,PDE11A:NM_001077197:exon3:c.G295A:p.A99T	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0112184146368	0.0028	0.000599042	0.0017	0.0005	0.0004	0	0.0002	0.0026	0.0011	0.0012	0.0018305	283	154602	rs77477862	0.0029	0.0030	0.0029	0.0030	0.0035	0.0029	0.0028	0.0034	0.0034	0.0002	0.0006	0.0035	0	0.0002	0.0005	0.0035	0.0020	0.0015	0.0018	0.0018	0.0018	0.0017	0.0029	0.0016	0.0015	0.0026	0.0024	0.0006	0	0.0008	0.0049	0	0.0004	0	0.0029	0.0038	0.0021	0.511	0.08762	T	0.567	0.10429	T	0.002	0.09854	B	0.008	0.13708	B	0.016205	0.28038	N	0.398073	0.997988	0.44386	D	0.09	0.08384	N	-0.3	0.67874	T	-0.46	0.14978	N	0.21	0.24010	-0.9790	0.35231	T	0.139	0.45697	T	10	0.011165619	0.00245	T	0.011218	0.28621	T	0.075	0.21907	.	.	0.655301966297	0.65242	0.3022656408861793	0.30139	0.220961154658	0.24644	0.437279999256	0.30205	T	0.080397	0.36353	T	-0.518921	0.00446	T	-0.51708	0.20591	T	0.00659666251593238	0.00074	T	0.762524	0.38803	T	0.09865876	0.23273	0.099505834	0.23760	0.105015196	0.24828	0.1039807	0.24961	-3.653	0.18627	T	.	.	0.062	0.01252	B	.;.	.;.	2.413645	0.31030	18.62	0.96270287091572204	0.29247	0.94635	0.61812	D	AEFI	0.672565	0.63892	D	-0.237479006874058	0.31607	1.77394	-0.00316175152486224	0.39574	2.348407	0.138568612523989	0.17229	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.61	0.56724	3.342000	0.51877	.	.	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.986000	0.61781	0.0:0.923:0.0:0.077	13.178	0.59057	491	0.76657	GAF domain|GAF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1319.83	34	chr2	178014328	.	C	T	1319.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.013;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.835;SOR=0.695	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	5	0	1	0
chr2	178112843	178112843	C	G	exonic	RBM45	.	nonsynonymous SNV	RBM45:NM_001365578:exon1:c.C297G:p.I99M,RBM45:NM_001365579:exon1:c.C297G:p.I99M,RBM45:NM_152945:exon1:c.C297G:p.I99M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.418342681459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.017	0.60337	D	0.514	0.37393	P	0.262	0.39564	B	0.000014	0.62929	D	0.110395	0.999997	0.58761	D	1.735	0.44892	L	-2.01	0.85468	D	-1.74	0.41239	N	0.509	0.60071	-0.1693	0.78445	T	0.514	0.81797	D	10	0.56852406	0.65187	D	0.418343	0.93741	D	0.607	0.84559	0.588	0.71623	0.793670465417	0.79175	0.3486881836509563	0.34782	1.15342620932	0.79294	0.565043926239	0.47978	T	0.073126	0.34621	T	0.116315	0.66001	D	-0.0706974	0.65576	T	0.957663774490356	0.65069	D	0.89601	0.63722	D	0.14579736	0.33405	0.2661218	0.52453	0.14579736	0.33405	0.2661218	0.52452	-6.552	0.50709	T	.	.	0.371	0.57884	A	.;.	.;.	2.380663	0.30556	18.47	0.99165730184520595	0.54241	0.29734	0.23900	N	AEFDGBHCI	0.244318	0.36544	N	-0.244276019323509	0.31333	1.755817	-0.228196455916849	0.30530	1.719799	0.999999901225285	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.81	1.91	0.24841	0.175000	0.16577	.	.	-0.233000	0.07663	0.847000	0.30396	1.000000	0.68203	0.981000	0.58702	0.1394:0.5919:0.2687:0.0	10.683	0.45024	468	0.78227	RNA recognition motif domain|RNA recognition motif domain|RBM45, RNA recognition motif 1;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	753.83	38	chr2	178112843	.	C	G	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.973;DP=238;ExcessHet=0;FS=16.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-1.917;SOR=3.493	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1259	5	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.08333	713.83	34	chr2	178324247	.	C	T	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=232;ExcessHet=0;FS=1.028;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.471;SOR=0.935	GT:AD:DP:GQ:PL	0/1:30,29:59:99:724,0,671	5	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGA	exonic	PRKRA	.	nonframeshift insertion	PRKRA:NM_001139517:exon1:c.29_30insTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10_S11insPRAGTAEAPPLEREDSGTF	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.321e-05	9.508e-05	6.671e-05	7.977e-05	0.0045	6.182e-05	5.743e-05	0.0032	0.0027	0	0	0	0	0.0007	0.0045	2.698e-05	4.968e-05	0.0001	0.0004	0.0010	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0011	0.0005	0.0003	0.0004	0.0002	0.0034	0.0005	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	755.79	35	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGA	755.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=320;ExcessHet=0;FS=1.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-3.022;SOR=0.468	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1305	5	0	1	0
chr2	178527550	178527550	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1491	30	0	0	30	0.00996016	.	.	YES	56884	Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|TTN-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.398	.	0.0011	0.00219649	0.0022	0.0002	0.0003	0	0.0002	0.0016	0.0044	0.0093	0.0019987	309	154602	rs72629793	0.0013	0.0013	0.0010	0.0016	0.0099	0.0013	0.0012	0.0094	0.0092	0.0002	0.0002	0.0090	0.0002	5.618e-05	0.0064	0.0006	0.0022	0.0099	0.0010	0.0010	0.0008	0.0011	0.0112	0.0009	0.0008	0.0088	0.0080	7.213e-05	0	0	0.0089	0.0004	0	0	0.0008	0.0014	0.0112	0.009	0.58626	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.820675	0.35804	D	0.55	0.14455	N	-0.1	0.64264	T	-2.73	0.58085	D	0.729	0.76946	-0.8893	0.48995	T	0.141	0.46072	T	9	0.00726828	0.00165	T	.	.	.	0.398	0.71242	.	.	0.615614480955	0.61251	.	.	0.0968877573739	0.10942	0.604412436485	0.53527	T	.	.	.	-0.144099	0.29240	T	0.0266331	0.72058	D	0.0309438198874612	0.02137	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.436	0.61490	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.207637	0.28159	17.71	0.83464716704103281	0.14740	0.94805	0.62390	D	AEFDBCI	0.834171	0.75226	D	-0.273761059275001	0.30164	1.679445	-0.0634768986456481	0.36913	2.154379	0.999999989243797	0.74766	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	4.62	0.56946	5.583000	0.67179	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9261:0.0:0.0739:0.0	10.371	0.43238	348	0.85549	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.007576	0.08333	1736.83	33	chr2	178527550	.	A	G	1736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.628;DP=319;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.078;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	5	0	1	0
chr2	178531191	178531191	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G78229A:p.E26077K,TTN:NM_133432:exon187:c.G78604A:p.E26202K,TTN:NM_133437:exon187:c.G78805A:p.E26269K,TTN:NM_133378:exon307:c.G97720A:p.E32574K,TTN:NM_001256850:exon308:c.G100501A:p.E33501K,TTN:NM_001267550:exon358:c.G105424A:p.E35142K	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	1521	1	0	0	1	0.000328623	.	.	YES	655179	not_provided|not_specified|Cardiomyopathy	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	0.0213646548041	.	.	4.968e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs765274398	2.189e-05	2.189e-05	2.45e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	1.627e-05	1.382e-05	2.987e-05	0	0	0	0	0.0002	2.338e-05	1.656e-05	3.478e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	0.0001	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.015	0.52492	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999999	0.81001	D	2.035	0.55589	M	0.81	0.48460	T	-2.93	0.61284	D	0.523	0.78641	-0.4632	0.69961	T	0.293	0.66470	T	9	0.4202005	0.56812	T	0.021365	0.44128	T	0.405	0.71791	0.7	0.83684	0.304435445954	0.30045	.	.	0.489131336793	0.47684	0.605935931206	0.53742	T	.	.	.	-0.154445	0.27618	T	-0.278098	0.46998	T	0.364415984976255	0.27581	T	0.969903	0.89155	D	.	.	.	.	.	.	.	.	-6.544	0.50625	T	.	.	0.3	0.52985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.672559	0.34844	19.74	0.96266567924817903	0.29234	0.96561	0.69756	D	AEFGBHCI	0.855792	0.77294	D	0.666093363582971	0.77414	6.67007	0.622979332758715	0.76612	6.52327	1.0	0.98316	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.1	5.1	0.68917	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	18.501	0.90831	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4778.06	93	chr2	178531191	.	C	T	4778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=567;ExcessHet=0.4139;FS=4.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.91;SOR=0.923	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2207,0,1693	4	0	2	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q,TTN:NM_133432:exon187:c.G76327C:p.E25443Q,TTN:NM_133437:exon187:c.G76528C:p.E25510Q,TTN:NM_133378:exon307:c.G95443C:p.E31815Q,TTN:NM_001256850:exon308:c.G98224C:p.E32742Q,TTN:NM_001267550:exon358:c.G103147C:p.E34383Q	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	1509	13	0	0	13	0.00428901	.	.	.	136136	Cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1715.83	93	chr2	178533468	.	C	G	1715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.798;DP=495;ExcessHet=0;FS=0.668;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.323;SOR=0.757	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	5	0	1	0
chr2	178537539	178537539	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72473A:p.R24158H,TTN:NM_133432:exon184:c.G72848A:p.R24283H,TTN:NM_133437:exon184:c.G73049A:p.R24350H,TTN:NM_133378:exon304:c.G91964A:p.R30655H,TTN:NM_001256850:exon305:c.G94745A:p.R31582H,TTN:NM_001267550:exon355:c.G99668A:p.R33223H	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	.	.	.	.	.	.	.	.	.	.	56782	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.465	0.0496650999619	8.4e-05	.	7.49e-05	0.0002	0	0.0008	0	0	0	0	5.82e-05	9	154602	rs369081242	4.037e-05	4.036e-05	5.038e-05	3.026e-05	0.0003	3.179e-05	2.911e-05	0.0002	0.0001	0.0003	6.711e-05	0	5.041e-05	0	0	2.878e-05	0.0002	2.319e-05	7.884e-05	7.875e-05	7.712e-05	8.063e-05	0.0003	4.496e-05	3.512e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.029	0.45756	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	-0.26	0.67187	T	-3.62	0.70920	D	0.437	0.68429	-0.1778	0.78236	T	0.443	0.78008	T	9	0.20046318	0.36094	T	0.049665	0.63910	D	0.465	0.76089	.	.	0.445811967706	0.44203	.	.	0.516134083605	0.49506	0.606586694717	0.53834	T	.	.	.	-0.222043	0.17715	T	-0.200349	0.54614	T	0.222239719542583	0.21575	T	0.967203	0.88094	D	.	.	.	.	.	.	.	.	-4.914	0.35892	T	.	.	0.291	0.52285	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.592552	0.50700	23.0	0.94683432080247365	0.25320	0.98525	0.83712	D	AEFBI	0.926771	0.90840	D	0.80803291286198	0.86608	8.939585	0.828646489481749	0.91708	11.02671	1.0	0.98316	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.664235	0.64389	0	.	.	5.89	5.89	0.94758	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.256	0.98423	384	0.83545	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1298.83	37	chr2	178537539	.	C	T	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.846;DP=264;ExcessHet=0;FS=1.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.06;SOR=0.826	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr2	178554618	178554618	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon160:c.A61534G:p.S20512G,TTN:NM_133432:exon161:c.A61909G:p.S20637G,TTN:NM_133437:exon161:c.A62110G:p.S20704G,TTN:NM_133378:exon281:c.A81025G:p.S27009G,TTN:NM_001256850:exon282:c.A83806G:p.S27936G,TTN:NM_001267550:exon332:c.A88729G:p.S29577G	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	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0312185513654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	0.68	0.16426	N	0.57	0.54347	T	-2.79	0.64019	D	0.46	0.70966	-0.6154	0.64180	T	0.201	0.55794	T	9	0.29454678	0.47026	T	0.031219	0.53353	D	0.300	0.62068	0.398	0.42590	0.225902525712	0.22197	.	.	0.443632335628	0.44285	0.633472323418	0.57638	T	.	.	.	-0.0411621	0.45775	T	-0.296903	0.45050	T	0.428428444799208	0.30003	T	0.968203	0.91515	D	.	.	.	.	.	.	.	.	-8.001	0.61077	D	.	.	0.370	0.57847	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.790896	0.36690	20.3	0.93793767433405484	0.23759	0.98512	0.83569	D	AEFBI	0.950903	0.96497	D	0.608607981096364	0.73717	6.012188	0.67089810020643	0.80176	7.240855	0.999999995581605	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	8.017000	0.88732	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:0.0:1.0	16.182	0.81730	494	0.76445	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2027.83	137	chr2	178554618	.	T	C	2027.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=328;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.446;SOR=0.607	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr2	178661797	178661797	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon180:c.C37247T:p.S12416L	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	10	1507	4	1	0	6	0.00198675	.	.	.	189639	Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00247541387225	0.0016	.	0.0013	0.0015	0.0005	0.0006	0.0011	0.0017	0.0034	0.0003	0.0001035	16	154602	rs370765948	0.0014	0.0020	0.0013	0.0015	0.0015	0.0013	0.0013	0.0015	0.0014	0.0011	0.0006	0.0008	0.0005	0.0021	0.0002	0.0015	0.0013	0.0004	0.0019	0.0021	0.0021	0.0018	0.0026	0.0018	0.0017	0.0023	0.0021	0.0013	0	0.0018	0.0003	0.0010	0.0028	0	0.0026	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	.	.	.	0.047	0.01911	-1.0141	0.25625	T	0.037	0.16073	T	7	0.011146307	0.00245	T	0.002475	0.04896	T	.	.	.	.	0.152612264143	0.14878	.	.	0.0743692427057	0.08337	.	.	.	.	.	.	-0.308906	0.07845	T	-0.681499	0.06893	T	0.00264863204210997	0.00028	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.184421	0.00547	0.013	0.43198612314165835	0.03236	0.00293	0.01568	N	AEFI	0.035570	0.04600	N	-1.60519401715121	0.01239	0.05388386	-1.71156501230598	0.01087	0.04882428	0.0827794792527427	0.15909	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.46	-5.51	0.02366	-2.409000	0.01119	.	.	-1.499000	0.01032	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4586:0.0:0.227:0.3144	3.748	0.08080	432	0.80690	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	333.83	33	chr2	178661797	.	G	A	333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=212;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.083;MQ=34.89;MQRankSum=-0.943;QD=8.35;ReadPosRankSum=0.589;SOR=0.399	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	5	0	1	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V,TTN:NM_001256850:exon91:c.A25912G:p.I8638V,TTN:NM_001267550:exon93:c.A26863G:p.I8955V	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	1512	10	0	0	10	0.00329598	.	.	.	136110	Cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	2012.83	33	chr2	178713271	.	T	C	2012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=401;ExcessHet=0;FS=3.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.19;SOR=0.453	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	5	0	1	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	55786	Brugada_syndrome|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.08333	1254.83	34	chr2	178731827	.	T	C	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=311;ExcessHet=0;FS=6.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.067;SOR=0.969	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr2	178734746	178734746	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L	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	1485	34	3	0	40	0.013289	.	.	.	55764	Supraventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tip-toe_gait|TTN-related_myopathy|Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0100175,MedGen:CN294812|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	.	0.0028	0.00339457	0.0035	0.0003	0.0006	0	0.0014	0.0039	0.0045	0.0086	0.0034864	539	154602	rs72648929	0.0033	0.0033	0.0031	0.0034	0.0099	0.0032	0.0032	0.0079	0.0077	0.0005	0.0007	0.0097	0.0001	0.0013	0.0099	0.0031	0.0032	0.0084	0.0024	0.0023	0.0022	0.0026	0.0089	0.0022	0.0021	0.0068	0.0061	0.0004	0	0.0006	0.0095	0.0004	0.0019	0	0.0034	0.0024	0.0089	0.586	0.05881	T	.	.	.	0.708	0.42036	P	0.387	0.44046	B	.	.	.	.	0.878587	0.81001	D	.	.	.	-0.26	0.67187	T	-1.27	0.31981	N	0.152	0.18920	-0.5974	0.64923	T	0.234	0.60112	T	9	0.0074189305	0.00169	T	.	.	.	0.236	0.53931	.	.	0.366085729538	0.36220	.	.	0.193963078417	0.21732	0.489897310734	0.37424	T	.	.	.	-0.406531	0.02097	T	-0.351743	0.39005	T	0.0429511013410394	0.04229	T	0.818618	0.50455	T	.	.	.	.	.	.	.	.	-4.406	0.29921	T	.	.	0.395	0.59302	A	.;.;.;.	.;.;.;.	2.461362	0.31708	18.82	0.45163212625536364	0.03525	0.98803	0.87055	D	AEFBI	0.817956	0.73932	D	0.12769802415775	0.47759	2.997087	0.163325034344203	0.47853	3.009335	0.999999999999971	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	6.166000	0.71739	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.332000	0.25247	0.0:1.0:0.0:0.0	19.757	0.96293	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	9943.83	33	chr2	178734746	.	C	G	9943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.14;DP=914;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.067;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	5	0	1	0
chr2	178739988	178739988	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.C12156G:p.F4052L,TTN:NM_001256850:exon46:c.C12294G:p.F4098L,TTN:NM_133432:exon46:c.C12531G:p.F4177L,TTN:NM_133437:exon46:c.C12732G:p.F4244L,TTN:NM_001267550:exon48:c.C13245G:p.F4415L	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	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0145561003063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.06585	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.61	0.56114	T	-2.18	0.49187	N	0.385	0.42639	-1.0367	0.18326	T	0.081	0.31854	T	9	0.12116364	0.22962	T	0.014556	0.34757	T	0.158	0.41098	0.357	0.35897	0.270447802918	0.26645	.	.	0.0979166354652	0.11043	0.582357227802	0.50417	T	.	.	.	-0.138725	0.30095	T	-0.437046	0.29140	T	0.136046037077904	0.15929	T	0.694731	0.39255	T	.	.	.	.	.	.	.	.	-2.006	0.03203	T	.	.	0.861	0.80376	P	.;.;.;.;.;.	.;.;.;.;.;.	1.877291	0.23844	16.17	0.94703843383265762	0.25358	0.82640	0.41840	D	AEFBI	0.713025	0.66596	D	-0.337109467510558	0.27749	1.524953	-0.164992495268799	0.32835	1.872077	0.933732138168494	0.27142	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.76	0.42368	0.225000	0.17538	.	.	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.958000	0.51230	0.3095:0.0:0.4967:0.1938	2.961	0.05532	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1240.83	33	chr2	178739988	.	G	C	1240.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=283;ExcessHet=0;FS=6.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.931;SOR=1.391	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,100,1565	5	0	1	0
chr2	179970716	179970716	C	G	exonic	CWC22	.	nonsynonymous SNV	CWC22:NM_001376032:exon9:c.G958C:p.E320Q,CWC22:NM_001376029:exon10:c.G1081C:p.E361Q,CWC22:NM_001376030:exon10:c.G1081C:p.E361Q,CWC22:NM_001376033:exon10:c.G1081C:p.E361Q,CWC22:NM_020943:exon10:c.G1081C:p.E361Q	.	438	1070	13	1	0	15	0.00696056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0239538737051	0.0008	0.000798722	0.0011	0	0.0006	0	0	0.0006	0.0022	0.0049	0.0009573	148	154602	rs143785942	0.0008	0.0008	0.0006	0.0010	0.0062	0.0008	0.0007	0.0058	0.0056	0	0.0009	0.0036	0	0	0.0033	0.0004	0.0010	0.0062	0.0008	0.0008	0.0008	0.0009	0.0054	0.0007	0.0007	0.0038	0.0032	4.813e-05	0	0.0026	0.0017	0	0	0	0.0007	0.0024	0.0054	0.02	0.49613	D	0.011	0.64786	D	0.999	0.77913	D	0.905	0.64260	P	0.000000	0.84330	D	0.047002	1	0.81001	D	3.62	0.93917	H	1.78	0.30401	T	-2.38	0.52451	N	0.447	0.48504	-0.5570	0.66518	T	0.242	0.61071	T	10	0.011906892	0.00258	T	0.023954	0.46940	T	0.250	0.55888	.	.	0.542053899377	0.53859	0.3351762236590063	0.33430	0.314344865428	0.33714	0.568953752518	0.48529	T	0.363067	0.72887	T	-0.350843	0.04674	T	-0.27551	0.47261	T	0.383134782314301	0.28303	T	0.985301	0.94937	D	0.4519958	0.64167	0.21143495	0.45572	0.4519958	0.64168	0.21143495	0.45571	-10.033	0.74109	D	.	.	0.381	0.58458	A	.;.	.;.	4.881838	0.80076	27.2	0.99805237606878339	0.88995	0.98938	0.88891	D	AEFBI	0.883241	0.81198	D	0.953746288980798	0.94133	12.52623	0.927658320162605	0.96668	14.98818	0.999999998782823	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.381	0.94526	215	0.91651	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	952.83	65	chr2	179970716	.	C	G	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.847;DP=244;ExcessHet=0;FS=0.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.047;SOR=0.479	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1212	5	0	1	0
chr2	182838511	182838511	C	T	exonic	FRZB	.	nonsynonymous SNV	FRZB:NM_001463:exon4:c.G695A:p.R232Q	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0305214079491	0.0035	0.000599042	0.0029	0.0009	0.0013	0	0.0041	0.0042	0	0.0012	0.0028784	445	154602	rs112797950	0.0038	0.0038	0.0039	0.0036	0.0044	0.0037	0.0036	0.0043	0.0043	0.0005	0.0014	7.668e-05	5.04e-05	0.0031	0.0007	0.0044	0.0038	0.0013	0.0026	0.0026	0.0025	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0011	0	0.0036	0	0	0.0041	0	0.0036	0.0024	0.0010	0.051	0.39334	T	0.255	0.23365	T	0.251	0.31212	B	0.064	0.27215	B	0.000003	0.62929	D	0.104089	0.757069	0.33995	D	1.355	0.33814	L	1.96	0.22270	T	-0.54	0.16598	N	0.777	0.77413	-1.0469	0.15274	T	0.026	0.10998	T	10	0.03897211	0.02353	T	0.030521	0.52811	D	0.143	0.38195	.	.	0.551426384634	0.54799	0.3677574032874709	0.36689	0.864415573168	0.69143	0.271767169237	0.06373	T	0.21636	0.57849	T	-0.333663	0.05839	T	-0.249449	0.49871	T	0.00927267611988974	0.00118	T	0.90061	0.65471	D	0.070112444	0.15415	0.07648145	0.16945	0.070112444	0.15415	0.07648145	0.16944	-5.195	0.38891	T	.	.	0.101	0.17742	B	.	.	4.401843	0.68021	25.2	0.99703923718043208	0.80867	0.69529	0.34224	D	AEFDBI	0.221322	0.34597	N	-0.148305550714185	0.35306	2.026313	-0.0237421297206478	0.38644	2.279797	0.00542371452313988	0.10934	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.39	3.59	0.40253	1.296000	0.32994	0.395000	0.17934	0.599000	0.40250	0.998000	0.41325	0.002000	0.18203	0.992000	0.67800	0.0:0.6853:0.0:0.3147	7.598	0.27226	592	0.68746	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type|Secreted frizzled-related protein 3, NTR 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	552.83	33	chr2	182838511	.	C	T	552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.335;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.197;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1103	5	0	1	0
chr2	185794172	185794172	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G7036C:p.A2346P	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0141521100308	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	3.23e-05	5	154602	rs201278788	0.0001	0.0001	0.0001	0.0001	0.0040	9.94e-05	9.392e-05	0.0028	0.0023	0.0004	0.0002	0.0006	0	0	0.0040	7.607e-05	0.0003	7.592e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.725e-05	0.0001	0.0001	9.643e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0002	0.016	0.51853	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.005	0.54552	M	0.63	0.53088	T	-3.45	0.67589	D	0.536	0.56403	-1.0186	0.24171	T	0.058	0.24502	T	7	0.1282425	0.24393	T	0.014152	0.34071	T	0.255	0.56562	.	.	0.224531998449	0.22054	0.42104630777496355	0.42020	.	.	0.306665986776	0.11403	T	0.080346	0.36341	T	-0.182507	0.23364	T	-0.230635	0.51711	T	0.0733910318300923	0.09119	T	0.713029	0.32487	T	0.42655063	0.62525	0.47163928	0.69367	0.42655063	0.62526	0.47163928	0.69367	-3.732	0.19791	T	.	.	0.204	0.42990	B	.	.	0.370757	0.07432	4.062	0.97894111751001822	0.36690	0.10438	0.15945	N	AEFCIJ	.	.	.	-0.662046990807816	0.17111	0.8776847	-0.745581489346351	0.15830	0.8345486	0.0704529277725923	0.15528	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	-0.839	0.10214	-0.525000	0.06302	0.252000	0.16440	0.676000	0.76740	0.001000	0.13787	0.001000	0.17328	0.203000	0.21983	0.3769:0.0:0.3125:0.3107	3.073	0.05862	771	0.49057	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002674	0.000000	0.008475	0.017442	0.000000	0.000000	0.000000	0.000000	0.08333	988.83	55	chr2	185794172	.	G	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.893;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=1.59;SOR=0.61	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chr2	185802105	185802105	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G12799A:p.V4267I	.	.	.	.	.	.	.	.	.	.	.	4137678	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0127815237244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.05755	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.95	0.43279	T	-0.58	0.17417	N	0.04	0.01347	-1.0060	0.28156	T	0.038	0.16246	T	7	0.03970188	0.02481	T	0.012782	0.31649	T	0.028	0.06331	.	.	0.0551355673512	0.04727	0.021104303109502336	0.02063	.	.	0.257732331753	0.04624	T	0.002051	0.01461	T	-0.37584	0.03309	T	-0.777645	0.02526	T	0.0219465327461003	0.00902	T	0.351165	0.07832	T	0.026281495	0.01667	0.033339437	0.02213	0.026281495	0.01666	0.033339437	0.02213	-2.998	0.10159	T	.	.	0.084	0.09820	B	.	.	-0.151538	0.03345	0.591	0.63219652101690782	0.07166	0.01341	0.04611	N	AEFI	.	.	.	-1.13230773207518	0.06076	0.2787387	-1.21246573224941	0.05709	0.2727758	1.95757293195217E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	-1.12	0.09306	0.128000	0.15636	0.215000	0.16006	-0.227000	0.07798	0.006000	0.17386	0.000000	0.08366	0.346000	0.25568	0.6057:0.1777:0.2166:0.0	4.994	0.13573	731	0.54177	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3585.06	77	chr2	185802105	.	G	A	3585.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.588;DP=561;ExcessHet=0.4139;FS=7.737;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.47;SOR=0.673	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1829,0,1707	4	0	2	0
chr2	185806959	185806959	A	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A17653C:p.K5885Q	.	.	.	.	.	.	.	.	.	.	.	3207706	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00259585	0.0019	0.0001	0	0	0	1.513e-05	0	0.0136	0.0015782	244	154602	rs373057979	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	0	2.25e-05	0	0	0	0.0016	4.5e-06	0.0010	0.0109	0.0004	0.0004	0.0002	0.0007	0.0122	0.0003	0.0003	0.0097	0.0088	4.816e-05	0	0.0003	0	0	0	0	0	0.0005	0.0122	0.533	0.06957	T	0.172	0.30241	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	0.91	0.44856	T	-1.63	0.39119	N	0.082	0.09631	-1.0202	0.23649	T	0.067	0.27606	T	7	0.0046013594	0.00096	T	.	.	.	0.018	0.03083	.	.	0.185906805712	0.18197	0.16233871054588297	0.16153	.	.	0.320940494537	0.13565	T	0.007151	0.06566	T	-0.679618	0.00048	T	-0.738613	0.03950	T	0.0154835717580351	0.00349	T	0.519848	0.17429	T	0.059863213	0.12215	0.03621074	0.03021	0.03812319	0.05018	0.03138014	0.01717	-1.607	0.01998	T	.	.	0.125	0.26294	B	.;.	.;.	0.175664	0.05641	2.090	0.94352817861416782	0.24703	0.01657	0.05315	N	AEFHCI	.	.	.	-0.705338503128376	0.15871	0.8037255	-0.795976166515157	0.14594	0.7633178	3.02477999050248E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	2.13	0.26445	-0.168000	0.09914	0.745000	0.21191	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.4749:0.5251:0.0:0.0	8.918	0.34752	751	0.51694	.;.	.	.	.	.	.	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	0.002591	0.000000	0.000000	0.003497	0.000000	0.008621	0.000000	0.003788	0.08333	1703.83	96	chr2	185806959	.	A	C	1703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.452;DP=462;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.617;SOR=0.634	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	5	0	1	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	51.72	.	chr2	186504214	.	G	C	51.72	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.178;DP=246;ExcessHet=0;FS=7.187;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.62;SOR=2.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,9:38:61:.:.:61,0,659:.	4	0	1	1
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	412.91	.	chr2	186504215	.	G	A	412.91	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,7:38:3:.:.:41,0,658:.	1	0	3	2
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	412.91	.	chr2	186504215	.	G	C	412.91	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,7:38:3:.:.:41,3,506:.	3	0	1	2
chr2	186751157	186751157	C	T	exonic	FAM171B	.	nonsynonymous SNV	FAM171B:NM_177454:exon5:c.C748T:p.P250S	.	.	.	.	.	.	.	.	.	.	.	707895	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.462	.	0.0107	0.0109824	0.0031	0.0347	0.0006	0	0	7.542e-05	0.0011	0.0001	0.0029624	458	154602	rs79964543	0.0009	0.0009	0.0010	0.0007	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0013	0	0	0	0.0010	3.344e-05	0.0024	9.406e-05	0.0096	0.0096	0.0095	0.0097	0.0333	0.0092	0.0090	0.0318	0.0312	0.0333	0	0.0038	0	0	0	0	0.0001	0.0061	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.053942	1	0.81001	D	2.44	0.70756	M	-0.06	0.63568	T	-5.21	0.83763	D	0.947	0.95491	-0.5356	0.67330	T	0.120	0.41993	T	10	0.010239631	0.00229	T	.	.	.	0.462	0.75889	.	.	0.778858723293	0.77681	0.8581925109644288	0.85782	0.946287862059	0.72418	0.51248216629	0.40569	T	0.269783	0.64201	T	-0.320741	0.06838	T	-0.208432	0.53846	T	0.0201386340353833	0.00715	T	0.882812	0.60417	D	0.56767476	0.70932	0.5403919	0.73437	0.56767476	0.70934	0.5403919	0.73438	-7.109	0.54825	T	.	.	0.302	0.53127	B	.	.	4.315408	0.66008	24.9	0.99901013334666278	0.97275	0.91614	0.53897	D	AEFDBHCI	0.498757	0.53272	N	0.750904059557319	0.82965	7.894621	0.729885940602594	0.84647	8.350814	0.999911673236638	0.45857	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	5.816000	0.68900	7.467000	0.59112	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.636	0.88023	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001514	0.010309	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	829.83	33	chr2	186751157	.	C	T	829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.789;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.036;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	5	0	1	0
chr2	186828124	186828124	G	A	exonic	ZSWIM2	.	nonsynonymous SNV	ZSWIM2:NM_182521:exon9:c.C1762T:p.L588F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00560569632193	.	0.000199681	3.315e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs578031998	7.527e-06	7.524e-06	0	1.513e-05	0.0001	4.04e-06	2.95e-06	7.125e-05	5.483e-05	0	0	0	0	0	0	0	0	0.0001	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.113	0.28772	T	0.426	0.13872	T	0.003	0.11197	B	0.006	0.12133	B	0.091237	0.20336	N	0.420561	1	0.08975	N	0.75	0.19020	N	1.85	0.24472	T	-0.89	0.24026	N	0.066	0.03841	-1.0307	0.20227	T	0.031	0.13504	T	10	0.020746171	0.00483	T	0.005606	0.14469	T	0.014	0.01968	0.234	0.16305	0.0138822411134	0.00435	0.054060178814679144	0.05348	0.0103229151761	0.00949	0.277863770723	0.07196	T	0.005711	0.05159	T	-0.516643	0.00460	T	-0.68775	0.06520	T	0.0148464184390078	0.00313	T	0.443756	0.12347	T	0.052968856	0.09956	0.052759018	0.08753	0.052968856	0.09955	0.052759018	0.08753	-4.485	0.30692	T	.	.	0.071	0.04041	B	.	.	0.736550	0.11056	7.711	0.93533408082173564	0.23356	0.06271	0.12263	N	AEFBI	0.057337	0.10672	N	-1.03727622093657	0.07839	0.3655531	-0.972044367116116	0.10415	0.5244652	0.935749106182943	0.27226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.45	3.65	0.40985	0.900000	0.28062	0.861000	0.22228	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.699000	0.34110	0.0868:0.0:0.746:0.1672	7.214	0.25125	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1777.83	41	chr2	186828124	.	G	A	1777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.218;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.192;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1114	5	0	1	0
chr2	188584355	188584355	C	T	exonic	GULP1	.	nonsynonymous SNV	GULP1:NM_001252669:exon7:c.C391T:p.R131C,GULP1:NM_001375947:exon8:c.C562T:p.R188C,GULP1:NM_001375944:exon9:c.C562T:p.R188C,GULP1:NM_001375945:exon9:c.C562T:p.R188C,GULP1:NM_001375946:exon9:c.C562T:p.R188C,GULP1:NM_001375950:exon9:c.C562T:p.R188C,GULP1:NM_001375952:exon9:c.C853T:p.R285C,GULP1:NM_001252668:exon10:c.C700T:p.R234C,GULP1:NM_001375925:exon10:c.C700T:p.R234C,GULP1:NM_001375928:exon10:c.C700T:p.R234C,GULP1:NM_001375930:exon10:c.C700T:p.R234C,GULP1:NM_001375931:exon10:c.C700T:p.R234C,GULP1:NM_001375935:exon10:c.C925T:p.R309C,GULP1:NM_001375937:exon10:c.C925T:p.R309C,GULP1:NM_016315:exon10:c.C700T:p.R234C,GULP1:NM_001375926:exon11:c.C700T:p.R234C,GULP1:NM_001375927:exon11:c.C700T:p.R234C,GULP1:NM_001375929:exon11:c.C700T:p.R234C,GULP1:NM_001375932:exon11:c.C925T:p.R309C,GULP1:NM_001375933:exon11:c.C925T:p.R309C,GULP1:NM_001375936:exon11:c.C925T:p.R309C,GULP1:NM_001375938:exon11:c.C925T:p.R309C,GULP1:NM_001375948:exon11:c.C925T:p.R309C,GULP1:NM_001375953:exon11:c.C811T:p.R271C,GULP1:NM_001375934:exon12:c.C925T:p.R309C,GULP1:NM_001375939:exon12:c.C925T:p.R309C,GULP1:NM_001375940:exon12:c.C949T:p.R317C,GULP1:NM_001375943:exon12:c.C949T:p.R317C,GULP1:NM_001375949:exon12:c.C925T:p.R309C,GULP1:NM_001375941:exon13:c.C949T:p.R317C,GULP1:NM_001375942:exon13:c.C949T:p.R317C,GULP1:NM_001375951:exon13:c.C865T:p.R289C	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.025613896014	.	.	2.471e-05	0	0	0.0001	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs777577897	2.959e-05	3.01e-05	1.782e-05	4.146e-05	0.0003	2.229e-05	1.981e-05	6.117e-05	3.28e-05	3e-05	0	0.0003	5.051e-05	0	0.0003	1.72e-05	6.659e-05	9.301e-05	6.569e-05	6.562e-05	6.426e-05	6.719e-05	0.0006	3.516e-05	2.616e-05	0.0002	8.398e-05	4.814e-05	0	0	0.0003	0.0006	0	0	5.882e-05	0	0	0.065	0.36310	T	0.091	0.40110	T	0.001	0.07471	B	0.0	0.01387	B	0.000853	0.41440	D	0.276992	0.999953	0.52396	D	1.155	0.29575	L	0.87	0.46412	T	-0.01	0.09135	N	0.467	0.58031	-0.9793	0.35162	T	0.123	0.42483	T	10	0.14493576	0.27499	T	0.025614	0.48579	D	0.058	0.16647	.	.	0.165150595986	0.16160	0.24651342883802793	0.24565	0.247225316815	0.27269	0.257394641638	0.04586	T	0.051865	0.29000	T	-0.217467	0.18340	T	-0.381025	0.35601	T	0.349899023771286	0.27015	T	0.931007	0.74830	D	0.09449622	0.22219	0.060985804	0.11703	0.09449622	0.22218	0.060985804	0.11702	-6.806	0.52603	T	.	.	0.074	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	3.019178	0.40400	21.2	0.99860002982261409	0.93820	0.89724	0.50374	D	AEFBI	0.450934	0.50512	N	-0.145677997936712	0.35419	2.034155	-0.0567450820609263	0.37200	2.174881	0.117061160132798	0.16793	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.73	0.59485	3.924000	0.56191	4.790000	0.44894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:0.8646:0.1354:0.0	15.855	0.78748	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2359.83	36	chr2	188584355	.	C	T	2359.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.284;DP=372;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.4;SOR=0.616	GT:AD:DP:GQ:PL	0/1:79,100:179:99:2370,0,1679	5	0	1	0
chr2	189004366	189004366	T	G	splicing	COL3A1	NM_000090:exon40:c.2931+2T>G	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	.	.	.	.	.	.	.	0.9999	0.94	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.071314	0.84579	28.4	0.99403163697474095	0.62887	0.99641	0.98258	D	AEFBI	.	.	.	1.01859050287191	0.96289	14.51728	0.829447203960995	0.91760	11.05372	0.999942028997608	0.47345	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.958456	0.64601	4.98	4.98	0.65679	3.855000	0.55666	5.964000	0.51876	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.0:0.0:1.0	14.846	0.69892	839	0.37672	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	31.95	31	chr2	189004366	.	T	G	31.95	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.1;DP=133;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.1;SOR=0.368	GT:AD:DP:GQ:PL	./.:29,0:29:0:0,0,325	2	0	1	3
chr2	189711097	189711097	C	G	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon10:c.C2168G:p.S723C,ANKAR:NM_144708:exon10:c.C2168G:p.S723C	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00427857713609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.228	0.25286	T	.	.	.	.	.	.	0.009341	0.30401	N	0.277909	0.717415	0.30519	N	0.14	0.08730	N	1.58	0.29085	T	1.17	0.01121	N	0.493	0.52651	-1.0610	0.11508	T	0.045	0.19194	T	8	0.28609908	0.46192	T	0.004279	0.10373	T	0.089	0.25827	0.612	0.74535	0.62768934338	0.62464	0.37149813954701505	0.37063	0.105688532859	0.11951	0.686602473259	0.65217	T	0.003702	0.03111	T	-0.150921	0.28168	T	-0.454564	0.27194	T	0.304355868417885	0.25183	T	0.644935	0.25655	T	0.095952995	0.22591	0.06849217	0.14310	0.095952995	0.22591	0.06849217	0.14310	-0.393	0.00522	T	.	.	0.102	0.17827	B	.;.	.;.	2.735036	0.35810	20.0	0.9849930069566083	0.42192	0.58000	0.30524	D	AEFBI	0.135593	0.25598	N	0.105776126529715	0.46731	2.90911	0.232739988099018	0.51673	3.347822	0.0629999298456333	0.15281	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	2.148000	0.41859	4.759000	0.44704	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.995000	0.73285	0.0:0.8179:0.1821:0.0	11.435	0.49303	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	966.83	89	chr2	189711097	.	C	G	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.104;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=1.38;SOR=0.699	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	189728744	189728744	T	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon15:c.T3116C:p.V1039A,ANKAR:NM_144708:exon15:c.T3116C:p.V1039A	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0118368789669	0.0023	0.00219649	0.0037	0.0007	0.0005	0	0.0005	0.0047	0.0066	0.0067	0.0035058	542	154602	rs150498189	0.0034	0.0034	0.0035	0.0034	0.0062	0.0034	0.0033	0.0058	0.0056	0.0007	0.0011	3.827e-05	0	0.0011	0.0024	0.0038	0.0027	0.0062	0.0021	0.0021	0.0020	0.0021	0.0054	0.0019	0.0018	0.0038	0.0032	0.0005	0	0.0016	0.0003	0	0.0006	0	0.0034	0.0009	0.0054	0.003	0.68238	D	0.005	0.72224	D	.	.	.	.	.	.	0.100521	0.19883	N	0.368171	0.937424	0.81001	D	2.645	0.77386	M	0.55	0.54728	T	-2.89	0.60665	D	0.571	0.63035	-0.5479	0.66866	T	0.246	0.61530	T	10	0.01316914	0.00280	T	0.011837	0.29861	T	0.200	0.48430	.	.	0.826551919957	0.82491	0.6073061865298186	0.60662	0.137857802033	0.15542	0.429352641106	0.29120	T	0.085344	0.37480	T	-0.298527	0.08799	T	-0.198839	0.54757	T	0.065792203298937	0.08048	T	0.653735	0.26383	T	0.28491238	0.51515	0.41612348	0.65706	0.28491238	0.51515	0.41612348	0.65706	-8.326	0.63271	D	.	.	0.671	0.71783	P	.;.	.;.	3.736898	0.53487	23.4	0.99518322806849402	0.69100	0.91068	0.52797	D	AEFI	0.588125	0.58551	D	0.454403147890713	0.64454	4.700239	0.424252485081159	0.63080	4.534804	0.863128076154468	0.25265	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.07	5.07	0.68106	5.520000	0.66794	7.702000	0.66341	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:0.0:1.0	13.934	0.63522	785	0.46916	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1004.83	94	chr2	189728744	.	T	C	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.245;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.87;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1294	5	0	1	0
chr2	190437203	190437203	C	T	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375987:exon2:c.C1174T:p.R392C,MFSD6:NM_001375989:exon2:c.C1174T:p.R392C,MFSD6:NM_001375990:exon2:c.C1174T:p.R392C,MFSD6:NM_001375986:exon3:c.C1174T:p.R392C,MFSD6:NM_001375988:exon3:c.C1174T:p.R392C,MFSD6:NM_001375992:exon3:c.C1174T:p.R392C,MFSD6:NM_017694:exon3:c.C1174T:p.R392C	.	435	1083	4	0	0	4	0.00184332	.	.	.	3446711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0680465331112	7.7e-05	.	7.416e-05	9.612e-05	8.645e-05	0	0	0.0001	0	0	9.7e-05	15	154602	rs368765746	6.635e-05	6.635e-05	6.534e-05	6.738e-05	0.0029	5.561e-05	5.152e-05	0.0019	0.0015	8.961e-05	0.0003	0	7.557e-05	0	0.0029	4.586e-05	0.0001	0	6.57e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.01	0.56456	D	0.008	0.67890	D	0.998	0.73220	D	0.613	0.51171	P	0.000224	0.47286	D	0.217162	0.997102	0.43633	D	1.39	0.34934	L	-1.58	0.81987	D	-3.12	0.63782	D	0.332	0.37301	-0.1257	0.79502	T	0.441	0.77909	T	10	0.39671633	0.55279	T	0.068047	0.70339	D	0.420	0.72930	.	.	0.723527460954	0.72108	0.7873653540548109	0.78688	1.12360715339	0.78375	0.402991592884	0.25486	T	0.062561	0.31948	T	-0.118679	0.33341	T	-0.106529	0.62886	T	0.226155827918212	0.21767	T	0.943606	0.78679	D	0.10353159	0.24472	0.11786497	0.28451	0.10353159	0.24472	0.11786497	0.28450	-7.862	0.60126	D	.	.	0.113	0.22464	B	.;.	.;.	5.372535	0.90062	31	0.9992037126755613	0.98721	0.98231	0.80757	D	AEFBI	0.704587	0.66026	D	0.437868019542799	0.63519	4.587095	0.538613041112904	0.70608	5.530416	0.999999665565703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	3.547000	0.53416	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.848	0.96719	696	0.58299	Major facilitator superfamily associated domain;Major facilitator superfamily associated 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	.	.	.	.	.	.	.	.	0.08333	2043.83	34	chr2	190437203	.	C	T	2043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.997;DP=430;ExcessHet=0;FS=6.279;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.44;SOR=0.508	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	5	0	1	0
chr2	195680657	195680657	G	C	exonic	SLC39A10	.	nonsynonymous SNV	SLC39A10:NM_001127257:exon2:c.G615C:p.E205D,SLC39A10:NM_020342:exon2:c.G615C:p.E205D	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00783370889264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.324	0.18903	T	0.0	0.02946	B	0.002	0.06944	B	0.042962	0.23786	N	0.454642	0.904877	0.81001	D	0.255	0.09829	N	-0.07	0.63738	T	-0.66	0.19085	N	0.058	0.03175	-0.9300	0.44139	T	0.159	0.49313	T	10	0.03588161	0.01858	T	0.007834	0.20773	T	0.098	0.28162	0.08	0.00663	0.143184338766	0.13958	0.18248859834087128	0.18167	0.197794194553	0.22146	0.306092590094	0.11317	T	0.009626	0.08755	T	-0.23467	0.16035	T	-0.574864	0.15006	T	0.056316962129101	0.06575	T	0.653935	0.26417	T	0.035487074	0.04187	0.02863399	0.01117	0.035487074	0.04187	0.02863399	0.01117	-3.896	0.22243	T	.	.	0.079	0.07318	B	.;.	.;.	1.296150	0.16976	12.88	0.98602576162104749	0.43533	0.84310	0.43392	D	AEFDBIJ	0.177060	0.30429	N	-0.457635708612576	0.23482	1.26133	-0.348299306977514	0.26562	1.467955	0.0706669308278067	0.15537	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	2.06	0.25932	-0.065000	0.11575	2.016000	0.30187	-0.127000	0.13314	0.324000	0.25538	1.000000	0.68203	0.995000	0.73285	0.2721:0.0:0.469:0.2589	4.265	0.10208	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1634.83	113	chr2	195680657	.	G	C	1634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.709;DP=301;ExcessHet=0;FS=0.698;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.672;SOR=0.73	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1474	5	0	1	0
chr2	195754381	195754381	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon63:c.A11720G:p.Y3907C	.	430	1089	3	0	0	3	0.00137552	.	.	.	719495	DNAH7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0106761640167	0.0060	0.00159744	0.0047	0.0010	0.0027	0.0001	0.0005	0.0074	0.0022	0.0012	0.0048576	751	154602	rs78583300	0.0071	0.0071	0.0071	0.0070	0.0086	0.0070	0.0069	0.0084	0.0084	0.0009	0.0035	0.0056	2.519e-05	0.0008	0.0038	0.0086	0.0054	0.0012	0.0048	0.0048	0.0051	0.0046	0.0080	0.0045	0.0044	0.0074	0.0072	0.0018	0.0011	0.0052	0.0046	0.0002	0.0008	0.0034	0.0080	0.0047	0.0004	0.001	0.78490	D	0.019	0.59159	D	0.996	0.68779	D	0.976	0.73562	D	0.000008	0.62929	D	0.063405	0.999979	0.53665	D	1.16	0.29674	L	3.1	0.08283	T	-6.82	0.92980	D	0.689	0.74826	-1.1653	0.00635	T	0.032	0.13635	T	10	0.01423794	0.00300	T	0.010676	0.27493	T	0.151	0.39764	.	.	0.495706241231	0.49207	0.7360897334927505	0.73553	0.244017115261	0.26914	0.666697025299	0.62366	T	0.046358	0.27401	T	-0.368827	0.03653	T	-0.294609	0.45291	T	0.0522586819699049	0.05892	T	0.963604	0.88895	D	0.56590676	0.70835	0.63134664	0.78493	0.52081996	0.68308	0.6452754	0.79263	-7.398	0.61560	T	.	.	0.177	0.38693	B	.;.	.;.	4.244275	0.64379	24.7	0.99823895470292179	0.90677	0.97528	0.75337	D	AEFGI	0.818813	0.73998	D	0.589436033559648	0.72514	5.817856	0.60441171798465	0.75261	6.279162	0.756387089018984	0.23440	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	3.411000	0.52425	4.132000	0.42036	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1422:0.0:0.0:0.8578	10.719	0.45226	929	0.16858	.;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.1667	1935.06	33	chr2	195754381	.	T	C	1935.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.735;DP=288;ExcessHet=0.4139;FS=0.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.12;SOR=0.603	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1040,0,659	4	0	2	0
chr2	195897720	195897720	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon29:c.A4594G:p.I1532V	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	.	0.0117812	0.0053	0	0.0003	0.0137	0	0.0003	0.0022	0.0297	0.0046507	719	154602	rs139274808	0.0020	0.0020	0.0013	0.0026	0.0251	0.0019	0.0019	0.0242	0.0238	3.033e-05	2.297e-05	3.87e-05	0.0090	1.879e-05	0.0021	0.0002	0.0035	0.0251	0.0015	0.0015	0.0011	0.0019	0.0284	0.0014	0.0013	0.0245	0.0230	7.38e-05	0	0.0003	0	0.0135	0	0.0034	0.0002	0.0024	0.0284	0.03	0.45393	D	.	.	.	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	1.9	0.23486	T	-0.94	0.25118	N	0.608	0.62526	-0.9657	0.38073	T	0.115	0.40786	T	10	0.0071324706	0.00162	T	.	.	.	0.171	0.43483	.	.	0.489449420884	0.48578	0.32496646133411633	0.32409	0.145879884448	0.16476	0.68594700098	0.65123	T	0.028318	0.20539	T	-0.412568	0.01912	T	-0.354371	0.38702	T	0.0680273783062483	0.08371	T	0.953705	0.82322	D	0.22089803	0.44655	0.20728335	0.44980	0.22089803	0.44655	0.20728335	0.44979	-7.907	0.60435	D	.	.	0.127	0.26978	B	.	.	3.732384	0.53402	23.4	0.99918361825095703	0.98586	0.97077	0.72555	D	AEFBI	0.805554	0.73011	D	0.720277453289721	0.80960	7.412028	0.717982659884083	0.83744	8.102917	0.999922993960766	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.109000	0.64456	5.031000	0.46827	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.024	0.80333	915	0.20917	.	.	.	.	.	rs139274808	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.007576	0.08333	806.83	28	chr2	195897720	.	T	C	806.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.196;DP=230;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.107;SOR=0.297	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,967	5	0	1	0
chr2	195960302	195960302	A	G	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon18:c.T2849C:p.M950T	.	439	1081	2	0	0	2	0.000924214	.	.	.	3190209	DNAH7-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.829	.	.	0.00279553	0.0008	0.0001	0	0	0	3.01e-05	0.0011	0.0056	0.0007244	112	154602	rs531993818	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	0	0	0	2.52e-05	0	0	2.698e-05	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	.	.	.	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-0.17	0.65563	T	-5.84	0.88431	D	0.94	0.94668	0.502	0.90579	D	0.592	0.85425	D	10	0.042783886	0.03061	T	.	.	.	0.829	0.94579	0.843	0.94784	0.540970351286	0.53750	0.8382348530395138	0.83783	0.244108975002	0.26919	0.749585747719	0.74385	T	0.459239	0.79690	T	0.000893146	0.51777	T	0.228773	0.84612	D	0.224342668826181	0.21678	T	0.975702	0.91457	D	0.93431646	0.94670	0.9590428	0.98920	0.93431646	0.94671	0.9590428	0.98921	-9.206	0.69013	D	.	.	0.904	0.83015	P	.	.	3.685207	0.52475	23.2	0.9934375227822787	0.60291	0.99344	0.94786	D	AEFI	0.906735	0.85987	D	1.03355316753595	0.96686	15.00938	0.945806938768948	0.97277	15.86383	0.999546160208281	0.40300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	9.297000	0.95224	11.155000	0.87468	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.526	0.75641	917	0.20147	Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1015.83	33	chr2	195960302	.	A	G	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.019;DP=274;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.27;SOR=0.828	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1026,0,1432	5	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	186.71	43	chr2	197523648	.	T	C	186.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-0.62;DP=213;ExcessHet=0.5115;FS=135.166;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.34;SOR=6.516	GT:AD:DP:GQ:PL	./.:25,0:25:0:0,0,173	0	0	2	4
chr2	198085044	198085044	G	C	exonic	PLCL1	.	nonsynonymous SNV	PLCL1:NM_006226:exon2:c.G1527C:p.K509N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0151017167208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.122	0.35710	T	0.122	0.26746	B	0.219	0.37734	B	0.000407	0.44736	D	0.159094	0.979387	0.39556	D	1.08	0.27187	L	0.64	0.52867	T	-1.88	0.43906	N	0.359	0.40063	-1.0489	0.14705	T	0.110	0.39699	T	9	0.19637656	0.35526	T	0.015102	0.35634	T	0.051	0.14325	0.454	0.51775	0.307648195649	0.30373	0.3722203476784088	0.37136	0.570573104632	0.53213	0.490162491798	0.37461	T	0.103934	0.41305	T	-0.169909	0.25248	T	-0.481839	0.24251	T	0.413396328687668	0.29445	T	0.812119	0.46368	T	0.24722166	0.47698	0.19290069	0.42830	0.24722166	0.47698	0.19290069	0.42829	-6.553	0.50694	T	.	.	0.270	0.54580	B	.;.;.	.;.;.	2.040703	0.25936	16.94	0.99155871195980494	0.53959	0.91604	0.53876	D	AEFBI	0.401540	0.47599	N	-0.318252924698682	0.28455	1.569621	-0.203952619665045	0.31394	1.77628	1.22720184401209E-4	0.05386	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.94	1.11	0.19640	1.080000	0.30390	0.699000	0.20831	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.995000	0.73285	0.3404:0.0:0.6596:0.0	10.928	0.46413	716	0.55970	Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain;Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X domain|Phosphatidylinositol-specific phospholipase C, X 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	.	.	.	.	.	.	.	.	0.08333	1599.83	139	chr2	198085044	.	G	C	1599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.199;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=2.05;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	5	0	1	0
chr2	201491710	201491710	G	A	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.C4631T:p.P1544L	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.011935293154	.	0.000399361	0.0019	0	0	0	0	0.0034	0	0.0015	0.0003816	59	154602	rs149839128	0.0006	0.0006	0.0006	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	6.332e-05	0.0001	0.0114	0	0	0.0012	0.0004	0.0013	0.0013	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0005	0.0004	7.224e-05	0	0.0002	0.0115	0	0	0.0102	0.0006	0.0005	0.0012	0.27	0.16038	T	0.455	0.12776	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.97	0.42502	T	-4.71	0.79915	D	0.144	0.14480	-1.0081	0.27510	T	0.073	0.29547	T	9	0.0046646893	0.00098	T	0.011935	0.30037	T	0.017	0.02790	.	.	0.115124310173	0.11017	0.06060005685233868	0.06000	0.201567771287	0.22553	0.269688099623	0.06100	T	.	.	.	-0.654801	0.00068	T	-0.732367	0.04221	T	0.0179762314626022	0.00522	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	0.142	0.31228	B	.	.	1.215757	0.16094	12.31	0.99417804313482172	0.63597	0.03681	0.08950	N	AEFBI	0.087916	0.17824	N	-0.824887943302275	0.12675	0.6194099	-0.830363664868057	0.13761	0.7155965	5.56594895951049E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	3.31	0.37025	-0.085000	0.11215	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.148000	0.20235	0.0943:0.1723:0.5555:0.1779	3.369	0.06793	571	0.70397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1532.83	118	chr2	201491710	.	G	A	1532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.246;DP=304;ExcessHet=0;FS=2.361;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.11;SOR=0.784	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	5	0	1	0
chr2	202918042	202918042	A	C	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon2:c.A41C:p.K14T,CARF:NM_001322429:exon2:c.A41C:p.K14T	.	436	1084	2	0	0	2	0.000921659	0.6988	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00421114013075	.	0.000798722	0.0048	0	0	0	.	0	0.0085	0.0067	0.0003558	55	154602	rs559310200	0.0014	0.0007	0.0006	0.0020	0.0071	0.0013	0.0013	0.0065	0.0063	0	0	0	0	0	0.0004	0	0.0007	0.0071	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	1.47e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	134.83	13	chr2	202918042	.	A	C	134.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.054;DP=97;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-0.931;SOR=1.179	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,524	5	0	1	0
chr2	205615460	205615460	G	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon22:c.G3058C:p.G1020R,PARD3B:NM_152526:exon22:c.G3079C:p.G1027R,PARD3B:NM_205863:exon22:c.G2962C:p.G988R,PARD3B:NM_001302769:exon23:c.G3265C:p.G1089R	.	416	1101	5	0	0	5	0.00226552	.	.	.	2266491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.016244658253	0.0002	0.000399361	0.0005	0.0002	0.0007	0	0	0.0007	0.0012	0	0.0004851	75	154602	rs193187748	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	6.12e-05	0.0011	4.104e-05	0	3.795e-05	0.0011	0.0004	0.0004	7.277e-05	0.0004	0.0004	0.0003	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	4.814e-05	0	0.0016	0	0	0.0002	0	0.0004	0	0.0004	0.004	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000633	0.42799	N	0.105398	0.911437	0.36422	D	2.57	0.75187	M	2.59	0.15843	T	-1.98	0.46146	N	0.53	0.73826	-0.9123	0.46569	T	0.104	0.38169	T	10	0.036987484	0.02027	T	0.016245	0.37414	T	0.186	0.46104	0.247	0.18293	0.469826472337	0.46610	0.31798902244741967	0.31711	0.19097760818	0.21418	0.599527895451	0.52837	T	0.010219	0.25277	T	-0.385048	0.02894	T	-0.376312	0.36154	T	0.0785529174815552	0.09801	T	0.945305	0.79188	D	0.09247276	0.21695	0.13827808	0.33028	0.09247276	0.21694	0.13827808	0.33028	-2.049	0.05053	T	.	.	0.246	0.48018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.341217	0.46043	22.2	0.99555551238193229	0.71397	0.96227	0.68120	D	AEFBI	0.631197	0.61226	D	-0.0796649417544212	0.38284	2.239974	-0.0640798595359811	0.36887	2.152511	0.912262265444728	0.26390	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	6.07	4.29	0.50359	5.833000	0.69056	5.790000	0.49863	-0.642000	0.04431	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.1242:0.0:0.8758:0.0	13.191	0.59132	882	0.29131	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	827.83	34	chr2	205615460	.	G	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.765;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.824;SOR=0.843	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	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,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	1	0	0.003535	0.000000	0.001359	0.002959	0.000000	0.008621	0.003049	0.015152	0.08333	727.83	33	chr2	206009583	.	T	C	727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.881;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=0.353;SOR=0.548	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr2	206176878	206176878	T	C	exonic	GPR1	.	nonsynonymous SNV	GPR1:NM_001098199:exon3:c.A370G:p.S124G,GPR1:NM_001261454:exon3:c.A370G:p.S124G,GPR1:NM_001261455:exon3:c.A370G:p.S124G,GPR1:NM_005279:exon3:c.A370G:p.S124G,GPR1:NM_001261452:exon4:c.A370G:p.S124G,GPR1:NM_001261453:exon4:c.A370G:p.S124G	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003525	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.011364	0.08333	827.83	36	chr2	206176878	.	T	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.495;DP=387;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.36;SOR=0.537	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr2	206306587	206306587	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2059T:p.R687C,ZDBF2:NM_001369654:exon6:c.C2059T:p.R687C,ZDBF2:NM_001285549:exon7:c.C2053T:p.R685C	.	426	1086	10	0	0	10	0.00458295	.	.	.	697264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0035	0.00379393	0.0040	0.0009	0.0015	0.0002	0.0006	0.0040	0.0068	0.0107	0.0039844	616	154602	rs192597586	0.0047	0.0047	0.0045	0.0049	0.0095	0.0046	0.0046	0.0090	0.0088	0.0005	0.0021	0.0026	5.039e-05	0.0004	0.0033	0.0050	0.0041	0.0095	0.0030	0.0030	0.0032	0.0027	0.0077	0.0027	0.0026	0.0057	0.0050	0.0007	0.0044	0.0028	0.0040	0	0.0004	0	0.0046	0.0014	0.0077	0.072	0.34982	T	0.03	0.54159	D	0.143	0.27649	B	0.005	0.11217	B	0.204098	0.16527	N	0.460073	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.02	0.07299	N	0.073	0.04668	-1.0676	0.09948	T	0.027	0.11751	T	10	0.004863441	0.00104	T	.	.	.	0.072	0.21020	.	.	0.18995819373	0.18626	0.05791993812508963	0.05732	0.0862770978425	0.09741	0.234137713909	0.02288	T	0.00349	0.09129	T	-0.655254	0.00067	T	-0.706042	0.05501	T	0.0121225805317121	0.00193	T	.	.	.	0.05399236	0.10297	0.033078384	0.02143	0.05399236	0.10296	0.033078384	0.02143	-5.108	0.37991	T	.	.	0.101	0.17742	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.946820	0.13229	9.728	0.92072997945247037	0.21420	0.02386	0.06774	N	AEFBI	0.038963	0.05590	N	-1.07273575931547	0.07149	0.3312424	-1.09082094671271	0.07880	0.3851052	0.117035133085202	0.16792	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.586402	0.36253	0	.	.	4.51	0.754	0.17558	-1.458000	0.02478	-1.114000	0.06289	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1723:0.473:0.1669:0.1877	1.523	0.02367	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1747.83	87	chr2	206306587	.	C	T	1747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.387;DP=420;ExcessHet=0;FS=0.704;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.139;SOR=0.602	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	5	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G,ZDBF2:NM_001369654:exon6:c.A4115G:p.D1372G,ZDBF2:NM_001285549:exon7:c.A4109G:p.D1370G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1304.83	70	chr2	206308643	.	A	G	1304.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=361;ExcessHet=0;FS=2.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.982;SOR=1.041	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	5	0	1	0
chr2	206663253	206663253	-	CC	exonic	DYTN	.	frameshift insertion	DYTN:NM_001093730:exon11:c.1282_1283insGG:p.E428Gfs*61	.	426	1072	21	3	0	27	0.0124367	.	.	.	576096	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0042	0.0003	0.0015	0	0.0009	0.0030	0.0045	0.0167	0.0004226	11	26028	rs534558800	0.0035	0.0035	0.0030	0.0040	0.0180	0.0034	0.0034	0.0173	0.0170	0.0002	0.0010	0.0084	2.519e-05	0.0022	0.0049	0.0026	0.0032	0.0180	0.0024	0.0024	0.0023	0.0024	0.0180	0.0022	0.0021	0.0150	0.0139	0.0006	0	0.0006	0.0052	0	0.0014	0	0.0030	0.0028	0.0180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	1720.79	34	chr2	206663253	.	T	TCC	1720.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.258;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=1.11;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	5	0	1	0
chr2	207613048	207613048	A	G	exonic	METTL21A	.	stoploss	METTL21A:NM_001127395:exon4:c.T655C:p.X219Q,METTL21A:NM_001330130:exon4:c.T655C:p.X219Q,METTL21A:NM_001330134:exon4:c.T655C:p.X219Q,METTL21A:NM_145280:exon4:c.T655C:p.X219Q,METTL21A:NM_001330137:exon5:c.T709C:p.X237Q	.	511	1008	1	2	0	5	0.00247402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0006	0	0.0012	0	0.0008	0.0006	0.0038	0.0006	0.0004851	75	154602	rs183039329	0.0004	0.0004	0.0003	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	0.0004	0.0010	0.0031	0	0.0006	0.0040	0.0002	0.0008	0.0003	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0004	0.0003	0.0002	9.617e-05	0	0.0005	0.0049	0	0.0023	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.063	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243921	0.14853	T	-0.173593	0.57115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	2.264265	0.28933	17.96	0.81393399985358117	0.13663	0.99662	0.98450	D	AEBI	.	.	.	1.0914305162056	0.97972	17.145	0.924812591626516	0.96565	14.85511	0.999999124994118	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.343423	0.05949	0	0.24566	0.04862	0	0.973043	0.75444	4.76	4.76	0.60189	7.915000	0.86891	10.849000	0.83934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	1.0:0.0:0.0:0.0	14.727	0.68964	598	0.68232	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.040404	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	702.83	33	chr2	207613048	.	A	G	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.522;DP=228;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.202;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	5	0	1	0
chr2	207976867	207976867	C	T	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon3:c.G1330A:p.A444T	.	433	1081	7	1	0	9	0.00414556	.	.	.	2379077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0190962533871	8.2e-05	.	9.113e-05	0	8.651e-05	0	0	7.494e-05	0	0.0003	7.12e-05	11	154602	rs201268173	6.225e-05	6.225e-05	5.309e-05	7.15e-05	0.0012	5.161e-05	4.78e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	4.317e-05	0.0002	0.0002	9.197e-05	9.193e-05	6.422e-05	0.0001	0.0005	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	7.348e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	2.56	0.13673	T	-2.76	0.58569	D	0.841	0.83678	-0.6192	0.64022	T	0.316	0.68575	T	10	0.71842	0.73499	D	0.019096	0.41369	T	0.395	0.71004	.	.	0.317526407968	0.31361	0.5609466324766768	0.56021	0.624344103429	0.56642	0.621729671955	0.55974	T	0.69713	0.91246	D	-0.127587	0.31888	T	-0.124854	0.61402	T	0.6705482006073	0.39362	D	.	.	.	0.6926386	0.77655	0.68618435	0.81546	0.6926386	0.77656	0.68618435	0.81547	-7.908	0.60442	D	.	.	0.446	0.62003	A	.;.	.;.	4.458588	0.69369	25.4	0.99943744546614399	0.99868	0.98871	0.87966	D	AEFBI	0.759830	0.69804	D	0.436936300156282	0.63466	4.580863	0.531066759721349	0.70090	5.454498	0.99999999993828	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.165000	0.77109	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.548	0.95299	739	0.53257	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	1383.83	33	chr2	207976867	.	C	T	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.5;DP=252;ExcessHet=0;FS=4.579;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=-0.691;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1257	5	0	1	0
chr2	209793761	209793761	C	G	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_001371986:exon7:c.C840G:p.I280M,UNC80:NM_032504:exon7:c.C840G:p.I280M,UNC80:NM_182587:exon7:c.C840G:p.I280M	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	414	1106	2	0	0	2	0.000903342	.	.	.	1342314	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_2|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014777,MedGen:C4225203,OMIM:616801,Orphanet:371364|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.0023963265619	0.0002	0.000199681	0.0005	0.0002	0.0003	0	0.0002	0.0007	0.0011	0.0005	0.0005369	83	154602	rs142126808	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0006	8.961e-05	0.0004	0	2.519e-05	0.0004	0.0002	0.0007	0.0005	0.0008	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	9.622e-05	0	0.0005	0	0	0.0003	0	0.0007	0	0.0002	0.079	0.33753	T	0.113	0.36901	T	0.011	0.15914	B	0.013	0.16460	B	0.017820	0.27632	N	0.391655	0.998234	0.22276	N	0.345	0.11182	N	1.47	0.31987	T	-0.28	0.11547	N	0.141	0.15328	-1.0908	0.05400	T	0.043	0.18701	T	10	0.019459516	0.00435	T	0.002396	0.04673	T	0.010	0.01040	.	.	0.0716867268079	0.06686	0.16231682837212077	0.16151	0.343084062525	0.36237	0.349116533995	0.17792	T	0.031178	0.21924	T	-0.55784	0.00261	T	-0.65958	0.08294	T	0.00622321941114373	0.00069	T	0.741226	0.36032	T	0.06507903	0.13874	0.06342325	0.12561	0.06507903	0.13874	0.06342325	0.12561	-4.295	0.28149	T	.	.	0.083	0.09191	B	.;.	.;.	1.877155	0.23844	16.17	0.9222565022972089	0.21600	0.81674	0.41031	D	AEFI	0.285648	0.39823	N	-0.4903382203138	0.22397	1.19562	-0.328873585543794	0.27171	1.505821	5.3096257696072E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.11	2.28	0.27583	1.214000	0.32023	0.941000	0.22852	-0.192000	0.09343	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.5646:0.2769:0.1585	6.731	0.22569	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	960.83	35	chr2	209793761	.	C	G	960.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.833;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.005;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	5	0	1	0
chr2	209878039	209878039	C	T	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_001371986:exon24:c.C3926T:p.T1309I,UNC80:NM_032504:exon24:c.C3932T:p.T1311I,UNC80:NM_182587:exon24:c.C3917T:p.T1306I	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	418	1098	5	1	0	7	0.00317749	.	.	.	697288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.221	.	0.0072	0.00179712	0.0061	0.0014	0.0024	0	0.0080	0.0091	0	0.0043	0.0018823	291	154602	rs78846221	0.0087	0.0084	0.0087	0.0087	0.0101	0.0086	0.0085	0.0099	0.0098	0.0012	0.0015	0.0028	0	0.0090	0.0018	0.0101	0.0070	0.0031	0.0062	0.0062	0.0064	0.0059	0.0101	0.0058	0.0057	0.0094	0.0092	0.0018	0	0.0018	0.0032	0.0002	0.0104	0.0068	0.0101	0.0033	0.0044	0.048	0.40068	D	0.0	0.92824	D	0.95	0.53885	P	0.648	0.52381	P	0.000000	0.84330	D	0.000000	0.862768	0.35418	D	0.69	0.16971	N	1.46	0.32238	T	-2.21	0.49684	N	0.34	0.39153	-1.1017	0.03892	T	0.069	0.28247	T	10	0.006829798	0.00155	T	.	.	.	0.221	0.51721	.	.	0.298403945805	0.29456	0.7920771823516041	0.79159	0.963323052377	0.73079	0.870447874069	0.92631	D	0.11355	0.43068	T	-0.361465	0.04048	T	-0.280319	0.46772	T	0.0205152964166896	0.00751	T	0.933007	0.74900	D	0.27861664	0.50914	0.34997913	0.60614	0.27886018	0.50938	0.34997913	0.60614	-3.458	0.15849	T	.	.	0.372	0.57938	A	.;.	.;.	4.304690	0.65759	24.9	0.99873627071780191	0.95076	0.94168	0.60319	D	AEFBI	0.596494	0.59064	D	0.531044584787285	0.68935	5.286244	0.61984606126709	0.76381	6.480759	0.998458076251684	0.36996	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.05	6.05	0.98156	4.573000	0.60606	5.977000	0.52101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.609	0.99471	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001129	0.000000	0.005814	0.000000	0.000000	0.000000	0.005556	0.000000	0.1667	2551.04	81	chr2	209878039	.	C	T	2551.04	.	AC=2;AF=0.167;AN=12;DP=255;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.49;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	5	1	0	0
chr2	209976964	209976964	A	G	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_032504:exon57:c.A8626G:p.I2876V,UNC80:NM_182587:exon57:c.A8611G:p.I2871V,UNC80:NM_001371986:exon58:c.A8824G:p.I2942V	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	425	1092	5	0	0	5	0.00228415	.	.	.	1570094	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.221	.	.	0.00678914	0.0102	0	0.0025	0	0	0.0003	0.0042	0.0274	0.0016817	260	154602	rs545874590	0.0016	0.0015	0.0009	0.0024	0.0262	0.0016	0.0015	0.0253	0.0249	0	0.0001	0	2.844e-05	0.0002	0.0039	3.951e-05	0.0015	0.0262	0.0009	0.0009	0.0004	0.0013	0.0255	0.0007	0.0007	0.0219	0.0205	4.81e-05	0	0	0	0.0004	0.0002	0	1.47e-05	0	0.0255	0.122	0.34621	T	0.0	0.92824	D	0.65	0.40644	P	0.743	0.55802	P	.	.	.	.	0.999096	0.46054	D	0.425	0.12573	N	1.36	0.34452	T	-0.74	0.22508	N	0.387	0.45237	-0.8597	0.51284	T	0.112	0.40052	T	9	0.0047326684	0.00100	T	.	.	.	0.221	0.51721	0.239	0.17065	0.239305524855	0.23518	0.8829710913211554	0.88265	0.804979276587	0.66421	0.70993578434	0.68584	T	0.055776	0.30101	T	-0.416372	0.01805	T	-0.351269	0.39060	T	0.0768926563031052	0.09585	T	0.916408	0.73679	D	0.13228373	0.30807	0.16224541	0.37698	0.095843606	0.22563	0.16652462	0.38465	-3.463	0.16572	T	0.17081618414334662	0.21499	0.168	0.36947	B	.;.;.	.;.;.	3.609684	0.51028	23.0	0.99864573978875915	0.94276	0.97193	0.73238	D	AEHCI	0.913492	0.87556	D	0.261402319133583	0.54206	3.586733	0.29892841644106	0.55475	3.710705	0.999893821480129	0.45129	0.594549	0.33734	0	0.573888	0.26702	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	5.39	5.39	0.77615	7.280000	0.77977	9.379000	0.80502	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	1.0:0.0:0.0:0.0	15.411	0.74646	748	0.52143	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001256	0.000000	0.000000	0.000000	0.000000	0.000000	0.005952	0.013158	0.08333	1761.83	33	chr2	209976964	.	A	G	1761.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.8;DP=335;ExcessHet=0;FS=1.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.611;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1290	5	0	1	0
chr2	210017836	210017836	C	A	exonic	RPE	.	nonsynonymous SNV	RPE:NM_001318927:exon6:c.C611A:p.A204D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.000684127869841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934212512	0	1.57e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.45039	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-1.51	0.36787	N	0.108	0.09914	-1.0056	0.28277	T	0.079	0.31284	T	4	0.12419018	0.23585	T	6.84E-4	0.00400	T	0.051	0.14325	0.394	0.41935	0.223146558224	0.21909	.	.	.	.	.	.	.	0.30414	0.67646	T	-0.304193	0.08269	T	-0.674729	0.07309	T	0.0388248983945665	0.03479	T	0.947605	0.79780	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22644	B	.;.	.;.	0.356660	0.07293	3.903	0.32738567776136618	0.01913	0.01614	0.05222	N	AEFBI	0.033356	0.03938	N	-0.740981915825071	0.14879	0.7450317	-0.985858281129147	0.10103	0.5067107	0.0387554127150278	0.14362	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.225	0.225	0.14598	0.483000	0.22001	-0.637000	0.08096	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	734	0.53889	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	30.01	4	chr2	210017836	.	C	A	30.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	5	0	1	0
chr2	211623957	211623957	C	T	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon18:c.G2167A:p.V723I,ERBB4:NM_005235:exon18:c.G2167A:p.V723I	Amyotrophic lateral sclerosis 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3259355	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00387351364831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365046282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26519	T	0.278	0.23164	T	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.84330	D	0.055022	0.999755	0.48800	D	0.725	0.18768	N	-0.0	0.62608	T	-0.29	0.12847	N	0.243	0.28028	-0.9568	0.39771	T	0.141	0.46016	T	10	0.31255132	0.48714	T	0.003874	0.09086	T	0.047	0.12962	0.667	0.80502	0.448695639987	0.44491	0.1522767665049222	0.15149	0.27203420468	0.29712	0.685653924942	0.65081	T	0.233959	0.80928	T	-0.176415	0.24271	T	-0.491184	0.23266	T	0.372903937249515	0.27909	T	0.948705	0.80271	D	0.2770885	0.50768	0.20443948	0.44568	0.2770885	0.50768	0.20443948	0.44567	-5.138	0.39366	T	0.13534109056786978	0.14702	0.062	0.01309	B	.;.;.	.;.;.	2.594079	0.33655	19.40	0.99440988872475766	0.64770	0.88143	0.47942	D	AEFI	0.344753	0.44014	N	-0.0841066396079193	0.38088	2.225563	0.125936881691276	0.45881	2.843425	0.587392781927758	0.21619	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.5	5.5	0.81386	3.359000	0.52012	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.925:0.0:0.075	12.712	0.56462	768	0.49510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	606.83	33	chr2	211623957	.	C	T	606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.139;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	5	0	1	0
chr2	215333431	215333431	T	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon9:c.T896A:p.I299N	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.166441564802	.	.	2.471e-05	0	8.639e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs777028878	1.231e-05	1.231e-05	4.084e-06	2.063e-05	0.0002	7.7e-06	6.35e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	3.597e-06	0	0.0002	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.601	0.39346	P	0.57	0.49854	P	0.022064	0.26706	N	0.421784	0.999544	0.21009	N	2.71	0.79292	M	-1.51	0.81399	D	-4.68	0.79659	D	0.664	0.67304	-0.0169	0.81903	T	0.620	0.86601	D	10	0.96587676	0.96070	D	0.166442	0.84506	D	0.522	0.79704	0.847	0.95025	0.76359754505	0.76143	0.8462218189206467	0.84583	0.286173745657	0.31023	0.278636813164	0.07304	T	0.714452	0.91880	D	-0.0451465	0.45181	T	-0.0999723	0.63400	T	0.89344322681427	0.54467	D	0.987751	0.95824	D	0.8306699	0.85949	0.76298255	0.85997	0.8306699	0.85950	0.76298255	0.85998	-8.683	0.66525	D	0.22429183492237345	0.30289	0.601	0.70056	P	.;.	.;.	3.236889	0.44165	21.9	0.98855225681011705	0.47373	0.97611	0.75892	D	AEFDBI	0.746429	0.68880	D	0.257388636759128	0.54006	3.567271	0.200985006067389	0.49902	3.188032	0.999999999909955	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	6.273000	0.72598	2.823000	0.34975	0.660000	0.55035	0.995000	0.38783	0.236000	0.23818	0.011000	0.09372	0.0:0.0:0.0:1.0	16.108	0.81044	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2749.0	67	chr2	215333431	.	T	A	2749.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.985;DP=276;ExcessHet=0;FS=2.836;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.382;SOR=0.412	GT:AD:DP:GQ:PL	0/1:30,39:69:99:922,0,734	4	1	1	0
chr2	217835109	217835109	T	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon18:c.A2887G:p.S963G,TNS1:NM_001308023:exon19:c.A2887G:p.S963G,TNS1:NM_022648:exon19:c.A2887G:p.S963G	.	425	1080	17	0	0	17	0.00780891	.	.	.	3211380	TNS1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.393	0.106410655065	.	0.000199681	0.0010	0	0	0.0001	0.0002	0.0005	0	0.0049	0.0008861	137	154602	rs201800226	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.362e-05	7.868e-05	0	0	0	0.0025	0.0003	0.0008	0.0043	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	7.215e-05	0	0.0001	0	0	0	0	0.0004	0.0014	0.0027	0.005	0.63226	D	0.089	0.55759	T	0.85	0.61523	P	0.281	0.43650	B	0.967421	0.07756	N	1.015350	0.998821	0.45510	D	2.075	0.57047	M	-3.01	0.92457	D	-1.9	0.44284	N	0.41	0.45047	0.041	0.83074	D	0.644	0.87575	D	10	0.00945285	0.00213	T	0.106411	0.78200	D	0.393	0.70844	.	.	0.778334313524	0.77629	0.3624967717252459	0.36163	0.113200891925	0.12776	0.473637521267	0.35181	T	0.095558	0.39645	T	-0.177945	0.24042	T	-0.0278417	0.68511	D	0.0310361588703694	0.02151	T	0.863614	0.58780	D	0.15090305	0.34331	0.1746471	0.39875	0.15090305	0.34331	0.1746471	0.39875	-6.372	0.49291	T	.	.	0.095	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.306134	0.45409	22.1	0.99562357059714002	0.71831	0.94422	0.61114	D	AEFBI	0.695923	0.65443	D	0.14108985190973	0.48390	3.051922	0.233805037125471	0.51731	3.353321	0.999999015720487	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	5.196000	0.64973	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.252000	0.23314	0.0:0.0:0.0:1.0	14.375	0.66432	947	0.11584	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003033	0.000000	0.002717	0.000000	0.000000	0.000000	0.018634	0.003788	0.08333	368.83	33	chr2	217835109	.	T	C	368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.725;DP=216;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.831;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	5	0	1	0
chr2	217836106	217836106	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon17:c.C2738T:p.P913L,TNS1:NM_001308023:exon18:c.C2738T:p.P913L,TNS1:NM_022648:exon18:c.C2738T:p.P913L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0832875474186	0.0003	0.00139776	0.0008	0	8.639e-05	0	0	0.0002	0.0022	0.0049	0.000718	111	154602	rs141836163	0.0004	0.0004	0.0002	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	0	6.709e-05	0	2.519e-05	1.872e-05	0.0030	9.982e-05	0.0006	0.0051	0.0003	0.0003	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0	0	0	0	0.0002	0.0005	0.0058	0.011	0.72154	D	0.677	0.12632	T	0.963	0.62824	D	0.635	0.55764	P	0.000147	0.49130	D	0.180261	0.999992	0.58761	D	2.045	0.56016	M	-2.82	0.91192	D	-3.71	0.70674	D	0.665	0.67391	0.452	0.89864	D	0.671	0.88606	D	10	0.009260535	0.00209	T	0.083288	0.74084	D	0.458	0.75619	.	.	0.720037475653	0.71756	0.44613923953538404	0.44531	0.41460483688	0.42137	0.647432327271	0.59621	T	0.12961	0.45799	T	-0.0882384	0.38366	T	0.101291	0.76994	D	0.139081734822503	0.16196	T	0.965703	0.88031	D	0.18472059	0.39800	0.18038116	0.40833	0.18472059	0.39800	0.18038116	0.40832	-5.266	0.39606	T	.	.	0.127	0.28835	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.859136	0.79503	27.1	0.93431689394681916	0.23205	0.85909	0.45098	D	AEFDBCI	0.489260	0.52724	N	0.428560912021098	0.62999	4.525372	0.502899881247358	0.68187	5.185329	0.999999999651796	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.533000	0.53317	11.812000	0.96965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.074	0.89348	941	0.13089	.;.;.;.;.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	713.83	34	chr2	217836106	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.129;DP=253;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.047;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	5	0	1	0
chr2	217895047	217895047	G	C	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon6:c.C178G:p.L60V,TNS1:NM_001308023:exon7:c.C178G:p.L60V,TNS1:NM_022648:exon7:c.C178G:p.L60V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.233134763588	.	0.000199681	4.096e-05	0	0	0	0	0	0	0.0003	4.53e-05	7	154602	rs550206581	2.192e-05	2.394e-05	9.538e-06	3.445e-05	0.0004	1.587e-05	1.358e-05	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0004	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.032	0.72154	D	0.0	0.92824	D	0.998	0.77913	D	0.996	0.84481	D	0.374294	0.13481	U	0.281534	1	0.81001	D	2.47	0.71715	M	-5.25	0.98917	D	-2.72	0.60188	D	0.719	0.87590	1.011	0.97373	D	0.954	0.98511	D	10	0.57177246	0.65359	D	0.233135	0.88353	D	0.767	0.92129	0.65	0.78753	0.938642112973	0.93800	0.6245673244254387	0.62389	0.427907159633	0.43126	0.613863825798	0.54861	T	0.429	0.77821	T	0.249073	0.78516	D	0.452064	0.93627	D	0.504784641520107	0.32805	D	0.979435	0.93314	D	0.27956825	0.51007	0.17998526	0.40768	0.27956825	0.51007	0.17998526	0.40767	-6.611	0.51138	T	.	.	0.402	0.61161	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.863025	0.79599	27.1	0.99798521126835948	0.88372	0.99381	0.95289	D	AEFBI	0.909330	0.86581	D	0.712569490652993	0.80457	7.298306	0.719816133312373	0.83884	8.140192	0.99999999996402	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.41	5.41	0.78313	6.552000	0.73813	9.813000	0.81759	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0773:0.0:0.9227:0.0	12.341	0.54423	931	0.16308	Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;Tensin-type phosphatase domain;.;Tensin-type phosphatase 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	.	.	.	.	.	.	.	.	0.08333	839.83	35	chr2	217895047	.	G	C	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.337;DP=265;ExcessHet=0;FS=4.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.568;SOR=1.152	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr2	218263497	218263497	G	A	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.G773A:p.G258E,GPBAR1:NM_001077194:exon2:c.G773A:p.G258E,GPBAR1:NM_001321950:exon2:c.G773A:p.G258E,GPBAR1:NM_170699:exon2:c.G773A:p.G258E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00432565334512	.	.	4.295e-05	0	0	0	0	7.756e-05	0	0	2.59e-05	4	154602	rs767999122	6.17e-06	6.156e-06	8.184e-06	4.135e-06	7.199e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.199e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.028	0.54934	D	0.008	0.14655	B	0.009	0.14300	B	0.005967	0.32369	U	0.253800	0.815766	0.34704	D	0.35	0.11930	N	1.22	0.37052	T	-0.35	0.12847	N	0.153	0.15749	-1.0440	0.16118	T	0.056	0.23565	T	10	0.0821282	0.13521	T	0.004326	0.10498	T	0.017	0.02790	0.373	0.38503	0.386558576397	0.38273	0.5562134728474999	0.55548	0.056727989804	0.06270	0.526169538498	0.42496	T	0.060981	0.31532	T	-0.219988	0.17994	T	-0.417863	0.31321	T	0.120326938888494	0.14462	T	0.587441	0.21491	T	0.08528062	0.19776	0.119659066	0.28880	0.08528062	0.19775	0.119659066	0.28880	-5.299	0.39933	T	.	.	0.093	0.14523	B	.;.;.;.	.;.;.;.	1.778564	0.22614	15.69	0.91708935850823203	0.21003	0.68191	0.33709	D	AEFDBCI	0.203436	0.32995	N	-0.552018637542195	0.20421	1.076361	-0.485316463405955	0.22557	1.225783	0.999999748103505	0.74766	0.372202	0.05800	0	0.379588	0.06130	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	5.29	3.48	0.38946	1.641000	0.36812	5.163000	0.47799	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.1784:0.0:0.525:0.2966	4.063	0.09325	885	0.28214	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	.	.	.	.	.	.	.	.	0.08333	933.83	35	chr2	218263497	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=245;ExcessHet=0;FS=3.301;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.51;SOR=1.021	GT:AD:DP:GQ:PL	0/1:31,36:67:99:944,0,746	5	0	1	0
chr2	218638605	218638605	G	A	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon9:c.C4798T:p.R1600C,ZNF142:NM_001105537:exon10:c.C4798T:p.R1600C,ZNF142:NM_001366290:exon10:c.C5398T:p.R1800C,ZNF142:NM_001379662:exon10:c.C4798T:p.R1600C,ZNF142:NM_001366287:exon11:c.C4309T:p.R1437C,ZNF142:NM_001366288:exon11:c.C4309T:p.R1437C,ZNF142:NM_001366289:exon11:c.C4309T:p.R1437C,ZNF142:NM_001379659:exon11:c.C5398T:p.R1800C,ZNF142:NM_001379660:exon11:c.C5398T:p.R1800C,ZNF142:NM_001379661:exon11:c.C5398T:p.R1800C	.	424	1092	5	1	0	7	0.00319489	.	.	.	2818919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.411	.	0.0002	0.00239617	0.0012	0	0	0	0	7.534e-05	0.0011	0.0084	0.0010479	162	154602	rs373369883	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	2.237e-05	0	2.519e-05	1.872e-05	0.0010	5.037e-05	0.0004	0.0074	0.0003	0.0003	0.0001	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	2.94e-05	0	0.0085	0.004	0.65419	D	0.001	0.83351	D	0.999	0.77913	D	0.781	0.57337	P	0.000000	0.84330	D	0.048947	0.999997	0.58761	D	2.305	0.65957	M	0.09	0.61443	T	-3.17	0.64363	D	0.622	0.63713	-0.3831	0.72555	T	0.348	0.71233	T	10	0.010672778	0.00237	T	.	.	.	0.411	0.72252	.	.	0.842402792429	0.84089	0.521613542192921	0.52084	0.233078911365	0.25846	0.861405611038	0.91318	D	0.201415	0.55929	T	-0.174409	0.24570	T	-0.0184575	0.69131	D	0.152706235647202	0.17317	T	0.961304	0.85476	D	0.25715163	0.48758	0.24907261	0.50470	0.25715163	0.48758	0.24907261	0.50469	-7.19	0.55409	T	.	.	0.909	0.86689	P	.;.	.;.	5.345704	0.89680	31	0.99932409350969575	0.99439	0.98412	0.82510	D	AEFDBI	0.938976	0.93894	D	0.816083733031161	0.87103	9.103345	0.834718984950834	0.92092	11.23215	0.999360764628043	0.39301	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	7.531000	0.80869	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.515	0.99215	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1759.83	33	chr2	218638605	.	G	A	1759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=305;ExcessHet=0;FS=4.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.592;SOR=1.107	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1282	5	0	1	0
chr2	218642875	218642875	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G3641A:p.R1214Q,ZNF142:NM_001105537:exon8:c.G3641A:p.R1214Q,ZNF142:NM_001366290:exon8:c.G4241A:p.R1414Q,ZNF142:NM_001379662:exon8:c.G3641A:p.R1214Q,ZNF142:NM_001366287:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001366288:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001366289:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001379659:exon9:c.G4241A:p.R1414Q,ZNF142:NM_001379660:exon9:c.G4241A:p.R1414Q,ZNF142:NM_001379661:exon9:c.G4241A:p.R1414Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0303446699603	.	.	1.66e-05	0.0001	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs759767143	4.72e-05	4.72e-05	4.765e-05	4.675e-05	5.845e-05	3.794e-05	3.476e-05	4.699e-05	4.281e-05	0	0	0	0	0	0	5.845e-05	4.967e-05	1.159e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	6.541e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.824e-05	0	6.541e-05	0	0	0	0	4.409e-05	0	0	0.045	0.40832	D	0.161	0.31326	T	0.999	0.77913	D	0.986	0.76916	D	0.000008	0.62929	D	0.062964	0.999359	0.46766	D	-0.36	0.03115	N	0.2	0.60111	T	-1.31	0.32791	N	0.465	0.50146	-0.7714	0.56781	T	0.203	0.56045	T	10	0.36640605	0.53136	T	0.030345	0.52677	D	0.216	0.50959	0.259	0.20159	0.743021431451	0.74071	0.3292646352977007	0.32839	0.255360491483	0.28129	0.777880787849	0.78609	T	0.030506	0.21607	T	-0.079952	0.39723	T	-0.337136	0.40668	T	0.625508666038513	0.37432	D	0.950905	0.81262	D	0.19999674	0.41960	0.1658128	0.38340	0.19999674	0.41960	0.1658128	0.38339	-4.422	0.29853	T	.	.	0.847	0.79621	P	.;.	.;.	5.031074	0.83682	28.1	0.99947369079387016	0.99913	0.96080	0.67442	D	AEFBCI	0.818344	0.73962	D	0.396619607245969	0.61239	4.322279	0.437415157029933	0.63912	4.634808	0.999887340164913	0.44867	0.562547	0.31514	0	0.577304	0.33150	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.22	4.33	0.51083	4.029000	0.56964	7.726000	0.67550	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.8629:0.1371:0.0	15.716	0.77425	917	0.20147	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1124.83	36	chr2	218642875	.	C	T	1124.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.48;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.916;SOR=0.66	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1135,0,1360	5	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1293.83	35	chr2	219231956	.	A	C	1293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=258;ExcessHet=0;FS=7.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.494;SOR=1.123	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	5	0	1	0
chr2	219236056	219236056	C	T	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon10:c.C1388T:p.P463L,ANKZF1:NM_001042410:exon13:c.C2018T:p.P673L,ANKZF1:NM_018089:exon13:c.C2018T:p.P673L	.	0	225	1	0	0	1	0.00221729	.	.	.	1336927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.0255390538275	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs200850569	1.437e-05	1.436e-05	1.497e-05	1.375e-05	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.439e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.347	0.21011	T	0.001	0.07471	B	0.003	0.08700	B	0.547627	0.11470	N	0.804918	0.99999	0.08975	N	1.5	0.37844	L	-3.47	0.94546	D	-1.0	0.29323	N	0.112	0.14196	-0.1631	0.78595	T	0.648	0.87711	D	10	0.11436173	0.21515	T	0.025539	0.48504	D	0.161	0.41658	0.226	0.15109	0.895986508567	0.89496	0.20093225496585568	0.20010	0.113540832518	0.12816	0.383242756128	0.22716	T	0.004725	0.04133	T	-0.12797	0.31824	T	-0.324742	0.42052	T	0.0752637085670243	0.09371	T	0.828517	0.50694	T	0.03577678	0.04276	0.03743569	0.03395	0.03577678	0.04276	0.03743569	0.03394	-5.161	0.38543	T	.	.	0.093	0.14614	B	.;.;.	.;.;.	2.131340	0.27137	17.36	0.9197744914297995	0.21308	0.19591	0.20720	N	AEFBCI	0.103672	0.20764	N	-0.594796926995536	0.19102	0.9971107	-0.53529071933268	0.21196	1.145586	0.948469903892379	0.27801	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.52	0.39415	0.204000	0.17133	1.006000	0.23296	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.141:0.6455:0.1366:0.0769	5.662	0.16949	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2575.83	36	chr2	219236056	.	C	T	2575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.377;DP=492;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.938;SOR=0.748	GT:AD:DP:GQ:PL	0/0:165,0:165:99:0,120,1800	5	0	1	0
chr2	219299786	219299786	C	A	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199764:exon10:c.G1167T:p.K389N,PTPRN:NM_002846:exon10:c.G1437T:p.K479N	.	.	.	.	.	.	.	.	0.5728	0.724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.064e-06	7.525e-06	2.734e-06	1.385e-06	2.711e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.711e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.341	0.19246	T	0.018	0.17786	B	0.043	0.24256	B	0.000639	0.42799	D	0.150121	0.996115	0.81001	D	1.265	0.31966	L	3.78	0.03836	T	0.11	0.05706	N	0.455	0.59053	-0.9336	0.43605	T	0.011	0.03996	T	10	0.19189817	0.34895	T	0.010957	0.28083	T	0.024	0.04979	0.361	0.36548	0.347659731818	0.34379	0.3499602003332976	0.34910	0.177862269628	0.20012	0.684518575668	0.64918	T	0.14313	0.47908	T	-0.283494	0.10301	T	-0.644996	0.09309	T	0.609578549861908	0.36784	D	0.845515	0.52437	T	0.3312488	0.55573	0.16523191	0.38235	0.3312488	0.55573	0.16523191	0.38234	-5.246	0.39406	T	.	.	0.353	0.59381	A	.;.	.;.	3.637174	0.51552	23.1	0.99314868292525238	0.59166	0.80218	0.39914	D	AEFBI	0.396817	0.47314	N	-0.3740078765234	0.26399	1.440433	-0.192071604120603	0.31826	1.804843	0.990364766742167	0.32128	0.676563	0.55306	0	0.627178	0.54094	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.48	3.66	0.41111	2.166000	0.42032	2.195000	0.31239	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7744:0.0:0.2256	9.586	0.38682	142	0.94345	Protein-tyrosine phosphatase receptor IA-2 ectodomain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	540.83	37	chr2	219299786	.	C	A	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.548;DP=214;ExcessHet=0;FS=10.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.032;SOR=0.411	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1315	5	0	1	0
chr2	219329210	219329210	C	T	exonic	RESP18	.	nonsynonymous SNV	RESP18:NM_001007089:exon5:c.G508A:p.E170K	.	415	1102	4	0	1	5	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.00439297	0.0081	0	0	0	0	0.0001	0	0.0226	0.0013519	209	154602	rs183914238	0.0014	0.0013	0.0008	0.0020	0.0219	0.0014	0.0013	0.0211	0.0207	0.0001	2.801e-05	0	2.798e-05	0	0.0011	0.0001	0.0015	0.0219	0.0007	0.0008	0.0004	0.0011	0.0216	0.0006	0.0006	0.0182	0.0170	4.815e-05	0	6.542e-05	0	0	0	0	5.88e-05	0	0.0216	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.224205	0.16067	N	0.522054	1	0.08975	N	.	.	.	.	.	.	2.81	0.01297	N	0.091	0.11054	-0.9736	0.36431	T	0.011	0.03996	T	9	0.0026642084	0.00041	T	.	.	.	0.058	0.16647	0.314	0.28935	0.0138822411134	0.00435	0.0434148248986803	0.04286	.	.	0.286160767078	0.08366	T	.	.	.	-0.581014	0.00190	T	-0.590443	0.13627	T	0.00505000751167185	0.00054	T	0.383762	0.09387	T	0.03423236	0.03801	0.04557807	0.06165	0.03423236	0.03800	0.04557807	0.06165	-3.366	0.15490	T	.	.	0.056	0.00505	B	.;.	.;.	0.972154	0.13494	10.01	0.09849512384144897	0.00110	0.00483	0.02300	N	AEFBI	0.025444	0.01743	N	-1.26428118227562	0.04114	0.1850644	-1.04109978934019	0.08893	0.4395568	0.00500837972676864	0.10793	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.65	3.49	0.39065	1.205000	0.31914	0.574000	0.19636	-0.117000	0.14459	0.782000	0.29497	0.006000	0.19429	0.360000	0.25886	0.0:0.1005:0.0:0.8995	7.299	0.25581	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001116	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	739.83	35	chr2	219329210	.	C	T	739.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.774;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.025;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	5	0	1	0
chr2	219571114	219571114	G	C	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon1:c.C119G:p.P40R,OBSL1:NM_001173431:exon1:c.C119G:p.P40R,OBSL1:NM_015311:exon1:c.C119G:p.P40R	3-M syndrome 2	2	1516	4	0	0	4	0.00131752	.	.	.	190545	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0062	0.00898562	0.0061	0.1283	0.0062	0	0	0.0007	0	0.0002	0.0015588	241	154602	rs191256186	0.0009	0.0009	0.0010	0.0008	0.0334	0.0008	0.0008	0.0316	0.0308	0.0334	0.0014	0	0	0	0.0037	3.912e-05	0.0026	0.0002	0.0089	0.0088	0.0088	0.0090	0.0304	0.0085	0.0083	0.0291	0.0285	0.0304	0	0.0037	0	0	0	0.0034	8.839e-05	0.0085	0	1.0	0.02981	T	0.939	0.03921	T	0.998	0.73220	D	0.951	0.68939	D	.	.	.	.	1	0.20991	N	0.095	0.08423	N	-0.25	0.67011	T	0.58	0.02598	N	0.375	0.41656	-1.0080	0.27541	T	0.071	0.28936	T	8	0.006937504	0.00158	T	.	.	.	0.136	0.36778	.	.	0.735208223782	0.73285	0.19937589396391597	0.19854	1.38266898386	0.84814	0.902172088623	0.96678	D	0.012941	0.11287	T	-0.414454	0.01857	T	-0.345799	0.39685	T	0.019541290595098	0.00658	T	0.80002	0.45098	T	0.08974253	0.20977	0.07846849	0.17579	0.10704748	0.25313	0.08851186	0.20641	-4.451	0.30744	T	.	.	0.097	0.35705	B	.;.;.;.	.;.;.;.	2.023078	0.25711	16.86	0.66209961794661421	0.07992	0.05771	0.11703	N	ALL	0.050392	0.08802	N	-0.505460899654113	0.21903	1.165792	-0.518417543898421	0.21654	1.172381	0.999999934977854	0.74766	0.733237	0.96898	0	0.59043	0.45803	0	0.600757	0.32118	0	0.603991	0.37454	0	.	.	3.63	2.74	0.31352	1.132000	0.31031	6.139000	0.54026	0.551000	0.28136	0.043000	0.21118	1.000000	0.68203	0.009000	0.08673	0.108:0.2693:0.4542:0.1685	2.589	0.04544	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;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007150	0.005319	0.015027	0.005952	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	37	chr2	219571114	.	G	C	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=278;ExcessHet=0;FS=2.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.068;SOR=1.041	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	5	0	1	0
chr2	219632077	219632079	GAA	-	exonic	SLC4A3	.	nonframeshift deletion	SLC4A3:NM_001326559:exon7:c.1002_1004del:p.K340del,SLC4A3:NM_005070:exon7:c.921_923del:p.K313del,SLC4A3:NM_201574:exon7:c.1002_1004del:p.K340del	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0109	0.000998403	0.0006	0.0001	0.0011	0.0001	0	0.0007	0.0022	0.0006	0.0001537	4	26028	rs557843124	0.0003	0.0004	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0006	0.0065	0.0001	0	0.0023	0.0001	0.0010	0.0001	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	4.813e-05	0	0.0016	0.0066	0	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010585	0.005102	0.008152	0.017544	0.000000	0.025862	0.015244	0.007576	0.1667	3327.01	75	chr2	219632076	.	GGAA	G	3327.01	.	AC=2;AF=0.167;AN=12;DP=273;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.4;SOR=1.24	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1222	5	1	0	0
chr2	221455601	221455601	G	A	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon7:c.C1508T:p.S503L,EPHA4:NM_001363748:exon8:c.C1661T:p.S554L,EPHA4:NM_004438:exon8:c.C1661T:p.S554L,EPHA4:NM_001304536:exon9:c.C1661T:p.S554L	.	.	.	.	.	.	.	.	.	.	.	1926831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.00761668283233	.	.	9.95e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs768964879	9.373e-05	9.371e-05	9.666e-05	9.077e-05	8.946e-05	8.093e-05	7.585e-05	2.985e-05	1.804e-05	5.976e-05	8.946e-05	0.0031	0	0	0	2.878e-05	0.0003	0	9.858e-05	0.0001	6.424e-05	0.0001	0.0003	6.007e-05	4.881e-05	8.881e-05	5.389e-05	0	0	0.0003	0.0017	0	0	0	5.879e-05	0.0005	0	0.044	0.41096	D	0.28	0.21678	T	0.007	0.14184	B	0.005	0.11217	B	0.001205	0.39820	N	0.246616	0.99608	0.43008	D	0.78	0.19475	N	3.0	0.09167	T	-1.31	0.34198	N	0.469	0.50508	-0.9726	0.36648	T	0.022	0.09193	T	10	0.033327162	0.01506	T	0.007617	0.20219	T	0.098	0.28162	.	.	0.250512400709	0.24649	0.585248858980283	0.58454	0.516649995381	0.49549	0.711780011654	0.68851	T	0.074854	0.35037	T	-0.253728	0.13645	T	-0.426393	0.30345	T	0.079867363218681	0.09969	T	0.909809	0.68064	D	0.15245137	0.34607	0.12777475	0.30753	0.15245137	0.34606	0.12777475	0.30752	-2.944	0.09590	T	0.12536536274283147	0.12455	0.117	0.28863	B	.;.;.	.;.;.	4.312865	0.65945	24.9	0.99798649920601745	0.88372	0.91443	0.53544	D	AEFBCI	0.760673	0.69862	D	0.00550585904806425	0.42104	2.530729	0.249199446670954	0.52603	3.434171	0.999995182709147	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	7.254000	0.77751	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	20.354	0.98826	900	0.24599	Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	2519.83	33	chr2	221455601	.	G	A	2519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.421;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.55;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1560	5	0	1	0
chr2	227332589	227332589	G	A	splicing	MFF	NM_001277062:exon4:c.351+1G>A;NM_001277061:exon5:c.429+1G>A;NM_001277063:exon4:c.351+1G>A;NM_001277066:exon3:c.351+1G>A;NM_001277065:exon4:c.351+1G>A;NM_001277064:exon4:c.351+1G>A;NM_020194:exon5:c.429+1G>A;NM_001277068:exon3:c.351+1G>A;NM_001277067:exon4:c.201+1G>A	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	423	1090	7	0	2	9	0.00320073	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866884233	0.0007	0.0016	0.0006	0.0008	0.0039	0.0007	0.0006	0.0033	0.0031	0.0039	0.0007	0.0022	0.0004	0.0008	0.0017	0.0005	0.0011	0.0017	0.0001	0.0022	0.0001	0.0001	0.0003	6.563e-05	5.32e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	3.069e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	6.971035	0.95980	35	0.99542279205671724	0.70586	0.99758	0.99249	D	AEFBI	.	.	.	1.15380122733624	0.99012	20.26834	0.989360123344271	0.98410	18.20422	0.999999999885004	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.109871	0.03346	0	0.982612	0.88967	4.78	4.78	0.60666	7.139000	0.76905	9.911000	0.82427	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.164	0.89650	926	0.17793	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	164.7	35	chr2	227332589	.	G	A	164.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.841;DP=273;ExcessHet=0;FS=8.425;MLEAC=1;MLEAF=0.1;MQ=58.62;MQRankSum=-4.996;QD=2.61;ReadPosRankSum=-3.194;SOR=2.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	4	0	1	1
chr2	227332590	227332590	-	CCG	splicing	MFF	NM_001277062:exon4:c.351+2->CCG;NM_001277061:exon5:c.429+2->CCG;NM_001277063:exon4:c.351+2->CCG;NM_001277066:exon3:c.351+2->CCG;NM_001277065:exon4:c.351+2->CCG;NM_001277064:exon4:c.351+2->CCG;NM_020194:exon5:c.429+2->CCG;NM_001277068:exon3:c.351+2->CCG;NM_001277067:exon4:c.201+2->CCG	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	421	1091	6	0	4	10	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0016	0.0006	0.0007	0.0033	0.0006	0.0006	0.0028	0.0026	0.0033	0.0007	0.0020	0.0004	0.0007	0.0016	0.0004	0.0009	0.0015	7.93e-05	0.0020	7.757e-05	8.11e-05	0.0002	4.52e-05	3.531e-05	0.0001	8.539e-05	0.0002	0	6.559e-05	0	0	0	0	1.474e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	163.79	35	chr2	227332590	.	T	TCCG	163.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=272;ExcessHet=0;FS=8.425;MLEAC=1;MLEAF=0.083;MQ=58.62;MQRankSum=-4.996;QD=2.6;ReadPosRankSum=-2.502;SOR=2.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.08333	783.83	35	chr2	227363746	.	T	G	783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.524;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.36;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	5	0	1	0
chr2	227533602	227533602	A	C	exonic	AGFG1	.	nonsynonymous SNV	AGFG1:NM_001135189:exon6:c.A748C:p.K250Q,AGFG1:NM_001135188:exon7:c.A868C:p.K290Q,AGFG1:NM_004504:exon7:c.A868C:p.K290Q,AGFG1:NM_001135187:exon8:c.A940C:p.K314Q	.	.	.	.	.	.	.	.	.	.	.	3431545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0492670643805	.	0.000199681	6.606e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs564585540	1.642e-05	1.642e-05	1.362e-05	1.926e-05	0.0002	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.969e-05	0.0002	6.566e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.1	0.55530	T	0.589	0.19480	T	0.99	0.73220	D	0.723	0.65999	P	0.000000	0.84330	D	0.000000	0.999979	0.58761	D	2.215	0.62545	M	1.75	0.26152	T	-1.23	0.32185	N	0.55	0.58458	-1.0394	0.17495	T	0.118	0.41473	T	10	0.12129569	0.22992	T	0.049267	0.63737	D	0.200	0.48430	0.179	0.08626	0.389052329274	0.38518	0.6664323571056183	0.66581	0.604580935756	0.55391	0.625494122505	0.56506	T	0.369262	0.73401	T	-0.198307	0.21050	T	-0.194671	0.55151	T	0.205484867095947	0.20715	T	0.909809	0.93712	D	0.43427932	0.63031	0.23411755	0.48620	0.43427932	0.63032	0.23411755	0.48619	-2.421	0.05263	T	.	.	0.400	0.65994	A	.;.;.;.;.;.	.;.;.;.;.;.	4.794133	0.77832	26.8	0.99338434746208149	0.60091	0.98712	0.85893	D	AEFGBI	0.918514	0.88768	D	0.548767258174107	0.70008	5.438716	0.5685179038714	0.72696	5.850607	0.999999979383592	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	8.327000	0.89925	11.260000	0.91045	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.953	0.70738	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	885.83	35	chr2	227533602	.	A	C	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.185;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.212;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	5	0	1	0
chr2	228018327	228018327	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A2527G:p.T843A,SPHKAP:NM_030623:exon7:c.A2527G:p.T843A	.	431	1087	4	0	0	4	0.00183655	.	.	.	2203819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00535617654668	0.0007	0.00119808	0.0003	0.0026	0.0003	0	0	0.0001	0.0011	0	0.0002975	46	154602	rs116336001	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0002	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	0.236	0.17940	T	0.638	0.07015	T	0.006	0.30509	B	0.003	0.25678	B	0.523733	0.05217	N	1.258400	1	0.08975	N	2.005	0.54552	M	2.77	0.11407	T	-0.65	0.18877	N	0.036	0.01068	-0.9503	0.40920	T	0.017	0.07045	T	10	0.0055871904	0.00124	T	0.005356	0.13710	T	0.072	0.21020	.	.	0.0551355673512	0.04727	0.15629299230890478	0.15550	0.0474470074149	0.05180	0.201719194651	0.00508	T	0.009402	0.08559	T	-0.732911	0.00023	T	-0.83172	0.01232	T	0.012495382636157	0.00206	T	0.378562	0.09103	T	0.029682772	0.02503	0.027262475	0.00867	0.029682772	0.02502	0.027262475	0.00867	-3.716	0.19747	T	.	.	0.079	0.07507	B	.;.	.;.	-0.212764	0.03027	0.462	0.61874994199451194	0.06819	0.02339	0.06686	N	AEFGBI	0.089959	0.18232	N	-1.14504893020537	0.05862	0.2683405	-1.2610725027196	0.04969	0.2356952	0.0804147228879693	0.15845	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.97	-8.31	0.00877	-0.364000	0.07635	-0.687000	0.07858	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.355000	0.25773	0.2427:0.1837:0.2581:0.3154	0.326	0.00290	869	0.31655	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1135.83	33	chr2	228018327	.	T	C	1135.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.893;DP=480;ExcessHet=0;FS=9.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-2.248;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	5	0	1	0
chr2	228018548	228018548	G	A	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.C2306T:p.S769F,SPHKAP:NM_030623:exon7:c.C2306T:p.S769F	.	.	.	.	.	.	.	.	.	.	.	2203611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0175301068353	0.0002	.	7.429e-05	0.0007	0	0	0	3.001e-05	0	0	5.82e-05	9	154602	rs144775838	4.994e-05	5.062e-05	5.309e-05	4.676e-05	0.0011	4.059e-05	3.734e-05	0.0008	0.0007	0.0011	4.473e-05	0	0	0	0.0007	1.799e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	7.348e-05	0	0	0.015	0.52492	D	0.002	0.79402	D	0.868	0.62824	P	0.325	0.64797	B	0.069099	0.21628	N	0.509118	1	0.08975	N	2.455	0.71248	M	2.41	0.15492	T	-2.04	0.47008	N	0.233	0.26233	-1.0629	0.11045	T	0.089	0.34271	T	10	0.086158454	0.14618	T	0.01753	0.39265	T	0.084	0.24469	.	.	0.223146558224	0.21909	0.46883755365504876	0.46802	0.287958756199	0.31194	0.251787394285	0.03958	T	0.079917	0.36241	T	-0.481479	0.00725	T	-0.557123	0.16649	T	0.0533343800866062	0.06076	T	0.792521	0.43410	T	0.10686783	0.25270	0.13155611	0.31587	0.10686783	0.25270	0.13155611	0.31586	-4.988	0.36775	T	.	.	0.102	0.25560	B	.;.	.;.	3.023214	0.40473	21.2	0.99681457248607097	0.79307	0.77995	0.38417	D	AEFBCIJ	0.470875	0.51665	N	0.180266646289969	0.50251	3.217047	0.0865378761624382	0.43868	2.679887	0.00165320913585723	0.08750	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.67	4.78	0.60666	2.808000	0.47660	3.304000	0.37407	0.676000	0.76740	0.407000	0.26226	0.742000	0.26489	0.153000	0.20410	0.0:0.1407:0.7132:0.1461	10.950	0.46536	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1369.83	33	chr2	228018548	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.994;DP=473;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.323;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	5	0	1	0
chr2	228018867	228018867	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.G1987A:p.V663I,SPHKAP:NM_030623:exon7:c.G1987A:p.V663I	.	429	1080	10	2	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00295187338938	0.0016	0.000599042	0.0017	0.0004	0.0006	0	0	0.0027	0.0011	0.0007	0.0015718	243	154602	rs115375305	0.0016	0.0016	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0003	0.0006	0.0181	0.0002	7.488e-05	0.0085	0.0014	0.0025	0.0012	0.0017	0.0018	0.0020	0.0015	0.0023	0.0016	0.0015	0.0015	0.0014	0.0002	0.0440	0.0009	0.0185	0	9.423e-05	0.0102	0.0018	0.0028	0.0023	0.477	0.08787	T	0.463	0.12668	T	0.0	0.09854	B	0.0	0.04355	B	0.455005	0.04836	N	1.286100	1	0.08975	N	-0.69	0.01958	N	0.99	0.41750	T	-0.01	0.07155	N	0.033	0.01740	-1.0381	0.17893	T	0.040	0.17020	T	10	0.0031555295	0.00053	T	0.002952	0.06280	T	0.042	0.11227	.	.	0.0482279557977	0.04254	0.07047903892941995	0.06984	0.0414775288599	0.04451	0.273816943169	0.06645	T	0.00858	0.07868	T	-0.6872	0.00043	T	-0.767156	0.02863	T	0.00361392054005881	0.00038	T	0.112789	0.00855	T	0.019902766	0.00531	0.02561494	0.00613	0.019902766	0.00531	0.02561494	0.00613	-3.225	0.12926	T	.	.	0.081	0.08609	B	.;.	.;.	1.256237	0.16537	12.60	0.90968524197328204	0.20218	0.05613	0.11520	N	AEFBI	0.048405	0.08256	N	-1.09134845170511	0.06801	0.3141479	-0.982530000252836	0.10178	0.5109501	2.29836144102018E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	1.254000	0.32500	2.991000	0.35881	-0.107000	0.15377	0.001000	0.13787	0.264000	0.24003	0.994000	0.71098	0.2196:0.2342:0.2807:0.2655	0.462	0.00483	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.012195	0.000000	0.08333	2344.83	33	chr2	228018867	.	C	T	2344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.28;DP=560;ExcessHet=0;FS=2.52;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.37;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	5	0	1	0
chr2	228019260	228019260	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A1594G:p.S532G,SPHKAP:NM_030623:exon7:c.A1594G:p.S532G	.	426	1092	4	0	0	4	0.00182815	.	.	.	2196961	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.113	0.00234777443712	0.0007	0.00119808	0.0003	0.0027	0.0003	0	0	0.0001	0.0011	0	0.0002975	46	154602	rs145506918	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0002	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0009	0.0003	0	0	0.0034	0.0001	0.0005	0	1.0	0.00964	T	0.565	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	0.020916	0.26940	N	0.404640	1	0.08975	N	-2.545	0.00050	N	1.15	0.38236	T	0.42	0.03352	N	0.036	0.01421	-0.9891	0.32828	T	0.018	0.07423	T	10	0.0070701838	0.00161	T	0.002348	0.04562	T	0.113	0.31778	.	.	0.0297737177859	0.01360	0.23071836904240606	0.22986	0.0449657173132	0.04864	0.256071537733	0.04435	T	0.008898	0.08136	T	-0.681812	0.00047	T	-0.758319	0.03173	T	0.0102769698062548	0.00140	T	0.221278	0.02853	T	0.034199785	0.03792	0.046610128	0.06534	0.034199785	0.03791	0.046610128	0.06533	-4.389	0.29665	T	.	.	0.051	0.00234	B	.;.	.;.	0.686317	0.10548	7.258	0.1384551277648331	0.00286	0.00139	0.00851	N	AEFBI	0.056662	0.10492	N	-1.37786831290376	0.02846	0.1262685	-1.18044843873954	0.06237	0.2995748	0.00270502522615735	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	5.15	0.70287	1.459000	0.34844	1.141000	0.24405	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.005000	0.06747	0.0:0.8531:0.0:0.1469	10.593	0.44513	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1711.83	33	chr2	228019260	.	T	C	1711.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=341;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.62;SOR=0.598	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	228019934	228019934	T	G	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A920C:p.Q307P,SPHKAP:NM_030623:exon7:c.A920C:p.Q307P	.	424	1095	3	0	0	3	0.00136799	.	.	.	3323180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00779260879063	0.0007	0.00119808	0.0003	0.0026	0.0003	0	0	0.0001	0.0011	0	0.000304	47	154602	rs139197816	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0004	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	0.125	0.27310	T	0.274	0.22084	T	0.497	0.37095	P	0.091	0.36167	B	0.023138	0.01586	N	1.959970	1	0.08975	N	1.39	0.34934	L	2.71	0.12055	T	-1.18	0.30140	N	0.283	0.32037	-1.0307	0.20227	T	0.018	0.07612	T	10	0.008254409	0.00187	T	0.007793	0.20668	T	0.055	0.15663	.	.	0.0611884634855	0.05136	0.19586846657024923	0.19503	0.0547988209984	0.06069	0.175694972277	0.00061	T	0.009279	0.08456	T	-0.563118	0.00243	T	-0.587823	0.13854	T	0.00862761548024706	0.00105	T	0.342966	0.07460	T	0.12216923	0.28713	0.0900159	0.21085	0.12216923	0.28713	0.0900159	0.21085	-3.05	0.10730	T	.	.	0.068	0.06159	B	.;.	.;.	-0.257448	0.02810	0.387	0.63463491008326534	0.07230	0.07865	0.13857	N	AEFBI	0.268492	0.38497	N	-1.07043939293684	0.07193	0.3333894	-1.21175844012706	0.05720	0.273353	6.80794350154448E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	-6.66	0.01624	-0.518000	0.06353	-1.346000	0.05659	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2204:0.3346:0.2064:0.2385	1.213	0.01792	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1421.83	33	chr2	228019934	.	T	G	1421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.566;DP=331;ExcessHet=0;FS=5.244;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.386;SOR=0.678	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	228020156	228020156	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A698G:p.D233G,SPHKAP:NM_030623:exon7:c.A698G:p.D233G	.	432	1086	4	0	0	4	0.00183824	0.0001	0.002	.	2196806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0007	0.00119808	0.0003	0.0028	0.0003	0	0	0.0001	0.0012	0	0.0002975	46	154602	rs140596863	0.0001	0.0001	0.0001	0.0002	0.0027	0.0001	0.0001	0.0022	0.0021	0.0027	0.0003	0.0005	0	0	0.0020	4.721e-05	0.0006	2.474e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000007	0.62929	N	0.108387	0.999979	0.18612	N	-2.32	0.00092	N	2.86	0.10482	T	1.12	0.01197	N	0.162	0.17691	-0.9585	0.39461	T	0.007	0.02282	T	10	0.005243987	0.00114	T	0.011341	0.28865	T	0.159	0.41286	.	.	0.0401082797425	0.02173	0.2495699099371592	0.24870	0.0578692746396	0.06410	0.435558229685	0.29970	T	0.014046	0.12031	T	-0.622073	0.00107	T	-0.672509	0.07448	T	0.00660088049205696	0.00074	T	0.310869	0.06046	T	0.053784367	0.10227	0.11597063	0.27997	0.053784367	0.10227	0.11597063	0.27996	-3.724	0.19673	T	.	.	0.042	0.00075	B	.;.	.;.	1.917211	0.24347	16.36	0.14797362380163023	0.00339	0.01604	0.05200	N	AEFBI	0.034645	0.04329	N	-0.833055150668539	0.12471	0.6080851	-0.522851076288124	0.21533	1.165337	1.47432080266003E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	2.663000	0.46440	2.633000	0.33705	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:0.777:0.1445:0.0785	9.239	0.36645	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	476.83	33	chr2	228020156	.	T	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.19;DP=200;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.521;SOR=1.688	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	5	0	1	0
chr2	229586007	229586007	G	A	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon4:c.C698T:p.T233I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0448550923597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.002	0.79402	D	0.437	0.35811	B	0.157	0.34536	B	0.006311	0.32122	N	0.370962	0.693139	0.30172	N	0.695	0.17993	N	-1.96	0.85091	D	-1.94	0.45042	N	0.347	0.38848	-0.3326	0.74058	T	0.400	0.75130	T	10	0.2869131	0.46274	T	0.044855	0.61695	D	0.160	0.41473	0.422	0.46529	0.409337501531	0.40548	0.5144449475768391	0.51366	0.145777314814	0.16458	0.398365259171	0.24841	T	0.353675	0.72093	T	-0.0376353	0.46298	T	-0.291837	0.45580	T	0.448977142572403	0.30760	T	0.670133	0.27879	T	0.07296631	0.16272	0.09190256	0.21632	0.07296631	0.16271	0.09190256	0.21632	-7.161	0.55201	T	.	.	0.182	0.39613	B	.	.	3.385662	0.46848	22.4	0.99211030508649889	0.55594	0.76271	0.37394	D	AEFDBHCI	0.298952	0.40813	N	-0.232254226749593	0.31817	1.787936	-0.154852545795749	0.33222	1.898157	0.999999996512362	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.54	4.64	0.57399	3.526000	0.53265	8.275000	0.76894	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.8601:0.1399	15.447	0.74970	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	540.83	34	chr2	229586007	.	G	A	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.331;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.94;SOR=0.569	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr2	230212800	230212800	G	A	exonic	SP110	.	nonsynonymous SNV	SP110:NM_001378443:exon4:c.C544T:p.P182S,SP110:NM_001378447:exon4:c.C544T:p.P182S,SP110:NM_004509:exon4:c.C544T:p.P182S,SP110:NM_004510:exon4:c.C544T:p.P182S,SP110:NM_080424:exon4:c.C544T:p.P182S,SP110:NM_001185015:exon5:c.C562T:p.P188S,SP110:NM_001378442:exon5:c.C562T:p.P188S,SP110:NM_001378444:exon5:c.C562T:p.P188S,SP110:NM_001378445:exon5:c.C562T:p.P188S,SP110:NM_001378446:exon5:c.C562T:p.P188S	Hepatic venoocclusive disease with immunodeficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	629535	Hepatic_veno-occlusive_disease-immunodeficiency_syndrome	MONDO:MONDO:0009338,MedGen:C1856128,OMIM:235550,Orphanet:79124	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.00310872859958	7.7e-05	0.000199681	0.0004	0	8.637e-05	0	0	0.0002	0.0011	0.0018	0.0002846	44	154602	rs199978387	0.0001	0.0001	9.529e-05	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0	0	0.0006	2.519e-05	0	0.0033	3.237e-05	0.0002	0.0013	0.0001	0.0001	5.14e-05	0.0002	0.0012	6.507e-05	5.319e-05	0.0005	0.0004	0	0	6.539e-05	0.0012	0	0	0.0068	4.41e-05	0	0.0012	0.224	0.41364	T	0.914	0.31833	T	0.079	0.24468	B	0.032	0.22131	B	0.778992	0.09486	N	0.866119	1	0.08975	N	0.665	0.16292	N	3.07	0.08547	T	-1.25	0.36787	N	0.083	0.05929	-0.9192	0.45662	T	0.015	0.05994	T	10	0.012287229	0.00265	T	0.003109	0.06756	T	0.058	0.16647	.	.	0.410734915765	0.40690	0.1577991028060879	0.15700	0.485768874065	0.47451	0.231344670057	0.02069	T	0.00167	0.11459	T	-0.543108	0.00321	T	-0.577541	0.14766	T	0.00799211539779245	0.00094	T	0.608739	0.24174	T	0.038789034	0.05234	0.04558744	0.06169	0.038789034	0.05234	0.04558744	0.06168	-3.503	0.16741	T	.	.	0.105	0.19438	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.325301	0.06995	3.551	0.6920890838902336	0.08899	0.03313	0.08377	N	AEFDBCI	0.036317	0.04819	N	-1.1927765130691	0.05109	0.2321141	-1.2551623546001	0.05054	0.2399631	0.980831820881429	0.30182	0.67177	0.52595	0	0.702456	0.74545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.97	-0.00827	0.13329	-0.884000	0.04273	-0.301000	0.10115	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.261:0.2509:0.3384:0.1497	0.900	0.01192	859	0.33891	.;.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1113.83	34	chr2	230212800	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.205;DP=245;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.827;SOR=1.067	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1412	5	0	1	0
chr2	231085055	231085055	G	T	exonic	PSMD1	.	nonsynonymous SNV	PSMD1:NM_001191037:exon15:c.G1759T:p.A587S,PSMD1:NM_002807:exon15:c.G1759T:p.A587S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0223409710435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40832	D	0.104	0.47828	T	0.101	0.25775	B	0.187	0.36167	B	0.000000	0.84330	D	0.044822	1	0.81001	D	2.5	0.72771	M	1.56	0.29602	T	-2.15	0.48687	N	0.67	0.70439	0.090	0.83989	D	0.555	0.83761	D	10	0.7331447	0.74437	D	0.022341	0.45218	T	0.375	0.69358	0.724	0.85850	0.544022383524	0.54055	0.6450851880323211	0.64443	0.936043945633	0.72019	0.837375223637	0.87694	D	0.196941	0.55347	T	-0.0312758	0.47232	T	-0.282702	0.46526	T	0.790459967418065	0.45720	D	0.981102	0.93484	D	0.5161713	0.68039	0.2970641	0.55739	0.5161713	0.68040	0.2970641	0.55739	-7.479	0.58262	T	.	.	0.193	0.41249	B	.;.;.;.	.;.;.;.	3.986201	0.58638	24.0	0.99770727788100033	0.85918	0.99633	0.98183	D	AEFBI	0.953675	0.97017	D	0.724494557147827	0.81237	7.475573	0.784650224722388	0.88707	9.683898	0.999999999999927	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	10.003000	0.99689	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.640	0.99540	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1107.83	38	chr2	231085055	.	G	T	1107.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.854;DP=264;ExcessHet=0;FS=1.766;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.24;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	5	0	1	0
chr2	231108810	231108810	T	C	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.A1153G:p.K385E,HTR2B:NM_001320758:exon4:c.A1027G:p.K343E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0170783847088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.014	0.62352	D	0.995	0.67487	D	0.912	0.64797	D	0.000000	0.84330	D	0.042931	0.999756	0.81001	D	2.65	0.77586	M	0.93	0.44065	T	-3.21	0.64826	D	0.784	0.78072	-0.7718	0.56759	T	0.235	0.60185	T	10	0.85131556	0.84310	D	0.017078	0.38630	T	0.308	0.62947	0.59	0.71874	0.909381559483	0.90847	0.709952888464839	0.70937	0.617258065873	0.56168	0.689675867558	0.65659	T	0.407365	0.76300	T	0.0862989	0.62771	D	-0.113814	0.62306	T	0.980669558048248	0.73482	D	0.924308	0.72323	D	0.78621614	0.83038	0.7447187	0.84911	0.78621614	0.83040	0.7447187	0.84911	-10.859	0.78878	D	.	.	0.282	0.51515	B	.	.	4.939269	0.81495	27.6	0.99896864386666906	0.96971	0.97727	0.76697	D	AEFBI	0.789909	0.71896	D	0.687816212917681	0.78835	6.952092	0.696330372305737	0.82098	7.684103	0.999999944971459	0.74766	0.498214	0.20090	0	0.546412	0.12157	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	6.167000	0.71757	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.329	0.82833	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1068.83	35	chr2	231108810	.	T	C	1068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=264;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.2;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	5	0	1	0
chr2	231214829	231214829	A	C	splicing	ARMC9	NM_001271466:exon4:c.178-2A>C;NM_001352757:exon4:c.178-2A>C;NM_001352756:exon4:c.178-2A>C;NM_025139:exon4:c.178-2A>C;NM_001352759:exon4:c.178-2A>C;NM_001352758:exon4:c.178-2A>C;NM_001352755:exon4:c.178-2A>C;NM_001291656:exon4:c.178-2A>C;NM_001352754:exon4:c.178-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.918	YES	1314209	Joubert_syndrome_30|not_provided	MONDO:MONDO:0033308,MedGen:C4539937,OMIM:617622|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248147660	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21051	0.74878	D	0.165236	0.81124	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.050041	0.84110	28.2	0.9941196187467688	0.63310	0.96567	0.69787	D	AEFDGBCI	.	.	.	1.14020573753138	0.98813	19.47119	1.00156156981382	0.98658	18.93772	0.999999998037166	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.089874	0.02613	0	0.976313	0.79516	5.81	5.81	0.92413	7.260000	0.77799	10.900000	0.84134	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9291:0.0:0.0709:0.0	11.228	0.48124	946	0.12043	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	760.83	35	chr2	231214829	.	A	C	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=209;ExcessHet=0;FS=1.435;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.473;SOR=1.209	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	5	0	1	0
chr2	231460695	231460697	TCA	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.783_785del:p.D261del	.	417	1092	12	1	0	14	0.00636943	.	.	.	2819032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0147	0.00539137	0.0059	0.0056	0.0041	0.0019	0.0008	0.0074	0.0033	0.0055	0.0005379	14	26028	rs556842200	0.0072	0.0072	0.0072	0.0072	0.0080	0.0071	0.0070	0.0078	0.0077	0.0051	0.0040	0.0120	0.0016	0.0017	0.0080	0.0079	0.0066	0.0058	0.0059	0.0058	0.0061	0.0056	0.0078	0.0055	0.0054	0.0073	0.0070	0.0042	0	0.0042	0.0131	0.0018	0.0015	0.0347	0.0078	0.0063	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006218	0.015152	0.001359	0.013986	0.000000	0.000000	0.012195	0.000000	0.1667	4497.01	102	chr2	231460694	.	CTCA	C	4497.01	.	AC=2;AF=0.167;AN=12;DP=300;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.87;SOR=1.212	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1417	5	1	0	0
chr2	231798936	231798936	A	G	exonic	COPS7B	.	nonsynonymous SNV	COPS7B:NM_001282951:exon4:c.A443G:p.N148S,COPS7B:NM_001282949:exon5:c.A506G:p.N169S,COPS7B:NM_001282952:exon5:c.A287G:p.N96S,COPS7B:NM_001282950:exon6:c.A608G:p.N203S,COPS7B:NM_001308381:exon6:c.A608G:p.N203S,COPS7B:NM_001369483:exon6:c.A608G:p.N203S,COPS7B:NM_022730:exon6:c.A608G:p.N203S	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0015	0.00419329	0.0052	0.0005	0.0009	0.0001	0.0281	0.0033	0.0045	0.0119	0.0045278	700	154602	rs138197524	0.0035	0.0036	0.0032	0.0039	0.0119	0.0035	0.0034	0.0113	0.0111	0.0005	0.0006	0.0025	5.038e-05	0.0230	0.0043	0.0023	0.0032	0.0119	0.0039	0.0039	0.0027	0.0051	0.0112	0.0036	0.0035	0.0088	0.0079	0.0006	0	0.0005	0.0023	0	0.0294	0.0034	0.0025	0.0028	0.0112	0.218	0.21144	T	0.276	0.36901	T	0.0	0.02946	B	0.0	0.04355	B	0.112538	0.19353	N	0.548535	0.999931	0.20771	N	1.04	0.26193	L	1.23	0.41392	T	0.62	0.03521	N	0.058	0.05799	-1.0558	0.12829	T	0.028	0.12014	T	10	0.0056744814	0.00126	T	.	.	.	0.079	0.23065	.	.	0.216624796971	0.21254	0.0970219366795166	0.09633	0.27085037371	0.29608	0.277084738016	0.07089	T	0.008562	0.07851	T	-0.672686	0.00053	T	-0.728655	0.04389	T	0.0169025834154632	0.00442	T	0.864914	0.59457	D	0.03438851	0.03849	0.051251248	0.08211	0.03438851	0.03849	0.051251248	0.08210	-2.854	0.11434	T	.	.	0.053	0.04041	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.993137	0.25321	16.72	0.96975170381876774	0.31835	0.78073	0.38466	D	AEFDBI	0.145010	0.26812	N	-0.594315532602198	0.19115	0.9979814	-0.429625710218201	0.24133	1.319808	0.0712516298131447	0.15560	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	0.204	0.14476	1.726000	0.37706	5.378000	0.48447	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.353:0.2855:0.2202:0.1412	0.973	0.01330	917	0.20147	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.1667	2355.04	37	chr2	231798936	.	A	G	2355.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.82;SOR=0.927	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1364	5	1	0	0
chr2	232407089	232407089	C	G	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon2:c.C100G:p.Q34E	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0185	0.0118	0.0080	0.0423	0.0379	0.0176	0.0264	0.0133	0.0001423	22	154602	rs146369944	0.0020	0.0031	0.0021	0.0020	0.0060	0.0020	0.0020	0.0044	0.0039	0.0015	0.0008	7.681e-05	0.0008	0.0260	0.0060	0.0011	0.0024	0.0010	0.0034	0.0035	0.0024	0.0045	0.0023	0.0032	0.0031	0.0020	0.0019	0.0010	0	0.0005	0	0.0014	0.0272	0.0068	0.0023	0.0024	0.0017	0.206	0.19927	T	0.604	0.07842	T	0.024	0.19075	B	0.01	0.14941	B	0.067388	0.21744	N	0.518247	1	0.08975	N	2.255	0.64187	M	1.2	0.37405	T	-1.59	0.38345	N	0.182	0.19728	-0.9989	0.30227	T	0.087	0.33662	T	10	0.010338604	0.00230	T	.	.	.	0.027	0.05988	.	.	.	.	0.8038667715211593	0.80340	0.165376590012	0.18654	0.414885997772	0.27132	T	0.057159	0.30489	T	-0.590284	0.00167	T	-0.621835	0.11042	T	0.0116233311594767	0.00177	T	0.0672933	0.00489	T	0.060269307	0.12347	0.052819178	0.08778	0.060269307	0.12346	0.052819178	0.08778	-7.742	0.59299	D	.	.	0.096	0.15296	B	.	.	0.535574	0.09040	5.825	0.20155188850739872	0.00712	0.07167	0.13193	N	AEFDBCI	0.084601	0.17147	N	-0.942842410891978	0.09854	0.4682348	-1.10739888169491	0.07557	0.3680996	0.123914479892608	0.16946	0.729952	0.87565	0	0.610034	0.51514	0	0.877121	0.99996	0	0.613276	0.41899	0	.	.	2.19	-0.276	0.12264	-0.634000	0.05575	1.500000	0.26949	-0.573000	0.04775	0.000000	0.06391	0.604000	0.25734	0.021000	0.11733	0.2975:0.4607:0.1215:0.1203	2.424	0.04183	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.049849	0.065657	0.051630	0.008772	0.050000	0.060345	0.048780	0.071970	0.08333	243.83	140	chr2	232407089	.	C	G	243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.555;DP=554;ExcessHet=0;FS=0.82;MLEAC=1;MLEAF=0.083;MQ=57.22;MQRankSum=-11.25;QD=1.74;ReadPosRankSum=3.12;SOR=0.854	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1661	5	0	1	0
chr2	232407357	232407357	A	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon3:c.A256T:p.T86S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0194058491518	.	.	0.0003	0	0.0028	0	0	0	0	0	0.000207	32	154602	rs760980285	6.431e-05	6.43e-05	6.943e-05	5.913e-05	0.0021	5.362e-05	4.976e-05	0.0018	0.0016	0	0.0021	0	0	0	0	0	0	0	1.316e-05	1.314e-05	2.572e-05	0	0.0001	2.19e-06	8.2e-07	2.267e-05	9.09e-06	0	0	0.0001	0	0	0	0	0	0	0	0.146	0.25055	T	0.25	0.23707	T	0.051	0.22415	B	0.098	0.30479	B	0.000400	0.44960	D	0.222920	0.71484	0.29979	N	1.48	0.37141	L	-3.8	0.95696	D	-2.07	0.47344	N	0.199	0.21969	0.362	0.88530	D	0.740	0.91130	D	10	0.015602946	0.00327	T	0.019406	0.41765	T	0.306	0.62729	0.429	0.47680	0.732683959159	0.73030	0.5500666201334231	0.54932	0.167204392652	0.18855	0.366324901581	0.20303	T	0.591798	0.86788	D	-0.264471	0.12381	T	-0.158219	0.58511	T	0.0731720276074563	0.09089	T	0.740726	0.35986	T	0.081600964	0.18757	0.08633852	0.19995	0.081600964	0.18757	0.08633852	0.19994	-4.068	0.24817	T	.	.	0.099	0.16626	B	.	.	1.502229	0.19308	14.20	0.89081685667655475	0.18495	0.34776	0.25147	N	AEFDGBCI	0.188858	0.31612	N	-0.692005393918636	0.16249	0.8261458	-0.723561652352175	0.16375	0.8659189	0.999747862794924	0.42466	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	1.98	1.98	0.25351	2.498000	0.45023	5.615000	0.49067	0.513000	0.23382	0.959000	0.33545	1.000000	0.68203	0.010000	0.09038	1.0:0.0:0.0:0.0	10.336	0.43034	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	.	.	.	.	.	.	.	.	0.08333	1435.83	140	chr2	232407357	.	A	T	1435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.823;DP=613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-1.575;SOR=0.723	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1661	5	0	1	0
chr2	232844373	232844373	C	G	exonic	GIGYF2	.	nonsynonymous SNV	GIGYF2:NM_001103148:exon24:c.C3086G:p.S1029C,GIGYF2:NM_001103146:exon25:c.C3104G:p.S1035C,GIGYF2:NM_001103147:exon27:c.C3167G:p.S1056C,GIGYF2:NM_015575:exon27:c.C3104G:p.S1035C	.	.	.	.	.	.	.	.	.	.	.	2843847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0431093114872	0.0012	.	0.0008	0.0003	0.0003	0	0.0002	0.0012	0	0.0002	0.0009056	140	154602	rs144086186	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0002	0.0003	3.826e-05	0	9.362e-05	0.0002	0.0021	0.0024	0.0004	0.0012	0.0012	0.0013	0.0011	0.0023	0.0010	0.0010	0.0020	0.0019	0.0002	0	0.0005	0	0	0.0004	0	0.0023	0.0019	0.0004	0.041	0.63226	D	0.015	0.65728	D	0.997	0.70673	D	0.841	0.60228	P	0.004318	0.33881	N	0.354898	0.999996	0.81001	D	.	.	.	-0.83	0.74159	T	-1.09	0.46842	N	0.685	0.69125	-0.1312	0.79373	T	0.456	0.78802	T	10	0.038464576	0.02267	T	0.043109	0.60812	D	0.251	0.56024	.	.	0.720597071289	0.71813	0.631911003973687	0.63125	0.295410810981	0.31946	0.589522242546	0.51427	T	0.106176	0.41729	T	-0.134348	0.30795	T	0.0365764	0.72705	D	0.0204190339231819	0.00742	T	0.815918	0.47811	T	0.07771122	0.17656	0.091011286	0.21373	0.06918007	0.15133	0.11172769	0.26951	-10.173	0.75000	D	.	.	0.111	0.24363	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.643364	0.73943	26.1	0.99035744729284292	0.50895	0.96832	0.71180	D	AEFBI	0.573018	0.57637	D	0.555275701806744	0.70405	5.496528	0.580415662388747	0.73538	5.986643	0.999999965286414	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	3.875000	0.55821	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.691	0.95998	764	0.49969	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1284.83	33	chr2	232844373	.	C	G	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.023;DP=292;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=2.38;SOR=0.818	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8612.91	33	chr2	232847516	.	CACA	*	8612.91	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.776;DP=508;ExcessHet=0.095;FS=0.621;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.27;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:111:99:.:.:4671,4671,4671:.	4	0	2	0
chr2	233485843	233485843	T	C	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382302:exon3:c.A251G:p.Y84C,USP40:NM_001382298:exon27:c.A3059G:p.Y1020C,USP40:NM_001365479:exon29:c.A3332G:p.Y1111C,USP40:NM_001382295:exon29:c.A3332G:p.Y1111C,USP40:NM_018218:exon29:c.A3329G:p.Y1110C,USP40:NM_001382296:exon30:c.A3392G:p.Y1131C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00658571041161	0.0027	0.00119808	0.0016	0.0009	0.0001	0	0.0004	0.0026	0.0014	7.52e-05	0.001423	220	154602	rs143661480	0.0024	0.0024	0.0024	0.0025	0.0031	0.0024	0.0024	0.0030	0.0029	0.0004	0.0004	0	7.564e-05	0.0005	0.0002	0.0031	0.0016	3.52e-05	0.0015	0.0015	0.0017	0.0012	0.0027	0.0013	0.0012	0.0024	0.0022	0.0004	0	0.0010	0	0.0002	0.0002	0	0.0027	0.0019	0.0008	0.099	0.30800	T	0.141	0.33442	T	0.019	0.17989	B	0.041	0.23986	B	0.494433	0.12021	N	0.805071	0.992566	0.23862	N	1.225	0.30651	L	3.42	0.05507	T	-2.84	0.59873	D	0.425	0.46462	-0.9559	0.39934	T	0.013	0.04938	T	10	0.0053712428	0.00118	T	0.006586	0.17358	T	0.118	0.32913	.	.	0.296679040009	0.29266	0.5386652364253887	0.53791	0.0471783909086	0.05139	0.367114424706	0.20417	T	0.074606	0.34979	T	-0.532079	0.00373	T	-0.534737	0.18816	T	0.00739806427756791	0.00085	T	0.79842	0.44325	T	0.10502975	0.24833	0.12185562	0.29397	0.10502975	0.24832	0.12185562	0.29397	-3.39	0.14922	T	.	.	0.052	0.00647	B	.;.;.	.;.;.	1.356922	0.17655	13.29	0.63860076162042823	0.07336	0.56687	0.30181	D	AEFDBI	0.122060	0.23703	N	-0.866374065651372	0.11649	0.5633327	-0.827114871354566	0.13838	0.7200627	0.999412543386526	0.39577	0.50712	0.20391	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.75	0.574	0.16553	0.916000	0.28273	0.131000	0.15046	-0.120000	0.14102	0.842000	0.30316	0.016000	0.20520	0.228000	0.22680	0.1302:0.2905:0.0:0.5793	4.675	0.12089	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1687.83	34	chr2	233485843	.	T	C	1687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=408;ExcessHet=0;FS=10.414;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.29;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	5	0	1	0
chr2	233637180	233637180	T	C	exonic	UGT1A10	.	nonsynonymous SNV	UGT1A10:NM_019075:exon1:c.T658C:p.C220R	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0003	0.00199681	0.0008	0	0.0003	0	0	0.0003	0	0.0044	0.0006792	105	154602	rs142057126	0.0004	0.0004	0.0003	0.0005	0.0037	0.0004	0.0003	0.0034	0.0033	5.975e-05	0.0002	3.827e-05	0	0	0.0016	0.0002	0.0004	0.0037	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.406e-05	0	0	0	0	0	0.0068	0.0003	0	0.0046	0.166	0.91255	T	0.109	0.60337	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.986108	0.51612	D	1.33	0.33268	L	0.21	0.59983	T	-10.76	0.99332	D	0.804	0.85449	-0.5359	0.67319	T	0.323	0.69168	T	9	0.047647327	0.04111	T	.	.	.	0.396	0.71084	.	.	0.764572286728	0.76242	0.4809399931855413	0.48013	0.254785759849	0.28058	.	.	.	0.525964	0.83508	D	-0.179025	0.23881	T	-0.0302153	0.68354	D	0.284555649006313	0.24362	T	0.484552	0.14745	T	0.61438495	0.73463	0.6332522	0.78597	0.61438495	0.73464	0.6332522	0.78598	-10.769	0.78376	D	0.2913860928975286	0.38798	0.853	0.79943	P	.;.	.;.	3.766065	0.54064	23.4	0.98101484508664594	0.38278	0.94546	0.61516	D	AEFGBI	0.820685	0.74142	D	0.250590477456229	0.53666	3.534704	0.0873812919960282	0.43911	2.683271	1.47665981641521E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	3.52	0.39415	7.815000	0.84695	-0.631000	0.08125	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.0:1.0	12.535	0.55481	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3032.83	33	chr2	233637180	.	T	C	3032.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.466;DP=464;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.083;MQ=59.97;MQRankSum=0.97;QD=11.49;ReadPosRankSum=-1.318;SOR=0.564	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr2	233789904	233789904	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon5:c.C461T:p.S154F	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	.	.	0.000998403	0.0040	0.0011	0.0034	0	0.0612	0.0058	0.0065	0.0026	0.0014295	221	154602	rs141152795	0.0065	0.0062	0.0067	0.0063	0.0069	0.0064	0.0063	0.0067	0.0067	0.0010	0.0013	0.0023	0	0.0209	0.0028	0.0069	0.0052	0.0022	0.0051	0.0051	0.0048	0.0054	0.0071	0.0048	0.0047	0.0066	0.0064	0.0012	0.0066	0.0009	0.0026	0	0.0187	0	0.0071	0.0038	0.0025	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	0.155679	0.17823	N	0.357775	0.795712	0.29174	N	.	.	.	2.74	0.11730	T	-3.12	0.63782	D	0.818	0.83678	-1.1038	0.03661	T	0.062	0.25708	T	8	0.010955572	0.00242	T	.	.	.	0.274	0.59007	.	.	0.260249123532	0.25628	0.6228905632691863	0.62222	2.46197207718E-4	0.00014	.	.	.	0.065751	0.32768	T	-0.223566	0.17509	T	-0.0875156	0.64349	T	0.0158343611239122	0.00371	T	0.79802	0.44234	T	0.16531461	0.36795	0.21548507	0.46140	0.16531461	0.36795	0.21548507	0.46139	-9.47	0.70672	D	.	.	0.897	0.86814	P	.;.	.;.	4.293562	0.65498	24.8	0.99817045495501178	0.90061	0.82229	0.41488	D	AEFDBI	0.458834	0.50969	N	0.32186175946741	0.57272	3.893942	0.356145539269392	0.58878	4.06133	0.141493588581754	0.17281	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	3.647000	0.54144	5.642000	0.49152	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	13.222	0.59321	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	645.83	37	chr2	233789904	.	C	T	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.226;DP=233;ExcessHet=0;FS=3.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.641;SOR=0.336	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr2	233796262	233796262	G	A	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon11:c.G1201A:p.A401T	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0164469901757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252096436	6.438e-06	7.524e-06	7.058e-06	5.802e-06	0.0002	3.03e-06	2.19e-06	1.048e-05	3.92e-06	6.332e-05	0	0	2.8e-05	0	0.0002	3.708e-06	1.725e-05	0	2.66e-05	2.635e-05	3.889e-05	1.366e-05	9.8e-05	8.22e-06	5.19e-06	3.284e-05	1.938e-05	9.8e-05	0	0	0	0	0	0	0	0	0	0.316	0.13744	T	0.0	0.92824	D	.	.	.	.	.	.	0.002456	0.36537	N	0.000000	0.991401	0.24039	N	.	.	.	2.69	0.12268	T	-1.26	0.31778	N	0.121	0.11483	-1.0463	0.15447	T	0.037	0.15770	T	8	0.12000868	0.22723	T	0.016447	0.37712	T	0.033	0.08068	0.34	0.33141	0.110078149338	0.10416	0.04340518517455599	0.04285	2.46197207718E-4	0.00014	.	.	.	0.008583	0.07868	T	-0.438427	0.01321	T	-0.6125	0.11783	T	0.836839735507965	0.49071	D	0.636736	0.25039	T	0.043405738	0.06758	0.1081021	0.26035	0.043405738	0.06758	0.1081021	0.26034	-1.505	0.01774	T	.	.	0.090	0.12418	B	.;.	.;.	2.212410	0.28225	17.73	0.99846850402343834	0.92663	0.74523	0.36458	D	AEFDBI	0.182896	0.31022	N	-0.0438643004603891	0.39877	2.358832	-0.0484978893144721	0.37555	2.200506	0.0220880967580268	0.13403	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.09	3.21	0.35933	2.470000	0.44777	4.507000	0.43632	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0921:0.0:0.7348:0.1731	6.765	0.22749	763	0.50172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1645.83	41	chr2	233796262	.	G	A	1645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.836;DP=331;ExcessHet=0;FS=0.746;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.516;SOR=0.569	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	5	0	1	0
chr2	233841920	233841920	G	A	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.C605T:p.T202M,HJURP:NM_001282962:exon6:c.C698T:p.T233M,HJURP:NM_018410:exon8:c.C860T:p.T287M	.	431	1089	2	0	0	2	0.000917431	.	.	.	2673588	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0431582298789	7.7e-05	.	0.0002	9.61e-05	8.637e-05	0	0	0.0001	0	0.0010	0.0001876	29	154602	rs375879998	0.0001	0.0001	8.984e-05	0.0001	0.0010	0.0001	9.415e-05	0.0008	0.0007	2.987e-05	2.236e-05	0	0	0	0	6.565e-05	0.0001	0.0010	9.198e-05	9.194e-05	7.709e-05	0.0001	0.0012	5.527e-05	4.364e-05	0.0005	0.0004	4.826e-05	0	6.544e-05	0.0003	0	0	0	5.88e-05	0	0.0012	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.953	0.76113	D	0.002626	0.36208	N	0.127661	0.99449	0.23508	N	1.935	0.51832	L	0.44	0.56609	T	-4.73	0.84742	D	0.468	0.66959	-0.8291	0.53358	T	0.257	0.62777	T	10	0.12719074	0.24187	T	0.043158	0.60838	D	0.258	0.56959	.	.	0.723437521545	0.72099	0.21895567470315777	0.21811	0.426199210594	0.42998	0.490118950605	0.37455	T	0.073711	0.44609	T	-0.313454	0.07448	T	-0.279379	0.46867	T	0.594254374504089	0.36174	D	0.813919	0.46746	T	0.20043314	0.42018	0.27522427	0.53457	0.20043314	0.42017	0.27522427	0.53456	-5.057	0.37569	T	.	.	0.309	0.57523	B	.;.;.;.;.	.;.;.;.;.	4.395646	0.67869	25.2	0.99806448649169621	0.89085	0.85469	0.44604	D	AEFBCI	0.220940	0.34562	N	0.214323818128673	0.51893	3.367161	0.109413521692417	0.45028	2.773435	0.999976021584836	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.46	3.58	0.40133	3.841000	0.55557	7.597000	0.61435	-0.106000	0.15538	0.988000	0.36536	1.000000	0.68203	0.263000	0.23594	0.1028:0.0:0.8972:0.0	8.520	0.32434	889	0.27310	.;.;Holliday junction recognition protein, HJURP;Holliday junction recognition protein, HJURP;Holliday junction recognition protein, HJURP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	3373.04	101	chr2	233841920	.	G	A	3373.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.4;SOR=0.839	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1239	5	1	0	0
chr2	236419198	236419198	T	C	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270585:exon8:c.A1106G:p.Q369R,IQCA1:NM_024726:exon8:c.A1085G:p.Q362R	.	658	857	6	1	0	8	0.00464576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0008	0.0363419	0.0160	0.0025	0.0188	0.1067	0.0083	0.0006	0.0175	0.0305	0.0045989	711	154602	rs3754644	0.0061	0.0061	0.0055	0.0068	0.1164	0.0060	0.0060	0.1134	0.1122	0.0019	0.0278	7.977e-05	0.1164	0.0054	0.0024	0.0002	0.0086	0.0305	0.0083	0.0083	0.0070	0.0096	0.1237	0.0079	0.0077	0.1158	0.1126	0.0026	0	0.0155	0	0.1237	0.0040	0.0034	0.0003	0.0057	0.0398	0.094	0.31383	T	0.193	0.29639	T	0.017	0.17573	B	0.002	0.06944	B	0.197305	0.16690	N	0.571308	1	0.08975	P	.	.	.	-3.19	0.93170	D	-0.3	0.11913	N	0.029	0.01347	-0.8804	0.49730	T	0.005	0.01833	T	9	0.0019504428	0.00027	T	.	.	.	0.181	0.45247	.	.	.	.	0.04755829506110387	0.04698	0.0818412678812	0.09219	0.367023050785	0.20404	T	9.15E-4	0.00471	T	-0.431825	0.01445	T	-0.296346	0.45110	T	0.00487397941715818	0.00052	T	0.390461	0.09684	T	0.047121234	0.08001	0.06595874	0.13445	0.047121234	0.08001	0.06595874	0.13444	-4.842	0.35077	T	.	.	0.093	0.14842	B	.;.	.;.	0.509229	0.08783	5.558	0.60940680663833757	0.06586	0.03981	0.09396	N	AEFGBI	0.044839	0.07264	N	-1.09775849660183	0.06684	0.3084028	-1.11680872447812	0.07378	0.3586908	1.86193992698828E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.52	2.34	0.28071	0.462000	0.21667	1.238000	0.25088	-0.147000	0.12262	0.001000	0.13787	0.004000	0.18990	0.011000	0.09372	0.0:0.0:0.2343:0.7657	6.982	0.23889	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003802	0.000000	0.000000	0.004902	0.000000	0.000000	0.000000	0.027273	0.1667	704.06	29	chr2	236419198	.	T	C	704.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=173;ExcessHet=0.4139;FS=1.023;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0;SOR=0.52	GT:AD:DP:GQ:PL	0/1:17,24:41:99:627,0,360	4	0	2	0
chr2	236488062	236488062	G	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon4:c.C586A:p.Q196K,IQCA1:NM_001270585:exon4:c.C607A:p.Q203K,IQCA1:NM_024726:exon4:c.C586A:p.Q196K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0447732610403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275507822	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.02619	T	0.925	0.02825	T	0.002	0.09854	B	0.004	0.10090	B	0.045865	0.23494	N	0.364857	1	0.08975	N	.	.	.	-3.15	0.92938	D	-0.2	0.10136	N	0.325	0.39558	-0.5894	0.65245	T	0.572	0.84522	D	10	0.09491813	0.16914	T	0.044773	0.61656	D	0.187	0.46274	0.334	0.32167	0.627131723059	0.62409	0.42060100760455804	0.41976	0.0906231924294	0.10225	0.358836978674	0.19216	T	0.002465	0.01855	T	0.0147473	0.53670	T	-0.216593	0.53065	T	0.0318657017610459	0.02284	T	0.739826	0.37371	T	0.055351403	0.10745	0.048938744	0.07375	0.055351403	0.10745	0.048938744	0.07375	-3.699	0.19304	T	.	.	0.09	0.12891	B	.;.;.	.;.;.	1.517870	0.19489	14.29	0.21595673766907045	0.00830	0.83969	0.43058	D	AEFI	0.193268	0.32039	N	-0.683999519515503	0.16478	0.8398602	-0.595203368380821	0.19617	1.05333	0.986530997267102	0.31081	0.638212	0.43195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.45	3.5	0.39181	2.319000	0.43447	5.938000	0.51432	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.067000	0.16453	0.0:0.1424:0.7187:0.1389	11.270	0.48369	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	699.83	35	chr2	236488062	.	G	T	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.318;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=1.59;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	5	0	1	0
chr2	237336440	237336440	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon37:c.C6839T:p.T2280I,COL6A3:NM_057167:exon39:c.C8042T:p.T2681I,COL6A3:NM_004369:exon40:c.C8660T:p.T2887I	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1444072	not_provided|Bethlem_myopathy_1A|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.217	0.0413549720963	.	.	3.295e-05	9.61e-05	0	0	0	1.498e-05	0.0022	0	2.59e-05	4	154602	rs765812583	4.241e-05	4.241e-05	4.22e-05	4.263e-05	5.216e-05	3.376e-05	3.065e-05	4.091e-05	3.741e-05	0	0	0	0	0	0	5.216e-05	6.623e-05	0	4.598e-05	4.597e-05	5.138e-05	4.034e-05	7.237e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	7.237e-05	0	0	0	0	0	0	5.879e-05	0	0	0.173	0.22573	T	0.115	0.36630	T	0.288	0.32258	B	0.158	0.34617	B	0.019428	0.27259	N	0.251357	1	0.08975	N	1.79	0.46772	L	-2.34	0.88220	D	-0.25	0.12283	N	0.104	0.15609	-0.3056	0.74828	T	0.567	0.84317	D	10	0.11320448	0.21258	T	0.041355	0.59883	D	0.217	0.51112	0.319	0.29741	0.800277870825	0.79841	0.1835805725186393	0.18277	0.159409428021	0.17987	0.31321978569	0.12393	T	0.154959	0.49648	T	-0.141871	0.29592	T	-0.260037	0.48822	T	0.0591415278613567	0.07033	T	0.823618	0.49671	T	0.037674602	0.04875	0.03640171	0.03080	0.037674602	0.04874	0.03640171	0.03080	-7.209	0.55546	T	.	.	0.134	0.45074	B	.;.;.;.;.	.;.;.;.;.	1.353803	0.17619	13.27	0.83420680346023734	0.14716	0.07461	0.13478	N	AEFDBHCI	0.081834	0.16563	N	-0.451548783912009	0.23687	1.273795	-0.510684213486323	0.21863	1.18474	0.999783301374981	0.43007	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.88	2.98	0.33575	1.744000	0.37894	-0.653000	0.08018	0.656000	0.54149	0.012000	0.18695	0.000000	0.08366	0.126000	0.19410	0.1331:0.0:0.8669:0.0	6.439	0.21043	955	0.09969	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	2322.83	42	chr2	237336440	.	G	A	2322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.862;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.242;SOR=0.715	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr2	237368796	237368796	A	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon7:c.T2846G:p.V949G,COL6A3:NM_057167:exon9:c.T4049G:p.V1350G,COL6A3:NM_004369:exon10:c.T4667G:p.V1556G	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.326293072267	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs375207869	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.969	0.56768	D	0.755	0.56206	P	0.024992	0.26166	N	0.261981	1	0.81001	D	3.925	0.96283	H	-1.37	0.80214	T	-5.65	0.87911	D	0.332	0.51405	0.524	0.90875	D	0.710	0.90035	D	10	0.5297289	0.63114	D	0.326293	0.91622	D	0.642	0.86384	.	.	0.929830039807	0.92911	0.7963900224668918	0.79592	0.734343058358	0.62892	0.264051198959	0.05382	T	0.586435	0.86536	D	0.196446	0.73560	D	0.0444048	0.73216	D	0.658129353991266	0.38814	D	0.762724	0.38847	T	0.841444	0.86711	0.74156857	0.84724	0.841444	0.86713	0.74156857	0.84725	-6.817	0.52685	T	0.6254892606870966	0.69431	0.401	0.67077	A	.;.;.;.;.	.;.;.;.;.	3.176585	0.43098	21.7	0.94944570985029741	0.25843	0.98139	0.79933	D	AEFBI	0.838745	0.75623	D	0.343412705170158	0.58391	4.011201	0.160406906363571	0.47695	2.995973	0.999979472256532	0.50053	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	4.2	0.48814	6.305000	0.72774	9.306000	0.79917	0.756000	0.94297	0.864000	0.30684	0.991000	0.31484	0.293000	0.24333	0.9277:0.0:0.0723:0.0	11.200	0.47967	944	0.12746	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2397.83	37	chr2	237368796	.	A	C	2397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.923;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-1.532;SOR=0.723	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1355	5	0	1	0
chr2	237371896	237371896	T	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.A2300T:p.D767V,COL6A3:NM_057164:exon7:c.A2900T:p.D967V,COL6A3:NM_057165:exon8:c.A3503T:p.D1168V,COL6A3:NM_057167:exon8:c.A3503T:p.D1168V,COL6A3:NM_004369:exon9:c.A4121T:p.D1374V	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	270397	Ullrich_congenital_muscular_dystrophy_1A|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.776	0.468001300465	.	.	9.898e-05	0	0.0002	0	0	0.0001	0.0011	0	7.76e-05	12	154602	rs766488017	8.073e-05	8.072e-05	7.623e-05	8.526e-05	0.0043	6.868e-05	6.421e-05	0.0030	0.0026	2.987e-05	8.944e-05	3.826e-05	0	0	0.0043	6.475e-05	4.967e-05	0.0001	4.614e-05	4.602e-05	3.862e-05	5.402e-05	8.826e-05	2.115e-05	1.531e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0.0032	8.826e-05	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000023	0.55875	D	0.000000	1	0.81001	D	1.52	0.38360	L	-2.07	0.85943	D	-5.5	0.85844	D	0.656	0.72477	0.561	0.91383	D	0.719	0.90375	D	10	0.95130885	0.94468	D	0.468001	0.94630	D	0.776	0.92501	0.744	0.87570	0.905784826116	0.90484	0.8310157049559171	0.83060	0.766494967178	0.64535	0.407516598701	0.26112	T	0.673355	0.90330	D	0.0453901	0.57748	T	0.0640918	0.74515	D	0.217973637576734	0.21362	T	0.953005	0.83719	D	0.8560176	0.87784	0.8099054	0.88894	0.8560176	0.87785	0.8099054	0.88895	-4.043	0.36775	T	0.5899986827693002	0.65679	0.194	0.49960	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.787301	0.36630	20.3	0.99480112634803608	0.66850	0.99449	0.96169	D	AEFBI	0.836748	0.75447	D	0.623100941597932	0.74638	6.16679	0.584081609424523	0.73799	6.029885	0.999999999841018	0.74766	0.594549	0.33734	0	0.59043	0.45803	0	0.597571	0.31856	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	4.199000	0.58223	3.396000	0.38099	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:0.0:1.0	15.867	0.78850	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2080.83	36	chr2	237371896	.	T	A	2080.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.145;DP=338;ExcessHet=0;FS=1.279;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.806;SOR=0.846	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1348	5	0	1	0
chr2	237376910	237376910	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon4:c.G1111A:p.A371T,COL6A3:NM_057164:exon5:c.G1711A:p.A571T,COL6A3:NM_057165:exon6:c.G2314A:p.A772T,COL6A3:NM_057167:exon6:c.G2314A:p.A772T,COL6A3:NM_004369:exon7:c.G2932A:p.A978T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275361	not_provided|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.560	0.278636386093	.	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs768292803	1.094e-05	1.094e-05	1.225e-05	9.625e-06	4.472e-05	6.48e-06	5.24e-06	7.41e-06	3.32e-06	2.987e-05	4.472e-05	0	0	0	0	8.993e-06	1.656e-05	2.319e-05	6.57e-06	6.567e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.12	0.68238	T	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000065	0.52346	D	0.000000	0.999988	0.54805	D	2.93	0.84523	M	-1.84	0.84195	D	-1.79	0.50992	N	0.808	0.80375	0.555	0.91305	D	0.777	0.92409	D	10	0.76551694	0.76672	D	0.278636	0.90149	D	0.560	0.81946	.	.	0.921606374446	0.92081	0.46413481424100134	0.46332	0.637461451962	0.57488	0.53922867775	0.44337	T	0.31349	0.68524	T	0.124966	0.66868	D	0.123257	0.78452	D	0.911743462085724	0.56741	D	0.946505	0.81072	D	0.16225107	0.36289	0.15669008	0.36673	0.16225107	0.36289	0.15669008	0.36672	-5.277	0.48571	T	0.7377850215646607	0.81975	0.305	0.53410	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.210627	0.63609	24.6	0.99941675599110291	0.99797	0.99018	0.90030	D	AEFDGBI	0.633712	0.61385	D	0.699067688359955	0.79570	7.105884	0.648990876607961	0.78535	6.895935	0.999999995913573	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	2.222000	0.42568	7.620000	0.62269	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.496	0.95067	932	0.16191	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2294.83	38	chr2	237376910	.	C	T	2294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.158;DP=328;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-1.009;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	5	0	1	0
chr2	237567117	237567117	G	A	exonic	PRLH	.	nonsynonymous SNV	PRLH:NM_015893:exon2:c.G206A:p.R69Q	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00625265117934	7.7e-05	.	6.649e-05	0	0	0	0	0.0001	0	6.1e-05	5.17e-05	8	154602	rs144703716	4.584e-05	4.583e-05	5.173e-05	3.988e-05	6.711e-05	3.662e-05	3.347e-05	3.804e-05	3.407e-05	0	6.711e-05	0	2.519e-05	0	0	4.856e-05	6.624e-05	5.798e-05	9.855e-05	9.85e-05	3.854e-05	0.0002	0.0005	6.006e-05	4.879e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	0.0001	0.0005	0	0.303	0.14352	T	0.246	0.23984	T	0.04	0.21238	B	0.009	0.14300	B	0.771216	0.09546	N	0.832156	1	0.08975	N	.	.	.	.	.	.	-0.86	0.23372	N	0.121	0.11197	-1.0099	0.26949	T	0.049	0.20947	T	8	0.050179183	0.04711	T	0.006253	0.16406	T	0.003	0.00094	.	.	0.0846915920261	0.08053	0.23563466965891047	0.23478	0.0184752091129	0.01799	0.269414663315	0.06064	T	0.169189	0.51648	T	-0.459599	0.00989	T	-0.682623	0.06825	T	0.0126927122473717	0.00213	T	0.490351	0.15073	T	0.036589004	0.04531	0.030333908	0.01477	0.036589004	0.04531	0.030333908	0.01477	-4.084	0.25054	T	.	.	0.066	0.02118	B	.	.	0.321304	0.06959	3.507	0.97859480844863711	0.36452	0.08194	0.14154	N	AEFDBCI	0.066953	0.13137	N	-0.94273052632715	0.09857	0.4683684	-1.01066569502021	0.09551	0.4757795	0.0342309960364958	0.14144	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.97	1.09	0.19517	-0.312000	0.08153	-1.031000	0.06547	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3083:0.0:0.5184:0.1733	3.56	0.07431	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	.	.	.	.	.	.	.	.	0.08333	978.83	35	chr2	237567117	.	G	A	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.26;DP=256;ExcessHet=0;FS=2.957;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.094;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr2	238140974	238140974	G	A	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.G220A:p.V74M	.	433	1088	1	0	0	1	0.000459348	.	.	.	3987381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.659	0.284932272533	7.8e-05	.	7.567e-05	0	0	0	0	3.06e-05	0	0.0004	6.47e-05	10	154602	rs368732409	6.986e-05	7.046e-05	4.361e-05	9.638e-05	0.0007	5.854e-05	5.464e-05	0.0006	0.0005	0	6.71e-05	0	0	1.919e-05	0	2.519e-05	9.945e-05	0.0007	4.598e-05	4.596e-05	5.137e-05	4.033e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.973e-05	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0006	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	0.999999	0.58761	D	3.63	0.94006	H	-0.45	0.69896	T	-2.61	0.56144	D	0.809	0.80473	0.437	0.89639	D	0.619	0.86547	D	10	0.82127076	0.81330	D	0.284932	0.90363	D	0.659	0.87234	.	.	0.764836645566	0.76268	0.7711574937301169	0.77065	0.665772069832	0.59162	0.726095676422	0.70936	T	0.60496	0.87394	D	0.0320071	0.55989	T	0.157631	0.80661	D	0.964119732379913	0.66860	D	0.944706	0.79020	D	0.90456074	0.91794	0.8795228	0.93529	0.90456074	0.91795	0.8795228	0.93529	-10.476	0.76709	D	.	.	0.618	0.69608	P	.	.	4.929189	0.81258	27.5	0.99888822383816167	0.96359	0.99151	0.91979	D	AEFDBI	0.885818	0.81667	D	0.977394355713435	0.95007	13.22709	0.880533416666877	0.94667	12.94355	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	9.881000	0.98507	9.644000	0.81155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.0:1.0:0.0	18.713	0.91628	969	0.06854	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.08333	1846.83	68	chr2	238140974	.	G	A	1846.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3;DP=403;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.384;SOR=0.674	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1857,0,1314	5	0	1	0
chr2	240745853	240745853	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon29:c.C2956T:p.P986S,KIF1A:NM_001379637:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379639:exon29:c.C2956T:p.P986S,KIF1A:NM_001379640:exon29:c.C2953T:p.P985S,KIF1A:NM_001379641:exon29:c.C2956T:p.P986S,KIF1A:NM_001379648:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379649:exon29:c.C2956T:p.P986S,KIF1A:NM_001379650:exon29:c.C2956T:p.P986S,KIF1A:NM_001379651:exon29:c.C2956T:p.P986S,KIF1A:NM_001379653:exon29:c.C2956T:p.P986S,KIF1A:NM_004321:exon29:c.C2956T:p.P986S,KIF1A:NM_001320705:exon30:c.C2983T:p.P995S,KIF1A:NM_001330289:exon30:c.C2983T:p.P995S,KIF1A:NM_001330290:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379632:exon30:c.C3208T:p.P1070S,KIF1A:NM_001379633:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379634:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379635:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379638:exon30:c.C2983T:p.P995S,KIF1A:NM_001379642:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379645:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379646:exon30:c.C3058T:p.P1020S,KIF1A:NM_001244008:exon31:c.C3259T:p.P1087S,KIF1A:NM_001379631:exon31:c.C3334T:p.P1112S	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1479	37	6	0	49	0.0162953	.	.	.	193290	Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_specified|not_provided|History_of_neurodevelopmental_disorder|Hereditary_spastic_paraplegia	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:CN169374|MedGen:C3661900|MedGen:C2711754|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0594245771781	0.0028	0.00219649	0.0041	0.0009	0.0034	0	0.0011	0.0057	0.0080	0.0030	0.0036093	558	154602	rs143037290	0.0046	0.0046	0.0045	0.0047	0.0083	0.0045	0.0045	0.0065	0.0058	0.0007	0.0030	0.0023	2.521e-05	0.0025	0.0083	0.0052	0.0042	0.0027	0.0037	0.0037	0.0039	0.0035	0.0059	0.0034	0.0033	0.0054	0.0052	0.0009	0	0.0046	0.0012	0	0.0025	0	0.0059	0.0043	0.0027	0.272	0.33585	T	0.306	0.23776	T	0.611	0.40609	P	0.223	0.40007	B	0.004401	0.33773	U	0.287719	0.996803	0.43428	D	1.01	0.25309	L	-0.56	0.73100	T	-2.13	0.57920	N	0.237	0.26717	-0.7380	0.58555	T	0.166	0.50486	T	10	0.006913662	0.00157	T	0.059425	0.67659	D	0.107	0.30369	.	.	0.488693090275	0.48504	0.6504251407530547	0.64978	0.442731520415	0.44227	0.410150766373	0.26477	T	0.234876	0.60200	T	-0.435711	0.01371	T	-0.392247	0.34289	T	0.00961875640062583	0.00125	T	0.937806	0.76632	D	0.10542153	0.24925	0.14566709	0.34540	0.12131904	0.28531	0.13042977	0.31339	-4.647	0.42416	T	.	.	0.080	0.07554	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.380396	0.30556	18.47	0.8779654377793944	0.17488	0.80881	0.40408	D	AEFDBCI	0.498454	0.53255	N	-0.244869568014696	0.31308	1.754247	-0.173117894835164	0.32530	1.851573	0.913811039238435	0.26435	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.17	4.17	0.48303	3.393000	0.52286	3.708000	0.39547	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.476	0.83976	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	0.007049	0.005051	0.006812	0.000000	0.000000	0.008621	0.009146	0.018939	0.08333	1156.83	34	chr2	240745853	.	G	A	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=290;ExcessHet=0;FS=2.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.14;SOR=0.819	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1237	5	0	1	0
chr2	240783782	240783782	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001244008:exon8:c.G755A:p.S252N,KIF1A:NM_001320705:exon8:c.G755A:p.S252N,KIF1A:NM_001330289:exon8:c.G755A:p.S252N,KIF1A:NM_001330290:exon8:c.G755A:p.S252N,KIF1A:NM_001379631:exon8:c.G755A:p.S252N,KIF1A:NM_001379632:exon8:c.G755A:p.S252N,KIF1A:NM_001379633:exon8:c.G755A:p.S252N,KIF1A:NM_001379634:exon8:c.G755A:p.S252N,KIF1A:NM_001379635:exon8:c.G755A:p.S252N,KIF1A:NM_001379636:exon8:c.G755A:p.S252N,KIF1A:NM_001379637:exon8:c.G755A:p.S252N,KIF1A:NM_001379638:exon8:c.G755A:p.S252N,KIF1A:NM_001379639:exon8:c.G755A:p.S252N,KIF1A:NM_001379640:exon8:c.G755A:p.S252N,KIF1A:NM_001379641:exon8:c.G755A:p.S252N,KIF1A:NM_001379642:exon8:c.G755A:p.S252N,KIF1A:NM_001379645:exon8:c.G755A:p.S252N,KIF1A:NM_001379646:exon8:c.G755A:p.S252N,KIF1A:NM_001379648:exon8:c.G755A:p.S252N,KIF1A:NM_001379649:exon8:c.G755A:p.S252N,KIF1A:NM_001379650:exon8:c.G755A:p.S252N,KIF1A:NM_001379651:exon8:c.G755A:p.S252N,KIF1A:NM_001379653:exon8:c.G755A:p.S252N,KIF1A:NM_004321:exon8:c.G755A:p.S252N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.825179253604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.892	0.49086	P	0.675	0.53279	P	0.000624	0.42799	U	0.243448	1	0.81001	D	3.585	0.93597	H	-1.58	0.81987	D	-2.55	0.58407	D	0.861	0.90251	0.828	0.94753	D	0.765	0.92002	D	10	0.9707978	0.96675	D	0.825179	0.98642	D	0.707	0.89514	0.843	0.94784	0.856394551767	0.85501	0.9977420874183616	0.99773	2.150824523	0.95316	0.779764413834	0.78891	T	0.908021	0.98246	D	0.161623	0.70351	D	-0.00561668	0.69970	D	0.992265641689301	0.82702	D	0.958704	0.86020	D	0.71956587	0.79137	0.69466484	0.82024	0.71956587	0.79138	0.69466484	0.82025	-13.609	0.91717	D	0.9491970964222244	0.98160	0.992	0.96865	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.740032	0.76438	26.5	0.99549718333739579	0.71086	0.77881	0.38346	D	AEFDBCI	0.705702	0.66101	D	0.557794859974276	0.70559	5.519172	0.44735992656668	0.64547	4.712403	0.999999996498318	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	7.670000	0.82907	7.525000	0.59824	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:1.0:0.0:0.0	15.199	0.72808	988	0.01987	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	278.59	83	chr2	240783782	.	C	T	278.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.977;DP=475;ExcessHet=1.383;FS=240.41;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.388;SOR=8.932	GT:AD:DP:GQ:PL	0/1:90,33:123:45:45,0,1446	2	0	3	1
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N	Hyperoxaluria, primary, type 1, Autosomal recessive	4	1474	42	2	0	46	0.0153641	.	.	YES	200420	Primary_hyperoxaluria,_type_I|not_provided|not_specified	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	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	1	0	0.012085	0.000000	0.008174	0.014620	0.000000	0.008621	0.018293	0.018939	0.08333	483.83	33	chr2	240868891	.	C	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=249;ExcessHet=0;FS=1.158;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.344;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1379:.	5	0	1	0
chr2	241073278	241073278	C	T	exonic	SNED1	.	nonsynonymous SNV	SNED1:NM_001080437:exon27:c.C3830T:p.S1277L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0330149339652	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234525721	9.954e-06	1.163e-05	7.022e-06	1.296e-05	0.0004	5.78e-06	4.52e-06	6.159e-05	2.546e-05	0	2.761e-05	0	0	0	0.0004	1.015e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.63	0.05152	T	0.386	0.15698	T	0.001	0.07471	B	0.001	0.04355	B	0.641764	0.10592	N	0.803059	1	0.08975	N	-1.79	0.00298	N	-1.62	0.82347	D	-1.22	0.33998	N	0.028	0.01274	-0.9274	0.44516	T	0.157	0.48993	T	10	0.037262797	0.02070	T	0.033015	0.54684	D	0.201	0.48592	.	.	0.19168177325	0.18762	0.17715051848082464	0.17634	0.347992445968	0.36675	0.249187797308	0.03682	T	0.021901	0.16976	T	-0.271417	0.11599	T	-0.627648	0.10594	T	0.131664529442787	0.15535	T	0.716128	0.32863	T	0.03680149	0.04597	0.03256244	0.02011	0.03680149	0.04597	0.03256244	0.02011	-3.605	0.18994	T	.	.	0.064	0.01692	B	.;.	.;.	-0.354364	0.02388	0.264	0.91449987359748963	0.20720	0.04722	0.10417	N	AEFDBHCI	0.054058	0.09796	N	-1.49232879301526	0.01904	0.08353795	-1.43621914655943	0.02897	0.1341397	0.738254653992337	0.23168	0.615465	0.37627	0	0.550933	0.16991	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.94	-0.57	0.11164	-0.230000	0.09093	-6.861000	0.01288	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5249:0.1516:0.3235	5.337	0.15267	981	0.03995	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	531.83	39	chr2	241073278	.	C	T	531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=210;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.015;SOR=1.048	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	5	0	1	0
chr3	3845708	3845708	C	T	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C1067T:p.T356I,LRRN1:NM_001324188:exon3:c.C1067T:p.T356I,LRRN1:NM_001324189:exon3:c.C1067T:p.T356I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0169594253799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1441426868	2.052e-06	2.052e-06	0	4.125e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.372	0.16376	T	0.013	0.16609	B	0.008	0.13708	B	0.000000	0.84330	D	0.046483	1	0.81001	D	1.39	0.34934	L	0.41	0.57100	T	-1.2	0.30555	N	0.704	0.70790	-0.9346	0.43455	T	0.171	0.51261	T	10	0.4003954	0.55526	T	0.016959	0.38457	T	0.136	0.36778	0.391	0.41443	0.110392049598	0.10638	0.730475172573784	0.72992	0.205702266564	0.22994	0.772989571095	0.77872	T	0.037047	0.24331	T	-0.0050316	0.50959	T	-0.245004	0.50309	T	0.519604491929757	0.33351	D	0.950805	0.81197	D	0.22968371	0.45710	0.20609692	0.44808	0.22968371	0.45710	0.20609692	0.44807	-5.753	0.44163	T	.	.	0.366	0.57591	A	.	.	3.217065	0.43812	21.8	0.99599261164921282	0.74101	0.98796	0.86965	D	AEFDBI	0.940393	0.94228	D	0.188297592435973	0.50637	3.251825	0.365149748615435	0.59426	4.120226	0.999999999997852	0.74766	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.839000	0.85040	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.473	0.94963	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1911.83	83	chr3	3845708	.	C	T	1911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.785;DP=521;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.14;SOR=0.608	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	5	0	1	0
chr3	9365124	9365124	A	T	exonic	THUMPD3	.	nonsynonymous SNV	THUMPD3:NM_001114092:exon2:c.A56T:p.N19I,THUMPD3:NM_015453:exon2:c.A56T:p.N19I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00369233805188	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.72154	D	0.33	0.63109	T	0.01	0.15535	B	0.002	0.06944	B	0.376002	0.13457	N	0.734945	1	0.08975	N	1.445	0.36358	L	1.07	0.39586	T	-1.82	0.97928	N	0.295	0.33360	-1.0334	0.19363	T	0.072	0.29227	T	10	0.069889605	0.10092	T	0.003692	0.08527	T	0.048	0.13305	0.258	0.20002	0.459282285925	0.45551	0.35460081861088105	0.35374	0.102494100127	0.11603	0.465213179588	0.34024	T	0.006106	0.05549	T	-0.11106	0.34595	T	-0.397306	0.33699	T	0.13783087282049	0.16086	T	0.756624	0.37993	T	0.12423188	0.29153	0.10370793	0.24888	0.12423188	0.29153	0.10370793	0.24888	-4.918	0.35937	T	.	.	0.082	0.27851	B	.;.;.;.;.	.;.;.;.;.	2.208722	0.28174	17.71	0.98083520952905667	0.38125	0.21495	0.21422	N	AEFBI	0.076890	0.15477	N	-0.653089260010576	0.17370	0.8932494	-0.601876090958116	0.19445	1.043285	0.999906566176815	0.45458	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	2.97	0.33479	0.507000	0.22383	2.457000	0.32838	0.665000	0.62972	0.004000	0.16614	0.579000	0.25612	0.937000	0.47636	0.7688:0.1499:0.0812:0.0	6.930	0.23613	793	0.45818	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	182.83	33	chr3	9365124	.	A	T	182.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.308;DP=210;ExcessHet=0;FS=1.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-0.625;SOR=0.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	5	0	1	0
chr3	9767742	9767742	C	T	exonic	CAMK1	.	nonsynonymous SNV	CAMK1:NM_003656:exon2:c.G8A:p.G3E	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0127511836734	0.0007	0.00139776	0.0013	0	0.0010	0	0	0.0017	0.0033	0.0016	0.0012548	194	154602	rs113139851	0.0011	0.0011	0.0010	0.0013	0.0102	0.0011	0.0011	0.0081	0.0074	0.0003	0.0010	0.0027	0	5.63e-05	0.0102	0.0011	0.0016	0.0022	0.0008	0.0008	0.0009	0.0007	0.0035	0.0007	0.0007	0.0022	0.0018	0.0001	0	0.0007	0.0029	0.0002	0	0.0068	0.0011	0.0028	0.0035	0.004	0.65419	D	0.021	0.58089	D	0.0	0.02946	B	0.001	0.04355	B	0.001143	0.40056	N	0.167987	0.697247	0.33385	D	-0.695	0.01866	N	-0.32	0.68181	T	-0.35	0.12847	N	0.411	0.45142	-0.7683	0.56951	T	0.171	0.51245	T	10	0.00780797	0.00177	T	0.012751	0.31594	T	0.035	0.08770	.	.	0.753908736408	0.75168	0.31038781078367295	0.30951	0.270098703426	0.29533	0.679591476917	0.64210	T	0.119848	0.44167	T	-0.403479	0.02196	T	-0.35961	0.38099	T	0.0285325897958251	0.01766	T	0.269473	0.04507	T	0.18282531	0.39520	0.23688889	0.48972	0.18282531	0.39519	0.23688889	0.48971	-4.492	0.30784	T	.	.	0.075	0.35951	B	.;.	.;.	3.774754	0.54236	23.5	0.9916893267319169	0.54326	0.93817	0.59276	D	AEFDBI	0.440818	0.49923	N	-0.0923487148063139	0.37728	2.19916	0.137109516737573	0.46463	2.891858	0.999999970953272	0.74766	0.645754	0.44609	0	0.633656	0.55848	0	0.489635	0.07774	0	0.723	0.93126	0	.	.	5.66	5.66	0.87293	3.165000	0.50477	5.942000	0.51497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	16.485	0.84028	612	0.66786	.;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	914.83	33	chr3	9767742	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.385;SOR=0.598	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr3	9947665	9947665	G	A	exonic	PRRT3	.	nonsynonymous SNV	PRRT3:NM_207351:exon4:c.C1508T:p.A503V	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.037252130777	.	0.000399361	0.0002	0	0	0	0	4.374e-05	0	0.0009	5.17e-05	8	154602	rs573152783	2.902e-05	3.283e-05	1.962e-05	3.863e-05	0.0004	2.159e-05	1.944e-05	0.0003	0.0003	0	0	0	0	0	0	4.587e-06	1.718e-05	0.0004	4.595e-05	5.249e-05	5.138e-05	4.027e-05	0.0010	2.107e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.005	0.63226	D	0.078	0.42261	T	0.998	0.73220	D	0.955	0.69585	D	0.002159	0.37138	N	0.183733	0.998246	0.44674	D	1.645	0.42016	L	2.36	0.16089	T	-1.26	0.31778	N	0.508	0.53972	-1.0897	0.05582	T	0.057	0.24055	T	9	0.16257775	0.30466	T	0.037252	0.57503	D	0.154	0.40340	0.221	0.14371	0.158540857583	0.15491	0.25687869368407756	0.25601	0.526887597323	0.50308	0.776511311531	0.78402	T	0.012538	0.11001	T	-0.305071	0.08189	T	-0.372861	0.36554	T	0.42895033955574	0.30022	T	0.744226	0.36418	T	0.14853579	0.33905	0.117525086	0.28370	0.14853579	0.33905	0.117525086	0.28370	-4.979	0.36611	T	.	.	0.221	0.45174	B	.	.	3.522544	0.49381	22.8	0.99892660335796468	0.96666	0.19757	0.20784	N	AEFDGBCI	0.240774	0.36250	N	0.0746544749025371	0.45282	2.787397	0.0289489432973313	0.41065	2.460952	0.999999999999116	0.74766	0.652421	0.48094	0	0.577304	0.33150	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.14	5.14	0.70008	4.679000	0.61339	6.983000	0.57133	0.590000	0.31872	0.994000	0.38300	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	16.162	0.81535	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	833.83	43	chr3	9947665	.	G	A	833.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.697;DP=264;ExcessHet=0;FS=3.14;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.296;SOR=1.143	GT:AD:DP:GQ:PL	0/1:42,36:78:99:844,0,1171	5	0	1	0
chr3	10238890	10238890	C	A	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1616A:p.A539D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0176375120969	.	.	5.766e-05	0	8.637e-05	0	0	0	0.0011	0.0003	4.53e-05	7	154602	rs771281583	1.505e-05	1.505e-05	1.361e-06	2.888e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.052	0.47581	T	0.883	0.48537	P	0.368	0.43478	B	0.712786	0.06267	N	1.176450	1	0.08975	N	1.59	0.40313	L	0.64	0.52867	T	-0.93	0.24898	N	0.257	0.29081	-1.0159	0.25045	T	0.060	0.24981	T	10	0.06566167	0.08892	T	0.017638	0.39418	T	0.071	0.20720	0.163	0.06730	0.450539155747	0.44678	0.3439438281707607	0.34308	0.211066815485	0.23610	0.320164829493	0.13447	T	0.076578	0.35452	T	-0.416006	0.01815	T	-0.575661	0.14935	T	0.212196931242943	0.21068	T	0.594241	0.21993	T	0.113297224	0.26759	0.10379162	0.24912	0.113297224	0.26759	0.10379162	0.24912	-3.028	0.10486	T	.	.	0.101	0.17445	B	.	.	0.966130	0.13426	9.937	0.95156449640267693	0.26296	0.02134	0.06293	N	AEFDBI	0.037541	0.05178	N	-1.01108960740706	0.08373	0.3923567	-1.15248225097837	0.06723	0.3245867	0.999496894970491	0.40007	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	-4.8	0.02957	-0.656000	0.05441	-1.241000	0.05933	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1217:0.1805:0.3592:0.3387	1.960	0.03179	721	0.55360	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1750.83	33	chr3	10238890	.	C	A	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.726;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.589;SOR=0.686	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,114,1710	5	0	1	0
chr3	13354041	13354041	A	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon17:c.T2395A:p.F799I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0369568355687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.165	0.88605	M	1.84	0.24656	T	-5.34	0.84674	D	0.943	0.95021	-0.7671	0.57017	T	0.175	0.51927	T	10	0.85620856	0.84818	D	0.036957	0.57318	D	0.513	0.79156	0.614	0.74768	0.472023113445	0.46832	0.7635692406098001	0.76304	0.712328074586	0.61763	0.653359472752	0.60464	T	0.487644	0.81362	T	0.212964	0.75111	D	0.0681316	0.74787	D	0.995101273059845	0.86838	D	0.915108	0.69728	D	0.63262343	0.74438	0.49743834	0.70940	0.63262343	0.74439	0.49743834	0.70940	-11.456	0.82100	D	.	.	0.852	0.79856	P	.	.	4.539113	0.71334	25.7	0.99193425507002919	0.55053	0.98587	0.84406	D	AEFBCI	0.905858	0.85790	D	0.673132065322312	0.77874	6.759174	0.588780512901025	0.74131	6.085612	0.999998347191465	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.53	4.34	0.51267	9.325000	0.96006	9.247000	0.79462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8613:0.1387:0.0:0.0	12.604	0.55866	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	694.83	35	chr3	13354041	.	A	T	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.28;DP=298;ExcessHet=0;FS=0.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.189;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	5	0	1	0
chr3	14158267	14158267	T	C	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.A1037G:p.E346G,XPC:NM_001354727:exon9:c.A1616G:p.E539G,XPC:NM_001354729:exon9:c.A1598G:p.E533G,XPC:NM_001354730:exon9:c.A1616G:p.E539G,XPC:NM_004628:exon9:c.A1616G:p.E539G	Xeroderma pigmentosum, group C, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	292745	Xeroderma_pigmentosum|not_provided|Xeroderma_pigmentosum,_group_C	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0207686821974	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs563236303	0.0001	0.0001	7.76e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0001	0	0	0	0.0014	4.137e-05	0.0002	0.0016	9.192e-05	9.186e-05	8.994e-05	9.398e-05	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	4.812e-05	0	6.534e-05	0	0	0	0.0034	5.88e-05	0.0009	0.0008	0.006	0.61437	D	0.019	0.59159	D	0.589	0.39027	P	0.507	0.47859	P	0.032828	0.24977	N	0.490039	1	0.08975	N	2.625	0.76847	M	1.86	0.24285	T	-5.1	0.83027	D	0.29	0.32812	-1.0190	0.24041	T	0.098	0.36703	T	10	0.046277046	0.03798	T	0.020769	0.43429	T	0.146	0.38789	0.487	0.57098	0.562428738172	0.55904	0.4562593524259178	0.45543	0.423969410198	0.42838	0.253427088261	0.04138	T	0.199498	0.55679	T	-0.435597	0.01373	T	-0.43386	0.29497	T	0.20733011249593	0.20813	T	0.864413	0.56163	D	0.53266126	0.68981	0.57312363	0.75275	0.53266126	0.68982	0.57312363	0.75276	-10.63	0.77590	D	0.8147472838689709	0.88897	0.108	0.20430	B	.	.	3.863336	0.56045	23.7	0.99807742088000762	0.89174	0.72339	0.35411	D	AEFGBHCI	0.220856	0.34555	N	0.0518203606339997	0.44226	2.700549	-0.0169985880282578	0.38946	2.301974	0.999997998304014	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.8	4.6	0.56512	3.361000	0.52028	2.871000	0.35267	0.665000	0.62972	0.778000	0.29449	0.886000	0.27767	0.015000	0.10482	0.0:0.0:0.1331:0.8669	13.140	0.58847	789	0.46346	Rad4/PNGase transglutaminase-like fold	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2746.83	33	chr3	14158267	.	T	C	2746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.01;DP=402;ExcessHet=0;FS=0.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.155;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1449	5	0	1	0
chr3	14514460	14514460	G	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.C1325T:p.T442M	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000399361	0.0030	0.0004	0.0008	0.0036	0.0020	0.0041	0	0.0021	0.0010414	161	154602	rs181479678	0.0019	0.0019	0.0019	0.0018	0.0020	0.0018	0.0018	0.0019	0.0019	0.0002	0.0010	0.0037	0.0015	0.0008	0.0007	0.0020	0.0022	0.0020	0.0012	0.0012	0.0011	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0002	0	0.0007	0.0037	0.0008	0.0003	0	0.0020	0.0009	0.0015	.	.	.	0.03	0.57104	D	0.624	0.40023	P	0.097	0.30390	B	.	.	.	.	.	.	.	1.305	0.32671	L	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	0.020171791	0.00461	T	.	.	.	.	.	.	.	0.741229347079	0.73890	0.3952520998555336	0.39440	.	.	0.439755141735	0.30543	T	0.169436	0.51682	T	-0.0430156	0.45500	T	0.163645	0.81027	D	.	.	.	0.920608	0.71304	D	0.03293318	0.03412	0.11600511	0.28004	0.03293318	0.03412	0.11600511	0.28003	-10.472	0.76686	D	.	.	0.090	0.12655	B	.;.;.	.;.;.	2.880926	0.38127	20.7	0.88081805596012464	0.17703	0.94374	0.60962	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999995305308547	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.60726	0.40933	4.75	1.99	0.25423	5.000000	0.63685	5.000000	0.46590	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.2262:0.0:0.7738:0.0	9.697	0.39330	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001046	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003876	0.08333	501.83	36	chr3	14514460	.	G	A	501.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.369;DP=220;ExcessHet=0;FS=1.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.177;SOR=1.042	GT:AD:DP:GQ:PL	0/1:27,22:49:99:512,0,693	5	0	1	0
chr3	14525885	14525885	G	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon2:c.C87A:p.D29E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749908803	2.837e-06	6.84e-06	1.402e-06	4.308e-06	0.0002	6.6e-07	4.5e-07	.	.	0	0	0	0	0	0.0002	9.218e-07	3.418e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.18732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.06059	.	.	.	.	.	.	.	0.1082387	0.20141	T	.	.	.	.	.	.	.	0.563764762904	0.56040	0.3694764415195257	0.36861	.	.	0.420895457268	0.27959	T	0.047482	0.27735	T	-0.178215	0.24000	T	-0.49377	0.22997	T	.	.	.	0.585341	0.21331	T	0.044060647	0.06977	0.058819305	0.10935	0.044060647	0.06977	0.058819305	0.10934	-2.535	0.06025	T	.	.	0.084	0.30238	B	.;.;.;.	.;.;.;.	-3.719386	0.00002	0.001	0.70624873876499394	0.09357	0.08921	0.14775	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999939953711	0.74766	0.119611	0.03067	2	0.085267	0.02369	0	0.090035	0.02915	2	0.058706	0.01089	0	0.187806	0.29844	5.36	-8.28	0.00888	-3.037000	0.00697	-20.000000	0.00162	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.512:0.2844:0.2036:0.0	8.425	0.31882	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	33	chr3	14525885	.	G	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=256;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-2.518;SOR=0.565	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1519	5	0	1	0
chr3	14819877	14819877	C	T	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.C806T:p.T269I,FGD5:NM_152536:exon1:c.C806T:p.T269I	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00774495904826	.	.	9.008e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs750921795	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.186	0.28860	T	0.0	0.02946	B	0.0	0.01387	B	0.115861	0.02681	N	1.862450	1	0.08975	N	0.6	0.15550	N	-0.91	0.75001	T	-1.01	0.27669	N	0.038	0.05287	-0.9383	0.42885	T	0.137	0.45432	T	10	0.07198587	0.10686	T	0.007745	0.20536	T	0.171	0.43483	0.134	0.03833	0.287411543184	0.28351	0.026819447664188808	0.02631	0.166320250168	0.18766	0.21464625001	0.01024	T	0.013606	0.11736	T	-0.395818	0.02466	T	-0.624194	0.10859	T	0.383595377206802	0.28321	T	0.357364	0.10763	T	0.023901274	0.01171	0.024554877	0.00478	0.023901274	0.01170	0.024554877	0.00478	-5.552	0.42351	T	.	.	0.145	0.31906	B	.;.;.	.;.;.	-1.370391	0.00382	0.007	0.33317343898379814	0.01978	0.00409	0.02034	N	AEFDBI	0.066212	0.12955	N	-1.95670766578747	0.00262	0.01122089	-2.0709647240247	0.00215	0.009494225	0.999999908732951	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.25	-10.5	0.00234	-2.747000	0.00865	-1.384000	0.05566	-1.780000	0.00653	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.1829:0.2608:0.3113	0.393	0.00385	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1092.83	37	chr3	14819877	.	C	T	1092.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=284;ExcessHet=0;FS=4.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.418;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	5	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	473.67	189	chr3	15003967	.	C	G	473.67	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.886;DP=807;ExcessHet=0.4139;FS=209.401;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=2.05;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,27:184:99:0|1:15003967_C_G:145,0,4821:15003967	2	0	2	2
chr3	17161154	17161154	C	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349091:exon20:c.G1789A:p.G597S,TBC1D5:NM_001349080:exon21:c.G2197A:p.G733S,TBC1D5:NM_001349086:exon21:c.G1855A:p.G619S,TBC1D5:NM_001349087:exon21:c.G1789A:p.G597S,TBC1D5:NM_001349089:exon21:c.G1789A:p.G597S,TBC1D5:NM_001349073:exon22:c.G2263A:p.G755S,TBC1D5:NM_001349077:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349078:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349081:exon22:c.G2218A:p.G740S,TBC1D5:NM_001349083:exon22:c.G1855A:p.G619S,TBC1D5:NM_001349088:exon22:c.G1789A:p.G597S,TBC1D5:NM_001349090:exon22:c.G1789A:p.G597S,TBC1D5:NM_014744:exon22:c.G2197A:p.G733S,TBC1D5:NM_001349074:exon23:c.G2263A:p.G755S,TBC1D5:NM_001349075:exon23:c.G2263A:p.G755S,TBC1D5:NM_001349076:exon23:c.G2197A:p.G733S,TBC1D5:NM_001349079:exon23:c.G2197A:p.G733S,TBC1D5:NM_001349082:exon23:c.G1855A:p.G619S,TBC1D5:NM_001349084:exon23:c.G1855A:p.G619S,TBC1D5:NM_001349085:exon23:c.G1855A:p.G619S,TBC1D5:NM_001134381:exon24:c.G2263A:p.G755S	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0340129734427	0.0008	0.00159744	0.0013	0.0002	0.0003	0.0001	0	0.0006	0	0.0067	0.0012031	186	154602	rs149948648	0.0010	0.0010	0.0009	0.0012	0.0068	0.0010	0.0010	0.0063	0.0061	8.961e-05	0.0002	0.0005	2.519e-05	1.872e-05	0.0009	0.0008	0.0006	0.0068	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0004	0.0045	0.0039	0.0002	0	0.0002	0.0012	0	0	0.0034	0.0006	0	0.0062	0.277	0.19854	T	0.662	0.09425	T	0.154	0.28120	B	0.015	0.17295	B	0.048650	0.23232	N	0.488192	0.814912	0.34693	D	1.5	0.37844	L	1.52	0.30669	T	-0.66	0.19085	N	0.042	0.03841	-1.0833	0.06720	T	0.053	0.22423	T	10	0.0044858754	0.00092	T	0.034013	0.55387	D	0.087	0.25287	.	.	0.357313475932	0.35345	0.2079186863380569	0.20707	0.141752327491	0.15974	0.37554037571	0.21623	T	0.008044	0.07400	T	-0.474907	0.00793	T	-0.451501	0.27532	T	0.0253299986420487	0.01317	T	0.730627	0.34984	T	0.068926334	0.15058	0.096360244	0.22893	0.068926334	0.15058	0.096360244	0.22892	-2.384	0.05035	T	.	.	0.075	0.06024	B	.;.;.	.;.;.	1.002521	0.13811	10.36	0.90447033053664116	0.19706	0.97270	0.73702	D	AEFBI	0.360076	0.45017	N	-0.26145278417615	0.30648	1.710922	-0.104933679933923	0.35191	2.033044	0.999965813416213	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.143000	0.31164	0.556000	0.19466	0.599000	0.40250	0.588000	0.27650	0.067000	0.22148	0.037000	0.13953	0.0:1.0:0.0:0.0	19.683	0.95968	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	988.83	69	chr3	17161154	.	C	T	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.08;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.697;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1128	5	0	1	0
chr3	19347879	19347879	A	G	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon5:c.A725G:p.N242S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0828614809405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.09896	T	0.271	0.22291	T	0.942	0.52977	P	0.463	0.46548	P	0.004859	0.33331	U	0.000000	1	0.81001	D	1.535	0.38868	L	-4.34	0.97267	D	-3.91	0.73042	D	0.826	0.82157	0.788	0.94269	D	0.849	0.94957	D	9	0.8009505	0.79498	D	0.082861	0.73992	D	0.593	0.83802	0.56	0.67958	0.868938009067	0.86766	0.7649749740367802	0.76446	1.60359182183	0.88737	0.781289339066	0.79122	T	0.678749	0.90544	D	0.110382	0.65392	D	-0.079221	0.64962	T	0.919687628746033	0.57851	D	0.916808	0.70203	D	0.29184356	0.52163	0.30892065	0.56908	0.29184356	0.52163	0.30892065	0.56908	-9.816	0.72802	D	.	.	0.250	0.48479	B	.	.	4.827907	0.78704	27.0	0.99511762574424389	0.68678	0.98930	0.88779	D	AEFDGBHIJ	0.924942	0.90373	D	0.346121597345919	0.58535	4.026319	0.47409820217199	0.66277	4.931371	0.999999999999994	0.74766	0.554377	0.28877	0	0.468601	0.06657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	9.294000	0.95180	11.171000	0.87970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.937	0.79508	859	0.33891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1204.83	33	chr3	19347879	.	A	G	1204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.622;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1194	5	0	1	0
chr3	19395159	19395159	T	G	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon7:c.T1025G:p.L342R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.286616318354	7.7e-05	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs370083901	6.853e-07	6.84e-07	0	1.378e-06	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.021702	0.26779	U	0.000000	1	0.81001	D	3.21	0.89262	M	-4.4	0.97419	D	-5.58	0.86450	D	0.914	0.91621	1.100	0.99670	D	0.956	0.98575	D	9	0.94763505	0.94092	D	0.286616	0.90419	D	0.956	0.99253	.	.	0.973788794047	0.97350	0.953932350564377	0.95377	2.15305358426	0.95331	0.758346915245	0.75684	T	0.734116	0.92582	D	0.556584	0.96031	D	0.561718	0.95970	D	0.97393935918808	0.70299	D	0.957304	0.83911	D	0.8877511	0.90315	0.9077363	0.95527	0.8877511	0.90316	0.9077363	0.95528	-11.369	0.81642	D	.	.	0.881	0.81555	P	.	.	5.288469	0.88792	29.7	0.99791845420211656	0.87750	0.96468	0.69288	D	AEFDHCI	0.932795	0.92368	D	0.852397497271395	0.89246	9.892903	0.805766495878536	0.90192	10.29652	0.999997636301998	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	8.017000	0.88732	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	16.114	0.81098	831	0.39019	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1221.83	38	chr3	19395159	.	T	G	1221.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=372;ExcessHet=0;FS=4.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.478;SOR=1.042	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	5	0	1	0
chr3	19975621	19975621	G	C	exonic	RAB5A	.	nonsynonymous SNV	RAB5A:NM_004162:exon3:c.G184C:p.V62L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0457493110571	.	.	8.279e-06	0	0	0	0	0	0	6.092e-05	6.5e-06	1	154602	rs372972286	4.108e-06	4.104e-06	2.724e-06	5.505e-06	6.983e-05	1.48e-06	9.7e-07	3.004e-05	2.044e-05	0	0	0	0	0	0	0	0	6.983e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.07920	T	0.386	0.15698	T	0.0	0.02946	B	0.006	0.12133	B	0.000001	0.84330	D	0.053896	1	0.81001	D	1.16	0.29674	L	-1.36	0.80125	T	-1.59	0.38345	N	0.329	0.36989	-0.7475	0.58066	T	0.254	0.62394	T	9	0.31452176	0.48893	T	0.045749	0.62128	D	0.243	0.54921	0.596	0.72617	0.677993549393	0.67526	0.5792897054659412	0.57857	0.468442230762	0.46191	0.869643568993	0.92517	D	0.447943	0.79001	T	-0.0161139	0.49404	T	-0.160293	0.58325	T	0.482345963260983	0.31983	T	0.949005	0.80370	D	0.48599848	0.66262	0.30576816	0.56603	0.48599848	0.66263	0.30576816	0.56602	-8.466	0.64204	D	.	.	0.341	0.55978	A	.	.	4.815953	0.78386	26.9	0.988677309394833	0.47580	0.99473	0.96463	D	AEFGBI	0.900748	0.84664	D	-0.0473166184580799	0.39722	2.347077	0.200785030940442	0.49890	3.187054	0.999998817167295	0.74766	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	7.964000	0.87485	9.970000	0.82855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.135	0.93407	773	0.48803	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	698.83	56	chr3	19975621	.	G	C	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.108;DP=233;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.311;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	5	0	1	0
chr3	20001515	20001515	C	T	exonic	PP2D1	.	nonsynonymous SNV	PP2D1:NM_001252657:exon2:c.G605A:p.C202Y	.	438	1055	28	1	0	30	0.0140187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	0.00339457	0.0108	0	0.0052	0	0	0.0033	0.0109	0.0184	0.0013195	204	154602	rs201179163	0.0019	0.0018	0.0014	0.0025	0.0176	0.0019	0.0019	0.0168	0.0165	0.0002	0.0013	0.0058	5.598e-05	8.837e-05	0.0083	0.0008	0.0026	0.0176	0.0015	0.0015	0.0014	0.0017	0.0182	0.0014	0.0013	0.0152	0.0140	0.0002	0	0.0006	0.0072	0.0002	0	0.0068	0.0014	0.0043	0.0182	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999209	0.46326	D	2.365	0.68172	M	3.03	0.08898	T	-6.7	0.92476	D	0.595	0.61426	-1.1193	0.02376	T	0.086	0.33326	T	9	0.008970618	0.00203	T	.	.	.	0.267	0.58126	.	.	0.202086224978	0.19791	0.7337626627760373	0.73321	.	.	0.710023999214	0.68596	T	0.026925	0.19825	T	-0.310113	0.07739	T	-0.203953	0.54271	T	0.101572254474112	0.12529	T	0.759024	0.38317	T	0.81179506	0.84672	0.7956814	0.87999	0.81179506	0.84674	0.7956814	0.88000	-7.091	0.54696	T	.	.	0.482	0.63773	A	.	.	3.600865	0.50864	23.0	0.98705652240780417	0.44967	0.93095	0.57315	D	AEFI	0.591743	0.58772	D	0.513139601895966	0.67865	5.139165	0.470324312323993	0.66033	4.899592	0.999994891206871	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	3.003000	0.49192	4.683000	0.44330	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:1.0:0.0:0.0	19.854	0.96746	701	0.57775	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1809.83	33	chr3	20001515	.	C	T	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.346;DP=391;ExcessHet=0;FS=13.354;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.059;SOR=0.469	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1820,0,2130	5	0	1	0
chr3	28340533	28340533	A	G	exonic	AZI2	.	nonsynonymous SNV	AZI2:NM_001134432:exon2:c.T85C:p.Y29H,AZI2:NM_001134433:exon2:c.T85C:p.Y29H,AZI2:NM_022461:exon2:c.T85C:p.Y29H	.	438	1077	7	0	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0040293105995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.40573	T	0.111	0.37173	T	0.883	0.61523	P	0.541	0.58350	P	0.000069	0.52346	D	0.208502	0.995003	0.42504	D	2.395	0.69210	M	.	.	.	-1.48	0.51157	N	0.611	0.66101	-0.6906	0.60880	T	0.261	0.63219	T	9	0.39341548	0.55055	T	0.004029	0.09587	T	0.129	0.35316	0.432	0.48171	0.337621943819	0.33374	0.18296857397605543	0.18215	0.638007219526	0.57542	0.559342741966	0.47175	T	0.075866	0.36999	T	0.0259208	0.55179	T	-0.200543	0.54595	T	0.942075669765472	0.61592	D	0.912209	0.76932	D	0.15031867	0.34226	0.13880904	0.33138	0.15031867	0.34226	0.13880904	0.33138	-6.676	0.52500	T	.	.	0.178	0.43666	B	.;.;.;.;.;.	.;.;.;.;.;.	3.931320	0.57465	23.9	0.99778898718080189	0.86606	0.97609	0.75878	D	AEBI	0.825643	0.74529	D	0.542911005625502	0.69652	5.387457	0.601067350568294	0.75017	6.236786	0.999999999968039	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	6.354000	0.72981	8.161000	0.76737	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.272	0.82451	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	896.83	33	chr3	28340533	.	A	G	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=248;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.967;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	5	0	1	0
chr3	31990403	31990403	G	A	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.G1324A:p.V442I	.	406	1093	22	1	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0009	0.0393371	0.0148	0.0013	0.0068	0.1224	0.0079	0.0013	0.0100	0.0331	0.013538	2093	154602	rs79295539	0.0056	0.0056	0.0048	0.0063	0.1019	0.0054	0.0054	0.0992	0.0981	0.0010	0.0055	0	0.1019	0.0083	0.0087	0.0006	0.0084	0.0283	0.0055	0.0056	0.0043	0.0066	0.0923	0.0051	0.0050	0.0849	0.0820	0.0010	0.0022	0.0050	0	0.0923	0.0081	0.0103	0.0008	0.0082	0.0279	0.126	0.27194	T	0.259	0.23097	T	0.956	0.54666	P	0.939	0.67449	D	.	.	.	.	1	0.08975	P	0.49	0.13296	N	2.17	0.19020	T	-0.75	0.21003	N	0.005	0.00034	-1.0590	0.12007	T	0.001	0.00318	T	6	0.002504468	0.00038	T	.	.	.	0.025	0.05312	.	.	.	.	0.014765551030179415	0.01433	0.144387688307	0.16313	0.29153418541	0.09145	T	0.003645	0.03050	T	-0.753551	0.00017	T	-0.768347	0.02823	T	0.0157454019745825	0.00365	T	0.454055	0.12934	T	0.07960745	0.18197	0.07611527	0.16827	0.07960745	0.18197	0.07611527	0.16827	-3.775	0.20432	T	.	.	0.109	0.20896	B	.	.	1.030601	0.14106	10.68	0.94573514009708215	0.25110	0.00465	0.02234	N	AEFBCI	0.015932	0.00328	N	-0.548754751026196	0.20522	1.082491	-0.838316985830647	0.13568	0.7046228	0.810192789762887	0.24341	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.504000	0.06456	-9.826000	0.00772	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014799	0.005051	0.008152	0.024590	0.000000	0.000000	0.009146	0.037879	0.08333	1508.83	34	chr3	31990403	.	G	A	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=548;ExcessHet=0;FS=3.899;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.719;QD=8.67;ReadPosRankSum=2.2;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1279:.	5	0	1	0
chr3	31990420	31990503	TCATACTGGAGAGAAACCTTACAAGTGTAATGAGTGTGGCAAGACCTTCCATCACAATTCAGCCCTTGTAATTCATAAGGCAAT	-	exonic	ZNF860	.	nonframeshift deletion	ZNF860:NM_001137674:exon2:c.1341_1424del:p.H464_F491del	.	408	1095	18	1	0	20	0.00904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155	0.0248	0.0075	0.0997	0.0077	0.0014	0.0078	0.0320	0.0002305	6	26028	.	0.0038	0.0044	0.0033	0.0042	0.0571	0.0037	0.0037	0.0551	0.0543	0.0020	0.0039	0	0.0571	0.0052	0.0069	0.0005	0.0061	0.0210	0.0043	0.0051	0.0033	0.0053	0.0583	0.0040	0.0039	0.0529	0.0507	0.0009	0.0033	0.0038	0.0003	0.0583	0.0063	0.0103	0.0008	0.0076	0.0247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1210.79	34	chr3	31990419	.	CTCATACTGGAGAGAAACCTTACAAGTGTAATGAGTGTGGCAAGACCTTCCATCACAATTCAGCCCTTGTAATTCATAAGGCAAT	C	1210.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.115;DP=606;ExcessHet=0;FS=8.014;MLEAC=1;MLEAF=0.083;MQ=59.7;MQRankSum=-1.529;QD=5.31;ReadPosRankSum=-0.835;SOR=1.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1279:.	5	0	1	0
chr3	33152942	33152942	C	G	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon5:c.G1690C:p.G564R	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0194888475598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.053	0.47336	T	1.0	0.90584	D	0.982	0.75477	D	0.000018	0.62929	D	0.114891	0.999814	0.49394	D	2.34	0.67151	M	3.01	0.09075	T	-4.55	0.78553	D	0.398	0.43899	-1.1548	0.00889	T	0.086	0.33466	T	10	0.33394784	0.50577	T	0.019489	0.41866	T	0.249	0.55752	0.393	0.41770	0.407632638399	0.40377	0.6338682673309226	0.63320	0.328582784647	0.34964	0.478662967682	0.35873	T	0.156559	0.49878	T	-0.0522702	0.44103	T	-0.312859	0.43351	T	0.906071960926056	0.55999	D	0.732627	0.34815	T	0.22643429	0.45325	0.22053646	0.46833	0.22643429	0.45325	0.22053646	0.46832	-3.445	0.15670	T	.	.	0.161	0.35519	B	.	.	3.581139	0.50486	22.9	0.99863618974007828	0.94184	0.98182	0.80315	D	AEFDBI	0.635920	0.61526	D	0.600758237481079	0.73223	5.931139	0.5251877066856	0.69689	5.396458	0.999999999808805	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.725000	0.68156	7.706000	0.66547	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	18.234	0.89879	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1216.83	39	chr3	33152942	.	C	G	1216.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.98;DP=298;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.74;SOR=1.073	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	5	0	1	0
chr3	37417354	37417354	C	T	exonic	C3orf35	.	stopgain	C3orf35:NM_178344:exon4:c.C88T:p.R30X,C3orf35:NM_001302831:exon5:c.C88T:p.R30X,C3orf35:NM_001302832:exon5:c.C88T:p.R30X,C3orf35:NM_178339:exon5:c.C88T:p.R30X,C3orf35:NM_178342:exon5:c.C88T:p.R30X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	9.942e-05	0.0002	0.0002	0	0	7.493e-05	0	0.0002	0.0001164	18	154602	rs199499167	0.0001	8.824e-05	9.133e-05	0.0001	0.0020	8.923e-05	8.38e-05	0.0010	0.0008	0.0006	0.0001	0	0	0	0.0020	6.814e-05	0.0003	0.0002	0.0001	0.0001	0.0001	9.403e-05	0.0002	7.575e-05	6.28e-05	9.548e-05	6.95e-05	0.0002	0	6.536e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1539.83	118	chr3	37417354	.	C	T	1539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.701;DP=299;ExcessHet=0;FS=0.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.98;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	5	0	1	0
chr3	37743963	37743963	G	A	exonic	ITGA9	.	nonsynonymous SNV	ITGA9:NM_002207:exon22:c.G2362A:p.V788M	.	420	1088	12	2	0	16	0.00729927	.	.	.	3199366	ITGA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0314228714166	0.0041	0.00159744	0.0027	0.0003	0.0037	0	0.0002	0.0036	0.0066	0.0019	0.002652	410	154602	rs140716372	0.0037	0.0037	0.0037	0.0036	0.0087	0.0036	0.0036	0.0068	0.0061	0.0007	0.0044	0.0015	0	0.0002	0.0087	0.0042	0.0030	0.0022	0.0027	0.0027	0.0030	0.0024	0.0045	0.0025	0.0024	0.0040	0.0039	0.0007	0	0.0037	0.0009	0.0002	0.0003	0.0034	0.0045	0.0057	0.0021	0.097	0.30943	T	0.094	0.39645	T	0.947	0.53479	P	0.671	0.53151	P	0.000047	0.53742	D	0.127086	0.997496	0.43934	D	1.79	0.46772	L	0.6	0.53731	T	-0.91	0.24460	N	0.332	0.37301	-0.8723	0.50356	T	0.139	0.45678	T	10	0.009117633	0.00206	T	0.031423	0.53513	D	0.119	0.33137	.	.	0.43912465853	0.43530	0.48101672538957085	0.48021	0.327012137935	0.34843	0.416602492332	0.27370	T	0.229937	0.59588	T	-0.464998	0.00914	T	-0.439209	0.28898	T	0.0162913265801965	0.00400	T	0.806719	0.45571	T	0.045280676	0.07385	0.06301902	0.12420	0.045280676	0.07385	0.06301902	0.12420	-7.278	0.56038	T	.	.	0.135	0.29311	B	.	.	3.166437	0.42919	21.6	0.99749874202418909	0.84152	0.77544	0.38139	D	AEFDBI	0.196696	0.32365	N	0.0702798620285177	0.45080	2.770615	0.0384267458973693	0.41516	2.495504	0.0330268813070643	0.14085	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.478617	0.07155	0	.	.	5.52	2.75	0.31439	4.111000	0.57577	7.264000	0.57969	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.2189:0.0:0.7811:0.0	11.167	0.47776	744	0.52588	Integrin alpha-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.009511	0.011696	0.000000	0.008621	0.006098	0.007576	0.08333	822.83	35	chr3	37743963	.	G	A	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.023;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1486	5	0	1	0
chr3	37995774	37995774	A	T	exonic	VILL	.	nonsynonymous SNV	VILL:NM_001385039:exon5:c.A377T:p.H126L,VILL:NM_015873:exon5:c.A377T:p.H126L,VILL:NM_001385038:exon6:c.A377T:p.H126L	.	426	1091	4	1	0	6	0.00274223	.	.	.	2431429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0504856113366	0.0002	.	0.0005	0	0.0003	0	0.0002	0.0007	0	0.0004	0.0004463	69	154602	rs139825675	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0.0003	0	0.0001	0.0012	0.0006	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0001	0.0003	0	0	0	0.0007	0.0005	0.0008	0.043	0.48642	D	0.043	0.49942	D	0.048	0.22112	B	0.062	0.26930	B	0.000064	0.52346	N	0.196977	1	0.81001	D	2.95	0.84923	M	1.81	0.25182	T	-9.6	0.98726	D	0.406	0.44857	-0.9362	0.43211	T	0.099	0.36805	T	10	0.12157744	0.23050	T	0.050486	0.64262	D	0.157	0.40909	.	.	0.101711395817	0.09552	0.7157881439821144	0.71521	0.259309898795	0.28487	0.505516648293	0.39597	T	0.487199	0.81336	T	-0.382251	0.03016	T	-0.395967	0.33855	T	0.28255096077919	0.24278	T	0.760924	0.38541	T	0.393931	0.60309	0.2976285	0.55796	0.393931	0.60310	0.2976285	0.55795	-9.052	0.68032	D	.	.	0.088	0.35643	B	.;.;.;.	.;.;.;.	2.606185	0.33840	19.46	0.9216910557329302	0.21533	0.91865	0.54431	D	AEFDGBHCI	0.402306	0.47645	N	-0.249957272806029	0.31105	1.740857	-0.299824821464707	0.28105	1.564411	0.999999774972946	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.9	2.35	0.28166	5.198000	0.64983	3.965000	0.40779	0.691000	0.84096	1.000000	0.71638	0.996000	0.32793	0.821000	0.38685	0.7138:0.0:0.0:0.2862	9.681	0.39237	653	0.62661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.08333	1155.83	33	chr3	37995774	.	A	T	1155.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=305;ExcessHet=0;FS=0.666;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.122;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	5	0	1	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.08333	1750.83	131	chr3	38122376	.	C	T	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.341;DP=311;ExcessHet=0;FS=6.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.714;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	5	0	1	0
chr3	38587413	38587413	C	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon15:c.G2423A:p.R808H,SCN5A:NM_001099404:exon15:c.G2423A:p.R808H,SCN5A:NM_001099405:exon15:c.G2423A:p.R808H,SCN5A:NM_001160160:exon15:c.G2423A:p.R808H,SCN5A:NM_001160161:exon15:c.G2423A:p.R808H,SCN5A:NM_001354701:exon15:c.G2423A:p.R808H,SCN5A:NM_198056:exon15:c.G2423A:p.R808H	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	189214	Cardiac_arrhythmia|not_provided|Long_QT_syndrome|Brugada_syndrome_1	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.912283223832	.	.	1.777e-05	0	0	0	0.0002	1.573e-05	0	0	1.94e-05	3	154602	rs199473160	3.424e-06	3.42e-06	5.449e-06	1.377e-06	2.52e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.52e-05	1.874e-05	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.70582	D	0.99	0.77913	D	0.621	0.63489	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.31	0.98302	H	-5.03	0.98578	D	-4.95	0.81910	D	0.993	0.99863	1.012	0.97389	D	0.984	0.99498	D	10	0.9790485	0.97809	D	0.912283	0.99347	D	0.961	0.99405	0.848	0.95084	0.99336309932	0.99328	0.9669681357266546	0.96684	1.12857777397	0.78526	0.835788011551	0.87451	D	0.984752	0.99899	D	0.573955	0.96679	D	0.58667	0.96624	D	0.99966561794281	0.98390	D	0.963604	0.87317	D	0.9025011	0.91608	0.81818014	0.89422	0.9025011	0.91609	0.81818014	0.89423	-8.93	0.67717	D	0.7652141902624314	0.84669	0.670	0.76938	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.416506	0.90641	31	0.99948957596769383	0.99931	0.99709	0.98858	D	AEFDBI	0.974083	0.99536	D	0.92768053365571	0.93048	11.78913	0.807495206150772	0.90312	10.34937	0.99999999999829	0.74766	0.626454	0.40138	0	0.59043	0.45803	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	4.29	4.29	0.50359	7.905000	0.86479	7.533000	0.59948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.258	0.86949	563	0.71062	Ion transport domain;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1052.83	33	chr3	38587413	.	C	T	1052.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.121;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.599;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	5	0	1	0
chr3	40189855	40189855	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon8:c.G496A:p.G166R,MYRIP:NM_001284425:exon9:c.G790A:p.G264R,MYRIP:NM_001284423:exon10:c.G1057A:p.G353R,MYRIP:NM_001284424:exon10:c.G1057A:p.G353R,MYRIP:NM_015460:exon10:c.G1057A:p.G353R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.0505735074257	0.0002	.	0.0008	0	0.0002	0	0	0.0004	0	0.0041	0.0006598	102	154602	rs151142713	0.0004	0.0004	0.0003	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	0	8.957e-05	0	2.52e-05	3.759e-05	0.0066	0.0002	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0	0	0.0002	0	0	0.0002	0	0.0023	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.054221	0.999707	0.48408	D	2.72	0.79541	M	1.56	0.29602	T	-4.35	0.79571	D	0.674	0.79792	-0.9821	0.34515	T	0.146	0.47038	T	9	0.022714823	0.00575	T	0.050574	0.64299	D	0.333	0.65522	0.465	0.53566	0.550717487069	0.54728	0.34709370442562215	0.34623	0.569308612202	0.53113	0.709820210934	0.68567	T	0.209256	0.56943	T	-0.363599	0.03930	T	-0.297797	0.44958	T	0.169856835708151	0.18571	T	0.90001	0.65919	D	0.591905	0.72254	0.5492331	0.73939	0.591905	0.72255	0.5492331	0.73939	-9.842	0.72960	D	.	.	0.581	0.74739	P	.;.;.;.;.	.;.;.;.;.	4.185683	0.63049	24.5	0.99867280516764223	0.94547	0.97607	0.75865	D	AEFBI	0.904244	0.85429	D	0.357511716201636	0.59138	4.090716	0.317366859466169	0.56559	3.819485	0.992772833971725	0.32963	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.94	4.13	0.47661	7.575000	0.81761	11.742000	0.95215	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0747:0.0:0.7831:0.1421	9.494	0.38141	839	0.37672	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.25	6461.0	33	chr3	40189855	.	G	A	6461.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.17;DP=447;ExcessHet=0;FS=0.977;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.472;SOR=0.761	GT:AD:DP:GQ:PL	0/1:82,65:147:99:1659,0,1984	4	1	1	0
chr3	40251911	40251911	C	T	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon14:c.C1898T:p.T633I,MYRIP:NM_001284424:exon15:c.C2264T:p.T755I,MYRIP:NM_001284425:exon15:c.C2192T:p.T731I,MYRIP:NM_001284423:exon16:c.C2459T:p.T820I,MYRIP:NM_015460:exon16:c.C2459T:p.T820I	.	.	.	.	.	.	.	.	.	.	.	2334866	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.030358099701	0.0002	.	0.0004	9.639e-05	0	0	0.0002	0.0007	0.0011	6.071e-05	0.0003493	54	154602	rs200695832	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	2.989e-05	0	0.0050	0	5.616e-05	0.0007	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.408e-05	0	0	0.0043	0	0.0002	0	0.0002	0	0.0002	0.011	0.55530	D	0.152	0.56192	T	0.939	0.52645	P	0.602	0.50862	P	0.036655	0.24496	N	0.366435	1	0.08975	N	2.24	0.63355	M	1.8	0.25344	T	-1.48	0.38734	N	0.279	0.35088	-1.0764	0.08063	T	0.069	0.28313	T	9	0.0058135986	0.00130	T	0.030358	0.52685	D	0.078	0.22779	.	.	0.413761986042	0.40994	0.3055684307077213	0.30469	0.297951249375	0.32171	0.374818205833	0.21520	T	0.018019	0.14600	T	-0.360525	0.04100	T	-0.456709	0.26959	T	0.2642542719841	0.23500	T	0.870213	0.60367	D	0.095432475	0.22459	0.08646066	0.20033	0.095432475	0.22459	0.08646066	0.20033	-4.032	0.29800	T	.	.	0.157	0.43517	B	.;.;.;.;.	.;.;.;.;.	3.176846	0.43108	21.7	0.9975127068479851	0.84305	0.13558	0.17924	N	AEFBI	0.268531	0.38500	N	-0.193437466759167	0.33407	1.894931	-0.288952555659863	0.28460	1.58711	0.00696120235995884	0.11352	0.706548	0.73137	0	0.610034	0.51514	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.97	1.79	0.23992	2.562000	0.45576	2.107000	0.30637	0.599000	0.40250	0.019000	0.19563	0.009000	0.19889	0.946000	0.48989	0.3949:0.4773:0.1279:0.0	9.815	0.40012	698	0.58074	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	964.83	103	chr3	40251911	.	C	T	964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.011;DP=286;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-0.487;SOR=0.551	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I	Nemaline myopathy 8, autosomal recessive	418	1070	32	2	0	36	0.0165441	.	.	.	251129	not_provided|Nemaline_myopathy_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	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	0.007056	0.000000	0.005435	0.011696	0.000000	0.000000	0.009202	0.015152	0.08333	569.83	36	chr3	42690989	.	C	A	569.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.465;DP=227;ExcessHet=0;FS=2.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.74;SOR=0.368	GT:AD:DP:GQ:PL	0/1:26,22:48:99:580,0,765	5	0	1	0
chr3	42693208	42693208	G	A	exonic	HHATL	.	nonsynonymous SNV	HHATL:NM_020707:exon11:c.C1259T:p.S420L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0974498220062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437602759	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.033	0.53072	D	0.994	0.66517	D	0.882	0.62632	P	0.001762	0.38052	N	0.222920	0.99997	0.53665	D	2.11	0.58565	M	2.01	0.21291	T	-3.79	0.71639	D	0.699	0.70351	-0.9225	0.45210	T	0.124	0.42778	T	10	0.81322	0.80585	D	0.09745	0.76775	D	0.242	0.54781	0.474	0.55020	0.57068417637	0.56733	0.7414722800230792	0.74093	0.414849778158	0.42153	0.628779888153	0.56971	T	0.183014	0.53521	T	-0.0886688	0.38296	T	-0.365143	0.37457	T	0.984270870685577	0.75639	D	0.863014	0.55864	D	0.3464526	0.56789	0.2822838	0.54215	0.3464526	0.56789	0.2822838	0.54214	-10.845	0.78801	D	.	.	0.303	0.53340	B	.;.	.;.	5.006816	0.83121	28.0	0.99877732904709393	0.95410	0.99347	0.94827	D	AEFDBI	0.971105	0.99324	D	0.500447484227158	0.67115	5.039027	0.397067176376335	0.61383	4.33773	0.99999999742562	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	7.319000	0.78342	9.825000	0.81827	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	15.005	0.71158	377	0.83897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	632.83	36	chr3	42693208	.	G	A	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.941;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.176;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	5	0	1	0
chr3	44243633	44243633	G	C	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.G1127C:p.S376T	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.014129511068	.	0.00139776	0.0018	0	0.0033	0	0	0	0	0.0045	0.0003234	50	154602	rs374160634	0.0003	0.0003	0.0002	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	0	0.0007	0	0	0	0.0012	3.151e-05	0.0002	0.0038	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	0.0006	0	0	0	0	0.0001	0.0005	0.0029	0.18	0.21968	T	0.68	0.06109	T	0.728	0.42542	P	0.168	0.35187	B	0.175482	0.17250	N	0.594843	1	0.08975	N	1.32	0.33002	L	2.82	0.10871	T	-0.53	0.16393	N	0.082	0.05799	-0.9715	0.36883	T	0.014	0.05753	T	10	0.0030044317	0.00049	T	0.01413	0.34038	T	0.035	0.08770	0.243	0.17677	0.0138822411134	0.00435	0.06942426031573733	0.06880	.	.	0.251745015383	0.03954	T	0.006972	0.06393	T	-0.695129	0.00039	T	-0.773387	0.02659	T	0.029317983234847	0.01886	T	0.374563	0.08910	T	0.042795133	0.06557	0.04953928	0.07593	0.042795133	0.06556	0.04953928	0.07592	-3.771	0.20372	T	.	.	0.082	0.08705	B	.	.	0.849338	0.12215	8.759	0.72225451772087879	0.09899	0.04333	0.09893	N	AEFDBI	0.044881	0.07275	N	-0.787455676827544	0.13636	0.673195	-0.853537702642384	0.13203	0.683625	0.0193597228147085	0.13154	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.41	-0.535	0.11286	-0.323000	0.08039	0.438000	0.18395	-0.135000	0.12811	0.000000	0.06391	0.919000	0.28284	0.953000	0.50222	0.3837:0.1437:0.4726:0.0	5.471	0.15965	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001238	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.013158	0.08333	1832.83	40	chr3	44243633	.	G	C	1832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.512;SOR=0.638	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	0
chr3	44243954	44243954	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1448G:p.Q483R	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0028	0.00579073	0.0037	0.0089	0.0044	0	0	0.0022	0.0039	0.0051	0.0009961	154	154602	rs17076541	0.0013	0.0013	0.0012	0.0014	0.0298	0.0013	0.0012	0.0261	0.0247	0.0105	0.0023	0.0023	0	0	0.0298	0.0007	0.0029	0.0032	0.0035	0.0035	0.0033	0.0036	0.0088	0.0032	0.0031	0.0081	0.0078	0.0088	0	0.0025	0.0017	0	0	0.0170	0.0012	0.0043	0.0043	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.911959	0.07421	N	1.038110	1	0.08975	N	-0.205	0.04094	N	3.14	0.07920	T	1.27	0.00985	N	0.047	0.01911	-0.9259	0.44730	T	0.008	0.02638	T	10	0.0025490224	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0482279557977	0.04254	0.21658741482236482	0.21574	.	.	0.221319049597	0.01388	T	8.32E-4	0.00412	T	-0.730454	0.00024	T	-0.814062	0.01576	T	0.0055632490905544	0.00061	T	0.524548	0.17205	T	0.039508287	0.05469	0.0520892	0.08514	0.039508287	0.05469	0.0520892	0.08514	-3.388	0.14896	T	.	.	0.067	0.02399	B	.	.	-0.212529	0.03027	0.463	0.32374395834308728	0.01872	0.01430	0.04814	N	AEFDBI	0.030791	0.03167	N	-1.35093760866715	0.03115	0.1386367	-1.27041351859735	0.04836	0.2290646	0.00976757613190134	0.11910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	-3.29	0.04706	-0.026000	0.12340	-0.162000	0.11313	-0.208000	0.08445	0.426000	0.26377	0.000000	0.08366	0.843000	0.39806	0.4055:0.0:0.5945:0.0	13.357	0.60075	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024752	0.021277	0.068966	0.057522	0.000000	0.000000	0.005882	0.000000	0.08333	1413.83	40	chr3	44243954	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.12;DP=352;ExcessHet=0;FS=7.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.379;SOR=1.173	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1424,0,2098	5	0	1	0
chr3	44244892	44244892	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A2386G:p.K796E	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0083	0.0109824	0.0057	0.0281	0.0052	0	0	0.0024	0.0042	0.0051	0.0015524	240	154602	rs17076545	0.0018	0.0018	0.0018	0.0019	0.0302	0.0018	0.0018	0.0265	0.0251	0.0266	0.0034	0.0023	0	0	0.0302	0.0008	0.0042	0.0032	0.0085	0.0085	0.0087	0.0082	0.0259	0.0081	0.0079	0.0246	0.0241	0.0259	0	0.0043	0.0017	0	0	0.0204	0.0013	0.0099	0.0044	0.008	0.58626	D	0.0	0.92824	D	0.763	0.43659	P	0.242	0.38699	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	2.68	0.12371	T	-1.55	0.37566	N	0.255	0.28849	-1.0370	0.18233	T	0.009	0.03011	T	9	0.003294468	0.00057	T	.	.	.	0.078	0.22779	.	.	0.0716867268079	0.06686	0.2982062153470853	0.29733	.	.	0.336203336716	0.15869	T	0.011622	0.10346	T	-0.586762	0.00175	T	-0.593989	0.13322	T	0.0180266410121894	0.00526	T	0.639636	0.25265	T	0.20178348	0.42200	0.18954335	0.42307	0.20178348	0.42200	0.18954335	0.42306	-3.889	0.22137	T	.	.	0.083	0.09385	B	.	.	1.950725	0.24781	16.52	0.99123435050489805	0.53063	0.11872	0.16915	N	AEDBI	0.054050	0.09793	N	-0.191757305705605	0.33477	1.899678	-0.177528634749536	0.32366	1.840599	0.954957825442561	0.28161	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.74	4.6	0.56512	1.477000	0.35039	5.575000	0.48953	0.691000	0.84096	0.006000	0.17386	1.000000	0.68203	0.814000	0.38357	0.8578:0.0:0.1422:0.0	8.843	0.34314	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030380	0.026596	0.090909	0.057522	0.000000	0.000000	0.011765	0.000000	0.08333	1867.83	40	chr3	44244892	.	A	G	1867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=337;ExcessHet=0;FS=3.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.77;SOR=0.618	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1878,0,1997	5	0	1	0
chr3	44421810	44421810	A	T	exonic	C3orf86	.	startloss	C3orf86:NM_001351480:exon2:c.T2A:p.M1?,C3orf86:NM_001375977:exon2:c.T2A:p.M1?,C3orf86:NM_001351479:exon3:c.T2A:p.M1?,C3orf86:NM_001375995:exon3:c.T2A:p.M1?,C3orf86:NM_001375997:exon3:c.T2A:p.M1?,C3orf86:NM_001375996:exon4:c.T2A:p.M1?	.	1009	509	4	0	0	4	0.00391389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0036115	94	26028	rs112666989	0	8.111e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0052	0.0052	0.0050	0.0054	0.0144	0.0049	0.0048	0.0134	0.0130	0.0144	0	0.0032	0.0017	0	0	0.0204	0.0014	0.0071	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1516.83	33	chr3	44421810	.	A	T	1516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=296;ExcessHet=0;FS=5.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.554;SOR=0.546	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1527,0,1221	5	0	1	0
chr3	44734611	44734611	A	C	exonic	ZNF501	.	nonsynonymous SNV	ZNF501:NM_001258280:exon3:c.A190C:p.N64H,ZNF501:NM_145044:exon3:c.A190C:p.N64H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00245316927158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.63	0.07196	T	0.061	0.23190	B	0.012	0.16012	B	.	.	.	.	0.999639	0.20820	N	0.94	0.23649	L	1.24	0.36691	T	-1.27	0.31981	N	0.215	0.24010	-1.0122	0.26228	T	0.035	0.15030	T	9	0.04948926	0.04545	T	0.002453	0.04840	T	0.049	0.13647	0.322	0.30226	0.163833314356	0.15978	0.014837697479732686	0.01440	0.0376400528977	0.03990	0.464997470379	0.33994	T	0.007784	0.07165	T	-0.323755	0.06595	T	-0.702828	0.05672	T	0.117646973983196	0.14197	T	.	.	.	0.069912195	0.15355	0.08145091	0.18512	0.069912195	0.15355	0.08145091	0.18512	-2.354	0.04859	T	.	.	0.265	0.50204	B	.;.	.;.	2.183138	0.27831	17.59	0.98572149444059765	0.43128	0.01823	0.05666	N	AEFBHCI	0.064560	0.12542	N	-0.893597451941599	0.10994	0.528213	-0.803120552172903	0.14420	0.753353	0.00271968142547083	0.09654	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.07	1.91	0.24841	-0.777000	0.04775	1.545000	0.27254	0.756000	0.94297	0.000000	0.06391	0.002000	0.18203	1.000000	0.97212	0.8852:0.0:0.1148:0.0	7.158	0.24823	323	0.86843	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	992.83	39	chr3	44734611	.	A	C	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.598;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=1.38;SOR=0.779	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr3	45491562	45491562	A	-	exonic	LARS2	.	frameshift deletion	LARS2:NM_001368263:exon12:c.1285delA:p.A430Pfs*10,LARS2:NM_015340:exon13:c.1285delA:p.A430Pfs*10	Perrault syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2013754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	825.79	35	chr3	45491561	.	GA	G	825.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.324;DP=224;ExcessHet=0;FS=3.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=1.57;SOR=1.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1210	5	0	1	0
chr3	45513187	45513187	C	T	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon15:c.C1813T:p.R605C,LARS2:NM_015340:exon16:c.C1813T:p.R605C	Perrault syndrome 4, Autosomal recessive	423	1097	2	0	0	2	0.000910747	.	.	.	1243992	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.666	0.111134762295	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001682	26	154602	rs147745374	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0006	0.0004	5.975e-05	0.0005	0.0005	0.0001	0	0.0012	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.406e-05	0	0.0003	0.0006	0.0002	0	0.0068	0.0002	0.0019	0.0002	0.006	0.65419	D	0.002	0.79402	D	0.999	0.77913	D	0.896	0.63555	P	0.000075	0.52346	D	0.126553	0.999992	0.58761	D	3.04	0.86592	M	-1.07	0.76948	T	-5.49	0.87611	D	0.725	0.72746	0.305	0.87639	D	0.605	0.85991	D	10	0.58040166	0.65817	D	0.111135	0.78880	D	0.666	0.87576	.	.	0.8718642613	0.87062	.	.	0.956921499825	0.72854	0.474689006805	0.35327	T	0.636873	0.88816	D	-0.109888	0.34786	T	-0.0676621	0.65792	T	0.326658754964131	0.26090	T	0.912309	0.68816	D	0.30190182	0.53075	0.2526774	0.50901	0.30190182	0.53075	0.2526774	0.50900	-6.594	0.51007	T	.	.	0.127	0.27069	B	.;.;.;.;.	.;.;.;.;.	5.435656	0.90871	32	0.99906691894109745	0.97726	0.93946	0.59652	D	AEFDBI	0.685572	0.64753	D	0.710078043147858	0.80293	7.262389	0.648572214046727	0.78503	6.889684	0.999974613331022	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	4.23	0.49319	3.051000	0.49576	3.855000	0.40108	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.3511:0.6489:0.0:0.0	11.482	0.49581	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	664.83	34	chr3	45513187	.	C	T	664.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.946;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.64;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	5	0	1	0
chr3	45595726	45595726	G	A	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.G847A:p.G283R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0436449696286	.	.	8.263e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs749761214	1.3e-05	1.3e-05	1.77e-05	8.251e-06	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	1.876e-05	0	1.529e-05	1.656e-05	0	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	0.004	0.65419	D	0.306	0.23776	T	0.89	0.48942	P	0.207	0.37187	B	0.486624	0.05012	N	1.306860	0.99912	0.21598	N	1.845	0.48678	L	0.35	0.58029	T	-2.56	0.55339	D	0.346	0.48596	-0.8646	0.50930	T	0.128	0.43544	T	10	0.2468836	0.41960	T	0.043645	0.61090	D	0.105	0.29889	0.297	0.26202	0.636843794314	0.63386	0.20095916356719698	0.20012	0.609113261058	0.55654	0.436773687601	0.30137	T	0.23239	0.59894	T	-0.0901516	0.38052	T	-0.351787	0.39000	T	0.830394268035889	0.48561	D	0.622538	0.23960	T	0.15543929	0.35131	0.19518156	0.43180	0.15543929	0.35131	0.19518156	0.43179	-3.228	0.12826	T	.	.	0.243	0.47762	B	.;.	.;.	4.354279	0.66909	25.0	0.99896007940269582	0.96895	0.69734	0.34306	D	AEFDGBCI	0.274572	0.38973	N	0.112380482910732	0.47040	2.935346	0.162499085963009	0.47808	3.005531	0.999999998997676	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.92	4.92	0.64147	3.484000	0.52965	8.549000	0.77521	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.063000	0.16184	0.0:0.0:1.0:0.0	16.340	0.82912	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1365.83	37	chr3	45595726	.	G	A	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=330;ExcessHet=0;FS=2.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.554;SOR=0.769	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	5	0	1	0
chr3	46676321	46676321	C	T	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.G2110A:p.G704R,ALS2CL:NM_147129:exon19:c.G2110A:p.G704R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2337404	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0467636966519	.	0.000399361	0.0002	0	8.642e-05	0	0	3.001e-05	0	0.0013	0.0001746	27	154602	rs565114772	0.0001	0.0001	6.535e-05	0.0002	0.0013	9.941e-05	9.35e-05	0.0011	0.0010	0	2.236e-05	0	0	0	0.0007	3.417e-05	0.0002	0.0013	9.859e-05	0.0001	8.998e-05	0.0001	0.0019	6.008e-05	4.881e-05	0.0010	0.0007	4.82e-05	0	6.539e-05	0	0.0002	0	0	2.942e-05	0	0.0019	0.098	0.30800	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999983	0.58761	D	2.7	0.79018	M	1.57	0.29342	T	-4.7	0.79829	D	0.885	0.88577	-0.8167	0.54140	T	0.182	0.52965	T	10	0.2534304	0.42710	T	0.046764	0.62611	D	0.347	0.66863	0.489	0.57415	0.317667799068	0.31381	0.5775521865056367	0.57684	0.607010650221	0.55521	0.64257389307	0.58930	T	0.319884	0.69112	T	-0.0770493	0.40192	T	0.0760144	0.75311	D	0.440874129533768	0.30461	T	0.939106	0.77081	D	0.38150588	0.59425	0.34192067	0.59925	0.38150588	0.59425	0.34192067	0.59924	-9.256	0.69330	D	.	.	0.313	0.54761	B	.;.	.;.	4.770825	0.77233	26.7	0.99932549043374774	0.99439	0.98397	0.82359	D	AEFDBI	0.783796	0.71467	D	0.629178828234893	0.75027	6.234048	0.555565600921466	0.71786	5.708141	0.999999999995891	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.85	4.85	0.62375	6.638000	0.74166	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	15.499	0.75417	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	908.83	41	chr3	46676321	.	C	T	908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.3;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr3	46688207	46688207	C	A	exonic	ALS2CL	.	stopgain	ALS2CL:NM_001190707:exon3:c.G193T:p.E65X,ALS2CL:NM_147129:exon3:c.G193T:p.E65X	.	423	1082	15	2	0	19	0.00870362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.00159744	0.0015	0.0003	0.0012	0	0	0.0017	0.0079	0.0032	0.00152	235	154602	rs139496961	0.0019	0.0019	0.0017	0.0020	0.0104	0.0018	0.0018	0.0083	0.0075	0.0003	0.0017	0.0012	0	5.73e-05	0.0104	0.0019	0.0022	0.0029	0.0014	0.0014	0.0013	0.0016	0.0039	0.0013	0.0012	0.0026	0.0021	0.0003	0	0.0011	0.0009	0	9.413e-05	0.0102	0.0022	0.0024	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	0.001327	0.39379	N	0.110650	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160521	0.70249	D	0.455064	0.93703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	6.794952	0.95745	35	0.99494895906249137	0.67687	0.27470	0.23286	N	AEFDBI	0.114883	0.22611	N	0.663916964200526	0.77271	6.642983	0.430586589897593	0.63477	4.582463	0.999994534518189	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.608524	0.38960	0	0.699875	0.68795	0	.	.	4.36	3.41	0.38145	0.556000	0.23144	1.166000	0.24589	0.549000	0.26987	0.384000	0.26039	0.614000	0.25782	0.648000	0.32638	0.0:0.7871:0.2129:0.0	9.642	0.39011	310	0.87484	.;.	.	.	.	.	.	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	0.008560	0.005051	0.005435	0.026316	0.000000	0.017241	0.006098	0.003788	0.08333	1752.83	137	chr3	46688207	.	C	A	1752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.116;DP=349;ExcessHet=0;FS=5.207;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.093;SOR=0.431	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1276	5	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1260.83	38	chr3	46858411	.	C	T	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.843;DP=292;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.536;SOR=0.968	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1299	5	0	1	0
chr3	46860742	46860742	G	A	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C241T:p.R81W	Cardiomyopathy, hypertrophic, 8	.	.	.	.	.	.	.	.	.	.	923221	Cardiomyopathy|Hypertrophic_cardiomyopathy_8|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.842	0.1888687965	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761891361	1.094e-05	1.094e-05	1.361e-05	8.25e-06	6.708e-05	6.48e-06	5.24e-06	1.779e-05	8.93e-06	0	6.708e-05	0	5.038e-05	0	0	8.093e-06	3.311e-05	0	6.574e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.01	0.65728	D	1.0	0.90584	D	0.991	0.79672	D	0.000005	0.62929	D	0.000000	1	0.81001	D	4.47	0.98884	H	-2.08	0.86010	D	-7.23	0.94300	D	0.937	0.94432	0.812	0.94560	D	0.848	0.94923	D	10	0.98338246	0.98472	D	0.188869	0.86027	D	0.842	0.95063	0.92	0.98568	0.955057998241	0.95458	0.829547313322129	0.82912	1.13119082289	0.78624	0.816436767578	0.84481	D	0.862216	0.96953	D	0.25269	0.78852	D	0.322167	0.89180	D	0.902413326898361	0.55537	D	0.991044	0.97243	D	0.6560882	0.75689	0.3675849	0.62065	0.6560882	0.75691	0.3675849	0.62065	-12.052	0.85103	D	0.6545036669826321	0.72712	0.993	0.94573	P	.;.	.;.	5.084385	0.84876	28.4	0.99919594872627926	0.98654	0.87079	0.46512	D	AEFDBCI	0.945581	0.95405	D	0.760315366772861	0.83574	8.053476	0.61030675490734	0.75688	6.354885	0.999990555571936	0.74766	0.533608	0.22052	0	0.573078	0.20572	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	4.36	3.41	0.38145	0.725000	0.25638	2.292000	0.31965	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.6799:0.3201	9.190	0.36354	138	0.94518	EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2946.83	217	chr3	46860742	.	G	A	2946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=397;ExcessHet=0;FS=1.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.123;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	5	0	1	0
chr3	47005029	47005029	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon38:c.G6250A:p.V2084I,NBEAL2:NM_015175:exon39:c.G6352A:p.V2118I	Gray platelet syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	889207	Inborn_genetic_diseases|NBEAL2-related_disorder|Gray_platelet_syndrome|not_specified	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0201190071842	0.0008	0.000199681	0.0011	0	0.0002	0	0.0015	0.0017	0.0014	7.107e-05	0.0009314	144	154602	rs146270553	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0003	3.831e-05	2.521e-05	0.0012	0.0010	0.0012	0.0005	8.135e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0004	0	0	0.0005	0.0034	0.0009	0	0	0.175	0.22400	T	.	.	.	0.781	0.44300	P	0.459	0.46380	P	0.000004	0.62929	D	0.060664	0.99759	0.46701	D	1.02	0.25474	L	-1.32	0.79761	T	-0.77	0.21429	N	0.387	0.42834	-0.4884	0.69065	T	0.339	0.70559	T	10	0.05044812	0.04778	T	0.020119	0.42647	T	0.283	0.60100	.	.	0.554306714541	0.55088	0.574916575761773	0.57420	0.850350720984	0.68505	0.527846336365	0.42731	T	0.128739	0.45659	T	-0.312182	0.07558	T	-0.245832	0.50227	T	0.0174905266044585	0.00485	T	0.866813	0.56740	D	0.16182034	0.36217	0.13756381	0.32877	0.11685371	0.27555	0.13773769	0.32913	-5.596	0.42755	T	0.2169247539664994	0.29188	0.087	0.10979	B	.	.	4.501679	0.70410	25.5	0.99816543332672536	0.89973	0.93218	0.57633	D	AEFDBCI	0.497687	0.53210	N	0.218762956111477	0.52108	3.387207	0.327621687687157	0.57169	3.881747	0.999999999800572	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	5.846000	0.69165	7.602000	0.61596	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.729	0.85289	25	0.98345	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr3	47005029	.	G	A	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.476;DP=284;ExcessHet=0;FS=1.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.928;SOR=0.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	5	0	1	0
chr3	47271415	47271415	C	T	exonic	KIF9	.	nonsynonymous SNV	KIF9:NM_022342:exon5:c.G413A:p.R138H,KIF9:NM_182902:exon5:c.G413A:p.R138H,KIF9:NM_001134878:exon6:c.G413A:p.R138H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0286015128626	.	.	8.268e-06	0	0	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs200343708	3.831e-05	3.831e-05	4.356e-05	3.3e-05	4.407e-05	3.025e-05	2.719e-05	3.373e-05	3.038e-05	2.987e-05	0	3.826e-05	2.519e-05	0	0	4.407e-05	6.623e-05	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.06	0.39575	T	0.333	0.28860	T	0.094	0.34173	B	0.053	0.29615	B	0.000042	0.53742	D	0.124687	0.99619	0.43068	D	2.14	0.59869	M	-0.97	0.75670	T	-2.74	0.58248	D	0.277	0.33030	-0.6218	0.63914	T	0.267	0.63865	T	10	0.33400357	0.50581	T	0.028602	0.51249	D	0.248	0.55615	0.58	0.70604	0.795758862108	0.79386	0.4502369623213205	0.44941	0.302362172283	0.32568	0.601016402245	0.53048	T	0.284042	0.65681	T	-0.100928	0.36271	T	-0.275095	0.47305	T	0.705424010753632	0.40978	D	0.90141	0.68156	D	0.43644387	0.63172	0.22112876	0.46913	0.43644387	0.63173	0.22112876	0.46912	-6.889	0.53218	T	.	.	0.091	0.23041	B	.;.;.;.	.;.;.;.	2.992113	0.39950	21.1	0.997323439198194	0.82833	0.56483	0.30129	D	AEFI	0.132662	0.25205	N	-0.0678562170929093	0.38809	2.27873	0.0583419171791293	0.42476	2.569868	0.999896051016046	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.33	4.46	0.53567	1.689000	0.37319	2.145000	0.30871	0.599000	0.40250	0.895000	0.31310	0.974000	0.29927	0.995000	0.73285	0.0:0.921:0.0:0.079	12.88	0.57402	15	0.98792	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1253.83	114	chr3	47271415	.	C	T	1253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.27;DP=291;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.217;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	5	0	1	0
chr3	48415685	48415685	G	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon19:c.C3692T:p.A1231V,PLXNB1:NM_002673:exon19:c.C3692T:p.A1231V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0712695352655	.	.	8.422e-05	0	0.0019	0	0	9.586e-05	0	0	2.59e-05	4	154602	rs754565865	3.2e-05	3.283e-05	1.966e-05	4.466e-05	0.0001	2.439e-05	2.177e-05	5.795e-05	4.33e-05	0	0	0	0	0	0	3.326e-05	0	0.0001	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.408e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.408e-05	0	0	0.33	0.13610	T	0.293	0.22154	T	0.029	0.19866	B	0.114	0.31755	B	0.011151	0.29642	N	0.360538	1	0.81001	D	0.575	0.15311	N	-0.91	0.75001	T	-0.5	0.15782	N	0.159	0.16586	-0.8956	0.48427	T	0.202	0.55891	T	10	0.052037805	0.05177	T	0.07127	0.71225	D	0.115	0.32236	0.39	0.41279	0.518009022472	0.51444	0.5061708831692152	0.50539	0.625447999306	0.56721	0.50171238184	0.39067	T	0.139432	0.47345	T	-0.292187	0.09417	T	-0.372769	0.36566	T	0.0699623823165894	0.08646	T	0.540746	0.18332	T	0.037778664	0.04907	0.05552892	0.09758	0.037778664	0.04906	0.05552892	0.09757	-3.19	0.13621	T	.	.	0.108	0.20430	B	.;.;.	.;.;.	2.990402	0.39923	21.1	0.99328198415677105	0.59661	0.85649	0.44805	D	AEFDBHCI	0.435156	0.49591	N	-0.427680033643379	0.24503	1.32349	-0.251149108069404	0.29731	1.668141	0.999998982858414	0.74766	0.706548	0.73137	0	0.69481	0.67340	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	4.7	0.58776	2.474000	0.44812	5.686000	0.49316	0.676000	0.76740	0.078000	0.22289	0.996000	0.32793	0.677000	0.33454	0.1463:0.0:0.8537:0.0	11.973	0.52364	16	0.98727	IPT domain|IPT domain;IPT domain|IPT 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	.	.	.	.	.	.	.	.	0.08333	1458.83	36	chr3	48415685	.	G	A	1458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.959;DP=262;ExcessHet=0;FS=0.941;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=-1.664;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,100,1524:.	5	0	1	0
chr3	48415686	48415686	C	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon19:c.G3691T:p.A1231S,PLXNB1:NM_002673:exon19:c.G3691T:p.A1231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.074006914724	.	.	8.403e-05	0	0.0019	0	0	9.558e-05	0	0	1.94e-05	3	154602	rs764937055	3.2e-05	3.42e-05	1.966e-05	4.466e-05	0.0001	2.439e-05	2.177e-05	5.794e-05	4.33e-05	0	0	0	0	0	0	3.326e-05	0	0.0001	1.971e-05	1.97e-05	2.568e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.721	0.03914	T	0.712	0.05488	T	0.064	0.23455	B	0.174	0.35540	B	0.011151	0.29642	N	0.360538	1	0.81001	D	0.645	0.16088	N	-0.73	0.73100	T	-0.18	0.09796	N	0.074	0.04790	-1.0746	0.08431	T	0.126	0.43174	T	10	0.030372262	0.01164	T	0.074007	0.71935	D	0.054	0.15330	0.462	0.53079	0.435911362372	0.43211	0.41714988997081176	0.41630	0.498716854058	0.48339	0.460022449493	0.33313	T	0.119726	0.44146	T	-0.203047	0.20365	T	-0.529439	0.19341	T	0.0231670753515574	0.01043	T	0.412459	0.10726	T	0.022450626	0.00909	0.035607107	0.02844	0.022450626	0.00909	0.035607107	0.02843	-3.378	0.14762	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	1.339285	0.17456	13.17	0.84025035611169141	0.15054	0.39251	0.26171	N	AEFDBHCI	0.317720	0.42163	N	-1.19917974046889	0.05013	0.2275496	-1.08859180638193	0.07924	0.3874346	0.999705892412401	0.41986	0.706548	0.73137	0	0.69481	0.67340	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	-0.16	0.12720	-0.148000	0.10203	-0.084000	0.12141	-0.773000	0.03420	0.001000	0.13787	0.556000	0.25494	0.548000	0.30127	0.1949:0.2031:0.0:0.6019	4.940	0.13311	16	0.98727	IPT domain|IPT domain;IPT domain|IPT 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	.	.	.	.	.	.	.	.	0.08333	1458.83	36	chr3	48415686	.	C	A	1458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.53;DP=261;ExcessHet=0;FS=0.941;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=-1.617;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,100,1524:.	5	0	1	0
chr3	48479246	48479246	C	A	exonic	SHISA5	.	nonsynonymous SNV	SHISA5:NM_001272065:exon3:c.G224T:p.S75I,SHISA5:NM_001272066:exon3:c.G152T:p.S51I,SHISA5:NM_001272067:exon3:c.G152T:p.S51I,SHISA5:NM_016479:exon3:c.G245T:p.S82I,SHISA5:NM_001272068:exon4:c.G152T:p.S51I	.	446	1056	18	2	0	22	0.0103093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00199681	0.0028	0.0001	0.0010	0	0	0.0003	0	0.0170	0.0017076	264	154602	rs373320698	0.0009	0.0009	0.0005	0.0013	0.0130	0.0009	0.0009	0.0123	0.0121	2.99e-05	2.269e-05	0.0001	2.526e-05	0	0.0019	0.0001	0.0009	0.0130	0.0004	0.0004	0.0002	0.0006	0.0101	0.0003	0.0003	0.0079	0.0071	2.405e-05	0	6.531e-05	0	0	0	0	0.0002	0	0.0101	0.168	0.23450	T	0.097	0.67890	T	0.001	0.07471	B	0.001	0.04355	B	0.012167	0.01328	U	4.403440	1	0.08975	N	0.345	0.11182	N	0.91	0.44856	T	-0.73	0.30555	N	0.206	0.23884	-1.0419	0.16741	T	0.047	0.20195	T	10	0.003377825	0.00059	T	.	.	.	0.026	0.05648	.	.	0.0762999501168	0.06990	0.6966147877829882	0.69602	0.254239998198	0.27993	0.290372014046	0.08976	T	0.125924	0.45195	T	-0.613818	0.00120	T	-0.642807	0.09466	T	0.00829142955957786	0.00100	T	0.612539	0.23323	T	0.06723932	0.14542	0.026744682	0.00781	0.06723932	0.14541	0.026744682	0.00780	-5.091	0.41662	T	.	.	0.123	0.27523	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.086829	0.00656	0.018	0.64709053852226939	0.07569	0.01563	0.05111	N	AEFDGBHCI	0.066446	0.13012	N	-1.78090141494797	0.00593	0.02557468	-1.90544503980602	0.00478	0.02115647	1.0	0.98316	0.833774	0.99917	0	0.52208	0.09955	0	0.719019	0.79029	0	0.634344	0.49894	0	.	.	3.52	-7.05	0.01418	-3.665000	0.00448	-1.811000	0.04683	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.3245:0.3293:0.2502	2.779	0.05027	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004036	0.000000	0.000000	0.002924	0.000000	0.000000	0.012195	0.007576	0.08333	1088.83	33	chr3	48479246	.	C	A	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=239;ExcessHet=0;FS=6.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.149;SOR=1.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr3	48581328	48581328	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon52:c.C4831T:p.P1611S	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.145966549664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.10447	T	0.259	0.23097	T	0.951	0.53992	P	0.812	0.58704	P	0.089555	0.20421	N	0.364518	0.863996	0.28312	N	1.415	0.35607	L	-4.13	0.96745	D	-0.48	0.15379	N	0.385	0.42639	0.367	0.88604	D	0.839	0.94603	D	10	0.46036363	0.59247	T	0.145967	0.82812	D	0.302	0.62290	0.346	0.34112	0.912956154227	0.91208	0.8222853786344548	0.82185	0.252204158462	0.27787	0.311387419701	0.12117	T	0.278755	0.65142	T	0.0569874	0.59235	T	-0.155918	0.58717	T	0.394808441400528	0.28746	T	0.916008	0.70013	D	0.047421176	0.08101	0.06583355	0.13400	0.047421176	0.08101	0.06583355	0.13400	-4.425	0.29894	T	0.11297636452283985	0.09835	0.070	0.03301	B	.	.	3.539150	0.49694	22.8	0.99271734512534859	0.57593	0.84257	0.43339	D	AEFDBCI	0.273582	0.38896	N	-0.0924722583024896	0.37721	2.198757	-0.104723058192488	0.35200	2.03363	0.754736207631128	0.23415	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.41	0.978	0.18859	1.431000	0.34534	1.167000	0.24596	0.665000	0.62972	0.968000	0.34134	0.727000	0.26391	0.997000	0.79791	0.0849:0.4704:0.4447:0.0	10.420	0.43531	11	0.98996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2213.83	34	chr3	48581328	.	G	A	2213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.518;DP=335;ExcessHet=0;FS=2.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.694;SOR=0.925	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	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	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.08333	1030.83	36	chr3	48589399	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.959;DP=263;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.05;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	5	0	1	0
chr3	48592791	48592791	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon7:c.C830T:p.P277L	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	.	.	.	.	.	.	.	.	.	.	1898440	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.243	0.0788558309332	7.7e-05	0.000199681	4.184e-05	0.0002	0	0.0002	0	1.526e-05	0	0	3.88e-05	6	154602	rs188978813	7.527e-06	7.524e-06	4.085e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	9.75e-05	6.95e-05	0.0002	0	0	0	1.889e-05	0	2.698e-06	0	0	0.0001	0.0001	0.0001	0.0001	0.0004	8.16e-05	6.718e-05	0.0002	0.0002	0.0004	0	6.532e-05	0	0.0002	0	0	1.47e-05	0	0	0.004	0.65419	D	0.004	0.74150	D	0.064	0.23455	B	0.039	0.23607	B	0.377912	0.13431	N	0.607542	0.999992	0.08975	N	1.04	0.26193	L	-2.08	0.86010	D	-1.79	0.42191	N	0.337	0.37820	-0.4731	0.69616	T	0.419	0.76463	T	10	0.08758402	0.15000	T	0.078856	0.73102	D	0.243	0.54921	.	.	0.793483180297	0.79156	0.3533453271698957	0.35248	0.254748099088	0.28049	0.290389180183	0.08978	T	0.180727	0.53217	T	-0.295102	0.09129	T	-0.329606	0.41512	T	0.0610123223275934	0.07327	T	0.69823	0.30825	T	0.07500179	0.16870	0.09313241	0.21983	0.07500179	0.16870	0.09313241	0.21982	-3.713	0.19510	T	.	.	0.092	0.13644	B	.	.	2.783834	0.36570	20.3	0.82932753562831252	0.14452	0.38355	0.25969	N	AEFDGBHCI	0.347065	0.44167	N	-0.602219057191103	0.18877	0.9836134	-0.550953750292146	0.20781	1.121195	0.999999981561066	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.31	4.31	0.50718	3.223000	0.50932	7.300000	0.58086	0.672000	0.70159	0.269000	0.25036	1.000000	0.68203	0.045000	0.14751	0.0:0.1479:0.8521:0.0	14.436	0.66857	10	0.99061	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1424.83	35	chr3	48592791	.	G	A	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.22;DP=318;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.215;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	5	0	1	0
chr3	48600977	48600977	C	T	exonic	UQCRC1	.	nonsynonymous SNV	UQCRC1:NM_003365:exon8:c.G964A:p.V322M	.	.	.	.	.	.	.	.	0.0001	0.214	.	3184346	Parkinsonism_with_polyneuropathy	MONDO:MONDO:0036193,MedGen:C5543299,OMIM:619279,Orphanet:611237	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00704802060989	.	0.000199681	2.537e-05	0	0	0.0003	0	0	0	0	3.84e-05	1	26028	rs555118861	1.93e-05	1.984e-05	1.914e-05	1.946e-05	0.0002	1.338e-05	1.152e-05	6.553e-05	4.477e-05	0	0	0	0.0002	0	0	1.45e-05	1.672e-05	5.839e-05	1.969e-05	1.968e-05	0	4.026e-05	0.0004	5.24e-06	2.45e-06	6.847e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0	0.0002	0.138	0.25873	T	0.124	0.35455	T	0.006	0.13644	B	0.009	0.14300	B	0.274322	0.15066	N	0.698480	1	0.08975	N	1.445	0.36358	L	1.49	0.31470	T	0.13	0.05503	N	0.277	0.31365	-1.0175	0.24528	T	0.055	0.23338	T	10	0.029720873	0.01098	T	0.007048	0.18676	T	0.031	0.07369	0.299	0.26522	0.110078149338	0.10416	0.5786638119495838	0.57795	0.224731528556	0.25008	0.240545168519	0.02840	T	0.050326	0.28563	T	-0.504882	0.00537	T	-0.670856	0.07553	T	0.0563718029468816	0.06585	T	0.686231	0.29475	T	0.06463097	0.13731	0.08789297	0.20460	0.06463097	0.13730	0.08789297	0.20459	-4.06	0.24698	T	0.2135140059862228	0.28670	0.101	0.17657	B	.	.	0.827799	0.11993	8.550	0.965894634029831	0.30365	0.12704	0.17429	N	AEFGBCI	0.293316	0.40397	N	-0.815386738009668	0.12917	0.6328054	-0.826307809162537	0.13858	0.7211664	0.999998154002089	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-1.81	0.07456	0.294000	0.18803	-1.591000	0.05105	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.907000	0.44265	0.0:0.4:0.0:0.6	11.699	0.50827	10	0.99061	Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1983.83	37	chr3	48600977	.	C	T	1983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.197;DP=303;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-0.21;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1253	5	0	1	0
chr3	48633489	48633489	C	T	exonic	SLC26A6	.	nonsynonymous SNV	SLC26A6:NM_001040454:exon1:c.G107A:p.R36Q,SLC26A6:NM_001281732:exon2:c.G170A:p.R57Q,SLC26A6:NM_001281733:exon2:c.G170A:p.R57Q,SLC26A6:NM_022911:exon2:c.G170A:p.R57Q,SLC26A6:NM_134263:exon2:c.G170A:p.R57Q,SLC26A6:NM_134426:exon2:c.G170A:p.R57Q	.	352	1169	1	0	0	1	0.000427533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.317813093777	8.2e-05	.	6.711e-05	0	8.669e-05	0	0	9.164e-05	0	6.067e-05	5.17e-05	8	154602	rs373621234	3.834e-05	3.899e-05	3.406e-05	4.266e-05	0.0003	3.028e-05	2.721e-05	0.0002	0.0001	2.987e-05	0.0003	0	0	0	0	3.418e-05	3.312e-05	2.319e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-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	0.014	0.53900	D	0.017	0.60972	D	0.98	0.59353	D	0.567	0.49782	P	.	.	.	.	0.999325	0.21358	N	1.7	0.43825	L	-3.05	0.93291	D	-1.53	0.41618	N	0.174	0.25622	-0.1540	0.78818	T	0.644	0.87587	D	9	0.14465734	0.27450	T	0.317813	0.91383	D	0.211	0.50185	.	.	0.543866918096	0.54039	0.34116466816365154	0.34029	0.203889626583	0.22805	0.410588741302	0.26538	T	0.028012	0.64329	T	-0.233679	0.16164	T	-0.288727	0.45904	T	0.0296258514828216	0.01932	T	0.79842	0.45619	T	0.050487805	0.09128	0.06091124	0.11678	0.050487805	0.09127	0.06091124	0.11677	-6.072	0.46877	T	.	.	0.080	0.11606	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.502857	0.19314	14.20	0.98080982761235502	0.38110	0.27328	0.23246	N	AEFGBI	0.146873	0.27043	N	-0.822044388853721	0.12747	0.6233775	-0.835347231493405	0.13640	0.708687	0.999908860372454	0.45458	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.62	0.829	0.17984	-0.013000	0.12615	-0.071000	0.12298	-1.736000	0.00708	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2003:0.5194:0.0:0.2803	4.727	0.12326	5	0.99359	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	98.83	34	chr3	48633489	.	C	T	98.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.545;DP=275;ExcessHet=0;FS=43.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.421;SOR=5.418	GT:AD:DP:GQ:PL	0/1:82,14:96:99:109,0,2078	5	0	1	0
chr3	48642463	48642463	T	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon31:c.A8560G:p.N2854D	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.065014562234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.14159	T	0.16	0.31427	T	0.181	0.29111	B	0.084	0.29270	B	.	.	.	.	0.999989	0.54805	D	0.955	0.23872	L	-0.44	0.69777	T	-0.45	0.14782	N	0.491	0.52475	-0.5664	0.66158	T	0.306	0.67722	T	9	0.21739817	0.38350	T	0.065015	0.69451	D	0.171	0.43483	0.278	0.23164	0.68468865495	0.68199	0.3572731980167617	0.35641	0.299326160503	0.32302	0.744699656963	0.73664	T	0.114119	0.43169	T	-0.0584118	0.43156	T	-0.321681	0.42391	T	0.723401427268982	0.41871	D	0.586341	0.21412	T	0.09609117	0.22626	0.12979598	0.31201	0.09609117	0.22626	0.12979598	0.31200	-2.882	0.08965	T	.	.	0.135	0.29311	B	.	.	3.439406	0.47839	22.5	0.99067697809349009	0.51645	0.88173	0.47984	D	AEFBI	0.430680	0.49328	N	0.0505674663363396	0.44168	2.695866	0.167199254198476	0.48060	3.02718	0.999999936418402	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	5.073000	0.64223	6.118000	0.53749	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.765	0.77890	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	884.83	35	chr3	48642463	.	T	C	884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=264;ExcessHet=0;FS=2.926;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.753;SOR=1.085	GT:AD:DP:GQ:PL	0/1:49,40:89:99:895,0,1239	5	0	1	0
chr3	48648802	48648802	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon18:c.C6694T:p.R2232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0356922659519	.	.	8.338e-06	0	0	0	0	1.525e-05	0	0	6.5e-06	1	154602	rs747131333	7.531e-06	7.524e-06	5.449e-06	9.634e-06	2.519e-05	4.04e-06	2.95e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	1.656e-05	1.159e-05	6.572e-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	0.006	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	.	.	.	.	1	0.81001	D	2.39	0.68882	M	2.87	0.10386	T	-4.68	0.79659	D	0.503	0.53532	-1.0704	0.09326	T	0.091	0.34765	T	9	0.53338546	0.63310	D	0.035692	0.56514	D	0.340	0.66202	0.519	0.62066	0.539767512765	0.53629	0.8065110304746658	0.80606	1.09446610139	0.77537	0.600993990898	0.53044	T	0.387511	0.74841	T	0.0793354	0.61963	D	-0.0601708	0.66320	T	0.985947370529175	0.76793	D	0.746525	0.36724	T	0.28145635	0.51188	0.2768039	0.53628	0.28145635	0.51188	0.2768039	0.53627	-7.833	0.59927	D	.	.	0.220	0.45086	B	.	.	5.251297	0.88165	29.5	0.99942566021444057	0.99824	0.98906	0.88443	D	AEFGBI	0.843293	0.76034	D	0.763135570117654	0.83758	8.101897	0.730402910401301	0.84684	8.361985	0.999999999996276	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	6.250000	0.72387	4.469000	0.43488	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.517	0.90892	4	0.99387	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2166.06	34	chr3	48648802	.	G	A	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=292;ExcessHet=0.4139;FS=6.111;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.096;SOR=1.059	GT:AD:DP:GQ:PL	0/1:36,36:72:99:1017,0,831	4	0	2	0
chr3	48662342	48662342	C	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.G293T:p.S98I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0536105211703	.	.	2.588e-05	0	0.0002	0	0	1.582e-05	0	0	1.94e-05	3	154602	rs199778842	2.464e-05	2.463e-05	2.588e-05	2.339e-05	6.708e-05	1.804e-05	1.601e-05	1.914e-05	1.661e-05	2.987e-05	6.708e-05	0	0	0	0	2.698e-05	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.033	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.52	0.70717	T	-0.74	0.20791	N	0.13	0.12484	-0.9482	0.41279	T	0.150	0.47663	T	9	0.06293896	0.08124	T	0.053611	0.65538	D	0.102	0.29158	0.206	0.12216	0.408804729114	0.40494	0.21573710852839337	0.21489	0.93195040475	0.71858	0.328371286392	0.14688	T	0.17803	0.52854	T	-0.237591	0.15658	T	-0.403212	0.33010	T	0.0404062061462881	0.03763	T	0.674733	0.28305	T	0.12991562	0.30328	0.10489305	0.25202	0.12991562	0.30328	0.10489305	0.25202	-5.604	0.42829	T	.	.	0.088	0.11845	B	.	.	1.114274	0.14994	11.50	0.94316839005808184	0.24640	0.06592	0.12607	N	AEFDBCI	0.091601	0.18554	N	-0.911588437545535	0.10569	0.5057382	-0.891762581189406	0.12288	0.6312534	0.999982041918513	0.51787	0.65757	0.49021	0	0.552344	0.17405	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	4.85	3.06	0.34374	-0.522000	0.06323	-0.131000	0.11618	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.0:0.6716:0.156:0.1723	6.053	0.19022	3	0.99430	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1287.83	120	chr3	48662342	.	C	A	1287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=300;ExcessHet=0;FS=4.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.578;SOR=0.835	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1293	5	0	1	0
chr3	49125080	49125080	C	T	exonic	LAMB2	.	nonsynonymous SNV	LAMB2:NM_002292:exon20:c.G2810A:p.R937Q	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	295412	LAMB2-related_infantile-onset_nephrotic_syndrome|Pierson_syndrome	MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0202250521129	.	.	0.0001	0	0.0009	0	0	3.028e-05	0	0.0002	9.7e-05	15	154602	rs201235061	4.447e-05	4.446e-05	3.812e-05	5.089e-05	0.0004	3.575e-05	3.258e-05	0.0002	0.0002	2.987e-05	0.0004	0	2.519e-05	0	0.0002	2.158e-05	3.312e-05	0.0002	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	1.47e-05	0	0.0002	0.035	0.43708	D	0.128	0.34959	T	0.17	0.28703	B	0.072	0.28043	B	0.000001	0.62929	N	0.057793	1	0.81001	D	1.76	0.45711	L	1.35	0.34648	T	-2.24	0.50175	N	0.445	0.48319	-1.0782	0.07701	T	0.083	0.32556	T	10	0.08733466	0.14933	T	0.020225	0.42781	T	0.062	0.17934	.	.	0.318252033908	0.31440	0.3217208901607694	0.32085	0.257780808339	0.28339	0.436760723591	0.30134	T	0.11697	0.43670	T	-0.320869	0.06827	T	-0.364533	0.37527	T	0.0985562551909436	0.12197	T	0.927007	0.73102	D	0.3991974	0.60677	0.26060244	0.51825	0.29137164	0.52120	0.25119102	0.50724	-5.556	0.42388	T	.	.	0.101	0.17530	B	.;.	.;.	3.541846	0.49744	22.8	0.99932193157553584	0.99439	0.98640	0.85021	D	AEFDBI	0.876664	0.80080	D	-0.0256491778689821	0.40698	2.421272	0.142671249408913	0.46755	2.916371	0.999999987948204	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.12	0.69459	3.958000	0.56444	1.432000	0.26455	0.549000	0.26987	0.999000	0.42656	0.473000	0.25062	0.974000	0.55675	0.0:0.9329:0.0:0.0671	15.258	0.73301	0	0.99858	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1294.83	37	chr3	49125080	.	C	T	1294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=311;ExcessHet=0;FS=3.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.806;SOR=1.09	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr3	49178519	49178519	A	T	exonic	C3orf84	.	nonsynonymous SNV	C3orf84:NM_001080528:exon3:c.T161A:p.F54Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0152367207943	.	.	4.309e-05	0	9.029e-05	0.0001	0	4.642e-05	0	0	3.23e-05	5	154602	rs757375378	4.721e-05	4.857e-05	3.404e-05	6.053e-05	0.0001	3.795e-05	3.477e-05	5.401e-05	4.046e-05	2.987e-05	0	0	2.519e-05	0	0	5.217e-05	0	0.0001	2.63e-05	2.627e-05	3.855e-05	1.346e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.764	0.03441	T	0.567	0.08900	T	.	.	.	.	.	.	.	.	.	.	0.99982	0.20203	N	0.98	0.24916	L	0.86	0.46777	T	-0.96	0.25551	N	0.254	0.29544	.	.	.	.	.	.	.	0.11328885	0.21278	T	0.015237	0.35857	T	.	.	.	.	0.188950314367	0.18478	0.0492383888076964	0.04866	0.108556854473	0.12245	.	.	.	0.014432	0.12290	T	-0.466015	0.00901	T	-0.647496	0.09131	T	.	.	.	0.405359	0.10397	T	0.0700635	0.15400	0.055900887	0.09889	0.0700635	0.15400	0.055900887	0.09889	-4.161	0.26185	T	.	.	0.082	0.09045	B	.;.	.;.	1.721726	0.21921	15.40	0.91071561012250257	0.20323	0.37770	0.25837	N	AEFDBI	0.087558	0.17753	N	.	.	.	.	.	.	0.958761620145085	0.28383	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.79	2.24	0.27264	0.288000	0.18695	2.081000	0.30495	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.6127:0.0:0.0:0.3873	6.979	0.23874	0	0.99858	Domain of unknown function with conserved HDNR motif;Domain of unknown function with conserved HDNR motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	788.83	38	chr3	49178519	.	A	T	788.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.06;DP=218;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-1.823;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1182:.	5	0	1	0
chr3	49178520	49178520	A	G	exonic	C3orf84	.	nonsynonymous SNV	C3orf84:NM_001080528:exon3:c.T160C:p.F54L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0227221886607	.	.	4.312e-05	0	9.032e-05	0.0001	0	4.646e-05	0	0	3.23e-05	5	154602	rs779316269	4.721e-05	4.925e-05	3.404e-05	6.053e-05	0.0001	3.795e-05	3.477e-05	5.402e-05	4.046e-05	2.987e-05	0	0	2.519e-05	0	0	5.217e-05	0	0.0001	2.629e-05	3.283e-05	3.854e-05	1.346e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.619	0.05325	T	0.395	0.15255	T	.	.	.	.	.	.	.	.	.	.	0.998174	0.22310	N	1.04	0.26193	L	1.15	0.38236	T	-0.73	0.20576	N	0.183	0.19861	.	.	.	.	.	.	.	0.16061497	0.30148	T	0.022722	0.45634	T	.	.	.	.	0.3085936734	0.30458	0.054079898936030595	0.05349	0.111390099725	0.12571	.	.	.	0.01473	0.12488	T	-0.424001	0.01613	T	-0.587146	0.13914	T	.	.	.	0.522848	0.17081	T	0.11453497	0.27039	0.13031745	0.31316	0.11453497	0.27039	0.13031745	0.31315	-2.897	0.09113	T	.	.	0.516	0.66914	A	.;.	.;.	2.964546	0.39493	21.0	0.78991806070020032	0.12542	0.86583	0.45894	D	AEFDBI	0.409043	0.48048	N	.	.	.	.	.	.	0.999857705128248	0.44174	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.79	4.79	0.60909	3.897000	0.55986	10.675000	0.83557	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	10.663	0.44904	0	0.99858	Domain of unknown function with conserved HDNR motif;Domain of unknown function with conserved HDNR motif	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	788.83	38	chr3	49178520	.	A	G	788.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.438;DP=219;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-1.575;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1182:.	5	0	1	0
chr3	49283991	49283991	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon18:c.A2395G:p.I799V,USP4:NM_003363:exon19:c.A2536G:p.I846V	.	426	1087	9	0	0	9	0.00412277	.	.	.	698169	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0052	0.00299521	0.0063	0.0013	0.0036	0	0.0112	0.0082	0.0110	0.0049	0.0060478	935	154602	rs41290700	0.0069	0.0069	0.0070	0.0068	0.0077	0.0068	0.0068	0.0076	0.0075	0.0011	0.0036	0.0023	0	0.0099	0.0050	0.0077	0.0056	0.0050	0.0054	0.0054	0.0056	0.0051	0.0083	0.0051	0.0050	0.0077	0.0075	0.0011	0.0110	0.0033	0.0014	0.0002	0.0104	0.0068	0.0083	0.0057	0.0035	0.279	0.18691	T	0.2	0.27591	T	0.0	0.02946	B	0.003	0.12992	B	0.000002	0.62929	N	0.097121	0.99999	0.58761	D	0.955	0.23872	L	1.4	0.33630	T	-0.38	0.13418	N	0.184	0.19995	-1.0640	0.10784	T	0.079	0.31284	T	10	0.0084604025	0.00192	T	.	.	.	0.067	0.19503	.	.	0.297718772494	0.29385	0.1139957832541632	0.11327	0.146708655971	0.16557	0.273526579142	0.06606	T	0.04674	0.27515	T	-0.511827	0.00490	T	-0.502149	0.22125	T	0.00516212371066622	0.00056	T	0.715328	0.32778	T	0.03580183	0.04282	0.043064065	0.05272	0.03580183	0.04282	0.043064065	0.05272	-3.906	0.23068	T	.	.	0.058	0.00614	B	.;.	.;.	1.401782	0.18160	13.58	0.94176356874001577	0.24394	0.82434	0.41662	D	AEFGBI	0.123664	0.23936	N	-0.176815557155269	0.34101	1.942459	-0.0947050296357837	0.35609	2.062162	0.98073264660507	0.30170	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	3.35	0.37468	1.852000	0.38988	-0.924000	0.06908	-0.967000	0.01957	0.963000	0.33788	0.000000	0.08366	0.706000	0.34326	0.0:0.5066:0.0:0.4934	4.762	0.12487	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	rs41290700	Likely benign	0	0	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	0.005539	0.010101	0.010870	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	774.83	79	chr3	49283991	.	T	C	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.909;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	5	0	1	0
chr3	49422261	49422261	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_000481:exon2:c.G101A:p.R34H,AMT:NM_001164710:exon2:c.G101A:p.R34H,AMT:NM_001164712:exon2:c.G101A:p.R34H	Glycine encephalopathy, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	519417	AMT-related_disorder|not_specified|Glycine_encephalopathy	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.110851774611	0.0002	0.000798722	0.0007	0	0.0008	0.0001	0	0.0011	0.0022	6.056e-05	0.0006792	105	154602	rs138259479	0.0006	0.0006	0.0006	0.0006	0.0026	0.0006	0.0006	0.0016	0.0013	0.0003	0.0014	0.0068	0.0006	0	0.0026	0.0005	0.0009	3.478e-05	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0010	0.0008	0.0002	0	0.0014	0.0055	0.0004	0	0.0136	0.0003	0.0033	0	0.034	0.44694	D	0.086	0.41239	T	0.043	0.21573	B	0.01	0.14941	B	0.086041	0.20609	N	0.458056	0.921099	0.38557	D	1.935	0.51832	L	-2.25	0.87272	D	-2.33	0.51646	N	0.306	0.36674	-0.4394	0.70750	T	0.422	0.76704	T	10	0.009922236	0.00222	T	0.110852	0.78841	D	0.245	0.55201	.	.	0.888630123247	0.88753	0.521916422324907	0.52114	0.259290870821	0.28487	0.547091364861	0.45447	T	0.758974	0.93456	D	-0.283313	0.10319	T	-0.220269	0.52712	T	0.0309152529840393	0.02132	T	0.90021	0.80559	D	0.21066408	0.43370	0.23461767	0.48683	0.29170662	0.52151	0.24508521	0.49988	-7.911	0.61159	D	0.2307966069433357	0.31230	0.104	0.31608	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.145315	0.42554	21.6	0.99192808619031747	0.55024	0.41764	0.26729	N	AEFDGBHCI	0.088845	0.18010	N	-0.542625678991445	0.20715	1.094093	-0.49958238268973	0.22166	1.202601	0.999999980471806	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.528226	0.09195	0	.	.	4.69	1.78	0.23918	0.312000	0.19147	0.630000	0.20219	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.509000	0.29221	0.0:0.682:0.0:0.318	7.665	0.27595	1	0.99630	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.015152	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1764.83	34	chr3	49422261	.	C	T	1764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.852;DP=324;ExcessHet=0;FS=1.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.399;SOR=0.528	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr3	49625133	49625133	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon2:c.C383T:p.T128M	.	431	1084	7	0	0	7	0.00321839	.	.	.	3210445	BSN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.00461384012273	0.0007	0.000599042	0.0012	0.0005	0.0007	0	0.0003	0.0016	0	0.0012	0.0012419	192	154602	rs140421176	0.0016	0.0016	0.0015	0.0016	0.0033	0.0015	0.0015	0.0022	0.0018	0.0004	0.0006	3.912e-05	0	0.0001	0.0033	0.0018	0.0016	0.0014	0.0014	0.0014	0.0013	0.0015	0.0021	0.0013	0.0012	0.0017	0.0016	0.0008	0.0011	0.0021	0	0	0.0002	0.0102	0.0019	0.0014	0.0021	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.828	0.59497	P	0.000401	0.44960	D	0.189282	0.996916	0.43501	D	0.805	0.20218	L	2.15	0.19311	T	-1.47	0.35991	N	0.241	0.27197	-1.1212	0.02257	T	0.085	0.33043	T	10	0.013657153	0.00289	T	0.004614	0.11409	T	0.133	0.36157	.	.	0.147330786459	0.14319	0.20901534266754246	0.20817	0.288263752571	0.31236	0.488674342632	0.37254	T	0.183038	0.53525	T	-0.463491	0.00935	T	-0.445333	0.28213	T	0.0262934704786098	0.01445	T	0.842916	0.51943	T	0.123157874	0.28925	0.22053032	0.46831	0.123157874	0.28924	0.22053032	0.46830	-5.934	0.45724	T	.	.	0.079	0.07507	B	.	.	3.037946	0.40717	21.2	0.99424146665765722	0.63935	0.33979	0.24958	N	AEFBI	0.364751	0.45318	N	0.216904887222884	0.52018	3.378787	0.200439852296545	0.49871	3.185329	0.999945730420843	0.47345	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	0.382000	0.20364	1.634000	0.27755	0.599000	0.40250	0.014000	0.18986	0.895000	0.27885	0.994000	0.71098	0.0:1.0:0.0:0.0	19.047	0.93008	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	2365.06	39	chr3	49625133	.	C	T	2365.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.28;DP=299;ExcessHet=0.4139;FS=4.962;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=1.41;SOR=0.732	GT:AD:DP:GQ:PL	0/1:32,34:66:99:1005,0,797	4	0	2	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1667	310.42	109	chr3	49686750	.	C	G	310.42	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=482;ExcessHet=0.4139;FS=76.682;MLEAC=2;MLEAF=0.167;MQ=48.68;MQRankSum=-5.082;QD=1.57;ReadPosRankSum=-1.025;SOR=3.705	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,104,1697	4	0	2	0
chr3	49686764	49686764	T	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.A767G:p.N256S	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.123556366319	.	.	0.0007	0.0016	0.0003	0.0006	0	0.0005	0	0.0010	0.0004226	11	26028	rs200307945	6.863e-07	6.704e-05	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	7.438e-05	0.0022	7.925e-05	6.928e-05	0.0001	4.084e-05	3.21e-05	2.373e-05	1.153e-05	7.357e-05	0	0.0001	0	0	0.0002	0	6.064e-05	0	0	0.019	0.50132	D	0.028	0.54934	D	0.919	0.50927	P	0.434	0.45506	B	0.021110	0.26899	N	0.174647	0.999999	0.81001	D	.	.	.	-1.18	0.78314	T	-4.26	0.76174	D	0.858	0.85449	0.555	0.91299	D	0.653	0.87931	D	10	0.7457582	0.75276	D	0.123556	0.80474	D	0.716	0.89922	.	.	0.948330180838	0.94778	0.8698068499494038	0.86945	0.884775936026	0.69930	0.722264707088	0.70377	T	.	.	.	0.0775077	0.61747	D	-0.126442	0.61271	T	0.449991984269792	0.30797	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73467	P	.	.	4.487158	0.70057	25.5	0.99828707284819318	0.91112	0.95135	0.63566	D	AEFBCI	0.948508	0.96021	D	0.820820393681501	0.87389	9.201381	0.795232453656589	0.89459	9.983935	0.999999999999984	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	7.769000	0.84183	7.797000	0.69042	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.066	0.80684	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	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	0.011203	0.014706	0.002762	0.008696	0.000000	0.017544	0.022388	0.008130	0.08333	58.92	116	chr3	49686764	.	T	C	58.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.4;DP=460;ExcessHet=0;FS=70.549;MLEAC=1;MLEAF=0.083;MQ=49.65;MQRankSum=-4.351;QD=0.76;ReadPosRankSum=-0.313;SOR=6.09	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,104,1697	5	0	1	0
chr3	49793599	49793599	A	G	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon12:c.T1607C:p.I536T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0773727397633	0.0020	0.000599042	0.0018	0	0	0	0	0.0034	0.0053	0.0008	0.0005821	90	154602	rs115485248	0.0018	0.0018	0.0018	0.0018	0.0021	0.0018	0.0017	0.0020	0.0020	0.0003	0.0004	0.0002	0	0.0029	0.0004	0.0021	0.0015	0.0008	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0028	0.0027	0.0004	0	0.0003	0	0	0.0021	0	0.0032	0.0014	0.0002	0.004	0.65419	D	0.004	0.74150	D	0.999	0.77913	D	0.969	0.72001	D	.	.	.	.	0.725307	0.29882	N	3.215	0.89331	M	0.94	0.43672	T	-3.31	0.65972	D	0.658	0.66787	-0.4347	0.70908	T	0.279	0.65037	T	9	0.028095365	0.00945	T	0.077373	0.72754	D	0.360	0.68052	.	.	0.526692645728	0.52315	0.722548661533945	0.72198	0.205290401865	0.22950	0.604908585548	0.53598	T	0.14076	0.47547	T	-0.265398	0.12274	T	-0.154284	0.58863	T	0.117330537321457	0.14166	T	0.732927	0.34859	T	0.33489516	0.55870	0.40180543	0.64680	0.33489516	0.55870	0.40180543	0.64680	-8.808	0.66453	D	.	.	0.662	0.71415	P	.	.	4.180358	0.62926	24.5	0.9974983819292409	0.84152	0.93128	0.57400	D	AEFCI	0.435568	0.49615	N	0.739390245836516	0.82211	7.707319	0.695872774788674	0.82065	7.675636	0.999999940947598	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	4.689000	0.61410	11.128000	0.86723	0.754000	0.88378	0.724000	0.28861	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	12.332	0.54371	2	0.99499	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	878.83	38	chr3	49793599	.	A	G	878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.489;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	5	0	1	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T,ZMYND10:NM_015896:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	393851	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|ZMYND10-related_disorder	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	1611.06	36	chr3	50343823	.	C	T	1611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=297;ExcessHet=0.4139;FS=3.096;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.788;SOR=1.013	GT:AD:DP:GQ:PL	0/1:50,38:88:99:924,0,1214	4	0	2	0
chr3	51778775	51778775	C	T	exonic	IQCF6	.	nonsynonymous SNV	IQCF6:NM_001143833:exon2:c.G172A:p.A58T,IQCF6:NM_001368368:exon2:c.G232A:p.A78T,IQCF6:NM_001368369:exon2:c.G289A:p.A97T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0066	0.00638978	0.0030	0.0242	0.0025	0	0	0.0014	0	0	0.0008732	135	154602	rs146499863	0.0011	0.0010	0.0012	0.0010	0.0247	0.0010	0.0010	0.0233	0.0227	0.0247	0.0015	0.0071	0.0003	0	0.0035	0.0003	0.0026	8.835e-05	0.0074	0.0074	0.0078	0.0070	0.0242	0.0070	0.0069	0.0229	0.0224	0.0242	0	0.0030	0.0072	0.0010	0	0.0068	0.0004	0.0071	0	0.089	0.32141	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	0.992732	0.23834	N	-0.55	0.02420	N	1.14	0.38397	T	-0.39	0.13611	N	0.253	0.28616	-1.0674	0.09994	T	0.026	0.10998	T	9	0.0057614446	0.00128	T	.	.	.	0.133	0.36157	.	.	0.0482279557977	0.04254	0.1723897203854799	0.17158	.	.	0.368216991425	0.20575	T	0.004895	0.04311	T	-0.464583	0.00920	T	-0.419846	0.31093	T	0.0161842164319878	0.00393	T	0.422958	0.11265	T	0.048636805	0.08509	0.08729215	0.20281	0.048636805	0.08509	0.08729215	0.20281	-4.013	0.23998	T	.	.	0.094	0.17488	B	.;.	.;.	3.110293	0.41948	21.4	0.99736456369440218	0.83192	0.31413	0.24331	N	AEFBI	0.061384	0.11733	N	-0.193608400254742	0.33400	1.894448	-0.0693405473204214	0.36664	2.136658	4.89096717152432E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.95	0.33285	0.544000	0.22960	1.028000	0.23458	0.599000	0.40250	0.973000	0.34540	0.892000	0.27844	0.999000	0.91618	0.0:0.7687:0.0:0.2313	6.117	0.19350	51	0.97631	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.005263	0.008475	0.004587	0.000000	0.000000	0.000000	0.000000	0.08333	1198.83	116	chr3	51778775	.	C	T	1198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.132;DP=295;ExcessHet=0;FS=3.48;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.379;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1188	5	0	1	0
chr3	51944522	51944522	A	G	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.A445G:p.K149E,PARP3:NM_001370240:exon4:c.A445G:p.K149E,PARP3:NM_005485:exon4:c.A445G:p.K149E,PARP3:NM_001370239:exon5:c.A445G:p.K149E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0326800334233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.92824	D	0.999	0.77913	D	0.977	0.78936	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.095	0.58118	M	1.76	0.25996	T	-3.55	0.73477	D	0.818	0.82862	-0.8282	0.53416	T	0.162	0.49814	T	10	0.7009835	0.72442	D	0.03268	0.54438	D	0.381	0.69863	0.643	0.78010	0.72607089365	0.72364	0.9010261568956541	0.90074	0.430820528988	0.43310	0.563263177872	0.47727	T	0.242769	0.61157	T	0.104439	0.64769	D	-0.0877568	0.64331	T	0.985243263618987	0.76296	D	0.866813	0.56740	D	0.70607823	0.78391	0.7134899	0.83093	0.70607823	0.78392	0.7134899	0.83094	-11.737	0.84414	D	.	.	0.374	0.61280	A	.;.;.;.	.;.;.;.	3.902358	0.56852	23.8	0.99758800946546633	0.84851	0.98837	0.87508	D	AEFBI	0.919049	0.88900	D	0.667071233100133	0.77478	6.682301	0.596934965364539	0.74718	6.185169	0.99999999999854	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	5.23	0.72570	9.006000	0.93125	9.111000	0.78806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	1.0:0.0:0.0:0.0	15.128	0.72177	266	0.89551	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1516.83	112	chr3	51944522	.	A	G	1516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.614;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.71;SOR=0.675	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr3	51959599	51959599	G	C	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon8:c.C440G:p.T147S,PCBP4:NM_033008:exon8:c.C569G:p.T190S,PCBP4:NM_033010:exon8:c.C569G:p.T190S,PCBP4:NM_001174100:exon9:c.C569G:p.T190S,PCBP4:NM_001363885:exon9:c.C569G:p.T190S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00857773786312	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235415916	2.142e-06	2.052e-06	2.818e-06	1.447e-06	2.794e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	2.794e-05	0	0	0	0	1.853e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.318	0.22138	T	0.146	0.35582	T	0.085	0.29860	B	0.039	0.26602	B	0.000020	0.62929	D	0.118165	0.614695	0.81001	D	1.01	0.25309	L	1.57	0.29866	T	-0.8	0.22078	N	0.226	0.27435	-1.0840	0.06591	T	0.065	0.26772	T	10	0.14093176	0.26783	T	0.008578	0.22680	T	0.081	0.23632	.	.	0.40722173914	0.40337	0.31403999929161797	0.31316	0.38769052009	0.40043	0.602040588856	0.53192	T	0.015126	0.15767	T	-0.246532	0.14527	T	-0.591902	0.13502	T	0.483665198087692	0.32032	T	0.630437	0.28992	T	0.10271392	0.24272	0.09518408	0.22564	0.10271392	0.24272	0.09518408	0.22563	-4.308	0.28288	T	.	.	0.066	0.15520	B	.;.;.;.;.;.	.;.;.;.;.;.	3.725017	0.53253	23.3	0.97997579830193138	0.37453	0.99425	0.95866	D	AEFDBI	0.882107	0.80997	D	0.00645727566708547	0.42149	2.534116	0.109646028265558	0.45039	2.774396	0.999999999973051	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.371000	0.78858	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.743	0.85323	259	0.89842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1228.83	34	chr3	51959599	.	G	C	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.645;SOR=0.666	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1239,0,1407	5	0	1	0
chr3	51993945	51993945	C	T	exonic	RPL29	.	nonsynonymous SNV	RPL29:NM_000992:exon4:c.G284A:p.R95Q	.	.	.	.	.	.	.	.	.	.	.	3906350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00886467795599	.	.	5.262e-05	0	0.0005	0	0	0	0	0	6.5e-06	1	154602	rs180851912	1.316e-05	1.368e-05	9.65e-06	1.669e-05	0.0003	8.41e-06	6.78e-06	0.0002	0.0001	0	0.0003	0	0	0	0	4.497e-06	0	2.321e-05	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.267	0.16198	T	0.417	0.14241	T	0.022	0.18677	B	0.004	0.10090	B	0.133689	0.18542	N	0.305787	1	0.08975	N	0.885	0.21608	L	1.02	0.40749	T	-1.01	0.26639	N	0.559	0.59732	-1.0826	0.06852	T	0.075	0.30272	T	10	0.11516181	0.21689	T	0.008865	0.23366	T	0.156	0.40720	0.341	0.33302	0.975556286999	0.97529	0.0817274815287049	0.08107	1.2475492963	0.81724	0.425787031651	0.28632	T	0.309574	0.68159	T	-0.219195	0.18103	T	-0.242116	0.50591	T	0.0477381549998835	0.05097	T	0.70223	0.31206	T	0.09554531	0.22487	0.06965871	0.14704	0.09554531	0.22487	0.06965871	0.14704	-9.368	0.70035	D	.	.	0.221	0.45186	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.293756	0.45186	22.1	0.97994705266085347	0.37431	0.28303	0.23517	N	AEFBCI	0.446985	0.50282	N	-0.492736959629844	0.22318	1.190891	-0.446132979984836	0.23658	1.291356	0.999958964268817	0.48110	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.59	3.64	0.40864	1.941000	0.39861	4.056000	0.41548	0.598000	0.34611	0.786000	0.29545	0.999000	0.35428	0.199000	0.21867	0.2127:0.7873:0.0:0.0	9.382	0.37483	175	0.93230	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	537.83	39	chr3	51993945	.	C	T	537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.152;DP=238;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.083;MQ=51.53;MQRankSum=-1.224;QD=11.2;ReadPosRankSum=0.186;SOR=0.46	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1356	5	0	1	0
chr3	52149876	52149876	G	A	exonic	POC1A	.	nonsynonymous SNV	POC1A:NM_001161580:exon3:c.C215T:p.S72L,POC1A:NM_001161581:exon3:c.C101T:p.S34L,POC1A:NM_015426:exon3:c.C215T:p.S72L	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	734183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.611	0.153096010206	.	.	0.0002	0	0	0.0029	0	0	0	0	0.0001617	25	154602	rs746676896	7.252e-05	7.251e-05	7.488e-05	7.014e-05	0.0019	6.115e-05	5.7e-05	0.0015	0.0014	0	0	0	0.0019	0	0	1.169e-05	0.0003	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0025	6.505e-05	5.317e-05	0.0015	0.0012	0	0	6.533e-05	0	0.0025	0	0	2.939e-05	0	0	0.103	0.33585	T	0.296	0.22494	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-1.57	0.81900	D	-4.68	0.83092	D	0.805	0.82358	0.274	0.87134	D	0.661	0.88242	D	10	0.08442715	0.14149	T	0.153096	0.83441	D	0.611	0.84773	0.516	0.61611	0.909470274544	0.90856	0.26553720406081366	0.26466	0.990172672015	0.74033	0.586426138878	0.50990	T	0.081475	0.36606	T	-0.0755526	0.40434	T	0.11869	0.78149	D	0.164146562089824	0.18172	T	0.864914	0.56300	D	0.46570715	0.65026	0.4065069	0.65022	0.45454106	0.64330	0.43163687	0.66775	-9.908	0.75448	D	0.4378701640559314	0.52390	0.188	0.40538	B	.;.;.	.;.;.	5.657480	0.92851	33	0.99905480669315827	0.97651	0.97997	0.78742	D	AEFBI	0.600725	0.59324	D	0.584925202344489	0.72234	5.77363	0.584593334878432	0.73834	6.035919	0.999999999968474	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	6.724000	0.74556	11.784000	0.96188	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.367	0.90337	217	0.91564	WD40-repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1154.83	39	chr3	52149876	.	G	A	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.111;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	5	0	1	0
chr3	52331164	52331164	G	C	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon7:c.G888C:p.Q296H	.	419	1096	7	0	0	7	0.00318327	.	.	.	452887	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|DNAH1-related_disorder|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00474170341598	0.0003	0.000798722	0.0014	0.0002	0.0009	0	0	0.0010	0.0029	0.0037	0.0005369	83	154602	rs200450328	0.0004	0.0004	0.0003	0.0004	0.0024	0.0004	0.0004	0.0021	0.0020	3.011e-05	0.0003	0.0024	0	5.727e-05	0.0017	0.0002	0.0007	0.0024	0.0004	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	2.404e-05	0	0.0014	0.0043	0.0002	0	0	0.0001	0	0.0021	0.148	0.24857	T	0.175	0.29945	T	.	.	.	.	.	.	0.184829	0.03207	N	1.784210	1	0.08975	N	.	.	.	1.92	0.23082	T	-0.65	0.18877	N	0.096	0.07673	-1.0330	0.19490	T	0.056	0.23565	T	10	0.005332947	0.00117	T	0.004742	0.11816	T	0.035	0.08770	0.26	0.20315	0.0716867268079	0.06686	0.4036637919815838	0.40282	0.117407629759	0.13229	0.231293588877	0.02066	T	.	.	.	-0.648682	0.00074	T	-0.70949	0.05322	T	0.00108584191184491	0.00010	T	0.573243	0.20505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31253	B	.	.	0.905833	0.12802	9.316	0.88958610604804456	0.18394	0.08725	0.14612	N	AEFGI	0.116132	0.22804	N	-0.905347017669906	0.10715	0.513452	-0.932202073676558	0.11337	0.5769166	0.0138582938593726	0.12519	0.581397	0.33459	0	0.550933	0.16991	0	0.565031	0.19037	0	0.567892	0.33627	0	.	.	5.11	1.84	0.24348	-1.055000	0.03603	0.650000	0.20403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.2684:0.1131:0.458:0.1604	1.959	0.03177	83	0.96533	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	849.83	34	chr3	52331164	.	G	C	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.361;DP=222;ExcessHet=0;FS=2.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.202;SOR=0.318	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	5	0	1	0
chr3	52403782	52403782	A	G	exonic	BAP1	.	nonsynonymous SNV	BAP1:NM_004656:exon13:c.T1363C:p.S455P	Tumor predisposition syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	616978	BAP1-related_tumor_predisposition_syndrome|BAP1-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0252661968503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.294	0.21011	T	0.167	0.28604	B	0.092	0.30031	B	0.009494	0.30337	N	0.350430	0.860269	0.35375	D	0.55	0.14455	N	0.36	0.58029	T	-0.73	0.20576	N	0.537	0.59138	-0.9510	0.40799	T	0.102	0.37768	T	10	0.2766176	0.45225	T	0.025266	0.48245	D	0.175	0.44197	0.142	0.04556	0.676491819518	0.67374	0.427172256058725	0.42634	0.821985878554	0.67215	0.677788496017	0.63951	T	0.026039	0.19349	T	-0.0282433	0.47672	T	-0.278346	0.46973	T	0.521985277060856	0.33438	D	0.868913	0.57225	D	0.103645034	0.24498	0.1637373	0.37968	0.103645034	0.24498	0.1637373	0.37967	-3.532	0.16883	T	0.15932934397729956	0.19365	0.851	0.79829	P	.;.	.;.	2.880604	0.38118	20.7	0.99671100488917141	0.78587	0.89607	0.50180	D	AEFDBCI	0.696954	0.65512	D	-0.179903889833374	0.33972	1.933563	-0.0140680659973843	0.39078	2.311676	0.999986006427145	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.05	3.61	0.40494	2.487000	0.44926	7.951000	0.75833	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4979:0.0:0.0:0.5021	11.047	0.47085	68	0.97118	Peptidase C12, ubiquitin carboxyl-terminal hydrolase;Peptidase C12, ubiquitin carboxyl-terminal hydrolase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	7641.0	33	chr3	52403782	.	A	G	7641.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.55;DP=482;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.047;SOR=0.673	GT:AD:DP:GQ:PL	0/1:69,85:154:99:2310,0,1696	4	1	1	0
chr3	52488109	52488109	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.G2617A:p.G873R	.	.	.	.	.	.	.	.	.	.	.	3556182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0059423537355	.	.	1.713e-05	0	0	0	0	1.57e-05	0	6.112e-05	1.29e-05	2	154602	rs770301540	2.807e-05	2.805e-05	2.861e-05	2.752e-05	3.478e-05	2.088e-05	1.88e-05	2.37e-05	2.103e-05	0	2.237e-05	0	2.519e-05	0	0	3.238e-05	0	3.478e-05	1.314e-05	1.313e-05	2.57e-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	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.662	0.52860	P	0.002568	0.36316	N	0.267717	0.995009	0.42504	D	0.805	0.20218	L	3.09	0.08371	T	-1.99	0.45949	N	0.402	0.44666	-1.0846	0.06480	T	0.021	0.08917	T	10	0.2373397	0.40832	T	0.005942	0.15490	T	0.105	0.29889	0.35	0.34760	0.23524818089	0.23142	0.47909427520745856	0.47829	0.550900486598	0.51946	0.761237084866	0.76113	T	0.089572	0.38400	T	-0.146774	0.28819	T	-0.267079	0.48116	T	0.201812628388945	0.20515	T	0.851815	0.53646	D	0.093423	0.21942	0.12641914	0.30446	0.093423	0.21942	0.12641914	0.30445	-3.892	0.22182	T	.	.	0.504	0.65145	A	.;.	.;.	4.526931	0.71028	25.6	0.99875980712678125	0.95328	0.51496	0.28909	D	AEFBCI	0.099930	0.20106	N	0.241238919638776	0.53208	3.490698	0.249570930169503	0.52625	3.436114	0.317108952508057	0.19346	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	3.86	0.43689	2.134000	0.41725	8.175000	0.76766	0.672000	0.70159	0.974000	0.34632	1.000000	0.68203	0.271000	0.23793	0.122:0.0:0.7028:0.1752	6.822	0.23048	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1608.83	46	chr3	52488109	.	G	A	1608.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=341;ExcessHet=0;FS=3.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.441;SOR=0.43	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	5	0	1	0
chr3	52514771	52514771	C	T	exonic	STAB1	.	nonsynonymous SNV	STAB1:NM_015136:exon35:c.C3749T:p.S1250L	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.121394120645	0.0004	0.00159744	0.0008	0.0006	0	0	0	0.0004	0.0022	0.0037	0.0006598	102	154602	rs143656881	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0030	0.0029	0.0003	0.0001	0.0025	0	0	0.0012	0.0001	0.0008	0.0034	0.0004	0.0004	0.0004	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	0.0003	0	0.0002	0.0043	0.0004	0	0	0.0002	0	0.0029	0.078	0.33923	T	0.002	0.79402	D	0.987	0.61912	D	0.597	0.50647	P	0.006750	0.31824	N	0.304152	0.999999	0.08975	N	2.36	0.67893	M	-1.97	0.85173	D	-4.2	0.75695	D	0.528	0.55713	-0.3284	0.74180	T	0.517	0.81932	D	10	0.01854384	0.00404	T	0.121394	0.80215	D	0.473	0.76619	.	.	0.887762261139	0.88666	0.6647952978417236	0.66416	0.390615677876	0.40274	0.467075228691	0.34279	T	0.447298	0.78961	T	-0.121223	0.32922	T	0.0516218	0.73690	D	0.0455509748204298	0.04703	T	0.879912	0.59649	D	0.22074814	0.44637	0.17490259	0.39919	0.22074814	0.44637	0.17490259	0.39918	-10.033	0.74109	D	.	.	0.131	0.28232	B	.	.	3.730416	0.53359	23.4	0.9987318541521033	0.95076	0.64686	0.32488	D	AEFDBI	0.312864	0.41818	N	0.299983499898893	0.56148	3.779187	0.30860360927753	0.56043	3.767359	0.999906952071557	0.45458	0.67177	0.52595	0	0.578056	0.33634	0	0.603688	0.36954	0	0.711	0.71501	0	.	.	5.72	4.8	0.61157	2.583000	0.45759	4.952000	0.46288	0.599000	0.40250	0.197000	0.24273	0.993000	0.31925	0.091000	0.17840	0.0:0.8299:0.1701:0.0	13.530	0.61076	83	0.96533	FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	758.83	40	chr3	52514771	.	C	T	758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.06;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.162;SOR=0.616	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr3	52818115	52818115	G	A	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon18:c.C2143T:p.R715W,ITIH4:NM_002218:exon20:c.C2233T:p.R745W	.	.	.	.	.	.	.	.	.	.	.	795458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00854571585155	0.0006	0.000399361	0.0006	0.0002	0.0006	0.0001	0	0.0009	0	0	0.0006209	96	154602	rs145279742	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0012	0.0012	0.0002	0.0009	0	2.519e-05	5.62e-05	0.0007	0.0012	0.0009	6.957e-05	0.0008	0.0008	0.0009	0.0008	0.0018	0.0007	0.0007	0.0013	0.0011	0.0003	0	0.0018	0	0.0004	0	0.0034	0.0012	0.0024	0.0002	0.087	0.43393	T	0.113	0.36901	T	0.001	0.07471	B	0.001	0.04355	B	0.006299	0.01119	N	2.778030	1	0.08975	N	1.59	0.40313	L	4.93	0.01404	T	-2.91	0.63438	D	0.184	0.23632	-0.9183	0.45783	T	0.006	0.02055	T	10	0.017233312	0.00367	T	0.008546	0.22606	T	0.100	0.28662	.	.	0.516884031612	0.51331	0.5137581172329816	0.51297	0.283962820196	0.30830	0.183320507407	0.00128	T	0.666521	0.90054	D	-0.540755	0.00332	T	-0.605881	0.12321	T	0.0283074509179369	0.01732	T	0.788921	0.42853	T	0.076019794	0.17165	0.07195286	0.15466	0.076019794	0.17164	0.07195286	0.15465	-5.164	0.38574	T	0.4387563528518042	0.52464	0.099	0.24464	B	.;.;.	.;.;.	2.462915	0.31732	18.83	0.98786306322344553	0.46222	0.08813	0.14686	N	AEFDGBI	0.382141	0.46414	N	-0.794448428190182	0.13453	0.6628846	-0.80255283232524	0.14434	0.7541432	0.988389334959233	0.31499	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.8	0.552	0.16419	0.448000	0.21443	2.380000	0.32481	0.676000	0.76740	0.001000	0.13787	0.994000	0.32194	0.717000	0.34675	0.093:0.1618:0.413:0.3322	2.638	0.04663	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1100.83	126	chr3	52818115	.	G	A	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.068;DP=334;ExcessHet=0;FS=4.448;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.726;SOR=0.859	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chr3	53808712	53808712	C	T	exonic	CACNA1D	.	nonsynonymous SNV	CACNA1D:NM_001128839:exon44:c.C5741T:p.P1914L,CACNA1D:NM_001128840:exon46:c.C5813T:p.P1938L,CACNA1D:NM_000720:exon47:c.C5873T:p.P1958L	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	496308	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0137582668619	.	.	1.654e-05	0	0	0.0001	0	1.506e-05	0	0	1.29e-05	2	154602	rs770886605	2.745e-05	3.01e-05	3.279e-05	2.207e-05	0.0002	2.069e-05	1.822e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	5.038e-05	0	0.0002	2.338e-05	1.657e-05	0	6.571e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	0.144	0.36765	T	0.0	0.15914	B	0.001	0.16012	B	0.105917	0.19637	N	0.466719	0.99841	0.47904	D	1.495	0.37439	L	0.27	0.59176	T	-0.76	0.24244	N	0.234	0.26354	-0.9364	0.43180	T	0.171	0.51213	T	10	0.07130602	0.10493	T	0.013758	0.33405	T	0.146	0.38789	0.139	0.04277	0.276254252017	0.27237	0.36520881171038094	0.36434	0.377305161825	0.39170	0.337217837572	0.16021	T	0.110448	0.42514	T	-0.438422	0.01321	T	-0.598239	0.12959	T	0.0212540858562242	0.00827	T	0.777122	0.41012	T	0.026773239	0.01778	0.04181662	0.04840	0.024458313	0.01279	0.041973922	0.04894	-4.551	0.31856	T	.	.	0.098	0.16929	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.402171	0.18166	13.58	0.15310641317232221	0.00370	0.54667	0.29672	D	AEFDBCI	0.366891	0.45455	N	-0.64235102768726	0.17683	0.9120271	-0.63139198742616	0.18688	0.9994624	0.999999814185904	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.74	3.93	0.44666	2.628000	0.46143	1.101000	0.24069	-0.173000	0.11020	0.369000	0.25916	0.001000	0.17328	0.019000	0.11356	0.0:0.8598:0.0:0.1402	12.248	0.53898	542	0.72843	Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	812.83	62	chr3	53808712	.	C	T	812.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.258;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.168;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	5	0	1	0
chr3	54880835	54880835	C	G	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon21:c.C1884G:p.F628L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.011478289355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.03846	T	0.548	0.09489	T	0.049	0.22227	B	0.01	0.14941	B	0.000000	0.84330	D	0.052854	0.994353	0.43297	D	1.245	0.31408	L	1.61	0.28391	T	-0.38	0.17834	N	0.819	0.82057	-0.8813	0.49657	T	0.200	0.55612	T	10	0.6355337	0.68759	D	0.011478	0.29147	T	0.166	0.42578	0.43	0.47843	0.628157176678	0.62512	0.6551678712511836	0.65452	0.379407620271	0.39337	0.8851583004	0.94644	D	0.114189	0.43181	T	0.0117907	0.53270	T	-0.22084	0.52656	T	0.468753695487976	0.31485	T	0.821218	0.48050	T	0.16823985	0.37270	0.17865661	0.40549	0.16823985	0.37269	0.17865661	0.40548	-4.417	0.35678	T	.	.	0.644	0.71035	P	.;.;.;.	.;.;.;.	2.570744	0.33311	19.30	0.97702380821812995	0.35442	0.95036	0.63205	D	AEFBI	0.542936	0.55847	D	0.0950568647394044	0.46233	2.866767	0.161635245308988	0.47762	3.001579	0.999997395079233	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.88	4.11	0.47350	1.467000	0.34930	2.202000	0.31296	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8557:0.0:0.1443	10.716	0.45210	821	0.40814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1681.83	33	chr3	54880835	.	C	G	1681.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.042;DP=305;ExcessHet=0;FS=0.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.562;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	5	0	1	0
chr3	56633261	56633261	A	G	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_015224:exon11:c.T2219C:p.I740T,TASOR:NM_001363940:exon17:c.T3347C:p.I1116T,TASOR:NM_001365638:exon17:c.T3347C:p.I1116T,TASOR:NM_001112736:exon18:c.T3530C:p.I1177T,TASOR:NM_001365635:exon18:c.T3530C:p.I1177T,TASOR:NM_001365636:exon18:c.T3407C:p.I1136T,TASOR:NM_001365637:exon18:c.T3407C:p.I1136T	.	430	1088	4	0	0	4	0.00183486	.	.	.	3324401	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0026855230373	0.0002	.	0.0003	9.61e-05	0	0	0	0.0001	0	0.0014	0.0002135	33	154602	rs369681222	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0	5.038e-05	0	0.0003	0.0002	0.0002	0.0013	0.0001	0.0001	0.0001	0.0001	0.0010	8.168e-05	6.724e-05	0.0004	0.0003	2.412e-05	0	0	0	0	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.011085	0.29665	N	0.331493	0.999904	0.19781	N	.	.	.	3.01	0.09075	T	0.93	0.01551	N	0.093	0.07262	-0.9325	0.43770	T	0.005	0.01761	T	10	0.008211672	0.00186	T	0.002686	0.05492	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.06777056564221096	0.06715	0.327023257297	0.34843	0.322206676006	0.13755	T	0.003094	0.02494	T	-0.666827	0.00057	T	-0.776179	0.02570	T	0.00795761390339714	0.00094	T	0.554844	0.19218	T	.	.	.	.	.	.	.	.	-2.562	0.06688	T	.	.	0.047	0.00073	B	.;.;.;.	.;.;.;.	1.200306	0.15924	12.20	0.36806430904238813	0.02389	0.11823	0.16884	N	AEFDBCI	0.014884	0.00256	N	-1.02326711371335	0.08122	0.3797577	-0.733114726615899	0.16138	0.8522959	0.0262544513520873	0.13701	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	1.76	0.23776	1.525000	0.35560	4.424000	0.43326	-0.187000	0.09635	0.997000	0.40164	1.000000	0.68203	0.981000	0.58702	0.1979:0.0:0.5605:0.2416	5.495	0.16091	283	0.88803	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1148.83	33	chr3	56633261	.	A	G	1148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.192;DP=366;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=1.14;SOR=0.889	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	5	0	1	0
chr3	56729274	56729274	A	G	exonic	ARHGEF3	.	nonsynonymous SNV	ARHGEF3:NM_001128616:exon10:c.T1595C:p.V532A,ARHGEF3:NM_019555:exon10:c.T1577C:p.V526A,ARHGEF3:NM_001289698:exon11:c.T1595C:p.V532A,ARHGEF3:NM_001377411:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001377412:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001128615:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377407:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377410:exon13:c.T1613C:p.V538A,ARHGEF3:NM_001377409:exon14:c.T1613C:p.V538A,ARHGEF3:NM_001377408:exon15:c.T1613C:p.V538A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0148333833362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.38e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.013	0.63918	D	0.0	0.07471	B	0.001	0.10090	B	0.001347	0.39310	N	0.111526	0.875162	0.35639	D	0.895	0.22405	L	1.73	0.29342	T	-0.77	0.21429	N	0.352	0.49146	-1.0694	0.09545	T	0.070	0.28577	T	10	0.13107926	0.24947	T	0.014833	0.35199	T	0.059	0.16972	0.216	0.13643	0.236619781664	0.23270	0.2788461101496022	0.27797	0.145477071591	0.16437	0.677927732468	0.63971	T	0.03586	0.23881	T	-0.189182	0.22377	T	-0.509523	0.21363	T	0.590241134166718	0.36016	D	0.860114	0.55285	D	0.073734075	0.16497	0.08979573	0.21019	0.073734075	0.16497	0.08979573	0.21018	-7.239	0.56693	T	.	.	0.097	0.32202	B	.;.;.;.;.	.;.;.;.;.	2.597349	0.33703	19.42	0.98271513732365534	0.39768	0.94514	0.61411	D	AEFGBI	0.381394	0.46367	N	-0.112173054150492	0.36863	2.136539	0.051074141658476	0.42125	2.542452	0.999586113387944	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	3.395000	0.52301	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	16.398	0.83459	384	0.83545	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1191.83	37	chr3	56729274	.	A	G	1191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.878;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.183;SOR=0.729	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	5	0	1	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I,PXK:NM_001349525:exon13:c.A1010T:p.N337I,PXK:NM_001349526:exon13:c.A1010T:p.N337I,PXK:NM_001349532:exon13:c.A1010T:p.N337I,PXK:NM_001349533:exon13:c.A1010T:p.N337I,PXK:NM_001349534:exon13:c.A1010T:p.N337I,PXK:NM_001349535:exon13:c.A1010T:p.N337I,PXK:NM_001349536:exon13:c.A1010T:p.N337I,PXK:NM_001349537:exon13:c.A1010T:p.N337I,PXK:NM_001349538:exon13:c.A1010T:p.N337I,PXK:NM_001349539:exon13:c.A1010T:p.N337I,PXK:NM_001349540:exon13:c.A1010T:p.N337I,PXK:NM_001289096:exon14:c.A1322T:p.N441I,PXK:NM_001289100:exon14:c.A1322T:p.N441I,PXK:NM_001349490:exon14:c.A1322T:p.N441I,PXK:NM_001349500:exon14:c.A1322T:p.N441I,PXK:NM_001349522:exon14:c.A1322T:p.N441I,PXK:NM_001349524:exon14:c.A1322T:p.N441I,PXK:NM_001289095:exon15:c.A1370T:p.N457I,PXK:NM_001349491:exon15:c.A1010T:p.N337I,PXK:NM_001349494:exon15:c.A1373T:p.N458I,PXK:NM_001349495:exon15:c.A1373T:p.N458I,PXK:NM_001349496:exon15:c.A1370T:p.N457I,PXK:NM_001349497:exon15:c.A1370T:p.N457I,PXK:NM_001349501:exon15:c.A1373T:p.N458I,PXK:NM_001349502:exon15:c.A1370T:p.N457I,PXK:NM_001349510:exon15:c.A1373T:p.N458I,PXK:NM_001349511:exon15:c.A1373T:p.N458I,PXK:NM_001349512:exon15:c.A1373T:p.N458I,PXK:NM_001349514:exon15:c.A1370T:p.N457I,PXK:NM_001349515:exon15:c.A1370T:p.N457I,PXK:NM_001349516:exon15:c.A1373T:p.N458I,PXK:NM_001349517:exon15:c.A1370T:p.N457I,PXK:NM_001349518:exon15:c.A1370T:p.N457I,PXK:NM_001289098:exon16:c.A1421T:p.N474I,PXK:NM_001289099:exon16:c.A1172T:p.N391I,PXK:NM_001349488:exon16:c.A1421T:p.N474I,PXK:NM_001349492:exon16:c.A1421T:p.N474I,PXK:NM_001349493:exon16:c.A1421T:p.N474I,PXK:NM_001349498:exon16:c.A1361T:p.N454I,PXK:NM_001349499:exon16:c.A1421T:p.N474I,PXK:NM_001349503:exon16:c.A1421T:p.N474I,PXK:NM_001349504:exon16:c.A1421T:p.N474I,PXK:NM_001349506:exon16:c.A1421T:p.N474I,PXK:NM_001349507:exon16:c.A1421T:p.N474I,PXK:NM_001349508:exon16:c.A1421T:p.N474I,PXK:NM_001349509:exon16:c.A1421T:p.N474I,PXK:NM_001349519:exon16:c.A1421T:p.N474I,PXK:NM_001349520:exon16:c.A1421T:p.N474I,PXK:NM_001349527:exon16:c.A1421T:p.N474I,PXK:NM_017771:exon16:c.A1421T:p.N474I,PXK:NM_001349489:exon17:c.A1172T:p.N391I,PXK:NM_001349513:exon17:c.A1172T:p.N391I,PXK:NM_001349521:exon17:c.A1172T:p.N391I,PXK:NM_001349528:exon17:c.A1172T:p.N391I,PXK:NM_001349529:exon17:c.A1172T:p.N391I,PXK:NM_001349530:exon17:c.A1172T:p.N391I,PXK:NM_001349531:exon17:c.A1172T:p.N391I	.	425	1006	84	7	0	98	0.0464455	.	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain;.;Protein kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.037261	0.020202	0.027174	0.046784	0.000000	0.051724	0.051829	0.053030	0.1667	2725.04	93	chr3	58410115	.	A	T	2725.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.3;SOR=0.953	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1245	5	1	0	0
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.030303	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	874.83	33	chr3	58653691	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=272;ExcessHet=0;FS=6.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.412;SOR=0.49	GT:AD:DP:GQ:PL	0/1:62,38:100:99:885,0,1630	5	0	1	0
chr3	63615389	63615389	A	C	exonic	SYNPR	.	nonsynonymous SNV	SYNPR:NM_144642:exon5:c.A706C:p.S236R,SYNPR:NM_001130003:exon6:c.A766C:p.S256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00544587618591	0.0011	0.00359425	0.0006	0.0050	0.0007	0.0007	0	0.0001	0	0	0.0005951	92	154602	rs192674665	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0031	0.0006	0	0.0001	0	0.0023	8.005e-05	0.0005	4.638e-05	0.0013	0.0013	0.0013	0.0013	0.0039	0.0012	0.0011	0.0034	0.0032	0.0039	0	0.0012	0	0.0014	0	0.0034	7.349e-05	0.0028	0	0.004	0.65419	D	0.178	0.33780	T	0.0	0.02946	B	0.0	0.01387	B	0.447551	0.12549	N	0.743599	1	0.19853	N	1.1	0.28011	L	1.96	0.25182	T	-0.89	0.26843	N	0.176	0.33796	-1.0308	0.20195	T	0.028	0.12190	T	10	0.0057116747	0.00127	T	0.005446	0.13984	T	0.026	0.05648	0.286	0.24440	0.0138822411134	0.00435	0.4848810429123887	0.48408	0.0804840077464	0.09054	0.329084694386	0.14796	T	0.01676	0.13794	T	-0.598662	0.00149	T	-0.634503	0.10075	T	0.00551157059314954	0.00060	T	0.585741	0.25361	T	0.14457941	0.33180	0.075580426	0.16652	0.14457941	0.33180	0.075580426	0.16652	-7.954	0.61919	D	.	.	0.351	0.58791	A	.;.;.;.	.;.;.;.	0.197866	0.05832	2.272	0.94881531838009625	0.25713	0.07504	0.13519	N	AEFI	0.116678	0.22890	N	-1.43101856652254	0.02370	0.1045868	-1.40548869088869	0.03196	0.1486219	9.47277188669118E-4	0.08042	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.23	-1.5	0.08233	0.171000	0.16497	0.479000	0.18787	-1.759000	0.00679	0.143000	0.23551	0.014000	0.20376	0.271000	0.23793	0.3782:0.1086:0.5132:0.0	7.376	0.26002	866	0.32446	.;.;.;Marvel domain|Marvel 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	0.007049	0.000000	0.012228	0.005848	0.000000	0.017241	0.003049	0.000000	0.08333	1074.83	39	chr3	63615389	.	A	C	1074.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.899;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.117;SOR=0.683	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1085,0,1498	5	0	1	0
chr3	63912809	63912809	T	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.T211G:p.S71A,ATXN7:NM_001377406:exon2:c.T211G:p.S71A,ATXN7:NM_000333:exon3:c.T211G:p.S71A,ATXN7:NM_001377405:exon3:c.T211G:p.S71A	Spinocerebellar ataxia 7, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	205437	not_provided|Abnormality_of_neuronal_migration	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.0172955138425	0.0007	.	0.0006	0.0001	0	0	0	0.0010	0.0013	0	0.0004269	66	154602	rs201561286	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0002	0.0001	0	0.0125	0	0	0.0007	0.0001	0.0012	2.431e-05	0.0005	0.0005	0.0005	0.0004	6.568e-05	0.0004	0.0003	1.981e-05	1.13e-05	4.84e-05	0	6.568e-05	0.0177	0	0	0	5.919e-05	0.0014	0	0.429	0.10980	T	0.114	0.38891	T	0.001	0.07471	B	0.001	0.06944	B	0.279070	0.14979	N	0.598130	0.965872	0.25919	N	0.695	0.17993	N	1.41	0.33412	T	-0.14	0.09135	N	0.174	0.19325	-0.9756	0.35993	T	0.034	0.14596	T	10	0.006044239	0.00136	T	0.017296	0.38942	T	0.045	0.12272	.	.	0.322284741503	0.31843	0.12574496820860298	0.14106	.	.	0.87267267704	0.92949	D	0.069252	0.33663	T	-0.314994	0.07315	T	-0.398095	0.33606	T	0.0604210256057831	0.07235	T	0.30037	0.05618	T	0.09729778	0.22933	0.08364016	0.19182	0.13301006	0.30952	0.093548566	0.22100	-2.814	0.08313	T	.	.	0.067	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.103695	0.26765	17.23	0.96918329780256729	0.31605	0.56856	0.30225	D	AEFDGBHCI	0.084157	0.17054	N	-0.723406012256135	0.15364	0.7736977	-0.594490526011373	0.19635	1.054423	0.999999620142603	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.79	1.14	0.19817	0.954000	0.28772	4.183000	0.42351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.218:0.0:0.2852:0.4968	5.221	0.14687	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000521	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	611.83	42	chr3	63912809	.	T	G	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.313;DP=240;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.111;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	5	0	1	0
chr3	64641911	64641911	C	A	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon11:c.G1709T:p.G570V,ADAMTS9:NM_182920:exon12:c.G1793T:p.G598V	.	.	.	.	.	.	.	.	.	.	.	709018	not_provided|ADAMTS9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.480	.	0.0078	0.00758786	0.0020	0.0223	0.0012	0	0	0	0	6.056e-05	0.0019922	308	154602	rs33998556	0.0006	0.0006	0.0007	0.0005	0.0217	0.0006	0.0006	0.0203	0.0198	0.0217	0.0014	0	0	0	0.0010	1.079e-05	0.0015	5.797e-05	0.0065	0.0065	0.0064	0.0066	0.0225	0.0061	0.0060	0.0213	0.0208	0.0225	0	0.0029	0	0	0	0	4.412e-05	0.0019	0	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.805	0.95442	H	0.59	0.53943	T	-4.61	0.79060	D	0.985	0.99410	-0.1928	0.77857	T	0.195	0.54956	T	10	0.011531085	0.00252	T	.	.	.	0.480	0.77077	.	.	0.85166627056	0.85023	0.8731418089074521	0.87280	0.854189277885	0.68684	0.576986968517	0.49661	T	0.460584	0.79771	T	-0.316683	0.07173	T	-0.210084	0.53687	T	0.101965008596986	0.12572	T	0.971203	0.89738	D	0.7754277	0.82375	0.6145247	0.77564	0.7754277	0.82376	0.6145247	0.77565	-11.314	0.81352	D	.	.	0.264	0.56403	B	.;.	.;.	4.871540	0.79818	27.2	0.99790308888585089	0.87572	0.99085	0.91004	D	AEFDBI	0.911167	0.87008	D	0.862151340091257	0.89789	10.11814	0.753717251282869	0.86434	8.888145	0.999999997826297	0.74766	0.566229	0.32551	0	0.573888	0.26702	0	0.618467	0.43123	0	0.674467	0.66132	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.459	0.94902	855	0.34697	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1466.83	34	chr3	64641911	.	C	A	1466.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.506;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.966;SOR=0.646	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1477,0,1236	5	0	1	0
chr3	66380720	66380720	T	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.A1910T:p.D637V,LRIG1:NM_001377348:exon11:c.A1883T:p.D628V,LRIG1:NM_001377349:exon11:c.A1628T:p.D543V,LRIG1:NM_001377344:exon17:c.A2837T:p.D946V,LRIG1:NM_001377345:exon18:c.A2132T:p.D711V,LRIG1:NM_001377346:exon18:c.A2132T:p.D711V,LRIG1:NM_015541:exon18:c.A2912T:p.D971V	.	430	1089	3	0	0	3	0.00137552	.	.	.	2827545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0658368901097	0.0007	0.000798722	0.0009	9.641e-05	0.0010	0	0	0.0014	0.0044	0.0002	0.0008732	135	154602	rs140085866	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0012	0.0012	0.0001	0.0011	0.0028	0	7.49e-05	0.0007	0.0012	0.0013	0.0003	0.0008	0.0008	0.0008	0.0008	0.0015	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0015	0.0040	0	0	0	0.0011	0.0014	0	0.463	0.10148	T	0.301	0.20293	T	0.259	0.31472	B	0.081	0.31021	B	0.355172	0.13754	N	0.713556	0.997236	0.81001	N	1.935	0.51832	L	-0.19	0.65931	T	-1.32	0.32991	N	0.326	0.36674	-0.9774	0.35593	T	0.131	0.44188	T	10	0.00498116	0.00107	T	0.065837	0.69696	D	0.102	0.29158	.	.	0.28494636882	0.28116	0.05495429076927835	0.05436	0.153582807233	0.17329	0.304059147835	0.11009	T	0.129388	0.45764	T	-0.383311	0.02969	T	-0.358755	0.38196	T	0.0535678247605584	0.06117	T	.	.	.	0.09417939	0.22137	0.06656466	0.13653	0.09417939	0.22137	0.06656466	0.13653	-3.031	0.10519	T	.	.	0.137	0.45507	B	.;.	.;.	1.066263	0.14482	11.05	0.75068754108112168	0.10933	0.37031	0.25669	N	AEFDBHCI	0.112128	0.22175	N	-0.584746812906404	0.19407	1.015474	-0.56193019456184	0.20490	1.104139	0.999999999745323	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	0.820000	0.26979	0.031000	0.13732	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	13.597	0.61465	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	4845.04	142	chr3	66380720	.	T	A	4845.04	.	AC=2;AF=0.167;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.12;SOR=1.329	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	5	1	0	0
chr3	69004435	69004435	T	A	exonic	EOGT	.	nonsynonymous SNV	EOGT:NM_001278689:exon8:c.A563T:p.K188I,EOGT:NM_173654:exon8:c.A563T:p.K188I	Adams-Oliver syndrome 4, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	438567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0076	0.00758786	0.0027	0.0271	0.0011	0	0	0.0001	0.0022	0.0016	0.0024773	383	154602	rs116138787	0.0010	0.0010	0.0010	0.0009	0.0299	0.0009	0.0009	0.0283	0.0277	0.0299	0.0019	0	0	0	0.0019	0.0001	0.0015	0.0016	0.0084	0.0084	0.0085	0.0082	0.0284	0.0080	0.0078	0.0271	0.0265	0.0284	0	0.0035	0	0	0	0	0.0002	0.0057	0.0027	0.057	0.37966	T	0.139	0.33666	T	0.001	0.07471	B	0.001	0.04355	B	0.386420	0.13317	N	0.761271	0.935531	0.37124	D	1.31	0.32734	L	3.15	0.07820	T	-4.18	0.75537	D	0.412	0.49237	-0.9582	0.39516	T	0.006	0.02018	T	10	0.00980404	0.00220	T	.	.	.	0.080	0.23350	.	.	0.18995819373	0.18626	0.63479757804961	0.63413	0.255832150863	0.28167	0.274141788483	0.06688	T	0.111299	0.42668	T	-0.66788	0.00056	T	-0.709827	0.05304	T	0.0461939643441336	0.04819	T	0.69643	0.30590	T	0.07517179	0.16919	0.121571235	0.29333	0.085789636	0.19914	0.11011875	0.26546	-9.856	0.75241	D	0.2231909666230309	0.30123	0.11	0.32128	B	.;.;.;.	.;.;.;.	2.343523	0.30033	18.31	0.87610706069792199	0.17352	0.78920	0.39013	D	AEFBI	0.116087	0.22798	N	-0.985511775275987	0.08913	0.4197374	-0.901074477567556	0.12069	0.6186706	0.999715807775188	0.42101	0.706548	0.73137	0	0.708844	0.79440	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.61	-1.83	0.07410	1.129000	0.30994	0.709000	0.20918	-0.779000	0.03363	1.000000	0.71638	0.000000	0.08366	0.712000	0.34516	0.2027:0.1222:0.3135:0.3616	1.532	0.02385	589	0.68969	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2022.83	37	chr3	69004435	.	T	A	2022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.376;DP=278;ExcessHet=0;FS=1.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.43;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,52:99:99:0|1:69004435_T_A:2033,0,1806:69004435	5	0	1	0
chr3	69004436	69004436	T	A	exonic	EOGT	.	stopgain	EOGT:NM_001278689:exon8:c.A562T:p.K188X,EOGT:NM_173654:exon8:c.A562T:p.K188X	Adams-Oliver syndrome 4, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	438613	Adams-Oliver_syndrome_4|not_provided	MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0078	0.00758786	0.0027	0.0271	0.0011	0	0	0.0001	0.0022	0.0016	0.0024773	383	154602	rs116711473	0.0010	0.0010	0.0010	0.0009	0.0299	0.0009	0.0009	0.0284	0.0278	0.0299	0.0019	0	0	0	0.0019	0.0001	0.0015	0.0016	0.0084	0.0084	0.0085	0.0082	0.0284	0.0080	0.0078	0.0271	0.0265	0.0284	0	0.0035	0	0	0	0	0.0002	0.0057	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.386420	0.13317	N	0.761271	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.452	0.48963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0978111	0.36788	T	0.109037	0.77509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	6.331190	0.95028	34	0.89829806158255876	0.19139	0.85775	0.44945	D	AEFBI	0.166487	0.29307	N	-0.393130220026878	0.25713	1.397882	-0.615464800025668	0.19096	1.023046	0.999615589386697	0.40981	0.706548	0.73137	0	0.708844	0.79440	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.61	-0.9	0.10008	0.862000	0.27553	-0.138000	0.11547	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.726000	0.34967	0.0:0.2991:0.1023:0.5986	8.125	0.30153	589	0.68969	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2022.83	37	chr3	69004436	.	T	A	2022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.706;DP=278;ExcessHet=0;FS=1.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.73;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,52:99:99:0|1:69004435_T_A:2033,0,1806:69004435	5	0	1	0
chr3	71772782	71772782	G	T	exonic	PROK2	.	nonsynonymous SNV	PROK2:NM_021935:exon3:c.C269A:p.P90Q,PROK2:NM_001126128:exon4:c.C332A:p.P111Q	Hypogonadotropic hypogonadism 4 with or without anosmia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	683598	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.524	.	0.0066	0.00658946	0.0017	0.0189	0.0006	0	0	1.502e-05	0.0033	6.064e-05	0.0016041	248	154602	rs60239864	0.0005	0.0005	0.0005	0.0005	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0007	0	0	0	0.0005	6.295e-06	0.0012	2.319e-05	0.0052	0.0052	0.0055	0.0050	0.0185	0.0049	0.0048	0.0174	0.0169	0.0185	0	0.0013	0	0	0	0	5.88e-05	0.0024	0	0.072	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.225	0.63025	M	-0.68	0.72568	T	-4.95	0.82141	D	0.608	0.62526	-0.2527	0.76287	T	0.341	0.70680	T	10	0.009821266	0.00220	T	.	.	.	0.524	0.79825	.	.	0.969817169299	0.96949	0.6497419184202265	0.64910	0.48230503497	0.47191	0.51849603653	0.41415	T	0.855206	0.96739	D	-0.291915	0.09445	T	-0.175172	0.56970	T	0.0275107508848221	0.01618	T	0.90351	0.66162	D	0.6593394	0.75864	0.70208967	0.82444	0.69660324	0.77873	0.74342906	0.84835	-8.746	0.74181	D	.	.	0.259	0.55889	B	.;.	.;.	4.802784	0.78054	26.8	0.99337694526635989	0.60051	0.98788	0.86862	D	AEFBI	0.921758	0.89573	D	0.838242827473289	0.88427	9.574902	0.846813682841278	0.92827	11.65663	0.999999994602333	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	8.649000	0.90826	9.917000	0.82473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.929	0.92531	874	0.30607	.;Prokineticin domain|Prokineticin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	538.83	34	chr3	71772782	.	G	T	538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.333;SOR=0.976	GT:AD:DP:GQ:PL	0/1:14,20:34:99:549,0,373	5	0	1	0
chr3	72841130	72841130	C	T	exonic	SHQ1	.	nonsynonymous SNV	SHQ1:NM_018130:exon4:c.G401A:p.C134Y	.	.	.	.	.	.	.	.	.	.	.	709034	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0103	0.0107827	0.0030	0.0330	0.0010	0	0	7.498e-05	0	0	0.0028266	437	154602	rs61734040	0.0008	0.0008	0.0009	0.0007	0.0304	0.0008	0.0008	0.0288	0.0282	0.0304	0.0015	0	0	0	0.0010	1.889e-05	0.0017	5.799e-05	0.0086	0.0086	0.0088	0.0084	0.0301	0.0082	0.0081	0.0287	0.0282	0.0301	0	0.0025	0	0	0	0.0034	7.351e-05	0.0066	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	N	0.060767	0.999969	0.18878	N	-2.535	0.00052	N	1.02	0.40749	T	3.65	0.00076	N	0.211	0.25006	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0016440749	0.00020	T	.	.	.	0.142	0.37995	.	.	0.139678290688	0.13603	0.43138000941002325	0.43055	0.0942578566062	0.10642	0.459768891335	0.33279	T	7.2E-4	0.00333	T	-0.536186	0.00353	T	-0.518596	0.20436	T	0.00723395835180019	0.00083	T	0.248275	0.03682	T	0.041491468	0.06119	0.08808477	0.20516	0.041491468	0.06119	0.08808477	0.20515	-2.856	0.10854	T	.	.	0.048	0.00133	B	.;.;.	.;.;.	1.483167	0.19090	14.08	0.30353132855254666	0.01656	0.11251	0.16509	N	AEFBI	0.023542	0.01327	N	-0.967274413132661	0.09309	0.4400346	-0.643726169456251	0.18375	0.9813277	0.932879535060799	0.27106	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	2.227000	0.42615	3.400000	0.38123	-0.162000	0.11565	0.992000	0.37556	1.000000	0.68203	0.530000	0.29707	0.1447:0.0795:0.0:0.7758	5.984	0.18657	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2006.83	33	chr3	72841130	.	C	T	2006.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.368;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-2.009;SOR=0.69	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2017,0,1619	5	0	1	0
chr3	74302734	74302734	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon13:c.C1742T:p.T581M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.22178053012	.	.	1.672e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs768855847	6.845e-06	6.84e-06	6.81e-06	6.88e-06	5.98e-05	3.46e-06	2.52e-06	9.9e-06	3.7e-06	5.98e-05	2.239e-05	0	2.522e-05	5.619e-05	0	1.799e-06	1.657e-05	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	0.053708	0.999991	0.58761	D	3.57	0.93460	H	-0.26	0.67187	T	-5.56	0.86296	D	0.803	0.79889	0.330	0.88024	D	0.568	0.84336	D	10	0.9240867	0.91759	D	0.221781	0.87822	D	0.637	0.86130	0.719	0.85408	0.853417048237	0.85200	0.531876928926011	0.53112	0.871758984893	0.69428	0.682322502136	0.64602	T	0.427883	0.77720	T	0.180248	0.72065	D	0.104002	0.77174	D	0.99780148267746	0.92464	D	0.979502	0.92959	D	0.7003211	0.78074	0.64536977	0.79267	0.7003211	0.78075	0.64536977	0.79268	-10.668	0.77806	D	.	.	0.582	0.68123	P	.	.	4.450193	0.69175	25.3	0.99845054155958191	0.92489	0.97465	0.74925	D	AEFI	0.822108	0.74252	D	0.60976216286234	0.73790	6.024273	0.452976973860111	0.64908	4.757224	0.0836360015598849	0.15933	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	3.34	0.37357	7.385000	0.79030	8.040000	0.76310	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.2614:0.7386:0.0	15.587	0.76233	908	0.22609	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1016.83	34	chr3	74302734	.	G	A	1016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.915;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.192;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	5	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,64:123:99:0|1:75730450_C_T:2475,0,2255:75730450	0	0	6	0
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	50.83	59	chr3	75730602	.	C	T	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.147;DP=373;ExcessHet=0;FS=4.956;MLEAC=1;MLEAF=0.083;MQ=55.11;MQRankSum=-4.272;QD=0.86;ReadPosRankSum=-0.268;SOR=2.066	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	5	0	1	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	102.52	52	chr3	75730611	.	G	T	102.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=336;ExcessHet=0;FS=17.96;MLEAC=1;MLEAF=0.083;MQ=56.91;MQRankSum=-4.443;QD=1.74;ReadPosRankSum=-0.445;SOR=3.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,4:60:1:.:.:0,1,2279:.	5	0	1	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,31:114:99:.:.:547,0,3093:.	1	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,51:114:99:.:.:1866,0,2365:.	0	0	6	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,44:118:99:0|1:75736920_C_A:1625,0,2975:75736920	0	0	6	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,42:115:99:0|1:75736920_C_A:1536,0,2939:75736920	0	0	6	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	4768.39	116	chr3	75736981	.	T	C	4768.39	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.623;DP=764;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.4;MQ=51.73;MQRankSum=-7.808;QD=9.28;ReadPosRankSum=-0.63;SOR=0.71	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1148,0,2260	1	0	4	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1784,0,1650	1	0	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,92:160:99:.:.:2138,0,1629:.	0	0	5	1
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,88:159:99:0|1:75737092_C_T:3473,0,2693:75737092	0	0	6	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,88:161:99:0|1:75737092_C_T:3467,0,2777:75737092	0	0	6	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,86:158:99:0|1:75737092_C_T:3394,0,2764:75737092	0	0	6	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,77:147:99:0|1:75737092_C_T:3023,0,2708:75737092	0	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,48:120:99:0|1:75737092_C_T:1692,0,2872:75737092	0	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	585.32	92	chr3	75737228	.	T	C	585.32	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.33;DP=570;ExcessHet=1.383;FS=51.057;MLEAC=3;MLEAF=0.25;MQ=57.87;MQRankSum=-8.441;QD=1.98;ReadPosRankSum=-1.548;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9:79:99:0|1:75737228_T_C:164,0,2872:75737228	3	0	3	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:52,113:165:99:4454,0,1719	0	0	6	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,123:191:99:0|1:75737590_A_G:4933,0,2480:75737590	0	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,136:204:99:0|1:75737590_A_G:5506,0,2446:75737590	0	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,147:217:99:0|1:75737590_A_G:5962,0,2497:75737590	0	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,157:230:99:0|1:75737590_A_G:6373,0,2593:75737590	0	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,148:213:99:0|1:75737590_A_G:6019,0,2284:75737590	0	0	6	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:159,0:159:0:.:.:0,0,521:.	0	0	5	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,45:134:99:0|1:75737881_T_C:1407,0,3543:75737881	1	0	5	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,31:121:99:0|1:75737881_T_C:981,0,3681:75737881	1	0	5	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,28:120:99:0|1:75737881_T_C:886,0,3750:75737881	1	0	5	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	2081.77	144	chr3	75738008	.	C	T	2081.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.935;DP=890;ExcessHet=0.4139;FS=14.74;MLEAC=2;MLEAF=0.2;MQ=55.71;MQRankSum=-10.49;QD=5.82;ReadPosRankSum=3.31;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,30:165:99:0|1:75737994_T_C:841,0,5426:75737994	3	0	2	1
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1648.77	169	chr3	75738053	.	C	A	1648.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.819;DP=962;ExcessHet=0.4139;FS=3.216;MLEAC=2;MLEAF=0.2;MQ=56.12;MQRankSum=-9.771;QD=4.78;ReadPosRankSum=-1.188;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,24:159:99:0|1:75738051_G_T:601,0,5596:75738051	3	0	2	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	824.77	172	chr3	75738071	.	A	G	824.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.113;DP=928;ExcessHet=0.4139;FS=9.115;MLEAC=2;MLEAF=0.2;MQ=56.88;MQRankSum=-8.496;QD=2.7;ReadPosRankSum=-1.786;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,15:146:99:0|1:75738051_G_T:236,0,5456:75738051	3	0	2	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	761.76	169	chr3	75738074	.	G	A	761.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.443;DP=917;ExcessHet=0.4139;FS=11.871;MLEAC=2;MLEAF=0.2;MQ=56.91;MQRankSum=-8.196;QD=2.57;ReadPosRankSum=-2.016;SOR=1.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14:142:99:0|1:75738051_G_T:203,0,5333:75738051	3	0	2	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	692.77	169	chr3	75738077	.	A	C	692.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.044;DP=897;ExcessHet=0.4139;FS=17.077;MLEAC=2;MLEAF=0.2;MQ=57.01;MQRankSum=-8.228;QD=2.4;ReadPosRankSum=-2.38;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,13:138:99:0|1:75738051_G_T:170,0,5210:75738051	3	0	2	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	95.13	159	chr3	75738100	.	T	C	95.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.11;DP=837;ExcessHet=0;FS=11.818;MLEAC=1;MLEAF=0.1;MQ=57.85;MQRankSum=-7.213;QD=0.73;ReadPosRankSum=-3.129;SOR=1.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:127,9:136:4:0|1:75738051_G_T:0,4,5310:75738051	4	0	1	1
chr3	75738169	75738169	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1454A:p.G485E,ZNF717:NM_001290208:exon5:c.G1454A:p.G485E,ZNF717:NM_001290209:exon5:c.G1304A:p.G435E,ZNF717:NM_001324027:exon5:c.G1454A:p.G485E	.	333	1185	4	0	0	4	0.00168492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00632419529316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178628201	0.0001	0.0005	0.0001	9.46e-05	0.0044	9.84e-05	9.291e-05	0.0038	0.0036	3.597e-05	0	0	0.0044	2.34e-05	0	1.148e-05	0.0001	1.497e-05	0.0007	0.0009	0.0006	0.0008	0.0161	0.0006	0.0005	0.0133	0.0122	7.225e-05	0	0.0003	0	0.0161	0	0	0.0002	0.0009	0.0002	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	5.45	0.00969	T	-6.64	0.92217	D	0.09	0.06854	-0.9013	0.47857	T	0.008	0.02760	T	9	0.01081869	0.00239	T	0.006324	0.16610	T	0.103	0.29403	.	.	0.0846915920261	0.08053	0.0019978879089022935	0.00184	.	.	0.555585563183	0.46644	T	.	.	.	-0.141572	0.29639	T	-0.441135	0.28682	T	0.209255822065653	0.20914	T	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.64279	A	.	.	2.147417	0.27353	17.43	0.99571562633751998	0.72440	0.01405	0.04757	N	AEFDBHCI	0.034319	0.04230	N	-0.114016770586032	0.36782	2.130796	-0.320205748440393	0.27446	1.523048	0.999975423066248	0.50053	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	2.07	1.16	0.19936	0.521000	0.22601	.	.	0.498000	0.22619	0.337000	0.25649	0.000000	0.08366	0.291000	0.24285	0.0:0.8335:0.0:0.1665	6.523	0.21480	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	.	.	.	.	.	.	.	.	0.1	551.7	155	chr3	75738169	.	C	T	551.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.59;DP=786;ExcessHet=0;FS=2.813;MLEAC=1;MLEAF=0.1;MQ=59.49;MQRankSum=-5.077;QD=3.8;ReadPosRankSum=0.599;SOR=1.057	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	4	0	1	1
chr3	75738785	75738785	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G838A:p.E280K,ZNF717:NM_001290208:exon5:c.G838A:p.E280K,ZNF717:NM_001290209:exon5:c.G688A:p.E230K,ZNF717:NM_001324027:exon5:c.G838A:p.E280K	.	413	1101	8	0	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00405605309384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1194726133	5.728e-05	0.0012	4.804e-05	6.677e-05	0.0004	4.685e-05	4.341e-05	7.739e-05	6.03e-05	3.159e-05	0.0001	0.0002	0	2.038e-05	0.0004	4.83e-05	5.178e-05	0.0001	0.0004	0.0014	0.0005	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	0.0001	0	0.0009	0.0006	0	0	0.0034	0.0006	0.0005	0	0.004	0.65419	D	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.86	0.24285	T	-2.11	0.48020	N	0.221	0.24758	-1.0631	0.10997	T	0.097	0.36367	T	9	0.16211644	0.30390	T	0.004056	0.09650	T	0.138	0.37187	.	.	0.0297737177859	0.01360	0.003683228419625344	0.00344	.	.	0.481650531292	0.36285	T	.	.	.	-0.115877	0.33801	T	-0.404226	0.32892	T	0.655935546124837	0.38718	D	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14155	B	.	.	1.292888	0.16940	12.86	0.99885148237527088	0.96049	0.65625	0.32800	D	AEFDGBCI	.	.	.	-0.0171964525402241	0.41078	2.450655	-0.204118147355341	0.31388	1.77588	0.999999999967345	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.6	1.6	0.22686	2.977000	0.48988	.	.	0.294000	0.18828	0.957000	0.33433	0.000000	0.08366	0.153000	0.20410	0.0:1.0:0.0:0.0	9.305	0.37031	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	369.83	171	chr3	75738785	.	C	T	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=954;ExcessHet=0;FS=2.053;MLEAC=1;MLEAF=0.083;MQ=58.76;MQRankSum=-6.546;QD=2.59;ReadPosRankSum=-1.239;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:164,0:164:99:.:.:0,120,1800:.	5	0	1	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:62,21:83:99:383,0,1883	1	0	5	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:46,34:80:99:750,0,1353	0	0	6	0
chr3	81761503	81761503	C	T	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon1:c.G15A:p.M5I	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	1	1519	1	1	0	3	0.000986518	.	.	.	434587	Adult_polyglucosan_body_disease|not_provided|Glycogen_storage_disease,_type_IV|GBE1-related_disorder|not_specified|Glycogen_storage_disease_IV,_classic_hepatic	MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:C3661900|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:CN239402|MedGen:CN169374|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00348851481564	0.0010	.	0.0008	0.0006	0.0006	0	0	0.0013	0	0.0002	0.0005951	92	154602	rs62267114	0.0015	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0007	3.849e-05	0	0	0.0006	0.0019	0.0011	0.0001	0.0012	0.0012	0.0012	0.0011	0.0020	0.0010	0.0010	0.0018	0.0016	0.0006	0	0.0008	0	0	0	0	0.0020	0.0024	0	0.55	0.06585	T	0.23	0.25135	T	0.0	0.02946	B	0.0	0.01387	B	0.598716	0.05633	U	1.413370	1	0.08975	N	0	0.06538	N	2.39	0.15724	T	-0.06	0.07882	N	0.12	0.11054	-0.9739	0.36366	T	0.021	0.08778	T	10	0.009051472	0.00205	T	0.003489	0.07908	T	0.024	0.04979	0.36	0.36385	0.202086224978	0.19791	0.47543763865538186	0.47462	0.0322088536778	0.03353	0.670867919922	0.62962	T	0.080025	0.36266	T	-0.652722	0.00070	T	-0.715293	0.05026	T	0.0025677427290719	0.00027	T	0.312169	0.06100	T	0.30917585	0.53715	0.21100564	0.45511	0.30917585	0.53715	0.21100564	0.45510	-2.716	0.07438	T	.	.	0.138	0.30238	B	.	.	0.557087	0.09254	6.039	0.92828722563206512	0.22360	0.00906	0.03544	N	ALL	0.039322	0.05693	N	-1.13790994922061	0.05981	0.2741486	-1.15391866656661	0.06697	0.3232697	0.99999999640944	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	2.29	1.39	0.21325	-0.644000	0.05512	-0.651000	0.08028	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.0:0.809:0.0:0.191	4.649	0.11971	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	214.83	35	chr3	81761503	.	C	T	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.644;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.2;SOR=0.627	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	5	0	1	0
chr3	87264357	87264357	T	C	exonic	POU1F1	.	nonsynonymous SNV	POU1F1:NM_000306:exon3:c.A370G:p.M124V,POU1F1:NM_001122757:exon3:c.A448G:p.M150V	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	293054	POU1F1-related_disorder|Combined_Pituitary_Hormone_Deficiency,_Recessive|not_specified|Pituitary_hormone_deficiency,_combined,_1|not_provided	.|MedGen:CN239344|MedGen:CN169374|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.0245633569571	0.0012	0.000199681	0.0018	0.0003	0.0004	0	0.0050	0.0024	0.0033	0.0012	0.001727	267	154602	rs143373007	0.0025	0.0025	0.0025	0.0024	0.0027	0.0024	0.0024	0.0026	0.0026	0.0003	0.0008	0.0005	0	0.0052	0.0003	0.0027	0.0026	0.0015	0.0018	0.0018	0.0017	0.0019	0.0025	0.0016	0.0016	0.0022	0.0021	0.0003	0	0.0010	0.0017	0	0.0059	0	0.0025	0.0005	0.0012	0.16	0.58626	T	0.189	0.66756	T	0.002	0.15914	B	0.002	0.15521	B	0.000000	0.84330	D	0.073688	0.999626	0.50225	D	0.345	0.11182	N	-2.37	0.88220	D	-0.79	0.41239	N	0.526	0.57177	-0.3532	0.73461	T	0.474	0.79821	T	10	0.007046312	0.00160	T	0.024563	0.47547	T	0.373	0.69188	.	.	0.747280184004	0.74500	0.5955594665905477	0.59485	0.0523107335176	0.05754	0.537878155708	0.44145	T	0.189097	0.54321	T	-0.228197	0.16888	T	-0.101722	0.63264	T	0.0242057004690399	0.01171	T	0.831417	0.50357	T	0.20350711	0.42430	0.2508195	0.50680	0.20350711	0.42430	0.2508195	0.50679	-4.856	0.35633	T	0.05558086056417871	0.01242	0.078	0.09820	B	.;.;.	.;.;.	2.418193	0.31091	18.64	0.96350100827962482	0.29513	0.98770	0.86628	D	AEFDBI	0.902165	0.84973	D	-0.296953468049699	0.29266	1.621434	-0.0959812809506633	0.35557	2.058482	0.999745839683469	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.64	4.46	0.53567	7.335000	0.78485	2.871000	0.35267	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.1296:0.0:0.0:0.8704	12.021	0.52638	623	0.65786	POU-specific domain|POU-specific domain;.;POU-specific 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	.	.	.	.	.	.	.	.	0.08333	611.83	34	chr3	87264357	.	T	C	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.127;DP=228;ExcessHet=0;FS=2.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.035;SOR=1.063	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1234	5	0	1	0
chr3	88467137	88467137	G	C	exonic	CSNKA2IP	.	nonsynonymous SNV	CSNKA2IP:NM_001368165:exon2:c.G1780C:p.D594H,CSNKA2IP:NM_001368166:exon3:c.G1780C:p.D594H,CSNKA2IP:NM_001368167:exon3:c.G1780C:p.D594H,CSNKA2IP:NM_001368168:exon3:c.G1780C:p.D594H	.	498	1020	3	1	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs553847678	0.0003	0.0003	0.0002	0.0003	0.0087	0.0002	0.0002	0.0062	0.0054	0	0	0	4.357e-05	0	0.0030	0.0002	0.0004	0.0087	0.0003	0.0003	0.0002	0.0005	0.0091	0.0003	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.355e-05	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03327939	0.01500	T	.	.	.	.	.	.	.	.	.	0.04547636252887201	0.04491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505949	0.15996	T	0.09049101	0.21175	0.19390145	0.42984	0.09049101	0.21175	0.19390145	0.42983	-3.649	0.18568	T	.	.	0.675	0.71933	P	.	.	4.143791	0.62103	24.4	0.71298972143786876	0.09582	0.78093	0.38479	D	AEFI	.	.	.	.	.	.	.	.	.	2.08141837707866E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.700406	0.42877	4.71	3.75	0.42236	1.958000	0.40027	7.218000	0.57839	0.589000	0.31548	0.978000	0.35038	1.000000	0.68203	0.989000	0.64315	0.1261:0.0:0.8739:0.0	6.989	0.23925	807	0.43470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	35.83	3	chr3	88467137	.	G	C	35.83	.	AC=2;AF=0.2;AN=10;DP=15;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;QD=17.91;SOR=0.693	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,213	4	1	0	1
chr3	94050833	94050833	G	A	exonic	ARL13B	.	nonsynonymous SNV	ARL13B:NM_144996:exon7:c.G830A:p.G277E,ARL13B:NM_001174151:exon8:c.G842A:p.G281E,ARL13B:NM_001174150:exon9:c.G1151A:p.G384E,ARL13B:NM_182896:exon9:c.G1151A:p.G384E,ARL13B:NM_001321328:exon10:c.G1106A:p.G369E	Joubert syndrome 8, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	293112	not_provided|Joubert_syndrome_8|ARL13B-related_disorder	MedGen:C3661900|MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291,Orphanet:475|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	0.018831332473	0.0014	0.000998403	0.0015	0.0003	0.0012	0	0	0.0019	0.0022	0.0018	0.0015006	232	154602	rs146264035	0.0016	0.0016	0.0016	0.0017	0.0095	0.0016	0.0015	0.0075	0.0068	0.0004	0.0018	0.0014	0	7.66e-05	0.0095	0.0017	0.0018	0.0019	0.0015	0.0015	0.0015	0.0015	0.0030	0.0013	0.0013	0.0023	0.0021	0.0002	0.0242	0.0030	0.0038	0	0	0.0170	0.0016	0.0062	0.0021	0.057	0.39334	T	0.223	0.31629	T	0.873	0.47975	P	0.33	0.42079	B	0.000177	0.48594	D	0.179901	0.997803	0.44208	D	1.195	0.30194	L	1.68	0.65006	T	-1.69	0.40274	N	0.509	0.54059	-0.6491	0.62753	T	0.214	0.57481	T	10	0.011502713	0.00251	T	0.018831	0.41019	T	0.115	0.32236	.	.	0.646850752827	0.64392	0.1808644425362687	0.18005	0.140100657607	0.15791	0.598794400692	0.52734	T	0.143808	0.48011	T	-0.416846	0.01792	T	-0.37881	0.35862	T	0.0156964821724911	0.00362	T	0.867113	0.57669	D	0.12681466	0.29692	0.18354386	0.41351	0.13663489	0.31666	0.20899089	0.45223	-3.033	0.10809	T	0.15840941075236456	0.19194	0.289	0.52310	B	.;.;.;.	.;.;.;.	2.903571	0.38494	20.7	0.98575612558445047	0.43167	0.70488	0.34611	D	AEFBHCI	0.186808	0.31411	N	0.224827714477852	0.52405	3.41484	0.324462246134809	0.56982	3.862464	0.0896951601528528	0.16091	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.47	4.58	0.56077	2.996000	0.49137	7.232000	0.57876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.147:0.0:0.853:0.0	10.978	0.46692	631	0.64944	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.006793	0.008824	0.000000	0.008621	0.012195	0.003788	0.08333	865.83	35	chr3	94050833	.	G	A	865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.279;DP=229;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.04;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	5	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	38.84	144	chr3	97876679	.	G	A	38.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.346;DP=535;ExcessHet=0;FS=158.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.3;SOR=7.941	GT:AD:DP:GQ:PL	0/0:80,15:98:47:0,47,1492	5	0	1	0
chr3	97959173	97959173	T	G	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.A559C:p.I187L,RIOX2:NM_001261829:exon4:c.A559C:p.I187L,RIOX2:NM_032778:exon4:c.A559C:p.I187L,RIOX2:NM_153182:exon4:c.A559C:p.I187L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.015598348583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.017	0.60972	D	0.805	0.45210	P	0.442	0.45773	B	0.000000	0.84330	D	0.052356	0.999988	0.54805	D	.	.	.	2.32	0.16640	T	-1.91	0.46146	N	0.616	0.63374	-1.0980	0.04341	T	0.041	0.17615	T	10	0.4291323	0.57374	T	0.015598	0.36422	T	0.124	0.34239	0.58	0.70604	0.290962096972	0.28708	0.537502561756686	0.53675	0.318217532371	0.34054	0.698686242104	0.66954	T	0.060343	0.31361	T	-0.0904001	0.38012	T	-0.36763	0.37167	T	0.86592423915863	0.51601	D	0.90351	0.79334	D	0.9123338	0.92514	0.5686965	0.75030	0.9123338	0.92515	0.5686965	0.75030	-8.978	0.68102	D	.	.	0.398	0.59443	A	.;.;.;.	.;.;.;.	3.563634	0.50160	22.9	0.98831842871779352	0.46969	0.95490	0.64928	D	AEFBI	0.515347	0.54234	D	0.11616824163914	0.47217	2.950515	0.193618112241123	0.49497	3.152111	0.99995516701345	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.71	4.56	0.55644	3.619000	0.53937	0.279000	0.16745	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.071:0.0:0.929	11.227	0.48118	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC 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	.	.	.	.	.	.	.	.	0.08333	227.83	34	chr3	97959173	.	T	G	227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=163;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.1;SOR=1.162	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	5	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.08333	2282.83	204	chr3	98283014	.	A	G	2282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.125;DP=493;ExcessHet=0;FS=3.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.373;SOR=0.473	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	5	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	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	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.010101	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.08333	2440.83	34	chr3	98354008	.	A	C	2440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.962;DP=404;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.996;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1466	5	0	1	0
chr3	98469641	98469641	A	G	exonic	OR5K1	.	nonsynonymous SNV	OR5K1:NM_001004736:exon1:c.A65G:p.E22G	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00246543017696	0.0027	0.000798722	0.0021	0.0005	0.0018	0	0.0002	0.0032	0.0011	0.0010	0.0019469	301	154602	rs190259915	0.0023	0.0023	0.0023	0.0023	0.0073	0.0022	0.0022	0.0055	0.0049	0.0004	0.0018	0.0205	2.519e-05	0.0003	0.0073	0.0021	0.0039	0.0010	0.0022	0.0022	0.0023	0.0020	0.0045	0.0020	0.0019	0.0036	0.0033	0.0004	0	0.0045	0.0216	0	0.0003	0.0034	0.0024	0.0009	0.0006	0.222	0.18823	T	0.134	0.34241	T	0.003	0.11197	B	0.005	0.11217	B	0.016489	0.27965	N	0.165696	0.999866	0.19989	N	1.56	0.39490	L	7.4	0.00411	T	-3.21	0.64826	D	0.114	0.10198	-0.9330	0.43695	T	0.001	0.00287	T	10	0.0047115386	0.00099	T	0.002465	0.04868	T	0.122	0.33800	.	.	0.562540394707	0.55916	0.16676417018101172	0.16596	0.0219589980584	0.02200	0.211319386959	0.00868	T	0.030826	0.21757	T	-0.613179	0.00121	T	-0.658492	0.08369	T	0.0189501159278525	0.00605	T	0.0263974	0.00160	T	0.11977177	0.28196	0.19219825	0.42721	0.11977177	0.28195	0.19219825	0.42720	-5.69	0.43605	T	.	.	0.110	0.21125	B	.;.	.;.	1.986168	0.25231	16.69	0.98704123096557006	0.44953	0.96821	0.71120	D	AEFGI	0.380193	0.46292	N	-0.318731664849088	0.28436	1.568469	-0.239865086665649	0.30123	1.693331	0.00259263629106932	0.09558	0.487112	0.14033	0	0.573888	0.26702	0	0.446627	0.06593	0	0.542086	0.14980	0	.	.	5.05	3.85	0.43556	3.307000	0.51597	.	.	0.667000	0.69007	0.108000	0.22953	0.018000	0.20648	0.610000	0.31640	0.9107:0.0:0.0893:0.0	9.207	0.36455	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2510.83	40	chr3	98469641	.	A	G	2510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.65;DP=365;ExcessHet=0;FS=1.869;MLEAC=1;MLEAF=0.083;MQ=53.62;MQRankSum=-0.679;QD=14.19;ReadPosRankSum=-0.551;SOR=0.556	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1361	5	0	1	0
chr3	98817819	98817819	C	T	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon9:c.G1162A:p.D388N	.	432	1086	4	0	0	4	0.00183824	.	.	.	3213343	DCBLD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.080029994204	0.0010	0.00159744	0.0015	0.0001	0.0019	0	0.0011	0.0023	0.0011	0	0.0014748	228	154602	rs149988957	0.0013	0.0013	0.0012	0.0013	0.0017	0.0012	0.0012	0.0014	0.0014	0.0002	0.0017	0.0006	0	0.0008	0.0014	0.0015	0.0010	4.638e-05	0.0014	0.0014	0.0015	0.0014	0.0031	0.0013	0.0012	0.0024	0.0022	0.0002	0	0.0031	0.0003	0	0.0012	0	0.0021	0.0019	0.0002	0.498	0.09836	T	0.283	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-5.32	0.98988	D	-1.39	0.35991	N	0.873	0.87049	-0.9362	0.43211	T	0.150	0.47681	T	10	0.058354497	0.06847	T	0.08003	0.73369	D	0.645	0.86536	.	.	0.972282103216	0.97198	0.796986005296395	0.79651	0.222960362883	0.24822	0.46647760272	0.34198	T	0.323633	0.69453	T	-0.171669	0.24982	T	-0.0252251	0.68684	D	0.0389043042269048	0.03493	T	0.868713	0.57175	D	0.2988864	0.52805	0.17662401	0.40209	0.2988864	0.52805	0.17662401	0.40209	-3.849	0.21538	T	.	.	0.079	0.09675	B	.;.	.;.	3.897991	0.56761	23.8	0.99560814760174099	0.71769	0.92252	0.55286	D	ALL	0.829174	0.74813	D	0.389832072917966	0.60871	4.280905	0.518896673247016	0.69263	5.33544	1.0	0.98316	0.743674	0.98306	0	0.688826	0.66785	0	0.630245	0.45026	0	0.723	0.93126	0	.	.	5.72	5.72	0.89380	7.092000	0.76589	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.733	0.88292	808	0.43318	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	935.83	36	chr3	98817819	.	C	T	935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.061;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.09;SOR=0.743	GT:AD:DP:GQ:PL	0/1:32,38:70:99:946,0,767	5	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	84.68	104	chr3	99790960	.	T	C	84.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.567;DP=564;ExcessHet=0;FS=67.653;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.592;SOR=6.439	GT:AD:DP:GQ:PL	./.:109,0:109:0:0,0,1723	3	0	1	2
chr3	99795985	99795985	G	A	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon4:c.G2084A:p.G695D,COL8A1:NM_001850:exon5:c.G2084A:p.G695D	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.117249802883	0.0004	0.000199681	0.0007	0	0.0003	0	0.0002	0.0010	0.0033	0.0003	0.0006533	101	154602	rs150077356	0.0007	0.0007	0.0007	0.0007	0.0014	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0005	0.0010	0	5.624e-05	0.0014	0.0009	0.0008	0.0001	0.0006	0.0006	0.0008	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	7.214e-05	0	0.0012	0.0006	0	0.0002	0.0102	0.0010	0	0	0.005	0.63226	D	0.004	0.74150	D	0.977	0.58535	D	0.695	0.53983	P	0.000000	0.84330	D	0.048785	1	0.81001	D	1.79	0.46772	L	-2.06	0.85875	D	-3.44	0.67477	D	0.616	0.71854	0.411	0.89263	D	0.679	0.88892	D	10	0.2505567	0.42384	T	0.11725	0.79696	D	0.531	0.80247	.	.	0.977438856807	0.97719	0.6098830362696273	0.60920	0.968552079208	0.73281	0.837520897388	0.87715	D	0.684317	0.90762	D	-0.0817388	0.39431	T	0.0692782	0.74862	D	0.11165794954959	0.13594	T	0.933207	0.74971	D	0.63610995	0.74624	0.65923756	0.80038	0.63610995	0.74625	0.65923756	0.80039	-12.113	0.85398	D	.	.	0.344	0.56185	A	.;.	.;.	4.682463	0.74951	26.2	0.99313310487262529	0.59092	0.99194	0.92619	D	AEFDBI	0.905220	0.85647	D	0.861905158258337	0.89774	10.11236	0.891180647311211	0.95177	13.38007	0.999999999999999	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	10.003000	0.99689	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.166	0.89659	290	0.88477	C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1127.83	37	chr3	99795985	.	G	A	1127.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.346;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.99;SOR=0.729	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1138,0,1361	5	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.1667	1110.06	33	chr3	100775231	.	C	G	1110.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=208;ExcessHet=0.4139;FS=0.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.921;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	4	0	2	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	320.64	33	chr3	100775333	.	T	C	320.64	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.783;DP=162;ExcessHet=1.7609;FS=130.533;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=2.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,6:31:28:.:.:0,28,425:.	2	0	3	1
chr3	102453054	102453054	G	C	exonic	ZPLD1	.	nonsynonymous SNV	ZPLD1:NM_175056:exon3:c.G290C:p.G97A,ZPLD1:NM_001329788:exon4:c.G242C:p.G81A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0673347170306	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147615734	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	1.316e-05	1.314e-05	0	2.694e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.073	0.38407	T	0.214	0.27056	T	0.999	0.90584	D	0.974	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	-1.32	0.79761	T	-4.19	0.75615	D	0.907	0.91621	0.019	0.82635	D	0.637	0.87301	D	10	0.88449454	0.87772	D	0.067335	0.70135	D	0.702	0.89284	.	.	0.883252605639	0.88210	0.8517594410700666	0.85137	0.414482418027	0.42127	0.81248986721	0.83874	D	0.472292	0.80464	T	0.306976	0.83513	D	0.203174	0.83299	D	0.980332136154175	0.73304	D	0.953005	0.82069	D	0.5278298	0.68707	0.6017085	0.76858	0.5278298	0.68708	0.6017085	0.76859	-7.42	0.57045	T	.	.	0.656	0.76878	P	.;.;.	.;.;.	5.265171	0.88406	29.6	0.99845612902318881	0.92576	0.99372	0.95168	D	AEFI	0.921796	0.89581	D	0.821201188065247	0.87412	9.209337	0.845790537433322	0.92766	11.62011	0.999999958114019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	9.482000	0.96887	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	865	0.32612	Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	967.83	33	chr3	102453054	.	G	C	967.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.118;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.459;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	5	0	1	0
chr3	105702383	105702383	G	A	exonic	CBLB	.	nonsynonymous SNV	CBLB:NM_001321796:exon11:c.C1523T:p.P508L,CBLB:NM_001321799:exon11:c.C1523T:p.P508L,CBLB:NM_001321806:exon11:c.C890T:p.P297L,CBLB:NM_001321811:exon11:c.C890T:p.P297L,CBLB:NM_001321816:exon11:c.C890T:p.P297L,CBLB:NM_001321786:exon12:c.C1754T:p.P585L,CBLB:NM_001321788:exon12:c.C1670T:p.P557L,CBLB:NM_001321789:exon12:c.C1754T:p.P585L,CBLB:NM_001321790:exon12:c.C1736T:p.P579L,CBLB:NM_001321791:exon12:c.C1670T:p.P557L,CBLB:NM_001321793:exon12:c.C1670T:p.P557L,CBLB:NM_001321794:exon12:c.C1670T:p.P557L,CBLB:NM_001321795:exon12:c.C1670T:p.P557L,CBLB:NM_001321797:exon12:c.C1670T:p.P557L,CBLB:NM_001321798:exon12:c.C1670T:p.P557L,CBLB:NM_170662:exon12:c.C1670T:p.P557L,CBLB:NM_001321807:exon13:c.C890T:p.P297L,CBLB:NM_001321808:exon13:c.C890T:p.P297L,CBLB:NM_001321813:exon13:c.C890T:p.P297L,CBLB:NM_001321822:exon13:c.C341T:p.P114L,CBLB:NM_001321820:exon14:c.C482T:p.P161L	.	428	1093	1	0	0	1	0.000457247	.	.	.	137561	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.467	0.089863802	0.0002	.	7.421e-05	0	0	0	0	0.0001	0	6.061e-05	7.76e-05	12	154602	rs148064625	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.977e-05	0.0002	0	0	0	0.0002	0.0001	9.946e-05	1.159e-05	0.0002	0.0002	0.0003	0.0001	0.0009	0.0001	0.0001	0.0006	0.0004	2.44e-05	0	0.0009	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.007	0.72224	D	0.943	0.56202	P	0.414	0.48285	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.395	0.69210	M	-2.06	0.86077	D	-3.35	0.66436	D	0.449	0.51048	0.186	0.85665	D	0.600	0.85753	D	9	0.457577	0.59085	T	0.089864	0.75407	D	0.467	0.76222	.	.	0.780490870179	0.77847	.	.	0.0561674096798	0.06201	0.656067252159	0.60848	T	0.737165	0.92690	D	-0.0806336	0.39611	T	-0.105292	0.62985	T	0.466509610414505	0.31403	T	0.884012	0.60664	D	0.37194782	0.58729	0.3622462	0.61634	0.37194782	0.58729	0.3622462	0.61633	-8.511	0.64502	D	.	.	0.158	0.44656	B	.;.;.;.	.;.;.;.	3.045504	0.40845	21.2	0.99798877608622738	0.88372	0.93877	0.59450	D	AEFBCI	0.521404	0.54585	D	0.323352785731551	0.57349	3.902	0.342944861508341	0.58085	3.976974	0.99999277017517	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	5.244000	0.65222	8.599000	0.77719	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:1.0:0.0	16.440	0.83736	953	0.10115	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1007.83	40	chr3	105702383	.	G	A	1007.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.068;DP=257;ExcessHet=0;FS=2.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.434;SOR=0.441	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1347	5	0	1	0
chr3	108554425	108554425	T	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon18:c.A2275G:p.I759V	.	561	935	21	5	0	31	0.0163072	.	.	.	2827615	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0079	0.00678914	0.0151	0.0016	0.0152	0	0.0157	0.0210	0.0142	0.0136	0.0090684	1402	154602	rs13071874	0.0093	0.0098	0.0090	0.0095	0.0282	0.0092	0.0091	0.0245	0.0231	0.0012	0.0082	0.0216	2.558e-05	0.0118	0.0282	0.0092	0.0097	0.0113	0.0085	0.0085	0.0084	0.0086	0.0128	0.0081	0.0079	0.0108	0.0105	0.0016	0.0022	0.0103	0.0216	0	0.0107	0.0340	0.0114	0.0137	0.0128	0.671	0.04548	T	0.364	0.18018	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.281368	0.963917	0.26004	N	1.61	0.41143	L	2.59	0.30133	T	-0.16	0.09460	N	0.051	0.03392	-1.0326	0.19618	T	0.031	0.13199	T	10	0.0028879046	0.00046	T	.	.	.	0.108	0.30607	.	.	0.409937222855	0.40610	0.04936724437716958	0.04879	0.123356630989	0.13895	0.384122222662	0.22839	T	0.003201	0.08027	T	-0.639528	0.00084	T	-0.678441	0.07079	T	0.00574206013498265	0.00063	T	0.733327	0.34901	T	0.028787773	0.02270	0.03298957	0.02120	0.028787773	0.02270	0.03298957	0.02120	-3.583	0.20700	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.728230	0.21999	15.44	0.97090227063027923	0.32319	0.68082	0.33669	D	AEFDBIJ	0.104944	0.20982	N	-0.194218152139997	0.33375	1.892736	-0.0284053599549227	0.38438	2.264582	0.999996611189207	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.567339	0.31927	0	.	.	5.15	5.15	0.70287	0.574000	0.23416	4.238000	0.42691	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.998000	0.85391	0.0:0.1488:0.1508:0.7004	5.505	0.16139	774	0.48577	.;.;.	.	.	.	.	rs13071874	Likely benign	0	0	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	0.019657	0.005102	0.027174	0.008772	0.000000	0.034483	0.012195	0.037879	0.08333	637.83	33	chr3	108554425	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.064;DP=224;ExcessHet=0;FS=1.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.026;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,972	5	0	1	0
chr3	112063631	112063631	C	A	exonic	TMPRSS7	.	stopgain	TMPRSS7:NM_001042575:exon10:c.C1176A:p.C392X,TMPRSS7:NM_001366279:exon10:c.C1143A:p.C381X	.	.	.	.	.	.	.	.	0.0001	0.228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs150107555	1.233e-05	1.368e-05	1.226e-05	1.239e-05	2.52e-05	7.7e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	2.52e-05	0	0	1.531e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.229	0.32591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	6.028269	0.94381	34	0.98758857114864473	0.45785	0.55165	0.29796	D	AEFBI	0.378822	0.46207	N	-0.0292014983077653	0.40537	2.408992	-0.225303873261245	0.30631	1.726418	8.76885404583739E-5	0.04703	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.79	0.892	0.18364	0.799000	0.26688	0.891000	0.22473	-1.676000	0.00793	1.000000	0.71638	1.000000	0.68203	0.366000	0.26021	0.0:0.2421:0.0:0.7579	9.069	0.35645	706	0.57215	Low-density lipoprotein (LDL) receptor class A, conserved site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1084.83	34	chr3	112063631	.	C	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.849;SOR=0.645	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1170	5	0	1	0
chr3	112116760	112116760	A	-	exonic	C3orf52	.	frameshift deletion	C3orf52:NM_001171747:exon4:c.515delA:p.Q172Hfs*18	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6e-05	.	0.0011	0	0	0	0	0.0001	0.0040	0.0029	0.0002135	33	154602	rs368909670	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0025	0	2.797e-05	0	0	0	0.0014	2.224e-05	0.0003	0.0030	0.0001	0.0001	7.708e-05	0.0002	0.0033	7.572e-05	6.277e-05	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001029	0.000000	0.004225	0.002959	0.000000	0.000000	0.000000	0.000000	0.08333	1556.79	33	chr3	112116759	.	CA	C	1556.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=1.37;SOR=0.68	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1343	5	0	1	0
chr3	112123595	112123595	T	C	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon5:c.A352G:p.M118V,GCSAM:NM_001190259:exon6:c.A403G:p.M135V,GCSAM:NM_152785:exon6:c.A397G:p.M133V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00147303915255	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214137173	1.368e-06	1.368e-06	0	2.75e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.338330	0.14003	N	0.591337	1	0.08975	N	-0.49	0.02651	N	.	.	.	0.98	0.01866	N	0.032	0.01577	-0.9787	0.35299	T	0.021	0.08686	T	9	0.020571321	0.00476	T	0.001473	0.02241	T	0.120	0.33359	0.131	0.03577	0.0846915920261	0.08053	0.05377365867163555	0.05319	0.130843865944	0.14763	0.312973231077	0.12357	T	0.104069	0.41330	T	-0.157253	0.27185	T	-0.46366	0.26202	T	0.029550542592686	0.01921	T	.	.	.	0.018070228	0.00329	0.02635879	0.00721	0.018070228	0.00329	0.02635879	0.00720	-3.172	0.12432	T	0.03935427311866683	0.00318	0.068	0.04436	B	.;.;.;.	.;.;.;.	-0.422505	0.02130	0.203	0.5601762545830854	0.05463	0.00781	0.03206	N	AEFDGBHCI	0.028004	0.02388	N	-1.46942710061961	0.02069	0.09095755	-1.42550566238279	0.02999	0.1390712	0.999999727332724	0.74766	0.714207	0.82060	0	0.648423	0.57943	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.94	0.754	0.17558	0.487000	0.22064	-0.101000	0.11941	-0.728000	0.03745	0.019000	0.19563	0.000000	0.08366	0.001000	0.02609	0.2124:0.611:0.0:0.1766	3.727	0.08007	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1278.83	37	chr3	112123595	.	T	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=344;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.05;SOR=0.644	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	5	0	1	0
chr3	113395768	113395768	C	T	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon15:c.G1872A:p.M624I,CFAP44:NM_018338:exon15:c.G1872A:p.M624I	.	.	.	.	.	.	.	.	.	.	.	2197131	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00326462848245	7.7e-05	.	5.79e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs368080560	2.192e-05	2.257e-05	2.726e-05	1.652e-05	0.0007	1.586e-05	1.357e-05	0.0005	0.0004	0.0007	4.507e-05	0	0	0	0	0	6.632e-05	1.166e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.149e-05	7.704e-05	0.0003	0.0003	0.0005	0	6.545e-05	0	0	0	0	0	0	0	0.354	0.17761	T	0.284	0.22291	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999925	0.19486	N	.	.	.	2.35	0.16217	T	-0.87	0.23590	N	0.082	0.10056	-1.0138	0.25720	T	0.018	0.07282	T	9	0.03156632	0.01293	T	0.003265	0.07207	T	0.045	0.12272	0.431	0.48007	0.0297737177859	0.01360	0.32070661215944335	0.31983	0.101288994905	0.11461	0.242178037763	0.02990	T	0.012648	0.11078	T	-0.618787	0.00112	T	-0.78389	0.02338	T	0.00698474530170483	0.00079	T	0.610839	0.24364	T	0.054596692	0.10496	0.06644132	0.13609	0.054596692	0.10496	0.06644132	0.13609	-2.109	0.03622	T	.	.	0.135	0.34602	B	.;.	.;.	-0.132866	0.03450	0.636	0.90420906111317556	0.19681	0.04990	0.10763	N	AEFBI	0.058722	0.11038	N	-1.02276912323785	0.08132	0.3802613	-1.01289876224148	0.09500	0.473053	1.25338600466866E-4	0.05386	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.7	-2.53	0.05959	-0.181000	0.09734	-3.942000	0.02438	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.439000	0.27649	0.1077:0.3945:0.1065:0.3913	2.942	0.05478	184	0.92813	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	657.83	34	chr3	113395768	.	C	T	657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.965;DP=236;ExcessHet=0;FS=2.241;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.12;SOR=0.398	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	5	0	1	0
chr3	113468368	113468368	G	C	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon10:c.C926G:p.P309R,SPICE1:NM_001331079:exon10:c.C968G:p.P323R,SPICE1:NM_144718:exon10:c.C926G:p.P309R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0130431542296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.07002	T	0.286	0.21277	T	0.049	0.22227	B	0.046	0.24676	B	0.413627	0.12963	N	0.757041	0.998663	0.22000	N	0.69	0.16971	N	1.61	0.28391	T	0.29	0.04161	N	0.335	0.37613	-1.0026	0.29168	T	0.033	0.14377	T	10	0.04538086	0.03601	T	0.013043	0.32127	T	0.012	0.01476	0.222	0.14518	0.17948927462	0.17512	0.052051453101654224	0.05147	0.109418363197	0.12343	0.294807583094	0.09629	T	0.002118	0.01518	T	-0.323749	0.06596	T	-0.702819	0.05673	T	0.0702044814825058	0.08680	T	0.640436	0.25296	T	0.058018755	0.11622	0.039936766	0.04203	0.058018755	0.11621	0.039936766	0.04203	-2.863	0.08778	T	.	.	0.097	0.15966	B	.	.	1.799585	0.22873	15.80	0.79729010569475312	0.12874	0.60683	0.31266	D	AEFGBI	0.073266	0.14648	N	-0.788193952691847	0.13616	0.6721165	-0.638945757862182	0.18496	0.9883327	0.60786250597634	0.21779	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	-0.0285	0.13248	0.282000	0.18587	0.225000	0.16120	-0.145000	0.12313	0.960000	0.33603	0.938000	0.28711	0.937000	0.47636	0.2092:0.0:0.3397:0.4511	7.558	0.27002	202	0.92131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1169.83	34	chr3	113468368	.	G	C	1169.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=272;ExcessHet=0;FS=6.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.384;SOR=0.275	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1206	5	0	1	0
chr3	114350914	114350914	G	C	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.C1164G:p.D388E,ZBTB20:NM_001164346:exon5:c.C945G:p.D315E,ZBTB20:NM_001164347:exon5:c.C945G:p.D315E,ZBTB20:NM_001164345:exon6:c.C945G:p.D315E,ZBTB20:NM_001164344:exon7:c.C945G:p.D315E,ZBTB20:NM_001348804:exon9:c.C945G:p.D315E,ZBTB20:NM_015642:exon9:c.C945G:p.D315E,ZBTB20:NM_001348802:exon10:c.C945G:p.D315E,ZBTB20:NM_001348805:exon10:c.C945G:p.D315E,ZBTB20:NM_001164343:exon11:c.C945G:p.D315E,ZBTB20:NM_001348800:exon11:c.C1164G:p.D388E,ZBTB20:NM_001348801:exon11:c.C945G:p.D315E,ZBTB20:NM_001348803:exon13:c.C1164G:p.D388E	Primrose syndrome, Autosomal dominant	428	1086	7	1	0	9	0.00412655	.	.	.	215267	ZBTB20-related_disorder|not_specified|Inborn_genetic_diseases|not_provided|Primrose_syndrome	.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0123231229473	0.0035	0.00239617	0.0030	0.0008	0.0015	0	0.0044	0.0043	0.0011	0.0018	0.0032406	501	154602	rs144663365	0.0054	0.0054	0.0056	0.0053	0.0063	0.0053	0.0053	0.0061	0.0061	0.0008	0.0019	0.0031	2.519e-05	0.0047	0.0033	0.0063	0.0060	0.0018	0.0032	0.0032	0.0034	0.0030	0.0054	0.0030	0.0029	0.0050	0.0048	0.0008	0	0.0020	0.0023	0	0.0030	0.0068	0.0054	0.0028	0.0019	0.0	0.91255	D	0.513	0.12142	T	0.984	0.60733	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	0.975	0.24501	L	3.05	0.09075	T	-0.45	0.15986	N	0.515	0.55886	-1.1409	0.01325	T	0.029	0.12673	T	10	0.008673489	0.00196	T	0.012323	0.30787	T	0.118	0.32913	0.219	0.14078	0.436533834345	0.43271	0.14146928620018684	0.14069	2.22062159339	0.95835	0.727531313896	0.71145	T	0.065255	0.32642	T	-0.453256	0.01080	T	-0.419703	0.31110	T	0.0266752070942473	0.01498	T	0.791221	0.43226	T	0.3345607	0.55842	0.34207883	0.59938	0.38899496	0.59960	0.40406618	0.64845	-2.905	0.09193	T	.	.	0.253	0.57274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.860838	0.37796	20.6	0.99482647729975815	0.66959	0.93066	0.57241	D	AEFDBI	0.465978	0.51382	N	0.260986653061192	0.54184	3.584715	0.235772074556436	0.51845	3.363527	0.997365449428213	0.35541	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.9	3.1	0.34780	1.460000	0.34855	3.575000	0.39137	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.3252:0.0:0.6748:0.0	7.584	0.27150	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.003788	0.08333	1563.83	38	chr3	114350914	.	G	C	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.443;DP=311;ExcessHet=0;FS=2.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.78;SOR=0.472	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1574,0,2046	5	0	1	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.030303	0.031250	0.017544	0.050000	0.043103	0.018293	0.026515	0.25	3499.0	89	chr3	119191045	.	A	G	3499.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.149;DP=346;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.242;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1207	4	1	1	0
chr3	119212554	119212554	C	A	exonic	B4GALT4	.	nonsynonymous SNV	B4GALT4:NM_003778:exon8:c.G1030T:p.A344S,B4GALT4:NM_212543:exon9:c.G1030T:p.A344S	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0045	0.00559105	0.0054	0.0017	0.0016	0	0.0005	0.0051	0.0045	0.0175	0.0053363	825	154602	rs150344141	0.0056	0.0057	0.0053	0.0060	0.0145	0.0055	0.0055	0.0138	0.0135	0.0006	0.0018	0.0104	2.527e-05	0.0007	0.0102	0.0056	0.0054	0.0145	0.0041	0.0041	0.0043	0.0038	0.0141	0.0038	0.0037	0.0114	0.0104	0.0011	0.0307	0.0035	0.0115	0.0002	0.0003	0.0068	0.0054	0.0057	0.0141	0.016	0.51853	D	0.0	0.92824	D	0.008	0.14655	B	0.002	0.06944	B	0.091581	0.20319	N	0.490179	1	0.08975	N	2.125	0.59049	M	0.74	0.50459	T	0.67	0.02263	N	0.035	0.01004	-1.0663	0.10246	T	0.048	0.20553	T	10	0.0042735934	0.00086	T	.	.	.	0.037	0.09474	.	.	0.516547797517	0.51297	0.37309424375441586	0.37223	0.505640415308	0.48796	0.285128474236	0.08217	T	0.007383	0.06790	T	-0.608182	0.00130	T	-0.633414	0.10157	T	0.00560085237811389	0.00061	T	0.445455	0.12454	T	0.029506277	0.02456	0.040866252	0.04516	0.029506277	0.02455	0.040866252	0.04515	-2.63	0.06734	T	.	.	0.058	0.00647	B	.;.;.	.;.;.	1.063926	0.14459	11.03	0.98636572047382098	0.43987	0.05468	0.11349	N	AEFGBI	0.036856	0.04976	N	-0.812161497254291	0.12999	0.6373827	-0.767717183410447	0.15287	0.8032646	0.999924729108521	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	2.43	0.28797	0.076000	0.14570	2.901000	0.35450	-0.177000	0.10537	0.001000	0.13787	0.577000	0.25602	0.450000	0.27895	0.1075:0.6205:0.1734:0.0986	6.103	0.19279	392	0.83172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.006793	0.011696	0.000000	0.034483	0.015244	0.011364	0.08333	316.83	44	chr3	119212554	.	C	A	316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.653;DP=254;ExcessHet=0;FS=2.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-1.232;SOR=0.317	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	5	0	1	0
chr3	121233639	121233639	G	A	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348343:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348344:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348345:exon12:c.G1135A:p.V379M,STXBP5L:NM_014980:exon12:c.G1135A:p.V379M	.	487	1026	7	2	0	11	0.00533204	.	.	.	622325	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0206573945077	0.0063	0.00339457	0.0057	0.0015	0.0012	0.0001	0.0017	0.0092	0.0011	0.0022	0.0057438	888	154602	rs61996323	0.0078	0.0079	0.0080	0.0077	0.0093	0.0077	0.0077	0.0092	0.0091	0.0018	0.0021	0.0051	2.529e-05	0.0029	0.0077	0.0093	0.0065	0.0023	0.0054	0.0054	0.0056	0.0053	0.0092	0.0051	0.0050	0.0086	0.0084	0.0017	0	0.0039	0.0049	0	0.0025	0.0136	0.0092	0.0071	0.0017	0.022	0.48642	D	0.012	0.65728	D	0.962	0.59675	D	0.713	0.54860	P	0.000190	0.48115	D	0.138974	0.99901	0.45878	D	2.405	0.69568	M	1.43	0.50192	T	-2.27	0.52289	N	0.646	0.65758	-0.8568	0.51491	T	0.150	0.47699	T	10	0.010139585	0.00227	T	0.020657	0.43298	T	0.237	0.54074	.	.	0.321697908245	0.31786	0.5965482819491511	0.59584	0.618235351031	0.56224	0.521119534969	0.41783	T	0.057566	0.30601	T	-0.346112	0.04975	T	-0.260547	0.48770	T	0.0327383321700659	0.02429	T	0.966703	0.87848	D	0.14155143	0.32612	0.19203654	0.42695	0.14155143	0.32611	0.19203654	0.42694	-9.446	0.70523	D	.	.	0.376	0.61260	A	.;.;.;.;.;.	.;.;.;.;.;.	4.892045	0.80333	27.3	0.99630955753262607	0.76020	0.98847	0.87641	D	AEFI	0.844599	0.76155	D	0.500994704409624	0.67147	5.043283	0.455697244047954	0.65083	4.779137	0.998650680048234	0.37392	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.449000	0.96765	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	17.167	0.86698	292	0.88363	Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.008152	0.014706	0.000000	0.008621	0.009146	0.003788	0.08333	831.83	34	chr3	121233639	.	G	A	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=233;ExcessHet=0;FS=3.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.031;SOR=1.308	GT:AD:DP:GQ:PL	0/1:25,34:59:99:842,0,522	5	0	1	0
chr3	121415935	121415935	G	T	exonic	STXBP5L	.	stopgain	STXBP5L:NM_001308330:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348344:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348345:exon25:c.G3193T:p.G1065X,STXBP5L:NM_001348343:exon26:c.G3265T:p.G1089X,STXBP5L:NM_014980:exon26:c.G3265T:p.G1089X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.538	0.56576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.577266	0.99092	42	0.99155819016829128	0.53959	0.99230	0.93150	D	AEFI	0.378140	0.46165	N	1.22195496931302	0.99726	25.852	1.07708222516889	0.99640	24.66283	0.999998425984378	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	9.940000	0.98890	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.087	0.93189	131	0.94738	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	227.83	33	chr3	121415935	.	G	T	227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.613;DP=247;ExcessHet=0;FS=58.935;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=1.59;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1090:.	5	0	1	0
chr3	121622528	121622528	A	C	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.A1099C:p.M367L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00738019184968	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs753295687	6.84e-06	6.84e-06	2.722e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	1.799e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05278	T	0.657	0.06576	T	0.002	0.09854	B	0.003	0.08700	B	0.000014	0.62929	D	0.185141	0.860815	0.28358	N	1.79	0.46772	L	0.96	0.42888	T	-0.26	0.11185	N	0.191	0.20925	-1.0354	0.18731	T	0.061	0.25310	T	10	0.03745386	0.02101	T	0.00738	0.19576	T	0.105	0.29889	0.351	0.34922	0.393159880135	0.38930	0.2531493736121035	0.25228	0.0875885386297	0.09886	0.397693455219	0.24748	T	0.015458	0.12960	T	-0.35193	0.04606	T	-0.540646	0.18234	T	0.210293471813202	0.20969	T	0.582642	0.21138	T	0.1544926	0.34964	0.14068247	0.33526	0.1544926	0.34964	0.14068247	0.33526	-1.837	0.02622	T	.	.	0.086	0.10787	B	.	.	1.254250	0.16513	12.59	0.67884851803530966	0.08489	0.21217	0.21323	N	AEFGBI	0.139406	0.26099	N	-0.619337882403867	0.18363	0.952812	-0.493485974826845	0.22332	1.212474	0.225577296667075	0.18406	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.61	3.07	0.34476	0.255000	0.18102	6.828000	0.56686	0.756000	0.94297	0.054000	0.21560	1.000000	0.68203	0.974000	0.55675	0.5618:0.2893:0.0:0.1488	6.176	0.19657	355	0.85216	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1926.83	46	chr3	121622528	.	A	C	1926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=316;ExcessHet=0;FS=0.672;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.107;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	5	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	133.65	65	chr3	121697608	.	C	T	133.65	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.9;DP=451;ExcessHet=0;FS=118.262;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.61;SOR=7.476	GT:AD:DP:GQ:PL	0/1:63,37:104:99:138,0,1079	1	0	1	4
chr3	121698889	121698889	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.C1394G:p.A465G,GOLGB1:NM_001366283:exon12:c.C1511G:p.A504G,GOLGB1:NM_001366284:exon12:c.C1394G:p.A465G,GOLGB1:NM_001256486:exon13:c.C1634G:p.A545G,GOLGB1:NM_001256487:exon13:c.C1517G:p.A506G,GOLGB1:NM_001366282:exon13:c.C1634G:p.A545G,GOLGB1:NM_004487:exon13:c.C1619G:p.A540G	.	444	1068	10	0	0	10	0.00465983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00259585	0.0019	0.0002	0.0003	0	0	0.0003	0.0023	0.0129	0.0015977	247	154602	rs201931896	0.0008	0.0008	0.0005	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	6.135e-05	0.0003	0.0004	0	0	0.0027	9.958e-05	0.0008	0.0110	0.0004	0.0004	0.0003	0.0006	0.0090	0.0004	0.0003	0.0068	0.0061	9.672e-05	0	6.569e-05	0.0003	0	0	0.0034	0.0002	0.0009	0.0090	0.138	0.26965	T	0.096	0.39340	T	0.019	0.27347	B	0.033	0.25678	B	0.008537	0.01209	N	2.551320	1	0.08975	N	1.79	0.46772	L	2.44	0.24656	T	-1.23	0.31170	N	0.044	0.02759	-0.9895	0.32727	T	0.092	0.35010	T	10	0.0055116713	0.00122	T	.	.	.	0.140	0.37593	.	.	0.409800938858	0.40592	0.055963666282335456	0.05537	0.104334685682	0.11803	0.229549348354	0.01935	T	0.017607	0.14333	T	-0.540753	0.00332	T	-0.539143	0.18380	T	0.00603764417651314	0.00066	T	0.609739	0.23774	T	0.035927054	0.04322	0.05874691	0.10910	0.035927054	0.04322	0.05874691	0.10909	-3.703	0.19643	T	.	.	0.098	0.17573	B	.;.;.;.	.;.;.;.	0.824074	0.11954	8.514	0.50764531149210801	0.04442	0.19297	0.20606	N	AEFBI	0.058137	0.10885	N	-0.522569134731959	0.21351	1.132484	-0.675429195802025	0.17576	0.935173	0.0430115102109138	0.14551	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	-0.137	0.12811	0.717000	0.25523	1.434000	0.26471	0.676000	0.76740	0.013000	0.18845	0.001000	0.17328	0.120000	0.19168	0.1727:0.1466:0.38:0.3008	1.241	0.01845	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.1667	1130.04	33	chr3	121698889	.	G	C	1130.04	.	AC=2;AF=0.167;AN=12;DP=228;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.24;SOR=1.542	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	1	0	0
chr3	122610693	122610693	C	T	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001113523:exon3:c.C506T:p.A169V,PARP15:NM_001308320:exon3:c.C506T:p.A169V	.	.	.	.	.	.	.	.	.	.	.	4043769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00234847065773	.	.	6.097e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs778219932	3.883e-05	3.694e-05	3.827e-05	3.94e-05	6.385e-05	3.042e-05	2.725e-05	3.49e-05	3.144e-05	6.385e-05	0	0	0	0	0	4.56e-05	5.206e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0	0.86	0.24277	T	0.164	0.55759	T	0.945	0.53279	P	0.77	0.56828	P	.	.	.	.	0.999992	0.08975	N	1.765	0.45800	L	1.9	0.23486	T	-1.72	0.42957	N	0.083	0.08646	-0.9890	0.32853	T	0.123	0.42568	T	9	0.07459238	0.11421	T	0.002348	0.04562	T	0.127	0.34888	.	.	0.17258766438	0.16869	0.12046131147675533	0.11973	0.128000787976	0.14431	0.288105845451	0.08646	T	0.002728	0.02125	T	-0.349759	0.04742	T	-0.442621	0.28516	T	0.120605712631022	0.14489	T	0.812119	0.46368	T	0.0760039	0.17162	0.09537028	0.22617	0.0760039	0.17161	0.09537028	0.22616	-2.82	0.08369	T	.	.	0.131	0.31177	B	.;.	.;.	0.414474	0.07854	4.550	0.99883653539762995	0.95892	0.17882	0.20027	N	AEFGBCI	0.094179	0.19046	N	0.0767654333716308	0.45382	2.795561	-0.0717219457422039	0.36563	2.129529	0.999999899568647	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.39	4.39	0.52211	1.172000	0.31517	-0.785000	0.07438	0.596000	0.33519	0.155000	0.23727	0.000000	0.08366	0.024000	0.12247	0.0:1.0:0.0:0.0	15.671	0.77034	485	0.77085	Macro domain|Macro domain|Macro domain;Macro domain|Macro domain|Macro 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	.	.	.	.	.	.	.	.	0.08333	914.83	34	chr3	122610693	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=238;ExcessHet=0;FS=2.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.184;SOR=0.465	GT:AD:DP:GQ:PL	0/1:31,34:65:99:925,0,791	5	0	1	0
chr3	123664192	123664192	C	T	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_001321309:exon22:c.G3370A:p.A1124T,MYLK:NM_053026:exon22:c.G3691A:p.A1231T,MYLK:NM_053028:exon22:c.G3691A:p.A1231T,MYLK:NM_053025:exon23:c.G3898A:p.A1300T,MYLK:NM_053027:exon23:c.G3898A:p.A1300T	Aortic aneurysm, familial thoracic 7, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	292143	not_provided|MYLK-related_disorder|Connective_tissue_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_7|not_specified|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MedGen:CN169374|MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.0155191224276	0.0005	0.00139776	0.0005	0.0012	0.0012	0.0001	0	0.0004	0.0011	0.0001	0.0004269	66	154602	rs149530842	0.0003	0.0003	0.0003	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	0.0009	0.0015	0.0004	0.0002	0	0.0024	0.0002	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0011	0	0.0010	0.0006	0	0	0.0034	0.0002	0.0024	0	0.434	0.11015	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.999997	0.08975	N	0.385	0.12166	N	-0.5	0.70480	T	-1.01	0.42957	N	0.311	0.35088	-0.9689	0.37427	T	0.186	0.53526	T	9	0.012942165	0.00276	T	0.015519	0.36297	T	0.044	0.11924	.	.	0.686144780852	0.68346	0.2795314669927721	0.27866	0.353807639457	0.37175	0.321122944355	0.13591	T	0.229573	0.69546	T	-0.393942	0.02536	T	-0.357661	0.38323	T	0.0108711017629969	0.00155	T	0.889211	0.62701	D	0.06057271	0.12446	0.07655974	0.16970	0.06057271	0.12445	0.07655974	0.16970	-8.977	0.68013	D	0.07864801712547946	0.03798	0.310	0.53755	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.140922	0.15283	11.73	0.97961082373753172	0.37180	0.06250	0.12240	N	AEFDGBIJ	0.102258	0.20518	N	-0.697785081741722	0.16084	0.8163969	-0.632777627025141	0.18654	0.9974163	0.999996069193786	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	4.86	2.68	0.30839	0.916000	0.28273	1.383000	0.26051	0.599000	0.40250	0.364000	0.25875	0.791000	0.26863	0.126000	0.19410	0.0:0.7317:0.0:0.2683	8.985	0.35151	541	0.72942	.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0.005539	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	379.83	34	chr3	123664192	.	C	T	379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=209;ExcessHet=0;FS=1.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.936;SOR=0.914	GT:AD:DP:GQ:PL	0/1:20,18:38:99:390,0,423	5	0	1	0
chr3	123969175	123969175	G	A	exonic	ROPN1	.	nonsynonymous SNV	ROPN1:NM_001317775:exon5:c.C343T:p.P115S,ROPN1:NM_001317774:exon6:c.C619T:p.P207S,ROPN1:NM_017578:exon7:c.C619T:p.P207S	.	428	1086	7	1	0	9	0.00412655	.	.	.	3309765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.00831542920908	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs372440685	0.0001	0.0001	8.032e-05	0.0001	0.0019	9.05e-05	8.533e-05	0.0011	0.0008	5.975e-05	2.236e-05	0	0	1.872e-05	0.0019	8.184e-05	0.0002	0.0004	8.54e-05	8.532e-05	0.0001	5.374e-05	0.0002	4.956e-05	3.962e-05	9.051e-05	7.014e-05	0	0	6.537e-05	0	0	0	0.0034	0.0002	0	0	0.022	0.48642	D	0.127	0.35082	T	1.0	0.90584	D	0.998	0.88582	D	0.000924	0.41028	D	0.167640	0.992174	0.41574	D	1.155	0.29575	L	1.85	0.24472	T	-1.41	0.34795	N	0.242	0.30347	-1.1060	0.03437	T	0.094	0.35711	T	10	0.2147677	0.38008	T	0.008315	0.22004	T	0.215	0.50805	.	.	0.642644294093	0.63969	0.4296673196248561	0.42883	0.615569297127	0.56032	0.599603533745	0.52848	T	0.002711	0.02105	T	-0.277625	0.10922	T	-0.304501	0.44247	T	0.410415530204773	0.29334	T	0.808919	0.45897	T	0.117149815	0.27622	0.21806064	0.46495	0.117149815	0.27621	0.21806064	0.46494	-2.914	0.09284	T	.	.	0.136	0.29588	B	.;.;.	.;.;.	3.909503	0.56999	23.8	0.99879493766552963	0.95572	0.89809	0.50517	D	AEFBI	0.532700	0.55246	D	0.507838266394222	0.67550	5.09692	0.535349637165123	0.70385	5.497443	0.999590540850768	0.40745	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	4.94	0.64645	5.001000	0.63693	11.687000	0.94301	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	15.541	0.75790	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.08333	1073.83	37	chr3	123969175	.	G	A	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.903;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.478;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	5	0	1	0
chr3	124562843	124562843	C	T	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon34:c.C4930T:p.L1644F,KALRN:NM_001322988:exon34:c.C4930T:p.L1644F	.	400	1111	11	0	0	11	0.00492611	0.1881	0.314	.	3214389	KALRN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0022	0.00119808	0.0055	0.0002	0.0020	0	0.0305	0.0063	0.0083	0.0031	0.0030271	468	154602	rs186739814	0.0031	0.0026	0.0030	0.0031	0.0047	0.0030	0.0029	0.0032	0.0027	0.0003	0.0010	0.0004	0	0.0172	0.0047	0.0029	0.0026	0.0028	0.0032	0.0031	0.0026	0.0037	0.0031	0.0029	0.0028	0.0028	0.0027	0.0003	0.0110	0.0009	0.0003	0	0.0202	0	0.0031	0.0033	0.0017	0.125	0.27310	T	0.23	0.25135	T	.	.	.	.	.	.	0.000037	0.55875	D	0.000000	0.983825	0.43340	D	.	.	.	0.18	0.60361	T	-2.31	0.51319	N	0.694	0.69913	-0.7264	0.59145	T	0.207	0.56581	T	10	0.0081778765	0.00185	T	.	.	.	0.214	0.50650	.	.	0.844262093438	0.84276	.	.	.	.	0.822305738926	0.85382	D	0.023719	0.18055	T	-0.280489	0.10615	T	-0.174726	0.57009	T	0.0307630209401881	0.02108	T	0.987701	0.95793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.70779	P	.	.	4.693780	0.75243	26.3	0.99636955558844742	0.76387	0.93450	0.58249	D	AEFDBI	0.718484	0.66967	D	0.524561361663672	0.68547	5.232198	0.477969147557332	0.66531	4.964465	0.999990081749376	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	6.024000	0.70506	7.578000	0.60885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.8313:0.0:0.1687	6.149	0.19517	669	0.61081	.	.	.	.	.	.	Likely benign	0	0	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	412.83	33	chr3	124562843	.	C	T	412.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.037;DP=209;ExcessHet=0;FS=7.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.456;SOR=2.133	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1242	5	0	1	0
chr3	124796649	124796649	C	T	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.G973A:p.G325R,ITGB5:NM_001354764:exon10:c.G1108A:p.G370R,ITGB5:NM_001354765:exon10:c.G1108A:p.G370R,ITGB5:NM_002213:exon10:c.G1432A:p.G478R	.	422	1085	15	0	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0022	0.00519169	0.0049	0.0013	0.0049	0.0002	0.0017	0.0037	0.0078	0.0154	0.0045148	698	154602	rs61736433	0.0036	0.0036	0.0031	0.0040	0.0137	0.0035	0.0035	0.0131	0.0128	0.0004	0.0033	0.0090	0.0001	0.0044	0.0037	0.0028	0.0041	0.0137	0.0029	0.0029	0.0028	0.0030	0.0141	0.0027	0.0026	0.0114	0.0104	0.0006	0.0044	0.0037	0.0104	0.0002	0.0039	0	0.0029	0.0052	0.0141	0.0	0.91255	D	0.005	0.72224	D	0.944	0.53183	P	0.253	0.39112	B	0.002152	0.37138	N	0.306558	0.999579	0.47641	D	1.935	0.51832	L	-2.86	0.91421	D	-4.93	0.81755	D	0.407	0.44761	-0.2440	0.76521	T	0.399	0.75088	T	10	0.0063564777	0.00144	T	.	.	.	0.483	0.77271	0.472	0.54699	0.98084292595	0.98063	0.706664902505345	0.70608	0.27803205231	0.30289	0.472408592701	0.35011	T	0.787822	0.94458	D	-0.210753	0.19274	T	-0.0638318	0.66062	T	0.0529384029627064	0.06009	T	0.785921	0.42389	T	0.3422035	0.56454	0.4849886	0.70189	0.3422035	0.56454	0.4849886	0.70190	-8.399	0.63758	D	.	.	0.126	0.33039	B	.;.	.;.	2.014779	0.25599	16.82	0.9966241162176005	0.78011	0.42617	0.26917	N	AEFDBHCI	0.220960	0.34564	N	-0.178181209886047	0.34045	1.938495	-0.306123564589296	0.27901	1.551533	0.999999920259977	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.48	0.38946	1.066000	0.30215	0.385000	0.17824	0.599000	0.40250	0.493000	0.26902	0.003000	0.18671	0.017000	0.10941	0.0:0.8558:0.0:0.1442	11.520	0.49794	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.007576	0.08333	985.83	65	chr3	124796649	.	C	T	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.125;DP=444;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.582;SOR=0.591	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	5	0	1	0
chr3	125933674	125933674	T	C	exonic	ALG1L	.	startloss	ALG1L:NM_001015050:exon2:c.A1G:p.M1?,ALG1L:NM_001385067:exon2:c.A1G:p.M1?,ALG1L:NM_001385068:exon2:c.A1G:p.M1?,ALG1L:NM_001195223:exon3:c.A61G:p.M21V,ALG1L:NM_001385064:exon3:c.A61G:p.M21V,ALG1L:NM_001385066:exon3:c.A61G:p.M21V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	.	7.834e-05	0	0	0	0	1.593e-05	0	0.0005	5.82e-05	9	154602	rs767940254	2.807e-05	2.805e-05	1.363e-05	4.266e-05	0.0004	2.088e-05	1.88e-05	0.0003	0.0002	0	2.237e-05	0.0001	0	0	0.0004	8.995e-07	1.658e-05	0.0004	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.317	0.13699	T	0.493	0.11443	T	0.0	0.02946	B	0.0	0.01387	B	0.126606	0.02772	N	1.603170	0.70777	0.33487	D	.	.	.	-0.35	0.68616	T	-0.06	0.07882	N	0.111	0.09772	-0.8744	0.50196	T	0.148	0.47362	T	9	0.3986923	0.59800	T	0.007281	0.19307	T	0.255	0.56562	0.948	0.99368	0.104622674875	0.10061	0.352967849344222	0.35210	.	.	.	.	.	0.00168	0.01111	T	-0.451223	0.01111	T	-0.579951	0.14549	T	0.0753070414066315	0.09376	T	0.119188	0.65058	T	0.04980763	0.08902	0.04507626	0.05985	0.04980763	0.08902	0.04507626	0.05985	-6.262	0.48421	T	.	.	0.062	0.01252	B	.;.	.;.	0.160417	0.05509	1.974	0.46521274443205812	0.03732	0.00969	0.03707	N	AEFDBI	0.022064	0.01057	N	-1.0532885806067	0.07523	0.3497645	-1.14279240724524	0.06898	0.3336323	0.253754211965251	0.18708	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	2.11	0.674	0.17114	-0.455000	0.06837	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.2512:0.0:0.0:0.7488	5.361	0.15391	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000579	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.08333	1335.83	46	chr3	125933674	.	T	C	1335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.699;DP=308;ExcessHet=0;FS=0.697;MLEAC=1;MLEAF=0.083;MQ=59.96;MQRankSum=0.976;QD=11.23;ReadPosRankSum=-1.171;SOR=0.835	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1234	5	0	1	0
chr3	126056501	126056501	G	A	exonic	SLC41A3	.	stopgain	SLC41A3:NM_001008487:exon1:c.C52T:p.R18X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.307e-05	0	0	0	0	3.018e-05	0	0.0005	6.47e-05	10	154602	rs752352667	4.652e-05	4.652e-05	2.995e-05	6.326e-05	0.0005	3.727e-05	3.411e-05	0.0004	0.0004	0	2.236e-05	0.0001	0	0	0.0003	1.439e-05	1.656e-05	0.0005	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.317236	0.07126	T	-0.388917	0.34678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.010198	0.25543	16.80	0.99777034723676394	0.86433	0.46199	0.27707	N	AEFGBCI	0.514638	0.54193	D	-0.133822087013655	0.35924	2.069815	-0.0827057193206265	0.36105	2.096967	0.999978467010098	0.50053	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.2	3.19	0.35720	0.688000	0.25103	1.939000	0.29818	-0.196000	0.09079	0.977000	0.34929	0.026000	0.21063	0.992000	0.67800	0.1144:0.0:0.4042:0.4813	5.464	0.15929	855	0.34697	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1060.83	55	chr3	126056501	.	G	A	1060.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.869;DP=344;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.585;SOR=1.007	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	0
chr3	126988711	126988711	C	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.C118G:p.P40A	.	420	1098	4	0	0	4	0.00181818	.	.	.	3207030	PLXNA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.055	0.00428102546057	0.0002	0.00139776	0.0008	0.0001	8.843e-05	0	0	0	0	0.0082	0.0007697	119	154602	rs372314843	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0007	3.673e-06	0.0004	0.0073	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.217e-05	0	0	0	0	0	0	0	0	0.0070	0.303	0.14352	T	0.403	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	0.599590	0.05638	N	1.299200	1	0.08975	N	1.905	0.50856	L	2.99	0.09262	T	-0.61	0.18042	N	0.071	0.04426	-0.9607	0.39050	T	0.025	0.10733	T	10	0.0051888525	0.00113	T	0.004281	0.10373	T	0.055	0.15663	.	.	0.138757226776	0.13463	0.38034052077590524	0.37949	0.409882801041	0.41793	0.37333458662	0.21309	T	0.16068	0.50462	T	-0.679731	0.00048	T	-0.746274	0.03633	T	0.0264546568078447	0.01468	T	0.214479	0.02649	T	0.017260943	0.00258	0.019887466	0.00108	0.017260943	0.00258	0.019887466	0.00108	-2.929	0.09436	T	.	.	0.050	0.00136	B	.	.	-0.756008	0.01197	0.059	0.42526470373872266	0.03141	0.07777	0.13775	N	AEFBCI	0.041360	0.06278	N	-1.10121637534329	0.06622	0.3053551	-1.2325817681478	0.05394	0.256904	0.999954829086511	0.48110	0.718356	0.82227	0	0.708844	0.79440	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	3.56	-4.4	0.03349	-0.074000	0.11410	-1.499000	0.05301	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2224:0.4526:0.2342:0.0908	3.927	0.08767	946	0.12043	Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1249.83	53	chr3	126988711	.	C	G	1249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.343;DP=297;ExcessHet=0;FS=3.935;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.03;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	5	0	1	0
chr3	127012087	127012087	A	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon9:c.A2242G:p.I748V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00615808607693	.	0.000199681	3.322e-05	0	0.0002	0	0	3.031e-05	0	0	3.23e-05	5	154602	rs188507219	2.737e-05	2.736e-05	2.996e-05	2.476e-05	0.0004	2.063e-05	1.817e-05	0.0003	0.0002	0	0.0004	0	0	0	0	1.888e-05	1.656e-05	0	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0014	0.0012	0	0	0.0019	0	0	0	0	4.41e-05	0	0	0.203	0.20154	T	0.229	0.25210	T	0.005	0.12996	B	0.007	0.12992	B	0.000440	0.44522	D	0.094532	0.999415	0.46970	D	2.25	0.63811	M	2.84	0.10674	T	-0.63	0.18459	N	0.299	0.33796	-1.0816	0.07041	T	0.028	0.12190	T	10	0.045954674	0.03728	T	0.006158	0.16141	T	0.044	0.11924	.	.	0.344740032716	0.34089	0.30376797811991946	0.30289	0.375697654196	0.39028	0.543597042561	0.44953	T	0.115337	0.43385	T	-0.392576	0.02589	T	-0.461136	0.26476	T	0.0438537357551289	0.04393	T	0.757524	0.38090	T	0.055636298	0.10840	0.058268316	0.10737	0.055636298	0.10840	0.058268316	0.10737	-5.3	0.39943	T	.	.	0.171	0.37464	B	.	.	1.795033	0.22820	15.77	0.98646141287988387	0.44123	0.80187	0.39892	D	AEFDBCI	0.351930	0.44487	N	-0.279170263596752	0.29954	1.665737	-0.194015215355137	0.31757	1.800152	0.999950513638173	0.48110	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.87	2.67	0.30756	3.821000	0.55401	1.751000	0.28475	0.691000	0.84096	1.000000	0.71638	0.388000	0.24649	0.986000	0.61781	0.832:0.168:0.0:0.0	10.185	0.42167	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	672.83	33	chr3	127012087	.	A	G	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.095;SOR=0.582	GT:AD:DP:GQ:PL	0/1:28,26:54:99:683,0,736	5	0	1	0
chr3	127677531	127677531	C	T	exonic	ABTB1	.	stopgain	ABTB1:NM_032548:exon9:c.C403T:p.R135X,ABTB1:NM_172027:exon9:c.C829T:p.R277X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.643e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs751831462	1.71e-05	1.71e-05	1.089e-05	2.338e-05	0.0003	1.174e-05	9.92e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.888e-05	1.656e-05	1.159e-05	3.285e-05	3.283e-05	2.57e-05	4.035e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000073	0.52346	D	0.169729	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.485	0.53181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549807	0.95797	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.215175	0.98626	40	0.99796483607129383	0.88194	0.90436	0.51610	D	AEFDBI	0.159846	0.28570	N	0.831233150744177	0.88014	9.422392	0.69432426285165	0.81945	7.647367	0.999999999063772	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.17	5.17	0.70848	3.911000	0.56091	5.828000	0.50139	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	18.282	0.90041	765	0.49814	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.08333	1285.83	38	chr3	127677531	.	C	T	1285.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.416;DP=277;ExcessHet=0;FS=3.943;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.68;SOR=1.111	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1472	5	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	341.96	59	chr3	128055734	.	T	C	341.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.037;DP=303;ExcessHet=3.1439;FS=106.99;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=0.655;SOR=7.35	GT:AD:DP:GQ:PL	0/1:38,14:52:99:133,0,785	2	0	4	0
chr3	128264663	128264663	C	T	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon4:c.C668T:p.P223L	.	422	1059	41	0	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0004	0.00219649	0.0020	0.0002	0.0016	0	0.0020	0.0007	0.0055	0.0094	0.0017205	266	154602	rs142548867	0.0011	0.0011	0.0008	0.0014	0.0220	0.0010	0.0010	0.0189	0.0177	0.0002	0.0011	0.0003	0.0001	0.0017	0.0220	0.0003	0.0016	0.0101	0.0008	0.0008	0.0007	0.0010	0.0115	0.0007	0.0007	0.0090	0.0082	0.0001	0	0.0007	0	0	0.0013	0.0102	0.0005	0.0024	0.0115	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.474	0.46883	P	0.000260	0.46924	D	0.223006	0.999902	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-6.54	0.91786	D	0.441	0.47949	-0.8253	0.53600	T	0.154	0.48464	T	10	0.01511088	0.00317	T	.	.	.	0.198	0.48105	.	.	0.69078259148	0.68812	0.4082079854758552	0.40736	0.407012530583	0.41570	0.438673913479	0.30395	T	0.469336	0.80291	T	-0.445083	0.01207	T	-0.404431	0.32870	T	0.100143069804293	0.12373	T	.	.	.	0.55592567	0.70284	0.27926272	0.53893	0.55592567	0.70286	0.27926272	0.53892	-10.686	0.77907	D	.	.	0.126	0.26794	B	.	.	5.229074	0.87771	29.4	0.99511165797480594	0.68618	0.89978	0.50805	D	AEFDBI	0.366235	0.45412	N	0.185205174866161	0.50490	3.238374	0.164767691787827	0.47928	3.015957	0.999442695620509	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.08	4.21	0.48984	4.245000	0.58529	7.652000	0.63756	0.549000	0.26987	0.970000	0.34288	1.000000	0.68203	0.864000	0.41028	0.1475:0.7764:0.0:0.0761	9.689	0.39283	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.000000	0.014946	0.046784	0.050000	0.008621	0.003049	0.011364	0.08333	1206.83	35	chr3	128264663	.	C	T	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=285;ExcessHet=0;FS=5.351;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.841;SOR=0.851	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr3	129586630	129586630	G	C	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.C1578G:p.D526E	.	419	1101	2	0	0	2	0.000907441	.	.	.	2824912	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0386893778334	0.0008	0.000399361	0.0015	0.0005	0.0010	0	0	0.0024	0	0.0010	0.0006274	97	154602	rs142772519	0.0019	0.0019	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	6.047e-05	0.0004	3.949e-05	0	5.891e-05	0.0005	0.0023	0.0010	0.0008	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0013	0	0.0002	0	0	0.0016	0.0009	0.0004	0.002	0.72154	D	0.031	0.53788	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	2.31	0.66127	M	3.63	0.04353	T	-2.65	0.64826	D	0.589	0.60918	-1.1565	0.00844	T	0.033	0.13986	T	10	0.028432906	0.00975	T	0.038689	0.58371	D	0.207	0.49555	0.39	0.41279	0.639857600353	0.63688	0.8155507093143118	0.81511	0.944256503279	0.72345	0.578715741634	0.49905	T	0.700177	0.91360	D	-0.306123	0.08094	T	-0.217116	0.53014	T	0.0757888182997704	0.09440	T	0.80302	0.45008	T	0.44613156	0.63796	0.45053798	0.68025	0.44613156	0.63796	0.45053798	0.68025	-8.158	0.62141	D	.	.	0.785	0.83001	P	.;.	.;.	3.956459	0.57992	23.9	0.99696368639599975	0.80316	0.89422	0.49877	D	AEFGBHCI	0.413991	0.48344	N	0.328904914058956	0.57636	3.931835	0.250780281641342	0.52693	3.442532	0.999999999895008	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.36	2.53	0.29594	1.961000	0.40056	5.022000	0.46754	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.338:0.0:0.662:0.0	7.697	0.27764	548	0.72362	Sema domain|Sema domain;Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	794.83	44	chr3	129586630	.	G	C	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=280;ExcessHet=0;FS=4.116;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.486;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	5	0	1	0
chr3	130384836	130384836	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon5:c.T1333C:p.F445L,COL6A5:NM_153264:exon5:c.T1333C:p.F445L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.033496901402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.157e-07	2.052e-06	0	1.451e-06	9.277e-07	0	0	.	.	0	0	0	0	0	0	9.277e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.09430	T	0.491	0.11515	T	.	.	.	.	.	.	.	.	.	.	0.999003	0.45857	D	.	.	.	-1.79	0.83815	D	-3.67	0.70191	D	0.518	0.54845	0.131	0.84719	D	0.586	0.85158	D	9	0.7736105	0.77280	D	0.033497	0.55023	D	0.584	0.83305	0.822	0.93461	0.695080635467	0.69245	0.25299334779163424	0.25213	0.0466241647424	0.05070	0.599980771542	0.52901	T	0.334865	0.70455	T	0.0753022	0.61486	D	-0.12961	0.61005	T	0.323202004951066	0.25951	T	0.369563	0.08694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	0.85202	P	.	.	2.621112	0.34067	19.52	0.91552691467780734	0.20830	0.93838	0.59337	D	AEFBHCI	0.723258	0.67293	D	0.292992626821066	0.55794	3.743386	0.299700073977007	0.55523	3.715174	0.999999999908205	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	4.242000	0.58509	1.899000	0.29569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.0:0.0:1.0	15.181	0.72644	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	677.83	36	chr3	130384836	.	T	C	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.19;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-2.074;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	5	0	1	0
chr3	130414129	130414129	C	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon22:c.C4759A:p.Q1587K,COL6A5:NM_153264:exon22:c.C4759A:p.Q1587K	.	426	1092	4	0	0	4	0.00182815	0.8203	0.566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0932164748817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746024647	4.297e-06	4.788e-06	1.414e-06	7.258e-06	0.0002	1.55e-06	1.02e-06	7.4e-07	2.1e-07	0	0	0	0	2.03e-05	0.0002	2.787e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.979292	0.25191	N	.	.	.	-3.21	0.93291	D	-1.71	0.40660	N	0.283	0.32037	-0.2668	0.75899	T	0.648	0.87727	D	9	0.47370636	0.60016	T	0.093216	0.76033	D	0.401	0.71479	0.45	0.51121	0.552205712323	0.54877	0.4551588952909204	0.45433	0.201967781584	0.22611	0.371863365173	0.21099	T	0.337672	0.70703	T	0.0919442	0.63408	D	-0.105705	0.62953	T	0.682610094547272	0.39907	D	0.909209	0.67884	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	4.464694	0.69523	25.4	0.98484312254113004	0.42014	0.75420	0.36926	D	AEFBI	0.397867	0.47377	N	-0.102216163341842	0.37297	2.167833	0.0113489334197086	0.40240	2.398442	2.80486503935794E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.82	0.43153	2.160000	0.41975	4.799000	0.44955	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.837000	0.39485	0.0:0.8014:0.1986:0.0	10.384	0.43312	370	0.84343	.	.	.	.	.	.	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	941.83	33	chr3	130414129	.	C	A	941.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=265;ExcessHet=0;FS=3.132;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.172;SOR=1.186	GT:AD:DP:GQ:PL	0/1:38,38:76:99:952,0,828	5	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	961.52	32	chr3	130421335	.	G	A	961.52	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.175;DP=236;ExcessHet=1.383;FS=182.965;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.188;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,14:46:87:.:.:404,0,932:.	3	0	1	2
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	961.52	32	chr3	130421335	.	G	C	961.52	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.175;DP=236;ExcessHet=1.383;FS=182.965;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.188;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,6:46:87:.:.:404,87,1030:.	2	0	2	2
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1026.26	32	chr3	130421337	.	T	C	1026.26	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.712;DP=234;ExcessHet=1.383;FS=182.965;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.211;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,20:46:99:0|1:130421337_T_C:460,0,932:130421337	1	0	3	2
chr3	130661886	130661886	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6080A:p.S2027N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0321920457489	8.3e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001617	25	154602	rs199779143	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0002	0.0003	0	0	0.0021	0.0001	0.0002	1.159e-05	0.0001	0.0001	0.0002	6.724e-05	0.0002	7.091e-05	5.747e-05	9.046e-05	7.01e-05	2.413e-05	0	0.0001	0.0009	0	0	0	0.0002	0	0	0.342	0.12632	T	0.335	0.18286	T	0.996	0.68779	D	0.993	0.81110	D	.	.	.	.	0.998509	0.22111	N	1.74	0.45129	L	-2.54	0.89496	D	-0.82	0.22508	N	0.394	0.43514	-0.0589	0.81017	T	0.717	0.90298	D	9	0.15673321	0.29512	T	0.032192	0.54080	D	0.271	0.58633	.	.	0.57371630461	0.57039	0.37236279525889726	0.37150	0.356238940611	0.37372	0.421511918306	0.28045	T	0.046897	0.27563	T	-0.25657	0.13305	T	-0.305998	0.44088	T	0.113791964760386	0.13812	T	0.572743	0.20478	T	0.10073546	0.23789	0.12802047	0.30806	0.10073546	0.23788	0.12802047	0.30805	-7.308	0.56253	T	.	.	0.133	0.28636	B	.	.	3.087749	0.41560	21.4	0.99678270481810405	0.79043	0.17523	0.19874	N	AEFBI	0.082085	0.16616	N	-0.0347226006894586	0.40288	2.389967	-0.000142584150386857	0.39710	2.358661	0.0971644692074117	0.16272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.15	0.70287	0.698000	0.25249	8.591000	0.77687	0.676000	0.76740	0.330000	0.25589	1.000000	0.68203	0.148000	0.20235	0.0:0.254:0.6146:0.1314	11.276	0.48399	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.000000	0.08333	1968.83	33	chr3	130661886	.	G	A	1968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.675;DP=299;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.331;SOR=0.642	GT:AD:DP:GQ:PL	0/1:49,74:123:99:1979,0,1125	5	0	1	0
chr3	131381814	131381814	G	T	exonic	NUDT16	.	nonsynonymous SNV	NUDT16:NM_001171906:exon1:c.G10T:p.A4S,NUDT16:NM_152395:exon1:c.G10T:p.A4S	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0084107981931	.	0.000798722	0.0075	0.0008	0.0082	0.0013	0	0.0086	0	0.0084	0.0015782	244	154602	rs566228366	0.0015	0.0015	0.0014	0.0017	0.0062	0.0015	0.0015	0.0058	0.0056	0.0002	0.0008	0.0143	5.371e-05	0.0002	0.0012	0.0010	0.0024	0.0062	0.0011	0.0011	0.0010	0.0012	0.0044	0.0010	0.0009	0.0029	0.0025	0.0002	0	0.0011	0.0147	0	0.0003	0	0.0010	0.0019	0.0044	1.0	0.20988	T	0.68	0.31629	T	.	.	.	.	.	.	0.270033	0.03766	N	1.689800	1	0.20412	N	-0.145	0.04423	N	.	.	.	0.31	0.04022	N	0.088	0.09914	-1.0824	0.06890	T	0.040	0.17404	T	7	0.0043887794	0.00089	T	0.008411	0.22257	T	0.005	0.00259	.	.	0.0762999501168	0.06990	0.5786727768930194	0.57796	0.385955024302	0.39890	0.582348942757	0.50415	T	0.00717	0.06585	T	-0.640227	0.00083	T	-0.689667	0.06409	T	0.00926562111233584	0.00118	T	0.325967	0.06723	T	0.124960646	0.29307	0.08965003	0.20978	0.124960646	0.29306	0.08965003	0.20977	-4.308	0.28288	T	.	.	0.079	0.12084	B	.;.	.;.	-0.530426	0.01771	0.135	0.65223250361463281	0.07712	0.12321	0.17197	N	ALL	0.049896	0.08668	N	-1.15170376296247	0.05752	0.2630475	-1.32922885384888	0.04057	0.1905713	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.7	-4.56	0.03187	-1.228000	0.03057	-1.515000	0.05266	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.188:0.1298:0.2418:0.4403	1.190	0.01749	858	0.34001	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003067	0.000000	0.002732	0.002976	0.000000	0.000000	0.003125	0.003817	0.08333	341.83	25	chr3	131381814	.	G	T	341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.817;DP=159;ExcessHet=0;FS=4.501;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.353;SOR=2.007	GT:AD:DP:GQ:PL	0/0:21,0:21:62:0,62,594	5	0	1	0
chr3	132477828	132477828	G	A	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon23:c.G2485A:p.D829N,DNAJC13:NM_001329126:exon24:c.G2500A:p.D834N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.226415094877	.	0.000199681	8.271e-06	0	0	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs540755282	2.738e-06	2.736e-06	0	5.505e-06	3.488e-05	6.4e-07	4.3e-07	9.27e-06	4.57e-06	0	0	0	0	0	0	0	1.657e-05	3.488e-05	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.077	0.34095	T	0.095	0.39492	T	0.994	0.66517	D	0.755	0.56206	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	-3.8	0.95696	D	-3.85	0.72353	D	0.873	0.87049	0.805	0.94469	D	0.871	0.95704	D	10	0.6988178	0.72313	D	0.226415	0.88043	D	0.692	0.88820	0.46	0.52753	0.66992744583	0.66714	0.5837737883947802	0.58306	0.362154317128	0.37875	0.851346731186	0.89817	D	0.190219	0.54468	T	0.0795329	0.61987	D	-0.022903	0.68837	D	0.889923751354218	0.54068	D	0.956704	0.83523	D	0.4580169	0.64547	0.36535782	0.61886	0.4580169	0.64548	0.36535782	0.61886	-7.242	0.55782	T	.	.	0.275	0.50835	B	.	.	5.045280	0.84001	28.2	0.9991533097645815	0.98379	0.99309	0.94295	D	AEFBI	0.894913	0.83440	D	0.72483228940008	0.81262	7.480679	0.751741828801117	0.86287	8.841105	0.999999999999046	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.336000	0.96435	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.512	0.95136	818	0.41518	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	875.83	36	chr3	132477828	.	G	A	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.284;DP=232;ExcessHet=0;FS=3.778;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.07;SOR=1.375	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	1	0
chr3	133811157	133811157	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G368C:p.S123T,SRPRB:NM_021203:exon5:c.G368C:p.S123T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.016642363189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.054	0.47097	T	0.942	0.52977	P	0.644	0.52249	P	0.000026	0.55875	D	0.155855	1	0.81001	D	2.305	0.65957	M	2.48	0.14657	T	-1.32	0.32991	N	0.492	0.52563	-1.1749	0.00450	T	0.063	0.26279	T	10	0.5695572	0.65242	D	0.016642	0.37992	T	0.158	0.41098	0.531	0.63855	0.700125190599	0.69753	0.5778745801934572	0.57716	0.287765702557	0.31178	0.546562790871	0.45372	T	0.044418	0.26811	T	-0.000832996	0.51538	T	-0.238973	0.50899	T	0.659820669470881	0.38888	D	0.668433	0.27736	T	0.10739064	0.25393	0.16899224	0.38901	0.10739064	0.25393	0.16899224	0.38900	-7.988	0.60989	D	.	.	0.221	0.45161	B	.	.	4.407465	0.68149	25.2	0.98109481766435624	0.38343	0.99441	0.96068	D	AEFBI	0.873379	0.79571	D	0.636013805060949	0.75467	6.31093	0.666844554068866	0.79870	7.174737	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.265000	0.77842	9.797000	0.81675	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	79.83	33	chr3	133811157	.	G	C	79.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.338;DP=323;ExcessHet=0;FS=122.55;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=1.49;SOR=6.803	GT:AD:DP:GQ:PL	0/1:113,23:142:90:90,0,4243	5	0	1	0
chr3	133811163	133811163	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G374C:p.R125T,SRPRB:NM_021203:exon5:c.G374C:p.R125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.080248268715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	1	0.81001	D	2.465	0.71551	M	1.64	0.27822	T	-5.99	0.89401	D	0.971	0.98167	-0.6921	0.60810	T	0.217	0.57967	T	10	0.98317224	0.98439	D	0.080248	0.73418	D	0.593	0.83802	0.911	0.98230	0.666577489966	0.66377	0.6595841042932219	0.65895	0.981204246999	0.73746	0.735932707787	0.72374	T	0.302427	0.67483	T	0.274107	0.80805	D	0.155959	0.80558	D	0.9972163438797	0.91033	D	0.931007	0.74365	D	0.7757549	0.82394	0.7889489	0.87580	0.7757549	0.82395	0.7889489	0.87581	-15.17	0.96239	D	.	.	0.996	0.95886	P	.	.	6.145521	0.94664	34	0.986594790397188	0.44303	0.99798	0.99538	D	AEFBI	0.919974	0.89128	D	0.884315895857466	0.90969	10.65269	0.862540314803169	0.93726	12.23806	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.317000	0.95419	11.685000	0.94275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	61.83	33	chr3	133811163	.	G	C	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.867;DP=365;ExcessHet=0;FS=88.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.908;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,23:143:72:0|1:133811163_G_C:72,0,4288:133811163	5	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S,SRPRB:NM_021203:exon5:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	65.7	33	chr3	133811164	.	G	C	65.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.324;DP=483;ExcessHet=0;FS=87.297;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=0.865;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,23:142:75:0|1:133811163_G_C:75,0,4281:133811163	4	0	1	1
chr3	136855578	136855578	A	G	exonic	SLC35G2	.	nonsynonymous SNV	SLC35G2:NM_001097599:exon2:c.A1118G:p.Y373C,SLC35G2:NM_001097600:exon2:c.A1118G:p.Y373C,SLC35G2:NM_025246:exon2:c.A1118G:p.Y373C	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0016	0.00299521	0.0024	0.0002	0.0014	0	0.0002	0.0016	0.0033	0.0096	0.0021798	337	154602	rs140456008	0.0015	0.0015	0.0013	0.0018	0.0098	0.0015	0.0015	0.0092	0.0090	0.0002	0.0013	0.0036	2.519e-05	0.0001	0.0040	0.0010	0.0017	0.0098	0.0013	0.0013	0.0013	0.0014	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0022	0.0035	0.0004	0.0004	0.0034	0.0015	0.0009	0.0089	0.109	0.29288	T	0.176	0.29843	T	0.941	0.52883	P	0.814	0.58796	P	0.000113	0.50451	D	0.138683	1	0.81001	D	1.25	0.31749	L	0.65	0.52642	T	-1.83	0.42957	N	0.311	0.35194	-0.7761	0.56520	T	0.209	0.56879	T	10	0.008176893	0.00185	T	.	.	.	0.261	0.57352	.	.	0.41337360676	0.40951	0.8087693011032003	0.80831	0.168846747841	0.19038	0.659198641777	0.61294	T	0.142953	0.47881	T	-0.0766298	0.40262	T	0.124257	0.78516	D	0.0505479880015484	0.05596	T	0.892511	0.62902	D	0.093904436	0.22065	0.10239552	0.24541	0.093904436	0.22065	0.10239552	0.24541	-6.292	0.48658	T	.	.	0.074	0.05979	B	.;.	.;.	2.998979	0.40067	21.1	0.95649811999670209	0.27461	0.96100	0.67533	D	AEFDBI	0.800336	0.72635	D	0.508805458413673	0.67608	5.104481	0.515525171385735	0.69034	5.303036	0.999997934410551	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.93	4.75	0.59954	5.888000	0.69501	8.069000	0.76432	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8666:0.0:0.0:0.1334	11.600	0.50254	713	0.56348	EamA domain;EamA 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	0.005035	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.015152	0.08333	2176.83	86	chr3	136855578	.	A	G	2176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=512;ExcessHet=0;FS=1.375;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.05;SOR=0.551	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	5	0	1	0
chr3	138062900	138062900	G	-	exonic	DZIP1L	.	frameshift deletion	DZIP1L:NM_173543:exon16:c.2220delC:p.K741Sfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	819.79	40	chr3	138062899	.	TG	T	819.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=233;ExcessHet=0;FS=3.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.876;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1185:.	5	0	1	0
chr3	138062901	138062901	G	C	exonic	DZIP1L	.	nonsynonymous SNV	DZIP1L:NM_173543:exon16:c.C2219G:p.P740R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00683887302911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.04	0.50809	D	0.994	0.66517	D	0.865	0.61524	P	0.004857	0.33331	N	0.200964	1	0.08975	N	2.52	0.73523	M	2.47	0.14783	T	-2.48	0.54059	N	0.142	0.14196	-1.0991	0.04202	T	0.066	0.27364	T	10	0.15996444	0.30043	T	0.006839	0.18093	T	0.023	0.04649	0.256	0.19689	0.134241683229	0.13084	0.14986388847246812	0.14908	0.341253318331	0.36058	0.402876734734	0.25470	T	0.021379	0.16659	T	-0.228976	0.16784	T	-0.566685	0.15754	T	0.354426143853192	0.27191	T	0.721228	0.33447	T	0.049928658	0.08942	0.059943	0.11335	0.049928658	0.08941	0.059943	0.11335	-5.54	0.42241	T	.	.	0.108	0.20391	B	.	.	3.430651	0.47680	22.5	0.99312336025218773	0.59055	0.08870	0.14733	N	AEFDBIJ	0.049158	0.08465	N	-0.0943763979495373	0.37639	2.192695	-0.280253642283378	0.28748	1.605356	0.999960956938475	0.48965	0.651	0.46895	0	0.547309	0.14657	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.9	1.79	0.23992	1.398000	0.34163	3.142000	0.36487	0.676000	0.76740	0.408000	0.26234	0.965000	0.29475	0.220000	0.22462	0.109:0.3683:0.5227:0.0	6.000	0.18746	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	819.83	40	chr3	138062901	.	G	C	819.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.244;DP=233;ExcessHet=0;FS=3.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.921;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1185:.	5	0	1	0
chr3	138130973	138130973	G	A	exonic	A4GNT	.	nonsynonymous SNV	A4GNT:NM_016161:exon2:c.C284T:p.P95L	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0306069301562	0.0007	0.000998403	0.0007	9.612e-05	0.0016	0.0001	0	0.0009	0.0022	0.0002	0.0007374	114	154602	rs145157166	0.0008	0.0008	0.0008	0.0007	0.0015	0.0007	0.0007	0.0012	0.0011	0.0002	0.0015	0	7.557e-05	0.0003	0.0009	0.0009	0.0007	0.0001	0.0008	0.0008	0.0007	0.0009	0.0027	0.0007	0.0006	0.0020	0.0018	0.0002	0	0.0027	0	0.0006	9.448e-05	0	0.0009	0.0019	0.0006	0.295	0.14743	T	0.278	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	0.419576	0.04639	N	1.430170	1	0.08975	N	-0.695	0.01866	N	-1.33	0.79854	T	0.0	0.07008	N	0.035	0.01004	-0.9805	0.34886	T	0.190	0.54153	T	10	0.006414026	0.00145	T	0.030607	0.52882	D	0.130	0.35528	.	.	0.0675242888579	0.06100	0.19961081404082556	0.19878	0.107918556532	0.12170	0.190965339541	0.00242	T	7.71E-4	0.00369	T	-0.571727	0.00216	T	-0.629401	0.10461	T	0.0171266561955416	0.00458	T	0.242976	0.03512	T	0.020317988	0.00586	0.030892791	0.01603	0.020317988	0.00586	0.030892791	0.01603	-3.252	0.13126	T	.	.	0.067	0.02518	B	.	.	-0.787445	0.01131	0.052	0.53214075070318567	0.04896	0.02300	0.06612	N	AEFDBI	0.023963	0.01410	N	-1.95360466262816	0.00266	0.01139734	-1.96901578616459	0.00355	0.01569838	0.18385348759789	0.17908	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.27	-5.33	0.02503	-0.711000	0.05121	-1.028000	0.06557	-2.652000	0.00222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3856:0.1929:0.2603:0.1612	0.873	0.01141	572	0.70300	Glycosyltransferase, DXD sugar-binding motif	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	930.83	34	chr3	138130973	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=229;ExcessHet=0;FS=3.866;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.087;SOR=1.284	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1231	5	0	1	0
chr3	138468685	138468687	GTG	-	exonic	ESYT3	.	nonframeshift deletion	ESYT3:NM_001322831:exon13:c.1339_1341del:p.V448del,ESYT3:NM_001322834:exon13:c.1339_1341del:p.V448del,ESYT3:NM_031913:exon13:c.1339_1341del:p.V448del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.000207	32	154602	rs779544415	0.0001	0.0001	8.167e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.349e-05	8.279e-05	0.0023	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1966.79	33	chr3	138468684	.	CGTG	C	1966.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.648;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.87;ReadPosRankSum=-0.395;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	5	0	1	0
chr3	138476236	138476236	G	C	exonic	ESYT3	.	nonsynonymous SNV	ESYT3:NM_001322831:exon21:c.G2482C:p.V828L,ESYT3:NM_001322834:exon21:c.G2482C:p.V828L,ESYT3:NM_031913:exon21:c.G2482C:p.V828L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.00345213795467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.445	0.13140	T	0.926	0.51467	P	0.988	0.77976	D	0.131470	0.18621	U	0.308471	0.965203	0.38453	D	1.675	0.43121	L	3.08	0.08460	T	-1.84	0.43149	N	0.566	0.58968	-1.2172	0.00061	T	0.064	0.26491	T	10	0.6777278	0.71092	D	0.003452	0.07786	T	0.252	0.56159	0.524	0.62818	0.48756061301	0.48390	0.490555728167822	0.48975	0.625226995545	0.56702	0.539850771427	0.44424	T	0.010929	0.09812	T	-0.00907426	0.50395	T	-0.250811	0.49738	T	0.951724886894226	0.63626	D	0.748825	0.36981	T	0.22139624	0.44715	0.22489928	0.47417	0.22139624	0.44715	0.22489928	0.47416	-5.32	0.40140	T	.	.	0.151	0.33458	B	.	.	3.596748	0.50782	23.0	0.99767970559349184	0.85666	0.95300	0.64186	D	AEFBI	0.746442	0.68881	D	0.665568169294737	0.77378	6.663538	0.662731775383178	0.79563	7.108688	0.99999957846749	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	6.782000	0.74848	6.355000	0.55498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.201	0.81889	355	0.85216	C2 domain|C2 domain|C2 domain|Extended synaptotagmin, C-terminal C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	645.83	46	chr3	138476236	.	G	C	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.113;DP=238;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.413;SOR=1.151	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	5	0	1	0
chr3	138946163	138946163	C	T	exonic	FOXL2	.	nonsynonymous SNV	FOXL2:NM_023067:exon1:c.G560A:p.G187D	Blepharophimosis, epicanthus inversus, and ptosis, type 1, Autosomal dominant;Blepharophimosis, epicanthus inversus, and ptosis, type 2, Autosomal dominant;Premature ovarian failure 3	.	.	.	.	.	.	.	.	.	YES	19910	See_cases|not_provided|Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome|Premature_ovarian_failure_3	.|MedGen:C3661900|MONDO:MONDO:0007201,MedGen:C0220663,OMIM:110100,Orphanet:126|MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.692	0.960872989486	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs121908359	3.527e-05	3.831e-05	2.517e-05	4.564e-05	0.0002	2.718e-05	2.435e-05	2.19e-05	1.874e-05	3.734e-05	3.7e-05	4.272e-05	0	0	0.0002	3.027e-05	0.0002	0	1.317e-05	1.313e-05	0	2.695e-05	1.473e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.473e-05	0	0	0.001	0.78490	D	0.025	0.56192	D	1.0	0.90584	D	0.922	0.65739	D	0.033075	0.24945	U	0.435454	1	0.81001	A	1.445	0.36358	L	-3.5	0.94658	D	-0.89	0.24026	N	0.621	0.63628	0.842	0.94924	D	0.843	0.94749	D	9	0.9485167	0.94181	D	0.960873	0.99744	D	0.692	0.88820	0.799	0.91874	0.898211209325	0.89719	0.7236247439379424	0.72306	.	.	0.96209102869	0.99930	D	0.289713	0.66249	T	0.146451	0.68935	D	0.155358	0.80521	D	0.481686443090439	0.31959	T	0.906609	0.67067	D	0.5224177	0.68398	0.57307255	0.75273	0.47156936	0.65387	0.6638628	0.80296	-13.421	0.91023	D	0.19982762936751616	0.26503	0.819	0.78186	P	.;.	.;.	4.652816	0.74191	26.1	0.99828072024013936	0.91026	0.97937	0.78264	D	AEFDBHCI	0.761153	0.69896	D	0.49088755991824	0.66556	4.965503	0.45650116627469	0.65137	4.785726	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	3.73	3.73	0.41982	4.897000	0.62918	4.236000	0.42680	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.858	0.78780	847	0.35998	.;.	.	.	.	.	.	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	0.002287	0.005882	0.005525	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	381.83	41	chr3	138946163	.	C	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.454;DP=162;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=0.323;SOR=1.112	GT:AD:DP:GQ:PL	0/1:8,15:23:99:392,0,182	5	0	1	0
chr3	140691077	140691077	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon4:c.G1970A:p.R657Q	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0022	0.00339457	0.0036	0.0010	0.0009	0.0177	0.0011	0.0034	0.0066	0.0017	0.0034088	527	154602	rs115301879	0.0030	0.0030	0.0029	0.0030	0.0127	0.0029	0.0029	0.0118	0.0114	0.0009	0.0016	0.0073	0.0127	0.0009	0.0057	0.0028	0.0039	0.0018	0.0032	0.0032	0.0029	0.0035	0.0120	0.0030	0.0029	0.0096	0.0087	0.0008	0	0.0043	0.0055	0.0120	0.0008	0.0034	0.0041	0.0057	0.0012	0.372	0.11478	T	0.558	0.09175	T	0.001	0.07471	B	0.005	0.11217	B	0.692554	0.10163	N	0.843469	0.959129	0.26198	N	-0.345	0.03330	N	0.39	0.57419	T	0.23	0.04613	N	0.248	0.28028	-1.0282	0.21038	T	0.046	0.19919	T	10	0.0063589513	0.00144	T	.	.	.	0.032	0.07718	.	.	0.17258766438	0.16869	0.19188953272759326	0.19106	0.264680432319	0.29017	0.237702786922	0.02587	T	8.82E-4	0.00449	T	-0.585505	0.00178	T	-0.598878	0.12906	T	0.00911997117546362	0.00115	T	0.615039	0.23503	T	0.03390609	0.03701	0.039110765	0.03930	0.03390609	0.03701	0.039110765	0.03929	-4.476	0.30573	T	.	.	0.067	0.02399	B	.	.	1.793081	0.22793	15.76	0.94994453930512179	0.25948	0.26665	0.23058	N	AEFI	0.051698	0.09157	N	-0.88571452205548	0.11182	0.5382381	-0.708105279531111	0.16759	0.8880587	1.19849999141359E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	0.577	0.16569	0.263000	0.18247	0.314000	0.17114	-0.704000	0.03997	0.585000	0.27626	0.005000	0.19230	0.983000	0.59808	0.4283:0.0:0.5717:0.0	8.412	0.31812	554	0.71839	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.009511	0.008772	0.000000	0.017241	0.006098	0.000000	0.08333	1217.83	34	chr3	140691077	.	G	A	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=266;ExcessHet=0;FS=2.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.97;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	5	0	1	0
chr3	142493223	142493223	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon34:c.T5795C:p.M1932T,ATR:NM_001184:exon35:c.T5987C:p.M1996T	Seckel syndrome 1, Autosomal recessive	2	1490	29	1	0	31	0.0102956	.	.	.	293044	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|not_provided|Seckel_syndrome_1	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0005	0.00239617	0.0023	0	0.0005	0	0.0002	0.0013	0.0011	0.0112	0.0020828	322	154602	rs150339560	0.0014	0.0014	0.0011	0.0017	0.0105	0.0013	0.0013	0.0100	0.0097	0.0002	0.0006	7.655e-05	2.521e-05	0.0003	0.0069	0.0009	0.0014	0.0105	0.0010	0.0010	0.0011	0.0010	0.0081	0.0009	0.0008	0.0061	0.0054	0.0001	0	0.0005	0	0	0.0003	0.0068	0.0014	0.0009	0.0081	0.522	0.07211	T	0.673	0.06245	T	0.004	0.12183	B	0.021	0.19346	B	0.026712	0.25874	N	0.453074	0.506061	0.31781	D	0.345	0.11182	N	-0.17	0.65563	T	-0.34	0.12661	N	0.156	0.16168	-1.0067	0.27943	T	0.093	0.35390	T	10	0.0055253804	0.00122	T	.	.	.	0.046	0.12618	.	.	0.573967493499	0.57064	0.16067797887374585	0.15988	0.72376401681	0.62348	0.415606826544	0.27231	T	0.043643	0.26566	T	-0.482922	0.00711	T	-0.457065	0.26919	T	0.0114550716298242	0.00172	T	0.772623	0.40374	T	0.036460824	0.04490	0.045311764	0.06070	0.036460824	0.04490	0.045311764	0.06069	-2.316	0.04644	T	.	.	0.066	0.02228	B	.	.	1.776277	0.22588	15.68	0.77247482962935432	0.11797	0.94128	0.60197	D	AEFGBI	0.271006	0.38695	N	-0.549658756175477	0.20494	1.080785	-0.371449425263281	0.25852	1.424278	0.352174036091183	0.19694	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.5	1.09	0.19517	1.857000	0.39038	3.644000	0.39356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5014:0.0:0.0847:0.4138	5.932	0.18380	379	0.83778	PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.008772	0.100000	0.000000	0.009146	0.011364	0.08333	1129.83	33	chr3	142493223	.	A	G	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=274;ExcessHet=0;FS=2.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.1;SOR=0.491	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	5	0	1	0
chr3	146110405	146110405	T	C	exonic	PLOD2	.	nonsynonymous SNV	PLOD2:NM_000935:exon4:c.A382G:p.K128E,PLOD2:NM_182943:exon4:c.A382G:p.K128E	Bruck syndrome 2, Autosomal recessive	1	1510	10	1	0	12	0.00395778	.	.	.	289796	Bruck_syndrome_2|not_provided|Osteogenesis_imperfecta	MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0724579956003	0.0008	0.000199681	0.0007	0	0.0002	0	0	0.0010	0.0011	0.0006	0.0006533	101	154602	rs200569129	0.0008	0.0008	0.0008	0.0009	0.0030	0.0008	0.0008	0.0019	0.0015	0.0001	0.0002	7.656e-05	0	9.38e-05	0.0030	0.0010	0.0008	0.0009	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0009	0.0009	4.81e-05	0	0.0002	0	0	0	0	0.0011	0.0014	0.0012	0.069	0.45393	T	0.03	0.54159	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	0.96	0.42888	T	-3.73	0.73893	D	0.899	0.95491	-0.3899	0.72345	T	0.296	0.66745	T	10	0.11814535	0.22330	T	0.072458	0.71538	D	0.439	0.74306	.	.	0.742228756361	0.73991	0.8876072477835727	0.88729	0.47591324617	0.46746	0.500730097294	0.38930	T	0.321	0.69205	T	-0.0527041	0.44034	T	0.105966	0.77304	D	0.174262121319771	0.18865	T	0.967253	0.88939	D	0.6632286	0.76071	0.5563473	0.74339	0.6632286	0.76072	0.5563473	0.74340	-10.906	0.79140	D	0.6609716982728082	0.73445	0.602	0.70994	P	.;.;.;.	.;.;.;.	4.749043	0.76661	26.6	0.99885943331872762	0.96126	0.92648	0.56208	D	AEDBHCIJ	0.861428	0.77949	D	0.749329277470971	0.82862	7.868594	0.69277056459754	0.81830	7.619207	0.999999999981119	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	5.822000	0.68949	7.785000	0.68758	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.000	0.71123	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1410.83	33	chr3	146110405	.	T	C	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-0.881;SOR=0.781	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1355	5	0	1	0
chr3	146600424	146600424	G	A	exonic	PLSCR5	.	nonsynonymous SNV	PLSCR5:NM_001085420:exon2:c.C53T:p.P18L,PLSCR5:NM_001321245:exon2:c.C53T:p.P18L	.	435	1078	9	0	0	9	0.00415704	.	.	.	3365931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0270101904558	8.4e-05	.	0.0002	0	0.0002	0	0	0.0002	0	0.0004	0.0001488	23	154602	rs200100738	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0025	3.017e-05	0.0002	3.864e-05	0	3.772e-05	0.0042	0.0001	0.0003	0.0002	0.0001	0.0001	0.0002	6.716e-05	0.0002	7.088e-05	5.745e-05	0.0001	9.899e-05	0	0	0	0	0	0	0.0034	0.0002	0.0009	0	0.025	0.51248	D	0.031	0.54541	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.97617	0.39253	D	1.895	0.50365	L	1.86	0.26301	T	-3.44	0.68764	D	0.444	0.48227	-1.0153	0.25240	T	0.071	0.28904	T	9	0.24906585	0.42212	T	0.02701	0.49866	D	0.185	0.45933	.	.	0.44770609447	0.44391	0.3927728729790353	0.39192	0.00442130254442	0.00392	0.409295082092	0.26359	T	0.150335	0.48976	T	-0.342293	0.05231	T	-0.43052	0.29877	T	0.144969686865807	0.16696	T	0.725627	0.33984	T	0.105755866	0.25006	0.16874439	0.38858	0.105755866	0.25006	0.16874439	0.38857	-5.258	0.41596	T	.	.	0.157	0.34819	B	.;.;.	.;.;.	2.983656	0.39806	21.0	0.99077419570028569	0.51882	0.89044	0.49278	D	AEFDI	0.114359	0.22527	N	-0.179158032022192	0.34004	1.935688	-0.195919856809172	0.31687	1.795564	4.63180927223248E-4	0.07066	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.93	4.17	0.48303	2.335000	0.43588	4.526000	0.43706	-0.105000	0.15698	0.994000	0.38300	1.000000	0.68203	0.021000	0.11733	0.1522:0.0:0.8478:0.0	10.481	0.43882	881	0.29269	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004545	0.005051	0.002725	0.008772	0.000000	0.000000	0.006135	0.000000	0.08333	563.83	36	chr3	146600424	.	G	A	563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=217;ExcessHet=0;FS=6.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.647;SOR=1.222	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	5	0	1	0
chr3	147396034	147396034	G	C	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.C656G:p.A219G,ZIC4:NM_001168379:exon3:c.C620G:p.A207G,ZIC4:NM_032153:exon3:c.C506G:p.A169G	.	0	1503	17	2	0	21	0.00693756	.	.	.	2091028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.246	.	0.0058	0.00319489	0.0063	0.0015	0.0017	0	0.0171	0.0086	0.0099	0.0022	0.0059896	926	154602	rs62001026	0.0067	0.0067	0.0068	0.0065	0.0123	0.0066	0.0065	0.0100	0.0092	0.0012	0.0026	0.0003	2.519e-05	0.0145	0.0123	0.0073	0.0060	0.0027	0.0061	0.0061	0.0055	0.0068	0.0072	0.0058	0.0057	0.0066	0.0064	0.0016	0.0592	0.0042	0	0	0.0223	0.0102	0.0072	0.0080	0.0010	0.037	0.78490	D	0.055	0.46862	T	0.382	0.34403	B	0.146	0.33945	B	0.420178	0.12881	N	0.673556	.	.	.	0.325	0.10370	N	-2.83	0.91249	D	-1.42	0.34992	N	0.312	0.35832	-0.1580	0.78720	T	0.486	0.80395	T	10	0.0090051	0.00204	T	.	.	.	0.246	0.55340	.	.	0.81262118663	0.81086	0.3266152122062704	0.32574	0.530816449504	0.50609	0.530859589577	0.43156	T	0.166395	0.51261	T	-0.294136	0.09225	T	-0.190015	0.55588	T	0.0148927318828694	0.00316	T	0.839416	0.51368	T	0.14362493	0.33002	0.19757934	0.43546	0.14362493	0.33001	0.19757934	0.43545	-7.761	0.61234	D	.	.	0.167	0.46733	B	.;.;.;.;.;.	.;.;.;.;.;.	2.681497	0.34985	19.78	0.99533621808530159	0.70025	0.95484	0.64904	D	AEFDBCI	0.760412	0.69844	D	-0.209726301672599	0.32736	1.849439	-0.0889836543389978	0.35844	2.078622	0.999994561557324	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.2	2.15	0.26590	2.516000	0.45181	2.657000	0.33854	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.3905:0.6095:0.0	15.619	0.76542	920	0.19381	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013595	0.010101	0.013587	0.017544	0.000000	0.017241	0.012195	0.015152	0.08333	2864.83	39	chr3	147396034	.	G	C	2864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.853;DP=449;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.419;SOR=0.671	GT:AD:DP:GQ:PL	0/1:108,111:219:99:2875,0,2893	5	0	1	0
chr3	147396245	147396245	C	G	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G445C:p.G149R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_032153:exon3:c.G295C:p.G99R	.	134	1355	33	0	0	33	0.0120306	.	.	.	2113997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0059	0.00519169	0.0071	0.0017	0.0040	0.0001	0.0157	0.0087	0.0084	0.0065	0.0067787	1048	154602	rs34676558	0.0081	0.0081	0.0080	0.0082	0.0113	0.0080	0.0079	0.0091	0.0083	0.0014	0.0042	0.0109	0	0.0149	0.0113	0.0085	0.0077	0.0068	0.0067	0.0067	0.0066	0.0069	0.0093	0.0064	0.0063	0.0087	0.0085	0.0020	0	0.0048	0.0112	0	0.0142	0	0.0093	0.0061	0.0070	0.007	0.78490	D	0.184	0.37872	T	0.994	0.66517	D	0.923	0.65830	D	0.000258	0.46924	D	0.000000	.	.	.	2.28	0.64929	M	0.97	0.42502	T	-3.96	0.74661	D	0.707	0.76203	-0.8022	0.55015	T	0.147	0.47129	T	10	0.0103960335	0.00232	T	.	.	.	0.269	0.58381	0.628	0.76366	0.799349794875	0.79747	0.6008591114934073	0.60016	1.56576822731	0.88110	0.708737492561	0.68410	T	0.577982	0.86135	D	-0.266311	0.12170	T	-0.145919	0.59604	T	0.0226727302625135	0.00985	T	0.967253	0.88140	D	0.3260748	0.55147	0.40053952	0.64588	0.3260748	0.55147	0.40053952	0.64588	-12.54	0.87381	D	.	.	0.627	0.70621	P	.;.;.;.;.;.	.;.;.;.;.;.	3.880911	0.56402	23.7	0.9988786241018941	0.96281	0.96824	0.71137	D	AEFDBHCI	0.809104	0.73270	D	0.604603678742957	0.73464	5.970528	0.573160142656645	0.73021	5.902948	0.999999943667802	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.98	4.98	0.65679	3.034000	0.49441	2.192000	0.31216	0.599000	0.40250	1.000000	0.71638	0.800000	0.26941	0.990000	0.65344	0.1613:0.7572:0.0:0.0816	7.852	0.28624	921	0.19240	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.025253	0.009511	0.023392	0.000000	0.008621	0.021341	0.003788	0.1667	2674.06	39	chr3	147396245	.	C	G	2674.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.9;DP=350;ExcessHet=0.4139;FS=7.449;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.889;SOR=1.209	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	4	0	2	0
chr3	147396395	147396395	C	T	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G295A:p.E99K,ZIC4:NM_001168379:exon3:c.G259A:p.E87K,ZIC4:NM_032153:exon3:c.G145A:p.E49K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00829610054881	.	.	2.01e-05	0	0	0.0001	0	1.742e-05	0	0	1.29e-05	2	154602	rs757977562	1.454e-06	1.368e-06	0	2.96e-06	9.314e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.314e-07	1.77e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.228	0.28032	T	0.004	0.12183	B	0.008	0.13708	B	0.261720	0.15302	N	0.539313	.	.	.	0.345	0.11182	N	2.93	0.11189	T	-0.75	0.34795	N	0.419	0.45898	-1.0562	0.12724	T	0.024	0.10058	T	10	0.13244128	0.25207	T	0.008296	0.21979	T	0.081	0.23632	0.269	0.21735	0.474248596982	0.47055	0.3962666670485834	0.39541	0.580106300526	0.53867	0.375663220882	0.21640	T	0.097443	0.40027	T	-0.173203	0.24752	T	-0.486571	0.23751	T	0.705437660217285	0.40979	D	0.951205	0.81406	D	0.19052151	0.40640	0.20576131	0.44759	0.19052151	0.40640	0.20576131	0.44758	-4.558	0.31640	T	.	.	0.303	0.53433	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.737652	0.53497	23.4	0.9982591587725127	0.90852	0.95762	0.66046	D	AEFDBCI	0.555940	0.56618	D	-0.25024187244253	0.31094	1.740117	-0.0602914820995086	0.37049	2.16403	0.999999980672365	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.01	4.14	0.47821	7.729000	0.83815	8.195000	0.76797	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1483:0.8517:0.0	15.168	0.72528	922	0.19044	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	370.83	39	chr3	147396395	.	C	T	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.914;DP=192;ExcessHet=0;FS=3.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.51;SOR=0.293	GT:AD:DP:GQ:PL	0/1:17,14:31:99:381,0,502	5	0	1	0
chr3	148879827	148879827	G	A	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon6:c.G514A:p.D172N	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.00921743797219	0.0031	0.000399361	0.0022	0.0007	0.0009	0	0.0032	0.0033	0.0011	0.0006	0.0021022	325	154602	rs149768841	0.0040	0.0040	0.0039	0.0040	0.0047	0.0039	0.0039	0.0046	0.0045	0.0007	0.0009	0.0012	0	0.0034	0.0019	0.0047	0.0047	0.0007	0.0031	0.0031	0.0032	0.0029	0.0055	0.0028	0.0027	0.0051	0.0049	0.0007	0	0.0008	0.0020	0	0.0027	0.0034	0.0055	0.0024	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.515	0.73286	M	2.71	0.12055	T	-4.86	0.81187	D	0.339	0.38027	-0.9863	0.33518	T	0.114	0.40605	T	10	0.052314013	0.05247	T	0.009217	0.24225	T	0.357	0.67782	.	.	0.494165489436	0.49052	0.7562566560573699	0.75573	0.0323103836565	0.03370	0.593737840652	0.52021	T	0.22284	0.58681	T	-0.426648	0.01553	T	-0.382598	0.35419	T	0.0176568705484154	0.00497	T	0.907809	0.67374	D	0.8091958	0.84500	0.70435435	0.82574	0.8091958	0.84501	0.70435435	0.82575	-8.717	0.65857	D	.	.	0.527	0.65780	A	.	.	4.391107	0.67767	25.1	0.99930392899379206	0.99334	0.95213	0.63857	D	AEFBI	0.809231	0.73279	D	0.777423027204276	0.84677	8.354648	0.716470035813073	0.83628	8.07224	0.999999917063699	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	4.77	4.77	0.60425	6.754000	0.74705	7.150000	0.57675	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	17.070	0.86447	532	0.73501	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1386.83	38	chr3	148879827	.	G	A	1386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=269;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-0.621;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	5	0	1	0
chr3	151193533	151193533	C	T	exonic	MED12L	.	nonsynonymous SNV	MED12L:NM_053002:exon14:c.C2012T:p.T671I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0128634355791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.51248	D	0.056	0.62352	T	0.018	0.33761	B	0.043	0.36047	B	0.000103	0.50451	D	0.179331	0.918758	0.36615	D	-0.345	0.03330	N	1.54	0.30133	T	-1.57	0.37955	N	0.067	0.04307	-1.0095	0.27074	T	0.051	0.21611	T	10	0.07755959	0.12256	T	0.012863	0.31797	T	0.078	0.22779	0.28	0.23483	0.043077524339	0.03247	0.33616684302312433	0.33529	0.435720000412	0.43672	0.318627208471	0.13213	T	0.017762	0.14435	T	-0.198575	0.21012	T	-0.523015	0.19990	T	0.920822501182556	0.58018	D	0.824018	0.48674	T	0.07248018	0.16127	0.09933397	0.23714	0.07248018	0.16126	0.09933397	0.23714	-4.278	0.27867	T	.	.	0.1	0.17146	B	.;.;.;.	.;.;.;.	3.350073	0.46200	22.3	0.99475456797376582	0.66579	0.96801	0.71012	D	AEFBI	0.506170	0.53700	D	-0.0527813488549805	0.39477	2.328721	0.159628449751002	0.47654	2.992424	0.999999995339704	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	4.771000	0.62011	4.843000	0.45303	0.580000	0.29708	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.0:1.0:0.0:0.0	19.064	0.93085	710	0.56735	.;.;Mediator complex, subunit Med12, LCEWAV-domain;Mediator complex, subunit Med12, LCEWAV-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2010.83	36	chr3	151193533	.	C	T	2010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.571;DP=330;ExcessHet=0;FS=1.273;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.4;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	5	0	1	0
chr3	151328718	151328718	G	T	exonic	P2RY13	.	nonsynonymous SNV	P2RY13:NM_176894:exon2:c.C338A:p.A113D	.	432	1082	6	0	2	8	0.00276498	.	.	.	2825016	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.427	0.0234715852192	0.0045	0.000798722	0.0042	0.0010	0.0022	0	0.0082	0.0062	0.0033	0.0004	0.0041009	634	154602	rs144128158	0.0045	0.0045	0.0046	0.0045	0.0052	0.0044	0.0044	0.0051	0.0051	0.0009	0.0021	0.0021	0	0.0057	0.0042	0.0052	0.0040	0.0005	0.0041	0.0041	0.0041	0.0041	0.0061	0.0038	0.0037	0.0056	0.0054	0.0010	0.0429	0.0027	0.0017	0.0002	0.0062	0.0068	0.0061	0.0038	0.0008	0.101	0.30375	T	0.082	0.41573	T	0.754	0.43358	P	0.781	0.57337	P	0.000296	0.46274	D	0.219430	0.994814	0.42427	D	2.535	0.73915	M	-0.56	0.71187	T	-2.79	0.59059	D	0.636	0.64903	-0.3656	0.73095	T	0.363	0.72384	T	10	0.0137678385	0.00291	T	0.023472	0.46432	T	0.427	0.73445	.	.	0.853523466167	0.85211	0.7102152404423995	0.70963	0.154934877973	0.17502	0.492738097906	0.37818	T	0.378754	0.74165	T	-0.252646	0.13776	T	-0.125297	0.61365	T	0.0865143881402395	0.10798	T	0.762524	0.38803	T	0.43636695	0.63168	0.35455117	0.60998	0.43636695	0.63168	0.35455117	0.60997	-4.595	0.32109	T	.	.	0.508	0.64929	A	.	.	2.547552	0.32967	19.20	0.98821321651468808	0.46786	0.69119	0.34063	D	AEFDGBCIJ	0.402082	0.47631	N	-0.241996136256497	0.31423	1.761883	-0.351923680851002	0.26449	1.461012	0.999999576930139	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	0.473	0.15974	1.312000	0.33179	1.094000	0.24007	-0.132000	0.13132	0.463000	0.26667	0.039000	0.21534	0.242000	0.23054	0.0:0.5657:0.4343:0.0	19.682	0.95963	842	0.36989	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	1	0	0.002518	0.010101	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	978.83	37	chr3	151328718	.	G	T	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.143;DP=286;ExcessHet=0;FS=4.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.239;SOR=0.882	GT:AD:DP:GQ:PL	0/1:47,39:86:99:989,0,1245	5	0	1	0
chr3	151444930	151444930	C	G	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G5051C:p.R1684T,IGSF10:NM_001385060:exon6:c.G5051C:p.R1684T,IGSF10:NM_178822:exon6:c.G5051C:p.R1684T,IGSF10:NM_001385062:exon7:c.G5051C:p.R1684T,IGSF10:NM_001385063:exon7:c.G5051C:p.R1684T	.	432	1088	2	0	0	2	0.000918274	.	.	.	1926653	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.632	0.0700473631754	7.7e-05	0.000199681	0.0002	0	8.703e-05	0.0001	0	0.0002	0.0012	0.0008	0.0001876	29	154602	rs149854696	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0005	0.0003	6.112e-05	2.386e-05	0	7.574e-05	0	0.0011	9.836e-05	0.0003	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.996e-05	2.405e-05	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.007	0.59928	D	0.008	0.67890	D	0.988	0.62325	D	0.932	0.66722	D	0.007439	0.31401	N	0.131561	0.992473	0.41655	D	1.145	0.29067	L	-1.34	0.79944	T	-4.2	0.75695	D	0.688	0.69387	0.006	0.82381	D	0.510	0.81594	D	10	0.4827483	0.60528	T	0.070047	0.70898	D	0.632	0.85872	.	.	0.906709791018	0.90577	0.7328133840573781	0.73226	0.195874411988	0.21946	0.360935628414	0.19522	T	0.147432	0.48552	T	-0.127947	0.31827	T	-0.0280496	0.68498	D	0.284865409135818	0.24375	T	0.777022	0.40965	T	0.22781971	0.45489	0.20458965	0.44590	0.22781971	0.45489	0.20458965	0.44589	-6.565	0.50785	T	.	.	0.206	0.43200	B	.	.	3.345280	0.46112	22.2	0.98367728546121269	0.40719	0.96101	0.67537	D	AEFBI	0.621162	0.60595	D	0.440931827933361	0.63691	4.607726	0.437148944297574	0.63895	4.632735	0.999997732116518	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.86	4.99	0.65942	2.092000	0.41326	1.092000	0.23989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.7187:0.0:0.2813	7.173	0.24905	813	0.42397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	945.04	33	chr3	151444930	.	C	G	945.04	.	AC=2;AF=0.167;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.33;SOR=2.066	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,831	5	1	0	0
chr3	152456305	152456305	G	A	exonic	MBNL1	.	nonsynonymous SNV	MBNL1:NM_001376844:exon6:c.G724A:p.A242T,MBNL1:NM_001376846:exon6:c.G724A:p.A242T,MBNL1:NM_001376847:exon6:c.G688A:p.A230T,MBNL1:NM_001376848:exon6:c.G619A:p.A207T,MBNL1:NM_207294:exon6:c.G796A:p.A266T,MBNL1:NM_001376830:exon7:c.G1000A:p.A334T,MBNL1:NM_001376831:exon7:c.G1000A:p.A334T,MBNL1:NM_001376838:exon7:c.G850A:p.A284T,MBNL1:NM_001376841:exon7:c.G760A:p.A254T,MBNL1:NM_001376842:exon7:c.G760A:p.A254T,MBNL1:NM_001376845:exon7:c.G724A:p.A242T,MBNL1:NM_207292:exon7:c.G1000A:p.A334T,MBNL1:NM_207295:exon7:c.G832A:p.A278T,MBNL1:NM_001376824:exon8:c.G1054A:p.A352T,MBNL1:NM_001376825:exon8:c.G1054A:p.A352T,MBNL1:NM_001376827:exon8:c.G1036A:p.A346T,MBNL1:NM_001376828:exon8:c.G1036A:p.A346T,MBNL1:NM_001376829:exon8:c.G1036A:p.A346T,MBNL1:NM_001376837:exon8:c.G868A:p.A290T,MBNL1:NM_001376840:exon8:c.G760A:p.A254T,MBNL1:NM_001376843:exon8:c.G760A:p.A254T,MBNL1:NM_021038:exon8:c.G1036A:p.A346T,MBNL1:NM_207293:exon8:c.G1054A:p.A352T,MBNL1:NM_001376820:exon9:c.G1090A:p.A364T,MBNL1:NM_001376821:exon9:c.G1090A:p.A364T,MBNL1:NM_001376822:exon9:c.G1090A:p.A364T,MBNL1:NM_001376823:exon9:c.G1090A:p.A364T,MBNL1:NM_001376826:exon9:c.G1036A:p.A346T,MBNL1:NM_001376839:exon9:c.G814A:p.A272T,MBNL1:NM_001314057:exon10:c.G919A:p.A307T,MBNL1:NM_001376818:exon10:c.G1183A:p.A395T,MBNL1:NM_001376819:exon11:c.G1183A:p.A395T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0134318821411	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	3.84e-05	1	26028	rs773149172	6.158e-06	6.156e-06	4.084e-06	8.252e-06	4.472e-05	2.9e-06	2.1e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	4.497e-06	1.656e-05	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	0.044	0.42783	D	0.043	0.50226	D	0.999	0.90584	D	0.961	0.80445	D	0.000002	0.62929	D	0.101382	0.999999	0.81001	D	.	.	.	.	.	.	-1.44	0.45769	N	0.787	0.80964	-0.1531	0.78839	T	0.453	0.78650	T	9	0.6441683	0.69229	D	0.013432	0.32827	T	0.337	0.65913	0.277	0.23004	0.525810096056	0.52226	0.6298662670055406	0.62920	1.98726426833	0.93697	0.689875245094	0.65688	T	0.421346	0.77277	T	0.0802638	0.62072	D	-0.122483	0.61599	T	0.782614886760712	0.45214	D	0.923008	0.71997	D	0.20526409	0.42663	0.19999945	0.43909	0.20526409	0.42663	0.19999945	0.43908	-3.371	0.15340	T	.	.	0.123	0.32922	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.567459	0.92191	32	0.99919773425764513	0.98654	0.99636	0.98212	D	AEFGBI	0.873561	0.79599	D	0.817863750067544	0.87209	9.139837	0.818965808157522	0.91078	10.70865	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	9.463000	0.96818	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.433	0.94770	817	0.41665	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2661.83	34	chr3	152456305	.	G	A	2661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=408;ExcessHet=0;FS=0.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.906;SOR=0.739	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1432	5	0	1	0
chr3	154324278	154324278	G	C	exonic	DHX36	.	nonsynonymous SNV	DHX36:NM_001114397:exon1:c.C139G:p.R47G,DHX36:NM_020865:exon1:c.C139G:p.R47G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.27985049271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.24e-05	0	0	.	.	0	2.24e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08813	T	0.435	0.13518	T	0.987	0.64738	D	0.931	0.72001	D	0.026286	0.25944	N	0.390745	0.989708	0.41006	D	0.3	0.10203	N	-0.98	0.75789	T	0.59	0.02853	N	0.359	0.42247	-0.5656	0.66189	T	0.335	0.70215	T	10	0.3041029	0.47937	T	0.27985	0.90191	D	0.297	0.61730	0.416	0.45544	0.862312876497	0.86098	0.25086495178912316	0.25000	0.524322996991	0.50117	0.841920077801	0.88388	D	0.014151	0.12104	T	-0.000585855	0.51575	T	-0.238618	0.50933	T	0.594643235206604	0.36189	D	0.478452	0.14421	T	0.09364311	0.21999	0.09314471	0.21986	0.09364311	0.21999	0.09314471	0.21985	-0.813	0.00823	T	.	.	0.065	0.25034	B	.;.;.	.;.;.	2.790257	0.36673	20.3	0.94774915761738487	0.25499	0.24550	0.22428	N	AEFDGBHCI	0.242100	0.36361	N	0.14289450119773	0.48476	3.059427	0.136942533009273	0.46454	2.891119	0.999999999999435	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.33	3.33	0.37245	0.831000	0.27129	5.126000	0.47622	0.676000	0.76740	0.751000	0.29144	1.000000	0.68203	0.804000	0.37906	0.0:0.0:1.0:0.0	10.434	0.43610	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1667.83	127	chr3	154324278	.	G	C	1667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=305;ExcessHet=0;FS=3.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.235;SOR=1.081	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1372	5	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	406.71	101	chr3	155853645	.	G	A	406.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.691;DP=499;ExcessHet=0.4139;FS=320.33;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=2.57;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1382:.	2	0	2	2
chr3	158203173	158203173	G	A	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271838:exon4:c.G422A:p.G141D,RSRC1:NM_016625:exon4:c.G422A:p.G141D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00477597659891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.044	0.91255	D	0.065	0.44702	T	0.354	0.33710	B	0.289	0.40655	B	0.002075	0.37317	N	0.292333	1	0.81001	D	1.095	0.27400	L	.	.	.	-1.75	0.66780	N	0.217	0.29429	-0.9297	0.44183	T	0.118	0.41538	T	9	0.14465183	0.27448	T	0.004776	0.11910	T	0.049	0.13647	0.182	0.09004	0.649436034143	0.64652	0.24992038276425038	0.24906	0.0968026728174	0.10928	0.570001363754	0.48678	T	0.080085	0.41611	T	-0.0299844	0.47420	T	-0.280847	0.46717	T	0.453011495484477	0.30907	T	0.756624	0.52334	T	0.074311055	0.16667	0.12139064	0.29288	0.074311055	0.16666	0.12139064	0.29288	-1.544	0.01856	T	.	.	0.243	0.57180	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.116159	0.26937	17.29	0.99443300288607861	0.64870	0.90329	0.51419	D	AEFGI	0.334258	0.43308	N	-0.120494468398573	0.36501	2.110699	-0.0571478882500645	0.37181	2.173635	5.98132739656101E-4	0.07414	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.04	1.98	0.25351	1.138000	0.31103	1.153000	0.24496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1614:0.583:0.2557	9.32	0.37119	578	0.69858	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	47.83	33	chr3	158203173	.	G	A	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.079;DP=232;ExcessHet=0;FS=28.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=0.953;SOR=4.975	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	5	0	1	0
chr3	160438796	160438796	G	A	exonic	TRIM59	.	nonsynonymous SNV	TRIM59:NM_173084:exon3:c.C388T:p.P130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0118484392899	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs754222271	1.437e-05	1.436e-05	9.53e-06	1.925e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.23095	T	0.332	0.20228	T	0.926	0.51467	P	0.683	0.53559	P	0.000020	0.62929	D	0.118844	0.522097	0.31561	N	1.275	0.32135	L	1.07	0.39586	T	-2.69	0.63782	D	0.426	0.46555	-0.8823	0.49577	T	0.113	0.40422	T	9	0.21301639	0.37780	T	0.011848	0.29880	T	0.100	0.28662	0.321	0.30064	0.529661991002	0.52613	0.31617106687481494	0.31530	0.351142958433	0.36959	0.568240761757	0.48428	T	0.042252	0.26123	T	-0.35764	0.04264	T	-0.455309	0.27111	T	0.583226084709167	0.35743	D	0.884611	0.60805	D	0.1346589	0.31279	0.1352428	0.32385	0.1346589	0.31278	0.1352428	0.32384	-1.57	0.01913	T	.	.	0.242	0.49606	B	.;.;.;.;.	.;.;.;.;.	4.483351	0.69966	25.5	0.9987631158204604	0.95328	0.85924	0.45115	D	AEFBCI	0.517295	0.54347	D	0.426291186631014	0.62871	4.510509	0.48070970714724	0.66714	4.988023	0.999999951962155	0.74766	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.77	4.89	0.63387	2.499000	0.45032	11.812000	0.96965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.068:0.1226:0.6828:0.1267	7.061	0.24306	754	0.51307	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	965.83	35	chr3	160438796	.	G	A	965.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.514;DP=256;ExcessHet=0;FS=7.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.74;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1244	5	0	1	0
chr3	160439014	160439014	G	A	exonic	TRIM59	.	nonsynonymous SNV	TRIM59:NM_173084:exon3:c.C170T:p.P57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.309285384637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.102983	1	0.81001	D	2.99	0.85699	M	-1.62	0.94508	D	-9.61	0.98796	D	0.971	0.98167	1.040	0.97913	D	0.938	0.97971	D	9	0.9761061	0.97385	D	0.309285	0.91134	D	0.743	0.91112	0.847	0.95025	0.99618256283	0.99613	0.7232791598280857	0.72271	0.38264370552	0.39592	0.739530205727	0.72903	T	0.226	0.59064	T	0.531584	0.95194	D	0.525807	0.95122	D	0.999773323535919	0.98932	D	0.922308	0.85970	D	0.7789849	0.82592	0.7467212	0.85029	0.7789849	0.82594	0.7467212	0.85030	-11.03	0.79823	D	.	.	0.943	0.87972	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.342558	0.89640	31	0.99870922761500558	0.94815	0.98623	0.84820	D	AEFBCI	0.900533	0.84617	D	1.05498654836425	0.97206	15.75042	1.02027581379883	0.98983	20.14156	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.879	0.99870	754	0.51307	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	818.83	35	chr3	160439014	.	G	A	818.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.836;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.351;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1244	5	0	1	0
chr3	161497039	161497039	G	A	exonic	OTOL1	.	nonsynonymous SNV	OTOL1:NM_001080440:exon1:c.G232A:p.V78I	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0344195182739	0.0007	0.000199681	0.0008	0.0004	8.673e-05	0	0.0006	0.0009	0	0.0015	0.0006986	108	154602	rs199791179	0.0008	0.0008	0.0008	0.0008	0.0036	0.0008	0.0007	0.0024	0.0020	0.0001	8.946e-05	0.0008	0	0.0004	0.0036	0.0008	0.0008	0.0014	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0011	0.0009	9.626e-05	0	0.0001	0.0014	0	0.0007	0	0.0009	0.0005	0.0021	0.176	0.22312	T	0.395	0.15255	T	0.094	0.25382	B	0.016	0.17743	B	0.034833	0.24720	N	0.431541	1	0.08975	N	0	0.06538	N	-2.64	0.90147	D	-0.31	0.12099	N	0.212	0.23632	-0.6446	0.62948	T	0.408	0.75762	T	10	0.00881061	0.00200	T	0.03442	0.55661	D	0.086	0.25016	.	.	0.104622674875	0.10061	0.12364852100604679	0.12290	0.0198927831147	0.01948	0.264644563198	0.05457	T	9.8E-4	0.00525	T	-0.463556	0.00934	T	-0.468722	0.25653	T	0.00843817680004128	0.00102	T	0.465653	0.13651	T	0.032953892	0.03421	0.05621832	0.10006	0.032953892	0.03420	0.05621832	0.10006	-3.584	0.17625	T	.	.	0.071	0.03773	B	.	.	0.482996	0.08524	5.287	0.93888427696494847	0.23909	0.06455	0.12462	N	AEFI	0.045432	0.07429	N	-0.845885784371692	0.12151	0.5905631	-0.806031618336411	0.14350	0.749309	3.93230951477393E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	2.79	0.31792	2.460000	0.44689	1.066000	0.23763	0.676000	0.76740	0.181000	0.24076	0.000000	0.08366	0.205000	0.22041	0.1549:0.0:0.7014:0.1437	6.717	0.22498	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.005435	0.011696	0.000000	0.000000	0.000000	0.003788	0.08333	1530.83	34	chr3	161497039	.	G	A	1530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.291;DP=292;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.203;SOR=0.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1181	5	0	1	0
chr3	168024558	168024558	C	T	exonic	GOLIM4	.	nonsynonymous SNV	GOLIM4:NM_001308155:exon13:c.G1744A:p.D582N,GOLIM4:NM_014498:exon14:c.G1828A:p.D610N	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0156509893341	0.0002	.	9.069e-05	0	0	0	0	0.0001	0	6.06e-05	7.12e-05	11	154602	rs145555095	3.558e-05	3.557e-05	2.86e-05	4.264e-05	0.0002	2.763e-05	2.502e-05	3e-05	2.672e-05	0	2.236e-05	0	0	0	0.0002	3.959e-05	6.625e-05	2.319e-05	3.288e-05	3.284e-05	1.286e-05	5.384e-05	6.556e-05	1.262e-05	7.98e-06	1.171e-05	6.25e-06	2.414e-05	0	6.556e-05	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.015	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.25	0.63811	M	.	.	.	-2.34	0.56301	N	0.599	0.64478	-0.3965	0.72138	T	0.437	0.77689	T	9	0.7207707	0.73647	D	0.015651	0.36500	T	0.278	0.59497	.	.	0.690638299042	0.68798	0.07927601705768464	0.07862	0.44446215622	0.44356	0.725114822388	0.70793	T	0.13914	0.47301	T	-0.199582	0.20866	T	-0.269416	0.47877	T	0.30120703163499	0.25054	T	0.943306	0.78595	D	0.4497946	0.64028	0.4705324	0.69298	0.4497946	0.64028	0.4705324	0.69298	-4.081	0.25009	T	.	.	0.312	0.55445	B	.;.	.;.	5.087910	0.84947	28.5	0.99898830190482446	0.97124	0.96931	0.71725	D	AEFDGBCI	0.914367	0.87762	D	0.60085677045361	0.73229	5.932126	0.541326930173707	0.70795	5.558129	0.999999999999999	0.74766	0.730579	0.87903	0	0.653731	0.59785	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.65	5.65	0.86881	6.338000	0.72914	7.719000	0.67224	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	19.792	0.96457	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1381.83	104	chr3	168024558	.	C	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.21;DP=274;ExcessHet=0;FS=2.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.784;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	5	0	1	0
chr3	169795546	169795546	G	C	exonic	LRRC34	.	nonsynonymous SNV	LRRC34:NM_153353:exon9:c.C1034G:p.T345R,LRRC34:NM_001172779:exon10:c.C1130G:p.T377R,LRRC34:NM_001363888:exon10:c.C947G:p.T316R,LRRC34:NM_001370608:exon10:c.C944G:p.T315R	.	.	.	.	.	.	.	.	.	.	.	3696808	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00821379714003	.	.	3.318e-05	0	0	0	0	6.042e-05	0	0	3.88e-05	6	154602	rs779249250	2.534e-05	2.531e-05	2.453e-05	2.615e-05	0.0002	1.869e-05	1.632e-05	1.999e-05	1.742e-05	0	0	0	0	0	0.0002	2.79e-05	3.316e-05	3.482e-05	6.571e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.058	0.37750	T	0.12	0.35970	T	0.006	0.13644	B	0.024	0.20255	B	0.252180	0.15486	N	0.677027	0.910919	0.27508	N	.	.	.	0.67	0.52187	T	-3.44	0.67477	D	0.295	0.33360	-0.9713	0.36925	T	0.119	0.41735	T	10	0.25338554	0.42704	T	0.008214	0.21750	T	0.116	0.32463	.	.	0.534907319155	0.53140	0.3504390605146902	0.34957	0.0789236741469	0.08879	0.423475891352	0.28315	T	.	.	.	-0.269274	0.11838	T	-0.438666	0.28958	T	0.0775960399056568	0.09676	T	0.60154	0.23867	T	0.1690816	0.37403	0.21950306	0.46691	0.1690816	0.37402	0.21950306	0.46690	-5.777	0.44373	T	.	.	0.077	0.09288	B	.;.;.	.;.;.	1.168718	0.15580	11.96	0.948963353572431	0.25743	0.81327	0.40754	D	AEFBI	0.175827	0.30302	N	-0.48846315073853	0.22458	1.199345	-0.451583611419044	0.23504	1.282099	0.0525151714780333	0.14909	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.29	3.46	0.38718	0.527000	0.22695	1.200000	0.24830	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.1953:0.0:0.6736:0.1312	6.880	0.23348	472	0.77968	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1389.83	34	chr3	169795546	.	G	C	1389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.014;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.227;SOR=0.768	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1306	5	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.08333	2042.83	134	chr3	175097119	.	G	A	2042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.659;DP=533;ExcessHet=0;FS=3.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.253;SOR=0.444	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	5	0	1	0
chr3	175755261	175755261	C	T	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon13:c.C2032T:p.R678C	.	.	.	.	.	.	.	.	.	.	.	2355726	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0245376586998	0.0002	0.000199681	9.146e-05	0.0001	0.0003	0	0	9.016e-05	0	6.084e-05	8.41e-05	13	154602	rs375780484	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	8.963e-05	0.0003	0	0	0	0	0.0002	6.627e-05	3.482e-05	0.0001	0.0001	0.0002	5.375e-05	0.0002	8.168e-05	6.724e-05	0.0001	8.878e-05	2.409e-05	0	0.0002	0	0	9.411e-05	0	0.0002	0	0.0002	0.02	0.49613	D	0.075	0.42794	T	0.991	0.64070	D	0.425	0.45259	B	0.068169	0.21690	N	0.486738	1	0.08975	N	1.245	0.31408	L	1.47	0.31987	T	-1.29	0.32387	N	0.22	0.24634	-1.0630	0.11021	T	0.046	0.19879	T	10	0.070068	0.10143	T	0.024538	0.47528	T	0.103	0.29403	.	.	0.332902724076	0.32905	0.4564149375732843	0.45559	0.00460650388097	0.00407	0.258361548185	0.04698	T	0.051213	0.28817	T	-0.397417	0.02407	T	-0.506917	0.21632	T	0.0263902897268757	0.01459	T	.	.	.	0.07823957	0.17806	0.03809779	0.03603	0.07823957	0.17806	0.03809779	0.03603	-8.071	0.61553	D	.	.	0.083	0.09045	B	.	.	1.645532	0.20997	15.00	0.98493613353854637	0.42132	0.07820	0.13815	N	AEFI	0.073752	0.14762	N	-0.388724093829951	0.25869	1.407554	-0.498715101151665	0.22190	1.204003	3.71753549402549E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.71	2.69	0.30923	-0.009000	0.12703	-0.232000	0.10668	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.3795:0.4302:0.1188:0.0716	4.745	0.12409	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1028.83	36	chr3	175755261	.	C	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=303;ExcessHet=0;FS=1.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-2.153;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	5	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.08333	511.83	26	chr3	179240022	.	T	C	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.377;DP=177;ExcessHet=0;FS=1.757;MLEAC=1;MLEAF=0.083;MQ=58.88;MQRankSum=0.662;QD=19.69;ReadPosRankSum=-0.696;SOR=1.23	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1076	5	0	1	0
chr3	180631496	180631496	C	A	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon14:c.G1971T:p.E657D	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	YES	953400	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.049	0.00282973396555	0.0003	0.000199681	0.0001	0.0013	0	0	0	1.517e-05	0	0	0.0001035	16	154602	rs111451119	5.019e-05	4.994e-05	5.885e-05	4.144e-05	0.0013	4.079e-05	3.753e-05	0.0010	0.0008	0.0013	4.476e-05	0	2.521e-05	0	0	9.002e-07	0.0004	2.322e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.539e-05	0	0.0002	0	0	0	0	0	0.212	0.19500	T	0.127	0.35082	T	0.384	0.34453	B	0.166	0.35067	B	0.000097	0.51296	D	0.168703	0.885558	0.29934	N	1.825	0.47900	L	.	.	.	-1.11	0.28703	N	0.292	0.33030	-1.0300	0.20454	T	0.091	0.34901	T	9	0.021162093	0.00501	T	0.00283	0.05927	T	0.049	0.13647	0.322	0.30226	0.301455362545	0.29754	.	.	0.124896844597	0.14072	0.64540541172	0.59333	T	8.1E-4	0.00397	T	-0.516635	0.00460	T	-0.520435	0.20250	T	0.0450525960272137	0.04612	T	0.666933	0.27600	T	0.08411591	0.19456	0.09704101	0.23083	0.08411591	0.19456	0.09704101	0.23082	-7.289	0.56117	T	.	.	.	.	.	.	.	2.376447	0.30503	18.46	0.9940770537350605	0.63122	0.51269	0.28856	D	AEFDBHCI	0.150302	0.27456	N	-0.0958570609607922	0.37574	2.187963	-0.0336439488967827	0.38205	2.247643	0.999840597844066	0.43971	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	4.87	2.11	0.26299	1.264000	0.32618	0.976000	0.23092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.6654:0.0:0.3346	7.784	0.28247	597	0.68309	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1042.83	35	chr3	180631496	.	C	A	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=1.75;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	5	0	1	0
chr3	183389769	183389769	C	T	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon2:c.G87A:p.M29I	.	427	1068	24	3	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0232574772145	0.0013	0.00119808	0.0027	0	0.0022	0	0	0.0030	0.0044	0.0059	0.0023932	370	154602	rs61752076	0.0017	0.0017	0.0015	0.0019	0.0116	0.0017	0.0016	0.0094	0.0086	0.0005	0.0023	0.0206	0	1.872e-05	0.0116	0.0009	0.0036	0.0063	0.0018	0.0018	0.0017	0.0018	0.0069	0.0016	0.0015	0.0050	0.0044	0.0002	0	0.0024	0.0213	0	0	0.0170	0.0015	0.0047	0.0069	0.006	0.63226	D	0.013	0.92824	D	0.164	0.60381	B	0.036	0.62825	B	0.000000	0.84330	D	0.000000	0.999583	0.47691	D	2.61	0.76335	M	4.56	0.44461	T	-2.34	0.59389	N	0.57	0.59308	-0.4387	0.70774	T	0.269	0.64066	T	10	0.0058627725	0.00225	T	0.023257	0.46211	T	0.211	0.50185	0.354	0.35408	0.699295303354	0.69669	0.7719261515607554	0.77142	0.364487451993	0.38064	0.625366687775	0.56489	T	0.084621	0.37319	T	-0.390272	0.02679	T	-0.330764	0.41383	T	0.0727788167714638	0.09036	T	0.961204	0.90223	D	0.47927946	0.65856	0.42337087	0.66210	0.47927946	0.65857	0.42337087	0.66210	-6.157	0.51463	T	.	.	0.550	0.70227	A	.;.;.;.;.;.	.;.;.;.;.;.	3.971847	0.58326	24.0	0.99787139048263984	0.87308	0.94675	0.61946	D	AEFDBI	0.691986	0.65180	D	0.570421412318507	0.71333	5.63512	0.571583180467694	0.72910	5.885064	0.999999990934825	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	6.673000	0.74320	3.464000	0.38534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.956	0.86131	506	0.75555	CRAL-TRIO lipid binding domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.009511	0.005848	0.000000	0.008621	0.009146	0.011364	0.1667	2455.04	33	chr3	183389769	.	C	T	2455.04	.	AC=2;AF=0.167;AN=12;DP=261;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.23;SOR=0.897	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	1	0	0
chr3	183427934	183427934	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon1:c.C44T:p.T15I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00660457467282	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762518014	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.374	0.21801	T	0.302	0.21343	T	0.164	0.28467	B	0.082	0.29098	B	0.493114	0.12035	N	0.705821	0.999997	0.08975	N	0	0.06538	N	4.6	0.05014	T	-0.73	0.22294	N	0.131	0.36254	-0.8996	0.48034	T	0.009	0.03403	T	10	0.085594	0.14465	T	0.006605	0.17415	T	0.051	0.14325	0.291	0.25241	0.126345400529	0.12197	0.5521432921304901	0.55140	0.246615040871	0.27195	0.57146781683	0.48886	T	0.001833	0.01251	T	-0.273267	0.11395	T	-0.630305	0.10392	T	0.0943536176074672	0.11724	T	0.644736	0.25622	T	0.03542631	0.04169	0.05104339	0.08136	0.03542631	0.04168	0.05104339	0.08135	-3.695	0.19318	T	.	.	0.164	0.39562	B	.;.;.;.	.;.;.;.	1.708643	0.21757	15.34	0.99048282165603896	0.51185	0.45381	0.27526	N	AEFDBCI	0.116843	0.22916	N	-0.766927026339181	0.14178	0.7041588	-0.618369487850296	0.19021	1.018746	0.998480546726633	0.37052	0.65757	0.49021	0	0.491552	0.07993	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	5.31	-0.0823	0.13033	0.772000	0.26309	0.394000	0.17923	-1.782000	0.00650	1.000000	0.71638	0.953000	0.29079	0.496000	0.28927	0.0858:0.6032:0.311:0.0	10.138	0.41891	568	0.70638	CRAL-TRIO lipid binding domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	962.83	33	chr3	183427934	.	G	A	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.707;SOR=0.61	GT:AD:DP:GQ:PL	0/1:31,40:71:99:973,0,687	5	0	1	0
chr3	184038904	184038904	C	A	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon6:c.C769A:p.L257M,HTR3D:NM_001145143:exon8:c.C1144A:p.L382M,HTR3D:NM_001163646:exon8:c.C1294A:p.L432M	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	.	0.0090	0.00938498	0.0049	0.0255	0.0084	0.0002	0.0003	0.0023	0.0110	0.0035	0.0045795	708	154602	rs115389821	0.0026	0.0026	0.0026	0.0026	0.0273	0.0026	0.0025	0.0258	0.0252	0.0273	0.0079	0.0064	0.0004	0.0003	0.0135	0.0015	0.0062	0.0036	0.0089	0.0089	0.0088	0.0090	0.0225	0.0085	0.0083	0.0213	0.0208	0.0225	0	0.0114	0.0046	0	0.0003	0.0442	0.0022	0.0184	0.0048	0.036	0.43393	D	0.036	0.52060	D	0.372	0.68779	B	0.377	0.60615	B	0.000124	0.49741	D	0.000000	0.998285	0.22833	N	2.165	0.60562	M	-1.85	0.84267	D	-1.59	0.39503	N	0.459	0.51672	-0.3990	0.72059	T	0.438	0.77708	T	10	0.010040611	0.00225	T	.	.	.	0.469	0.76355	.	.	0.535584383668	0.53208	0.09576115716129735	0.09508	0.56031135281	0.52562	.	.	.	0.00821	0.07549	T	-0.305625	0.08140	T	-0.192861	0.55322	T	0.0194617689242302	0.00650	T	0.511449	0.16356	T	0.15048273	0.34256	0.15137953	0.35662	0.15048273	0.34256	0.15137953	0.35661	-6.913	0.58778	T	.	.	0.170	0.40164	B	.;.;.;.	.;.;.;.	3.198392	0.43488	21.7	0.9938717465868433	0.62157	0.97399	0.74502	D	AEFDGBI	0.397479	0.47354	N	0.188782622342907	0.50661	3.253971	0.215602674663568	0.50713	3.260472	0.938049403297843	0.27325	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.11	3.23	0.36150	4.016000	0.56871	1.049000	0.23621	0.596000	0.33519	0.998000	0.41325	0.063000	0.22074	0.583000	0.30967	0.0:0.878:0.0:0.122	7.056	0.24278	237	0.90758	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.070707	0.042120	0.014620	0.050000	0.008621	0.000000	0.000000	0.1667	6440.04	55	chr3	184038904	.	C	A	6440.04	.	AC=2;AF=0.167;AN=12;DP=559;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.72;QD=29.95;SOR=0.906	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	5	1	0	0
chr3	184097546	184097546	T	C	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256613:exon1:c.T17C:p.F6S,HTR3E:NM_198313:exon1:c.T17C:p.F6S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	.	0.00539137	0.0011	0.0268	0	0	0	0	0	0.0001	0.000414	64	154602	rs141876588	0.0005	0.0005	0.0006	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0006	0	0	0	0.0012	4.635e-06	0.0013	8.835e-05	0.0057	0.0057	0.0060	0.0054	0.0203	0.0054	0.0052	0.0192	0.0187	0.0203	0	0.0009	0	0	0	0	2.941e-05	0.0024	0	0.258	0.16683	T	0.409	0.14588	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.12	0.77593	T	0.01	0.06868	N	0.221	0.35194	-1.0001	0.29888	T	0.111	0.39982	T	8	0.002851963	0.00045	T	.	.	.	0.144	0.38394	.	.	0.324161360171	0.32030	.	.	.	.	.	.	.	5.85E-4	0.00238	T	-0.437452	0.01339	T	-0.38489	0.35148	T	0.0149488448467955	0.00319	T	0.204979	0.02394	T	0.051119152	0.09341	0.11011364	0.26547	0.051119152	0.09340	0.11011364	0.26546	-2.55	0.06132	T	.	.	0.104	0.18950	B	.;.	.;.	0.850572	0.12226	8.771	0.84094208226970979	0.15093	0.00648	0.02824	N	AEFDGI	0.026440	0.01987	N	-1.08929741401198	0.06840	0.3159968	-1.20546653196143	0.05821	0.2784674	0.863204157789369	0.25266	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.33	-6.38	0.01784	-0.501000	0.06479	-0.786000	0.07434	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0:0.3301:0.4633:0.2066	6.139	0.19468	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1356.83	34	chr3	184097546	.	T	C	1356.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.374;DP=272;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.428;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1284	5	0	1	0
chr3	184106595	184106595	T	G	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256614:exon7:c.T1351G:p.L451V,HTR3E:NM_198314:exon7:c.T1273G:p.L425V,HTR3E:NM_182589:exon8:c.T1318G:p.L440V,HTR3E:NM_198313:exon8:c.T1228G:p.L410V,HTR3E:NM_001256613:exon9:c.T1273G:p.L425V	.	417	1104	1	0	0	1	0.000452694	.	.	.	720318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0068	0.00519169	0.0018	0.0174	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0.0016623	257	154602	rs149134892	0.0006	0.0006	0.0007	0.0005	0.0188	0.0006	0.0005	0.0176	0.0171	0.0188	0.0005	0.0006	0.0006	5.616e-05	0.0014	5.576e-05	0.0012	0.0002	0.0055	0.0055	0.0056	0.0054	0.0192	0.0052	0.0050	0.0181	0.0177	0.0192	0	0.0010	0.0006	0.0004	0	0	0.0001	0.0028	0	1.0	0.02372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.038145	0.24318	N	0.297406	1	0.08975	N	-1.145	0.00921	N	-1.56	0.81815	D	1.19	0.01246	N	0.047	0.06059	-0.9205	0.45486	T	0.108	0.39075	T	10	0.0042127967	0.00084	T	.	.	.	0.181	0.45247	.	.	0.508875229312	0.50527	0.11231456028274468	0.11160	0.0571996759005	0.06330	0.317551642656	0.13049	T	9.42E-4	0.00494	T	-0.561691	0.00248	T	-0.565327	0.15880	T	0.0020096774383134	0.00021	T	0.0934907	0.00694	T	0.03469523	0.03943	0.03561062	0.02847	0.03469523	0.03943	0.03561062	0.02846	0.348	0.00325	T	.	.	0.054	0.00793	B	.;.;.;.;.	.;.;.;.;.	0.245752	0.06257	2.709	0.71916439245521535	0.09792	0.03953	0.09355	N	AEFDGI	0.031509	0.03385	N	-0.926962697143147	0.10215	0.4870712	-0.72343518805715	0.16377	0.8661002	0.00115866671105967	0.08283	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.11	0.34883	0.685000	0.25058	1.430000	0.26439	-0.852000	0.02700	0.944000	0.32806	0.943000	0.28828	0.454000	0.27984	0.0:0.1892:0.6146:0.1962	7.171	0.24895	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	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2633.83	43	chr3	184106595	.	T	G	2633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-2.629;QD=13.94;ReadPosRankSum=0.434;SOR=0.66	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1665	5	0	1	0
chr3	184233620	184233620	T	G	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_138345:exon4:c.T575G:p.L192R	.	.	.	.	.	.	.	.	.	.	.	2346750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0257977547289	.	.	0.0005	0	0	0	0	0	0	0.0012	6.47e-05	10	154602	rs776643359	5.862e-05	5.609e-05	3.95e-05	7.826e-05	0.0009	4.817e-05	4.427e-05	0.0008	0.0007	0	0	0	0	0	0.0004	4.634e-06	3.449e-05	0.0009	4.6e-05	4.596e-05	1.285e-05	8.072e-05	0.0014	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.562	0.06341	T	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.08	0.61559	T	-0.46	0.14978	N	0.258	0.29197	-1.0508	0.14175	T	0.074	0.29834	T	9	0.015666753	0.00329	T	0.025798	0.48750	D	0.097	0.27909	0.417	0.45709	0.233785782151	0.22967	0.4764701632773718	0.47567	0.944440780139	0.72360	0.419413387775	0.27756	T	.	.	.	-0.3698	0.03604	T	-0.376773	0.36099	T	0.0183062336743064	0.00549	T	0.560444	0.19591	T	0.087316155	0.20328	0.07519121	0.16528	0.087316155	0.20328	0.07519121	0.16528	-3.121	0.11539	T	.	.	0.069	0.03026	B	.	.	0.849027	0.12210	8.756	0.96447385758919524	0.29851	0.32955	0.24711	N	AEFDGBI	0.300533	0.40929	N	-0.869979112437357	0.11561	0.5586024	-0.880253348148952	0.12562	0.6469135	0.158099170044526	0.17549	0.497415	0.19182	0	0.59043	0.45803	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	3.84	-1.79	0.07504	-0.143000	0.10278	-0.798000	0.07386	0.665000	0.62972	0.011000	0.18532	0.000000	0.08366	0.963000	0.52385	0.1947:0.373:0.0:0.4324	3.232	0.06354	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	460.83	45	chr3	184233620	.	T	G	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.904;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.151;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:90:.:.:0,90,1047:.	5	0	1	0
chr3	184289512	184289512	A	T	exonic	ECE2;EEF1AKMT4-ECE2	.	nonsynonymous SNV	ECE2:NM_001037324:exon11:c.A1363T:p.T455S,ECE2:NM_001100120:exon12:c.A1588T:p.T530S,ECE2:NM_001100121:exon12:c.A1450T:p.T484S,EEF1AKMT4-ECE2:NM_014693:exon12:c.A1804T:p.T602S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.105507280042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.91255	T	0.152	0.65728	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.22	0.78752	T	-3.75	0.71157	D	0.862	0.86404	0.178	0.85541	D	0.584	0.85056	D	10	0.8529899	0.84483	D	0.105507	0.78065	D	0.772	0.92336	0.746	0.87738	0.840926168376	0.83940	0.8108984407415724	0.81859	0.716615427626	0.62001	0.57810819149	0.49819	T	0.385845	0.74714	T	0.213414	0.75153	D	0.0687781	0.74828	D	0.996396720409393	0.89257	D	0.793521	0.43953	T	0.30046102	0.83207	0.35574615	0.85733	0.30046102	0.83208	0.35574615	0.85734	-7.6	0.63405	D	.	.	0.730	0.77325	P	.;.;.;.;.	.;.;.;.;.	4.677846	0.74826	26.2	0.99581655965841576	0.73040	0.99162	0.92143	D	ALL	0.956275	0.97471	D	0.771765381707648	0.84311	8.25305	0.74010803744311	0.85417	8.57407	0.999999999999751	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.825845	0.99933	0	.	.	5.03	5.03	0.67015	8.962000	0.92962	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.252	0.53917	743	0.52768	Peptidase M13, N-terminal domain;.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal 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	.	.	.	.	.	.	.	.	0.08333	969.83	33	chr3	184289512	.	A	T	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.021;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.125;SOR=0.793	GT:AD:DP:GQ:PL	0/1:41,41:82:99:980,0,997	5	0	1	0
chr3	184373566	184373566	T	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon5:c.A245G:p.Q82R,THPO:NM_001177597:exon5:c.A245G:p.Q82R,THPO:NM_001177598:exon5:c.A245G:p.Q82R,THPO:NM_001289997:exon5:c.A245G:p.Q82R,THPO:NM_001290028:exon5:c.A245G:p.Q82R,THPO:NM_001289998:exon6:c.A245G:p.Q82R,THPO:NM_001290003:exon6:c.A665G:p.Q222R,THPO:NM_001290022:exon6:c.A245G:p.Q82R,THPO:NM_001290026:exon6:c.A245G:p.Q82R,THPO:NM_001290027:exon6:c.A245G:p.Q82R	Thrombocythemia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3747135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0204917984351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038963770	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.011396	0.29550	N	0.159467	0.621535	0.81001	D	2.015	0.55033	M	0.87	0.46412	T	-2.7	0.57599	D	0.304	0.34336	-0.9503	0.40920	T	0.136	0.45145	T	10	0.79611075	0.79085	D	0.020492	0.43095	T	0.230	0.53062	0.853	0.95376	0.727570700033	0.72515	0.4950103823960129	0.49422	0.362069930752	0.37861	0.507831692696	0.39919	T	0.279351	0.65203	T	-0.163696	0.26194	T	-0.376061	0.36182	T	0.753995656967163	0.43509	D	0.741926	0.36121	T	0.5855984	0.71913	0.5287169	0.72770	0.5855984	0.71914	0.5287169	0.72771	-3.319	0.13984	T	0.6183747465141616	0.68652	0.115	0.24566	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.471242	0.48428	22.6	0.99783272448623628	0.86955	0.58846	0.30753	D	AEFDGBCI	0.358444	0.44912	N	0.16101229853096	0.49335	3.135028	0.217168036540244	0.50800	3.268277	0.999999984682268	0.74766	0.623552	0.39893	0	0.563428	0.19063	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	1.694000	0.37371	5.025000	0.46778	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	10.980	0.46702	881	0.29269	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1462.83	38	chr3	184373566	.	T	C	1462.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.439;DP=328;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.558;SOR=0.903	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	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	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.08333	1526.83	40	chr3	184383641	.	C	T	1526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=307;ExcessHet=0;FS=3.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.881;SOR=1.112	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	5	0	1	0
chr3	185192984	185192984	C	T	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.G1126A:p.V376I,EHHADH:NM_001966:exon7:c.G1414A:p.V472I	.	.	.	.	.	.	.	.	.	.	.	584826	not_specified|EHHADH-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.339	0.0117326521973	0.0002	0.000199681	0.0001	9.625e-05	0	0.0001	0	7.493e-05	0	0.0004	0.0001035	16	154602	rs138187022	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0006	0	0	0.0012	1.872e-05	0.0005	0.0001	6.623e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	6.538e-05	0	0.0004	0	0	0.0001	0	0	0.009	0.57480	D	0.087	0.40747	T	0.991	0.64070	D	0.696	0.54017	P	0.000003	0.62929	D	0.060524	0.987856	0.40661	D	1.625	0.41611	L	-1.16	0.78082	T	-0.08	0.08187	N	0.232	0.29544	-0.0709	0.80760	T	0.477	0.79971	T	10	0.15416059	0.29085	T	0.011733	0.29644	T	0.339	0.66106	.	.	0.45349784317	0.44971	0.4450167487452453	0.44419	0.353594807961	0.37155	0.401955962181	0.25341	T	0.200003	0.55745	T	-0.227924	0.16923	T	-0.207689	0.53915	T	0.0367794597645217	0.03118	T	0.964304	0.86758	D	0.103788204	0.24531	0.09484508	0.22467	0.103788204	0.24531	0.09484508	0.22466	-6.62	0.53807	T	0.4061130640625613	0.49718	0.119	0.24599	B	.;.	.;.	3.555306	0.49998	22.9	0.99780814250822381	0.86780	0.95065	0.63310	D	AEFBI	0.661896	0.63195	D	0.557239246128965	0.70522	5.514159	0.582698630936299	0.73698	6.013556	0.999454180936676	0.39788	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	2.851000	0.48001	5.773000	0.49755	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.855000	0.40485	0.0:0.8643:0.1357:0.0	15.742	0.77670	670	0.60992	3-hydroxyacyl-CoA dehydrogenase, NAD binding;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2189.83	33	chr3	185192984	.	C	T	2189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.62;DP=421;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.56;SOR=0.761	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr3	185428593	185428593	T	G	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_004721:exon2:c.T12G:p.F4L,MAP3K13:NM_001242314:exon3:c.T12G:p.F4L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00219649	0.0009	0.0001	8.775e-05	0	0	0	0	0.0091	0.000815	126	154602	rs372148911	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	0	0	0.0004	2.736e-06	0.0006	0.0066	0.0002	0.0002	8.995e-05	0.0004	0.0071	0.0002	0.0001	0.0052	0.0046	0	0	0	0	0	0	0	0	0	0.0071	0.082	0.39575	T	0.246	0.33554	T	0.001	0.07471	B	0.001	0.04355	B	0.064024	0.21981	N	0.399981	1	0.81001	D	0	0.06538	N	1.02	0.74477	T	-0.91	0.24460	N	0.108	0.09349	-0.9357	0.43288	T	0.171	0.51309	T	10	0.0060169697	0.00135	T	.	.	.	0.108	0.30607	0.106	0.01810	0.645582888323	0.64264	0.09886918324242477	0.09817	0.117208668594	0.13211	0.424890577793	0.28509	T	0.018039	0.14613	T	-0.37628	0.03288	T	-0.310526	0.43601	T	0.0575131279618463	0.06771	T	0.731927	0.35599	T	0.0805983	0.18476	0.0908281	0.21322	0.0805983	0.18475	0.0908281	0.21322	-2.094	0.03558	T	.	.	0.255	0.49018	B	.;.;.;.	.;.;.;.	3.026506	0.40527	21.2	0.98494474586907621	0.42144	0.89079	0.49333	D	AEFBI	0.305876	0.41318	N	-0.348961987436027	0.27309	1.49736	-0.134788635808498	0.33998	1.950859	0.070671162277874	0.15537	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.61	4.46	0.53567	1.547000	0.35798	4.217000	0.42569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0719:0.1426:0.7855	7.470	0.26510	618	0.66225	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1614.83	123	chr3	185428593	.	T	G	1614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=311;ExcessHet=0;FS=0.686;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.278;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1123	5	0	1	0
chr3	185494729	185494729	-	A	exonic	TMEM41A	.	frameshift insertion	TMEM41A:NM_080652:exon4:c.467dupT:p.L158Ifs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.161e-05	9.69e-05	0	0	0	0	0	0.0003	0.0006531	17	26028	rs766594251	1.922e-05	9.85e-05	1.776e-05	2.07e-05	0.0002	1.333e-05	1.148e-05	2.215e-05	1.445e-05	0	2.313e-05	0	0	0	0.0002	1.621e-05	4.988e-05	5.868e-05	2.634e-05	3.284e-05	3.864e-05	1.347e-05	6.555e-05	8.15e-06	5.15e-06	8e-06	2.99e-06	4.826e-05	0	6.555e-05	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	266.79	33	chr3	185494729	.	G	GA	266.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.499;DP=214;ExcessHet=0;FS=3.431;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.126;SOR=0.245	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	5	0	1	0
chr3	186539580	186539580	G	T	exonic	CRYGS	.	nonsynonymous SNV	CRYGS:NM_017541:exon2:c.C39A:p.D13E	Cataract 20, multiple types, Autosomal dominant	423	1084	15	0	0	15	0.00687128	.	.	.	691348	Cataract_20_multiple_types|not_provided|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0010922,MONDO:MONDO:0007284,MedGen:C0524524,OMIM:116100,Orphanet:91492|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0128625011394	0.0008	.	0.0005	0	0.0004	0	0.0002	0.0006	0.0022	0.0009	0.0005045	78	154602	rs147971015	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0004	0.0051	2.519e-05	0.0001	0.0038	0.0003	0.0009	0.0007	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	0.0001	0	0.0007	0.0084	0.0002	0	0.0034	0.0003	0.0005	0.0004	0.169	0.22920	T	0.387	0.15650	T	0.001	0.07471	B	0.009	0.14300	B	0.000001	0.62929	U	0.000000	0.970701	0.38817	D	.	.	.	-0.85	0.74371	T	-2.99	0.62151	D	0.264	0.29889	-0.7614	0.57329	T	0.262	0.63307	T	10	0.015340984	0.00322	T	0.012863	0.31797	T	0.187	0.46274	0.486	0.56939	0.83842865877	0.83688	0.4817698219512658	0.48096	0.13621368345	0.15359	0.530252754688	0.43070	T	0.560505	0.85279	D	-0.409622	0.01999	T	-0.433975	0.29485	T	0.0290319918323495	0.01842	T	0.854015	0.53996	D	0.67831224	0.76878	0.44590557	0.67723	0.67831224	0.76879	0.44590557	0.67723	-6.877	0.53129	T	0.1850804401560048	0.24034	0.37	0.58084	A	.;.	.;.	2.188719	0.27903	17.62	0.98702078544385008	0.44924	0.90115	0.51042	D	AEFBI	0.412754	0.48270	N	-0.179809111056982	0.33977	1.93384	-0.0158909368517836	0.38997	2.305634	0.999967517401793	0.48965	0.615465	0.37627	0	0.633563	0.54681	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.91	4.12	0.47504	2.200000	0.42358	1.580000	0.27469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0825:0.3375:0.58:0.0	8.374	0.31593	778	0.48011	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.017241	0.006098	0.003788	0.08333	3308.83	33	chr3	186539580	.	G	T	3308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=461;ExcessHet=0;FS=3.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.305;SOR=0.523	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	5	0	1	0
chr3	187698746	187698746	G	A	exonic	RTP2	.	nonsynonymous SNV	RTP2:NM_001004312:exon2:c.C430T:p.R144C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00798886405599	.	.	1.684e-05	0	0	0	0	3.065e-05	0	0	1.29e-05	2	154602	rs778642249	6.363e-05	6.362e-05	7.216e-05	5.501e-05	8.094e-05	5.295e-05	4.911e-05	6.697e-05	6.198e-05	2.987e-05	0	0	0	0	0	8.094e-05	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.051	0.39334	T	0.0	0.92824	D	0.978	0.58756	D	0.799	0.58136	P	0.029599	0.25432	N	0.435417	0.99929	0.46578	D	1.735	0.44892	L	1.88	0.23884	T	-1.87	0.43717	N	0.367	0.40864	-1.1428	0.01257	T	0.087	0.33774	T	10	0.26278293	0.43749	T	0.007989	0.21188	T	0.127	0.34888	0.34	0.33141	0.17948927462	0.17512	0.5939207823445863	0.59322	0.301963139653	0.32530	0.600537180901	0.52981	T	0.181983	0.53384	T	-0.22299	0.17588	T	-0.375939	0.36197	T	0.46584764122963	0.31379	T	0.936706	0.76258	D	0.130065	0.30360	0.102095924	0.24459	0.130065	0.30360	0.102095924	0.24459	-4.217	0.26997	T	.	.	0.263	0.49750	B	.	.	4.239737	0.64268	24.7	0.99860191489241046	0.93911	0.80661	0.40241	D	AEFDGBI	0.323396	0.42560	N	0.347647526931147	0.58616	4.034886	0.329705049767056	0.57291	3.894442	0.888342128639499	0.25786	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	1.787000	0.38336	7.569000	0.60664	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	11.995	0.52490	861	0.33516	Zinc-binding domain|Zinc-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1173.83	37	chr3	187698746	.	G	A	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.5;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	5	0	1	0
chr3	188609657	188609657	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001375465:exon5:c.G926A:p.G309D,LPP:NM_001375455:exon6:c.G926A:p.G309D,LPP:NM_001375456:exon6:c.G926A:p.G309D,LPP:NM_001375458:exon6:c.G926A:p.G309D,LPP:NM_001375459:exon6:c.G926A:p.G309D,LPP:NM_001375461:exon6:c.G926A:p.G309D,LPP:NM_001375463:exon6:c.G926A:p.G309D,LPP:NM_005578:exon6:c.G926A:p.G309D,LPP:NM_001167671:exon7:c.G926A:p.G309D,LPP:NM_001375457:exon7:c.G926A:p.G309D,LPP:NM_001375460:exon7:c.G926A:p.G309D,LPP:NM_001375462:exon7:c.G926A:p.G309D,LPP:NM_001375464:exon7:c.G926A:p.G309D	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	2	1501	18	1	0	20	0.00661813	.	.	.	4013934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	0.0367342503907	0.0015	0.00359425	0.0016	0.0002	0.0013	0	0.0011	0.0021	0.0011	0.0019	0.00174	269	154602	rs146859876	0.0017	0.0017	0.0016	0.0018	0.0128	0.0017	0.0016	0.0105	0.0096	0.0004	0.0013	7.652e-05	5.038e-05	0.0012	0.0128	0.0017	0.0017	0.0030	0.0017	0.0017	0.0018	0.0016	0.0056	0.0015	0.0014	0.0040	0.0034	0.0002	0	0.0029	0	0	0.0007	0.0136	0.0023	0.0028	0.0056	0.0	0.91255	D	0.235	0.59159	T	1.0	0.90584	D	1.0	0.97372	D	0.005648	0.32621	N	0.343130	0.999961	0.54805	D	2.125	0.59049	M	1.34	0.44461	T	-3.73	0.70920	D	0.654	0.66443	-0.5845	0.65439	T	0.267	0.63823	T	10	0.0089096725	0.00202	T	0.036734	0.57180	D	0.199	0.48268	.	.	0.336933722576	0.33308	0.5263558457889815	0.52559	.	.	0.482655346394	0.36423	T	0.123994	0.46496	T	-0.277763	0.10906	T	-0.176379	0.56858	T	0.0506788122094624	0.05619	T	0.813919	0.46746	T	0.12770984	0.29877	0.22660209	0.47643	0.16229701	0.36296	0.25691986	0.51399	-5.619	0.42965	T	.	.	0.412	0.60259	A	.;.;.;.;.	.;.;.;.;.	3.625113	0.51325	23.1	0.99848330620631875	0.92750	0.99145	0.91890	D	AEFBI	0.705509	0.66087	D	0.537573026915671	0.69327	5.341443	0.527227981335329	0.69829	5.416461	0.999999998551546	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	5.905000	0.69631	3.773000	0.39761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8481:0.1519	14.917	0.70452	798	0.45050	.;.;.;.;.	.	.	.	.	.	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	0.009567	0.010101	0.009511	0.020468	0.000000	0.000000	0.003049	0.011364	0.08333	2088.83	34	chr3	188609657	.	G	A	2088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.505;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.727;SOR=0.721	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2099,0,2329	5	0	1	0
chr3	193402746	193402746	G	A	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon30:c.C3497T:p.P1166L	.	422	1088	11	1	0	13	0.00593878	.	.	.	733968	not_provided|ATP13A4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0004	0.00359425	0.0013	0.0005	0.0002	0.0001	0	0.0004	0.0011	0.0076	0.001229	190	154602	rs149270045	0.0007	0.0007	0.0005	0.0009	0.0078	0.0007	0.0007	0.0073	0.0071	0.0004	0.0003	0.0050	0.0001	1.872e-05	0.0010	0.0001	0.0010	0.0078	0.0006	0.0006	0.0005	0.0007	0.0102	0.0005	0.0004	0.0079	0.0071	0.0003	0	0.0001	0.0049	0.0006	0	0	7.351e-05	0	0.0102	0.048	0.47745	D	0.0	0.92824	D	0.157	0.28234	B	0.067	0.27542	B	0.000198	0.48115	N	0.089570	0.999985	0.54805	D	2.315	0.66250	M	0.28	0.59037	T	-8.51	0.97315	D	0.324	0.36464	-0.9062	0.47308	T	0.148	0.47433	T	10	0.006216049	0.00140	T	.	.	.	0.135	0.36572	.	.	0.543778624532	0.54031	0.6932985161187066	0.69269	0.141882990403	0.15996	0.360794395208	0.19502	T	0.121402	0.58954	T	-0.41212	0.01924	T	-0.361591	0.37868	T	0.0936805170469291	0.11648	T	0.858114	0.58915	D	0.2206421	0.44624	0.23345727	0.48536	0.2206421	0.44624	0.23345727	0.48535	-5.899	0.62546	T	.	.	0.128	0.36335	B	.;.;.	.;.;.	2.928019	0.38891	20.8	0.9889511675625664	0.48073	0.82306	0.41553	D	AEFI	0.407267	0.47941	N	-0.187330299859526	0.33660	1.912281	-0.100995623605461	0.35350	2.044146	0.00155343378347052	0.08639	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.0	4.12	0.47504	4.672000	0.61290	5.204000	0.47943	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.296000	0.24405	0.0878:0.0:0.9122:0.0	11.675	0.50688	529	0.73716	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.000000	0.000000	0.050000	0.000000	0.012195	0.003788	0.08333	863.83	33	chr3	193402746	.	G	A	863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=240;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.608;SOR=1.002	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1266	5	0	1	0
chr3	193448239	193448239	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon18:c.A2119G:p.I707V	.	419	1082	21	0	0	21	0.00961098	.	.	.	3199835	ATP13A4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0011	0.00798722	0.0053	0.0002	0.0016	0.0001	0	0.0015	0.0044	0.0316	0.0047541	735	154602	rs139578706	0.0028	0.0028	0.0020	0.0036	0.0284	0.0027	0.0027	0.0275	0.0271	0.0001	0.0015	0.0009	7.557e-05	0	0.0173	0.0011	0.0030	0.0284	0.0020	0.0020	0.0016	0.0025	0.0340	0.0019	0.0018	0.0297	0.0281	0.0001	0	0.0024	0.0006	0.0002	0	0.0204	0.0013	0.0024	0.0340	0.311	0.14064	T	0.311	0.19660	T	0.027	0.19556	B	0.038	0.23361	B	0.004371	0.33816	N	0.249276	0.96754	0.25844	N	0.965	0.23975	L	-0.25	0.67011	T	0.01	0.06868	N	0.326	0.37509	-0.9742	0.36301	T	0.092	0.34983	T	10	0.0068852603	0.00156	T	.	.	.	0.051	0.14325	.	.	0.630113592811	0.62709	0.14474421721900954	0.14397	0.137857802033	0.15542	0.44773003459	0.31633	T	0.306865	0.67905	T	-0.496828	0.00596	T	-0.464806	0.26078	T	0.0173163278083805	0.00471	T	0.375062	0.09032	T	0.12286591	0.28863	0.09017917	0.21131	0.12286591	0.28863	0.09017917	0.21131	-7.554	0.57989	D	.	.	0.073	0.04681	B	.;.	.;.	2.349307	0.30116	18.34	0.97513264720364456	0.34363	0.91546	0.53756	D	AEFBI	0.421381	0.48782	N	-0.202024640915687	0.33050	1.870798	-0.00907672235147589	0.39303	2.328322	0.507512550410884	0.20993	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.84	4.84	0.62125	2.637000	0.46219	1.888000	0.29498	0.665000	0.62972	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.540	0.61128	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.008152	0.017544	0.000000	0.017241	0.006098	0.018939	0.08333	879.83	60	chr3	193448239	.	T	C	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.714;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0.882;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1175	5	0	1	0
chr3	193467448	193467448	T	C	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon10:c.A982G:p.M328V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0592937816157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.362	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.586288	0.11094	N	0.820998	1	0.08975	N	-1.2	0.00838	N	-2.23	0.87116	D	0.06	0.08495	N	0.142	0.14196	-0.7662	0.57066	T	0.140	0.45997	T	9	0.04404524	0.03318	T	0.059294	0.67614	D	0.149	0.39377	0.398	0.42590	0.28297238246	0.27903	0.4259573891694064	0.42512	0.11650274929	0.13144	0.277720272541	0.07177	T	0.210535	0.57106	T	-0.254806	0.13514	T	-0.603787	0.12494	T	0.0348272048073098	0.02778	T	0.313969	0.06176	T	0.03639636	0.04468	0.04029383	0.04322	0.03639636	0.04468	0.04029383	0.04322	-3.205	0.12603	T	.	.	0.063	0.03849	B	.;.;.	.;.;.	-0.119819	0.03524	0.670	0.52914274318166354	0.04838	0.04570	0.10215	N	AEFI	0.066377	0.12995	N	-1.44002462634593	0.02296	0.1012358	-1.33907742204565	0.03936	0.1846565	1.59728617216004E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.16	-4.72	0.03032	-0.546000	0.06152	-0.177000	0.11169	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.826000	0.38927	0.226:0.2477:0.2299:0.2964	0.282	0.00228	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	40	chr3	193467448	.	T	C	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=240;ExcessHet=0;FS=3.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.607;SOR=1.275	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	5	0	1	0
chr3	194397564	194397564	C	T	exonic	GP5	.	nonsynonymous SNV	GP5:NM_004488:exon2:c.G719A:p.R240Q	.	.	.	.	.	.	.	.	.	.	.	2351821	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0116028375857	7.7e-05	.	9.988e-05	0	0	0	0	0.0002	0	6.057e-05	0.0001035	16	154602	rs145481862	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0	0	5.617e-05	0.0002	0.0001	9.934e-05	0.0001	9.864e-05	9.852e-05	6.427e-05	0.0001	0.0006	6.011e-05	4.884e-05	0.0002	9.033e-05	0	0	6.547e-05	0	0	0	0	0.0001	0.0005	0.0006	0.111	0.29029	T	0.561	0.09083	T	0.119	0.26641	B	0.015	0.17295	B	0.168238	0.03090	N	1.955270	1	0.08975	N	0.285	0.10073	N	0.45	0.56446	T	-0.19	0.09965	N	0.019	0.00279	-1.0092	0.27167	T	0.084	0.32900	T	10	0.07880819	0.12605	T	0.011603	0.29387	T	0.019	0.03383	.	.	0.1749357433	0.17121	0.21771615766214986	0.21687	.	.	0.196921691298	0.00373	T	0.066112	0.32863	T	-0.537905	0.00345	T	-0.716952	0.04944	T	0.024039405065951	0.01150	T	0.423358	0.11306	T	0.017463181	0.00275	0.042869482	0.05203	0.017463181	0.00275	0.042869482	0.05203	-4.105	0.25364	T	.	.	0.079	0.07507	B	.	.	-1.250417	0.00482	0.010	0.93925280299957536	0.23970	0.01755	0.05524	N	AEFDBI	0.078871	0.15921	N	-1.5101440957934	0.01782	0.07809959	-1.58966240113395	0.01718	0.07809019	0.999998518561902	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.33	-4.18	0.03584	-5.166000	0.00171	-7.441000	0.01156	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.217:0.2464:0.5365	8.666	0.33285	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1679.83	55	chr3	194397564	.	C	T	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=343;ExcessHet=0;FS=4.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.475;SOR=0.447	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	5	0	1	0
chr3	194642147	194642147	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon14:c.C1898T:p.A633V	.	425	1096	1	0	0	1	0.000455996	.	.	.	3284405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00557902780135	0.0002	.	0.0002	9.63e-05	0	0.0001	0	0.0003	0	0.0002	0.0001488	23	154602	rs148803086	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	8.961e-05	0.0001	0	0.0001	1.872e-05	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0.0004	9.468e-05	0	0.0003	0	0	0.357	0.12032	T	0.478	0.11968	T	0.012	0.16265	B	0.005	0.11217	B	0.780225	0.06650	N	1.106630	1	0.08975	N	0.73	0.18813	N	2.51	0.14284	T	-0.43	0.14390	N	0.03	0.00717	-0.9605	0.39087	T	0.025	0.10866	T	10	0.023689449	0.00628	T	0.005579	0.14409	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.15424760810213856	0.15345	0.102063321427	0.11557	0.295867085457	0.09787	T	0.003579	0.02990	T	-0.585366	0.00179	T	-0.776893	0.02548	T	0.00860556361517561	0.00105	T	0.475152	0.14192	T	0.08335482	0.19245	0.039863806	0.04177	0.08335482	0.19245	0.039863806	0.04176	-4.553	0.31576	T	.	.	0.073	0.04806	B	.	.	0.491722	0.08608	5.378	0.93071927827416612	0.22687	0.10702	0.16133	N	AEFBI	0.068782	0.13583	N	-1.07241776096976	0.07155	0.3315378	-1.06898374397572	0.08316	0.4083569	0.999614998996799	0.40981	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.94	0.886	0.18329	0.149000	0.16062	1.778000	0.28692	-0.767000	0.03477	0.000000	0.06391	0.006000	0.19429	0.003000	0.05239	0.3514:0.1165:0.5321:0.0	6.629	0.22040	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1277.83	34	chr3	194642147	.	G	A	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.745;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	5	0	1	0
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I,MUC20:NM_001291833:exon2:c.G443T:p.S148I,MUC20:NM_020790:exon2:c.G443T:p.S148I,MUC20:NM_152673:exon2:c.G443T:p.S148I	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	155.83	138	chr3	195725046	.	G	T	155.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.52;DP=705;ExcessHet=0;FS=75.71;MLEAC=1;MLEAF=0.083;MQ=35.3;MQRankSum=-3.375;QD=1;ReadPosRankSum=-3.895;SOR=6.09	GT:AD:DP:GQ:PL	0/1:136,20:156:99:166,0,3035	5	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	158.43	4	chr3	195725265	.	C	T	158.43	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.674;DP=29;ExcessHet=0.6695;FS=0;MLEAC=2;MLEAF=0.25;MQ=28.16;MQRankSum=0.674;QD=11.32;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:9:0,9,135	2	0	2	2
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2899.71	.	chr3	195725633	.	GCC	G	2899.71	.	AC=2;AF=0.25;AN=8;DP=111;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=33.76;QD=35.71;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,78:78:99:1|1:195725633_GCC_G:2915,234,0:195725633	3	1	0	2
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32,MUC20:NM_001291833:exon4:c.556_632del:p.V186Lfs*23,MUC20:NM_020790:exon4:c.613_689del:p.P205Gfs*24	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2911.38	.	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	2911.38	.	AC=2;AF=0.25;AN=8;DP=116;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=34.02;MQRankSum=0.548;QD=33.5;SOR=0.425	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,79:80:99:1|1:195725633_GCC_G:2927,207,0:195725633	3	1	0	2
chr3	195725774	195725774	-	GCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA	exonic	MUC20	.	nonframeshift insertion	MUC20:NM_001282506:exon2:c.1171_1172insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.W400_L536delinsRVSESSASSDSPHPVITPSWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*,MUC20:NM_001291833:exon4:c.658_659insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.S228_W229insRVSESSASSDSPHPVITPS,MUC20:NM_020790:exon4:c.715_716insGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA:p.D239_Q536delinsGPHPVITPSRVSESSASSDNGPHPVITPSWSPGSDVTLLAEALVTVTNIEVINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAETLSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVETPSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPFPTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENGGFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG*	.	455	1029	13	0	25	38	0.00627716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.893e-05	8.623e-05	4.832e-05	4.955e-05	0.0006	3.864e-05	3.472e-05	0.0003	0.0003	0	2.776e-05	0.0002	0.0006	0.0002	0	3.416e-05	4.437e-05	3.208e-05	2.75e-05	3.352e-05	2.665e-05	2.841e-05	8.576e-05	4.56e-06	1.71e-06	1.519e-05	6.3e-06	8.576e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2288.76	147	chr3	195725774	.	G	GGCCCCCATCCAGTCATCACCCCGTCACGGGTCTCAGAGAGCAGCGCCTCTTCCGACA	2288.76	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.275;DP=728;ExcessHet=0.4139;FS=8.145;MLEAC=1;MLEAF=0.1;MQ=34;MQRankSum=1.07;QD=9.58;ReadPosRankSum=1.05;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:63,0:105:99:0|1:195725633_GCC_G:1505,1695,4322:195725633	4	0	1	1
chr3	195733202	195733202	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon4:c.G2114A:p.R705H,MUC20:NM_001291833:exon6:c.G1601A:p.R534H,MUC20:NM_020790:exon6:c.G1658A:p.R553H,MUC20:NM_152673:exon6:c.G1601A:p.R534H	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0013	0.000998403	0.0046	0.0011	0.0004	0	0.0165	0.0046	0.0049	0.0055	0.0020569	318	154602	rs140657826	0.0026	0.0026	0.0026	0.0026	0.0040	0.0025	0.0025	0.0036	0.0035	0.0005	0.0002	0.0002	7.882e-05	0.0142	0.0021	0.0022	0.0027	0.0040	0.0026	0.0027	0.0023	0.0030	0.0033	0.0024	0.0023	0.0025	0.0023	0.0007	0	6.532e-05	0.0003	0	0.0154	0	0.0028	0.0005	0.0033	0.173	0.22573	T	0.133	0.34359	T	0.73	0.42641	P	0.144	0.33818	B	0.606453	0.10908	N	0.774714	0.999986	0.22840	N	1.355	0.33814	L	2.69	0.17596	T	-1.25	0.43149	N	0.161	0.25130	-1.0228	0.22802	T	0.022	0.09421	T	10	0.004782319	0.00101	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.056067761531843605	0.05547	.	.	0.3369795084	0.15985	T	0.010568	0.21799	T	-0.565819	0.00234	T	-0.58568	0.14043	T	0.0124333312482588	0.00204	T	0.646635	0.25786	T	0.031904172	0.03116	0.03558535	0.02838	0.031904172	0.03116	0.03558535	0.02838	-7.262	0.55925	T	.	.	0.126	0.26825	B	.;.;.	.;.;.	1.723419	0.21940	15.41	0.96356972786076622	0.29537	0.03308	0.08369	N	AEFDBHIJ	0.044540	0.07179	N	-0.564749849478855	0.20023	1.052514	-0.630300346832089	0.18716	1.001062	0.13784193717457	0.17216	0.549168	0.22868	0	0.588015	0.36545	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	4.24	1.46	0.21769	0.578000	0.23476	-0.924000	0.06908	0.663000	0.56723	0.200000	0.24308	0.000000	0.08366	0.025000	0.12405	0.3335:0.0:0.6665:0.0	5.816	0.17756	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	1259.83	35	chr3	195733202	.	G	A	1259.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=287;ExcessHet=0;FS=5.89;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.488;SOR=1.263	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	5	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	480.27	395	chr3	195778964	.	C	*	480.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=1742;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.73;MQRankSum=-3.027;QD=0.36;ReadPosRankSum=-3.167;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800:.	4	0	2	0
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	346.27	398	chr3	195778967	.	G	*	346.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.67;DP=1745;ExcessHet=1.383;FS=0.714;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-3.453;QD=0.26;ReadPosRankSum=-3.161;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:199,0:199:99:.:.:0,120,1800:.	4	0	2	0
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13344.4	105	chr3	195779882	.	G	*	13344.4	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1398;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=59.1;MQRankSum=-0.328;QD=11.75;ReadPosRankSum=-0.314;SOR=0.69	GT:AD:DP:GQ:PL	1/1:3,213:216:99:9286,593,0	3	3	0	0
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780043	.	G	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1384;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.39;QD=2.66;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:210,0:210:99:.:.:0,120,1800:.	4	0	2	0
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2290.01	261	chr3	195780046	.	A	*	2290.01	.	AC=2;AF=0.167;AN=12;DP=1380;ExcessHet=1.383;FS=0.585;MLEAC=2;MLEAF=0.167;MQ=57.21;QD=2.66;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:210,0:210:99:.:.:0,120,1800:.	4	0	2	0
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2293.45	261	chr3	195780069	.	G	*	2293.45	.	AC=1;AF=0.1;AN=10;DP=1299;ExcessHet=0.5115;FS=1.408;MLEAC=1;MLEAF=0.1;MQ=56.77;QD=4.11;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:210,0:210:99:.:.:0,120,1800:.	4	0	1	1
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2329.45	261	chr3	195780092	.	C	*	2329.45	.	AC=1;AF=0.1;AN=10;DP=1299;ExcessHet=0.5115;FS=0.647;MLEAC=1;MLEAF=0.1;MQ=56.55;QD=4.26;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:210,0:210:99:.:.:0,120,1800:.	4	0	1	1
chr3	195780095	195780095	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G11485A:p.D3829N,MUC4:NM_001322468:exon15:c.G10045A:p.D3349N	.	511	588	3	0	420	423	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	0.0155751	0.0002	0	0	0	0	0.0003	0	0.0003	0.0005369	83	154602	rs1173910146	0.0020	0.0033	0.0020	0.0020	0.0394	0.0019	0.0019	0.0350	0.0333	0.0018	0.0018	0.0118	0.0394	0.0032	0.0022	0.0014	0.0036	0.0022	0.0010	0.0055	0.0009	0.0011	0.0039	0.0007	0.0007	0.0015	0.0010	0.0013	0	0.0009	0	0.0012	0.0021	0	0.0006	0.0024	0.0039	0.026	0.47320	D	0.21	0.26883	T	.	.	.	.	.	.	.	.	.	.	0.990967	0.41276	D	.	.	.	1.51	0.31987	T	-0.12	0.11547	N	0.068	0.04072	-1.0144	0.25529	T	0.031	0.13418	T	7	0.004147202	0.00082	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	5.697214667815245E-4	0.00051	.	.	0.524782061577	0.42300	T	.	.	.	-0.351734	0.04618	T	-0.743018	0.03765	T	0.00236744835235249	0.00024	T	0.709529	0.32034	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.;.	.;.	1.461153	0.18836	13.95	0.86985028898371375	0.16908	0.00129	0.00800	N	AEFBI	0.039885	0.05856	N	-1.24603621511788	0.04352	0.1962529	-1.36546139236397	0.03627	0.1695683	2.2643471635804E-5	0.03498	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	1.135000	0.31067	-3.711000	0.02588	0.084000	0.17577	0.016000	0.19238	0.000000	0.08366	0.005000	0.06747	2.0E-4:0.5013:0.4982:2.0E-4	3.599	0.07562	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.136743	0.246154	0.141026	0.145833	0.000000	0.083333	0.122093	0.072581	0.1	716.96	261	chr3	195780095	.	C	T	716.96	.	AC=1;AF=0.1;AN=10;DP=1308;ExcessHet=0.5115;FS=0.66;MLEAC=1;MLEAF=0.1;MQ=56.28;QD=1.45;SOR=0.78	GT:AD:DP:GQ:PL	0/0:210,0:210:99:0,120,1800	4	0	1	1
chr3	195780095	195780095	C	0	exonic	MUC4	.	.	.	.	511	588	3	0	420	423	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	716.96	261	chr3	195780095	.	C	*	716.96	.	AC=1;AF=0.1;AN=10;DP=1308;ExcessHet=0.5115;FS=0.66;MLEAC=1;MLEAF=0.1;MQ=56.28;QD=1.45;SOR=0.78	GT:AD:DP:GQ:PL	0/0:210,0:210:99:0,120,1800	4	0	1	1
chr3	195780254	195780254	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11326T:p.P3776S,MUC4:NM_001322468:exon15:c.C9886T:p.P3296S	.	410	1102	9	0	1	10	0.00406688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00199681	0.0159	0.0120	0.0148	0.0028	0	0.0163	0.008	0.0218	6.47e-05	10	154602	rs578036922	0.0001	0.0015	9.385e-05	0.0001	0.0006	9.611e-05	9.058e-05	0.0004	0.0004	6.533e-05	8.679e-05	8.169e-05	0.0006	0.0002	0.0005	9.101e-05	8.828e-05	9.01e-05	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	9.747e-05	0.0003	0	0.0003	0	0	0.0002	0	0.0002	0.0021	0.0002	0.374	0.11478	T	0.781	0.04316	T	.	.	.	.	.	.	0.682961	0.10243	U	0.517672	1	0.18878	N	.	.	.	1.66	0.31205	T	-0.3	0.14390	N	0.029	0.01658	-1.0257	0.21853	T	0.033	0.14247	T	8	0.004255682	0.00085	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.0013621205608347429	0.00126	.	.	0.456905126572	0.32887	T	.	.	.	-0.376206	0.03291	T	-0.778171	0.02509	T	0.00735284016896887	0.00084	T	0.643636	0.25529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05103	B	.;.	.;.	0.211663	0.05949	2.391	0.94469296694473404	0.24916	0.00891	0.03504	N	AEFBCI	0.063293	0.12223	N	-1.86699940324581	0.00401	0.01724251	-1.97499171260156	0.00346	0.01526553	1.6836304562597E-4	0.05721	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.343000	0.02749	-5.503000	0.01695	-1.353000	0.01189	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3343:0.0:0.6657:0.0	4.606	0.11768	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	234.06	492	chr3	195780254	.	G	A	234.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.24;DP=1444;ExcessHet=0.4139;FS=51.531;MLEAC=2;MLEAF=0.167;MQ=56.89;MQRankSum=-4.767;QD=1.23;ReadPosRankSum=-1.876;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,11:104:99:0|1:195780165_C_G:199,0,3217:195780165	4	0	2	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9665.98	365	chr3	195780499	.	G	*	9665.98	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.097;DP=1387;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=-4.063;QD=9.77;ReadPosRankSum=-4.391;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0:181:99:.:.:0,120,1800:.	5	0	1	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9371.98	360	chr3	195780501	.	C	*	9371.98	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=1373;ExcessHet=1.383;FS=1.158;MLEAC=1;MLEAF=0.083;MQ=53.83;MQRankSum=-4.944;QD=9.61;ReadPosRankSum=-3.137;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:181,0:181:99:.:.:0,120,1800:.	5	0	1	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22851.7	348	chr3	195781628	.	C	*	22851.7	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.53;DP=1844;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.05;MQRankSum=-0.65;QD=14.91;ReadPosRankSum=0.437;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:326:99:.:.:10087,10754,12680:.	3	0	3	0
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001754	0.000000	0.015625	0.008929	0.000000	0.000000	0.000000	0.000000	0.1667	5272.04	162	chr3	195781996	.	G	A	5272.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.794;DP=697;ExcessHet=0;FS=23.052;MLEAC=2;MLEAF=0.167;MQ=38.9;MQRankSum=0.93;QD=29.95;ReadPosRankSum=2.1;SOR=2.271	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,170:176:99:1|1:195781925_C_G:5292,370,0:195781925	5	1	0	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1662.49	263	chr3	195782558	.	A	*	1662.49	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.37;DP=1656;ExcessHet=0.1336;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.11;MQRankSum=-5.684;QD=1.7;ReadPosRankSum=2.21;SOR=0.663	GT:AD:DP:GQ:PL	0/0:179,0:179:99:0,120,1800	3	0	3	0
chr3	195782948	195782948	-	GTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8631_8632insCAC:p.H2877_A2878insH,MUC4:NM_001322468:exon8:c.7959_7960insCAC:p.G2654_A4615delinsHGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	558	926	6	1	31	39	0.00430108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0007	0.0006	0.0005	0.0181	0.0005	0.0005	0.0165	0.0158	0.0181	0.0010	0	0.0001	0.0002	0.0018	0.0001	0.0015	0.0011	0.0025	0.0048	0.0028	0.0023	0.0106	0.0023	0.0022	0.0095	0.0091	0.0106	0	0.0009	0	0	0.0001	0	7.252e-05	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6003.71	349	chr3	195782948	.	C	CGTG	6003.71	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.746;DP=1985;ExcessHet=0;FS=1.775;MLEAC=2;MLEAF=0.2;MQ=53.59;MQRankSum=8.45;QD=19.18;ReadPosRankSum=2.45;SOR=0.798	GT:AD:DP:GQ:PL	1/1:59,254:313:99:6022,555,0	4	1	0	1
chr3	195782949	195782949	-	CCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8630_8631insCGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGG:p.T2879_P2880insSLPVTDASSVSTGAT,MUC4:NM_001322468:exon8:c.7958_7959insCGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGG:p.G2654_A4615delinsATSLPVTDASSVSTGGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	868	195	206	239	14	698	0.636872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.346e-05	7.283e-05	3.13e-05	7.675e-05	0.0010	4.226e-05	3.802e-05	0.0007	0.0006	0	0	0	0	0	0.0010	9.924e-06	6.727e-05	0.0009	0	8.224e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	35837.8	300	chr3	195782949	.	A	ACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCG	35837.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.77;DP=2072;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=55.26;MQRankSum=1.67;QD=28.6;ReadPosRankSum=1.98;SOR=0.676	GT:AD:DP:GQ:PL	1/1:2,254:311:99:9491,938,0	4	1	0	1
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	465	chr3	195783068	.	G	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.73;DP=1594;ExcessHet=0.2119;FS=5.987;MLEAC=2;MLEAF=0.25;MQ=44.17;MQRankSum=-0.606;QD=5.33;ReadPosRankSum=1.57;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:109:99:1|1:195783068_G_T:4735,4737,4744:195783068	2	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4719.08	342	chr3	195783070	.	A	*	4719.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.428;DP=1389;ExcessHet=0.2119;FS=4.902;MLEAC=2;MLEAF=0.25;MQ=53.48;MQRankSum=-0.606;QD=6.03;ReadPosRankSum=-0.244;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:109:99:1|1:195783068_G_T:4735,4737,4744:195783068	2	0	2	2
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	11118.2	339	chr3	195783084	.	A	*	11118.2	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.568;DP=1362;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.54;MQRankSum=-0.512;QD=12.41;ReadPosRankSum=0.151;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800:.	5	0	1	0
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	11301.4	336	chr3	195783093	.	A	*	11301.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.787;DP=1416;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.1;MQ=56.8;MQRankSum=-1.666;QD=12.68;ReadPosRankSum=0.769;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,120,1800:.	4	0	1	1
chr3	195783115	195783115	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8465T:p.A2822V	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00808758064807	.	.	9.747e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779130828	0.0006	0.0075	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0001	0.0003	0.0008	0.0014	0.0011	0.0007	0.0006	0.0009	0.0001	0.0005	0.0090	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0009	0.0006	0	0.024	0.47745	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.54	0.30133	T	-0.32	0.12283	N	0.091	0.06990	-1.0429	0.16443	T	0.034	0.14509	T	7	0.057775825	0.06688	T	0.008088	0.21444	T	0.055	0.15663	0.112	0.02175	0.0138822411134	0.00435	4.332367442156766E-5	0.00003	.	.	0.49801659584	0.38551	T	.	.	.	-0.322191	0.06720	T	-0.700582	0.05794	T	0.0232126214171904	0.01049	T	0.561544	0.19673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.;.	.;.	1.043626	0.14243	10.82	0.97275147961025843	0.33153	0.04537	0.10171	N	AEFBI	0.111671	0.22101	N	-0.87767777179361	0.11376	0.5485977	-1.04387443529792	0.08835	0.4363716	0.00134275207830979	0.08462	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.054000	0.14087	0.088000	0.14478	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1011.08	299	chr3	195783115	.	G	A	1011.08	.	AC=2;AF=0.25;AN=8;DP=1177;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=39.23;QD=28.44;SOR=4.892	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,23:23:69:1|1:195783068_G_T:1027,69,0:195783068	3	1	0	2
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002044	0.012346	0.000000	0.005051	0.000000	0.000000	0.003759	0.000000	0.25	659.08	299	chr3	195783119	.	C	T	659.08	.	AC=2;AF=0.25;AN=8;DP=1168;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=37.7;QD=28.71;SOR=5.549	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:45:1|1:195783068_G_T:675,45,0:195783068	3	1	0	2
chr3	195783262	195783262	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8318G:p.N2773S	.	435	1048	24	4	11	43	0.0150376	.	.	.	2825231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000934584827122	.	.	0.0062	0.0032	0.0036	0	0	0.0079	0.0038	0.0074	0.0003458	9	26028	rs200430309	0.0004	0.0018	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0022	0.0030	0.0019	0.0005	0.0001	0.0002	0.0011	0.0002	0.0006	0.0020	0.0023	0.0063	0.0020	0.0026	0.0081	0.0020	0.0019	0.0065	0.0061	0.0076	0	0.0025	0	0.0003	0.0007	0.0068	0.0006	0.0008	0.0081	0.026	0.46910	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.32722	T	0.18	0.05310	N	0.02	0.00770	-0.9888	0.32903	T	0.026	0.10954	T	8	0.00425151	0.00085	T	9.35E-4	0.00911	T	0.009	0.00846	.	.	0.0138822411134	0.00435	6.802891024874262E-6	0.00000	.	.	0.536698877811	0.43980	T	.	.	.	-0.429523	0.01492	T	-0.854757	0.00902	T	0.00071340223075822	0.00006	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.;.	.;.	-0.268405	0.02760	0.371	0.26748890116254831	0.01296	0.00041	0.00340	N	AEFBI	0.037893	0.05280	N	-1.53609845538159	0.01617	0.07070451	-1.620494646848	0.01535	0.06955711	1.70211933778159E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	-2.470000	0.01067	-6.862000	0.01287	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4779:0.0:0.5221	4.376	0.10704	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.095606	0.152632	0.057377	0.178571	0.111111	0.052083	0.101307	0.056911	0.1	86.22	382	chr3	195783262	.	T	C	86.22	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.524;DP=1258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=32.81;MQRankSum=0.366;QD=14.37;ReadPosRankSum=1.47;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,4:8:86:0|1:195783250_A_*:137,0,86:195783250	4	0	1	1
chr3	195783275	195783275	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8305G:p.L2769V	.	423	1085	10	4	0	18	0.00822669	.	.	.	2825232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.000887605559782	.	.	0.0033	0.0013	0.0055	0	0	0.0059	0	0.0017	3.84e-05	1	26028	rs199750921	4.798e-05	0.0002	3.643e-05	5.984e-05	0.0002	3.858e-05	3.515e-05	6.546e-05	4.254e-05	0.0002	2.853e-05	4.077e-05	0	0.0001	0	4.217e-05	0.0001	2.565e-05	8.414e-05	0.0004	8.221e-05	8.617e-05	0.0003	4.778e-05	3.734e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.583e-05	0	0	0.489	0.13522	T	0.173	0.30241	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.12	0.38718	T	-0.03	0.07444	N	0.051	0.06322	-1.0314	0.20002	T	0.048	0.20553	T	8	0.005651593	0.00125	T	8.88E-4	0.00822	T	0.004	0.00165	.	.	0.0138822411134	0.00435	3.5804689604601376E-7	0.00000	.	.	0.529638767242	0.42983	T	.	.	.	-0.373846	0.03404	T	-0.774781	0.02614	T	0.00269115063262578	0.00028	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26482	B	.;.	.;.	0.659962	0.10282	7.017	0.67273669227981714	0.08305	0.00125	0.00780	N	AEFBI	0.057650	0.10756	N	-1.29840298865143	0.03696	0.165531	-1.42207790409781	0.03032	0.1406671	1.93335604505655E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-3.112000	0.00660	-7.108000	0.01229	0.221000	0.18078	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4545:0.0:0.2536:0.2919	1.664	0.02629	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.041367	0.054348	0.019608	0.095455	0.000000	0.031250	0.042484	0.033613	0.1	99.7	66	chr3	195783275	.	G	C	99.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.046;DP=979;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.1;MQ=34.28;MQRankSum=-0.574;QD=8.31;ReadPosRankSum=0.179;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,4:12:99:0|1:195783250_A_*:109,0,323:195783250	4	0	1	1
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	100.2	45	chr3	195783346	.	A	*	100.2	.	AC=2;AF=0.5;AN=4;BaseQRankSum=1.65;DP=657;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=36.63;MQRankSum=-1.282;QD=0.73;ReadPosRankSum=1.65;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0:5:34:0|1:195783346_A_G:105,117,255:195783346	1	1	0	4
chr3	195783356	195783358	TCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8222_8224del:p.E2741_T2742delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	5.516e-05	0	0	0	0.0002	0.0001	6.573e-05	0	2.546e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.65	27	chr3	195783355	.	GTCT	G	103.65	.	AC=2;AF=0.2;AN=10;DP=563;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=32.59;QD=0.77;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195783346_A_G:120,9,0:195783346	4	1	0	1
chr3	195783355	195783358	GTCT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.65	27	chr3	195783355	.	GTCT	*	103.65	.	AC=2;AF=0.2;AN=10;DP=563;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.59;QD=0.77;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:3:9:1|1:195783346_A_G:120,120,120:195783346	4	1	0	1
chr3	195783391	195783391	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8189A:p.S2730Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000404150148124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.339e-06	1.705e-05	4.449e-06	2.227e-06	4.016e-05	8.9e-07	2.5e-07	.	.	0	4.016e-05	5.59e-05	0	2.721e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.97	0.27876	N	0.123	0.11483	-1.0081	0.27510	T	0.048	0.20355	T	6	0.09094933	0.15889	T	4.04E-4	0.00071	T	0.012	0.01476	0.236	0.16608	0.101711395817	0.09552	1.2862146188729878E-5	0.00001	.	.	0.531352460384	0.43226	T	.	.	.	-0.276882	0.11002	T	-0.635498	0.10000	T	0.106647939296188	0.13073	T	0.854315	0.54093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32613	B	.;.	.;.	1.415082	0.18313	13.67	0.28369215759524363	0.01453	0.00436	0.02133	N	AEFBI	0.056814	0.10532	N	-1.01787318366989	0.08233	0.3852902	-1.23581631101255	0.05344	0.2544087	1.82086757490705E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-1.233000	0.03043	0.258000	0.16510	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.0:0.6795:0.3205	5.544	0.16340	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	66.09	54	chr3	195783391	.	G	T	66.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.036;DP=439;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.1;MQ=48.24;MQRankSum=1.65;QD=13.22;ReadPosRankSum=-0.524;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	3	0	2	1
chr3	195783496	195783496	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8084A:p.S2695Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0888	0.0154	0.125	0.0433	0.1306	0.0761	0.0465	0.1018	0.0001153	3	26028	rs769072565	0.0030	0.0079	0.0029	0.0031	0.0047	0.0029	0.0029	0.0043	0.0041	0.0010	0.0017	0.0052	0.0023	0.0052	0.0046	0.0029	0.0031	0.0047	0.0007	0.0028	0.0013	0	0.0016	0	0	.	.	0	0	0	0	0	0	0	0.0016	0	0	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.46	0.32722	T	-0.05	0.10480	N	0.043	0.01577	-1.0116	0.26416	T	0.041	0.17530	T	6	0.0036363006	0.00066	T	.	.	.	0.013	0.01715	.	.	.	.	1.467579142754757E-4	0.00012	.	.	0.542433857918	0.44789	T	.	.	.	-0.263888	0.12448	T	-0.616834	0.11435	T	0.0421908303122861	0.04090	T	0.684832	0.29327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	1.371228	0.17813	13.38	0.30667092946257996	0.01689	0.00838	0.03362	N	AEFBI	0.089729	0.18187	N	-0.82776420852381	0.12603	0.6153997	-1.00259515949732	0.09728	0.4856676	1.73116509190477E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	0.001000	0.12940	-0.141000	0.11517	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.303:0.0:0.697:0.0	3.506	0.07252	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	299.33	31	chr3	195783496	.	G	T	299.33	.	AC=2;AF=0.2;AN=10;DP=138;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=47.23;QD=27.17;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	1
chr3	195783505	195783552	GTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8028_8075del:p.S2677_T2692del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0356	0.0109	0.0256	0.0169	0.0512	0.0303	0.0224	0.0416	.	.	.	rs773062405	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	5.456e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0003	0.0002	0.0007	0.0014	0.0014	0	0.0015	0	0	.	.	0	0	0	0	0	0	0	0.0015	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	156.75	29	chr3	195783504	.	GGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	G	156.75	.	AC=1;AF=0.125;AN=8;DP=113;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=47.92;MQRankSum=1.28;QD=31.35;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	3	0	1	2
chr3	195783922	195783922	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7658T:p.A2553V,MUC4:NM_001322468:exon7:c.C7610T:p.A2537V	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00559105	0.0090	0.0143	0.0041	0.0089	0.0316	0.0086	0.0077	0.0032	0.001921	50	26028	rs77250903	0.0005	0.0079	0.0005	0.0005	0.0039	0.0005	0.0004	0.0033	0.0031	0.0025	0.0039	0.0021	0.0003	0.0001	0.0013	0.0003	0.0009	0.0007	0.0018	0.0065	0.0018	0.0019	0.0058	0.0016	0.0016	0.0038	0.0032	0.0034	0	0.0031	0.0039	0.0012	0.0010	0	0.0007	0.0018	0.0058	0.153	0.24372	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32238	T	-0.08	0.08187	N	0.025	0.00485	-1.0223	0.22965	T	0.034	0.14813	T	7	0.0051268935	0.00111	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	4.3488926835127365E-5	0.00003	.	.	0.530101358891	0.43049	T	.	.	.	-0.330876	0.06046	T	-0.713057	0.05139	T	0.00173571957388458	0.00018	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17995	B	.;.	.;.	0.358364	0.07314	3.923	0.98509519110939203	0.42325	0.01809	0.05637	N	AEFBCI	0.064050	0.12414	N	-1.10673507771033	0.06522	0.3004745	-1.2387446223004	0.05300	0.2521837	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.288000	0.18695	-3.139000	0.03028	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006807	0.005376	0.001608	0.009524	0.000000	0.000000	0.003497	0.004630	0.08333	1402.04	388	chr3	195783922	.	G	A	1402.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.259;DP=1718;ExcessHet=0;FS=7.096;MLEAC=1;MLEAF=0.083;MQ=56.45;MQRankSum=-3.956;QD=5.79;ReadPosRankSum=4.53;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800:.	5	0	1	0
chr3	195783932	195783932	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7648A:p.P2550T,MUC4:NM_001322468:exon7:c.C7600A:p.P2534T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	.	0.0027	0.0017	0.0020	0.0029	0.0143	0.0015	0.0038	0.0019	.	.	.	rs774907241	6.836e-05	0.0021	7.191e-05	6.473e-05	0.0006	5.679e-05	5.263e-05	0.0004	0.0003	0.0004	0.0006	8.243e-05	0	4.159e-05	0	4.985e-05	5.402e-05	5.259e-05	0.0007	0.0032	0.0005	0.0008	0.0037	0.0005	0.0005	0.0021	0.0017	0.0009	0	0.0012	0.0003	0	0.0006	0.0053	0.0003	0.0012	0.0037	0.662	0.12754	T	0.699	0.05805	T	.	.	.	.	.	.	.	.	.	.	0.648787	0.32944	D	.	.	.	1.57	0.29602	T	-0.13	0.10656	N	0.059	0.03069	-1.0232	0.22671	T	0.063	0.26208	T	7	0.008828789	0.00200	T	.	.	.	0.087	0.25287	0.164	0.06842	0.0297737177859	0.01360	2.713995472028784E-4	0.00024	.	.	0.547602772713	0.45519	T	.	.	.	-0.387108	0.02808	T	-0.793831	0.02061	T	0.0174871850758791	0.00484	T	0.60154	0.22486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01143	B	.;.	.;.	0.038606	0.04554	1.242	0.93074862299312688	0.22692	0.09977	0.15607	N	AEFBCI	0.070230	0.13934	N	-0.604068092020613	0.18821	0.9802367	-0.826293529166589	0.13859	0.7211866	1.18646128231017E-4	0.05269	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.961000	0.00737	-4.893000	0.01938	-1.552000	0.00961	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1385.04	388	chr3	195783932	.	G	T	1385.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.863;DP=1736;ExcessHet=0;FS=7.184;MLEAC=1;MLEAF=0.083;MQ=56.86;MQRankSum=-4.542;QD=5.45;ReadPosRankSum=4.69;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800:.	5	0	1	0
chr3	195783934	195783934	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7646A:p.S2549N,MUC4:NM_001322468:exon7:c.G7598A:p.S2533N	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000998403	0.0021	0.0004	0	0.0029	0.0105	0.0014	0.0038	0.0015	0.0003622	56	154602	rs542050094	3.846e-05	0.0014	3.797e-05	3.896e-05	0.0005	2.986e-05	2.704e-05	0.0003	0.0003	0.0002	0.0005	8.252e-05	0	4.157e-05	0	2.194e-05	0	2.61e-05	0.0004	0.0027	0.0003	0.0006	0.0038	0.0003	0.0003	0.0022	0.0017	0.0006	0	0.0007	0.0003	0	0.0007	0	0.0002	0.0006	0.0038	0.033	0.44358	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32238	T	-0.35	0.15379	N	0.067	0.05929	-0.9999	0.29945	T	0.029	0.12322	T	7	0.00383538	0.00072	T	.	.	.	0.026	0.05648	0.162	0.06618	0.0138822411134	0.00435	6.537110059732413E-5	0.00005	.	.	0.591621160507	0.51723	T	.	.	.	-0.382425	0.03007	T	-0.787104	0.02246	T	0.02508775530953	0.01283	T	0.725927	0.34027	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34470	B	.;.	.;.	0.005022	0.04317	1.092	0.8206261003257137	0.13999	0.00438	0.02140	N	AEFBCI	0.044554	0.07182	N	-1.28928029391541	0.03803	0.1705611	-1.37713091909614	0.03497	0.1632428	1.17037004085678E-5	0.02871	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.076000	0.11374	-3.561000	0.02694	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6241:0.3759:0.0:0.0	3.864	0.08514	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1374.04	388	chr3	195783934	.	C	T	1374.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.571;DP=1734;ExcessHet=0;FS=7.194;MLEAC=1;MLEAF=0.083;MQ=57.16;MQRankSum=-4.958;QD=5.5;ReadPosRankSum=4.67;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800:.	5	0	1	0
chr3	195783935	195783935	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A7645G:p.S2549G,MUC4:NM_001322468:exon7:c.A7597G:p.S2533G	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0021	0.0004	0	0.0029	0.0105	0.0013	0.0038	0.0015	0.0003299	51	154602	rs763665429	3.827e-05	0.0014	3.778e-05	3.877e-05	0.0005	2.972e-05	2.691e-05	0.0003	0.0003	0.0003	0.0005	0	0	2.07e-05	0	1.899e-05	3.567e-05	6.49e-05	0.0004	0.0025	0.0004	0.0005	0.0035	0.0003	0.0003	0.0020	0.0016	0.0006	0	0.0006	0.0003	0	0.0006	0	0.0002	0.0006	0.0035	0.036	0.43393	D	0.111	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	-0.08	0.12283	N	0.035	0.03283	-1.0091	0.27198	T	0.035	0.15074	T	7	0.004244715	0.00085	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	1.0161646330475137E-4	0.00009	.	.	0.551500082016	0.46069	T	.	.	.	-0.368911	0.03650	T	-0.767692	0.02845	T	0.0180913273435993	0.00532	T	0.510149	0.16261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23430	B	.;.	.;.	0.132020	0.05276	1.773	0.45628252790985402	0.03595	0.00649	0.02827	N	AEFBCI	0.041663	0.06363	N	-1.2778630141568	0.03943	0.1770774	-1.36070039343077	0.03681	0.1722212	1.31068601865202E-5	0.02871	0.615465	0.37627	0	0.78372	0.99691	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.151000	0.10160	-0.279000	0.10284	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.334:0.0:0.666	3.749	0.08083	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1373.04	388	chr3	195783935	.	T	C	1373.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.178;DP=1734;ExcessHet=0;FS=7.126;MLEAC=1;MLEAF=0.083;MQ=57.25;MQRankSum=-5.065;QD=5.51;ReadPosRankSum=4.59;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,0:196:99:.:.:0,120,1800:.	5	0	1	0
chr3	195784007	195784007	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7573T:p.D2525Y,MUC4:NM_001322468:exon7:c.G7525T:p.D2509Y	.	415	1096	9	0	2	11	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00516102249211	.	.	0.0043	0.0034	0.0021	0	0	0.0068	0.0038	0.0028	0.0009056	140	154602	rs387559	0.0044	0.0050	0.0044	0.0044	0.0050	0.0043	0.0043	0.0049	0.0049	0.0010	0.0021	0.0055	0	0.0006	0.0048	0.0050	0.0040	0.0019	0.0061	0.0060	0.0062	0.0059	0.0097	0.0056	0.0054	0.0088	0.0085	0.0019	0.0117	0.0049	0.0129	0	0.0003	0.0071	0.0097	0.0038	0.0050	0.015	0.52492	D	0.035	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.34452	T	-0.22	0.11008	N	0.138	0.13911	-1.0218	0.23129	T	0.041	0.17657	T	7	0.005071461	0.00110	T	0.005161	0.13125	T	0.012	0.01476	.	.	0.0884992946249	0.08302	4.3880024213885317E-4	0.00039	.	.	0.5548787117	0.46545	T	.	.	.	-0.308393	0.07891	T	-0.680762	0.06937	T	0.00367973852416161	0.00039	T	0.877812	0.59215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.44345	B	.;.	.;.	1.960027	0.24899	16.57	0.78850073219890093	0.12480	0.00207	0.01180	N	AEFBCI	0.032984	0.03829	N	-1.44003932090389	0.02296	0.1012303	-1.56808164265488	0.01854	0.08450574	3.31428487897563E-5	0.03775	0.554377	0.28877	0	0.657636	0.61667	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.793000	0.01851	-5.710000	0.01622	0.055000	0.17525	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.2464:0.2841:0.4695:0.0	2.999	0.05642	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004648	0.017647	0.003663	0.000000	0.000000	0.000000	0.007194	0.000000	0.08333	2993.83	613	chr3	195784007	.	C	A	2993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=1992;ExcessHet=0;FS=2.623;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=0.456;QD=6.58;ReadPosRankSum=1;SOR=0.919	GT:AD:DP:GQ:PL	0/0:196,0:196:99:0,120,1800	5	0	1	0
chr3	195784041	195784041	-	GGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7538_7539insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.P2514Hfs*25,MUC4:NM_001322468:exon7:c.7490_7491insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.A2498Hfs*50	.	420	1073	7	0	22	29	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256446582	5.133e-05	0.0009	5.072e-05	5.194e-05	0.0001	4.02e-05	3.601e-05	3.966e-05	3.524e-05	4.372e-05	0	0.0002	0.0001	0	0	5.265e-05	9.338e-05	0	0.0003	0.0024	0.0002	0.0003	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1395.65	659	chr3	195784041	.	T	TGGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	1395.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.63;DP=2146;ExcessHet=0;FS=2.661;MLEAC=1;MLEAF=0.1;MQ=58.75;MQRankSum=-8.725;QD=2.81;ReadPosRankSum=-10.36;SOR=0.975	GT:AD:DP:GQ:PL	0/0:196,0:196:99:0,120,1800	4	0	1	1
chr3	195784081	195784081	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7499G:p.T2500S,MUC4:NM_001322468:exon7:c.C7451G:p.T2484S	.	411	1104	4	1	2	8	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00754800449239	.	0.000399361	0.0002	0.0004	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs531196753	0.0001	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	9.878e-05	7.114e-05	2.844e-05	0.0027	0	0	0.0007	8.034e-05	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	9.552e-05	7.961e-05	6.812e-05	5.094e-05	0	0	6.609e-05	0.0032	0	0	0	0.0001	0	0	0.198	0.33091	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.3	0.35590	T	-0.25	0.11008	N	0.049	0.02088	-1.0199	0.23747	T	0.045	0.19397	T	7	0.0077854693	0.00177	T	0.007548	0.20033	T	0.019	0.03383	0.121	0.02793	0.0138822411134	0.00435	1.184308963844507E-5	0.00001	.	.	0.513383388519	0.40695	T	.	.	.	-0.277227	0.10964	T	-0.635994	0.09963	T	0.014570536452003	0.00299	T	0.763224	0.38939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	0.596820	0.09652	6.425	0.60475253937085882	0.06472	0.12666	0.17407	N	AEFBHCI	0.128785	0.24669	N	-1.00858928855411	0.08424	0.394969	-1.07191762672318	0.08257	0.4051598	1.61870465292538E-5	0.02871	0.615465	0.37627	0	0.657636	0.61667	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.641000	0.00937	-3.867000	0.02485	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.6087:0.3913	4.270	0.10228	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3273.83	668	chr3	195784081	.	G	C	3273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=2146;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.07;MQRankSum=3.38;QD=6.53;ReadPosRankSum=-1.433;SOR=0.73	GT:AD:DP:GQ:PL	0/0:196,0:196:99:0,120,1800	5	0	1	0
chr3	195784460	195784460	A	0	exonic	MUC4	.	.	.	.	1145	92	157	109	19	394	0.670841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	51972.0	904	chr3	195784460	.	A	*	51972.0	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.14;DP=4666;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=-0.672;QD=24.69;ReadPosRankSum=0.496;SOR=0.702	GT:AD:DP:GQ:PL	1/0:0,188:1122:99:32842,28418,40292	1	0	2	3
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1203.96	297	chr3	195784575	.	C	*	1203.96	.	AC=3;AF=0.5;AN=6;BaseQRankSum=2.29;DP=2979;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=54.6;MQRankSum=4.3;QD=1.15;ReadPosRankSum=1.87;SOR=0.557	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,500:574:99:.:.:35241,3917,1204:.	1	1	1	3
chr3	195784594	195784594	G	0	exonic	MUC4	.	.	.	.	11	191	8	0	16	24	0.0205128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1290.83	246	chr3	195784594	.	G	*	1290.83	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.14;DP=2647;ExcessHet=0;FS=3.189;MLEAC=3;MLEAF=0.3;MQ=54.27;MQRankSum=4.3;QD=1.23;ReadPosRankSum=2.66;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:7,498:574:99:0|1:195784594_G_A:25892,3083,1292:195784594	3	1	1	1
chr3	195784627	195784632	GCGTGA	0	exonic	MUC4	.	.	.	.	446	999	5	0	72	77	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	594.24	132	chr3	195784627	.	GCGTGA	*	594.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.297;DP=2748;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=54.84;MQRankSum=3.08;QD=0.51;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:5,635:703:99:0|1:195784594_G_A:35954,3330,596:195784594	4	1	1	0
chr3	195784628	195784632	CGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6948_6952del:p.A2318Pfs*14,MUC4:NM_001322468:exon7:c.6900_6904del:p.T2301Hfs*104	.	446	999	5	0	72	77	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.987e-05	0	0	0	0	0.0002	0	0	.	.	.	rs780998555	5.19e-05	0.0004	4.492e-05	5.91e-05	0.0003	4.186e-05	3.818e-05	7.338e-05	4.747e-05	0.0002	0	8.758e-05	3.147e-05	0.0002	0.0003	4.37e-05	9.647e-05	2.706e-05	0.0018	0.0077	0.0018	0.0017	0.0031	0.0016	0.0015	0.0026	0.0024	0.0031	0.0012	0.0013	0.0007	0.0002	0.0016	0	0.0015	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	594.24	132	chr3	195784627	.	GCGTGA	G	594.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.297;DP=2748;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.84;MQRankSum=3.08;QD=0.51;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,63:703:99:0|1:195784594_G_A:35954,22897,26012:195784594	5	0	1	0
chr3	195784637	195784680	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	180.24	132	chr3	195784637	.	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	*	180.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.771;DP=3078;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.24;MQRankSum=3.68;QD=0.16;ReadPosRankSum=2.39;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:5,635:689:99:0|1:195784594_G_A:35356,2891,182:195784594	4	1	1	0
chr3	195784638	195784680	GGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6900_6942del:p.H2301Qfs*689,MUC4:NM_001322468:exon7:c.6852_6894del:p.T2285Lfs*10	.	449	999	63	9	2	83	0.038961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.813e-05	0.0002	1.397e-05	2.241e-05	0.0002	1.207e-05	1.008e-05	7.406e-05	4.792e-05	0.0002	0	8.773e-05	0	0	0	1.324e-05	1.935e-05	2.707e-05	0.0009	0.0054	0.0008	0.0010	0.0024	0.0007	0.0007	0.0019	0.0017	0.0024	0	0.0008	0.0003	0	0.0005	0	0.0004	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	180.24	132	chr3	195784637	.	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	T	180.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.771;DP=3078;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.24;MQRankSum=3.68;QD=0.16;ReadPosRankSum=2.39;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,49:689:99:0|1:195784594_G_A:35356,22882,26098:195784594	5	0	1	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13571.1	172	chr3	195784652	.	C	*	13571.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.14;DP=3111;ExcessHet=0.7136;FS=0.688;MLEAC=4;MLEAF=0.333;MQ=54.14;MQRankSum=-7.864;QD=7.75;ReadPosRankSum=0.365;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13679.1	178	chr3	195784654	.	T	*	13679.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.01;DP=3119;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.731;QD=7.75;ReadPosRankSum=0.533;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13674.1	178	chr3	195784655	.	C	*	13674.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.27;DP=3122;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.66;QD=7.76;ReadPosRankSum=0.557;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22741.6	333	chr3	195784719	.	A	*	22741.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.327;DP=4540;ExcessHet=0.1336;FS=0.804;MLEAC=4;MLEAF=0.333;MQ=57.2;MQRankSum=-4.212;QD=8.93;ReadPosRankSum=-1.853;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,633:651:99:1|1:195784699_GGGC_*:36611,3436,0:195784699	4	2	0	0
chr3	195785084	195785087	TGTC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6493_6496del:p.D2165Lfs*838,MUC4:NM_001322468:exon6:c.6493_6496del:p.G2165Tfs*143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431679999	3.593e-06	1.437e-05	4.252e-06	2.915e-06	1.282e-05	1.05e-06	7.7e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.721e-06	0	1.282e-05	2.008e-05	3.316e-05	1.308e-05	2.743e-05	2.968e-05	5.34e-06	2.48e-06	4.93e-06	1.84e-06	2.469e-05	0	0	0	0	0	0	2.968e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	298.79	636	chr3	195785083	.	GTGTC	G	298.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.47;DP=3633;ExcessHet=0;FS=14.973;MLEAC=1;MLEAF=0.083;MQ=54.93;MQRankSum=-3.633;QD=0.34;ReadPosRankSum=-5.958;SOR=2.557	GT:AD:DP:GQ:PL	0/1:806,69:876:99:309,0,33244	5	0	1	0
chr3	195785437	195785437	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6143A:p.P2048H,MUC4:NM_001322468:exon6:c.C6143A:p.P2048H	.	447	1069	0	2	4	8	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00201068428208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781754499	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.429e-05	0	8.323e-05	0	0.0023	0	0.0001	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.519e-05	0	0	0	0	0.0010	0	0.0003	0	0.0002	0.0	0.91255	D	0.107	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.2	0.10136	N	0.107	0.09207	-1.0058	0.28216	T	0.030	0.12848	T	6	0.055903792	0.06182	T	0.002011	0.03642	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2924115843814766E-4	0.00011	.	.	0.52127122879	0.41805	T	.	.	.	-0.277298	0.10956	T	-0.636096	0.09957	T	0.0474089427526406	0.05038	T	0.548745	0.18852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25785	B	.;.	.;.	1.440292	0.18595	13.82	0.88505193980125174	0.18029	0.01029	0.03860	N	AEFBCI	0.051259	0.09038	N	-1.24720308106973	0.04336	0.1955305	-1.35179852953206	0.03785	0.1772574	1.17531293679699E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.408000	0.34277	1.170000	0.24618	0.061000	0.17545	0.007000	0.17678	0.001000	0.17328	0.023000	0.12082	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	2134.7	790	chr3	195785437	.	G	T	2134.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.054;DP=2538;ExcessHet=0;FS=0.531;MLEAC=1;MLEAF=0.1;MQ=55.27;MQRankSum=-1.512;QD=8.86;ReadPosRankSum=-4.089;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:226,0:226:99:.:.:0,120,1800:.	4	0	1	1
chr3	195785443	195785443	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6137C:p.D2046A,MUC4:NM_001322468:exon6:c.A6137C:p.D2046A	.	450	1058	12	1	1	15	0.00657277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.003604254882	.	.	0.0012	0.0017	0	0	0.0023	0.0012	0	0.0009	0.0002393	37	154602	rs202129397	0.0003	0.0008	0.0003	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	0.0006	0	0.0003	0.0002	0.0024	0.0003	0.0002	0.0004	0.0008	0.0015	0.0030	0.0015	0.0016	0.0023	0.0014	0.0013	0.0017	0.0015	0.0021	0	0.0006	0.0007	0.0018	0.0017	0.0081	0.0014	0.0013	0.0023	0.318	0.13654	T	0.091	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.53	0.30401	T	-0.2	0.10136	N	0.063	0.03502	-1.0198	0.23780	T	0.025	0.10509	T	6	0.007986397	0.00181	T	0.003604	0.08247	T	0.015	0.02232	.	.	0.0138822411134	0.00435	1.8720344249421197E-4	0.00016	.	.	0.493286401033	0.37895	T	.	.	.	-0.334697	0.05763	T	-0.718545	0.04867	T	0.00152941396766075	0.00015	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00229	B	.;.	.;.	0.397842	0.07692	4.366	0.94009402321113822	0.24110	0.00248	0.01370	N	AEFBCI	0.018914	0.00612	N	-2.0308230204244	0.00181	0.007772685	-2.11456447948871	0.00173	0.007623546	1.15454920013229E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.621000	0.05655	-5.708000	0.01623	-2.415000	0.00290	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006716	0.000000	0.007282	0.010101	0.000000	0.000000	0.003846	0.004854	0.2	5416.77	790	chr3	195785443	.	T	G	5416.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2592;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=55.98;MQRankSum=-0.043;QD=10.03;ReadPosRankSum=1.58;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:226,0:226:99:.:.:0,120,1800:.	3	0	2	1
chr3	195785445	195785445	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6135C:p.Q2045H,MUC4:NM_001322468:exon6:c.G6135C:p.Q2045H	.	476	1040	4	1	1	7	0.00287632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00230392183033	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs778025830	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.49e-05	0	8.501e-05	2.92e-05	0.0023	0	0.0001	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0011	0	0.0003	0	0.0002	0.166	0.23183	T	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.37578	T	-0.27	0.11366	N	0.053	0.04668	-1.0418	0.16770	T	0.028	0.11971	T	6	0.025753945	0.00760	T	0.002304	0.04424	T	0.019	0.03383	0.186	0.09517	0.0138822411134	0.00435	2.668964189333766E-4	0.00023	.	.	0.553018987179	0.46284	T	.	.	.	-0.329979	0.06113	T	-0.711769	0.05204	T	0.0250923404852311	0.01285	T	0.618838	0.23746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21503	B	.;.	.;.	-0.175811	0.03215	0.536	0.271917780216337	0.01338	0.00112	0.00708	N	AEFBCI	0.022193	0.01079	N	-1.97504517995062	0.00239	0.01025281	-2.07382485738277	0.00212	0.00935824	4.04866484404787E-4	0.06860	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-5.284000	0.00160	-3.091000	0.03069	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	2127.7	790	chr3	195785445	.	C	G	2127.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.838;DP=2528;ExcessHet=0;FS=5.149;MLEAC=1;MLEAF=0.1;MQ=56.18;MQRankSum=0.325;QD=8.94;ReadPosRankSum=-2.103;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:226,0:226:99:.:.:0,120,1800:.	4	0	1	1
chr3	195785726	195785726	-	GGTGGTGTGACCTAAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTTAGGTCACACCACC:p.T1951_P1952insSLPVTDASSVSTGHATSLPVTIPSSASLGHTT,MUC4:NM_001322468:exon6:c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTTAGGTCACACCACC:p.S1953_A4615delinsLPVTDASSVSTGHATSLPVTIPSSASLGHTTSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	5.821e-05	0	8.267e-06	5.417e-06	1.1e-06	3e-07	1.44e-06	4e-07	0	0	0	0	0	0	5.417e-06	0	0	1.642e-05	2.98e-05	0	3.324e-05	3.379e-05	0	0	.	.	0	0	0	0	0	0	0	3.379e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5872.71	812	chr3	195785726	.	G	GGGTGGTGTGACCTAAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA	5872.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.943;DP=2828;ExcessHet=0.4139;FS=2.423;MLEAC=1;MLEAF=0.1;MQ=57.61;MQRankSum=-9.117;QD=7.14;ReadPosRankSum=-2.468;SOR=0.836	GT:AD:DP:GQ:PL	0/0:226,0:226:99:0,120,1800	4	0	1	1
chr3	195785855	195785855	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G5725A:p.D1909N,MUC4:NM_001322468:exon6:c.G5725A:p.D1909N	.	408	1105	7	0	2	9	0.00315742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00134860183168	.	.	0.0041	0.0030	0.0019	0.0012	0	0.0063	0.0038	0.0029	0.0009444	146	154602	rs3103962	0.0022	0.0047	0.0022	0.0022	0.0042	0.0021	0.0021	0.0027	0.0023	0.0007	0.0012	0.0025	8.935e-05	0.0002	0.0042	0.0025	0.0021	0.0014	0.0019	0.0035	0.0020	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0008	0.0011	0.0015	0.0023	0.0004	0.0002	0.0036	0.0030	0.0019	0.0017	0.1	0.30515	T	0.36	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.36	0.34452	T	-0.33	0.12472	N	0.037	0.02366	-1.0345	0.19014	T	0.031	0.13461	T	8	0.0053756535	0.00118	T	0.001349	0.01936	T	0.055	0.15663	.	.	0.0138822411134	0.00435	3.717077622336155E-4	0.00034	.	.	0.584268033504	0.50686	T	.	.	.	-0.359028	0.04185	T	-0.753495	0.03352	T	0.00180360728884325	0.00018	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.	.;.	2.061221	0.26211	17.04	0.97409865315967703	0.33820	0.02871	0.07644	N	AEFDGBCI	0.055460	0.10173	N	-0.949747703426852	0.09699	0.4601384	-1.13421185370058	0.07055	0.3417515	5.15302862961625E-5	0.04171	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.13	-0.522	0.11332	0.646000	0.24486	-2.628000	0.03532	0.055000	0.17525	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.2848:0.4686:0.0:0.2466	2.296	0.03896	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003628	0.010417	0.001661	0.000000	0.000000	0.000000	0.006897	0.000000	0.08333	3016.83	569	chr3	195785855	.	C	T	3016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.71;DP=2510;ExcessHet=0;FS=2.947;MLEAC=1;MLEAF=0.083;MQ=58.87;MQRankSum=-0.939;QD=4.37;ReadPosRankSum=-0.471;SOR=0.807	GT:AD:DP:GQ:PL	0/0:226,0:226:99:0,120,1800	5	0	1	0
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del,MUC4:NM_001322468:exon4:c.3675_3722del:p.G1230_A4615delinsDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	155.31	19	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T	155.31	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=82;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.36;MQRankSum=-0.698;QD=4.44;ReadPosRankSum=0.328;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,623:.	5	0	1	0
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V,MUC4:NM_001322468:exon4:c.C3722T:p.A1241V	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025000	0.111111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	48.1	19	chr3	195787858	.	G	A	48.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=84;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.3;MQRankSum=0.712;QD=1.85;ReadPosRankSum=-0.524;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:12:.:.:0,12,597:.	5	0	1	0
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	48.1	19	chr3	195787858	.	G	*	48.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=84;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.3;MQRankSum=0.712;QD=1.85;ReadPosRankSum=-0.524;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:12:.:.:0,12,597:.	5	0	1	0
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	196.14	19	chr3	195787862	.	C	*	196.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=87;ExcessHet=1.383;FS=2.534;MLEAC=1;MLEAF=0.1;MQ=36.6;MQRankSum=1.07;QD=4.56;ReadPosRankSum=0.182;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,558:.	4	0	1	1
chr3	195787863	195787863	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46.06	19	chr3	195787863	.	G	*	46.06	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=85;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.87;MQRankSum=-0.253;QD=1.92;ReadPosRankSum=0;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,558:.	5	0	1	0
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	182.73	19	chr3	195787897	.	T	*	182.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.47;DP=113;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.23;MQRankSum=0.108;QD=4.15;ReadPosRankSum=-0.372;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:23:.:.:0,23,748:.	5	0	1	0
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1197.51	644	chr3	195788132	.	T	*	1197.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=1208;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.78;MQRankSum=-5.041;QD=1.23;ReadPosRankSum=0.621;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,117,1800:.	5	0	1	0
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	994.51	644	chr3	195788146	.	A	*	994.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.33;DP=1247;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.05;MQRankSum=-5.235;QD=0.98;ReadPosRankSum=-0.787;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,117,1800:.	5	0	1	0
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	580.51	644	chr3	195788160	.	G	*	580.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.31;DP=1282;ExcessHet=1.383;FS=0.816;MLEAC=1;MLEAF=0.083;MQ=54.19;MQRankSum=-5.47;QD=0.56;ReadPosRankSum=-2.095;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,117,1800:.	5	0	1	0
chr3	195789353	195789353	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T2227C:p.S743P,MUC4:NM_001322468:exon3:c.T2227C:p.S743P	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	.	0.00179712	0.0015	0.0001	0	0	0	7.492e-05	0	0.0110	0.001313	203	154602	rs534053468	0.0007	0.0007	0.0004	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	2.987e-05	2.236e-05	0	0	0	0.0017	3.238e-05	0.0008	0.0100	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	2.41e-05	0	6.549e-05	0	0	0	0	5.883e-05	0	0.0075	0.0	0.91255	D	0.027	0.55341	D	.	.	.	.	.	.	0.265519	0.15229	N	0.545868	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.5	0.15782	N	0.23	0.31027	-0.9827	0.34375	T	0.138	0.45602	T	10	0.005982816	0.00134	T	.	.	.	0.150	0.39571	.	.	0.0297737177859	0.01360	0.09026114370699667	0.08959	.	.	0.339925587177	0.16426	T	.	.	.	-0.542526	0.00324	T	-0.542682	0.18033	T	0.0230595954178542	0.01031	T	0.480052	0.14488	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.35098	B	.;.	.;.	1.404083	0.18184	13.60	0.2585694510281496	0.01212	0.11591	0.16734	N	AEFBHCI	0.131682	0.25070	N	-0.66818821947173	0.16933	0.8670253	-0.92146212721303	0.11588	0.5912703	1.56405620008898E-4	0.05650	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.77	-1.84	0.07387	0.131000	0.15696	-0.096000	0.11999	-0.369000	0.05453	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.391:0.3861:0.0:0.2229	4.098	0.09475	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1541.83	84	chr3	195789353	.	A	G	1541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.094;DP=333;ExcessHet=0;FS=1.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.574;SOR=0.466	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	5	0	1	0
chr3	196208401	196208401	C	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon4:c.G568T:p.D190Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0110432125776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	0.975948	0.39232	D	2.38	0.68558	M	1.8	0.25344	T	-3.19	0.64593	D	0.526	0.55540	-0.9005	0.47942	T	0.151	0.47926	T	10	0.59015614	0.66334	D	0.011043	0.28250	T	0.240	0.54500	0.518	0.61915	0.219573609325	0.21563	0.6869458552945757	0.68634	1.0919349002	0.77461	0.471491217613	0.34886	T	0.007771	0.07155	T	0.131248	0.67482	D	-0.0492476	0.67073	D	0.960637986660004	0.65859	D	0.747125	0.36767	T	0.30726245	0.53548	0.45081574	0.68043	0.30726245	0.53548	0.45081574	0.68043	-6.231	0.48173	T	.	.	0.380	0.58440	A	.	.	4.175582	0.62817	24.5	0.98476963584122745	0.41931	0.75778	0.37120	D	ALL	0.190405	0.31764	N	0.476697325609573	0.65732	4.859636	0.388339731591329	0.60845	4.276857	0.999999999998731	0.74766	0.59774	0.34471	0	0.478664	0.06816	1	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.08	5.08	0.68373	1.653000	0.36940	3.933000	0.40549	0.581000	0.30040	0.920000	0.31959	0.999000	0.35428	0.007000	0.07825	0.0:1.0:0.0:0.0	13.839	0.62925	749	0.51929	Palmitoyltransferase, DHHC 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	.	.	.	.	.	.	.	.	0.08333	1677.83	112	chr3	196208401	.	C	A	1677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.331;DP=287;ExcessHet=0;FS=2.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.05;SOR=0.447	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	5	0	1	0
chr3	196472630	196472630	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G905A:p.C302Y	RIDDLE syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00499286151135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268280145	2.737e-06	2.736e-06	1.362e-06	4.128e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.003	0.08700	B	0.194977	0.16748	N	0.592946	0.999885	0.19853	N	1.725	0.44537	L	3.22	0.07024	T	-2.26	0.50502	N	0.114	0.10198	-0.9207	0.45458	T	0.015	0.06282	T	10	0.0623886	0.07970	T	0.004993	0.12598	T	0.046	0.12618	0.349	0.34598	0.323342291347	0.31936	0.10270750105217588	0.10200	0.115743283681	0.13058	0.276723444462	0.07039	T	0.007017	0.06441	T	-0.362484	0.03992	T	-0.657829	0.08413	T	0.0302130436842168	0.02022	T	0.572043	0.20399	T	0.036613684	0.04537	0.08494673	0.19577	0.036613684	0.04537	0.08494673	0.19577	-4.127	0.25687	T	.	.	0.081	0.08129	B	.	.	0.492418	0.08614	5.385	0.24663769466538482	0.01101	0.59598	0.30959	D	AEFBI	0.044685	0.07219	N	-0.713318205008224	0.15647	0.7903664	-0.611369057415954	0.19201	1.029131	2.15830143590011E-4	0.05997	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.14	0.35196	0.389000	0.20478	-0.518000	0.08706	-0.235000	0.07621	0.821000	0.30003	0.000000	0.08366	0.314000	0.24830	0.0:0.6815:0.0:0.3185	7.959	0.29219	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1895.83	39	chr3	196472630	.	C	T	1895.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=339;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.07;SOR=0.827	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	0	1	0
chr3	196561459	196561459	G	A	exonic	WDR53	.	nonsynonymous SNV	WDR53:NM_001345907:exon2:c.C17T:p.T6M,WDR53:NM_001345906:exon3:c.C17T:p.T6M,WDR53:NM_001345908:exon3:c.C17T:p.T6M,WDR53:NM_001345909:exon3:c.C17T:p.T6M,WDR53:NM_001345910:exon3:c.C17T:p.T6M,WDR53:NM_001345917:exon3:c.C17T:p.T6M,WDR53:NM_001345918:exon3:c.C17T:p.T6M,WDR53:NM_182627:exon3:c.C17T:p.T6M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0639160580207	0.0002	.	0.0001	9.923e-05	8.66e-05	0	0	0.0002	0.0011	0.0001	0.0001229	19	154602	rs148755612	0.0001	0.0001	7.767e-05	0.0001	0.0006	9.101e-05	8.607e-05	0.0002	9.607e-05	0	0	0	0	0	0.0006	0.0001	8.292e-05	0.0001	7.233e-05	7.225e-05	6.426e-05	8.078e-05	0.0002	3.974e-05	3.129e-05	5.292e-05	2.837e-05	7.244e-05	0	0.0002	0	0	0	0	7.351e-05	0	0	0.034	0.44029	D	0.046	0.49120	D	0.943	0.53072	P	0.355	0.42984	B	0.003790	0.34487	N	0.317648	1	0.81001	D	1.935	0.51832	L	-0.75	0.73311	T	-0.19	0.09965	N	0.257	0.29081	-0.6020	0.64735	T	0.276	0.64804	T	10	0.18032834	0.33210	T	0.063916	0.69115	D	0.124	0.34239	.	.	0.748998116933	0.74673	0.18772272066175438	0.18690	0.412975415952	0.42019	0.445170134306	0.31284	T	0.014862	0.12575	T	-0.221279	0.17819	T	-0.2912	0.45648	T	0.0290633362509524	0.01847	T	0.715028	0.32735	T	0.021826362	0.00807	0.03868066	0.03789	0.021826362	0.00807	0.03868066	0.03789	-7.543	0.57912	D	.	.	0.084	0.26700	B	.;.;.	.;.;.	3.409103	0.47284	22.4	0.99854459655682659	0.93368	0.78165	0.38524	D	AEFBI	0.178668	0.30594	N	0.155972239245228	0.49095	3.113777	0.158924034414669	0.47617	2.98924	0.99781633589701	0.36062	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	6.02	3.08	0.34576	0.937000	0.28549	5.122000	0.47594	-0.103000	0.15852	0.728000	0.28902	1.000000	0.68203	0.819000	0.38590	0.0636:0.1058:0.5133:0.3174	6.329	0.20465	804	0.43891	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	802.83	33	chr3	196561459	.	G	A	802.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=240;ExcessHet=0;FS=3.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.077;SOR=1.313	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1127	5	0	1	0
chr3	196722501	196722501	G	A	exonic	PIGX	.	nonsynonymous SNV	PIGX:NM_001166304:exon3:c.G263A:p.G88E,PIGX:NM_017861:exon3:c.G263A:p.G88E	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0119793642883	7.7e-05	0.00119808	0.0008	0	0	0	0	0.0001	0	0.0052	0.0006404	99	154602	rs377629523	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	0	0	0	0	0	0.0012	4.229e-05	0.0004	0.0057	0.0002	0.0002	6.424e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	0	0	6.539e-05	0	0	0	0.0034	5.88e-05	0	0.0043	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999994	0.81001	D	2.695	0.78878	M	1.64	0.27822	T	-6.7	0.94223	D	0.848	0.84401	-1.0200	0.23715	T	0.171	0.51245	T	10	0.015411019	0.00324	T	0.011979	0.30135	T	0.463	0.75956	.	.	0.270447802918	0.26645	0.8487119662274744	0.84832	.	.	0.632845759392	0.57548	T	0.189484	0.56958	T	-0.0593033	0.43016	T	0.143681	0.79782	D	0.232739842629215	0.22081	T	0.867413	0.58094	D	0.5501778	0.69966	0.49874976	0.71018	0.5501778	0.69967	0.49874976	0.71019	-9.63	0.72991	D	.	.	0.698	0.75430	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626738	0.73518	26.0	0.99805012708588636	0.88906	0.95016	0.63133	D	AEFGBI	0.638349	0.61680	D	0.666658311540119	0.77449	6.67711	0.667527380226237	0.79923	7.185924	0.999996266727441	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.05	6.05	0.98156	5.569000	0.67091	11.508000	0.92991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	17.525	0.87695	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	550.83	34	chr3	196722501	.	G	A	550.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.951;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.411;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	5	0	1	0
chr3	196806643	196806643	C	T	exonic	PAK2	.	nonsynonymous SNV	PAK2:NM_002577:exon6:c.C533T:p.T178I	.	.	.	.	.	.	.	.	.	.	.	2266853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00661831038004	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs777079011	1.232e-05	1.231e-05	9.537e-06	1.514e-05	1.53e-05	7.7e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.53e-05	1.656e-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	0.211	0.19569	T	0.208	0.26883	T	0.008	0.14655	B	0.017	0.18140	B	0.000620	0.42945	D	0.265864	0.580908	0.31100	N	1.955	0.52871	M	-0.33	0.68329	T	-1.3	0.32590	N	0.206	0.22870	-0.7202	0.59453	T	0.206	0.56417	T	10	0.11467379	0.21583	T	0.006618	0.17472	T	0.045	0.12272	0.241	0.17371	0.529089648961	0.52556	0.12980837357665687	0.12905	0.813689088623	0.66843	0.372522711754	0.21193	T	0.203981	0.56262	T	-0.189754	0.22295	T	-0.379894	0.35736	T	0.40575510263443	0.29159	T	0.788921	0.42853	T	0.13661517	0.31663	0.088323615	0.20586	0.13661517	0.31663	0.088323615	0.20586	-5.161	0.38543	T	.	.	0.090	0.12560	B	.	.	3.674601	0.52266	23.2	0.99427856935034475	0.64130	0.96534	0.69620	D	AEFDGBI	0.446148	0.50233	N	0.000579522223717807	0.41880	2.513171	0.192499734662539	0.49434	3.146727	0.999999355711699	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	3.616000	0.53915	5.978000	0.52118	0.599000	0.40250	0.954000	0.33273	1.000000	0.68203	0.998000	0.85391	0.0:0.9278:0.0:0.0722	14.026	0.64105	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1393.83	34	chr3	196806643	.	C	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.405;DP=286;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.196;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	5	0	1	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.08333	1671.83	142	chr3	196886230	.	G	A	1671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.575;DP=321;ExcessHet=0;FS=2.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.289;SOR=0.626	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr3	197016233	197016233	T	C	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon8:c.A1037G:p.H346R	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00241517078824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs935164557	6.212e-06	8.209e-06	5.492e-06	6.94e-06	8.139e-06	2.92e-06	2.12e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.139e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.05720	T	0.596	0.08052	T	0.0	0.02946	B	0.0	0.01387	B	0.109356	0.02623	N	1.683850	1	0.08975	N	-1.01	0.01154	N	1.46	0.32238	T	-0.47	0.15178	N	0.074	0.04790	-1.0266	0.21560	T	0.021	0.09101	T	10	0.048202068	0.04239	T	0.002415	0.04729	T	0.122	0.33800	0.673	0.81101	0.0401082797425	0.02173	0.28992967215325793	0.28905	0.251334568712	0.27710	0.243180528283	0.03084	T	0.031353	0.22002	T	-0.386273	0.02842	T	-0.792631	0.02093	T	0.0462477562160771	0.04830	T	0.117988	0.00908	T	0.060539495	0.12433	0.045670394	0.06197	0.060539495	0.12433	0.045670394	0.06196	-3.028	0.10486	T	.	.	0.049	0.00102	B	.	.	-1.165791	0.00566	0.014	0.76881465848853059	0.11647	0.05307	0.11155	N	AEFDGBCI	0.124141	0.24006	N	-1.61105853155239	0.01210	0.05262423	-1.62880596867989	0.01489	0.06740844	0.999995664549768	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.39	-10.8	0.00171	-2.312000	0.01208	-4.629000	0.02061	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.0:0.1297:0.4587:0.4115	10.074	0.41524	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1062.83	33	chr3	197016233	.	T	C	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.19;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.33;SOR=0.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1129	5	0	1	0
chr4	271406	271418	AAAAAGGCTTTGC	-	exonic	ZNF732	.	frameshift deletion	ZNF732:NM_001137608:exon4:c.1439_1451del:p.G480Dfs*6	.	400	1113	8	1	0	10	0.00447227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0	0	0	9.753e-05	0	0.0015	.	.	.	rs781970318	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	0.0001	0.0002	0.0030	2.557e-05	3.778e-05	0.0019	0.0002	0.0005	0.0027	0.0005	0.0005	0.0005	0.0004	0.0037	0.0004	0.0003	0.0024	0.0020	7.233e-05	0	0.0002	0.0035	0	0	0.0068	0.0005	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2169.01	37	chr4	271405	.	TAAAAAGGCTTTGC	T	2169.01	.	AC=2;AF=0.167;AN=12;DP=247;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.67;QD=32.49;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1341:.	5	1	0	0
chr4	271421	271575	CACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTTTCTTATGTTTACTCAGGTATGCAGACCATCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTATCTTATGTTTATTCAGGTCTGTGGACCATCC	-	exonic	ZNF732	.	frameshift deletion	ZNF732:NM_001137608:exon4:c.1282_1436del:p.G428Wfs*12	.	401	1112	8	1	0	10	0.00447628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.681e-05	0	0	0	0	2.352e-05	0	0.0004	.	.	.	.	0.0004	0.0004	0.0003	0.0005	0.0027	0.0004	0.0004	0.0024	0.0023	0.0001	0.0002	0.0030	2.549e-05	3.774e-05	0.0017	0.0002	0.0005	0.0027	0.0004	0.0005	0.0004	0.0004	0.0033	0.0004	0.0003	0.0021	0.0017	7.221e-05	0	0.0002	0.0035	0	0	0.0068	0.0005	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2163.01	37	chr4	271420	.	ACACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTTTCTTATGTTTACTCAGGTATGCAGACCATCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTATCTTATGTTTATTCAGGTCTGTGGACCATCC	A	2163.01	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.66;QD=24.85;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1341:.	5	1	0	0
chr4	443714	443714	A	T	exonic	ZNF721	.	stopgain	ZNF721:NM_133474:exon3:c.T753A:p.C251X	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.805e-05	0	0	0	0	6.005e-05	0.0011	0.0001	5.82e-05	9	154602	rs782057251	5.61e-05	5.609e-05	6.262e-05	4.951e-05	0.0003	4.61e-05	4.236e-05	6.092e-05	4.028e-05	2.987e-05	4.473e-05	0	0	0	0.0003	5.576e-05	0.0001	8.116e-05	5.913e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.012	0.00125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196942	0.54339	T	-0.011844	0.69564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.817712	0.78441	26.9	0.97720829872358794	0.35555	0.00001	0.00044	N	AEFDGBHCI	0.028938	0.02640	N	-0.348576850923124	0.27324	1.498247	-0.791400706673585	0.14706	0.7697826	0.0591450231980989	0.15151	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.29	-1.29	0.08805	-0.488000	0.06578	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5971:0.0:0.4029:0.0	4.913	0.13185	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1127.83	103	chr4	443714	.	A	T	1127.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=283;ExcessHet=0;FS=0.748;MLEAC=1;MLEAF=0.083;MQ=59.63;MQRankSum=-1.162;QD=10.95;ReadPosRankSum=-1.294;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	5	0	1	0
chr4	508952	508952	G	T	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon3:c.G484T:p.A162S,PIGG:NM_001127178:exon5:c.G883T:p.A295S,PIGG:NM_001289051:exon5:c.G616T:p.A206S,PIGG:NM_001289053:exon5:c.G616T:p.A206S,PIGG:NM_001289057:exon5:c.G616T:p.A206S,PIGG:NM_001345986:exon5:c.G616T:p.A206S,PIGG:NM_001345987:exon5:c.G616T:p.A206S,PIGG:NM_001345989:exon5:c.G883T:p.A295S,PIGG:NM_017733:exon5:c.G883T:p.A295S,PIGG:NM_001289055:exon6:c.G517T:p.A173S	Mental retardation, autosomal recessive 53, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	453479	not_provided|Intellectual_disability,_autosomal_recessive_53	MedGen:C3661900|MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	.	0.00359425	0.0022	9.641e-05	8.654e-05	0.0001	0	0	0.0011	0.0161	0.0019081	295	154602	rs201853289	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	0	0	0	0	0	0.0009	6.3e-06	0.0010	0.0148	0.0006	0.0006	0.0004	0.0007	0.0170	0.0005	0.0004	0.0141	0.0130	4.812e-05	0	0	0	0	0	0	2.941e-05	0	0.0170	0.069	0.35537	T	0.637	0.14034	T	0.087	0.39274	B	0.138	0.41825	B	0.000632	0.42799	N	0.263398	0.996207	0.45440	D	0.845	0.21182	L	1.57	0.29342	T	-1.18	0.32387	N	0.158	0.22486	-1.1136	0.02778	T	0.051	0.21650	T	10	0.00865224	0.00196	T	.	.	.	0.034	0.08419	0.492	0.57890	0.549839970675	0.54641	0.5383590374740971	0.53760	0.296311225243	0.32018	0.38789588213	0.23374	T	0.00878	0.12555	T	-0.526658	0.00402	T	-0.51696	0.20602	T	0.0130494112351107	0.00228	T	0.785921	0.42665	T	0.08472385	0.19623	0.09147753	0.21510	0.09716326	0.22897	0.08380412	0.19233	-7.124	0.54933	T	0.43623564536683135	0.52253	0.076	0.12084	B	.;.;.;.;.;.	.;.;.;.;.;.	3.387043	0.46878	22.4	0.96117647886814139	0.28762	0.94792	0.62345	D	AEFBI	0.434366	0.49545	N	-0.222357876124866	0.32217	1.814583	-0.0630850959321029	0.36929	2.155549	0.995456201603228	0.34136	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.77	0.42499	2.718000	0.46904	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:0.0:0.6402:0.3598	12.442	0.54967	809	0.43032	.;GPI ethanolamine phosphate transferase 2, N-terminal;GPI ethanolamine phosphate transferase 2, N-terminal;.;.;GPI ethanolamine phosphate transferase 2, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	858.83	38	chr4	508952	.	G	T	858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.871;DP=255;ExcessHet=0;FS=6.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.664;SOR=1.421	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1258	5	0	1	0
chr4	539187	539187	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon11:c.G2371A:p.A791T,PIGG:NM_001345988:exon12:c.G1741A:p.A581T,PIGG:NM_001127178:exon13:c.G2770A:p.A924T,PIGG:NM_001289051:exon13:c.G2503A:p.A835T,PIGG:NM_001345986:exon13:c.G2503A:p.A835T,PIGG:NM_001345987:exon13:c.G2479A:p.A827T,PIGG:NM_001345991:exon13:c.G1237A:p.A413T,PIGG:NM_017733:exon13:c.G2746A:p.A916T,PIGG:NM_001345990:exon14:c.G1237A:p.A413T,PIGG:NM_001345994:exon14:c.G1672A:p.A558T	Mental retardation, autosomal recessive 53, Autosomal recessive	438	1081	3	0	0	3	0.00138568	.	.	.	1396550	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0128602314542	.	.	2.472e-05	0	8.643e-05	0	0	0	0.0011	6.062e-05	1.94e-05	3	154602	rs771098011	3.697e-05	4.036e-05	2.997e-05	4.403e-05	0.0001	2.896e-05	2.594e-05	5.853e-05	3.761e-05	0.0001	4.472e-05	0	0	0	0	3.78e-05	6.629e-05	1.16e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.263	0.22962	T	1.0	0.90584	D	0.921	0.67449	D	0.000000	0.84330	D	0.052785	1	0.81001	D	1.6	0.40776	L	1.89	0.23688	T	-2.33	0.51646	N	0.668	0.67650	-0.9596	0.39255	T	0.166	0.50469	T	10	0.7502786	0.75586	D	0.01286	0.31797	T	0.236	0.53931	0.513	0.61153	0.389904358541	0.38601	0.4975092880807593	0.49671	0.619018765651	0.56272	0.487798929214	0.37134	T	0.022471	0.24224	T	-0.0230395	0.48421	T	-0.174017	0.57075	T	0.83707070350647	0.49090	D	0.920308	0.71149	D	0.2546722	0.48497	0.2553335	0.51214	0.2546722	0.48497	0.2553335	0.51213	-5.669	0.43417	T	0.6552967462771384	0.72800	0.119	0.24901	B	.;.;.;.	.;.;.;.	4.740155	0.76438	26.5	0.99914214941967339	0.98309	0.97619	0.75946	D	AEFBI	0.801403	0.72712	D	0.688091156168018	0.78853	6.955769	0.661239366376219	0.79450	7.085046	0.999992539546888	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	6.828000	0.75100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	17.790	0.88460	788	0.46569	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	683.83	33	chr4	539187	.	G	A	683.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=218;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=3.26;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	5	0	1	0
chr4	625758	625758	C	G	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon1:c.C132G:p.C44W,PDE6B:NM_001145291:exon1:c.C132G:p.C44W	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	190239	not_provided|not_specified|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.126	.	.	0.00319489	0.0016	0	8.708e-05	0.0001	0	0	0.0011	0.0115	0.0013777	213	154602	rs199974771	0.0006	0.0006	0.0003	0.0010	0.0105	0.0006	0.0006	0.0099	0.0097	2.987e-05	0	0	0	0	0.0003	6.296e-06	0.0006	0.0105	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0139	0.184	0.21634	T	0.185	0.28958	T	0.912	0.50421	P	0.218	0.37679	B	0.006034	0.32324	N	0.318938	0.99999	0.08975	N	1.61	0.41143	L	-0.03	0.63077	T	-0.94	0.25118	N	0.319	0.38950	-0.9646	0.38290	T	0.129	0.43848	T	10	0.0037167966	0.00069	T	.	.	.	0.126	0.34673	0.366	0.37361	0.687922634686	0.68525	0.3606347626133931	0.35977	0.414536822146	0.42131	0.467083126307	0.34281	T	0.335312	0.70494	T	-0.44387	0.01227	T	-0.40097	0.33271	T	0.018287768760397	0.00547	T	0.355164	0.08047	T	0.07152626	0.15843	0.07974917	0.17979	0.061000917	0.12582	0.08701769	0.20198	-4.392	0.29503	T	0.15711441266361234	0.18950	0.117	0.24498	B	.;.	.;.	0.334897	0.07086	3.659	0.61430163978174157	0.06707	0.20125	0.20924	N	AEFBI	0.384002	0.46529	N	-0.645089376795992	0.17603	0.907235	-0.790932096402791	0.14717	0.7704507	0.924563005598333	0.26783	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.98	0.577	0.16569	0.018000	0.13315	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4514:0.0:0.5486	8.130	0.30179	803	0.44167	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1343.83	35	chr4	625758	.	C	G	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.35;SOR=0.635	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr4	883327	883327	C	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon10:c.G1155T:p.R385S,GAK:NM_005255:exon13:c.G1392T:p.R464S	.	.	.	.	.	.	.	.	.	.	.	2356230	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.413048852797	0.0002	.	0.0003	0.0002	0.0003	0	0	0.0003	0	0.0003	0.0002005	31	154602	rs144499981	0.0002	0.0002	0.0001	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0	0	6.295e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	8.71e-05	0.0002	8.992e-05	0.0001	0	0	0.0032	0	0	0	5.879e-05	0	0.0006	0.017	0.58626	D	0.016	0.63109	D	0.474	0.36620	P	0.271	0.39904	B	0.000120	0.50451	D	0.169845	0.99641	0.44237	D	1.32	0.33002	L	-5.09	0.98684	D	-3.15	0.64132	D	0.417	0.45709	0.743	0.93710	D	0.860	0.95342	D	10	0.038375884	0.02252	T	0.413049	0.93638	D	0.477	0.76881	.	.	0.674739086745	0.67198	0.672210641853319	0.67159	0.263747075775	0.28933	0.357754290104	0.19058	T	0.378168	0.74120	T	-0.102432	0.36020	T	-0.0743942	0.65311	T	0.0741640605524506	0.09224	T	0.960504	0.85148	D	0.22763444	0.45468	0.17955123	0.40696	0.22763444	0.45468	0.17955123	0.40696	-14.767	0.95282	D	.	.	0.902	0.82904	P	.;.	.;.	2.773625	0.36418	20.2	0.99233073321773568	0.56278	0.75771	0.37116	D	AEFDBCI	0.408921	0.48040	N	-0.117211494846717	0.36644	2.120836	-0.0803744643829238	0.36201	2.103837	0.58261671976044	0.21583	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	3.68	0.41359	-0.067000	0.11538	.	.	-0.237000	0.07570	0.640000	0.28085	0.069000	0.22184	0.439000	0.27649	0.0:0.7556:0.0:0.2444	7.638	0.27443	774	0.48577	Tensin-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.1667	1835.04	33	chr4	883327	.	C	A	1835.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.6;SOR=1.143	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1228	5	1	0	0
chr4	947843	947843	G	A	exonic	TMEM175	.	nonsynonymous SNV	TMEM175:NM_032326:exon2:c.G104A:p.R35H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3613527	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.793	0.358247144127	.	.	2.495e-05	0	0	0	0.0002	3.039e-05	0	0	1.94e-05	3	154602	rs755453723	1.232e-05	1.3e-05	6.81e-06	1.788e-05	0.0002	7.7e-06	6.35e-06	2.995e-05	2.038e-05	0	0	0	0	1.897e-05	0.0002	8.094e-06	1.656e-05	6.956e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	6.54e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999868	0.81001	D	3.09	0.87444	M	-0.09	0.64086	T	-4.24	0.77470	D	0.878	0.87590	-0.0174	0.81892	T	0.457	0.78854	T	10	0.9776528	0.97605	D	0.358247	0.92445	D	0.793	0.93188	0.914	0.98346	0.650117735122	0.64721	0.8779724536895948	0.87764	0.7397739539	0.63186	0.685259521008	0.65025	T	0.317	0.68822	T	0.222781	0.76038	D	0.263761	0.86271	D	0.99241977930069	0.82888	D	0.887811	0.61653	D	0.8783314	0.89530	0.8439832	0.91102	0.8783314	0.89531	0.8439832	0.91102	-12.534	0.87355	D	.	.	0.571	0.75478	P	.;.;.;.	.;.;.;.	5.444119	0.90971	32	0.99956791829543667	0.99981	0.99055	0.90567	D	AEFDBI	0.897330	0.83938	D	0.878381979677464	0.90660	10.50629	0.827865231790282	0.91660	11.00082	0.999999997552461	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.09	5.09	0.68647	4.979000	0.63525	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	14.405	0.66645	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1346.83	52	chr4	947843	.	G	A	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.723;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.995;SOR=0.681	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	5	0	1	0
chr4	952434	952522	CCATTGGGGTCGTGCAGGTAGGGGGCCTGGGGGGCCTGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATCA	-	exonic	TMEM175	.	frameshift deletion	TMEM175:NM_001297424:exon5:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297425:exon5:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297428:exon5:c.98_114del:p.A33Gfs*97,TMEM175:NM_001297423:exon7:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297427:exon7:c.98_114del:p.A33Gfs*97,TMEM175:NM_032326:exon7:c.446_462del:p.A149Gfs*97,TMEM175:NM_001297426:exon8:c.98_114del:p.A33Gfs*97	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	8.754e-05	0	0.0003	0.0002	0	6.103e-05	.	.	.	.	6.538e-05	0.0002	5.616e-05	7.469e-05	0.0008	5.461e-05	5.072e-05	0.0006	0.0005	0.0008	2.25e-05	0	0	1.997e-05	0	2.977e-05	0.0005	2.331e-05	0.0006	0.0017	0.0005	0.0006	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0.0003	0	0.0004	0.0008	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	78.79	35	chr4	952433	.	GCCATTGGGGTCGTGCAGGTAGGGGGCCTGGGGGGCCTGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATCA	G	78.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.041;DP=224;ExcessHet=0;FS=1.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.97;ReadPosRankSum=0.369;SOR=0.808	GT:AD:DP:GQ:PL	0/1:35,5:40:89:89,0,1405	5	0	1	0
chr4	952438	952438	T	0	exonic	TMEM175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5111.15	55	chr4	952438	.	T	*	5111.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.666;DP=274;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=1.29;SOR=0.72	GT:AD:DP:GQ:PL	0/1:0,5:40:89:1263,920,1405	5	0	1	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.3333	1894.94	34	chr4	1081428	.	G	C	1894.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.08;DP=187;ExcessHet=0.1336;FS=4.375;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=0.325;SOR=1.22	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	3	1	2	0
chr4	1113412	1113412	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon1:c.C53G:p.S18W,RNF212:NM_001193318:exon1:c.C53G:p.S18W,RNF212:NM_001366918:exon1:c.C53G:p.S18W,RNF212:NM_001366919:exon1:c.C53G:p.S18W,RNF212:NM_194439:exon1:c.C53G:p.S18W	Recombination rate QTL 1	9	1506	7	0	0	7	0.00231865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.942646195484	.	0.00119808	0.0012	0.0001	0.0003	0	0	0.0006	0.0024	0.0058	0.0009573	148	154602	rs201230381	0.0006	0.0007	0.0005	0.0008	0.0053	0.0006	0.0006	0.0049	0.0047	0.0002	0.0003	0	2.552e-05	0	0.0031	0.0004	0.0009	0.0053	0.0005	0.0005	0.0005	0.0004	0.0048	0.0004	0.0003	0.0033	0.0028	2.441e-05	0	0.0002	0	0	0	0	0.0006	0.0010	0.0048	0.016	0.68238	D	0.003	0.79402	D	0.999	0.77913	D	0.95	0.75477	D	0.033584	0.24878	U	0.195061	1	0.08975	N	1.79	0.46772	L	-3.11	0.92721	D	-2.55	0.55501	D	0.333	0.37405	0.103	0.84238	D	0.769	0.92157	D	10	0.01812753	0.00392	T	0.942646	0.99596	D	0.387	0.70358	.	.	0.94308573582	0.94249	0.342305281635144	0.34143	0.723625428405	0.62344	0.615534305573	0.55098	T	0.667352	0.90087	D	-0.224972	0.17318	T	-0.0945664	0.63815	T	0.0384888595322806	0.03420	T	0.812119	0.46890	T	0.12829687	0.29997	0.13990742	0.33367	0.12829687	0.29997	0.13990742	0.33366	-12.602	0.89694	D	.	.	0.273	0.69559	B	.;.;.	.;.;.	3.915812	0.57135	23.8	0.91049291499057239	0.20301	0.11889	0.16926	N	AEFDBHCI	0.190200	0.31743	N	-0.0828495216520019	0.38144	2.229623	-0.257578673122858	0.29510	1.653942	0.999999861993212	0.74766	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.43	2.69	0.30923	1.891000	0.39372	2.330000	0.32189	0.580000	0.29708	0.013000	0.18845	0.048000	0.21764	0.585000	0.31016	0.1887:0.0:0.8113:0.0	8.239	0.30810	874	0.30607	.;Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002525	0.000000	0.000000	0.005882	0.000000	0.008621	0.000000	0.003788	0.08333	705.83	69	chr4	1113412	.	G	C	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.217;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1096	5	0	1	0
chr4	1655285	1655285	C	T	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.G575A:p.G192D,FAM53A:NM_001174070:exon4:c.G575A:p.G192D,FAM53A:NM_001297435:exon4:c.G575A:p.G192D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0138965567205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747258119	4.947e-05	4.994e-05	4.579e-05	5.337e-05	6.032e-05	3.951e-05	3.591e-05	4.801e-05	4.358e-05	0	0	0	0	0	0	6.032e-05	1.903e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.23	0.19293	T	0.147	0.32783	T	0.675	0.43659	P	0.154	0.34892	B	0.027437	0.25758	U	0.352612	0.988402	0.24414	N	1.245	0.31408	L	1.04	0.40218	T	-1.26	0.31778	N	0.241	0.27316	-1.0106	0.26729	T	0.079	0.31284	T	10	0.16265723	0.30479	T	0.013897	0.33646	T	0.068	0.19811	0.184	0.09259	0.290590437066	0.28656	0.18312300235652695	0.18231	0.129811716182	0.14634	0.741762459278	0.73233	T	0.00687	0.06296	T	-0.137808	0.30241	T	-0.435728	0.29288	T	0.427430719137192	0.29966	T	0.706729	0.31713	T	0.17028326	0.37594	0.26186287	0.51970	0.17028326	0.37593	0.26186287	0.51969	-4.2	0.26751	T	.	.	0.194	0.41511	B	.;.;.;.	.;.;.;.	2.381399	0.30571	18.48	0.98193365820135237	0.39053	0.93125	0.57392	D	AEFDBI	0.286144	0.39860	N	-0.205540491142311	0.32906	1.860976	-0.232229384059861	0.30388	1.710586	0.999999814361699	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	4.21	0.48984	2.135000	0.41735	3.034000	0.36053	0.450000	0.21304	1.000000	0.71638	0.051000	0.21832	0.095000	0.18041	0.0:1.0:0.0:0.0	16.572	0.84472	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1042.83	84	chr4	1655285	.	C	T	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.583;DP=303;ExcessHet=0;FS=4.194;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.201;SOR=0.433	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,103,1540	5	0	1	0
chr4	1655300	1655300	G	A	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.C560T:p.P187L,FAM53A:NM_001174070:exon4:c.C560T:p.P187L,FAM53A:NM_001297435:exon4:c.C560T:p.P187L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.116265846183	0.0003	0.000399361	0.0019	0	0	0	0	0.0022	0	0.0056	0.0004204	65	154602	rs367984289	0.0008	0.0008	0.0008	0.0008	0.0047	0.0008	0.0008	0.0032	0.0027	0.0001	0.0005	0.0041	6.443e-05	8.376e-05	0.0047	0.0008	0.0010	0.0008	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	2.405e-05	0	0.0004	0.0046	0	9.411e-05	0.0137	0.0007	0.0014	0.0010	0.004	0.65419	D	0.006	0.74150	D	0.999	0.90584	D	0.944	0.69447	D	0.000030	0.55875	U	0.000000	0.999994	0.58761	D	2.125	0.59049	M	0.85	0.47130	T	-5.16	0.83422	D	0.219	0.24510	-0.4783	0.69429	T	0.333	0.70026	T	10	0.011476725	0.00251	T	0.116266	0.79570	D	0.170	0.43303	.	.	0.498128463463	0.49448	0.3031369617787417	0.30226	0.314474479779	0.33730	0.673882126808	0.63391	T	0.053537	0.29470	T	-0.37577	0.03312	T	-0.319808	0.42595	T	0.0904944386538814	0.11276	T	0.833117	0.50161	T	0.27395347	0.50462	0.31220442	0.57224	0.27395347	0.50462	0.31220442	0.57223	-4.234	0.27241	T	.	.	0.143	0.31381	B	.;.;.;.	.;.;.;.	2.961397	0.39439	21.0	0.99809351960839021	0.89353	0.85024	0.44125	D	AEFDBI	0.246578	0.36731	N	-0.0559929859966548	0.39336	2.317971	-0.118463950554444	0.34645	1.995265	0.950572074554561	0.27902	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.33	3.48	0.38946	1.206000	0.31926	1.647000	0.27824	0.505000	0.23025	0.810000	0.29852	0.958000	0.29226	0.241000	0.23027	0.084:0.0:0.916:0.0	12.261	0.53966	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003099	0.000000	0.005525	0.000000	0.000000	0.000000	0.000000	0.007752	0.08333	834.83	83	chr4	1655300	.	G	A	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=306;ExcessHet=0;FS=3.724;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.221;SOR=0.667	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,103,1540	5	0	1	0
chr4	1723432	1723432	A	G	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon2:c.A11G:p.Q4R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0648605208433	0.0006	.	0.0007	9.792e-05	0	0.0001	0	0.0012	0	6.227e-05	0.0006145	95	154602	rs145470576	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0002	0.0001	0	0	0.0165	2.519e-05	0	0.0007	8.005e-05	0.0012	4.638e-05	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	6.811e-05	2.851e-05	9.644e-05	0	0	0.0158	0.0004	0	0	8.82e-05	0.0005	0	0.048	0.51248	D	0.036	0.55759	D	0.989	0.62824	D	0.843	0.60313	P	0.089204	0.20439	N	0.399017	0.964693	0.38422	D	2.005	0.54552	M	0.76	0.52416	T	-2.84	0.62151	D	0.527	0.55626	-0.6506	0.62688	T	0.231	0.59670	T	10	0.004968792	0.00107	T	0.064861	0.69406	D	0.135	0.36572	.	.	0.64922787489	0.64631	0.09941457129130962	0.09872	0.277238113227	0.30200	0.308177351952	0.11631	T	0.213549	0.70615	T	-0.311167	0.07646	T	-0.429701	0.29969	T	0.0613882570302075	0.07386	T	0.616038	0.24174	T	0.20778756	0.42995	0.23533086	0.48773	0.20778756	0.42995	0.23533086	0.48772	-4.539	0.31395	T	.	.	0.127	0.39865	B	.;.;.;.;.;.	.;.;.;.;.;.	2.261423	0.28895	17.95	0.99608051359350869	0.74634	0.85424	0.44555	D	ALL	0.280330	0.39417	N	0.292286038609052	0.55758	3.739825	0.212314336258528	0.50529	3.244079	0.999999999948615	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.09	3.88	0.43959	2.931000	0.48625	2.849000	0.35128	0.756000	0.94297	0.992000	0.37556	0.969000	0.29651	0.635000	0.32288	0.8622:0.0:0.0:0.1378	11.182	0.47860	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	651.83	35	chr4	1723432	.	A	G	651.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.821;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.322;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	5	0	1	0
chr4	1737610	1737610	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon10:c.C1849T:p.P617S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119839897747	.	.	0.0002	0	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs769227637	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0.0002	0.0008	0.0004	2.664e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	0.0004	0	0	0.106	0.29688	T	0.041	0.50514	D	0.998	0.73220	D	0.862	0.61339	P	0.155462	0.17829	N	0.396912	1	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-3.17	0.64363	D	0.132	0.12770	-1.0545	0.13172	T	0.039	0.16935	T	10	0.119917035	0.22702	T	0.011984	0.30135	T	0.038	0.09825	.	.	0.301789629655	0.29801	0.27866409838710066	0.27779	0.112956299353	0.12750	0.412357717752	0.26783	T	0.286452	0.65924	T	-0.604624	0.00137	T	-0.665905	0.07873	T	0.041165037770669	0.03901	T	0.267173	0.04416	T	0.032341078	0.03241	0.0486145	0.07258	0.032341078	0.03241	0.0486145	0.07257	-3.367	0.14615	T	.	.	0.081	0.08033	B	.	.	0.555373	0.09238	6.022	0.99107600902251847	0.52648	0.12002	0.16998	N	AEFBCI	0.045509	0.07451	N	-0.736505845893636	0.15002	0.7522635	-0.881457356104698	0.12534	0.6452659	0.999661877271272	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.86	1.15	0.19876	-0.404000	0.07267	-1.010000	0.06616	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5475:0.1701:0.2823	4.605	0.11763	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	827.83	34	chr4	1737610	.	C	T	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=268;ExcessHet=0;FS=1.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.436;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1257	5	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.08333	982.83	33	chr4	1744729	.	C	A	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.588;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.492;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,40:67:99:993,0,750	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	71.99	69	chr4	2662992	.	G	C	71.99	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.278;DP=437;ExcessHet=0;FS=155.759;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.813;SOR=7.7	GT:AD:DP:GQ:PL	0/0:54,0:54:24:0,24,1321	3	0	1	2
chr4	2832353	2832353	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon11:c.C1429T:p.R477W,SH3BP2:NM_001145855:exon11:c.C1513T:p.R505W,SH3BP2:NM_001145856:exon11:c.C1600T:p.R534W,SH3BP2:NM_003023:exon11:c.C1429T:p.R477W	Cherubism, Autosomal dominant	0	1469	50	3	0	56	0.0187041	.	.	.	298197	not_specified|not_provided|Fibrous_dysplasia_of_jaw	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.353	.	0.0032	0.00419329	0.0048	0.0007	0.0014	0.0009	0.0005	0.0044	0.0111	0.0145	0.0046895	725	154602	rs148761331	0.0047	0.0047	0.0043	0.0051	0.0141	0.0046	0.0045	0.0135	0.0132	0.0008	0.0011	0.0028	0.0006	0.0004	0.0097	0.0046	0.0042	0.0141	0.0030	0.0030	0.0034	0.0027	0.0135	0.0028	0.0027	0.0108	0.0099	0.0007	0.0011	0.0010	0.0035	0.0017	0.0003	0	0.0048	0.0024	0.0135	0.005	0.65419	D	0.012	0.79402	D	0.993	0.65571	D	0.719	0.54822	P	0.547009	0.05347	N	1.263160	1	0.08975	N	.	.	.	-1.34	0.80214	T	-2.13	0.50012	N	0.436	0.58287	-0.4768	0.69483	T	0.503	0.81247	D	10	0.009694606	0.00218	T	.	.	.	0.353	0.67418	.	.	0.891418545996	0.89034	.	.	0.496001013045	0.48122	0.261938273907	0.05123	T	0.64222	0.89042	D	-0.285483	0.10094	T	-0.170529	0.57394	T	0.0299888361982015	0.01988	T	0.90391	0.66280	D	0.066479646	0.14309	0.08433826	0.19394	0.076425284	0.17283	0.07091893	0.15126	-7.768	0.60633	D	.	.	0.076	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	4.179443	0.62902	24.5	0.99886729642261152	0.96204	0.36689	0.25591	N	AEFDGBCI	0.174426	0.30155	N	0.0692387533215059	0.45032	2.766651	0.0143435380050956	0.40378	2.408904	0.999998199745543	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	4.35	0.51454	0.929000	0.28445	3.811000	0.39910	0.599000	0.40250	0.250000	0.24849	0.173000	0.23359	0.798000	0.37648	0.2103:0.6731:0.1166:0.0	9.358	0.37340	726	0.54788	SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.026515	0.1667	2077.06	36	chr4	2832353	.	C	T	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.08;DP=328;ExcessHet=0.4139;FS=4.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.34;SOR=0.433	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1141,0,1373	4	0	2	0
chr4	3220271	3220271	A	T	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon53:c.A7332T:p.E2444D	Huntington disease, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1548358	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.250	0.011105136864	0.0026	0.00139776	0.0018	0.0004	0.0003	0	0.0006	0.0022	0	0.0034	0.0017335	268	154602	rs201702168	0.0021	0.0021	0.0020	0.0021	0.0035	0.0020	0.0020	0.0031	0.0030	0.0003	0.0005	7.652e-05	0	0.0004	0.0002	0.0023	0.0015	0.0035	0.0013	0.0013	0.0014	0.0012	0.0039	0.0012	0.0011	0.0026	0.0021	0.0005	0	0.0010	0	0	0.0003	0.0068	0.0020	0.0014	0.0039	0.501	0.07720	T	0.276	0.21947	T	0.012	0.16265	B	0.007	0.12992	B	0.000001	0.62929	D	0.056285	0.885099	0.35831	D	-0.13	0.04535	N	4.01	0.03208	T	0.07	0.06138	N	0.136	0.13341	-0.8858	0.49290	T	0.006	0.02055	T	10	0.008853495	0.00200	T	0.011105	0.28373	T	0.250	0.55888	0.259	0.20159	0.56863543693	0.56528	0.1769626540286762	0.17615	0.356238940611	0.37372	0.480992972851	0.36193	T	0.090963	0.38697	T	-0.496792	0.00596	T	-0.490062	0.23384	T	0.00159497845904096	0.00016	T	0.882812	0.60417	D	0.103378475	0.24434	0.07995095	0.18044	0.103378475	0.24434	0.07995095	0.18044	-3.113	0.11446	T	0.0707818067983506	0.02763	0.144	0.31758	B	.	.	1.157291	0.15458	11.87	0.85482163761259233	0.15920	0.64683	0.32487	D	AEFBCI	0.105593	0.21093	N	-1.03181025479411	0.07949	0.3710426	-0.894077986312481	0.12234	0.6280933	0.712998349709967	0.22842	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	-1.12	0.09306	0.130000	0.15676	0.601000	0.19925	-0.056000	0.16711	0.964000	0.33853	0.982000	0.30508	0.768000	0.36443	0.4236:0.0:0.5764:0.0	13.945	0.63589	450	0.79359	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	1722.04	34	chr4	3220271	.	A	T	1722.04	.	AC=2;AF=0.167;AN=12;DP=231;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.49;SOR=0.73	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1241	5	1	0	0
chr4	3493203	3493203	A	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.A287C:p.D96A,DOK7:NM_001363811:exon5:c.A785C:p.D262A,DOK7:NM_001301071:exon7:c.A1217C:p.D406A,DOK7:NM_173660:exon7:c.A1217C:p.D406A	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660	0.747982537129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.522e-05	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.941	0.52883	P	0.531	0.48577	P	0.000004	0.62929	D	0.059077	0.978192	0.81001	D	2.395	0.69210	M	-1.2	0.78537	T	-5.81	0.88224	D	0.741	0.74098	0.318	0.87843	D	0.614	0.86334	D	10	0.75508904	0.75922	D	0.747983	0.97988	D	0.660	0.87283	0.447	0.50629	0.884373466241	0.88323	0.7056341543468009	0.70505	0.0175363588794	0.01705	0.64201772213	0.58851	T	0.601065	0.87215	D	-0.0108172	0.50152	T	-0.0808569	0.64841	T	0.980637192726135	0.73466	D	0.876912	0.59601	D	0.5881932	0.72053	0.4346186	0.66975	0.5881932	0.72054	0.4346186	0.66975	-7.767	0.59471	D	0.8094297760728245	0.88468	0.561	0.72287	A	.;.;.	.;.;.	3.919089	0.57202	23.8	0.99152540238696629	0.53848	0.62533	0.31810	D	AEFDBCI	0.234075	0.35689	N	0.309353032399032	0.56626	3.827759	0.202581184877787	0.49989	3.19586	0.99999059972176	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.77	3.77	0.42499	2.640000	0.46245	10.539000	0.83417	0.653000	0.53440	0.997000	0.40164	1.000000	0.68203	0.021000	0.11733	1.0:0.0:0.0:0.0	11.900	0.51956	900	0.24599	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2562.06	40	chr4	3493203	.	A	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.13;DP=337;ExcessHet=0.4139;FS=0.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.57;SOR=0.766	GT:AD:DP:GQ:PL	0/1:40,60:100:99:1553,0,1036	4	0	2	0
chr4	6301089	6301089	C	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C1294G:p.L432V,WFS1:NM_006005:exon8:c.C1294G:p.L432V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1483	39	0	0	39	0.0129784	.	.	.	141616	not_provided|Meniere_disease|Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Monogenic_diabetes|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified	MedGen:C3661900|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.631986708747	0.0038	0.00279553	0.0036	0.0006	0.0034	0	0.0002	0.0054	0.0022	0.0020	0.0035963	556	154602	rs35031397	0.0038	0.0038	0.0038	0.0038	0.0147	0.0037	0.0037	0.0122	0.0113	0.0008	0.0044	0.0148	2.519e-05	0.0004	0.0147	0.0039	0.0050	0.0020	0.0031	0.0031	0.0031	0.0031	0.0044	0.0029	0.0028	0.0039	0.0037	0.0008	0.0022	0.0044	0.0141	0.0002	0	0.0238	0.0043	0.0099	0.0008	0.027	0.46513	D	0.013	0.63109	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999822	0.49512	D	2.83	0.82355	M	-3.13	0.92829	D	-2.27	0.50666	N	0.782	0.77883	0.668	0.92777	D	0.792	0.92945	D	10	0.03004542	0.01131	T	0.631987	0.96842	D	0.799	0.93425	.	.	0.954339803291	0.95385	0.8094131245064289	0.80896	.	.	0.549522697926	0.45791	T	0.404214	0.76074	T	-0.020888	0.48728	T	0.200945	0.83179	D	0.040408633033633	0.03765	T	0.882012	0.60217	D	0.15146889	0.34432	0.15146093	0.35677	0.16020355	0.35944	0.15783978	0.36888	-3.917	0.22557	T	0.8131656937764546	0.88769	0.353	0.58446	A	.;.	.;.	3.074315	0.41339	21.3	0.99665888994743779	0.78266	0.91363	0.53383	D	AEFBI	0.483112	0.52369	N	0.579516302491356	0.71896	5.72132	0.509547715557786	0.68631	5.246821	0.818714971318017	0.24485	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	1.740000	0.37852	4.898000	0.45831	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.8975:0.0:0.1025	10.341	0.43062	970	0.06235	.;.	.	.	.	.	.	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	0.012588	0.000000	0.017663	0.000000	0.000000	0.017241	0.009146	0.022727	0.08333	2856.83	146	chr4	6301089	.	C	G	2856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.321;DP=933;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.168;SOR=0.668	GT:AD:DP:GQ:PL	0/0:161,0:161:99:0,120,1800	5	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:82,26:108:99:209,0,1841	0	0	5	1
chr4	8227681	8227681	G	C	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1759C:p.A587P,SH3TC1:NM_018986:exon12:c.G1987C:p.A663P	.	427	1091	1	0	3	4	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.504845256666	.	0.00119808	0.0005	0	0	0	0	0.0002	0	0.0036	0.0003946	61	154602	rs556574724	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0041	0	5.431e-05	0	0	0	0.0009	8.357e-05	0.0003	0.0047	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	6.534e-05	0	0	0	0	8.824e-05	0.0009	0.0054	0.193	0.20912	T	0.088	0.40586	T	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.989085	0.41501	D	2.65	0.77586	M	-1.43	0.80730	T	-3.28	0.65627	D	0.708	0.71143	0.110	0.84362	D	0.584	0.85065	D	10	0.031876594	0.01328	T	0.504845	0.95210	D	0.636	0.86078	0.5	0.59147	0.83412164292	0.83254	0.7442134319750696	0.74367	0.233966516908	0.25932	0.64973962307	0.59950	T	0.028684	0.20722	T	-0.133651	0.30906	T	0.0347237	0.72585	D	0.210489658799428	0.20979	T	0.874613	0.58533	D	0.77549344	0.82378	0.67564005	0.80954	0.77549344	0.82380	0.67564005	0.80955	-11.056	0.79964	D	.	.	0.696	0.72811	P	.	.	4.719222	0.75895	26.4	0.99702866465668027	0.80729	0.92503	0.55864	D	AEFDBCI	0.811709	0.73462	D	0.577132960037135	0.71750	5.698445	0.53506118390118	0.70366	5.494483	0.999999999336693	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.662433	0.64102	0	.	.	4.46	4.46	0.53567	4.156000	0.57917	11.469000	0.92852	0.588000	0.31329	0.998000	0.41325	1.000000	0.68203	0.956000	0.50813	0.0884:0.0:0.9116:0.0	10.816	0.45779	988	0.01987	.	.	.	.	.	.	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	0.003027	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.1667	1758.04	64	chr4	8227681	.	G	C	1758.04	.	AC=2;AF=0.167;AN=12;DP=280;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.47;SOR=0.813	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	1	0	0
chr4	8228326	8228326	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2404T:p.R802W,SH3TC1:NM_018986:exon12:c.C2632T:p.R878W	.	405	1069	45	3	0	51	0.0232983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0080	0.00379393	0.0085	0.0024	0.0107	0	0.0017	0.0110	0.0114	0.0079	0.008247	1275	154602	rs116515695	0.0099	0.0099	0.0099	0.0100	0.0162	0.0098	0.0097	0.0135	0.0125	0.0018	0.0120	0.0133	0.0002	0.0026	0.0162	0.0109	0.0094	0.0075	0.0083	0.0083	0.0085	0.0081	0.0155	0.0079	0.0077	0.0139	0.0132	0.0023	0.0022	0.0155	0.0156	0	0.0028	0.0102	0.0116	0.0104	0.0064	0.018	0.50676	D	0.062	0.45318	T	0.864	0.47514	P	0.263	0.39594	B	0.005741	0.32538	N	0.326308	1	0.08975	N	2.885	0.83555	M	-0.26	0.67187	T	-5.73	0.87611	D	0.505	0.53708	-0.8657	0.50849	T	0.112	0.40006	T	10	0.009637147	0.00217	T	.	.	.	0.278	0.59497	.	.	0.484913652648	0.48122	0.46698923295145245	0.46617	0.218053028388	0.24340	0.481912225485	0.36321	T	0.240283	0.60858	T	-0.428911	0.01505	T	-0.375252	0.36277	T	0.1097481939629	0.13398	T	0.847115	0.52772	T	0.059006594	0.11940	0.089378275	0.20897	0.059006594	0.11940	0.089378275	0.20896	-8.491	0.64370	D	.	.	0.108	0.20430	B	.	.	1.805067	0.22940	15.82	0.93402194401286565	0.23161	0.03711	0.08995	N	AEFDBHCI	0.344076	0.43968	N	-1.09239725191294	0.06782	0.3132109	-1.29245337101502	0.04532	0.2139726	0.999999999899822	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.603688	0.36954	0	0.683672	0.66515	0	.	.	4.54	-9.07	0.00619	-0.033000	0.12196	0.036000	0.13800	-0.316000	0.05924	0.001000	0.13787	0.096000	0.22607	0.002000	0.04165	0.2556:0.442:0.0:0.3024	8.168	0.30395	988	0.01987	.	.	.	.	.	rs116515695	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012614	0.015152	0.010870	0.000000	0.000000	0.000000	0.024540	0.015152	0.08333	779.83	58	chr4	8228326	.	C	T	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.565;DP=267;ExcessHet=0;FS=2.913;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.053;SOR=1.349	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	5	0	1	0
chr4	8232023	8232023	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2770G:p.M924V,SH3TC1:NM_018986:exon13:c.A2998G:p.M1000V	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0076	0.00439297	0.0075	0.0020	0.0104	0.0001	0.0015	0.0099	0.0088	0.0054	0.0074126	1146	154602	rs146877451	0.0093	0.0093	0.0094	0.0093	0.0147	0.0092	0.0092	0.0122	0.0113	0.0019	0.0110	0.0044	0.0001	0.0024	0.0147	0.0105	0.0088	0.0060	0.0079	0.0079	0.0081	0.0077	0.0169	0.0075	0.0074	0.0152	0.0146	0.0020	0.0022	0.0169	0.0075	0	0.0024	0.0102	0.0112	0.0095	0.0050	1.0	0.00964	T	0.545	0.09588	T	0.001	0.07471	B	0.006	0.12133	B	0.869057	0.07164	N	1.059180	1	0.08975	N	0.885	0.21608	L	-0.9	0.74896	T	-0.59	0.17624	N	0.32	0.36043	-1.0194	0.23910	T	0.133	0.44524	T	10	0.005713284	0.00127	T	.	.	.	0.126	0.34673	.	.	0.407767136052	0.40396	0.19877772153993326	0.19794	0.0269784543744	0.02755	0.347499221563	0.17553	T	0.001755	0.01176	T	-0.421108	0.01683	T	-0.365993	0.37356	T	0.00322139377332797	0.00034	T	0.693931	0.30359	T	0.10272062	0.24275	0.06241503	0.12208	0.10272062	0.24274	0.06241503	0.12208	-6.655	0.51471	T	.	.	0.083	0.09143	B	.	.	-0.771593	0.01164	0.055	0.61548457451166827	0.06736	0.08101	0.14071	N	AEFBCI	0.107787	0.21463	N	-1.03118552391547	0.07962	0.3716787	-1.01041299243722	0.09555	0.4760869	0.999664706146666	0.41534	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	-0.534	0.11289	-0.658000	0.05429	-0.211000	0.10853	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.2259:0.3133:0.3324:0.1283	2.062	0.03375	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.010870	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	1161.83	33	chr4	8232023	.	A	G	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=328;ExcessHet=0;FS=0.65;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=1.33;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	5	0	1	0
chr4	8367059	8367059	C	T	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375790:exon15:c.G1675A:p.A559T,ACOX3:NM_001375785:exon17:c.G1918A:p.A640T,ACOX3:NM_001375786:exon17:c.G1918A:p.A640T,ACOX3:NM_001375789:exon17:c.G1720A:p.A574T,ACOX3:NM_001375783:exon18:c.G2005A:p.A669T,ACOX3:NM_001375784:exon18:c.G1933A:p.A645T,ACOX3:NM_003501:exon18:c.G2005A:p.A669T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00425307875779	.	.	3.297e-05	0	0	0	0.0003	1.5e-05	0	6.056e-05	2.59e-05	4	154602	rs771356481	1.368e-05	1.368e-05	8.168e-06	1.925e-05	6.956e-05	8.94e-06	7.26e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	9.366e-05	0	7.195e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.595	0.08079	T	0.058	0.22967	B	0.053	0.25678	B	0.584200	0.05553	N	1.251400	1	0.18198	N	1.475	0.37068	L	1.04	0.40218	T	-1.73	0.41046	N	0.118	0.20925	-1.0267	0.21527	T	0.059	0.24871	T	10	0.21910763	0.38570	T	0.004253	0.10278	T	0.032	0.07718	0.499	0.58991	0.128392430309	0.12331	0.34470597230209804	0.34383	0.103848864121	0.11752	0.455417811871	0.32684	T	0.133133	0.46364	T	-0.365461	0.03831	T	-0.581208	0.14438	T	0.0285035613924265	0.01762	T	0.727427	0.34191	T	0.03644631	0.04484	0.062370732	0.12191	0.03644631	0.04484	0.062370732	0.12190	-7.724	0.59174	D	.	.	0.075	0.05800	B	.;.	.;.	0.586597	0.09550	6.326	0.75784662774577449	0.11209	0.01668	0.05338	N	AEFDBI	0.033272	0.03914	N	-1.22119263104172	0.04693	0.2123688	-1.23034952171528	0.05428	0.2586283	0.0159405663828798	0.12772	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.16	-0.392	0.11822	0.114000	0.15353	-1.628000	0.05030	-0.223000	0.07921	0.014000	0.18986	0.000000	0.08366	0.077000	0.17074	0.2564:0.4904:0.0:0.2532	4.932	0.13273	982	0.03397	Acyl-CoA oxidase, C-terminal;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1203.83	33	chr4	8367059	.	C	T	1203.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=310;ExcessHet=0;FS=1.532;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.229;SOR=0.883	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1214,0,1609	5	0	1	0
chr4	8392341	8392341	T	G	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375789:exon10:c.A1007C:p.Y336S,ACOX3:NM_001101667:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375783:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375784:exon11:c.A1220C:p.Y407S,ACOX3:NM_001375785:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375786:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375787:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375788:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375790:exon11:c.A1292C:p.Y431S,ACOX3:NM_003501:exon11:c.A1292C:p.Y431S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.0897392710392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760192603	2.097e-06	2.736e-06	2.78e-06	1.407e-06	0.0002	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	3.398e-05	0	6.569e-06	6.567e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.001635	0.38439	N	0.222293	1	0.81001	D	4.11	0.97368	H	-1.13	0.77719	T	-8.7	0.97637	D	0.942	0.95956	0.726	0.93496	D	0.742	0.91177	D	10	0.9531937	0.94665	D	0.089739	0.75385	D	0.800	0.93464	0.813	0.92857	0.975632822895	0.97536	0.921681359029239	0.92144	0.589955309425	0.54475	0.711280882359	0.68778	T	0.819331	0.95565	D	0.427034	0.91381	D	0.375629	0.91275	D	0.999425768852234	0.97351	D	0.957404	0.83962	D	0.6483673	0.75277	0.66440296	0.80326	0.6483673	0.75278	0.66440296	0.80326	-13.242	0.90334	D	.	.	0.885	0.81758	P	.;.;.	.;.;.	4.641863	0.73902	26.1	0.98978964652790213	0.49700	0.52202	0.29075	D	AEFGBHCIJ	0.769713	0.70488	D	0.848924320137188	0.89046	9.813688	0.699765880029145	0.82359	7.747931	1.0	0.98316	0.730579	0.87903	0	0.623108	0.53289	0	0.693117	0.63056	0	0.648885	0.59868	0	.	.	4.14	4.14	0.47821	7.189000	0.77281	5.805000	0.49965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	12.302	0.54199	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1700.06	35	chr4	8392341	.	T	G	1700.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=297;ExcessHet=0.4139;FS=3.708;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.213;SOR=0.628	GT:AD:DP:GQ:PL	0/1:49,32:81:99:731,0,1103	4	0	2	0
chr4	8454788	8454788	T	C	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon6:c.T455C:p.M152T,TRMT44:NM_152544:exon6:c.T1178C:p.M393T	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0076197739081	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778141191	7.525e-06	7.524e-06	2.722e-06	1.238e-05	6.956e-05	4.04e-06	2.95e-06	2.995e-05	2.038e-05	5.974e-05	0	0	0	0	0	1.799e-06	1.656e-05	6.956e-05	1.314e-05	1.313e-05	2.569e-05	0	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.069	0.43913	T	0.013	0.16609	B	0.032	0.22131	B	0.001593	0.38554	U	0.275749	0.99833	0.44783	D	0.845	0.21182	L	1.59	0.28836	T	-4.41	0.77391	D	0.49	0.52651	-1.0770	0.07942	T	0.044	0.18742	T	10	0.22974265	0.39910	T	0.00762	0.20219	T	0.059	0.16972	0.569	0.69167	0.124217242631	0.12060	0.7435193856091533	0.74297	0.0253543603142	0.02589	0.608304858208	0.54076	T	0.032177	0.22374	T	-0.315017	0.07313	T	-0.508748	0.21443	T	0.668940961360931	0.39290	D	0.667233	0.27634	T	0.23186335	0.45964	0.3053017	0.56558	0.23186335	0.45964	0.3053017	0.56557	-9.815	0.76842	D	.	.	0.146	0.34667	B	.;.	.;.	2.480995	0.31997	18.91	0.94347045403851559	0.24693	0.81636	0.41000	D	AEFBCI	0.200039	0.32680	N	-0.269886082772917	0.30317	1.689301	-0.110677741437791	0.34958	2.01688	0.999741703392266	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.33	3.14	0.35196	2.532000	0.45318	-0.215000	0.10817	0.663000	0.56723	1.000000	0.71638	0.001000	0.17328	0.973000	0.55318	0.0:0.0862:0.0:0.9138	9.370	0.37412	950	0.11238	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1430.83	33	chr4	8454788	.	T	C	1430.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.203;DP=301;ExcessHet=0;FS=2.372;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.493;SOR=0.509	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1441,0,1182	5	0	1	0
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.08333	2552.83	48	chr4	8612035	.	G	T	2552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.705;DP=484;ExcessHet=0;FS=0.429;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.076;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	5	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1225.83	127	chr4	8614433	.	C	G	1225.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=563;ExcessHet=0;FS=0.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.271;SOR=0.827	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	5	0	1	0
chr4	9176034	9176034	G	C	exonic	FAM90A26	.	nonsynonymous SNV	FAM90A26:NM_001358418:exon4:c.G1262C:p.G421A	.	1317	203	0	2	0	4	0.0097561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00108803294706	.	.	0.0003	0	0	0	0	0.0006	0	0	2.59e-05	4	154602	rs776320879	0.0003	0.0001	0.0003	0.0003	0.0070	0.0003	0.0002	0.0024	0.0014	0	0	0	0	0	0.0070	0.0003	0.0012	9.145e-05	0.0004	0.0004	0.0007	0.0002	0.0009	0.0002	0.0002	0.0005	0.0004	0	0	0	0	0	0	0	0.0009	0	0	0.557	0.06441	T	0.606	0.07791	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-0.25	0.11008	N	0.108	0.09349	-0.9446	0.41879	T	0.012	0.04463	T	5	0.041347623	0.02782	T	0.001088	0.01287	T	0.052	0.14661	0.085	0.00830	0.0482279557977	0.04254	0.007686523222246897	0.00734	.	.	.	.	.	.	.	.	-0.389137	0.02725	T	-0.796745	0.01985	T	0.0282236134301884	0.01721	T	0.484552	0.14745	T	0.08914007	0.20816	0.099526316	0.23766	0.08914007	0.20816	0.099526316	0.23765	-3.497	0.16389	T	.	.	0.103	0.18456	B	.	.	1.468459	0.18922	14.00	0.97001827149851538	0.31945	0.00454	0.02197	N	AEFI	0.031438	0.03364	N	-0.87999827796498	0.11319	0.5456134	-1.07998750467219	0.08094	0.3965235	2.08968640715857E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.581	0.581	0.16590	0.319000	0.19270	.	.	0.315000	0.19243	0.013000	0.18845	0.001000	0.17328	0.010000	0.09038	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	697.68	.	chr4	9176034	.	G	C	697.68	.	AC=4;AF=1;AN=4;DP=22;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=54.23;QD=34.88;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,6:6:18:215,18,0	0	2	0	4
chr4	9226196	9226196	T	C	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.T1301C:p.L434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.641643718126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.866e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.19	0.61577	M	-0.34	0.68474	T	-2.87	0.60348	D	0.197	0.21839	-0.7133	0.59790	T	0.290	0.66192	T	6	0.3692076	0.53342	T	0.641644	0.96947	D	0.190	0.46781	0.625	0.76028	0.527857482506	0.52433	0.02471896554853487	0.02422	.	.	0.516608834267	0.41148	T	0.133248	0.46381	T	-0.103552	0.35835	T	-0.386522	0.34959	T	0.871669411659241	0.52155	D	0.60344	0.22635	T	0.45899668	0.64608	0.5500927	0.73987	0.45899668	0.64609	0.5500927	0.73988	-3.854	0.21614	T	.	.	0.614	0.69464	P	.;.	.;.	2.721329	0.35600	19.94	0.97754351763411462	0.35763	0.02728	0.07395	N	AEFI	0.037036	0.05029	N	-0.494470663192851	0.22260	1.187427	-0.718359202488126	0.16503	0.8733725	1.1000463852551E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.742000	0.25884	.	.	0.292000	0.18798	0.915000	0.31815	0.158000	0.23238	0.132000	0.19645	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.25	38.0	2	chr4	9226196	.	T	C	38.0	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=19;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	2
chr4	9268709	9268709	G	A	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1091A:p.S364N,USP17L22:NM_001256863:exon1:c.G1091A:p.S364N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00723463084694	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460789286	0.0012	0.0021	0.0012	0.0013	0.0128	0.0011	0.0011	0.0104	0.0095	0.0128	0.0007	0.0002	0.0004	0.0015	0.0008	0.0013	0.0009	0.0003	0.0005	0.0014	0.0004	0.0007	0.0021	0.0002	0.0001	0.0004	0.0002	0.0021	0	0	0	0	0.0016	0	0.0002	0	0	0.676	0.04482	T	1.0	0.01155	T	0.018	0.17786	B	0.034	0.22546	B	0.028604	0.25577	N	0.364420	0.998951	0.21765	N	0.78	0.19475	N	1.47	0.31987	T	0.06	0.06253	N	0.074	0.04913	-0.9921	0.32063	T	0.035	0.15074	T	9	0.051680446	0.05086	T	0.007235	0.19171	T	0.043	0.11576	0.464	0.53404	0.0806252709748	0.07271	0.008370571817142807	0.00801	.	.	0.590677976608	0.51590	T	0.003401	0.02809	T	-0.371603	0.03514	T	-0.771558	0.02717	T	0.0729970623782887	0.09065	T	0.280472	0.04884	T	0.08599369	0.19972	0.09672608	0.22994	0.08599369	0.19972	0.09672608	0.22994	-1.941	0.02966	T	.	.	0.114	0.22825	B	.;.	.;.	1.081240	0.14642	11.20	0.87434924989059604	0.17225	0.03001	0.07865	N	AEFI	0.036354	0.04831	N	-1.05018183717855	0.07584	0.3527977	-1.06525833149353	0.08392	0.4124188	1.2986059717826E-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	0.091000	0.14885	.	.	-0.659000	0.04360	0.997000	0.40164	0.000000	0.08366	0.046000	0.14843	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	.	.	.	.	.	.	.	.	0.08333	39.41	6	chr4	9268709	.	G	A	39.41	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.812;DP=32;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=20.34;MQRankSum=1.18;QD=4.38;ReadPosRankSum=1.51;SOR=0.283	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,81	5	0	1	0
chr4	10598015	10598015	C	T	exonic	CLNK	.	nonsynonymous SNV	CLNK:NM_052964:exon3:c.G46A:p.D16N	.	432	1078	10	2	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0014	0.00219649	0.0048	0.0003	0.0089	0	0.0004	0.0036	0.0031	0.0112	0.0016429	254	154602	rs201145337	0.0019	0.0020	0.0017	0.0021	0.0278	0.0019	0.0018	0.0242	0.0229	0.0008	0.0023	0.0074	5.111e-05	0.0004	0.0278	0.0014	0.0022	0.0074	0.0014	0.0014	0.0012	0.0016	0.0072	0.0013	0.0012	0.0054	0.0047	0.0005	0	0.0025	0.0046	0	0	0.0442	0.0013	0.0038	0.0072	0.0	0.91255	D	0.251	0.23638	T	0.999	0.77913	D	0.78	0.57283	P	0.119925	0.19055	N	0.487681	1	0.23916	N	1.59	0.40313	L	1.63	0.28002	T	-1.07	0.27876	N	0.416	0.45615	-1.0901	0.05515	T	0.082	0.32324	T	10	0.0063123703	0.00142	T	.	.	.	0.054	0.15330	.	.	0.0611884634855	0.05136	0.0551522907027918	0.05456	0.0329596082575	0.03447	0.422912150621	0.28238	T	0.086577	0.37756	T	-0.550291	0.00290	T	-0.558806	0.16489	T	0.0295003129332043	0.01913	T	0.733327	0.34901	T	0.1628871	0.36395	0.14189479	0.33776	0.1628871	0.36395	0.14189479	0.33775	-2.983	0.09999	T	.	.	0.107	0.19958	B	.;.	.;.	3.189912	0.43335	21.7	0.99779149443322734	0.86606	0.12091	0.17054	N	AEFBI	0.099526	0.20032	N	0.00353873356617966	0.42017	2.523709	-0.0833447560354896	0.36078	2.095069	0.999868022696912	0.44398	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	2.83	0.32150	0.688000	0.25103	0.755000	0.21268	0.599000	0.40250	0.399000	0.26162	0.192000	0.23504	0.837000	0.39485	0.1633:0.5205:0.3161:0.0	8.423	0.31873	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018649	0.030303	0.009511	0.058824	0.100000	0.008621	0.003049	0.000000	0.1667	1607.04	58	chr4	10598015	.	C	T	1607.04	.	AC=2;AF=0.167;AN=12;DP=234;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.71;SOR=0.914	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1331	5	1	0	0
chr4	13602410	13602410	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4490G:p.Q1497R	.	428	1063	29	2	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0069	0.00658946	0.0105	0.0016	0.0023	0	0.0135	0.0117	0.0133	0.0215	0.0099805	1543	154602	rs61995956	0.0095	0.0095	0.0091	0.0099	0.0220	0.0094	0.0093	0.0211	0.0208	0.0011	0.0025	0.0016	7.557e-05	0.0120	0.0108	0.0096	0.0081	0.0220	0.0068	0.0068	0.0064	0.0073	0.0226	0.0065	0.0063	0.0192	0.0179	0.0015	0.0011	0.0032	0.0014	0	0.0143	0.0102	0.0094	0.0076	0.0226	0.004	0.65419	D	0.046	0.49120	D	0.608	0.39540	P	0.156	0.34472	B	0.618964	0.10796	N	0.801023	1	0.08975	N	2.36	0.67893	M	3.14	0.07920	T	-1.47	0.35991	N	0.043	0.01577	-0.9586	0.39442	T	0.008	0.02720	T	10	0.003915727	0.00075	T	.	.	.	0.028	0.06331	.	.	.	.	0.15328428292832674	0.15250	0.05194464885	0.05714	0.293053716421	0.09369	T	0.022478	0.17323	T	-0.566169	0.00233	T	-0.569782	0.15470	T	0.0101450160726192	0.00137	T	0.474053	0.14146	T	0.19912675	0.41840	0.14007954	0.33402	0.19912675	0.41840	0.14007954	0.33401	-3.313	0.13906	T	.	.	0.097	0.15788	B	.	.	0.400505	0.07718	4.396	0.98039770082843836	0.37782	0.15683	0.19031	N	AEFGBCI	0.034002	0.04137	N	-0.683719391818305	0.16486	0.8403416	-0.753245090606846	0.15643	0.8237233	0.998625092751285	0.37330	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.66	0.30672	0.428000	0.21114	0.273000	0.16680	0.665000	0.62972	0.004000	0.16614	0.062000	0.22056	0.024000	0.12247	0.0:0.0782:0.3034:0.6184	6.438	0.21037	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.018939	0.08333	1886.83	34	chr4	13602410	.	T	C	1886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=409;ExcessHet=0;FS=3.308;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.036;SOR=0.997	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr4	15962825	15962825	A	C	exonic	FGFBP2	.	nonsynonymous SNV	FGFBP2:NM_031950:exon1:c.T305G:p.L102R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00444264343976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.952	0.54136	P	0.642	0.52168	P	0.007298	0.31484	U	0.205916	0.966517	0.38535	D	0.695	0.17993	N	2.61	0.13095	T	-0.62	0.18248	N	0.262	0.29659	-1.0775	0.07841	T	0.029	0.12629	T	10	0.22810087	0.39706	T	0.004443	0.10875	T	0.075	0.21907	0.492	0.57890	0.394230963961	0.39037	0.3877776643350561	0.38692	0.534368724879	0.50844	0.391091763973	0.23823	T	0.002925	0.02319	T	-0.21792	0.18278	T	-0.550804	0.17248	T	0.517883896827698	0.33288	D	0.340966	0.07383	T	0.29639804	0.52580	0.26942056	0.52822	0.29639804	0.52579	0.26942056	0.52821	-2.04	0.03335	T	.	.	0.096	0.15251	B	.	.	1.064053	0.14459	11.03	0.99289134351600106	0.58184	0.42985	0.26998	N	AEFDBCI	0.072409	0.14449	N	-0.209608910064621	0.32740	1.849764	-0.338202456258111	0.26876	1.487431	0.999860269250834	0.44398	0.553676	0.25195	0	0.588015	0.36545	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	2.72	2.72	0.31179	2.181000	0.42176	1.194000	0.24787	0.740000	0.86194	0.947000	0.32937	0.004000	0.18990	0.039000	0.14166	0.7626:0.2374:0.0:0.0	6.848	0.23181	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.83	49	chr4	15962825	.	A	C	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.564;DP=339;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.588;SOR=0.869	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,119,1396	5	0	1	0
chr4	20524124	20524124	G	A	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon14:c.G1397A:p.R466H,SLIT2:NM_001289136:exon14:c.G1385A:p.R462H,SLIT2:NM_004787:exon14:c.G1385A:p.R462H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	0.0764689840989	.	.	1.658e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs769078226	1.642e-05	1.71e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	6.511e-05	4.449e-05	0.0001	0	0	0.0002	0	0	8.993e-06	0	4.637e-05	1.973e-05	2.627e-05	0	4.038e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.046	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.94	0.52218	M	-1.46	0.81150	T	-4.54	0.78472	D	0.813	0.83781	0.254	0.86805	D	0.636	0.87270	D	10	0.8284818	0.82018	D	0.076469	0.72539	D	0.619	0.85196	0.478	0.55663	0.824376104927	0.82271	0.5146724863792764	0.51390	1.16391528366	0.79565	0.89388602972	0.95734	D	0.430284	0.77880	T	0.261628	0.79681	D	0.15352	0.80406	D	0.941605925559998	0.61501	D	0.996967	0.98830	D	0.6123164	0.73352	0.6756727	0.80955	0.6123164	0.73353	0.6756727	0.80956	-9.757	0.74609	D	.	.	0.959	0.90664	P	.;.;.;.;.	.;.;.;.;.	5.756851	0.93408	33	0.9996019660503509	0.99994	0.99067	0.90742	D	AEFBI	0.916858	0.88364	D	0.876334915742293	0.90554	10.45645	0.899154990832932	0.95535	13.71607	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	10.003000	0.99689	11.933000	0.99945	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.337	0.98749	852	0.35056	.;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal|Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1192.83	91	chr4	20524124	.	G	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.858;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.997;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1231	5	0	1	0
chr4	20983901	20983901	C	T	exonic	KCNIP4	.	nonsynonymous SNV	KCNIP4:NM_001363504:exon1:c.G25A:p.E9K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.36118	B	0.107	0.31211	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2516489	0.42508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013963	0.11978	T	.	.	.	.	.	.	.	.	.	0.90031	0.65351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.54876	B	.	.	3.948648	0.57831	23.9	0.95144898585954685	0.26270	0.95272	0.64079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999986606045	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.166187	0.04126	0	0.977379	0.81017	6.17	6.17	0.99707	6.066000	0.70822	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.879	0.99870	886	0.28090	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	38.6	4	chr4	20983901	.	C	T	38.6	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.3;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	3
chr4	24799925	24799925	T	A	exonic	SOD3	.	nonsynonymous SNV	SOD3:NM_003102:exon2:c.T404A:p.L135Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.970909903495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.312	0.19599	T	0.031	0.20130	B	0.028	0.21332	B	0.797306	0.06748	N	1.104920	1	0.08975	N	1.29	0.32370	L	-6.07	0.99513	D	-2.03	0.46673	N	0.097	0.07811	0.911	0.95833	D	0.923	0.97459	D	10	0.32099342	0.49468	T	0.97091	0.99825	D	0.392	0.70764	0.511	0.60846	0.786127256617	0.78414	0.5325198572119996	0.53176	1.52937882776	0.87560	0.479658126831	0.36009	T	0.526358	0.83528	D	0.0889987	0.63076	D	-0.109936	0.62617	T	0.192119932019835	0.19968	T	0.842416	0.51891	T	0.46205315	0.64798	0.27311248	0.53228	0.46205315	0.64799	0.27311248	0.53227	-5.0	0.36840	T	0.1360181212343942	0.14837	0.075	0.05317	B	.	.	2.605194	0.33824	19.45	0.91406386223593628	0.20673	0.10027	0.15644	N	AEFDBCI	0.157605	0.28314	N	-0.571150046554807	0.19825	1.040637	-0.496346534072965	0.22254	1.207849	0.999005646353719	0.38186	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.75	1.78	0.23918	1.146000	0.31201	-0.917000	0.06933	0.494000	0.22454	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.136:0.0:0.1238:0.7401	8.471	0.32146	946	0.12043	Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	582.83	42	chr4	24799925	.	T	A	582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=275;ExcessHet=0;FS=1.953;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=-0.185;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,25:79:99:593,0,1383	5	0	1	0
chr4	36229139	36229139	G	C	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C348G:p.S116R	.	430	1045	44	3	0	50	0.0233645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0031	0.00399361	0.0063	0.0010	0.0010	0	0.0074	0.0058	0.0154	0.0179	0.0058925	911	154602	rs34482185	0.0060	0.0060	0.0054	0.0067	0.0184	0.0059	0.0059	0.0176	0.0173	0.0008	0.0016	0.0134	2.519e-05	0.0095	0.0092	0.0053	0.0064	0.0184	0.0046	0.0046	0.0044	0.0048	0.0156	0.0043	0.0042	0.0127	0.0117	0.0007	0	0.0014	0.0161	0	0.0128	0.0034	0.0055	0.0047	0.0156	0.016	0.51853	D	0.29	0.21011	T	0.475	0.36638	P	0.188	0.36237	B	0.152104	0.17933	N	0.570963	1	0.08975	N	2.125	0.59049	M	-0.16	0.65378	T	-0.85	0.23156	N	0.199	0.21969	-0.9897	0.32677	T	0.104	0.38243	T	10	0.0038110316	0.00072	T	.	.	.	0.086	0.25016	0.116	0.02439	0.388495093706	0.38465	0.2546789361809776	0.25381	0.0264438352101	0.02702	0.278621405363	0.07301	T	0.010713	0.09649	T	-0.50069	0.00567	T	-0.477046	0.24761	T	0.00423517355016059	0.00045	T	0.608739	0.23025	T	0.09569906	0.22528	0.13272984	0.31843	0.09569906	0.22527	0.13272984	0.31842	-5.549	0.42324	T	.	.	0.140	0.30765	B	.	.	0.661489	0.10298	7.031	0.97686457425309436	0.35346	0.14229	0.18292	N	AEFGBI	0.059383	0.11212	N	-0.491741756843137	0.22351	1.192846	-0.539032563047357	0.21097	1.139682	0.999906336411245	0.45458	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.6	3.86	0.43689	0.504000	0.22335	0.387000	0.17845	0.672000	0.70159	0.007000	0.17678	0.000000	0.08366	0.018000	0.11154	0.1604:0.0:0.8396:0.0	9.748	0.39629	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.045455	0.08333	1094.83	35	chr4	36229139	.	G	C	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.555;DP=265;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.12;SOR=0.465	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr4	38774857	38774857	G	T	exonic	TLR10	.	stopgain	TLR10:NM_001017388:exon2:c.C734A:p.S245X,TLR10:NM_001195106:exon3:c.C734A:p.S245X,TLR10:NM_001195107:exon3:c.C734A:p.S245X,TLR10:NM_001195108:exon3:c.C692A:p.S231X,TLR10:NM_030956:exon4:c.C734A:p.S245X	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0004	0	0.0004	0	0	0.0004	0.0011	0.0012	0.0003493	54	154602	rs187892716	0.0003	0.0003	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.048e-05	0.0006	0.0023	0	0	0.0035	0.0002	0.0008	0.0016	0.0004	0.0004	0.0004	0.0005	0.0018	0.0004	0.0003	0.0012	0.0011	4.813e-05	0	0.0018	0.0032	0	0	0	0.0002	0.0028	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.165341	0.17536	N	0.463445	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.768	0.82157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0752676	0.61482	D	0.299962	0.88197	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.;Recessive;Recessive	High;.;High;.;High;High	7.117175	0.96162	35	0.99199074229592954	0.55231	0.30967	0.24218	N	AEFGBCI	0.122026	0.23697	N	0.203936541478802	0.51391	3.320599	-0.101107918503222	0.35345	2.043836	0.9998227151903	0.43622	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	3.96	0.45097	1.864000	0.39107	2.919000	0.35553	0.618000	0.50648	0.015000	0.19116	0.191000	0.23496	0.109000	0.18697	0.1279:0.139:0.733:0.0	8.449	0.32024	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1179.83	33	chr4	38774857	.	G	T	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=504;ExcessHet=0;FS=1.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=2.17;SOR=0.879	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	5	0	1	0
chr4	38932352	38932352	G	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350631:exon10:c.G820T:p.D274Y,FAM114A1:NM_001350633:exon10:c.G1060T:p.D354Y,FAM114A1:NM_001350634:exon10:c.G847T:p.D283Y,FAM114A1:NM_001330764:exon11:c.G820T:p.D274Y,FAM114A1:NM_001350632:exon11:c.G1435T:p.D479Y,FAM114A1:NM_001375792:exon11:c.G1441T:p.D481Y,FAM114A1:NM_001375793:exon11:c.G1441T:p.D481Y,FAM114A1:NM_138389:exon12:c.G1441T:p.D481Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0142470509207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780185025	2.083e-06	2.052e-06	1.382e-06	2.793e-06	1.807e-06	5.6e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	1.683e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.038	0.53072	D	0.005	0.12996	B	0.016	0.17743	B	0.000350	0.45440	N	0.276159	0.999855	0.49910	D	3.065	0.87014	M	1.84	0.24656	T	-4.36	0.76980	D	0.481	0.52297	-1.0806	0.07233	T	0.075	0.30148	T	10	0.32276887	0.49623	T	0.014247	0.34240	T	0.181	0.45247	0.317	0.29419	0.574670332726	0.57135	0.41298846237944803	0.41214	0.093399900812	0.10551	0.543095469475	0.44882	T	0.177412	0.52771	T	-0.0385898	0.46159	T	-0.293208	0.45439	T	0.965999603271484	0.67442	D	0.837416	0.50983	T	0.43408233	0.63019	0.3775716	0.62854	0.43408233	0.63019	0.3775716	0.62854	-9.436	0.70461	D	.	.	0.146	0.32104	B	.;.	.;.	4.118413	0.61538	24.3	0.98979350273405553	0.49700	0.99327	0.94549	D	AEFBI	0.870908	0.79207	D	0.182739378663024	0.50372	3.228	0.292492521919656	0.55099	3.673437	0.996918909997946	0.35113	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.42	4.57	0.55860	5.932000	0.69838	9.840000	0.81918	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8603:0.1397	15.519	0.75581	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	376.83	36	chr4	38932352	.	G	T	376.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.795;DP=216;ExcessHet=0;FS=1.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=1.41;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1075	5	0	1	0
chr4	39103467	39103467	C	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.C1298T:p.T433I,KLHL5:NM_001171654:exon7:c.C1058T:p.T353I,KLHL5:NM_015990:exon7:c.C1481T:p.T494I,KLHL5:NM_001007075:exon8:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0171060478813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.18956	T	0.302	0.27414	T	0.099	0.25639	B	0.034	0.25434	B	0.000004	0.62929	D	0.139015	0.999995	0.58761	D	1.845	0.48678	L	-1.17	0.78199	T	-2.01	0.46337	N	0.493	0.54584	-0.4495	0.70417	T	0.407	0.75635	T	10	0.4312203	0.57503	T	0.017106	0.38673	T	0.391	0.70684	0.491	0.57732	0.820100026833	0.81840	0.3631764824442859	0.36231	1.03285227811	0.75478	0.845786809921	0.88977	D	0.391451	0.75137	T	0.125139	0.66884	D	-0.0580228	0.66470	T	0.713013164387373	0.41348	D	0.583442	0.38541	T	0.1350033	0.31347	0.20949835	0.45297	0.1350033	0.31347	0.20949835	0.45296	-6.397	0.49486	T	.	.	0.128	0.31906	B	.;.;.;.;.	.;.;.;.;.	3.265757	0.44684	22.0	0.97563225588543845	0.34637	0.86498	0.45790	D	AEFDGBHCI	0.595444	0.58999	D	0.112146592274767	0.47030	2.934403	0.269017039635714	0.53740	3.541396	0.999999945661135	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	5.42	0.78666	3.951000	0.56392	7.621000	0.62310	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.600	0.95551	512	0.75040	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	588.83	33	chr4	39103467	.	C	T	588.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.061;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.839;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	5	0	1	0
chr4	41661472	41661472	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001112720:exon8:c.G1436A:p.G479E,LIMCH1:NM_001330674:exon8:c.G1436A:p.G479E,LIMCH1:NM_001112719:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330793:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330982:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330983:exon9:c.G1472A:p.G491E,LIMCH1:NM_001330786:exon11:c.G1457A:p.G486E,LIMCH1:NM_001289122:exon13:c.G1898A:p.G633E,LIMCH1:NM_001289124:exon13:c.G1421A:p.G474E,LIMCH1:NM_001330791:exon13:c.G1898A:p.G633E,LIMCH1:NM_001330792:exon13:c.G1898A:p.G633E,LIMCH1:NM_001112717:exon14:c.G1934A:p.G645E,LIMCH1:NM_001112718:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330784:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330787:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330788:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330789:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330790:exon14:c.G1934A:p.G645E,LIMCH1:NM_014988:exon14:c.G1934A:p.G645E,LIMCH1:NM_001330672:exon19:c.G3089A:p.G1030E	.	437	1075	10	0	0	10	0.00462963	.	.	.	2359435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.017278060795	0.0002	0.000998403	0.0007	0	0.0015	0	0	0.0005	0	0.0023	0.0006145	95	154602	rs139738687	0.0004	0.0005	0.0004	0.0005	0.0120	0.0004	0.0004	0.0097	0.0089	0.0007	0.0011	0.0003	0	0	0.0120	0.0003	0.0009	0.0019	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0007	7.256e-05	0	0.0013	0.0009	0	0	0.0034	0.0004	0.0029	0.0017	1.0	0.03134	T	1.0	0.01155	T	0.0	0.19866	B	0.005	0.25116	B	0.475741	0.04952	N	1.268860	1	0.08975	N	0.55	0.14455	N	1.03	0.41058	T	-0.84	0.36385	N	0.133	0.17691	-1.0348	0.18920	T	0.072	0.29098	T	10	0.005301237	0.00116	T	0.017278	0.38914	T	0.045	0.12272	.	.	0.273495378476	0.26946	0.17602910183137407	0.17521	0.199855231726	0.22388	0.236144483089	0.02453	T	0.001999	0.15591	T	-0.506419	0.00526	T	-0.506997	0.21623	T	0.00419244470011947	0.00045	T	0.867613	0.56877	D	0.05348158	0.10128	0.07243641	0.15627	0.05348158	0.10127	0.07243641	0.15626	-2.241	0.04958	T	.	.	0.072	0.06942	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.085417	0.04903	1.485	0.49634637687878252	0.04244	0.32322	0.24557	N	AEFGBHCI	0.059624	0.11274	N	-1.15439357667363	0.05708	0.2609212	-1.16725399291273	0.06463	0.3112156	0.992672551104467	0.32927	0.696267	0.57585	0	0.600433	0.49495	0	0.67347	0.61138	0	0.629945	0.49285	0	.	.	5.05	-1.35	0.08638	0.689000	0.25118	0.985000	0.23152	-0.148000	0.12190	0.387000	0.26063	0.410000	0.24754	0.001000	0.02609	0.3495:0.0:0.5064:0.1441	5.266	0.14911	688	0.59122	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012601	0.000000	0.024457	0.014620	0.050000	0.000000	0.003067	0.003788	0.08333	782.83	33	chr4	41661472	.	G	A	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.792;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.457;SOR=0.776	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1376	5	0	1	0
chr4	44447949	44447949	G	A	exonic	KCTD8	.	nonsynonymous SNV	KCTD8:NM_198353:exon1:c.C575T:p.A192V	.	.	.	.	.	.	.	.	.	.	.	2774423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.103996634851	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs778853493	2.377e-05	2.736e-05	2.483e-05	2.267e-05	0.0002	1.72e-05	1.472e-05	1.715e-05	1.457e-05	0	6.781e-05	0	6.5e-05	0	0.0002	2.466e-05	1.795e-05	0	3.294e-05	3.283e-05	5.155e-05	1.348e-05	4.83e-05	1.263e-05	8e-06	1.173e-05	6.25e-06	4.83e-05	0	0	0	0	0	0	4.417e-05	0	0	0.254	0.16903	T	0.099	0.38891	T	0.958	0.54977	D	0.211	0.37346	B	0.831144	0.09105	N	0.892858	1	0.08975	N	0.895	0.22405	L	1.03	0.40469	T	-0.8	0.22078	N	0.256	0.28965	-1.0461	0.15505	T	0.041	0.17700	T	10	0.12948436	0.24638	T	0.103997	0.77834	D	0.153	0.40148	0.201	0.11522	0.246773566709	0.24272	0.3136985051789969	0.31282	.	.	0.742384672165	0.73323	T	0.009841	0.08928	T	-0.207607	0.19718	T	-0.53599	0.18692	T	0.78186959028244	0.45167	D	0.458254	0.13193	T	0.035216514	0.04101	0.06305479	0.12434	0.035216514	0.04101	0.06305479	0.12434	-4.829	0.34928	T	.	.	0.075	0.05317	B	.	.	2.163154	0.27562	17.50	0.90669692930650769	0.19920	0.26500	0.23011	N	AEFDBCI	0.058678	0.11025	N	-1.12042510639486	0.06280	0.2886882	-1.17717325620545	0.06293	0.3024426	0.988219418808279	0.31445	0.437478	0.07067	0	0.563428	0.19063	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.37	-0.475	0.11501	2.108000	0.41478	6.258000	0.55339	-0.353000	0.05553	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.2242:0.129:0.6468:0.0	7.339	0.25799	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	982.83	36	chr4	44447949	.	G	A	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=257;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.363;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1365	5	0	1	0
chr4	47546793	47546793	T	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon10:c.T1566A:p.F522L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0065	0.00838658	0.0018	0.0204	0.0008	0	0	0	0.0011	0	0.0017594	272	154602	rs6843325	0.0005	0.0005	0.0006	0.0004	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0010	0	0	0	0.0013	3.597e-06	0.0014	4.638e-05	0.0059	0.0059	0.0059	0.0058	0.0204	0.0055	0.0054	0.0192	0.0188	0.0204	0	0.0024	0	0	0	0	1.47e-05	0.0043	0	0.473	0.08408	T	0.361	0.16914	T	0.0	0.02946	B	0.005	0.11217	B	0.788122	0.06695	N	1.093230	1	0.08975	N	-0.695	0.01866	N	1.23	0.36872	T	-0.06	0.07882	N	0.043	0.02559	-1.0137	0.25752	T	0.018	0.07659	T	10	0.0031024814	0.00052	T	.	.	.	0.016	0.02506	0.237	0.16760	0.253205268125	0.24938	0.29415769646728623	0.29328	0.155473890706	0.17544	0.303469955921	0.10921	T	7.58E-4	0.00354	T	-0.606929	0.00132	T	-0.629651	0.10441	T	0.000582770705061211	0.00005	T	0.283072	0.09067	T	0.024108423	0.01211	0.023924347	0.00407	0.024108423	0.01211	0.023924347	0.00406	-1.888	0.02785	T	.	.	0.275	0.57542	B	.;.	.;.	-0.378926	0.02292	0.240	0.34470656016239992	0.02110	0.10528	0.16010	N	AEFDBI	0.067394	0.13246	N	-1.22422668598607	0.04651	0.2103499	-1.30027276146182	0.04427	0.2088104	0.955245607703688	0.28177	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.02	-4.01	0.03775	-0.541000	0.06187	-2.131000	0.04167	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.160000	0.20649	0.126:0.2727:0.1201:0.4812	1.858	0.02991	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1770.83	190	chr4	47546793	.	T	A	1770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.838;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.358;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	5	0	1	0
chr4	47680192	47680192	C	T	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_006587:exon8:c.G1081A:p.V361M	Preeclampsia/eclampsia 5	0	1521	1	0	0	1	0.000328623	.	.	.	609542	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.739	0.219309888457	0.0022	0.000798722	0.0005	0.0051	0.0003	0	0	3.014e-05	0	6.079e-05	0.0004334	67	154602	rs139499566	0.0002	0.0002	0.0002	0.0002	0.0054	0.0002	0.0002	0.0048	0.0045	0.0054	0.0003	0	0	0	0.0007	1.799e-05	0.0009	1.159e-05	0.0016	0.0016	0.0015	0.0017	0.0054	0.0014	0.0013	0.0048	0.0046	0.0054	0	0.0008	0	0	0	0	1.47e-05	0.0019	0	0.048	0.40068	D	0.002	0.79402	D	0.991	0.64070	D	0.932	0.66722	D	0.000209	0.47681	N	0.140928	0.998467	0.81001	D	1.575	0.39704	L	-3.93	0.96111	D	-1.27	0.32185	N	0.269	0.35620	0.827	0.94745	D	0.871	0.95698	D	10	0.025980592	0.00776	T	0.21931	0.87701	D	0.739	0.90939	.	.	0.934982959784	0.93431	0.7529571024289268	0.75242	0.218754404323	0.24414	0.505893170834	0.39648	T	0.346496	0.71475	T	-0.222183	0.17697	T	-0.0898698	0.64172	T	0.0160930042265956	0.00387	T	0.964603	0.86885	D	0.054355342	0.10418	0.09926295	0.23695	0.060518194	0.12426	0.09534015	0.22608	-6.218	0.48069	T	.	.	0.14	0.35435	B	.;.;.	.;.;.	4.246759	0.64428	24.7	0.9989898574661974	0.97124	0.82313	0.41559	D	AEFBI	0.375440	0.45997	N	0.584410338086317	0.72203	5.768628	0.562336347521064	0.72259	5.781796	0.0172842011339967	0.12933	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.93	5.09	0.68647	3.716000	0.54633	4.014000	0.41189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.927:0.0:0.073	14.164	0.64997	516	0.74704	.;.;.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2117.83	183	chr4	47680192	.	C	T	2117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.542;DP=374;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.07;SOR=0.759	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	5	0	1	0
chr4	47896558	47896558	G	A	exonic	NFXL1	.	nonsynonymous SNV	NFXL1:NM_001278623:exon10:c.C1294T:p.R432C,NFXL1:NM_001278624:exon10:c.C1294T:p.R432C,NFXL1:NM_152995:exon10:c.C1294T:p.R432C	.	430	1084	8	0	0	8	0.00367647	.	.	.	3199169	NFXL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.368	0.0972091449998	0.0035	0.000199681	0.0025	0.0006	0.0011	0	0.0009	0.0042	0	0.0002	0.0024126	373	154602	rs35139099	0.0034	0.0034	0.0035	0.0033	0.0042	0.0033	0.0033	0.0041	0.0040	0.0004	0.0017	0.0004	0	0.0008	0.0017	0.0042	0.0028	0.0004	0.0023	0.0023	0.0026	0.0020	0.0040	0.0021	0.0020	0.0036	0.0035	0.0005	0	0.0021	0.0006	0	0.0013	0	0.0040	0.0024	0.0006	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	3.185	0.88900	M	0.14	0.60854	T	-6.76	0.93509	D	0.865	0.86191	-0.2152	0.77279	T	0.335	0.70207	T	10	0.07701364	0.12103	T	0.097209	0.76734	D	0.368	0.68757	.	.	0.962926417621	0.96253	0.5571280347882771	0.55639	1.20430854673	0.80639	0.770583868027	0.77513	T	0.102055	0.40942	T	-0.113301	0.34225	T	0.0643299	0.74532	D	0.0961802798851535	0.11931	T	0.976302	0.91743	D	0.7472992	0.80711	0.6190657	0.77815	0.7472992	0.80713	0.6190657	0.77816	-11.47	0.82173	D	.	.	0.688	0.77353	P	.;.;.	.;.;.	5.864635	0.93869	33	0.99933035821039484	0.99488	0.93910	0.59546	D	AEFBI	0.463620	0.51246	N	0.774008674939467	0.84455	8.293078	0.692239276961129	0.81789	7.60954	0.0456698043794123	0.14661	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	4.22	0.49153	4.196000	0.58203	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.077:0.0:0.7776:0.1455	8.875	0.34495	373	0.84140	Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	508.83	42	chr4	47896558	.	G	A	508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.187;DP=258;ExcessHet=0;FS=3.642;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.293;SOR=0.521	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr4	48035952	48035952	T	C	exonic	NIPAL1	.	nonsynonymous SNV	NIPAL1:NM_207330:exon6:c.T1013C:p.I338T	.	.	.	.	.	.	.	.	.	.	.	2328206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0332381953104	.	.	4.942e-05	0	0	0.0001	0	5.994e-05	0	6.056e-05	4.53e-05	7	154602	rs775014256	5.063e-05	5.062e-05	5.173e-05	4.951e-05	0.0002	4.126e-05	3.779e-05	9.795e-05	7.841e-05	5.975e-05	0	0	2.519e-05	0	0	5.036e-05	1.656e-05	0.0002	3.941e-05	3.94e-05	2.569e-05	5.378e-05	7.348e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.348e-05	0	0	0.038	0.42783	D	0.1	0.38742	T	0.345	0.33546	B	0.247	0.38902	B	0.000190	0.48115	D	0.145945	0.987868	0.40663	D	1.4	0.35362	L	-2.7	0.90509	D	-3.54	0.68651	D	0.178	0.19190	0.165	0.85310	D	0.654	0.87977	D	9	0.29677218	0.47240	T	0.033238	0.54840	D	0.453	0.75279	.	.	0.296679040009	0.29266	0.4941284440358793	0.49333	0.147803884116	0.16675	0.545851349831	0.45272	T	0.576935	0.86085	D	-0.12995	0.31503	T	-0.124117	0.61462	T	0.0904277718729602	0.11269	T	0.754025	0.37642	T	0.29145738	0.52127	0.27233192	0.53143	0.29145738	0.52127	0.27233192	0.53142	-7.003	0.54055	T	.	.	0.054	0.00297	B	.	.	3.480350	0.48598	22.6	0.96518779610608929	0.30108	0.94935	0.62843	D	AEFGBI	0.423392	0.48899	N	0.105672039291961	0.46726	2.908715	0.207801948254664	0.50279	3.221714	0.999999984182775	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	4.073000	0.57290	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.0674:0.0:0.9326	12.277	0.54060	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1798.83	33	chr4	48035952	.	T	C	1798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.6;DP=356;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.019;SOR=0.94	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1809,0,2143	5	0	1	0
chr4	48110554	48110554	T	C	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon5:c.A430G:p.N144D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0896346304053	0.0002	.	6.94e-05	0	0	0	0	0.0001	0	6.283e-05	7.76e-05	12	154602	rs139881249	6.172e-05	6.293e-05	6.005e-05	6.34e-05	0.0003	5.107e-05	4.727e-05	7.302e-05	5.174e-05	2.993e-05	0.0002	0	0	0	0.0003	5.589e-05	0.0002	9.304e-05	0.0001	0.0001	0.0001	9.397e-05	0.0002	6.507e-05	5.319e-05	0.0001	8.878e-05	0	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.182	0.21801	T	0.3	0.20357	T	0.023	0.18885	B	0.027	0.21085	B	0.004552	0.33627	N	0.247625	0.942685	0.37381	D	1.535	0.38868	L	-2.99	0.92108	D	-2.65	0.56787	D	0.202	0.22357	-0.0324	0.81579	T	0.573	0.84549	D	10	0.1676079	0.31265	T	0.089635	0.75365	D	0.414	0.72479	.	.	0.944427701651	0.94384	0.5710607962803224	0.57034	0.190360239417	0.21353	0.740981578827	0.73118	T	0.233207	0.59995	T	-0.153281	0.27799	T	-0.198275	0.54810	T	0.0402485057711601	0.03736	T	0.668933	0.27772	T	0.20539308	0.42680	0.23669781	0.48948	0.20539308	0.42679	0.23669781	0.48947	-5.423	0.41140	T	.	.	0.168	0.36966	B	.	.	4.026256	0.59503	24.1	0.99291581524740646	0.58290	0.85478	0.44614	D	AEFDBI	0.513939	0.54152	D	-0.0997486342721405	0.37404	2.17561	0.0880822517319222	0.43947	2.68607	0.999962017816673	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	2.408000	0.44227	7.632000	0.62779	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	11.081	0.47277	429	0.80881	Tyrosine-protein kinase TXK, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1079.83	30	chr4	48110554	.	T	C	1079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.601;SOR=0.684	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1090,0,540	5	0	1	0
chr4	48491008	48491010	CGA	-	exonic	ZAR1	.	nonframeshift deletion	ZAR1:NM_175619:exon1:c.717_719del:p.D242del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.246e-07	1.163e-05	0	1.695e-06	1.004e-06	0	0	.	.	0	0	0	0	0	0	1.004e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	40.79	25	chr4	48491007	.	CCGA	C	40.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.051;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.69;SOR=0.18	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,599	5	0	1	0
chr4	48540671	48540671	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon46:c.A5977G:p.T1993A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00404465790344	.	.	8.295e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754880798	1.71e-05	1.71e-05	1.906e-05	1.513e-05	0.0002	1.174e-05	9.92e-06	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.069e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.352	0.12226	T	0.546	0.09555	T	0.0	0.02946	B	0.001	0.04355	B	0.045147	0.23566	N	0.509340	1	0.81001	D	1.265	0.31966	L	1.97	0.22067	T	-0.41	0.14000	N	0.221	0.24883	-0.9931	0.31801	T	0.027	0.11529	T	10	0.08074024	0.13140	T	0.004045	0.09618	T	0.034	0.08419	0.229	0.15556	0.21174354426	0.20776	0.24354827723945732	0.24268	0.250559950922	0.27623	0.373635292053	0.21352	T	0.01277	0.11161	T	-0.227216	0.17018	T	-0.54867	0.17453	T	0.0553281465118592	0.06413	T	0.775222	0.40690	T	0.021253377	0.00718	0.022767855	0.00296	0.021253377	0.00718	0.022767855	0.00296	-4.006	0.23893	T	.	.	0.060	0.00876	B	.;.	.;.	1.090395	0.14740	11.29	0.44113217514059877	0.03368	0.86309	0.45564	D	AEFBI	0.144326	0.26726	N	-0.915343281695183	0.10483	0.5011496	-0.828052506269543	0.13816	0.7187755	0.986145196903269	0.31012	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	-1.43	0.08418	1.309000	0.33145	0.470000	0.18703	-0.133000	0.13014	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.0:0.1266:0.3605:0.5129	7.215	0.25133	131	0.94738	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1284.83	33	chr4	48540671	.	T	C	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=280;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-2.401;SOR=0.929	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1295,0,1270	5	0	1	0
chr4	48576043	48576043	C	T	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon24:c.G2708A:p.S903N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0494439697129	8.4e-05	.	1.692e-05	0	0	0	0	3.026e-05	0	0	1.29e-05	2	154602	rs372864812	3.434e-06	3.42e-06	0	6.903e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.25154	T	0.228	0.25286	T	0.0	0.22227	B	0.003	0.28043	B	0.001788	0.37998	U	0.248331	0.72503	0.81001	D	1.495	0.37439	L	0.42	0.56937	T	-1.33	0.33197	N	0.243	0.31590	-0.8479	0.52113	T	0.192	0.54492	T	10	0.1485379	0.28127	T	0.049444	0.63815	D	0.152	0.39956	.	.	0.376790727695	0.37294	0.4287136341751686	0.42788	0.237969757966	0.26348	0.593066573143	0.51927	T	0.037108	0.24353	T	-0.238521	0.15538	T	-0.51675	0.20625	T	0.251357346773148	0.22934	T	0.905509	0.67118	D	0.16027993	0.35958	0.12941508	0.31119	0.16027993	0.35958	0.12941508	0.31118	-4.214	0.26954	T	.	.	0.125	0.26607	B	.;.;.	.;.;.	3.498957	0.48948	22.7	0.95050721520800119	0.26067	0.95332	0.64308	D	AEFDBCIJ	0.691381	0.65140	D	-0.0759106935766193	0.38452	2.252256	0.0316032856639839	0.41192	2.470584	0.99999999715671	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	4.680000	0.61346	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	18.861	0.92242	140	0.94439	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	369.83	33	chr4	48576043	.	C	T	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.022;DP=197;ExcessHet=0;FS=3.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.113;SOR=1.55	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1053	5	0	1	0
chr4	51994693	51994693	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C2329T:p.L777F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.012066255091	0.0003	.	3.316e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs200652349	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0003	4.38e-06	3.46e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.656e-05	0	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.018	0.59732	D	0.983	0.60381	D	0.799	0.58136	P	0.430340	0.12756	N	0.682746	1	0.08975	N	1.905	0.50856	L	0.77	0.49642	T	-1.9	0.44284	N	0.034	0.00942	-1.0092	0.27167	T	0.132	0.44366	T	10	0.090920895	0.15881	T	0.012066	0.30309	T	0.105	0.29889	.	.	0.279776271856	0.27574	0.012651325422131094	0.01224	0.055173266616	0.06106	0.250904977322	0.03864	T	0.027702	0.20231	T	-0.531375	0.00377	T	-0.592408	0.13458	T	0.151099875569344	0.17191	T	0.470553	0.13922	T	0.06913149	0.15121	0.08592009	0.19871	0.06913149	0.15121	0.08592009	0.19871	-4.244	0.27384	T	.	.	0.116	0.23219	B	.	.	1.125354	0.15115	11.60	0.99638365929389316	0.76510	0.02642	0.07243	N	AEFBI	0.068269	0.13459	N	-0.309259150342308	0.28795	1.591288	-0.499178193777773	0.22176	1.20325	0.00334965432497167	0.10067	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.67	1.76	0.23776	0.098000	0.15027	-0.053000	0.12521	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0976:0.1753:0.5463:0.1808	3.076	0.05870	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2610.83	207	chr4	51994693	.	G	A	2610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.373;DP=390;ExcessHet=0;FS=1.084;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.844;SOR=0.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1138	5	0	1	0
chr4	51994810	51994810	C	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.G2212A:p.E738K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00284065792155	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs199780048	1.847e-05	1.847e-05	2.314e-05	1.375e-05	2.519e-05	1.265e-05	1.084e-05	1.46e-05	1.227e-05	0	0	0	2.519e-05	0	0	2.158e-05	3.311e-05	0	3.942e-05	3.94e-05	5.138e-05	2.69e-05	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	9.416e-05	0	5.88e-05	0	0	0.474	0.08384	T	0.556	0.09236	T	0.062	0.23277	B	0.011	0.15521	B	0.324370	0.04093	N	1.455540	1	0.08975	N	1.04	0.26193	L	1.88	0.23884	T	-0.28	0.11547	N	0.046	0.01825	-1.0212	0.23324	T	0.028	0.12103	T	10	0.040305316	0.02589	T	0.002841	0.05956	T	0.001	0.00016	0.108	0.01928	0.0716867268079	0.06686	0.01869492291980193	0.01823	0.0274467866167	0.02809	0.236933469772	0.02521	T	0.003879	0.03292	T	-0.363731	0.03923	T	-0.760251	0.03104	T	0.0297267530113459	0.01947	T	0.460354	0.13329	T	0.027397504	0.01926	0.044077985	0.05631	0.027397504	0.01925	0.044077985	0.05630	-3.724	0.19673	T	.	.	0.070	0.03661	B	.	.	-0.603864	0.01561	0.103	0.13574801377532345	0.00272	0.00451	0.02188	N	AEFBI	0.031032	0.03236	N	-1.54102507135579	0.01587	0.06937356	-1.60036519672941	0.01653	0.07504044	0.0210091275270399	0.13311	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.0	-3.85	0.03964	-1.873000	0.01729	-5.778000	0.01599	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1969:0.4198:0.3833	5.606	0.16661	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2990.83	38	chr4	51994810	.	C	T	2990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.051;DP=410;ExcessHet=0;FS=1.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.065;SOR=0.746	GT:AD:DP:GQ:PL	0/1:111,118:229:99:3001,0,2766	5	0	1	0
chr4	51995454	51995454	G	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.C1568A:p.A523E	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0618831402051	.	0.000199681	0.0004	0	0	0	0	0	0	0.0026	0.0002911	45	154602	rs573477178	0.0002	0.0002	7.759e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	8.993e-07	0.0002	0.0026	6.569e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	2.407e-05	0	0	0	0	0	0	0	0	0.0019	0.008	0.58626	D	0.038	0.51421	D	0.745	0.43117	P	0.265	0.39681	B	0.141883	0.18262	N	0.464413	1	0.08975	N	1.545	0.39105	L	-1.48	0.81150	T	-2.22	0.49846	N	0.198	0.21839	-0.7697	0.56874	T	0.257	0.62699	T	10	0.00684762	0.00156	T	0.061883	0.68475	D	0.247	0.55478	0.432	0.48171	0.141422826196	0.13715	0.21716891052361245	0.21632	0.041373833253	0.04440	0.270082950592	0.06152	T	0.035542	0.23758	T	-0.350477	0.04698	T	-0.280827	0.46720	T	0.0587370527906906	0.06967	T	0.389261	0.09643	T	0.24026535	0.46928	0.19073656	0.42494	0.24026535	0.46928	0.19073656	0.42493	-3.843	0.21448	T	.	.	0.2	0.42361	B	.	.	1.294876	0.16958	12.87	0.93641397437980445	0.23520	0.09818	0.15487	N	AEFDBI	0.071046	0.14126	N	-0.804007625703936	0.13208	0.6490386	-0.931840472468407	0.11344	0.5773867	0.7700275760245	0.23656	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.21	0.413	0.15619	0.427000	0.21098	1.942000	0.29835	0.618000	0.50648	0.000000	0.06391	0.009000	0.19889	0.001000	0.02609	0.2931:0.164:0.5428:0.0	4.756	0.12459	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2288.83	38	chr4	51995454	.	G	T	2288.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.082;DP=345;ExcessHet=0;FS=1.915;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.632;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1114	5	0	1	0
chr4	52024115	52024115	G	A	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon6:c.C799T:p.R267C	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	267280	not_specified|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy|Qualitative_or_quantitative_defects_of_beta-sarcoglycan|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015|MONDO:MONDO:0016142,MedGen:C2930900,Orphanet:207063|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.745	.	7.7e-05	0.00439297	0.0022	0	0.0005	0	0	0.0002	0	0.0150	0.0019663	304	154602	rs200761715	0.0011	0.0011	0.0006	0.0015	0.0150	0.0010	0.0010	0.0144	0.0141	0	0.0003	3.826e-05	0.0002	3.744e-05	0.0047	0.0001	0.0012	0.0150	0.0006	0.0006	0.0003	0.0008	0.0137	0.0005	0.0004	0.0110	0.0101	2.406e-05	0	0.0004	0.0003	0	0	0.0034	0.0001	0	0.0137	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.68	0.95282	D	-3.94	0.73378	D	0.706	0.70966	0.933	0.96152	D	0.896	0.96565	D	10	0.012774318	0.00273	T	.	.	.	0.745	0.91198	.	.	0.945944769335	0.94538	0.6819642386616119	0.68135	0.420273735843	0.42557	0.611253023148	0.54493	T	0.918554	0.98524	D	0.0409665	0.57172	T	0.298393	0.88124	D	0.104909141530984	0.12888	T	0.958704	0.84427	D	0.36517072	0.58226	0.27850297	0.53811	0.38927615	0.59981	0.34736726	0.60391	-7.414	0.57003	T	0.4473518777209099	0.53177	0.312	0.53929	B	.	.	5.424723	0.90741	31	0.9991215684914504	0.98095	0.99090	0.91078	D	AEFBI	0.913807	0.87629	D	0.542346259648222	0.69618	5.382525	0.432744076959233	0.63616	4.599009	0.999999999987702	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.904000	0.86152	11.827000	0.97409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0:0.0:1.0:0.0	18.618	0.91264	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.034091	0.08333	942.83	93	chr4	52024115	.	G	A	942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.86;DP=274;ExcessHet=0;FS=4.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.108;SOR=1.246	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	5	0	1	0
chr4	52060500	52060500	A	T	exonic	SPATA18	.	nonsynonymous SNV	SPATA18:NM_001297608:exon2:c.A169T:p.I57F,SPATA18:NM_145263:exon2:c.A169T:p.I57F	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0171174013961	0.0068	0.00239617	0.0052	0.0017	0.0026	0	0.0029	0.0077	0.0077	0.0021	0.0053816	832	154602	rs146015590	0.0076	0.0076	0.0077	0.0075	0.0092	0.0075	0.0074	0.0090	0.0090	0.0013	0.0029	0.0013	0	0.0024	0.0005	0.0092	0.0056	0.0024	0.0050	0.0050	0.0055	0.0046	0.0087	0.0047	0.0046	0.0081	0.0079	0.0014	0.0197	0.0032	0.0009	0	0.0025	0	0.0087	0.0033	0.0031	0.014	0.53172	D	0.016	0.60972	D	0.99	0.63424	D	0.858	0.61127	P	0.000002	0.62929	D	0.098567	0.99926	0.46490	D	2.87	0.83286	M	0.98	0.42122	T	-2.82	0.59545	D	0.853	0.85343	-0.8129	0.54374	T	0.156	0.48721	T	10	0.017401904	0.00371	T	0.017117	0.38687	T	0.317	0.63904	.	.	0.388334884743	0.38444	0.6302318328864036	0.62957	0.78974161505	0.65715	0.59891474247	0.52751	T	0.304914	0.67719	T	-0.203736	0.20267	T	-0.0550412	0.66677	D	0.0297796752782821	0.01956	T	0.842016	0.59782	T	0.37560984	0.58996	0.28469527	0.54469	0.37560984	0.58996	0.28469527	0.54468	-4.2	0.26751	T	.	.	0.370	0.68648	A	.;.	.;.	3.489462	0.48768	22.7	0.98757675301599745	0.45755	0.80657	0.40238	D	AEFDBI	0.221062	0.34574	N	0.425698752429121	0.62840	4.50666	0.361547811398894	0.59205	4.096573	0.640846857418353	0.22052	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.9	3.72	0.41857	3.393000	0.52286	6.195000	0.54818	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9006:0.0:0.0994:0.0	7.195	0.25021	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1344.83	33	chr4	52060500	.	A	T	1344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.505;DP=271;ExcessHet=0;FS=3.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.51;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1302	5	0	1	0
chr4	54738513	54738513	A	G	exonic	KIT	.	nonsynonymous SNV	KIT:NM_000222:exon21:c.A2887G:p.T963A,KIT:NM_001093772:exon21:c.A2875G:p.T959A,KIT:NM_001385284:exon21:c.A2890G:p.T964A,KIT:NM_001385285:exon21:c.A2884G:p.T962A,KIT:NM_001385286:exon21:c.A2872G:p.T958A,KIT:NM_001385288:exon21:c.A2878G:p.T960A,KIT:NM_001385290:exon21:c.A2887G:p.T963A,KIT:NM_001385292:exon21:c.A2875G:p.T959A	Gastrointestinal stromal tumor, familial, Autosomal dominant, Isolated cases;Germ cell tumors, Somatic mutation;Leukemia, acute myeloid, Autosomal dominant;Mast cell disease, Autosomal dominant;Piebaldism, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	394339	Hereditary_cancer-predisposing_syndrome|not_provided|Piebaldism|Malignant_tumor_of_testis|Gastrointestinal_stromal_tumor|Mastocytosis|Acute_myeloid_leukemia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001044,Human_Phenotype_Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080024,OMIM:172800,Orphanet:2884|MONDO:MONDO:0005447,MedGen:C0153594|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human_Phenotype_Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orphanet:98292|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.327	0.0354633582667	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs773709702	1.231e-05	1.231e-05	1.361e-05	1.1e-05	0.0010	7.7e-06	6.35e-06	0.0005	0.0003	2.987e-05	4.472e-05	0	0	0	0.0010	4.496e-06	6.624e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.44694	D	0.075	0.43344	T	0.002	0.13644	B	0.015	0.17295	B	0.000030	0.55875	D	0.075634	0.996268	0.24273	N	0.695	0.17993	N	-1.05	0.76690	T	-0.41	0.14000	N	0.074	0.04790	-0.7816	0.56212	T	0.237	0.60379	T	10	0.1251162	0.23772	T	0.035463	0.56363	D	0.327	0.64926	0.081	0.00694	0.735296232879	0.73292	0.34952301130219093	0.34866	0.4403143847	0.44044	0.360971271992	0.19527	T	0.240127	0.60839	T	-0.167561	0.25604	T	-0.41482	0.31671	T	0.42531755566597	0.29887	T	0.876412	0.58869	D	0.054195482	0.10366	0.077825055	0.17375	0.054195482	0.10365	0.077825055	0.17375	-3.623	0.18818	T	.	.	0.065	0.01960	B	.;.	.;.	3.530734	0.49532	22.8	0.98891169780776234	0.48001	0.97957	0.78421	D	AEFBI	0.842887	0.75996	D	-0.179405413022095	0.33993	1.934995	0.0310938148432786	0.41166	2.468729	0.998000412220913	0.36301	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.72	5.72	0.89380	6.125000	0.71359	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	1.0:0.0:0.0:0.0	14.251	0.65566	896	0.25515	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	537.83	33	chr4	54738513	.	A	G	537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.75;DP=256;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	5	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.1667	2449.03	75	chr4	55965812	.	AAAG	A	2449.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.903;DP=330;ExcessHet=0.4139;FS=4.036;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.514;SOR=0.44	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	4	0	2	0
chr4	56911023	56911023	G	A	exonic	REST	.	nonsynonymous SNV	REST:NM_001193508:exon2:c.G385A:p.G129S,REST:NM_001363453:exon2:c.G385A:p.G129S,REST:NM_005612:exon2:c.G385A:p.G129S	.	.	.	.	.	.	.	.	.	.	.	3185708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00327922272734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.188	0.30143	T	0.003	0.11197	B	0.008	0.13708	B	0.243503	0.15660	N	0.624316	0.999994	0.08975	N	0.345	0.11182	N	3.27	0.06602	T	0.83	0.01787	N	0.079	0.07811	-0.9840	0.34069	T	0.016	0.06664	T	10	0.074982494	0.11530	T	0.003279	0.07268	T	0.017	0.02790	0.298	0.26362	0.24933006939	0.24537	0.21812488196502086	0.21728	0.255728341841	0.28159	0.318803995848	0.13240	T	0.006249	0.37538	T	-0.343368	0.05158	T	-0.731001	0.04282	T	0.0514121815663393	0.05746	T	0.820618	0.47957	T	0.055186056	0.10690	0.07922382	0.17815	0.055186056	0.10690	0.07922382	0.17815	-2.969	0.09851	T	.	.	0.092	0.13503	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.494052	0.19214	14.15	0.97096360753996747	0.32349	0.84604	0.43688	D	AEFDBI	0.127731	0.24521	N	-0.675066884671733	0.16734	0.8551689	-0.541831177305057	0.21022	1.135345	0.999724643607526	0.42220	0.722319	0.85440	0	0.685571	0.66316	0	0.26897	0.05253	2	0.735409	0.98432	0	.	.	6.02	1.87	0.24559	1.028000	0.29734	2.001000	0.30122	-0.153000	0.12021	0.015000	0.19116	0.766000	0.26662	0.598000	0.31338	0.0:0.0987:0.5673:0.334	12.879	0.57398	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1254.83	33	chr4	56911023	.	G	A	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=269;ExcessHet=0;FS=5.495;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.021;SOR=0.307	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr4	65669679	65669679	G	T	exonic	EPHA5	.	nonsynonymous SNV	EPHA5:NM_001281765:exon1:c.C64A:p.P22T,EPHA5:NM_001281766:exon1:c.C64A:p.P22T,EPHA5:NM_001281767:exon1:c.C64A:p.P22T,EPHA5:NM_004439:exon1:c.C64A:p.P22T,EPHA5:NM_182472:exon1:c.C64A:p.P22T	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0370798578078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.331	0.21478	T	0.001	0.07471	B	0.003	0.10090	B	0.091205	0.20337	N	0.360102	1	0.08975	N	0	0.06538	N	-0.57	0.71895	T	-0.94	0.25118	N	0.347	0.38848	-1.0406	0.17132	T	0.131	0.44188	T	10	0.10370302	0.19079	T	0.03708	0.57392	D	0.074	0.21613	0.117	0.02508	0.695720267042	0.69309	0.25924828935521343	0.25838	0.630853255338	0.57057	0.782312273979	0.79277	T	0.07654	0.35442	T	-0.114624	0.34007	T	-0.402426	0.33103	T	0.0906344254905335	0.11293	T	0.839416	0.51368	T	0.05260058	0.09834	0.050977416	0.08110	0.05260058	0.09834	0.050977416	0.08110	-4.454	0.30876	T	.	.	0.070	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	2.602130	0.33775	19.44	0.99326252581676788	0.59584	0.25272	0.22649	N	AEFDBCI	0.039155	0.05648	N	-0.929881315016334	0.10148	0.483578	-0.916849936584017	0.11697	0.597485	0.999528622668903	0.40175	0.455138	0.09556	0	0.59043	0.45803	0	0.608004	0.38603	0	0.56751	0.32155	0	.	.	4.83	-0.156	0.12736	0.863000	0.27567	-0.141000	0.11517	0.672000	0.70159	0.341000	0.25683	0.000000	0.08366	0.403000	0.26849	0.2829:0.316:0.4011:0.0	4.293	0.10333	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	378.83	34	chr4	65669679	.	G	T	378.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.462;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.472;SOR=0.892	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	5	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R,GNRHR:NM_001012763:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	31062	Isolated_congenital_hypogonadotropic_hypogonadism|Hypogonadotropic_hypogonadism|not_provided|Inborn_genetic_diseases|GNRHR-related_disorder|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Gonadotropin_deficiency	MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.000000	0.012195	0.007576	0.08333	1804.83	35	chr4	67754019	.	T	C	1804.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.038;DP=336;ExcessHet=0;FS=2.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.76;SOR=0.99	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr4	67838318	67838318	C	T	exonic	TMPRSS11D	.	nonsynonymous SNV	TMPRSS11D:NM_004262:exon5:c.G329A:p.S110N	.	.	.	.	.	.	.	.	.	.	.	2220262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00433602589435	0.0002	.	0.0004	0.0003	0.0002	0	0	0.0006	0	6.959e-05	0.0003881	60	154602	rs150193405	0.0005	0.0005	0.0006	0.0005	0.0011	0.0005	0.0005	0.0008	0.0007	0.0001	0.0011	0.0015	0	0	0.0005	0.0006	0.0007	0.0001	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0014	0.0012	0.0001	0	0.0019	0.0020	0	0	0.0034	0.0006	0.0005	0	0.54	0.06802	T	0.942	0.02677	T	0.002	0.09854	B	0.002	0.06944	B	0.484081	0.04998	N	1.285860	1	0.18198	N	0.01	0.07948	N	1.13	0.38556	T	0.54	0.02764	N	0.099	0.08088	-1.0037	0.28844	T	0.046	0.19839	T	10	0.0114963055	0.00251	T	0.004336	0.10529	T	0.070	0.20419	.	.	0.209622950755	0.20551	0.11829633960670972	0.11756	0.0823727007547	0.09290	0.296529889107	0.09885	T	0.137345	0.47023	T	-0.685049	0.00045	T	-0.807243	0.01728	T	0.00245692180095249	0.00025	T	0.451355	0.12777	T	0.0352107	0.04101	0.070360705	0.14939	0.0352107	0.04101	0.070360705	0.14939	-2.963	0.09788	T	.	.	0.066	0.02145	B	.	.	-1.575525	0.00253	0.004	0.78193376023072347	0.12195	0.00285	0.01534	N	AEFDI	0.043363	0.06847	N	-1.49377509572114	0.01893	0.08308839	-1.53987485771567	0.02046	0.09355061	0.00120775713896647	0.08334	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	-6.25	0.01863	-4.027000	0.00351	-5.670000	0.01636	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.2448:0.1034:0.6519	10.580	0.44438	867	0.32089	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1053.83	35	chr4	67838318	.	C	T	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.526;DP=245;ExcessHet=0;FS=1.052;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.95;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	5	0	1	0
chr4	67914591	67914591	G	T	exonic	TMPRSS11A	.	stopgain	TMPRSS11A:NM_001114387:exon9:c.C1092A:p.C364X,TMPRSS11A:NM_182606:exon9:c.C1101A:p.C367X	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323869758	1.506e-05	1.573e-05	9.534e-06	2.064e-05	0.0003	9.86e-06	8.42e-06	6.096e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	1.439e-05	4.97e-05	0	1.315e-05	1.314e-05	0	2.693e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584296	0.97078	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.985910	0.98301	39	0.99148012839156097	0.53737	0.96159	0.67803	D	AEFDI	0.332079	0.43160	N	0.616179262987259	0.74198	6.092008	0.477757652272265	0.66520	4.962609	0.00224476959564251	0.09262	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.93	4.21	0.48984	1.339000	0.33489	4.533000	0.43733	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.2345:0.0:0.7655:0.0	8.699	0.33476	897	0.25382	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	981.83	34	chr4	67914591	.	G	T	981.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.119;DP=258;ExcessHet=0;FS=4.638;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.515;SOR=0.342	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1160	5	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.008772	0.000000	0.034483	0.006098	0.003788	0.08333	1212.83	36	chr4	68064747	.	G	A	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.367;DP=277;ExcessHet=0;FS=2.833;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.05;SOR=0.451	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr4	68064906	68064906	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C794T:p.A265V	.	.	.	.	.	.	.	.	.	.	.	2201479	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0141443781494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002449715	4.105e-06	4.104e-06	6.808e-06	1.375e-06	2.238e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.238e-05	0	0	0	0	4.497e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.121638	0.18988	N	0.517185	0.999957	0.19072	N	0.765	0.19305	N	-2.33	0.87910	D	1.05	0.01314	N	0.09	0.06854	-0.8535	0.51725	T	0.327	0.69530	T	10	0.062386453	0.07968	T	0.014144	0.34055	T	0.165	0.42395	0.655	0.79276	0.515430650102	0.51184	0.3551207991011811	0.35426	0.0649570242804	0.07257	0.255322277546	0.04350	T	0.040001	0.25382	T	-0.170694	0.25129	T	-0.400102	0.33372	T	0.0700038583079609	0.08652	T	0.425957	0.11436	T	0.039472826	0.05456	0.07228437	0.15577	0.039472826	0.05456	0.07228437	0.15577	-2.8	0.08184	T	.	.	0.076	0.06114	B	.	.	1.227234	0.16217	12.39	0.82504646046438124	0.14227	0.09832	0.15498	N	AEFI	0.065353	0.12743	N	-0.713857050990377	0.15632	0.7894689	-0.559819856416212	0.20546	1.107405	5.64413152063872E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	3.02	0.33970	0.249000	0.17989	.	.	0.676000	0.76740	0.055000	0.21596	0.933000	0.28592	0.995000	0.73285	0.2776:0.0:0.7224:0.0	7.450	0.26406	932	0.16191	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1021.83	36	chr4	68064906	.	G	A	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.792;DP=262;ExcessHet=0;FS=0.932;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.675;SOR=0.497	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.08333	583.83	34	chr4	68945392	.	A	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=226;ExcessHet=0;FS=3.623;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.086;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	5	0	1	0
chr4	69096588	69096588	G	A	exonic	UGT2B7	.	nonsynonymous SNV	UGT2B7:NM_001074:exon1:c.G68A:p.C23Y,UGT2B7:NM_001330719:exon1:c.G68A:p.C23Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00764518485843	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs758225308	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.76473	D	0.998	0.77913	D	0.91	0.71741	D	0.008382	0.30866	U	0.212566	0.999985	0.18198	N	3.505	0.92816	H	0.22	0.59851	T	-7.93	0.97055	D	0.307	0.37197	-0.6243	0.63810	T	0.369	0.72872	T	9	0.38769707	0.54662	T	0.007645	0.20272	T	0.184	0.45763	0.607	0.73945	0.363356657567	0.35953	0.19520745691601044	0.19437	0.213722745734	0.23893	0.41863232851	0.27649	T	0.590001	0.86704	D	-0.137719	0.30252	T	-0.254072	0.49415	T	0.927849948406219	0.59095	D	0.973503	0.94842	D	0.95871013	0.97150	0.92639863	0.96844	0.95871013	0.97150	0.92639863	0.96845	-10.805	0.78577	D	.	.	0.266	0.58901	B	.;.;.	.;.;.	3.627461	0.51366	23.1	0.90660313755497524	0.19912	0.84525	0.43607	D	AEFDBHCI	0.947238	0.95757	D	0.0879390952401803	0.45902	2.838995	-0.155733462587689	0.33188	1.895885	0.999999979412557	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	2.54	1.59	0.22622	2.977000	0.48988	.	.	0.373000	0.20310	0.296000	0.25288	0.122000	0.22912	0.138000	0.19872	0.0:0.5399:0.46:0.0	9.156	0.36158	676	0.60355	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2165.83	40	chr4	69096588	.	G	A	2165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.076;DP=429;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.11;SOR=0.81	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr4	69480739	69480764	AGTCACATCCAAAGAGTGGTACTGGA	-	exonic	UGT2B4	.	frameshift deletion	UGT2B4:NM_021139:exon6:c.1457_1482del:p.F486Wfs*26,UGT2B4:NM_001297616:exon7:c.1049_1074del:p.F350Wfs*26	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2487.79	33	chr4	69480738	.	CAGTCACATCCAAAGAGTGGTACTGGA	C	2487.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=366;ExcessHet=0;FS=3.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.712;SOR=0.549	GT:AD:DP:GQ:PL	0/1:120,69:189:99:2498,0,4808	5	0	1	0
chr4	70336207	70336207	C	A	exonic	CABS1	.	nonsynonymous SNV	CABS1:NM_033122:exon1:c.C1168A:p.P390T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0235958021861	.	.	8.409e-06	0	0	0	0	1.521e-05	0	0	6.5e-06	1	154602	rs745910463	8.913e-06	9.577e-06	6.821e-06	1.103e-05	0.0003	4.97e-06	3.83e-06	6.123e-05	2.533e-05	0	0	0	0	0	0.0003	7.204e-06	1.662e-05	2.33e-05	6.581e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000901	0.41231	D	0.000000	0.645674	0.30577	N	1.04	0.26193	L	0.82	0.48142	T	-7.2	0.94223	D	0.58	0.60156	-0.7864	0.55938	T	0.175	0.51864	T	10	0.6219182	0.68026	D	0.023596	0.46567	T	0.197	0.47942	0.409	0.44395	0.778042865873	0.77599	0.07058010455134617	0.06995	0.314766253581	0.33761	0.405301183462	0.25806	T	0.034845	0.23485	T	0.0241734	0.54942	T	-0.102423	0.63211	T	0.795338548116297	0.46040	D	0.578142	0.20837	T	0.71109295	0.78667	0.46367738	0.68867	0.71109295	0.78669	0.46367738	0.68867	-2.095	0.03562	T	.	.	0.214	0.44240	B	.	.	3.566476	0.50211	22.9	0.9969527795281885	0.80248	0.67795	0.33563	D	AEFHCI	0.083754	0.16970	N	0.450083581857994	0.64208	4.670218	0.418425386189829	0.62713	4.491434	3.67324175988266E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.84	0.43422	1.911000	0.39567	3.570000	0.39120	0.599000	0.40250	0.997000	0.40164	0.984000	0.30665	0.895000	0.43227	0.0:0.8928:0.0:0.1072	8.068	0.29833	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	.	.	.	.	.	.	.	.	0.08333	933.83	82	chr4	70336207	.	C	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.187;DP=437;ExcessHet=0;FS=5.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.372;SOR=1.451	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	5	0	1	0
chr4	70979150	70979150	C	G	exonic	MOB1B	.	nonsynonymous SNV	MOB1B:NM_173468:exon5:c.C432G:p.F144L,MOB1B:NM_001244766:exon6:c.C447G:p.F149L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.0446643290812	.	0.000199681	8.245e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs537448770	2.19e-05	2.189e-05	2.043e-05	2.339e-05	0.0003	1.585e-05	1.356e-05	0.0003	0.0002	0	0	0	0	0	0.0003	0	0	0.0003	1.314e-05	1.313e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	.	.	.	-5.85	0.88495	D	0.913	0.91505	0.261	0.86925	D	0.567	0.84308	D	9	0.94517875	0.93843	D	0.044664	0.61602	D	0.498	0.78226	0.961	0.99598	0.870820795557	0.86956	0.7943924099786789	0.79392	0.61259746828	0.55850	0.929564833641	0.98963	D	0.369688	0.73436	T	0.223315	0.76090	D	0.413002	0.92526	D	0.985566973686218	0.76521	D	0.90251	0.65969	D	0.8160815	0.84957	0.7030602	0.82499	0.8160815	0.84958	0.7030602	0.82500	-11.728	0.83502	D	.	.	0.999	0.98907	P	.;.	.;.	3.735619	0.53465	23.4	0.99870109964520681	0.94815	0.93327	0.57920	D	AEFGBI	0.382523	0.46437	N	0.69713723295266	0.79444	7.078991	0.58457437081127	0.73834	6.03569	0.997931021417655	0.36211	0.732398	0.92422	0	0.53679	0.11191	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.26	4.42	0.52775	2.024000	0.40670	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8453:0.0:0.1547	10.034	0.41293	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	689.83	33	chr4	70979150	.	C	G	689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.662;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=1.25;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1121	5	0	1	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.08333	3314.83	211	chr4	72283389	.	C	T	3314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.72;DP=389;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.24;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	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	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.08333	913.83	34	chr4	73442372	.	A	C	913.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.91;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.08;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	5	0	1	0
chr4	76367551	76367551	G	-	exonic	CCDC158	.	frameshift deletion	CCDC158:NM_001042784:exon11:c.1573delC:p.R525Gfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3860.03	33	chr4	76367550	.	CG	C	3860.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.296;DP=355;ExcessHet=0.4139;FS=0.514;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0.368;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,57:106:99:0|1:76367550_CG_C:2210,0,1876:76367550	4	0	2	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.39	39	chr4	82485718	.	G	C	32.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.976;DP=209;ExcessHet=0;FS=42.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.924;SOR=5.653	GT:AD:DP:GQ:PL	0/0:24,9:35:2:0,2,332	5	0	1	0
chr4	83455656	83455656	G	C	exonic	HELQ	.	nonsynonymous SNV	HELQ:NM_001297755:exon1:c.C38G:p.S13C,HELQ:NM_001297758:exon1:c.C38G:p.S13C,HELQ:NM_001297759:exon1:c.C38G:p.S13C,HELQ:NM_133636:exon1:c.C38G:p.S13C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0743585569262	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs551500491	2.74e-06	2.736e-06	4.089e-06	1.377e-06	0.0002	6.4e-07	4.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	0	0	1.159e-05	6.569e-06	6.562e-06	1.285e-05	0	2.408e-05	0	0	.	.	2.408e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.055	0.46862	T	0.002	0.09854	B	0.005	0.11217	B	0.400179	0.13135	N	0.690974	1	0.08975	N	1.975	0.53506	M	-0.73	0.77466	T	-1.09	0.31576	N	0.169	0.17966	-0.7630	0.57242	T	0.281	0.65239	T	10	0.052432418	0.05275	T	0.074359	0.72022	D	0.066	0.19193	0.235	0.16457	0.479133204078	0.47542	0.27241316419455025	0.27154	0.102454318034	0.11596	0.561992287636	0.47548	T	0.004071	0.16853	T	-0.107465	0.35187	T	-0.392143	0.34301	T	0.207877114415169	0.20842	T	0.79622	0.43953	T	0.15237086	0.34592	0.11458174	0.27658	0.15237086	0.34592	0.11458174	0.27657	-4.668	0.33015	T	.	.	0.085	0.27161	B	.;.	.;.	3.254971	0.44492	21.9	0.98421283629309853	0.41288	0.08186	0.14147	N	ALL	0.072090	0.14374	N	-0.847912719202969	0.12101	0.5878467	-0.810362596419175	0.14245	0.7433093	0.999999999967911	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.25	2.58	0.30011	0.692000	0.25161	1.483000	0.26835	-0.150000	0.12128	0.235000	0.24695	0.848000	0.27364	0.775000	0.36711	0.0863:0.3214:0.5923:0.0	7.442	0.26358	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1260.83	92	chr4	83455656	.	G	C	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=337;ExcessHet=0;FS=1.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.215;SOR=0.978	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr4	86701574	86701574	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon7:c.G968A:p.R323H,PTPN13:NM_080683:exon7:c.G968A:p.R323H,PTPN13:NM_080684:exon7:c.G968A:p.R323H,PTPN13:NM_080685:exon7:c.G968A:p.R323H	.	.	.	.	.	.	.	.	.	.	.	721100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0052	0.00359425	0.0011	0.0133	0.0004	0	0	2.999e-05	0	0	0.0010414	161	154602	rs115836094	0.0004	0.0004	0.0004	0.0003	0.0139	0.0004	0.0004	0.0129	0.0125	0.0139	0.0007	0	2.519e-05	0	0.0005	1.709e-05	0.0009	4.638e-05	0.0037	0.0037	0.0039	0.0034	0.0129	0.0034	0.0033	0.0120	0.0116	0.0129	0	0.0010	0	0	0	0.0068	0	0.0024	0	0.511	0.16848	T	0.464	0.13792	T	0.002	0.09854	B	0.002	0.06944	B	0.462913	0.04881	N	1.342750	1	0.08975	N	0.615	0.15706	N	1.53	0.30401	T	0.21	0.04776	N	0.027	0.01825	-0.9902	0.32551	T	0.025	0.10821	T	10	0.0035237372	0.00063	T	.	.	.	0.018	0.03083	.	.	0.107399877778	0.10242	0.21089032409385974	0.21005	0.0389498150119	0.04147	0.210750952363	0.00843	T	0.048051	0.27903	T	-0.731171	0.00023	T	-0.810729	0.01649	T	0.00638972431853794	0.00071	T	0.622538	0.23960	T	0.012102889	0.00027	0.02557189	0.00607	0.012102889	0.00027	0.02557189	0.00607	-3.876	0.22948	T	.	.	0.059	0.01512	B	.;.;.;.;.	.;.;.;.;.	-1.043131	0.00712	0.021	0.5818567122804138	0.05936	0.01631	0.05259	N	AEFGBI	0.029380	0.02763	N	-1.52985176523265	0.01656	0.07244402	-1.60448877352242	0.01628	0.07388559	0.780747933648605	0.23838	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	-7.12	0.01384	-0.594000	0.05828	-1.043000	0.06508	-1.528000	0.00996	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.409:0.0:0.4877:0.1032	9.902	0.40523	861	0.33516	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1983.83	153	chr4	86701574	.	G	A	1983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=328;ExcessHet=0;FS=4.77;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.641;SOR=0.92	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	5	0	1	0
chr4	86891498	86891498	T	C	exonic	C4orf36	.	nonsynonymous SNV	C4orf36:NM_001369888:exon2:c.A23G:p.K8R,C4orf36:NM_001369889:exon2:c.A23G:p.K8R,C4orf36:NM_144645:exon2:c.A23G:p.K8R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00471908728785	7.7e-05	.	9.061e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs374528405	5.267e-05	5.267e-05	4.492e-05	6.05e-05	0.0003	4.277e-05	3.953e-05	6.092e-05	4.653e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0003	6.295e-05	1.656e-05	1.159e-05	7.88e-05	7.874e-05	0.0001	4.03e-05	0.0002	4.494e-05	3.51e-05	9.049e-05	7.013e-05	0	0	0	0.0003	0	0	0	0.0002	0	0	0.289	0.15406	T	0.303	0.25362	T	0.087	0.24971	B	0.058	0.26451	B	0.006627	0.31903	N	0.221215	0.987501	0.24510	N	1.445	0.36358	L	1.45	0.32482	T	-1.45	0.35597	N	0.139	0.13769	-1.0305	0.20292	T	0.036	0.15640	T	10	0.0759289	0.11797	T	0.004719	0.11753	T	0.154	0.40340	.	.	0.255270683199	0.25152	0.03257472101330136	0.03205	0.386643288285	0.39955	.	.	.	0.00264	0.02035	T	-0.237871	0.15622	T	-0.315033	0.43118	T	0.0724864676594734	0.08995	T	0.566043	0.20025	T	0.07392217	0.16553	0.07378	0.16069	0.07392217	0.16553	0.07378	0.16069	-3.412	0.15218	T	.	.	0.089	0.12797	B	.;.;.;.	.;.;.;.	2.118243	0.26958	17.30	0.99597484177260553	0.73983	0.46353	0.27741	N	AEFDBCI	0.139514	0.26114	N	-0.577954801343112	0.19615	1.027995	-0.461239459799607	0.23231	1.265798	0.99995585679932	0.48110	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.444512	0.06955	0	.	.	5.17	1.51	0.22094	0.382000	0.20364	0.089000	0.14491	0.665000	0.62972	0.998000	0.41325	0.468000	0.25038	0.917000	0.45243	0.0:0.3025:0.0:0.6975	6.296	0.20293	626	0.65439	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	370.83	50	chr4	86891498	.	T	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.84;SOR=0.616	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr4	87317141	87317141	T	C	exonic	HSD17B13	.	nonsynonymous SNV	HSD17B13:NM_001136230:exon2:c.A293G:p.D98G,HSD17B13:NM_178135:exon3:c.A401G:p.D134G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.229778576208	.	.	0.0002	9.621e-05	0	0	0	0.0003	0	0.0002	0.0002911	45	154602	rs201763274	0.0003	0.0003	0.0003	0.0003	0.0038	0.0003	0.0003	0.0026	0.0022	0.0002	0.0002	0	0	5.616e-05	0.0038	0.0003	0.0006	0.0004	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	9.621e-05	0	0.0001	0	0	0	0.0068	0.0004	0.0019	0.0006	0.003	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.97372	D	0.000058	0.53742	D	0.076120	0.999959	0.52396	D	2.415	0.69758	M	-2.31	0.87750	D	-6.69	0.92736	D	0.659	0.66873	0.691	0.93059	D	0.771	0.92202	D	10	0.8129598	0.80562	D	0.229779	0.88200	D	0.749	0.91371	.	.	0.963170002684	0.96277	0.4611301948576589	0.46031	0.606544782577	0.55501	0.513210296631	0.40671	T	0.386598	0.74772	T	0.0219443	0.54645	T	0.109901	0.77566	D	0.499909609556198	0.32626	T	0.817118	0.51609	T	0.91406256	0.92677	0.87588525	0.93275	0.91406256	0.92678	0.87588525	0.93275	-7.929	0.77139	D	.	.	0.468	0.73863	A	.;.	.;.	4.930394	0.81284	27.5	0.99852085454677741	0.93102	0.94391	0.61016	D	AEFDGCIJ	0.893684	0.83190	D	0.678693803380303	0.78236	6.831131	0.612490416410943	0.75846	6.383358	0.99999999682251	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.596000	0.73995	7.615000	0.62066	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:0.0:1.0	14.713	0.68862	655	0.62421	.;.	.	.	.	.	.	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	0.006546	0.005051	0.010870	0.002924	0.050000	0.000000	0.003049	0.000000	0.08333	1544.83	37	chr4	87317141	.	T	C	1544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.199;DP=284;ExcessHet=0;FS=1.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.737;SOR=0.853	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1555,0,1172	5	0	1	0
chr4	87423002	87423002	C	A	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon1:c.C97A:p.Q33K,NUDT9:NM_024047:exon1:c.C97A:p.Q33K	.	432	1065	23	2	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0157474442518	0.0028	0.00219649	0.0030	0.0008	0.0014	0	0.0006	0.0039	0.0044	0.0043	0.0029172	451	154602	rs146952902	0.0030	0.0030	0.0029	0.0032	0.0210	0.0030	0.0029	0.0179	0.0168	0.0007	0.0017	0.0063	0	0.0006	0.0210	0.0031	0.0037	0.0044	0.0024	0.0024	0.0023	0.0025	0.0035	0.0022	0.0021	0.0031	0.0030	0.0006	0.0318	0.0016	0.0052	0	0.0003	0.0102	0.0035	0.0071	0.0023	0.299	0.14595	T	0.732	0.06448	T	0.0	0.02946	B	0.001	0.04355	B	0.159179	0.17718	N	0.536650	1	0.21117	N	0	0.06538	N	-0.95	0.75438	T	-0.03	0.07444	N	0.102	0.08506	-0.9309	0.44006	T	0.130	0.43907	T	10	0.0036392808	0.00066	T	0.015747	0.36654	T	0.058	0.16647	.	.	0.751563266754	0.74931	0.6665438887137366	0.66592	0.447342404213	0.44593	0.320701599121	0.13528	T	0.044926	0.32375	T	-0.444816	0.01211	T	-0.411458	0.32056	T	0.00758554600725381	0.00088	T	0.232977	0.03672	T	0.0655083	0.14007	0.060480315	0.11525	0.0655083	0.14007	0.060480315	0.11524	-3.956	0.23143	T	.	.	0.073	0.08033	B	.;.	.;.	0.312258	0.06872	3.407	0.75623271815446069	0.11147	0.08455	0.14382	N	ALL	0.072755	0.14531	N	-0.952301312095	0.09641	0.4571769	-0.95089995723086	0.10901	0.5520998	0.999999992765565	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.56	2.71	0.31092	0.616000	0.24038	0.513000	0.19097	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.004000	0.06068	0.0:0.7534:0.2466:0.0	9.128	0.35987	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.015152	0.009511	0.029240	0.000000	0.025862	0.015244	0.022727	0.08333	771.83	36	chr4	87423002	.	C	A	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.987;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.41;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	788.6	22	chr4	87615398	.	T	*	788.6	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.195;DP=179;ExcessHet=0.2119;FS=10.399;MLEAC=2;MLEAF=0.2;MQ=59.14;MQRankSum=0.793;QD=7.89;ReadPosRankSum=1.07;SOR=0.616	GT:AD:DP:GQ:PL	0/1:9,12:21:99:477,0,321	3	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,13:23:99:0|1:87615730_ATAG_A:1391,387,343:87615730	1	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,13:23:99:0|1:87615730_ATAG_A:1369,367,338:87615730	1	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1217.02	35	chr4	87615936	.	A	*	1217.02	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3;DP=144;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=58.23;MQRankSum=-1.876;QD=9.22;ReadPosRankSum=-1.614;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:16:48:1|1:87615883_A_G:709,709,709:87615883	3	2	0	1
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	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	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	605.62	35	chr4	87615952	.	GCGA	G	605.62	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.586;DP=113;ExcessHet=0;FS=4.195;MLEAC=1;MLEAF=0.125;MQ=58.82;MQRankSum=-0.31;QD=6.66;ReadPosRankSum=-0.755;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:3:.:.:0,3,45:.	3	0	1	2
chr4	87615952	87615955	GCGA	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	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	605.62	35	chr4	87615952	.	GCGA	*	605.62	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.586;DP=113;ExcessHet=0;FS=4.195;MLEAC=5;MLEAF=0.625;MQ=58.82;MQRankSum=-0.31;QD=6.66;ReadPosRankSum=-0.755;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:3:.:.:0,3,45:.	2	2	0	2
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	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	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1186.42	35	chr4	87615956	.	TAGCAGC	T	1186.42	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.38;DP=110;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=57.61;MQRankSum=1.38;QD=11.19;ReadPosRankSum=0.21;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:9:27:1|1:87615883_A_G:405,405,405:87615883	4	0	1	1
chr4	87615956	87615962	TAGCAGC	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	1160	197	41	98	26	263	0.375594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1186.42	35	chr4	87615956	.	TAGCAGC	*	1186.42	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.38;DP=110;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=57.61;MQRankSum=1.38;QD=11.19;ReadPosRankSum=0.21;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:9:27:1|1:87615883_A_G:405,405,405:87615883	3	2	0	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	433.66	35	chr4	87615962	.	C	*	433.66	.	AC=5;AF=0.5;AN=10;DP=109;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=54.4;MQRankSum=1.47;QD=4.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:7:21:1|1:87615883_A_G:315,315,315:87615883	2	2	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	211.81	35	chr4	87615971	.	C	*	211.81	.	AC=4;AF=0.5;AN=8;DP=96;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=58.89;QD=3.21;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:6:16:1|1:87615883_A_G:228,228,228:87615883	2	2	0	2
chr4	87662338	87662338	G	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.G512A:p.S171N,DMP1:NM_004407:exon6:c.G560A:p.S187N	Hypophosphatemic rickets, AR, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0264941962356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.04	0.63918	D	0.853	0.47048	P	0.773	0.56974	P	0.000431	0.44522	D	0.101945	0.791285	0.34390	D	2.725	0.79712	M	0.4	0.57261	T	-2.38	0.52451	N	0.208	0.31814	-0.5536	0.66650	T	0.280	0.65219	T	10	0.22683468	0.39548	T	0.026494	0.49402	D	0.162	0.41843	0.291	0.25241	0.895650976967	0.89462	0.08547272091651853	0.08481	0.344505611829	0.36384	0.481585949659	0.36276	T	0.182787	0.53492	T	-0.189068	0.22394	T	-0.509359	0.21381	T	0.942997634410858	0.61772	D	0.831017	0.49766	T	0.2342021	0.46237	0.23362358	0.48557	0.2342021	0.46237	0.23362358	0.48556	-5.661	0.43344	T	0.6620875090610432	0.73574	0.122	0.33249	B	.;.	.;.	3.283148	0.44992	22.0	0.99245078662065755	0.56662	0.95200	0.63808	D	AEFBI	0.415462	0.48431	N	0.387066000302187	0.60720	4.264187	0.333481732856035	0.57519	3.917804	0.457211480890628	0.20593	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	1.403000	0.34220	8.678000	0.78033	0.618000	0.50648	0.028000	0.20300	1.000000	0.68203	0.372000	0.26156	0.0:0.0:1.0:0.0	15.821	0.78424	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1194.83	33	chr4	87662338	.	G	A	1194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.165;DP=263;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=2.09;SOR=1.022	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr4	88057981	88057981	A	C	splicing	PKD2	NM_000297:exon9:c.1899-2A>C	.	.	Polycystic kidney disease 2	.	.	.	.	.	.	.	1.0000	0.928	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.393299	0.90346	31	0.99545809839149846	0.70836	0.99814	0.99640	D	AEFBI	.	.	.	1.16549228097182	0.99169	21.02314	1.02150946428102	0.99001	20.22455	0.999999999683971	0.74766	0.322412	0.05557	0	0.097471	0.02872	0	0.331037	0.05861	0	0.221052	0.04502	0	0.974593	0.77293	5.48	5.48	0.80675	9.116000	0.93665	11.107000	0.86243	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.567	0.76040	484	0.77165	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	182.74	45	chr4	88057981	.	A	C	182.74	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.609;DP=225;ExcessHet=0;FS=44.913;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.21;ReadPosRankSum=3.28;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:52:.:.:0,52,706:.	4	0	1	1
chr4	88067937	88067937	A	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon13:c.A2398C:p.M800L	Polycystic kidney disease 2	1	1453	65	3	0	71	0.0238495	.	.	.	221479	Polycystic_kidney_disease|not_specified|Polycystic_kidney_disease_2|Joubert_syndrome_7|Autosomal_dominant_polycystic_kidney_disease|not_provided	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|MedGen:CN169374|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	.	0.0044	0.00579073	0.0048	0.0083	0.0025	0	0.0009	0.0040	0.0055	0.0117	0.0044695	691	154602	rs2234917	0.0032	0.0032	0.0028	0.0036	0.0187	0.0031	0.0031	0.0159	0.0148	0.0077	0.0043	0.0205	0	0.0003	0.0187	0.0020	0.0057	0.0114	0.0051	0.0051	0.0051	0.0052	0.0118	0.0048	0.0047	0.0094	0.0085	0.0072	0.0132	0.0065	0.0236	0	0.0003	0.0442	0.0029	0.0066	0.0118	0.665	0.04629	T	0.939	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.000918	0.41128	N	0.295663	0.616511	0.30816	N	1.1	0.28011	L	-0.41	0.69413	T	-0.11	0.14588	N	0.254	0.30233	-0.9394	0.42711	T	0.113	0.40307	T	10	0.0069056153	0.00157	T	.	.	.	0.399	0.71321	0.495	0.58363	0.945837253058	0.94527	0.1314713499274115	0.13072	0.139255522669	0.15693	0.421813100576	0.28086	T	0.142519	0.47815	T	-0.268207	0.11957	T	-0.14765	0.59452	T	0.00219528382903001	0.00023	T	0.764224	0.39120	T	0.045509968	0.07461	0.054237243	0.09290	0.057194527	0.11352	0.057819337	0.10579	-2.145	0.03782	T	0.10625892327191047	0.08520	0.074	0.04932	B	.;.;.	.;.;.	1.446665	0.18669	13.86	0.71330291271392499	0.09593	0.89619	0.50200	D	AEFBI	0.237112	0.35945	N	-0.504278964987943	0.21940	1.168109	-0.333832732084893	0.27015	1.496058	0.901064122219379	0.26092	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.68	3.07	0.34476	1.488000	0.35160	1.902000	0.29588	0.754000	0.88378	0.976000	0.34826	0.976000	0.30059	0.938000	0.47775	0.6156:0.3844:0.0:0.0	12.700	0.56398	620	0.66037	.;.;.	.	.	.	.	.	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	0.016616	0.010101	0.012228	0.008772	0.000000	0.025862	0.024390	0.018939	0.08333	624.83	57	chr4	88067937	.	A	C	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=228;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.129;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	5	0	1	0
chr4	88436928	88436928	A	C	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon18:c.A2333C:p.D778A,HERC6:NM_017912:exon19:c.A2441C:p.D814A	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00764746963329	0.0030	0.00219649	0.0022	0.0003	0.0007	0.0002	0.0018	0.0027	0.0011	0.0040	0.0022057	341	154602	rs77703113	0.0031	0.0031	0.0030	0.0032	0.0052	0.0031	0.0030	0.0048	0.0046	0.0008	0.0007	0.0052	7.611e-05	0.0017	0.0023	0.0033	0.0025	0.0052	0.0022	0.0022	0.0022	0.0021	0.0037	0.0020	0.0019	0.0031	0.0030	0.0006	0	0.0007	0.0081	0.0004	0.0006	0	0.0035	0.0009	0.0037	0.128	0.26965	T	0.173	0.30241	T	0.112	0.27347	B	0.019	0.22329	B	0.446787	0.04792	N	1.331910	1	0.08975	N	1.455	0.36767	L	1.07	0.39586	T	-4.26	0.76174	D	0.394	0.43514	-1.0499	0.14425	T	0.043	0.18451	T	10	0.0058585703	0.00131	T	0.007647	0.20299	T	0.116	0.32463	.	.	0.385578977469	0.38175	0.14228820830661637	0.14151	0.330719497895	0.35150	0.266767144203	0.05723	T	0.00611	0.05549	T	-0.493644	0.00621	T	-0.481458	0.24292	T	0.0147490318806332	0.00308	T	0.446155	0.12501	T	0.17309174	0.38037	0.1552933	0.36408	0.17309174	0.38037	0.1552933	0.36407	-11.728	0.84522	D	.	.	0.109	0.23883	B	.;.	.;.	1.630960	0.20822	14.93	0.94878007144657628	0.25707	0.41061	0.26574	N	AEFBI	0.073730	0.14757	N	-0.835618691560002	0.12406	0.6045722	-0.834692125299726	0.13655	0.7095907	0.00456896855272219	0.10618	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.95	-0.482	0.11476	2.564000	0.45593	2.610000	0.33572	0.683000	0.82448	0.203000	0.24344	1.000000	0.68203	0.156000	0.20513	0.5336:0.1642:0.3022:0.0	4.54	0.11453	739	0.53257	.;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	157.83	32	chr4	88436928	.	A	C	157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=157;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.296;SOR=1.179	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,662	5	0	1	0
chr4	88487133	88487133	T	C	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon15:c.T1916C:p.L639P	.	.	.	.	.	.	.	.	.	.	.	2765498	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0312620701662	.	.	5.971e-05	0	0	0	0	6.23e-05	0	0.0002	5.17e-05	8	154602	rs573916867	5.35e-05	5.472e-05	4.232e-05	6.477e-05	0.0006	4.355e-05	4.028e-05	0.0002	0.0002	2.995e-05	4.475e-05	0	0	0	0.0006	3.696e-05	4.98e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.069	0.35537	T	0.06	0.45744	T	0.102	0.25827	B	0.067	0.27542	B	0.135089	0.18493	N	0.430143	0.955899	0.38564	D	1	0.25136	L	-1.07	0.76948	T	0.03	0.10308	N	0.409	0.45047	-0.7634	0.57220	T	0.265	0.63630	T	10	0.2009036	0.36154	T	0.031262	0.53383	D	0.441	0.74447	0.627	0.76254	0.725946090427	0.72351	0.6269993717378657	0.62632	0.771200395479	0.64771	0.494559705257	0.38071	T	0.008561	0.07851	T	-0.0613188	0.42700	T	-0.0464216	0.67266	D	0.0116838216781616	0.00179	T	0.518148	0.18433	T	0.046345983	0.07740	0.050834462	0.08060	0.046345983	0.07740	0.050834462	0.08059	-5.538	0.42222	T	.	.	0.110	0.29697	B	.;.	.;.	0.814306	0.11854	8.421	0.96526521460611303	0.30136	0.08342	0.14284	N	AEFBI	0.065426	0.12761	N	-0.667901432079233	0.16941	0.8675219	-0.668363723643196	0.17753	0.9454204	0.214342033445717	0.18278	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.33	3.12	0.34986	0.474000	0.21858	0.484000	0.18835	0.502000	0.22824	0.006000	0.17386	0.186000	0.23459	0.309000	0.24713	0.0:0.0997:0.201:0.6993	4.495	0.11247	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1000.83	33	chr4	88487133	.	T	C	1000.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.655;DP=284;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.561;SOR=0.812	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr4	89113762	89113762	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G788A:p.R263K,TIGD2:NM_145715:exon2:c.G788A:p.R263K	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00177332286756	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs754436347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	2.319e-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	0.952	0.02136	T	0.933	0.02750	T	0.002	0.09854	B	0.003	0.08700	B	0.028369	0.25612	N	0.274240	0.999376	0.21289	N	-0.49	0.02651	N	1.01	0.41058	T	0.27	0.04306	N	0.17	0.18103	-1.0217	0.23162	T	0.045	0.19478	T	10	0.06915411	0.09882	T	0.001773	0.03012	T	0.044	0.11924	0.607	0.73945	0.264547087235	0.26054	0.1901371961342062	0.18931	0.140382735121	0.15837	0.48381587863	0.36582	T	0.009036	0.08254	T	-0.304276	0.08262	T	-0.577994	0.14725	T	0.0245531642926208	0.01215	T	0.665633	0.27494	T	0.054865055	0.10585	0.04751043	0.06858	0.054865055	0.10585	0.04751043	0.06858	-2.452	0.05462	T	.	.	0.091	0.16407	B	.;.	.;.	1.375064	0.17855	13.41	0.75720848729712609	0.11185	0.42486	0.26888	N	AEFGBHCI	0.068684	0.13561	N	-0.536468681587165	0.20910	1.105796	-0.349870514362063	0.26513	1.464932	0.999996216934634	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.49	2.67	0.30756	0.479000	0.21938	2.868000	0.35247	0.676000	0.76740	0.555000	0.27385	1.000000	0.68203	1.000000	0.97212	0.3265:0.0:0.6735:0.0	6.239	0.19987	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	795.83	33	chr4	89113762	.	G	A	795.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.668;DP=254;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.72;SOR=0.924	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1202	5	0	1	0
chr4	89953020	89953020	T	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.T3289C:p.Y1097H,MMRN1:NM_001371403:exon9:c.T3289C:p.Y1097H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0400902348327	7.7e-05	0.000399361	0.0001	9.844e-05	0	0	0	0.0001	0	0.0003	0.0001035	16	154602	rs199716183	7.624e-05	7.661e-05	6.145e-05	9.12e-05	0.0014	6.449e-05	6.028e-05	0.0007	0.0005	9.044e-05	2.272e-05	0.0004	0	0	0.0014	3.606e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	9.736e-05	8.251e-05	0.0002	9.003e-05	0.0002	0	0.0002	0.0003	0	0	0.0034	7.351e-05	0	0.0006	0.031	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.000000	0.972161	0.38925	D	1.39	0.34934	L	0.11	0.66474	T	-0.69	0.27259	N	0.656	0.71321	-0.2831	0.75456	T	0.388	0.74305	T	10	0.194527	0.35267	T	0.04009	0.59179	D	0.349	0.67049	.	.	0.710252556725	0.70772	0.4291670179428041	0.42833	0.0868715534287	0.09797	0.732777237892	0.71913	T	0.115045	0.45217	T	-0.0785767	0.39944	T	-0.0306368	0.68326	D	0.0925420665866641	0.11516	T	0.872513	0.57956	D	0.10982175	0.25962	0.105853744	0.25455	0.10982175	0.25962	0.105853744	0.25454	-3.366	0.14602	T	.	.	0.734	0.78581	P	.;.;.	.;.;.	4.528004	0.71055	25.6	0.99857060259026864	0.93548	0.92722	0.56386	D	AEFBI	0.698648	0.65625	D	0.525458370543049	0.68600	5.239589	0.488205813613256	0.67208	5.053234	0.947861424996864	0.27773	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	5.028000	0.63895	7.265000	0.57972	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.122	0.58750	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	601.83	42	chr4	89953020	.	T	C	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=225;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.557;SOR=0.96	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr4	89953411	89953411	G	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.G3680T:p.R1227L,MMRN1:NM_001371403:exon9:c.G3680T:p.R1227L	.	435	1079	8	0	0	8	0.00369344	.	.	.	2820033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.704	.	0.0048	0.00459265	0.0034	0.0092	0.0048	0	0.0002	0.0036	0.0108	0.0006	0.0033893	524	154602	rs147451161	0.0023	0.0024	0.0023	0.0023	0.0182	0.0023	0.0022	0.0154	0.0143	0.0066	0.0065	0.0270	0	0.0002	0.0182	0.0015	0.0066	0.0005	0.0048	0.0048	0.0048	0.0048	0.0092	0.0045	0.0044	0.0080	0.0075	0.0075	0	0.0092	0.0302	0	0.0002	0.0204	0.0021	0.0090	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000010	0.62929	D	0.000000	0.977947	0.46733	D	1.5	0.37844	L	-2.05	0.85799	D	-3.89	0.73579	D	0.704	0.87265	0.400	0.89097	D	0.633	0.87131	D	10	0.010451436	0.00232	T	.	.	.	0.704	0.89376	.	.	0.928513143006	0.92778	0.723997401901554	0.72343	0.0867948037447	0.09792	0.685833334923	0.65106	T	0.437702	0.78363	T	-0.0756161	0.40425	T	0.124297	0.78519	D	0.0235939277011258	0.01094	T	0.89481	0.64041	D	0.52166826	0.68355	0.4430225	0.67533	0.52166826	0.68356	0.4430225	0.67533	-6.173	0.47704	T	.	.	0.890	0.84549	P	.;.;.	.;.;.	4.504053	0.70476	25.5	0.99760481233316733	0.85011	0.98264	0.81063	D	AEFDBI	0.819297	0.74035	D	0.611869349107216	0.73923	6.046213	0.555673810495086	0.71794	5.709302	0.98018772161836	0.30108	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	6.367000	0.73038	10.909000	0.84175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.651	0.88066	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.055556	0.025815	0.017544	0.000000	0.008621	0.003049	0.003788	0.08333	306.83	39	chr4	89953411	.	G	T	306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-1.562;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	5	0	1	0
chr4	95129947	95129947	G	A	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon7:c.G671A:p.R224H,BMPR1B:NM_001256793:exon7:c.G761A:p.R254H,BMPR1B:NM_001256794:exon7:c.G671A:p.R224H,BMPR1B:NM_001203:exon9:c.G671A:p.R224H	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	299982	BMPR1B-related_disorder|Acromesomelic_dysplasia_3|Type_A2_brachydactyly|not_provided|Brachydactyly	.|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441|Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.523	0.0639030800321	0.0008	0.000599042	0.0011	0.0005	0.0003	0.0003	0.0015	0.0016	0	0.0003	0.0009638	149	154602	rs35973133	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0003	0.0002	0.0016	0.0002	0.0008	0.0005	0.0008	0.0007	0.0004	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0003	0.0014	0.0004	0.0007	0	0.0013	0	0.0006	0.036	0.44358	D	0.242	0.34241	T	0.416	0.35222	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.56	0.39490	L	-3.23	0.93414	D	-4.37	0.77308	D	0.744	0.85027	0.300	0.87557	D	0.710	0.90032	D	10	0.084184706	0.14083	T	0.063903	0.69112	D	0.523	0.79765	.	.	0.922724566945	0.92193	0.6915159658757071	0.69091	0.302866738118	0.32613	0.81956243515	0.84961	D	0.783911	0.94320	D	0.0302997	0.55764	T	0.264271	0.86296	D	0.0510502388134741	0.05684	T	0.80292	0.44963	T	0.29100126	0.52086	0.44137716	0.67423	0.41382685	0.61679	0.4285253	0.66563	-9.281	0.69732	D	.	.	0.766	0.75767	P	.;.;.;.;.	.;.;.;.;.	5.259087	0.88304	29.5	0.99807747905466526	0.89174	0.97074	0.72538	D	AEFGBHCIJ	0.915435	0.88023	D	0.376162852939217	0.60132	4.198973	0.538904422784041	0.70631	5.533387	1.0	0.98316	0.50284	0.20314	0	0.573888	0.26702	0	0.618467	0.43123	0	0.654926	0.60358	0	.	.	5.9	5.9	0.94952	10.003000	0.99689	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.336	0.98737	565	0.70868	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	705.83	34	chr4	95129947	.	G	A	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.5;DP=244;ExcessHet=0;FS=0.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.052;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1025	5	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	34.31	78	chr4	99347057	.	C	G	34.31	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.26;DP=490;ExcessHet=0.4139;FS=372.026;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=-0.689;SOR=8.581	GT:AD:DP:GQ:PL	./.:58,0:58:0:0,0,702	1	0	2	3
chr4	99652407	99652407	C	G	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2242C:p.V748L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.016241645961	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746888603	9.394e-06	8.893e-06	8.56e-06	1.025e-05	1.112e-05	5.24e-06	4.04e-06	5.93e-06	4.68e-06	0	0	0	0	0	0	1.112e-05	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.31	0.16794	T	-0.17	0.09627	N	0.542	0.56919	-1.0034	0.28933	T	0.043	0.18618	T	6	0.38003427	0.54124	T	0.016242	0.37399	T	0.043	0.11576	0.311	0.28451	0.12205267543	0.11705	0.3788483603366335	0.37799	.	.	.	.	.	0.021509	0.16737	T	-0.188476	0.22482	T	-0.483329	0.24092	T	0.226325621924375	0.21775	T	0.584642	0.21276	T	0.12392763	0.29088	0.16435611	0.38077	0.12392763	0.29088	0.16435611	0.38076	-3.629	0.18277	T	.	.	0.471	0.63224	A	.	.	3.368599	0.46543	22.3	0.98599976278988866	0.43493	0.93826	0.59302	D	AEFBI	0.489960	0.52764	N	-0.194641895693931	0.33357	1.891542	-0.176265416296327	0.32412	1.843722	0.999975630798971	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.82	0.43153	2.037000	0.40795	3.644000	0.39356	-0.176000	0.10722	0.713000	0.28751	0.999000	0.35428	0.126000	0.19410	0.0:0.9188:0.0:0.0812	12.504	0.55313	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1805.83	34	chr4	99652407	.	C	G	1805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=455;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.521;SOR=0.778	GT:AD:DP:GQ:PL	0/1:96,72:168:99:1816,0,2411	5	0	1	0
chr4	102025402	102025402	C	T	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon8:c.C1088T:p.P363L,BANK1:NM_001083907:exon9:c.C1397T:p.P466L,BANK1:NM_017935:exon9:c.C1487T:p.P496L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0297551291474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.127	0.35082	T	0.001	0.09854	B	0.004	0.10090	B	0.685964	0.10217	N	0.842623	1	0.08975	N	0.345	0.11182	N	0.59	0.53943	T	-3.03	0.62747	D	0.036	0.03726	-1.0218	0.23129	T	0.105	0.38489	T	10	0.08674291	0.14773	T	0.029755	0.52206	D	0.033	0.08068	0.263	0.20788	0.470484629704	0.46675	0.2642836818777566	0.26341	0.116420580842	0.13130	0.269536674023	0.06081	T	0.359655	0.72603	T	-0.283991	0.10249	T	-0.64571	0.09259	T	0.15950396205797	0.17835	T	0.740126	0.35895	T	0.061067473	0.12605	0.08291576	0.18962	0.061067473	0.12605	0.08291576	0.18961	-3.469	0.19067	T	.	.	0.077	0.06710	B	.;.;.;.;.	.;.;.;.;.	0.319449	0.06938	3.486	0.95945535105722601	0.28256	0.02191	0.06404	N	AEFI	0.052957	0.09501	N	-0.822823035378555	0.12728	0.622294	-0.832521918755112	0.13708	0.712609	4.31051462611469E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.9	2.94	0.33188	0.018000	0.13315	0.315000	0.17124	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.2243:0.5859:0.0:0.1898	5.275	0.14956	910	0.22284	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1614.83	39	chr4	102025402	.	C	T	1614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.461;DP=275;ExcessHet=0;FS=1.705;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.579;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	5	0	1	0
chr4	102315811	102315811	A	G	exonic	SLC39A8	.	nonsynonymous SNV	SLC39A8:NM_001135148:exon2:c.T38C:p.I13T,SLC39A8:NM_022154:exon2:c.T239C:p.I80T,SLC39A8:NM_001135146:exon3:c.T239C:p.I80T,SLC39A8:NM_001135147:exon3:c.T239C:p.I80T	Congenital disorder of glycosylation, type IIn, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	0.0547269526892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.095	0.39492	T	0.454	0.36182	P	0.235	0.38432	B	0.000005	0.62929	D	0.059639	0.999973	0.53665	D	1.04	0.26193	L	-0.63	0.73523	T	-2.34	0.52776	N	0.759	0.76296	-0.0336	0.81554	T	0.500	0.81096	T	10	0.81113684	0.80396	D	0.054727	0.65965	D	0.629	0.85718	0.743	0.87486	0.509303607079	0.50571	0.7574058626543675	0.75688	1.52008781448	0.87410	0.744469761848	0.73631	T	0.048175	0.27941	T	0.314568	0.84084	D	0.214078	0.83876	D	0.952965259552002	0.63916	D	0.812919	0.46506	T	0.15637036	0.35291	0.21945827	0.46686	0.15637036	0.35290	0.21945827	0.46685	-8.167	0.62202	D	0.32473927401986685	0.42288	0.913	0.83704	P	.;.;.	.;.;.	3.928592	0.57408	23.9	0.99237757057739706	0.56437	0.97000	0.72113	D	AEFBI	0.790297	0.71923	D	0.417550413400364	0.62387	4.453799	0.482127056741689	0.66807	5.000307	0.999999590624202	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.36	5.36	0.76624	6.628000	0.74125	10.938000	0.84325	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	14.536	0.67551	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1666.04	33	chr4	102315811	.	A	G	1666.04	.	AC=2;AF=0.167;AN=12;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.75;SOR=1.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	5	1	0	0
chr4	102600993	102600993	G	A	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon15:c.G1694A:p.R565K,NFKB1:NM_001165412:exon16:c.G1733A:p.R578K,NFKB1:NM_001319226:exon16:c.G1733A:p.R578K,NFKB1:NM_003998:exon16:c.G1736A:p.R579K,NFKB1:NM_001382625:exon17:c.G1736A:p.R579K,NFKB1:NM_001382626:exon17:c.G1736A:p.R579K,NFKB1:NM_001382627:exon17:c.G1733A:p.R578K	Immunodeficiency, common variable, 12, Autosomal dominant	422	1091	7	2	0	11	0.00501596	.	.	.	1544483	Immunodeficiency,_common_variable,_12|not_provided	MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.0232617146504	0.0003	0.00159744	0.0018	0	0.0025	0	0	0.0004	0.0011	0.0099	0.0014942	231	154602	rs4648086	0.0008	0.0008	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0084	6.056e-05	0.0015	0.0007	0	0	0.0068	0.0002	0.0009	0.0091	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	0	0	0.0002	0.0012	0	0	0.0238	0.0002	0.0009	0.0060	0.369	0.11586	T	0.507	0.12562	T	0.998	0.73220	D	0.911	0.74104	D	0.000050	0.53742	D	0.124030	0.999311	0.46639	D	1.89	0.50145	L	0.01	0.62459	T	-0.23	0.10656	N	0.308	0.34767	-0.4946	0.68843	T	0.378	0.73513	T	10	0.010088831	0.00226	T	0.023262	0.46211	T	0.212	0.50341	.	.	0.743427360143	0.74112	0.6969776683121308	0.69638	0.494346930209	0.47999	0.793027758598	0.80903	T	0.139131	0.47300	T	-0.241557	0.15152	T	-0.112933	0.62377	T	0.0567992431287323	0.06656	T	0.851115	0.55677	D	0.14450043	0.33165	0.12107569	0.29214	0.13558398	0.31461	0.11874198	0.28661	-6.935	0.54136	T	0.3170823565101529	0.41514	0.191	0.48230	B	.;.;.;.	.;.;.;.	4.240630	0.64293	24.7	0.99428378965834774	0.64130	0.97586	0.75724	D	AEFDBI	0.782508	0.71377	D	0.563411331976355	0.70902	5.570317	0.560726592355535	0.72148	5.764166	0.999999999999311	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	6.304000	0.72770	9.882000	0.82206	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.416	0.90513	958	0.09170	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008056	0.005051	0.005435	0.020468	0.000000	0.017241	0.003049	0.007576	0.08333	1537.83	34	chr4	102600993	.	G	A	1537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.386;DP=321;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.555;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	5	0	1	0
chr4	104491512	104491517	GGCGGT	-	exonic	CXXC4	.	nonframeshift deletion	CXXC4:NM_025212:exon2:c.286_291del:p.T96_A97del	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0161	0	0	0	0	0.0109	0	0.0455	0.0001746	27	154602	rs762609353	0.0008	0.0008	0.0006	0.0010	0.0074	0.0007	0.0007	0.0068	0.0065	4.708e-05	0	0.0181	0	0	0.0016	0.0001	0.0019	0.0074	0.0008	0.0008	0.0007	0.0009	0.0085	0.0007	0.0006	0.0063	0.0056	2.496e-05	0	0.0001	0.0148	0	0	0.0034	0.0004	0	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	493.8	29	chr4	104491511	.	CGGCGGT	C	493.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.091;DP=91;ExcessHet=0;FS=6.495;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.699;SOR=0.071	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,348	5	0	1	0
chr4	106235347	106235347	G	T	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon13:c.C1182A:p.N394K,TBCK:NM_001163435:exon15:c.C1371A:p.N457K,TBCK:NM_001163436:exon15:c.C1371A:p.N457K,TBCK:NM_001163437:exon15:c.C1254A:p.N418K,TBCK:NM_001290768:exon16:c.C855A:p.N285K	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	440	1081	1	0	0	1	0.000462321	.	.	YES	1497090	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.011979158664	.	0.000199681	0.0001	0.0001	0.0001	0.0001	0	7.543e-05	0	0.0004	7.68e-05	2	26028	rs532862191	7.767e-05	8.14e-05	6.839e-05	8.705e-05	0.0002	6.564e-05	6.165e-05	0.0002	0.0001	0.0001	0.0002	0.0005	0.0001	1.908e-05	0.0002	4.871e-05	0.0001	0.0002	9.898e-05	0.0001	9.029e-05	0.0001	0.0002	6.032e-05	4.9e-05	3.257e-05	1.92e-05	9.683e-05	0	0	0.0017	0	0	0	4.425e-05	0.0005	0.0002	0.073	0.35165	T	0.295	0.22694	T	0.013	0.44910	B	0.003	0.35118	B	0.000000	0.84330	D	0.000000	0.999586	0.47691	D	1.465	0.36909	L	2.94	0.09728	T	-0.78	0.22508	N	0.606	0.62357	-0.9616	0.38877	T	0.017	0.06998	T	10	0.06402174	0.08427	T	0.011979	0.30135	T	0.097	0.27909	0.444	0.50139	0.235038932564	0.23097	0.46753077888172206	0.46672	0.0834057925702	0.09409	0.767661035061	0.77075	T	0.009945	0.09021	T	-0.357371	0.04281	T	-0.47168	0.25334	T	0.0151173736909651	0.00328	T	0.812919	0.46506	T	0.2819503	0.51235	0.15598164	0.36540	0.2819503	0.51235	0.15598164	0.36539	-4.084	0.25054	T	0.10654904752506524	0.08576	0.34	0.55909	A	.;.;.;.;.	.;.;.;.;.	1.568837	0.20088	14.58	0.97113244956102907	0.32422	0.95490	0.64928	D	AEFBI	0.585850	0.58412	D	-0.560641518045074	0.20151	1.060209	-0.4274623389679	0.24196	1.323582	0.985326419623954	0.30868	0.744818	0.98587	0	0.709663	0.81188	0	0.653264	0.51672	0	0.76194	0.99817	0	.	.	5.9	0.724	0.17389	2.687000	0.46643	3.581000	0.39157	-0.666000	0.04332	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.6634:0.0:0.3366:0.0	10.652	0.44850	720	0.55521	.;.;.;.;.	.	.	.	.	.	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	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	516.83	36	chr4	106235347	.	G	T	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.052;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.781;SOR=0.656	GT:AD:DP:GQ:PL	0/1:33,26:61:99:527,0,767	5	0	1	0
chr4	108079592	108079592	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon6:c.G661A:p.G221S,LEF1:NM_001130714:exon6:c.G661A:p.G221S,LEF1:NM_001166119:exon6:c.G457A:p.G153S,LEF1:NM_016269:exon7:c.G745A:p.G249S	Sebaceous tumors, somatic (3)	421	1099	2	0	0	2	0.000909091	.	.	.	2211604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.578	0.182070761353	7.7e-05	.	3.296e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs146861754	2.258e-05	2.257e-05	1.225e-05	3.3e-05	0.0007	1.61e-05	1.416e-05	0.0002	0.0001	0	4.473e-05	0	2.52e-05	1.872e-05	0.0007	5.396e-06	9.935e-05	0.0002	1.317e-05	1.314e-05	1.287e-05	1.348e-05	0.0004	2.19e-06	8.2e-07	7.355e-05	3.053e-05	0	0	0	0	0	0	0	0	0	0.0004	0.895	0.19293	T	0.675	0.10714	T	0.238	0.90584	B	0.079	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-5.38	0.99184	D	-0.9	0.24244	N	0.696	0.71942	0.780	0.94167	D	0.925	0.97534	D	10	0.59727633	0.66713	D	0.182071	0.85597	D	0.578	0.82968	.	.	0.861820941678	0.86048	0.42433645578686824	0.42350	0.618344074146	0.56229	0.834750890732	0.87291	D	0.390528	0.75068	T	0.158985	0.70107	D	0.264894	0.86323	D	0.395478039979935	0.28772	T	0.927007	0.87317	D	0.2153556	0.43966	0.2670326	0.52555	0.2153556	0.43966	0.2670326	0.52554	-4.839	0.48666	T	.	.	0.102	0.18164	B	.;.;.;.	.;.;.;.	4.037111	0.59739	24.1	0.99715320527982343	0.81633	0.98623	0.84820	D	AEFDBI	0.847743	0.76458	D	0.203272514179013	0.51356	3.31764	0.356098131911315	0.58875	4.061011	0.999999999999946	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	4.894000	0.62897	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.173	0.98166	943	0.12886	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	4368.06	45	chr4	108079592	.	C	T	4368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.11;DP=516;ExcessHet=0.4139;FS=4.053;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.08;SOR=0.9	GT:AD:DP:GQ:PL	0/1:97,79:176:99:1923,0,2381	4	0	2	0
chr4	112145690	112145690	C	A	exonic	FAM241A	.	nonsynonymous SNV	FAM241A:NM_152400:exon1:c.C110A:p.A37E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.143194135475	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs748059133	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.358	0.17064	T	0.004	0.12183	B	0.015	0.17295	B	0.812075	0.09243	U	0.896444	0.954157	0.26379	N	.	.	.	0.66	0.52416	T	-0.27	0.11366	N	0.153	0.15749	-0.9880	0.33102	T	0.096	0.36029	T	10	0.058886558	0.06994	T	0.143194	0.82553	D	0.032	0.07718	0.194	0.10571	0.352048277211	0.34822	0.22163397565385767	0.22078	0.707681733285	0.61507	.	.	.	0.010899	0.09789	T	-0.231402	0.16463	T	-0.57017	0.15434	T	0.186231952032212	0.19620	T	0.49705	0.15447	T	0.067554034	0.14640	0.11685191	0.28208	0.067554034	0.14640	0.11685191	0.28208	-4.4	0.29557	T	.	.	0.086	0.10545	B	.	.	1.820424	0.23134	15.90	0.9869173927802678	0.44766	0.08455	0.14382	N	ALL	0.056908	0.10558	N	-0.67063253532118	0.16862	0.8628127	-0.658042762301028	0.18013	0.9604431	0.999999995928025	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.18	1.33	0.20958	0.343000	0.19686	0.597000	0.19884	0.442000	0.21104	0.007000	0.17678	0.694000	0.26193	0.034000	0.13613	0.2659:0.5956:0.0:0.1385	3.643	0.07715	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.69	5	chr4	112145690	.	C	A	30.69	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,67	5	0	1	0
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.08333	1513.83	112	chr4	112430694	.	A	G	1513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=339;ExcessHet=0;FS=1.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.592;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	5	0	1	0
chr4	112619651	112619651	T	C	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon6:c.A391G:p.I131V,ZGRF1:NM_018392:exon6:c.A391G:p.I131V	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0236754945227	.	.	8.364e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs771587143	6.85e-07	6.84e-07	1.363e-06	0	2.259e-05	0	0	.	.	0	2.259e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06824	T	0.315	0.19421	T	0.01	0.15535	B	0.013	0.16460	B	0.216707	0.16235	N	0.560041	1	0.08975	N	0.895	0.22405	L	-1.59	0.82076	D	0.06	0.06253	N	0.039	0.01347	-0.8053	0.54831	T	0.366	0.72620	T	10	0.049389124	0.04521	T	0.023675	0.46651	T	0.021	0.04004	0.228	0.15406	0.339074221408	0.33521	0.06189869294429757	0.06129	0.0580188796904	0.06425	.	.	.	0.006302	0.08010	T	-0.171645	0.24985	T	-0.401468	0.33213	T	0.0196208041161299	0.00665	T	0.541546	0.18382	T	0.025969198	0.01596	0.035193373	0.02724	0.025969198	0.01595	0.035193373	0.02724	-3.728	0.19732	T	.	.	0.092	0.13409	B	.;.;.;.	.;.;.;.	-0.185703	0.03164	0.515	0.64018881073498268	0.07379	0.03843	0.09194	N	AEFBI	0.066097	0.12926	N	-0.869746744368732	0.11567	0.5589079	-0.88563653739419	0.12434	0.6395533	1.16508041526477E-5	0.02871	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.43	1.59	0.22622	-0.199000	0.09493	-1.780000	0.04740	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.0:0.2735:0.1269:0.5995	5.965	0.18553	831	0.39019	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.83	38	chr4	112619651	.	T	C	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.987;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	5	0	1	0
chr4	113354704	113354704	T	G	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.T6086G:p.V2029G	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0286702887082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.001	0.83351	D	.	.	.	.	.	.	0.273879	0.03789	N	1.555020	0.999999	0.08975	N	0.745	0.18958	N	-0.33	0.68474	T	-2.84	0.59873	D	0.094	0.13911	-0.9946	0.31405	T	0.215	0.57692	T	9	0.07202044	0.10694	T	0.02867	0.51308	D	0.068	0.19811	.	.	0.433847406099	0.43006	0.10532806005537113	0.10462	0.103297151089	0.11683	0.22677116096	0.01737	T	0.439285	0.78462	T	-0.136746	0.30408	T	-0.434202	0.29460	T	0.104405984282494	0.12834	T	0.465553	0.13627	T	0.19362557	0.41080	0.24311325	0.49748	0.19362557	0.41080	0.24311325	0.49746	-3.322	0.14022	T	0.12191335677195375	0.11623	0.074	0.05145	B	.;.	.;.	0.341076	0.07149	3.728	0.78075348530033739	0.12145	0.18078	0.20110	N	AEFBI	0.200773	0.32748	N	-0.979640985447426	0.09039	0.4261737	-1.05040319997707	0.08699	0.4289843	0.999710124545336	0.42101	0.446893	0.09132	0	0.491513	0.07743	0	0.463624	0.06942	0	0.530356	0.10902	0	.	.	5.53	-1.75	0.07598	-0.390000	0.07392	-0.307000	0.10069	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.788000	0.37229	0.0:0.3237:0.2209:0.4554	6.547	0.21611	643	0.63827	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	31.68	34	chr4	113354704	.	T	G	31.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.059;DP=294;ExcessHet=0;FS=34.24;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.322;SOR=4.608	GT:AD:DP:GQ:PL	./.:54,0:54:0:0,0,1079	3	0	1	2
chr4	118054114	118054114	G	A	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon2:c.G204A:p.M68I	.	427	1081	14	0	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00562235872519	0.0032	0.00159744	0.0033	0.0005	0.0032	0	0.0005	0.0049	0.0055	0.0014	0.0032406	501	154602	rs78812192	0.0034	0.0034	0.0035	0.0033	0.0045	0.0033	0.0033	0.0036	0.0036	0.0004	0.0029	0.0106	2.52e-05	0.0008	0.0045	0.0037	0.0036	0.0017	0.0025	0.0025	0.0023	0.0027	0.0052	0.0023	0.0022	0.0043	0.0039	0.0005	0	0.0052	0.0136	0	0.0004	0	0.0032	0.0014	0.0004	0.37	0.11550	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.820185	0.09184	N	0.924715	1	0.08975	N	1.04	0.26193	L	1.35	0.34648	T	0.58	0.02598	N	0.088	0.06587	-1.0192	0.23975	T	0.056	0.23413	T	10	0.0044923723	0.00092	T	0.005622	0.14530	T	0.030	0.07022	0.348	0.34436	0.372446077551	0.36852	0.38611961801463934	0.38526	0.509347028412	0.49074	0.231498658657	0.02081	T	0.162128	0.50666	T	-0.66809	0.00056	T	-0.731626	0.04254	T	0.000752385890629979	0.00007	T	0.149285	0.01243	T	0.05689058	0.11252	0.061674606	0.11947	0.05689058	0.11252	0.061674606	0.11947	-3.47	0.16014	T	.	.	0.115	0.22933	B	.	.	0.136099	0.05307	1.800	0.88002510401254874	0.17643	0.04083	0.09542	N	AEFI	0.069767	0.13823	N	-0.967093789489084	0.09313	0.4402422	-0.941043674313456	0.11131	0.5652214	0.989493441080729	0.31844	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.478617	0.07155	0	.	.	5.53	-0.893	0.10031	-0.547000	0.06145	-1.319000	0.05727	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.4642:0.2501:0.2857:0.0	5.668	0.16979	952	0.10565	Heparan sulphate-N-deacetylase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.005848	0.000000	0.008621	0.006098	0.007576	0.08333	1353.83	114	chr4	118054114	.	G	A	1353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.613;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.475;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1247	5	0	1	0
chr4	119158049	119158049	G	A	exonic	MYOZ2	.	nonsynonymous SNV	MYOZ2:NM_016599:exon4:c.G274A:p.V92M	Cardiomyopathy, hypertrophic, 16, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0126523133265	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239752760	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.114	0.36765	T	0.005	0.12996	B	0.009	0.14300	B	0.517782	0.11775	N	0.760872	1	0.08975	N	-0.625	0.02162	N	-0.04	0.63240	T	0.46	0.03140	N	0.151	0.15469	-1.0695	0.09523	T	0.073	0.29643	T	10	0.033884734	0.01578	T	0.012652	0.31409	T	0.028	0.06331	0.315	0.29096	0.446715556694	0.44294	0.13549641673551954	0.13473	0.178130518236	0.20040	0.331720650196	0.15194	T	0.069124	0.33631	T	-0.438228	0.01325	T	-0.685733	0.06639	T	0.0646093406113421	0.07873	T	0.531447	0.17660	T	0.035218224	0.04104	0.060813285	0.11643	0.037475184	0.04811	0.051089637	0.08150	-4.342	0.28761	T	0.08177786019513264	0.04257	0.065	0.01909	B	.	.	-0.025938	0.04108	0.969	0.91353219957705889	0.20616	0.01305	0.04528	N	AEFI	0.075630	0.15193	N	-1.40952490299209	0.02554	0.1129481	-1.37786463637186	0.03489	0.162855	0.00317704100628591	0.09972	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.7	-6.2	0.01894	-1.656000	0.02083	-1.928000	0.04482	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.979000	0.57723	0.3195:0.2643:0.2277:0.1885	0.969	0.01323	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	800.83	54	chr4	119158049	.	G	A	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.16;DP=243;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.538;SOR=0.957	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr4	121037174	121037174	C	T	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.G797A:p.R266H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0170409206107	7.7e-05	.	1.656e-05	0	8.72e-05	0	0	1.506e-05	0	0	1.29e-05	2	154602	rs375890636	3.283e-05	3.283e-05	3.403e-05	3.163e-05	0.0002	2.543e-05	2.249e-05	2.828e-05	2.507e-05	2.987e-05	0	0	0	0	0.0002	3.777e-05	4.967e-05	1.159e-05	1.974e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.418e-05	0	0	0	0	0	0	2.941e-05	0	0	0.157	0.23997	T	0.433	0.13595	T	0.663	0.40973	P	0.083	0.29179	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.39	0.68882	M	.	.	.	-0.83	0.22727	N	0.205	0.22742	-0.8830	0.49521	T	0.155	0.48602	T	9	0.1411655	0.26825	T	0.017041	0.38572	T	0.126	0.34673	.	.	0.534140917371	0.53064	0.5303897949143184	0.52962	0.44627287522	0.44504	0.379884064198	0.22240	T	0.020954	0.16402	T	-0.140352	0.29833	T	-0.259086	0.48916	T	0.162272021726783	0.18038	T	0.845015	0.52334	T	0.1119393	0.26449	0.08004242	0.18072	0.1119393	0.26448	0.08004242	0.18072	-4.213	0.26939	T	.	.	0.108	0.20391	B	.	.	2.735226	0.35810	20.0	0.97273132787841654	0.33144	0.97701	0.76514	D	AEFBI	0.806835	0.73104	D	-0.0322671733951723	0.40398	2.39838	-0.0482897132477239	0.37564	2.201151	0.986773495450609	0.31123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.04	0.46262	5.829000	0.69007	1.438000	0.26503	0.599000	0.40250	1.000000	0.71638	0.980000	0.30356	0.184000	0.21420	0.1279:0.8058:0.0:0.0662	11.179	0.47843	827	0.39843	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	0	0	.	.	.	.	.	.	.	.	0.08333	1627.83	130	chr4	121037174	.	C	T	1627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=525;ExcessHet=0;FS=2.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.932;SOR=0.914	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	5	0	1	0
chr4	122827093	122827093	-	GGCCGG	exonic	FGF2	.	nonframeshift insertion	FGF2:NM_002006:exon1:c.318_319insGGCCGG:p.G113_T114insRG	.	398	1121	2	1	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258501021	0.0002	0.0001	0.0002	0.0002	0.0014	0.0001	0.0001	0.0010	0.0009	0.0002	0	0	9.011e-05	0	0.0004	0.0001	0.0003	0.0014	0.0003	0.0003	0.0003	0.0003	0.0032	0.0002	0.0002	0.0020	0.0016	0.0002	0	0.0003	0	0.0004	0	0.0109	0.0002	0.0005	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	64.82	19	chr4	122827093	.	A	AGGCCGG	64.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=55;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.65;SOR=1.609	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,231	5	0	1	0
chr4	123256160	123256160	G	T	exonic	SPATA5	.	nonsynonymous SNV	SPATA5:NM_001345856:exon15:c.G2482T:p.D828Y,SPATA5:NM_145207:exon15:c.G2485T:p.D829Y	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive	434	1061	26	1	0	28	0.0130233	.	.	.	428275	not_provided|not_specified|Microcephaly-intellectual_disability-sensorineural_hearing_loss-epilepsy-abnormal_muscle_tone_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014698,MedGen:C4225276,OMIM:616577,Orphanet:457351	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.512	.	0.0042	0.0071885	0.0102	0.0021	0.0492	0.0030	0.0023	0.0069	0.0066	0.0086	0.0094759	1465	154602	rs35206443	0.0078	0.0078	0.0080	0.0077	0.0420	0.0077	0.0077	0.0404	0.0397	0.0019	0.0420	0.0084	0.0025	0.0029	0.0198	0.0069	0.0080	0.0091	0.0063	0.0063	0.0065	0.0061	0.0186	0.0060	0.0059	0.0168	0.0161	0.0024	0	0.0186	0.0072	0.0042	0.0027	0.0442	0.0062	0.0118	0.0083	0.001	0.78490	D	0.003	0.76473	D	0.489	0.36925	P	0.313	0.41496	B	0.002152	0.37138	N	0.163302	0.783887	0.29302	N	.	.	.	-3.57	0.94904	D	-5.03	0.82575	D	0.665	0.67391	0.242	0.86605	D	0.638	0.87336	D	10	0.0061918497	0.00139	T	.	.	.	0.512	0.79094	.	.	.	.	0.5655072548150628	0.56477	0.347071527529	0.36602	0.335899531841	0.15823	T	0.229589	0.59544	T	-0.155933	0.27387	T	0.0360934	0.72673	D	0.0574242337123736	0.06757	T	0.956304	0.83415	D	0.71545744	0.78909	0.61800754	0.77756	0.71545744	0.78911	0.61800754	0.77757	-8.504	0.64456	D	0.38576921051272656	0.47959	0.115	0.23005	B	.	.	2.707522	0.35383	19.88	0.81853234395700014	0.13893	0.69723	0.34301	D	AEFDBI	0.118458	0.23162	N	-0.283515088858939	0.29784	1.654859	-0.341584590906976	0.26770	1.480833	0.444252778732634	0.20480	0.693126	0.56070	0	0.633656	0.55848	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.87	3.08	0.34576	1.284000	0.32855	6.572000	0.55971	0.676000	0.76740	0.930000	0.32276	1.000000	0.68203	0.064000	0.16252	0.0:0.4705:0.5295:0.0	15.582	0.76195	127	0.94899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.025253	0.020380	0.011696	0.000000	0.008621	0.003049	0.011364	0.08333	2881.83	34	chr4	123256160	.	G	T	2881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=418;ExcessHet=0;FS=4.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.193;SOR=1.003	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	5	0	1	0
chr4	123401734	123401734	G	A	exonic	SPRY1	.	nonsynonymous SNV	SPRY1:NM_001258039:exon2:c.G143A:p.R48K,SPRY1:NM_005841:exon2:c.G143A:p.R48K,SPRY1:NM_199327:exon2:c.G143A:p.R48K,SPRY1:NM_001258038:exon3:c.G143A:p.R48K,SPRY1:NM_001375410:exon3:c.G143A:p.R48K	.	.	.	.	.	.	.	.	.	.	.	2246897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0166781239835	.	0.000199681	4.942e-05	0	0	0	0	1.498e-05	0	0.0003	4.53e-05	7	154602	rs537774102	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	0.999892	0.50595	D	2.885	0.83555	M	0.38	0.57575	T	-3.0	0.62343	D	0.539	0.56662	-0.3388	0.73879	T	0.325	0.69367	T	10	0.3157511	0.49003	T	0.016678	0.38050	T	0.209	0.49871	0.455	0.51938	0.757419263624	0.75521	0.6278242704732523	0.62715	0.0429839041337	0.04634	0.756880640984	0.75465	T	0.261013	0.77552	T	-0.193902	0.21688	T	-0.194337	0.55182	T	0.589395954306395	0.35982	D	0.932107	0.84151	D	0.45846146	0.64575	0.31892696	0.57857	0.45846146	0.64576	0.31892696	0.57856	-3.49	0.16292	T	.	.	0.598	0.68784	P	.;.;.;.;.;.	.;.;.;.;.;.	4.663984	0.74467	26.2	0.99565423209019688	0.72075	0.94194	0.60398	D	AEFDGBCI	0.780006	0.71203	D	0.646648287264665	0.76152	6.434004	0.58766467170754	0.74054	6.072326	0.999999997703445	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.94	0.44807	6.187000	0.71962	10.803000	0.83796	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8496:0.1504	14.213	0.65321	240	0.90628	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1024.83	37	chr4	123401734	.	G	A	1024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.825;DP=273;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.008;SOR=0.753	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	5	0	1	0
chr4	124672523	124672523	T	C	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.A217G:p.I73V,ANKRD50:NM_020337:exon4:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	3450734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0317257864326	.	0.000199681	0.0002	0	0	0	0	0	0	0.0009	8.41e-05	13	154602	rs551945003	4.328e-05	4.652e-05	1.94e-05	6.75e-05	0.0007	3.445e-05	3.127e-05	0.0006	0.0005	0	0	0	0	0	0	9.087e-07	3.379e-05	0.0007	3.287e-05	3.282e-05	1.286e-05	5.38e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.118	0.28148	T	0.029	0.54541	D	0.473	0.36591	P	0.112	0.31615	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.735	0.44892	L	-0.55	0.71307	T	-0.43	0.14390	N	0.415	0.45520	-0.5703	0.66003	T	0.258	0.62811	T	10	0.08559653	0.14465	T	0.031726	0.53738	D	0.146	0.38789	0.361	0.36548	0.557458292061	0.55406	0.22764843364260415	0.22679	0.493726229399	0.47964	0.843168735504	0.88577	D	0.033267	0.22843	T	-0.253542	0.13667	T	-0.230887	0.51686	T	0.126077327896809	0.15015	T	0.941706	0.78979	D	0.09059215	0.21204	0.09292059	0.21923	0.09059215	0.21204	0.09292059	0.21923	-5.556	0.45698	T	.	.	0.283	0.51609	B	.;.	.;.	3.137010	0.42413	21.5	0.98332551494680087	0.40358	0.98561	0.84110	D	AEBI	0.630145	0.61159	D	0.209382027575017	0.51653	3.344926	0.328453274089944	0.57217	3.886761	0.999999997306627	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	5.561000	0.67042	6.154000	0.54239	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	15.760	0.77839	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	509.83	30	chr4	124672523	.	T	C	509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.202;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=-0.384;SOR=0.602	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	5	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585: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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	45.68	41	chr4	134199956	.	C	T	45.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.334;DP=291;ExcessHet=0;FS=26.142;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.506;SOR=4.82	GT:AD:DP:GQ:PL	0/0:46,0:46:46:0,46,816	3	0	1	2
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.08333	3642.83	258	chr4	137530243	.	G	A	3642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=430;ExcessHet=0;FS=2.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=1.86;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1199	5	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,33:83:99:0|1:140563137_C_G:318,0,1302:140563137	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,33:83:99:0|1:140563137_C_G:318,0,1302:140563137	0	0	6	0
chr4	143187879	143187879	C	T	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon2:c.C736T:p.L246F,USP38:NM_032557:exon2:c.C736T:p.L246F	.	429	1092	1	0	0	1	0.000457666	.	.	.	4094049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0224088172508	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866210305	4.79e-06	4.788e-06	2.723e-06	6.877e-06	2.988e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.988e-05	0	0	0	1.873e-05	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.044	0.63918	D	0.992	0.64738	D	0.839	0.60107	P	0.000292	0.46274	D	0.085998	0.999878	0.50225	D	2.045	0.56016	M	0.96	0.42888	T	-1.86	0.45404	N	0.612	0.62866	-0.8257	0.53575	T	0.176	0.51974	T	10	0.37747425	0.53942	T	0.022409	0.45296	T	0.061	0.17616	0.22	0.14224	0.500488203797	0.49686	0.3439566903169494	0.34309	0.546934130114	0.51673	0.686873555183	0.65256	T	0.094569	0.39443	T	-0.0994531	0.36516	T	-0.380634	0.35647	T	0.889133751392365	0.53981	D	0.907509	0.67274	D	0.36581692	0.58274	0.19834225	0.43661	0.36581692	0.58274	0.19834225	0.43660	-5.996	0.46313	T	.	.	0.355	0.56869	A	.;.	.;.	5.547942	0.92026	32	0.99896275182867555	0.96895	0.77735	0.38256	D	AEFDGBI	0.195049	0.32210	N	0.526762337247954	0.68678	5.250319	0.514711539352014	0.68979	5.295355	0.999995595108857	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.657601	0.63696	0	.	.	5.2	4.35	0.51454	2.235000	0.42690	4.870000	0.45558	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.719:0.0:0.281	7.025	0.24113	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1424.06	38	chr4	143187879	.	C	T	1424.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=338;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=0.783;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1064	4	0	2	0
chr4	146639305	146639305	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGCGGC:p.G68_R69insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs530695040	0.0061	0.0053	0.0060	0.0061	0.0072	0.0059	0.0059	0.0063	0.0062	0.0072	0.0016	0.0020	0.0004	0.0173	0.0013	0.0064	0.0036	0.0006	0.0074	0.0074	0.0071	0.0077	0.0072	0.0070	0.0069	0.0066	0.0064	0.0071	0	0.0048	0.0017	0.0011	0.0235	0	0.0072	0.0054	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8349.33	49	chr4	146639305	.	T	TGGCGGCGGCGGC	8349.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.648;DP=288;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.39;ReadPosRankSum=0.816;SOR=1.385	GT:AD:DP:GQ:PL	0/0:0,0:38:99:1456,1484,1592	5	0	1	0
chr4	146639305	146639305	-	GGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGC:p.G68_R69insGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs530695040	0.0051	0.0045	0.0051	0.0051	0.0084	0.0050	0.0050	0.0078	0.0075	0.0019	0.0022	0.0018	0.0041	0.0017	0.0055	0.0052	0.0061	0.0084	0.0040	0.0041	0.0041	0.0040	0.0122	0.0038	0.0037	0.0096	0.0087	0.0020	0.0281	0.0051	0.0026	0.0050	0.0006	0	0.0047	0.0025	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8349.33	49	chr4	146639305	.	T	TGGCGGC	8349.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.648;DP=288;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.39;ReadPosRankSum=0.816;SOR=1.385	GT:AD:DP:GQ:PL	0/0:0,0:38:99:1456,1484,1592	5	0	1	0
chr4	151656246	151656246	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon11:c.G2566A:p.V856I,FAM160A1:NM_001109977:exon12:c.G2566A:p.V856I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00824945657894	.	.	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs369125491	7.361e-05	7.182e-05	5.359e-05	9.418e-05	0.0007	6.177e-05	5.769e-05	0.0005	0.0005	0	5.602e-05	0	0	0.0004	0.0002	1.761e-05	0.0001	0.0007	5.911e-05	5.905e-05	5.141e-05	6.716e-05	0.0004	3.076e-05	2.209e-05	7.31e-05	3.036e-05	2.408e-05	0	6.534e-05	0	0	0.0004	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.011	0.64786	D	0.999	0.77913	D	0.604	0.50922	P	.	.	.	.	0.99749	0.43934	D	2.53	0.73802	M	2.33	0.16492	T	-0.82	0.22508	N	0.258	0.29659	-1.0791	0.07524	T	0.084	0.32729	T	9	0.13535148	0.25756	T	0.008249	0.21853	T	0.198	0.48105	0.221	0.14371	0.134241683229	0.13084	0.31098400017869293	0.31011	.	.	0.742983937263	0.73412	T	0.037811	0.24611	T	-0.39076	0.02660	T	-0.439392	0.28876	T	0.236919277856821	0.22277	T	0.911109	0.68490	D	0.17616093	0.38513	0.1902983	0.42425	0.17616093	0.38513	0.1902983	0.42424	-9.364	0.70010	D	.	.	0.330	0.56760	B	.;.	.;.	5.171023	0.86670	29.0	0.99707609432796351	0.81074	0.99104	0.91284	D	AEFBI	0.887324	0.81947	D	0.759549624615598	0.83524	8.040334	0.776809052401499	0.88137	9.471377	0.999999999999997	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.45	5.45	0.79688	9.888000	0.98558	11.844000	0.97886	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.281	0.94039	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1053.83	36	chr4	151656246	.	G	A	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=241;ExcessHet=0;FS=3.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.313;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	5	0	1	0
chr4	152975942	152975942	A	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.A2651T:p.Q884L,FHDC1:NM_001371116:exon12:c.A2651T:p.Q884L	.	421	1089	12	0	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00620020924996	0.0005	0.00219649	0.0009	0	8.773e-05	0	0	0.0006	0.0013	0.0063	0.0008473	131	154602	rs146445614	0.0009	0.0009	0.0007	0.0011	0.0081	0.0009	0.0008	0.0075	0.0073	6.632e-05	0.0001	0.0001	0	0.0001	0.0009	0.0006	0.0009	0.0081	0.0007	0.0007	0.0005	0.0008	0.0091	0.0006	0.0005	0.0070	0.0062	7.216e-05	0	0.0003	0.0003	0.0004	0.0002	0	0.0006	0.0005	0.0091	0.153	0.24372	T	0.211	0.26631	T	0.0	0.02946	B	0.001	0.04355	B	0.188083	0.03230	N	1.516220	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-1.61	0.38734	N	0.093	0.07262	-1.0311	0.20099	T	0.037	0.16160	T	10	0.0037124455	0.00069	T	0.006	0.16259	T	0.029	0.06676	.	.	0.0611884634855	0.05136	0.16371323880876917	0.16291	0.112108087553	0.12649	0.390544235706	0.23746	T	0.003449	0.02859	T	-0.640738	0.00083	T	-0.689985	0.06390	T	0.0232113130686805	0.01049	T	0.29517	0.05454	T	0.102659814	0.24260	0.054198485	0.09276	0.102659814	0.24260	0.054198485	0.09275	-2.889	0.09034	T	.	.	0.086	0.11269	B	.;.	.;.	-0.747036	0.01215	0.061	0.8276254673245329	0.14362	0.14739	0.18560	N	AEFBCI	0.090031	0.18246	N	-1.65812260482119	0.01001	0.04340509	-1.7633260734973	0.00884	0.03951128	0.999985182775674	0.51787	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.65	-9.31	0.00548	-0.037000	0.12116	-0.528000	0.08651	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3948:0.3691:0.0:0.2361	7.738	0.27988	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1197.83	97	chr4	152975942	.	A	T	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=352;ExcessHet=0;FS=2.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.429;SOR=1.055	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,106,1536	5	0	1	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.000000	0.000000	0.000000	0.009202	0.011364	0.1667	1479.06	33	chr4	153397308	.	T	G	1479.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.442;SOR=0.725	GT:AD:DP:GQ:PL	0/1:39,26:65:99:642,0,940	4	0	2	0
chr4	153712573	153712573	A	-	exonic	RNF175	.	frameshift deletion	RNF175:NM_173662:exon8:c.768delT:p.H257Mfs*26	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs748534464	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.163e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0132	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1141.79	74	chr4	153712572	.	GA	G	1141.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=275;ExcessHet=0;FS=8.152;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.888;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,102,1530:.	5	0	1	0
chr4	153712577	153712577	C	G	splicing	RNF175	NM_173662:exon8:c.765-1G>C	.	.	.	424	1091	7	0	0	7	0.00319781	1.0000	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0.0003	0	0	0.0014	0	0	0.0005886	91	154602	rs201624616	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0001	0.0006	0.0134	0	0	0.0017	0.0003	0.0015	8.181e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0008	0.0007	7.217e-05	0	0.0012	0.0133	0	0	0	0.0005	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180841	0.72120	D	0.384	0.91568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316225	0.66020	24.9	0.99501987502154821	0.68089	0.98373	0.82117	D	AEFI	.	.	.	1.10981550956187	0.98312	17.94131	0.94201250299524	0.97156	15.67585	0.999999998906334	0.74766	0.164513	0.03853	0	0.059962	0.00310	0	0.183335	0.04453	0	0.058706	0.01089	0	0.987031	0.95367	4.69	4.69	0.58546	5.683000	0.67852	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.937	0.79508	655	0.62421	.	.	.	.	.	.	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	1141.83	74	chr4	153712577	.	C	G	1141.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=271;ExcessHet=0;FS=8.152;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.915;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,102,1530:.	5	0	1	0
chr4	154270010	154270010	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon14:c.C6467T:p.T2156I	.	13	1476	33	0	0	33	0.0110553	.	.	.	3210773	DCHS2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0018	0.0071885	0.0061	0.0004	0.0012	0.0005	0.0005	0.0022	0.0112	0.0337	0.0053557	828	154602	rs146032523	0.0040	0.0040	0.0031	0.0048	0.0352	0.0039	0.0038	0.0342	0.0337	0.0004	0.0017	0.0003	0.0002	0.0008	0.0091	0.0021	0.0042	0.0352	0.0025	0.0025	0.0021	0.0028	0.0357	0.0023	0.0022	0.0313	0.0296	0.0003	0.0208	0.0013	0	0.0004	9.468e-05	0	0.0021	0.0033	0.0357	.	.	.	.	.	.	.	.	.	.	.	.	0.000110	0.50451	D	0.080919	0.951162	0.37727	D	.	.	.	.	.	.	.	.	.	.	.	-0.6460	0.62887	T	0.226	0.59007	T	10	0.006926775	0.00157	T	.	.	.	0.239	0.54358	.	.	.	.	0.4371462445025686	0.43631	0.421972331622	0.42701	0.428028941154	0.28939	T	.	.	.	-0.315099	0.07307	T	-0.198234	0.54814	T	0.051825111248953	0.05817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37577	B	.	.	3.602285	0.50884	23.0	0.99540912594671249	0.70523	0.75788	0.37126	D	AEFI	0.170320	0.29722	N	0.240908584627223	0.53192	3.489131	0.180325613610028	0.48768	3.088515	1.91105380058075E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.55	3.78	0.42629	2.683000	0.46609	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0806:0.1454:0.774:0.0	9.152	0.36131	683	0.59664	Cadherin-like	.	.	.	.	.	Likely benign	0	0	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	0.007553	0.000000	0.004076	0.023392	0.050000	0.000000	0.006098	0.007576	0.08333	459.83	33	chr4	154270010	.	G	A	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.677;DP=222;ExcessHet=0;FS=4.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.322;SOR=1.387	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,926	5	0	1	0
chr4	154586731	154586731	A	G	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.T698C:p.V233A,FGA:NM_021871:exon5:c.T698C:p.V233A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0244593279094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.022	0.33445	B	0.023	0.30945	B	0.000022	0.00348	N	4.053270	0.999999	0.19989	N	1.905	0.50856	L	0.16	0.60610	T	-2.51	0.54546	D	0.072	0.08925	-0.9236	0.45056	T	0.165	0.50307	T	10	0.4967374	0.61310	T	0.024459	0.47448	T	0.192	0.47115	0.846	0.94965	0.710231983662	0.70770	0.3505311336511119	0.34967	0.0692597278946	0.07753	0.277234405279	0.07109	T	0.791809	0.94599	D	-0.162044	0.26445	T	-0.470542	0.25457	T	0.814254701137543	0.47352	D	0.40206	0.10263	T	0.24391563	0.47335	0.23381002	0.48580	0.24391563	0.47335	0.23381002	0.48579	-3.502	0.16459	T	.	.	0.390	0.58999	A	.;.	.;.	1.944600	0.24698	16.49	0.87269909453226946	0.17107	0.83253	0.42385	D	AEFGBCI	0.377603	0.46131	N	-0.541871555778687	0.20739	1.095536	-0.535020626357537	0.21204	1.146006	0.999996055757278	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.98	0.25351	2.073000	0.41144	4.641000	0.44155	0.756000	0.94297	0.603000	0.27772	0.257000	0.23957	0.006000	0.07323	0.8042:0.0:0.1958:0.0	9.084	0.35731	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1932.83	161	chr4	154586731	.	A	G	1932.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=354;ExcessHet=0;FS=4.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.256;SOR=0.636	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1268	5	0	1	0
chr4	155904040	155904040	G	T	exonic	TDO2	.	nonsynonymous SNV	TDO2:NM_005651:exon2:c.G58T:p.V20L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00768367933264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.05862	T	0.683	0.06052	T	0.0	0.02946	B	0.0	0.01387	B	0.144533	0.18175	N	0.591813	1	0.08975	N	-0.46	0.02758	N	.	.	.	-0.28	0.11547	N	0.136	0.13341	-1.0043	0.28666	T	0.019	0.07846	T	9	0.047316045	0.04033	T	0.007684	0.20378	T	0.022	0.04323	0.307	0.27806	0.0401082797425	0.02173	0.2023192322438967	0.20148	0.0252766451605	0.02574	0.221755892038	0.01414	T	0.102154	0.40959	T	-0.343456	0.05153	T	-0.731127	0.04277	T	0.0379780615801894	0.03329	T	.	.	.	0.03470662	0.03946	0.029658701	0.01328	0.03470662	0.03946	0.029658701	0.01328	-3.528	0.16826	T	.	.	0.068	0.02927	B	.	.	-1.399997	0.00360	0.007	0.16988982330159921	0.00477	0.03179	0.08160	N	AEFBI	0.376835	0.46083	N	-1.47792515964626	0.02006	0.08815696	-1.43825062443839	0.02878	0.1332229	0.0871820179271883	0.16028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-2.48	0.06052	-0.718000	0.05083	.	.	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.1498:0.1818:0.1601:0.5083	2.194	0.03667	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	709.83	34	chr4	155904040	.	G	T	709.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.083;DP=230;ExcessHet=0;FS=5.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.2;SOR=0.363	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1162	5	0	1	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F,RXFP1:NM_001253728:exon14:c.A1196T:p.Y399F,RXFP1:NM_001253730:exon14:c.A902T:p.Y301F,RXFP1:NM_001253727:exon15:c.A1376T:p.Y459F,RXFP1:NM_001253733:exon15:c.A827T:p.Y276F,RXFP1:NM_021634:exon15:c.A1295T:p.Y432F,RXFP1:NM_001253732:exon16:c.A899T:p.Y300F,RXFP1:NM_001363776:exon16:c.A1052T:p.Y351F	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	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	0.003024	0.005051	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.08333	888.83	34	chr4	158645088	.	A	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=237;ExcessHet=0;FS=2.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.52;SOR=1.125	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	5	0	1	0
chr4	159341677	159341677	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_001351727:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351728:exon14:c.C2165T:p.A722V,RAPGEF2:NM_014247:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351725:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351726:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351724:exon20:c.C2648T:p.A883V	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.19769410861	.	0.000399361	0.0007	0	0.0003	0	0	0	0	0.0051	0.0005951	92	154602	rs549339908	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.987e-05	2.236e-05	0	0	0	0.0010	3.597e-06	0.0002	0.0051	0.0001	0.0001	5.141e-05	0.0002	0.0035	8.66e-05	7.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0035	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.987	0.77487	D	0.000000	0.84330	D	0.046411	1	0.81001	D	3.65	0.94181	H	-0.58	0.71425	T	-3.67	0.70191	D	0.843	0.83885	0.640	0.92418	D	0.706	0.89904	D	10	0.07724005	0.12167	T	0.197694	0.86552	D	0.809	0.93816	0.838	0.94479	0.910330845944	0.90943	0.906913232815615	0.90664	1.77477102259	0.91327	0.80330312252	0.82468	D	0.596087	0.86986	D	0.0558042	0.59083	T	0.308749	0.88596	D	0.343511576734591	0.26762	T	0.990501	0.97045	D	0.6503522	0.75383	0.6419444	0.79078	0.6503522	0.75384	0.6419444	0.79079	-13.686	0.91992	D	.	.	0.964	0.90831	P	.;.;.	.;.;.	4.307824	0.65834	24.9	0.99928107718192161	0.99222	0.97451	0.74834	D	ALL	0.865847	0.78508	D	1.06286664936056	0.97383	16.03584	0.974724605747922	0.98075	17.37238	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.884000	0.85773	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	20.328	0.98707	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	38	chr4	159341677	.	C	T	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.849;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-1.645;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	5	0	1	0
chr4	166099403	166099403	G	A	exonic	TLL1	.	nonsynonymous SNV	TLL1:NM_012464:exon20:c.G2783A:p.R928Q	Atrial septal defect 6, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2414105	Atrial_septal_defect_6|not_provided|TLL1-related_disorder	MONDO:MONDO:0013123,MedGen:C2751315,OMIM:613087,Orphanet:1478|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.00873841127277	0.0010	0.000998403	0.0006	0.0003	0.0005	0.0001	0.0002	0.0008	0.0011	6.056e-05	0.0005757	89	154602	rs116616112	0.0006	0.0006	0.0006	0.0006	0.0012	0.0006	0.0005	0.0007	0.0007	0.0001	0.0010	0	2.521e-05	0.0001	0.0012	0.0007	0.0006	8.117e-05	0.0006	0.0006	0.0008	0.0004	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0.0044	0.0005	0	0.0002	0.0002	0	0.0010	0.0005	0.0004	0.177	0.23541	T	0.306	0.20100	T	0.729	0.44062	P	0.395	0.47621	B	0.013347	0.28869	U	0.323587	0.981555	0.39790	D	1.565	0.39561	L	2.27	0.17431	T	-0.6	0.17834	N	0.438	0.47672	-1.1490	0.01055	T	0.044	0.18948	T	10	0.033042967	0.01470	T	0.008738	0.23074	T	0.222	0.51872	.	.	0.503063991398	0.49945	0.3162779438732847	0.31540	0.426674521669	0.43039	0.344030320644	0.17039	T	0.043531	0.26531	T	-0.415716	0.01822	T	-0.433303	0.29561	T	0.037443054339881	0.03234	T	0.793521	0.43550	T	0.14457048	0.33178	0.106167816	0.25534	0.14457048	0.33178	0.106167816	0.25534	-6.871	0.53085	T	.	.	0.087	0.11414	B	.;.	.;.	4.651916	0.74163	26.1	0.99866210506431563	0.94457	0.98009	0.78839	D	AEFI	0.922621	0.89787	D	0.289271167855838	0.55604	3.724431	0.303693461057577	0.55755	3.738462	0.380373065547268	0.19955	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	4.89	0.63387	6.817000	0.75042	4.922000	0.46051	0.672000	0.70159	1.000000	0.71638	0.968000	0.29604	0.003000	0.05239	0.0:0.1275:0.8725:0.0	18.449	0.90643	874	0.30607	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1138.83	33	chr4	166099403	.	G	A	1138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.86;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.425;SOR=0.662	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1491	5	0	1	0
chr4	168139524	168139524	C	T	exonic	ANXA10	.	nonsynonymous SNV	ANXA10:NM_007193:exon3:c.C139T:p.R47C	.	437	1008	71	6	0	83	0.0395426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	0.0043	0.00658946	0.0077	0.0007	0.0014	0	0.0023	0.0078	0.0122	0.0222	0.0072185	1116	154602	rs111362741	0.0057	0.0058	0.0049	0.0065	0.0217	0.0056	0.0056	0.0209	0.0205	0.0006	0.0019	0.0136	0.0001	0.0031	0.0148	0.0049	0.0067	0.0217	0.0046	0.0046	0.0044	0.0048	0.0234	0.0043	0.0042	0.0199	0.0186	0.0005	0	0.0018	0.0142	0	0.0027	0.0034	0.0066	0.0043	0.0234	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.938	0.67350	D	0.001107	0.40219	N	0.211827	0.999991	0.58761	D	3.255	0.89877	M	2.64	0.12780	T	-7.05	0.93856	D	0.721	0.72299	-0.9796	0.35094	T	0.084	0.32929	T	10	0.009128243	0.00206	T	.	.	.	0.256	0.56694	.	.	0.465038187318	0.46130	0.81682934986423	0.81638	0.350543890961	0.36897	0.3914103508	0.23867	T	0.104133	0.41341	T	-0.337168	0.05586	T	-0.240175	0.50781	T	0.0607729894804198	0.07290	T	0.934107	0.75346	D	0.5716051	0.71148	0.5231502	0.72450	0.5716051	0.71150	0.5231502	0.72451	-9.039	0.67948	D	.	.	0.358	0.57091	A	.	.	4.892365	0.80333	27.3	0.99907038915296165	0.97726	0.86418	0.45694	D	ALL	0.395577	0.47238	N	0.593391845017597	0.72762	5.856912	0.478414431137515	0.66563	4.968259	0.999999999979975	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.72	4.85	0.62375	3.998000	0.56736	5.926000	0.51241	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1424:0.8576:0.0:0.0	15.067	0.71673	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011593	0.010101	0.004076	0.008772	0.050000	0.017241	0.018405	0.015152	0.08333	639.83	37	chr4	168139524	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.383;DP=250;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.16;SOR=0.532	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr4	176160948	176160948	C	T	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon19:c.C2531T:p.S844F,WDR17:NM_001378106:exon19:c.C2531T:p.S844F,WDR17:NM_001378104:exon20:c.C2696T:p.S899F,WDR17:NM_181265:exon20:c.C2696T:p.S899F,WDR17:NM_001350727:exon21:c.C2768T:p.S923F,WDR17:NM_001378103:exon21:c.C2768T:p.S923F,WDR17:NM_170710:exon21:c.C2768T:p.S923F	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	696.83	33	chr4	176160948	.	C	T	696.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.12;DP=231;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.314;SOR=0.997	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr4	176162121	176162121	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon20:c.G2632A:p.D878N,WDR17:NM_001378106:exon20:c.G2632A:p.D878N,WDR17:NM_001378104:exon21:c.G2797A:p.D933N,WDR17:NM_181265:exon21:c.G2797A:p.D933N,WDR17:NM_001350727:exon22:c.G2869A:p.D957N,WDR17:NM_001378103:exon22:c.G2869A:p.D957N,WDR17:NM_170710:exon22:c.G2869A:p.D957N	.	432	1086	4	0	0	4	0.00183824	.	.	.	2820282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0157253066431	0.0035	0.00159744	0.0028	0.0006	0.0009	0	0.0021	0.0043	0	0.0015	0.0027749	429	154602	rs148579014	0.0043	0.0044	0.0045	0.0042	0.0050	0.0043	0.0042	0.0049	0.0049	0.0004	0.0007	0.0035	0	0.0030	0.0005	0.0050	0.0046	0.0021	0.0026	0.0026	0.0026	0.0027	0.0044	0.0024	0.0023	0.0040	0.0038	0.0008	0	0.0007	0.0040	0	0.0025	0	0.0044	0.0005	0.0033	0.123	0.28271	T	0.26	0.23638	T	0.77	0.43887	P	0.411	0.44827	B	0.000021	0.55875	D	0.112987	0.999999	0.58761	D	2.175	0.60977	M	0.38	0.58176	T	-0.72	0.22078	N	0.534	0.56231	-0.5886	0.65276	T	0.282	0.65369	T	10	0.012596369	0.00270	T	0.015725	0.36624	T	0.159	0.41286	.	.	0.922754311206	0.92196	0.4543130370410806	0.45349	0.169914134058	0.19155	0.486896038055	0.37008	T	0.011125	0.09967	T	-0.407081	0.02079	T	-0.357527	0.38338	T	0.0411153845724279	0.03892	T	0.917608	0.70392	D	0.09502753	0.22355	0.08986318	0.21039	0.09502753	0.22355	0.08986318	0.21039	-7.734	0.59244	D	.	.	0.120	0.24867	B	.;.;.	.;.;.	3.803540	0.54822	23.5	0.99894746160900372	0.96819	0.98798	0.86991	D	AEFGI	0.891130	0.82680	D	0.540976914631386	0.69535	5.37067	0.624344427918629	0.76712	6.541862	0.999999999935801	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	8.974000	0.93007	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.862	0.96784	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	975.06	50	chr4	176162121	.	G	A	975.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.759;DP=264;ExcessHet=0.4139;FS=1.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.212;SOR=0.54	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	4	0	2	0
chr4	176168769	176168769	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378106:exon22:c.G2923A:p.D975N,WDR17:NM_001378105:exon23:c.G2944A:p.D982N,WDR17:NM_181265:exon23:c.G3088A:p.D1030N,WDR17:NM_001378104:exon24:c.G3109A:p.D1037N,WDR17:NM_001350727:exon25:c.G3181A:p.D1061N,WDR17:NM_001378103:exon25:c.G3181A:p.D1061N,WDR17:NM_170710:exon25:c.G3205A:p.D1069N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0329249949717	.	0.000399361	0.0005	0	0.0002	0	0	3.005e-05	0	0.0037	0.0004398	68	154602	rs574978015	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0.0002	0	2.532e-05	0	0.0002	3.871e-05	0.0002	0.0037	0.0001	0.0001	8.994e-05	0.0002	0.0025	9.74e-05	8.255e-05	0.0014	0.0011	0	0	6.54e-05	0	0	0	0.0034	0.0001	0	0.0025	0.02	0.50676	D	0.047	0.49663	D	0.917	0.50750	P	0.37	0.43538	B	0.002591	0.36278	N	0.268392	0.994681	0.42376	D	2.505	0.72935	M	0.44	0.57575	T	-0.92	0.24676	N	0.187	0.23758	-0.6827	0.61248	T	0.180	0.52644	T	10	0.011770129	0.00256	T	0.032925	0.54619	D	0.145	0.38592	.	.	0.82342218508	0.82175	0.5079307112053503	0.50715	0.511501246089	0.49225	0.421724498272	0.28074	T	0.010514	0.09491	T	-0.491768	0.00636	T	-0.481273	0.24311	T	0.0983436100609879	0.12174	T	0.952105	0.81652	D	0.108887576	0.25744	0.076495655	0.16948	0.108887576	0.25744	0.076495655	0.16948	-2.716	0.07955	T	.	.	0.089	0.15206	B	.;.;.	.;.;.	3.155491	0.42731	21.6	0.99858555729913656	0.93729	0.92693	0.56315	D	AEFI	0.526181	0.54864	D	0.390529622823843	0.60910	4.285172	0.398928333752041	0.61500	4.350831	0.0039092862468648	0.10332	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	4.26	0.49832	4.519000	0.60234	4.476000	0.43515	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0741:0.0:0.9259:0.0	13.774	0.62527	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	585.83	36	chr4	176168769	.	G	A	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.815;DP=243;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.865;SOR=0.443	GT:AD:DP:GQ:PL	0/1:44,23:67:99:596,0,1161	5	0	1	0
chr4	176711629	176711629	G	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574T:p.L192F	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00709646966142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32568	T	0.99	0.63424	D	0.74	0.55692	P	0.000002	0.62929	D	0.060984	0.999996	0.58761	D	1.165	0.29723	L	.	.	.	.	.	.	0.442	0.48042	-0.7268	0.59124	T	0.273	0.64432	T	9	0.41563517	0.56522	T	0.007096	0.18814	T	.	.	0.332	0.31843	0.372993862945	0.36913	0.23457238583144535	0.23372	.	.	0.52389973402	0.42176	T	0.500358	0.82098	D	-0.0598146	0.42937	T	-0.323696	0.42167	T	0.98143208026886	0.73910	D	0.871013	0.57621	D	0.729046	0.79670	0.56834745	0.75010	0.729046	0.79671	0.56834745	0.75011	-8.172	0.62236	D	.	.	0.237	0.47116	B	.	.	3.786447	0.54474	23.5	0.99893630150429635	0.96742	0.93267	0.57762	D	AEFDGBIJ	0.738481	0.68334	D	0.594229245697589	0.72814	5.865255	0.647522809529533	0.78427	6.873986	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	56.1	43	chr4	176711629	.	G	A	56.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.634;DP=323;ExcessHet=0;FS=106.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=2.6;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,0:62:99:0|1:176711629_G_C:0,166,2365:176711629	5	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	63.8	43	chr4	176711631	.	G	C	63.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.284;DP=357;ExcessHet=0.4139;FS=106.274;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=2.06;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,7:62:22:0|1:176711629_G_C:0,22,2201:176711629	3	0	2	1
chr4	183506316	183506316	C	T	exonic	ING2	.	nonsynonymous SNV	ING2:NM_001291959:exon1:c.C50T:p.P17L	.	.	.	.	.	.	.	.	0.0001	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00379177346905	.	0.000399361	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001035	16	154602	rs182791509	0.0002	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	4.097e-05	0.0005	0.0004	0	0	0.0007	0.0001	0.0002	0.0006	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	2.406e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0.0004	0.006	0.61437	D	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.7	0.02163	N	.	.	-1.0299	0.20487	T	0.057	0.23942	T	7	0.009250671	0.00209	T	0.003792	0.08837	T	0.016	0.02506	.	.	0.329020015101	0.32502	.	.	.	.	.	.	.	0.041368	0.25834	T	-0.485707	0.00686	T	-0.570162	0.15434	T	0.0376308895647526	0.03267	T	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41402	B	.	.	0.152998	0.05450	1.919	0.81160138949359961	0.13549	0.01597	0.05185	N	ALL	0.054092	0.09803	N	-1.13006353562555	0.06114	0.2805923	-1.21276692302849	0.05705	0.272537	0.999999999999231	0.74766	0.006267	0.00052	3	0.093493	0.02558	3	0.47417	0.07244	0	0.003489	0.00041	3	.	.	4.25	-0.825	0.10263	-0.959000	0.03963	-3.761000	0.02554	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.1491:0.4521:0.1367:0.262	1.58	0.02474	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	.	.	.	.	.	.	.	.	0.08333	1443.83	34	chr4	183506316	.	C	T	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.582;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.78;SOR=0.697	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	5	0	1	0
chr4	185431981	185431981	G	T	splicing	C4orf47	NM_001114357:exon2:c.101-1G>T	.	.	.	435	1085	2	0	0	2	0.00092081	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0.0043	0.0023	0	0.0005	0.0004981	77	154602	rs199811696	0.0022	0.0021	0.0022	0.0022	0.0024	0.0021	0.0021	0.0023	0.0023	0.0004	0.0004	0	0	0.0051	0.0007	0.0024	0.0015	0.0006	0.0020	0.0021	0.0022	0.0019	0.0033	0.0019	0.0018	0.0030	0.0028	0.0004	0	0.0008	0	0	0.0051	0	0.0033	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0384784	0.56847	T	0.283036	0.87288	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.325442	0.89380	30	0.99551436579381158	0.71148	0.97667	0.76276	D	AEFI	.	.	.	1.14232583742614	0.98844	19.58968	0.986511874353867	0.98349	18.03835	0.999999991350419	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.078618	0.02440	0	0.057018	0.00518	0	0.986797	0.95047	5.27	5.27	0.73797	7.668000	0.82869	9.770000	0.81549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.483	0.90769	932	0.16191	.;.;.	.	.	.	.	.	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	372.83	20	chr4	185431981	.	G	T	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=148;ExcessHet=0;FS=1.293;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.503;SOR=0.446	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,738	5	0	1	0
chr4	185458801	185458801	G	T	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.C1675A:p.L559I,CCDC110:NM_152775:exon6:c.C1786A:p.L596I	.	870	651	1	0	0	1	0.00076746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0101978936003	0.0017	.	0.0019	0.0002	0.0003	0	0.0055	0.0028	0.0011	0.0004	0.0018046	279	154602	rs34739951	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0003	0.0004	0	0	0.0048	0.0007	0.0019	0.0014	0.0004	0.0016	0.0016	0.0017	0.0015	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0009	0	0	0.0051	0.0103	0.0023	0.0014	0	0.088	0.34269	T	0.196	0.27943	T	0.973	0.57599	D	0.73	0.55268	P	0.097662	0.20016	N	0.359994	1	0.08975	N	2.595	0.75868	M	1.42	0.33189	T	-0.52	0.16799	N	0.355	0.39659	-1.0478	0.15016	T	0.089	0.34216	T	10	0.006053984	0.00136	T	0.010198	0.26456	T	0.082	0.23913	.	.	0.173771789658	0.16945	0.07411402741532032	0.07348	0.45845590994	0.45458	0.414809584618	0.27122	T	0.005224	0.15260	T	-0.530908	0.00379	T	-0.539067	0.18389	T	0.0277346997257988	0.01649	T	0.776122	0.40827	T	0.048422784	0.08436	0.04904962	0.07414	0.048422784	0.08435	0.04904962	0.07414	-3.989	0.23639	T	.	.	0.088	0.13362	B	.;.;.	.;.;.	1.622276	0.20720	14.88	0.98725095905510241	0.45259	0.03545	0.08742	N	AEFI	0.045571	0.07468	N	-0.0286496072383525	0.40562	2.410871	-0.148985467089346	0.33447	1.913366	0.992643380137893	0.32916	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.55	1.59	0.22622	0.063000	0.14285	2.471000	0.32897	0.676000	0.76740	0.052000	0.21487	1.000000	0.68203	0.828000	0.39026	0.1604:0.2481:0.4092:0.1823	1.839	0.02955	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	791.83	42	chr4	185458801	.	G	T	791.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.733;DP=250;ExcessHet=0;FS=3.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.686;SOR=0.307	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr4	186706855	186706855	A	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.T2973G:p.F991L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0178141944692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.011	0.64786	D	0.282	0.32132	B	0.345	0.42592	B	0.000032	0.55875	D	0.125147	0.998859	0.45564	D	2	0.54354	M	0.71	0.51228	T	-4.6	0.78976	D	0.352	0.46928	-0.8993	0.48064	T	0.174	0.51753	T	10	0.49383608	0.61149	T	0.017814	0.39652	T	0.144	0.38394	0.547	0.66156	0.602534368506	0.59935	0.3504403825339987	0.34958	0.251250507196	0.27702	0.689790487289	0.65676	T	0.341208	0.71013	T	-0.140875	0.29750	T	-0.440133	0.28794	T	0.975719273090363	0.71056	D	0.950105	0.80888	D	0.41950747	0.62059	0.3225475	0.58193	0.41950747	0.62059	0.3225475	0.58192	-11.162	0.80539	D	.	.	0.955	0.87439	P	.;.	.;.	2.646175	0.34442	19.63	0.99827960287315087	0.91026	0.89328	0.49726	D	AEFBCI	0.562960	0.57034	D	-0.0483082183801902	0.39678	2.343774	-0.0378005800845535	0.38022	2.234294	0.999900546802182	0.45458	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.615788	0.45269	1	.	.	4.67	2.2	0.26966	2.884000	0.48261	0.021000	0.13590	-0.053000	0.16966	1.000000	0.71638	0.023000	0.20922	0.948000	0.49324	0.8481:0.0:0.1519:0.0	9.073	0.35667	949	0.11373	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3260.83	146	chr4	186706855	.	A	C	3260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=756;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.241;SOR=0.711	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	5	0	1	0
chr4	186707592	186707592	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A2236G:p.T746A	.	433	1064	24	1	0	26	0.0120706	.	.	.	734578	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00199681	0.0017	0.0001	0.0004	0	0	0.0005	0.0022	0.0099	0.0014618	226	154602	rs372906523	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	5.974e-05	0.0004	0.0014	2.519e-05	0	0.0040	0.0003	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	7.217e-05	0	0.0002	0.0012	0	0	0	0.0004	0.0014	0.0077	0.33	0.13131	T	0.176	0.29843	T	0.0	0.02946	B	0.003	0.08700	B	0.000094	0.51296	D	0.202552	0.775	0.29395	N	-0.06	0.04898	N	0.72	0.50976	T	-0.84	0.22944	N	0.047	0.02559	-1.0245	0.22246	T	0.059	0.24908	T	10	0.01055342	0.00234	T	.	.	.	0.048	0.13305	.	.	0.241664281697	0.23763	0.20750701503381078	0.20666	0.0949219852667	0.10718	0.296818077564	0.09928	T	0.091958	0.38904	T	-0.561521	0.00249	T	-0.571828	0.15283	T	0.00803127333825077	0.00095	T	0.689731	0.32156	T	0.056769855	0.11213	0.036439214	0.03093	0.050833844	0.09244	0.042284794	0.05000	-3.188	0.12334	T	.	.	0.073	0.04640	B	.;.	.;.	2.579197	0.33439	19.34	0.96441929633970203	0.29830	0.89859	0.50602	D	AEFBCI	0.464412	0.51292	N	-0.472804261906456	0.22975	1.230519	-0.284387891058474	0.28611	1.596661	0.999998175127888	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.99	3.78	0.42629	1.942000	0.39870	2.062000	0.30399	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.2088:0.0871:0.0:0.704	4.981	0.13509	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	1780.83	110	chr4	186707592	.	T	C	1780.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=625;ExcessHet=0;FS=2.722;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.909;SOR=0.7	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1791,0,2445	5	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2	77.8	17	chr4	189953101	.	C	T	77.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.213;DP=69;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=51.78;MQRankSum=-2.151;QD=2.59;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:24:.:.:0,24,360:.	3	0	2	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	79.22	17	chr4	189953126	.	G	T	79.22	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.497;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=52.31;MQRankSum=-2.136;QD=2.73;ReadPosRankSum=1.84;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,174:.	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	306.08	90	chr4	189957425	.	A	G	306.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.484;DP=465;ExcessHet=1.383;FS=2.032;MLEAC=3;MLEAF=0.25;MQ=47.23;MQRankSum=-0.269;QD=1.24;ReadPosRankSum=-0.094;SOR=0.908	GT:AD:DP:GQ:PL	0/1:77,12:89:58:58,0,2073	3	0	3	0
chr5	192256	192256	C	T	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.C718T:p.R240W	.	427	1094	1	0	0	1	0.00045683	.	.	.	4160728	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0212389285348	8e-05	.	0.0001	0	0.0006	0	0	0.0001	0.0027	0	5.82e-05	9	154602	rs377130453	0.0001	0.0001	0.0001	0.0001	0.0003	9.221e-05	8.721e-05	0.0002	0.0002	0	4.653e-05	0	0	0	0	0.0001	3.359e-05	0.0003	3.282e-05	3.937e-05	2.569e-05	4.028e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.015	0.52492	D	0.02	0.58613	D	0.997	0.70673	D	0.648	0.52381	P	0.232320	0.15893	N	0.651527	1	0.08975	N	1.5	0.37844	L	0.6	0.53731	T	-3.16	0.64246	D	0.285	0.32259	-0.9123	0.46569	T	0.192	0.54463	T	10	0.21805635	0.38436	T	0.021239	0.43978	T	0.133	0.36157	.	.	0.389596023526	0.38570	0.4655510411962424	0.46474	0.602039044817	0.55232	0.435776978731	0.30000	T	0.066939	0.33072	T	-0.339934	0.05392	T	-0.435925	0.29265	T	0.326973050832748	0.26103	T	0.894311	0.63332	D	0.14725848	0.33672	0.19091831	0.42521	0.14725848	0.33672	0.19091831	0.42521	-6.761	0.52268	T	.	.	0.121	0.25166	B	.	.	2.860667	0.37796	20.6	0.99669257803353761	0.78458	0.19858	0.20823	N	AEFDGBCI	0.401343	0.47587	N	-0.271553114810775	0.30252	1.685047	-0.36296543611438	0.26111	1.440165	0.999917094546583	0.45857	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	3.54	0.39650	0.678000	0.24956	1.022000	0.23413	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.295000	0.24381	0.3032:0.6968:0.0:0.0	12.549	0.55563	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1789.83	34	chr5	192256	.	C	T	1789.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.87;DP=295;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.6;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	5	0	1	0
chr5	205824	205824	C	T	exonic	CCDC127	.	nonsynonymous SNV	CCDC127:NM_145265:exon3:c.G256A:p.A86T	.	433	1053	35	1	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0042	0.00678914	0.0062	0.0011	0.0059	0.0001	0.0008	0.0060	0.0066	0.0162	0.0059443	919	154602	rs145153903	0.0060	0.0060	0.0057	0.0063	0.0316	0.0059	0.0059	0.0278	0.0264	0.0014	0.0050	0.0048	7.557e-05	0.0018	0.0316	0.0060	0.0060	0.0128	0.0047	0.0047	0.0048	0.0046	0.0158	0.0044	0.0043	0.0129	0.0119	0.0017	0	0.0047	0.0049	0.0002	0.0013	0.0068	0.0067	0.0071	0.0158	0.067	0.35918	T	0.014	0.62352	D	0.999	0.77913	D	0.864	0.61462	P	0.000000	0.84330	D	0.047350	0.999988	0.54805	D	2.6	0.76081	M	0.88	0.46028	T	-2.07	0.47344	N	0.395	0.43610	-0.7261	0.59159	T	0.172	0.51468	T	10	0.004016757	0.00078	T	.	.	.	0.158	0.41098	.	.	0.66879460378	0.66600	0.4770682530751477	0.47626	0.748519116031	0.63645	0.646072626114	0.59428	T	0.109214	0.42290	T	-0.361365	0.04054	T	-0.280176	0.46785	T	0.0153798379553024	0.00343	T	0.927007	0.73102	D	0.15596347	0.35220	0.18596196	0.41740	0.15596347	0.35220	0.18596196	0.41739	-4.564	0.31716	T	.	.	0.236	0.46949	B	.	.	4.429426	0.68673	25.3	0.99925958010282034	0.99042	0.98477	0.83190	D	AEFGBI	0.662197	0.63215	D	0.513168609834142	0.67868	5.139405	0.437856301735222	0.63941	4.638256	0.999999999322867	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	7.099000	0.76634	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.1533:0.8467:0.0:0.0	13.918	0.63419	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.020202	0.012228	0.032164	0.000000	0.043103	0.018293	0.011364	0.08333	1097.83	33	chr5	205824	.	C	T	1097.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.987;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.298;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	5	0	1	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M,SLC9A3:NM_004174:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	421	1078	21	2	0	25	0.0114626	.	.	YES	1072823	not_provided|SLC9A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Likely benign	0	0	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	0.005061	0.000000	0.002732	0.000000	0.000000	0.025862	0.003106	0.007634	0.08333	1161.83	37	chr5	484656	.	C	T	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.636;DP=269;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.594;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	5	0	1	0
chr5	618996	618996	T	G	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon2:c.T89G:p.L30R	.	436	1085	1	0	0	1	0.000460617	.	.	.	2311258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.00845172351543	.	.	4.123e-05	0	0	0	0	2.999e-05	0.0011	0.0001	5.17e-05	8	154602	rs745962439	1.717e-05	1.71e-05	1.094e-05	2.346e-05	0.0002	1.179e-05	9.96e-06	7.144e-05	5.496e-05	0	0	0	0	0	0.0002	8.131e-06	6.642e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.98	0.74843	D	0.000081	0.52346	D	0.080822	0.993966	0.42113	D	2.38	0.68558	M	1.47	0.31987	T	-3.58	0.69118	D	0.855	0.85132	-0.9484	0.41245	T	0.121	0.42208	T	10	0.96088153	0.95497	D	0.008452	0.22357	T	0.414	0.72479	0.802	0.92089	0.545475791818	0.54202	0.7579926188907801	0.75747	0.424414455339	0.42871	0.748805642128	0.74271	T	0.396187	0.75488	T	-0.0767899	0.40235	T	-0.0559311	0.66615	D	0.895860910415649	0.54749	D	0.627737	0.24333	T	0.6304544	0.74322	0.516641	0.72072	0.6304544	0.74324	0.516641	0.72073	-12.941	0.89118	D	.	.	0.693	0.72675	P	.	.	4.224316	0.63925	24.6	0.99682286546443166	0.79307	0.89649	0.50249	D	AEFDBCI	0.510494	0.53952	D	0.417816794798607	0.62402	4.455496	0.392556619481928	0.61104	4.306132	0.999999999967476	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	4.029000	0.56964	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:0.0:0.0:1.0	12.985	0.57988	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	.	.	.	.	.	.	.	.	0.08333	976.83	33	chr5	618996	.	T	G	976.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.089;DP=232;ExcessHet=0;FS=4.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=1.46;SOR=0.284	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	5	0	1	0
chr5	637563	637563	G	T	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon7:c.G951T:p.L317F	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00324495557901	0.0004	0.00159744	0.0012	0	0.0002	0	0	0.0007	0.0011	0.0061	0.0010543	163	154602	rs150033054	0.0006	0.0006	0.0004	0.0008	0.0054	0.0006	0.0006	0.0050	0.0049	0.0001	0.0003	0.0064	0	0	0.0040	0.0001	0.0011	0.0054	0.0005	0.0005	0.0004	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	2.405e-05	0	0.0010	0.0055	0	0	0.0034	0.0002	0.0005	0.0054	0.033	0.44358	D	0.07	0.43721	T	0.232	0.30664	B	0.118	0.32088	B	0.735500	0.06396	N	1.136510	1	0.08975	N	1.75	0.45442	L	2.7	0.12162	T	-0.86	0.23372	N	0.117	0.10626	-0.9808	0.34817	T	0.037	0.16073	T	10	0.004119903	0.00081	T	0.003245	0.07147	T	0.027	0.05988	0.112	0.02175	0.156986980423	0.15292	0.08609404244943407	0.08543	0.239248816487	0.26478	0.274086475372	0.06681	T	0.04308	0.26389	T	-0.632771	0.00092	T	-0.680203	0.06972	T	0.014869069177222	0.00315	T	0.305369	0.05850	T	0.050137132	0.09012	0.063994564	0.12761	0.050137132	0.09011	0.063994564	0.12760	-4.731	0.33777	T	.	.	0.084	0.09917	B	.	.	1.335271	0.17408	13.15	0.98905530388145735	0.48272	0.12029	0.17015	N	AEFDGBCI	0.039193	0.05659	N	-0.637750247959347	0.17818	0.920143	-0.697870215812265	0.17013	0.9027411	0.855436865648317	0.25123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	2.94	0.33188	1.309000	0.33145	0.959000	0.22978	0.676000	0.76740	0.047000	0.21291	0.000000	0.08366	0.011000	0.09372	0.2084:0.0:0.7916:0.0	6.797	0.22915	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	0.004032	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.007576	0.08333	1136.83	34	chr5	637563	.	G	T	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.152;DP=286;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.063;SOR=0.78	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1360	5	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1667	86.06	43	chr5	840546	.	A	G	86.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.14;DP=882;ExcessHet=0.4139;FS=8.623;MLEAC=2;MLEAF=0.167;MQ=58.52;MQRankSum=-13.13;QD=0.12;ReadPosRankSum=-1.758;SOR=1.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	4	0	2	0
chr5	886135	886135	G	A	exonic	BRD9	.	nonsynonymous SNV	BRD9:NM_001375862:exon8:c.C895T:p.R299C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1035677256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0.0002	6.722e-05	0.0010	7.58e-05	6.285e-05	0.0004	0.0003	0.0001	0	0	0	0.0004	9.423e-05	0	7.357e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	75.61	1	chr5	886135	.	G	A	75.61	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=25.2;SOR=1.179	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	4	1	0	1
chr5	2749409	2749409	C	T	exonic	IRX2	.	nonsynonymous SNV	IRX2:NM_001134222:exon2:c.G628A:p.G210S,IRX2:NM_033267:exon2:c.G628A:p.G210S	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.020724752183	.	.	1.675e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765950888	1.027e-05	1.026e-05	8.174e-06	1.238e-05	0.0002	6.17e-06	4.89e-06	9.794e-05	7.84e-05	0	0	0	0	0	0	8.996e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	0.001	0.07471	B	0.002	0.06944	B	0.009903	0.30147	N	0.363507	0.915761	0.36534	D	0.03	0.08032	N	-0.12	0.64630	T	-0.26	0.11185	N	0.152	0.15609	-0.9787	0.35299	T	0.068	0.27811	T	10	0.056141526	0.06246	T	0.020725	0.43381	T	0.094	0.27141	0.285	0.24280	0.309278343525	0.30543	0.049438261601896856	0.04886	0.424734613468	0.42894	0.540158033371	0.44467	T	0.045978	0.27287	T	-0.384338	0.02924	T	-0.553183	0.17021	T	0.0460137450161659	0.04786	T	0.749125	0.37025	T	0.06849804	0.14928	0.042017326	0.04908	0.06849804	0.14928	0.042017326	0.04907	-3.879	0.21988	T	.	.	0.072	0.05060	B	.;.	.;.	2.063882	0.26247	17.05	0.90072956363874679	0.19357	0.46357	0.27742	N	AEFDBCI	0.231088	0.35437	N	-0.547837743421128	0.20551	1.084228	-0.346008515790949	0.26633	1.472343	0.99999999665867	0.74766	0.72623	0.87236	0	0.573888	0.26702	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.85	3.84	0.43422	2.471000	0.44786	4.730000	0.44549	-0.194000	0.09177	0.992000	0.37556	1.000000	0.68203	0.112000	0.18829	0.3326:0.4402:0.0:0.2271	1.918	0.03102	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1556.83	35	chr5	2749409	.	C	T	1556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=264;ExcessHet=0;FS=0.986;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=-1.104;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1199	5	0	1	0
chr5	6623227	6623227	C	T	exonic	NSUN2	.	nonsynonymous SNV	NSUN2:NM_001193455:exon4:c.G419A:p.R140Q,NSUN2:NM_017755:exon5:c.G524A:p.R175Q	Mental retardation, autosomal recessive 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00348143134696	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs778979236	1.992e-05	2.121e-05	2.05e-05	1.934e-05	0.0001	1.398e-05	1.208e-05	5.501e-05	4.118e-05	0	0	0	0	0	0	1.801e-05	0	0.0001	1.324e-05	1.317e-05	2.586e-05	0	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	1.0	0.00964	T	0.71	0.05525	T	0.003	0.11197	B	0.007	0.12992	B	0.018013	0.27584	N	0.448973	1	0.81001	D	-0.61	0.02200	N	1.43	0.32958	T	0.88	0.01893	N	0.245	0.29659	-0.9881	0.33077	T	0.020	0.08266	T	10	0.057960212	0.06740	T	0.003481	0.07878	T	0.059	0.16972	0.473	0.54859	0.282416095408	0.27849	0.08046845093186249	0.07981	0.824915363401	0.67344	0.270058959723	0.06148	T	0.034139	0.23202	T	-0.469067	0.00861	T	-0.66325	0.08049	T	0.0302337608142367	0.02025	T	0.893711	0.63166	D	0.01971735	0.00509	0.026965803	0.00817	0.01971735	0.00508	0.026965803	0.00817	-1.266	0.01348	T	0.07691063429642532	0.03555	0.051	0.00259	B	.;.	.;.	1.841102	0.23390	16.00	0.40639192039213073	0.02881	0.17320	0.19786	N	AEFDBCI	0.030627	0.03121	N	-1.03028860785232	0.07980	0.3725845	-0.807134667552818	0.14324	0.7477991	0.999995923022593	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.26	2.73	0.31266	3.746000	0.54846	1.404000	0.26222	-0.254000	0.07082	1.000000	0.71638	0.960000	0.29291	0.237000	0.22922	0.0:0.2175:0.0:0.7825	9.174	0.36263	851	0.35303	SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	688.83	33	chr5	6623227	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.334;DP=247;ExcessHet=0;FS=3.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.88;SOR=0.702	GT:AD:DP:GQ:PL	0/1:31,29:60:99:699,0,790	5	0	1	0
chr5	13810143	13810143	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon45:c.C7525T:p.R2509C	Ciliary dyskinesia, primary, 3, with or without situs inversus	2	1519	1	0	0	1	0.000329056	.	.	YES	683675	Primary_ciliary_dyskinesia|DNAH5-related_disorder|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0255704970991	.	0.00159744	0.0034	0	0	0	0	0	0	0.0062	0.0004334	67	154602	rs531393117	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0002	1.855e-06	0.0002	0.0054	0.0002	0.0002	0.0001	0.0002	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	0.142	0.25457	T	.	.	.	0.007	0.14184	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.56	0.29602	T	-4.64	0.79316	D	0.373	0.41459	-1.0131	0.25943	T	0.103	0.37844	T	10	0.007804841	0.00177	T	0.02557	0.48532	D	0.168	0.42943	.	.	0.509996732195	0.50639	0.7408422689674172	0.74029	0.400050302579	0.41012	0.420968711376	0.27969	T	0.562956	0.85402	D	-0.448939	0.01146	T	-0.415312	0.31613	T	0.234890868183177	0.22183	T	0.549745	0.18930	T	0.23355651	0.46162	0.18689778	0.41890	0.23355651	0.46162	0.18689778	0.41889	-5.974	0.46062	T	0.2027718263426609	0.26980	0.124	0.26200	B	.	.	2.675502	0.34885	19.75	0.97217079671221762	0.32883	0.88983	0.49183	D	AEFDI	0.416081	0.48468	N	-0.148793103831869	0.35285	2.024849	-0.0899562798883155	0.35804	2.075836	0.165288716260561	0.17655	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	4.53	0.55009	1.889000	0.39352	1.757000	0.28522	0.670000	0.69193	0.972000	0.34453	0.228000	0.23763	0.647000	0.32611	0.1452:0.0:0.8548:0.0	11.473	0.49527	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002153	0.000000	0.001471	0.003030	0.000000	0.000000	0.000000	0.003968	0.08333	801.83	55	chr5	13810143	.	G	A	801.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=226;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-2.023;SOR=0.498	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	5	0	1	0
chr5	13859595	13859595	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon30:c.C4807A:p.P1603T	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1513	8	1	0	10	0.00329381	.	.	.	521032	DNAH5-related_disorder|Primary_ciliary_dyskinesia_3|not_provided|Primary_ciliary_dyskinesia	.|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.544	.	.	0.00599042	0.0027	9.615e-05	0.0002	0	0	0	0.0011	0.0197	0.0024062	372	154602	rs369137751	0.0012	0.0012	0.0007	0.0016	0.0184	0.0011	0.0011	0.0176	0.0173	2.988e-05	6.708e-05	0	0	0	0.0007	7.196e-06	0.0014	0.0184	0.0008	0.0008	0.0004	0.0011	0.0239	0.0006	0.0006	0.0203	0.0190	0	0	0	0	0	0	0	0	0	0.0239	0.003	0.68238	D	.	.	.	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.04	0.96988	H	0.08	0.61559	T	-7.34	0.94594	D	0.871	0.86833	0.448	0.89805	D	0.576	0.84694	D	10	0.015208662	0.00319	T	.	.	.	0.544	0.81018	.	.	0.893911037781	0.89286	0.6982850765530428	0.69769	0.45399419746	0.45084	0.550978839397	0.45995	T	0.700706	0.91380	D	-0.124498	0.32390	T	0.063986	0.74510	D	0.28669547683361	0.24451	T	0.907809	0.67374	D	0.8978088	0.91188	0.89369696	0.94529	0.8978088	0.91189	0.89369696	0.94529	-10.005	0.73942	D	0.6717298407254222	0.74679	0.346	0.56337	A	.	.	3.854694	0.55867	23.7	0.99666913795704126	0.78330	0.96807	0.71045	D	AEFDGCI	0.913125	0.87469	D	1.03530043822916	0.96730	15.06755	0.936292751152072	0.96969	15.39783	0.999999999999998	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.34	5.34	0.75982	7.903000	0.86133	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.462	0.94913	754	0.51307	Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	624.83	33	chr5	13859595	.	G	T	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.839;DP=230;ExcessHet=0;FS=7.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.186;SOR=1.96	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	5	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.08333	2577.83	264	chr5	13900212	.	G	T	2577.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.001;DP=443;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.46;SOR=0.585	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1285	5	0	1	0
chr5	14681484	14681484	G	T	exonic	OTULIN	.	nonsynonymous SNV	OTULIN:NM_138348:exon4:c.G345T:p.Q115H	Autoinflammation, panniculitis, and dermatosis syndrome, Autosomal recessive	432	1038	50	2	0	54	0.0253521	.	.	.	709711	OTULIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00477743780154	0.0066	0.00219649	0.0065	0.0010	0.0055	0.0001	0.0018	0.0089	0.0045	0.0064	0.0064747	1001	154602	rs147790160	0.0067	0.0067	0.0065	0.0068	0.0347	0.0065	0.0065	0.0308	0.0293	0.0014	0.0056	0.0302	7.572e-05	0.0011	0.0347	0.0066	0.0085	0.0060	0.0053	0.0053	0.0056	0.0051	0.0074	0.0050	0.0049	0.0068	0.0066	0.0013	0.0011	0.0061	0.0303	0.0002	0.0008	0.0374	0.0074	0.0095	0.0041	0.615	0.05388	T	0.379	0.16037	T	0.019	0.17989	B	0.011	0.15521	B	0.001927	0.37643	N	0.274141	0.508344	0.31798	D	1.49	0.37298	L	2.2	0.18570	T	0.33	0.03889	N	0.23	0.25867	-1.0282	0.21038	T	0.019	0.08173	T	10	0.0037255585	0.00069	T	0.004777	0.11941	T	0.023	0.04649	0.338	0.32816	0.15499578495	0.15088	0.5815889036089006	0.58087	0.843175177624	0.68162	0.58682090044	0.51046	T	0.00726	0.06675	T	-0.523963	0.00417	T	-0.514382	0.20867	T	0.00855073918350088	0.00104	T	0.788221	0.42759	T	0.16334656	0.36471	0.07962252	0.17942	0.15677175	0.35361	0.07962252	0.17942	-5.987	0.46171	T	0.11265034767515293	0.09770	0.158	0.34992	B	.	.	2.444421	0.31468	18.75	0.98248521799550337	0.39548	0.91633	0.53936	D	AEFDGBIJ	0.155138	0.28028	N	-0.390955031988069	0.25791	1.402656	-0.199714691538719	0.31548	1.786382	0.999998231419917	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	4.05	0.46415	1.623000	0.36618	7.454000	0.58989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.1504:0.0:0.7001:0.1495	6.257	0.20089	738	0.53389	.	.	.	.	.	.	Likely benign	0	0	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	0.030715	0.015152	0.035326	0.035088	0.050000	0.025862	0.036585	0.018939	0.08333	635.83	33	chr5	14681484	.	G	T	635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.002;DP=237;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.401;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1274	5	0	1	0
chr5	16676138	16676138	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon34:c.C4559T:p.S1520L	.	437	1066	19	0	0	19	0.0088331	.	.	.	699001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0075	0.00379393	0.0083	0.0018	0.0029	0	0.0162	0.0100	0.0101	0.0104	0.0081823	1265	154602	rs61744227	0.0098	0.0098	0.0099	0.0098	0.0105	0.0097	0.0096	0.0102	0.0102	0.0010	0.0026	0.0154	0	0.0146	0.0050	0.0104	0.0091	0.0105	0.0074	0.0074	0.0070	0.0077	0.0114	0.0070	0.0069	0.0092	0.0090	0.0022	0.0011	0.0039	0.0164	0	0.0170	0.0034	0.0098	0.0043	0.0114	0.288	0.15098	T	0.322	0.30631	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.93	0.44065	T	-1.32	0.42384	N	0.232	0.26717	-1.0374	0.18109	T	0.044	0.18989	T	9	0.0017369092	0.00022	T	.	.	.	0.037	0.09474	.	.	0.306695030598	0.30287	0.34434791163501755	0.34348	0.158956117107	0.17935	0.385757118464	0.23070	T	0.029587	0.41255	T	-0.655944	0.00067	T	-0.705599	0.05525	T	0.00464057159125389	0.00050	T	0.914109	0.69400	D	0.07779695	0.17678	0.049733408	0.07660	0.07779695	0.17678	0.049733408	0.07660	-8.657	0.65464	D	.	.	0.057	0.03301	B	.;.;.;.	.;.;.;.	1.630669	0.20822	14.92	0.98931817611146089	0.48769	0.24064	0.22276	N	AEFDBI	0.191428	0.31862	N	-0.728616144975346	0.15220	0.7651713	-0.655040653138761	0.18089	0.9648197	0.999991440263865	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	1.956000	0.40007	3.904000	0.40368	0.676000	0.76740	0.016000	0.19238	0.727000	0.26391	0.990000	0.65344	0.1845:0.1421:0.6734:0.0	6.361	0.20630	757	0.50970	.;.;.;.	.	.	.	.	rs61744227	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.026515	0.08333	1341.83	35	chr5	16676138	.	G	A	1341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.521;DP=278;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.32;SOR=0.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	5	0	1	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	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	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.08333	821.83	37	chr5	16701687	.	A	G	821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=263;ExcessHet=0;FS=0.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.793;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	5	0	1	0
chr5	21752146	21752146	T	A	exonic	CDH12	.	nonsynonymous SNV	CDH12:NM_001364109:exon10:c.A1304T:p.H435L,CDH12:NM_001317227:exon12:c.A1976T:p.H659L,CDH12:NM_001317228:exon12:c.A1856T:p.H619L,CDH12:NM_001364107:exon13:c.A1976T:p.H659L,CDH12:NM_001364108:exon13:c.A1976T:p.H659L,CDH12:NM_001364104:exon14:c.A1976T:p.H659L,CDH12:NM_001364106:exon15:c.A1976T:p.H659L,CDH12:NM_004061:exon15:c.A1976T:p.H659L,CDH12:NM_001364105:exon16:c.A1976T:p.H659L	.	423	1098	1	0	0	1	0.000455166	.	.	.	2340505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.603	0.120992982541	0.0002	.	0.0002	0	8.675e-05	0	0	0.0002	0	0.0009	0.0002005	31	154602	rs143993546	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0008	2.988e-05	0.0001	0.0002	0	0	0.0002	0.0001	0.0002	0.0011	0.0001	0.0001	0.0001	0.0001	0.0012	7.092e-05	5.749e-05	0.0005	0.0004	2.413e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0012	0.144	0.25255	T	0.413	0.14412	T	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-1.0	0.76037	T	-2.84	0.59873	D	0.766	0.76853	-0.0601	0.80991	T	0.500	0.81091	T	10	0.45164293	0.58735	T	0.120993	0.80166	D	0.603	0.84345	.	.	0.887749475733	0.88664	0.8109729007249156	0.81052	0.39660407487	0.40771	0.888002634048	0.95010	D	0.028566	0.20663	T	0.0136242	0.53518	T	0.196353	0.82928	D	0.0866120438186073	0.10811	T	0.910509	0.70110	D	0.37565973	0.59000	0.28814846	0.54830	0.37565973	0.59001	0.28814846	0.54829	-7.001	0.54449	T	.	.	0.317	0.63390	B	.;.;.	.;.;.	4.405954	0.68124	25.2	0.97590327698685986	0.34786	0.95584	0.65306	D	AEFBI	0.761875	0.69946	D	0.299898552324778	0.56145	3.77873	0.361157751802012	0.59182	4.094013	0.999999585343346	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.248000	0.51131	4.256000	0.42782	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	15.196	0.72774	854	0.34840	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1019.83	37	chr5	21752146	.	T	A	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.52;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.91;SOR=0.788	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr5	21802392	21802392	T	A	exonic	CDH12	.	nonsynonymous SNV	CDH12:NM_001364109:exon5:c.A359T:p.Y120F,CDH12:NM_001317227:exon7:c.A1031T:p.Y344F,CDH12:NM_001317228:exon7:c.A911T:p.Y304F,CDH12:NM_001364107:exon8:c.A1031T:p.Y344F,CDH12:NM_001364108:exon8:c.A1031T:p.Y344F,CDH12:NM_001364104:exon9:c.A1031T:p.Y344F,CDH12:NM_001364106:exon10:c.A1031T:p.Y344F,CDH12:NM_004061:exon10:c.A1031T:p.Y344F,CDH12:NM_001364105:exon11:c.A1031T:p.Y344F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0404131964854	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs777806564	7.526e-06	7.525e-06	6.808e-06	8.252e-06	0.0001	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.165	0.31125	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.59	0.40313	L	-0.34	0.68474	T	-3.34	0.66325	D	0.684	0.70966	-0.2241	0.77042	T	0.413	0.76109	T	10	0.90991807	0.90356	D	0.040413	0.59364	D	0.527	0.80007	0.861	0.95829	0.784457406344	0.78246	0.4728102629901273	0.47200	0.337204829591	0.35714	0.733317315578	0.71991	T	0.188818	0.54284	T	-0.093356	0.37521	T	-0.169222	0.57514	T	0.498588085174561	0.32578	T	0.975036	0.91141	D	0.5977706	0.72571	0.30149227	0.56181	0.5977706	0.72572	0.30149227	0.56180	-5.971	0.46036	T	.	.	0.088	0.14431	B	.;.;.	.;.;.	4.533866	0.71201	25.6	0.98239834273259807	0.39467	0.99678	0.98592	D	AEFGI	0.922209	0.89685	D	0.497977753079478	0.66970	5.019841	0.544445282409279	0.71010	5.590439	0.999999967552444	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	7.561000	0.81256	7.785000	0.68758	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	16.096	0.80931	872	0.31118	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	40	chr5	21802392	.	T	A	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.525;DP=231;ExcessHet=0;FS=2.841;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.939;SOR=0.312	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	5	0	1	0
chr5	23526995	23526995	A	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A1907T:p.Y636F,PRDM9:NM_001376900:exon11:c.A1907T:p.Y636F,PRDM9:NM_020227:exon11:c.A1907T:p.Y636F	.	469	1046	6	1	0	8	0.00380952	.	.	.	3547130	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	.	0.0068	0.0061901	.	.	.	.	.	.	.	.	0.0005757	89	154602	rs201651766	0.0026	0.0023	0.0025	0.0027	0.0034	0.0025	0.0025	0.0031	0.0030	0.0010	0.0034	0.0016	0	0.0024	0.0015	0.0027	0.0034	0.0034	0.0032	0.0029	0.0032	0.0032	0.0049	0.0029	0.0028	0.0044	0.0042	0.0007	0	0.0031	0.0010	0	0.0016	0	0.0049	0.0061	0.0049	0.228	0.18434	T	0.325	0.18846	T	0.325	0.33132	B	0.584	0.50293	P	0.007729	0.31228	N	0.000000	0.996287	0.23061	N	-0.065	0.04868	N	2.22	0.18248	T	-1.95	0.45222	N	0.195	0.21449	-1.0175	0.24528	T	0.024	0.10194	T	10	0.005525738	0.00122	T	.	.	.	0.055	0.15663	.	.	0.208816687407	0.20498	0.023193010990690148	0.02271	0.506227991766	0.48837	0.414249628782	0.27045	T	0.133044	0.46349	T	-0.628687	0.00097	T	-0.665454	0.07902	T	0.0598448019351359	0.07144	T	0.170983	0.01619	T	0.05393593	0.10277	0.04023637	0.04303	0.05393593	0.10276	0.04023637	0.04302	-8.807	0.66446	D	.	.	0.273	0.50708	B	.	.	1.540645	0.19760	14.42	0.87116539181548169	0.17000	0.02337	0.06683	N	AEFDGI	0.027823	0.02341	N	-0.692574016437774	0.16232	0.8251818	-0.766972881525685	0.15306	0.8043094	0.00805183161945329	0.11601	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.32	1.06	0.19341	-0.845000	0.04448	0.323000	0.17205	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5072:0.0:0.0:0.4928	5.068	0.13928	984	0.02857	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	1	0	.	.	.	.	.	.	.	.	0.08333	784.83	34	chr5	23526995	.	A	T	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=261;ExcessHet=0;FS=3.106;MLEAC=1;MLEAF=0.083;MQ=36.45;MQRankSum=2.12;QD=10.33;ReadPosRankSum=0.411;SOR=1.151	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	5	0	1	0
chr5	23527360	23527360	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2272A:p.R758S,PRDM9:NM_001376900:exon11:c.C2272A:p.R758S,PRDM9:NM_020227:exon11:c.C2272A:p.R758S	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0157748	7.574e-05	0.0009	0	0	0	0	0	6.089e-05	0.0009573	148	154602	rs112501567	0.0007	0.0021	0.0006	0.0008	0.0035	0.0006	0.0006	0.0029	0.0026	0.0035	0.0014	0.0022	0.0014	0.0004	0.0028	0.0004	0.0013	0.0018	0.0014	0.0020	0.0014	0.0013	0.0026	0.0011	0.0010	0.0010	0.0009	0.0018	0	0.0016	0	0	0.0011	0	0.0014	0	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.15	0.00907	N	1.3	0.35590	T	1.49	0.00747	N	0.044	0.01658	-1.0171	0.24657	T	0.001	0.00438	T	8	0.0039440393	0.00076	T	.	.	.	0.031	0.07369	.	.	0.0611884634855	0.05136	0.03481781596185732	0.03428	0.139674272888	0.15743	0.465482741594	0.34061	T	0.019719	0.15658	T	-0.709207	0.00032	T	-0.765043	0.02935	T	0.00023669731066395	0.00001	T	0.0772923	0.00570	T	0.47630665	0.65676	0.09665705	0.22975	0.47630665	0.65676	0.09665705	0.22975	-0.271	0.00460	T	.	.	0.281	0.51367	B	.	.	0.532115	0.09008	5.790	0.55493317965200339	0.05354	0.00050	0.00389	N	AEFDGBIJ	0.017414	0.00455	N	-1.36982181412534	0.02925	0.1298806	-1.37235076037868	0.03549	0.1657935	0.307357789252236	0.19251	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.65	2.65	0.30588	0.907000	0.28154	-2.751000	0.03399	-0.767000	0.03477	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.534:0.2366:0.0:0.2294	3.486	0.07182	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016437	0.015306	0.013587	0.020492	0.050000	0.025862	0.024540	0.003817	0.08333	1412.83	91	chr5	23527360	.	C	A	1412.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.957;DP=645;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=50.68;MQRankSum=-0.326;QD=11.21;ReadPosRankSum=0.132;SOR=0.719	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	5	0	1	0
chr5	33588756	33588756	T	C	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon16:c.A2453G:p.E818G,ADAMTS12:NM_030955:exon18:c.A2708G:p.E903G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0196457831724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318158644	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.34621	T	0.296	0.22828	T	0.169	0.55692	B	0.266	0.48482	B	0.001584	0.38554	N	0.279834	0.679181	0.33217	D	2.465	0.71551	M	0.64	0.52867	T	-2.92	0.61129	D	0.337	0.45331	-0.9145	0.46285	T	0.161	0.49531	T	10	0.27698946	0.45264	T	0.019646	0.42067	T	0.093	0.26882	0.328	0.31196	0.709166840936	0.70663	0.5533789532818482	0.55263	0.577604299883	0.53677	0.456635504961	0.32850	T	0.180604	0.53199	T	-0.0702015	0.41295	T	-0.338616	0.40501	T	0.981699645519257	0.74058	D	0.928807	0.73814	D	0.15113491	0.34372	0.15977189	0.37245	0.15113491	0.34372	0.15977189	0.37244	-11.175	0.82704	D	.	.	0.217	0.52663	B	.;.	.;.	3.479832	0.48587	22.6	0.99846797462970927	0.92663	0.75812	0.37139	D	AEFDGBCI	0.449570	0.50433	N	0.10065278432193	0.46493	2.888797	0.158170722567904	0.47576	2.985818	0.999999684793613	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.459711	0.06710	0	0.584449	0.35598	0	.	.	5.98	4.8	0.61157	1.660000	0.37013	6.088000	0.53416	0.609000	0.47794	0.975000	0.34726	1.000000	0.68203	0.686000	0.33718	0.1378:0.0:0.0:0.8622	12.087	0.53001	896	0.25515	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1890.83	36	chr5	33588756	.	T	C	1890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.113;DP=293;ExcessHet=0;FS=2.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.185;SOR=0.461	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G,SPEF2:NM_144722:exon5:c.A601G:p.R201G	.	436	1032	52	2	0	56	0.0264151	.	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	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	0.024673	0.010101	0.025815	0.017544	0.000000	0.051724	0.012195	0.060606	0.08333	927.83	36	chr5	35646682	.	A	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.586;DP=237;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.932;SOR=0.84	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1073	5	0	1	0
chr5	35876347	35876347	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1241T:p.T414M	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1425	89	8	0	105	0.035533	.	.	.	138275	not_specified|Immunodeficiency_104|not_provided	MedGen:CN169374|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0039	0.013778	0.0107	0.0012	0.0020	0.0271	0.0086	0.0056	0.0155	0.0359	0.0098252	1519	154602	rs2229232	0.0071	0.0071	0.0061	0.0082	0.0372	0.0070	0.0069	0.0362	0.0357	0.0017	0.0023	0.0135	0.0358	0.0085	0.0239	0.0037	0.0088	0.0372	0.0059	0.0059	0.0052	0.0066	0.0326	0.0055	0.0054	0.0284	0.0268	0.0010	0.0011	0.0043	0.0147	0.0301	0.0068	0.0102	0.0047	0.0100	0.0326	0.015	0.52492	D	0.031	0.53788	D	0.987	0.61912	D	0.548	0.49136	P	0.217605	0.03431	N	1.447760	1	0.08975	N	1.83	0.48079	L	1.78	0.25678	T	-1.11	0.28703	N	0.047	0.01911	-1.0472	0.15188	T	0.027	0.11663	T	10	0.0026548505	0.00041	T	.	.	.	0.111	0.31313	.	.	.	.	0.4007483538174258	0.39989	0.0171820885831	0.01662	0.229907736182	0.01961	T	0.363134	0.72893	T	-0.511019	0.00495	T	-0.481058	0.24334	T	0.0202699972013287	0.00727	T	0.692831	0.30243	T	0.020204129	0.00571	0.035991907	0.02956	0.024279028	0.01243	0.034701396	0.02585	-5.001	0.36851	T	0.3171601064527724	0.41522	0.087	0.10979	B	.	.	0.676186	0.10444	7.166	0.99348098151366837	0.60452	0.04635	0.10302	N	AEFGBCI	0.066404	0.13002	N	-0.644685924130409	0.17615	0.9079335	-0.840010357948379	0.13527	0.7022545	0.999916113977116	0.45857	0.653281	0.48532	0	0.681609	0.65952	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.6	-1.06	0.09491	-0.111000	0.10778	-1.445000	0.05423	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2999:0.3346:0.0:0.3655	3.165	0.06143	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.015152	0.021739	0.029240	0.000000	0.025862	0.021341	0.060606	0.08333	1172.83	36	chr5	35876347	.	C	T	1172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.23;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.624;SOR=0.668	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr5	35876422	35876422	C	G	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1316G:p.T439S	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	721440	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00974582969322	0.0002	0.000199681	0.0004	0.0002	0.0005	0	0	0.0005	0.0011	0.0005	0.0003881	60	154602	rs148931962	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0032	2.987e-05	0.0005	0	0	0	0.0052	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0.0102	0.0004	0.0009	0.0004	0.41	0.10148	T	0.663	0.06448	T	0.024	0.19075	B	0.005	0.11217	B	0.840524	0.09037	N	0.933160	1	0.30258	N	1.095	0.27400	L	1.83	0.24841	T	-0.25	0.11008	N	0.05	0.02179	-0.9711	0.36967	T	0.103	0.37969	T	10	0.025248855	0.00725	T	0.009746	0.25449	T	0.113	0.31778	0.59	0.71874	0.491317756052	0.48765	0.33545629895792106	0.33458	0.0165124899938	0.01591	0.342507779598	0.16813	T	0.145413	0.48253	T	-0.446732	0.01180	T	-0.538927	0.18402	T	0.0183760260577019	0.00555	T	0.437256	0.12012	T	0.08174318	0.18799	0.048332345	0.07155	0.07035484	0.15490	0.052422184	0.08632	-2.977	0.09935	T	0.4053687355797069	0.49654	0.094	0.14568	B	.	.	0.845452	0.12176	8.721	0.89456034914060323	0.18812	0.08904	0.14761	N	AEFGBCI	0.061057	0.11646	N	-0.66506239173422	0.17023	0.8724526	-0.673575151583588	0.17623	0.937902	0.999998903750716	0.74766	0.653281	0.48532	0	0.616935	0.53198	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.46	4.57	0.55860	0.426000	0.21081	1.775000	0.28667	0.599000	0.40250	0.049000	0.21372	0.277000	0.24084	0.082000	0.17360	0.0:0.8264:0.1736:0.0	12.068	0.52899	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	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1091.83	36	chr5	35876422	.	C	G	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.719;DP=266;ExcessHet=0;FS=3.081;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.044;SOR=0.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr5	37226756	37226756	T	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon12:c.A1839C:p.K613N,CPLANE1:NM_023073:exon12:c.A1839C:p.K613N	.	9	1512	1	0	0	1	0.000330579	.	.	.	264270	Joubert_syndrome_17|Orofaciodigital_syndrome_type_6|not_specified|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.480	0.189315097722	.	0.000399361	4.723e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs533310477	6.615e-05	6.499e-05	5.67e-05	7.589e-05	0.0103	5.495e-05	5.093e-05	0.0082	0.0074	9.662e-05	0.0001	0	0	0	0.0103	1.581e-05	0.0001	1.293e-05	7.221e-05	7.217e-05	5.139e-05	9.397e-05	7.351e-05	3.968e-05	3.125e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0136	7.351e-05	0.0009	0	0.007	0.59928	D	0.017	0.60337	D	.	.	.	.	.	.	0.007455	0.31390	U	0.269718	1	0.81001	D	.	.	.	-5.05	0.98611	D	-2.32	0.51478	N	0.167	0.20262	0.931	0.96120	D	0.943	0.98119	D	10	0.09267226	0.16338	T	0.189315	0.86055	D	0.480	0.77077	0.435	0.48664	0.651281849334	0.64838	0.09473945657239558	0.09405	0.202201291181	0.22641	.	.	.	0.038421	0.24832	T	-0.145554	0.29010	T	-0.177555	0.56748	T	0.241197556257248	0.22475	T	0.574643	0.20620	T	0.18983264	0.40542	0.15193936	0.35768	0.18983264	0.40542	0.15193936	0.35768	-3.447	0.15697	T	0.5699935962261324	0.63722	0.203	0.42735	B	.;.	.;.	2.528626	0.32689	19.12	0.99775170740127506	0.86260	0.72603	0.35531	D	AEFGBCI	0.239636	0.36156	N	0.176771883269741	0.50086	3.201991	0.0688169945198818	0.42992	2.610201	0.302255793433614	0.19201	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.26	1.51	0.22094	0.107000	0.15212	-0.071000	0.12298	0.609000	0.47794	0.995000	0.38783	0.880000	0.27694	0.928000	0.46473	0.1335:0.2206:0.0:0.6458	4.427	0.10935	153	0.93993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1405.83	34	chr5	37226756	.	T	G	1405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.745;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	5	0	1	0
chr5	37243028	37243028	A	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon6:c.T662C:p.V221A,CPLANE1:NM_023073:exon6:c.T662C:p.V221A	.	2	1507	13	0	0	13	0.00429468	.	.	.	297483	CPLANE1-related_disorder|not_provided|not_specified|Joubert_syndrome_17	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00442222832767	.	0.000399361	0.0026	0	0	0	0	0	0.0041	0.0071	0.000414	64	154602	rs370118778	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0045	0.0044	3.237e-05	2.996e-05	0	0	0	0.0018	3.632e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	0.0001	0.0005	0.0050	1.0	0.00964	T	0.382	0.15890	T	.	.	.	.	.	.	0.956175	0.07688	U	1.027200	1	0.20581	N	.	.	.	2.02	0.21119	T	-0.78	0.21644	N	0.132	0.18376	-0.9746	0.36213	T	0.042	0.17994	T	10	0.0038867295	0.00074	T	0.004422	0.10812	T	0.017	0.02790	0.373	0.38503	0.0401082797425	0.02173	0.03654449711803922	0.03601	0.14803209789	0.16696	.	.	.	0.012286	0.10825	T	-0.581761	0.00188	T	-0.606517	0.12270	T	0.0156229281897377	0.00358	T	0.511749	0.16382	T	0.049789272	0.08895	0.038772095	0.03821	0.043329377	0.06731	0.03546149	0.02803	-3.784	0.20566	T	0.6817870983535568	0.75827	0.094	0.14660	B	.;.	.;.	1.343888	0.17504	13.20	0.84688375004145366	0.15439	0.05131	0.10939	N	AEBI	0.036251	0.04802	N	-0.791177121667441	0.13539	0.6677006	-0.772964209158973	0.15159	0.7958581	0.00384773311079576	0.10303	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.48	1.63	0.22882	0.131000	0.15696	1.669000	0.27944	0.665000	0.62972	0.001000	0.13787	0.012000	0.20211	0.979000	0.57723	0.5302:0.3048:0.1649:0.0	4.797	0.12646	161	0.93754	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002457	0.000000	0.000000	0.004425	0.000000	0.000000	0.011905	0.000000	0.08333	662.83	40	chr5	37243028	.	A	G	662.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=227;ExcessHet=0;FS=0.995;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.041;SOR=0.56	GT:AD:DP:GQ:PL	0/1:27,29:56:99:673,0,597	5	0	1	0
chr5	37291973	37291973	C	A	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon34:c.G3911T:p.S1304I,NUP155:NM_004298:exon35:c.G3926T:p.S1309I,NUP155:NM_153485:exon35:c.G4103T:p.S1368I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.430	0.0280342656574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.055	0.46862	T	0.695	0.46346	P	0.11	0.38432	B	0.000001	0.62929	D	0.128731	0.99966	0.48141	D	1.78	0.46185	L	-1.14	0.77843	T	-2.23	0.56466	N	0.391	0.60918	-0.5417	0.67099	T	0.281	0.65239	T	10	0.29541677	0.47110	T	0.028034	0.50772	D	0.430	0.73662	0.597	0.72739	0.460629033866	0.45690	0.45845532289454033	0.45763	0.277069587991	0.30180	0.629613518715	0.57091	T	0.261188	0.63265	T	0.0483667	0.58132	T	-0.168301	0.57599	T	0.880813777446747	0.53085	D	0.891911	0.62748	D	0.20924553	0.43186	0.13843252	0.33060	0.20924553	0.43186	0.13843252	0.33059	-5.925	0.45647	T	.	.	0.294	0.52881	B	.;.;.	.;.;.	4.060015	0.60248	24.2	0.98564908621494551	0.43025	0.96233	0.68148	D	AEFGBI	0.672605	0.63895	D	0.251542859743216	0.53715	3.539227	0.343880334637421	0.58141	3.982876	0.999993929661586	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.232000	0.58445	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9212:0.0:0.0788	11.998	0.52508	181	0.92953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2151.06	34	chr5	37291973	.	C	A	2151.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.147;DP=262;ExcessHet=0.4139;FS=4.532;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/1:22,32:54:99:815,0,483	4	0	2	0
chr5	38370430	38370430	G	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_001205301:exon6:c.G680A:p.R227H,EGFLAM:NM_152403:exon6:c.G680A:p.R227H	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	.	0.0111821	0.0062	0.0002	8.699e-05	0.0001	0	6.025e-05	0.0033	0.0450	0.0054268	839	154602	rs199795131	0.0026	0.0026	0.0015	0.0038	0.0413	0.0025	0.0025	0.0402	0.0398	0.0001	2.236e-05	0	7.558e-05	0	0.0024	3.777e-05	0.0030	0.0413	0.0015	0.0015	0.0008	0.0023	0.0471	0.0014	0.0013	0.0421	0.0401	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0.0471	0.07	0.35349	T	0.156	0.31936	T	0.988	0.62325	D	0.768	0.56752	P	0.019805	0.27175	N	0.428011	0.791324	0.34390	D	1.445	0.36358	L	0.58	0.54149	T	-0.97	0.27259	N	0.07	0.05287	-0.8731	0.50295	T	0.189	0.53975	T	10	0.0070835054	0.00161	T	.	.	.	0.170	0.43303	.	.	0.536100336011	0.53261	0.38879199742052	0.38794	0.119961035255	0.13508	0.286980509758	0.08485	T	0.080182	0.36304	T	-0.565016	0.00237	T	-0.552248	0.17110	T	0.0517918391206317	0.05812	T	0.812919	0.46506	T	0.06071386	0.12491	0.04724719	0.06766	0.06071386	0.12490	0.04724719	0.06765	-6.556	0.50716	T	.	.	0.106	0.31406	B	.;.	.;.	2.811907	0.37022	20.4	0.99754050353713486	0.84537	0.76663	0.37617	D	AEFGBI	0.311457	0.41718	N	0.000208041462100544	0.41865	2.511844	-0.0171782424336513	0.38939	2.301382	0.999592540791192	0.40745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.82	1.85	0.24418	1.253000	0.32488	4.665000	0.44254	-0.159000	0.11634	0.995000	0.38783	1.000000	0.68203	0.952000	0.50033	0.0:0.4351:0.2538:0.3111	9.902	0.40520	909	0.22467	Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.015152	0.08333	747.83	33	chr5	38370430	.	G	A	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.372;DP=224;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.697;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,22:57:99:0|1:38370430_G_A:758,0,1362:38370430	5	0	1	0
chr5	39308321	39308321	A	T	exonic	C9	.	stopgain	C9:NM_001737:exon8:c.T1149A:p.Y383X	C9 deficiency	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.128e-05	0	0	0	0	0	0	0.0003	3.88e-05	6	154602	rs552350601	8.277e-06	8.211e-06	5.497e-06	1.108e-05	0.0002	4.41e-06	3.49e-06	5.411e-05	4.053e-05	0	0	0	0	0	0.0002	0	3.337e-05	0.0001	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.509416	0.11861	N	0.796012	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.745	0.74462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172807	0.71381	D	0.284749	0.87377	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.941552	0.94132	33	0.9899920751374075	0.50106	0.66759	0.33190	D	AEFI	0.028625	0.02556	N	0.268390900741182	0.54553	3.620675	0.000221777772007825	0.39728	2.359919	0.993126789615628	0.33094	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	4.3	0.50540	3.407000	0.52394	1.486000	0.26855	-0.093000	0.16093	0.562000	0.27441	0.000000	0.08366	0.094000	0.17991	0.9137:0.0:0.0863:0.0	8.843	0.34312	739	0.53257	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	923.83	34	chr5	39308321	.	A	T	923.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=252;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.457;SOR=0.506	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1195	5	0	1	0
chr5	40949964	40949964	T	A	exonic	C7	.	nonsynonymous SNV	C7:NM_000587:exon9:c.T1043A:p.F348Y	C7 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0109786209217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282769787	4.14e-06	4.104e-06	1.37e-06	6.951e-06	0.0005	1.49e-06	9.8e-07	0.0001	7.573e-05	0	0	0	0	0	0.0005	9.046e-07	3.334e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.973769	0.08141	N	0.985432	1	0.08975	N	-0.55	0.02420	N	-1.95	0.85003	D	0.1	0.05810	N	0.138	0.13626	-0.8516	0.51857	T	0.195	0.54942	T	10	0.05370596	0.05604	T	0.010979	0.28125	T	0.187	0.46274	0.529	0.63560	0.220303561663	0.21668	0.6239907862965979	0.62332	0.0174654816971	0.01699	0.343167871237	0.16911	T	0.019309	0.15408	T	-0.191698	0.22010	T	-0.513137	0.20993	T	0.0675378803256668	0.08302	T	0.176682	0.01716	T	0.1939793	0.41130	0.09135909	0.21476	0.1939793	0.41130	0.09135909	0.21475	-3.629	0.18277	T	0.04502353612045519	0.00561	0.080	0.07650	B	.	.	0.023305	0.04446	1.171	0.27772221536379987	0.01395	0.01253	0.04406	N	AEFGBI	0.167017	0.29365	N	-1.48412245668462	0.01962	0.08614254	-1.43568506072222	0.02902	0.1343801	0.00153982804665569	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.88	-0.297	0.12185	-0.368000	0.07597	-4.554000	0.02098	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1633:0.4034:0.1588:0.2746	0.924	0.01238	514	0.74853	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	961.83	47	chr5	40949964	.	T	A	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.884;DP=345;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.8;SOR=0.849	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr5	41018729	41018729	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon26:c.G2635A:p.D879N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00473605389177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866059852	6.842e-07	6.84e-07	0	1.375e-06	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.09101	T	0.086	0.42086	T	0.047	0.21998	B	0.027	0.21085	B	0.044500	0.23633	N	0.406160	0.880347	0.28060	N	1.735	0.44892	L	3.58	0.04594	T	0.83	0.01787	N	0.332	0.38027	-1.0315	0.19970	T	0.014	0.05369	T	10	0.11627835	0.21931	T	0.004736	0.11784	T	0.062	0.17934	0.3	0.26683	0.0138822411134	0.00435	0.23352709546050793	0.23267	0.0215625781638	0.02143	0.424171298742	0.28411	T	0.012406	0.10910	T	-0.440778	0.01280	T	-0.788058	0.02218	T	0.200092896819115	0.20421	T	0.679032	0.28770	T	0.057842333	0.11563	0.042497877	0.05076	0.057842333	0.11562	0.042497877	0.05076	-3.18	0.12238	T	.	.	0.075	0.05756	B	.;.	.;.	1.940528	0.24650	16.47	0.93316983407349552	0.23036	0.47991	0.28107	N	AEFI	0.052238	0.09307	N	-0.223084903933514	0.32188	1.812611	-0.0774773868188066	0.36324	2.112405	0.113339460276674	0.16706	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.96	3.86	0.43689	0.652000	0.24573	0.792000	0.21577	0.599000	0.40250	0.986000	0.36153	0.996000	0.32793	0.737000	0.35335	0.0:0.809:0.0:0.191	9.098	0.35815	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	636.83	36	chr5	41018729	.	C	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.23;DP=244;ExcessHet=0;FS=3.741;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.329;SOR=1.238	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	5	0	1	0
chr5	41054790	41054790	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon11:c.G1084A:p.V362I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00977437691932	.	0.000399361	0.0003	0	0	0.0013	0	1.5e-05	0	0.0015	0.0002652	41	154602	rs184226751	0.0001	0.0001	6.136e-05	0.0002	0.0014	9.891e-05	9.299e-05	0.0012	0.0011	2.996e-05	2.25e-05	0	0.0006	0	0	1.171e-05	0.0002	0.0014	7.882e-05	7.876e-05	6.427e-05	9.403e-05	0.0014	4.495e-05	3.511e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0010	0.139	0.25768	T	0.306	0.19972	T	0.007	0.14184	B	0.004	0.10090	B	0.754656	0.09672	N	0.876356	1	0.08975	N	0.69	0.16971	N	-0.26	0.67187	T	-0.67	0.19297	N	0.058	0.02964	-0.9701	0.37179	T	0.184	0.53315	T	10	0.010486782	0.00233	T	0.009774	0.25495	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.047219059398134734	0.04664	0.0195201533521	0.01909	0.330864131451	0.15065	T	0.002759	0.02156	T	-0.55713	0.00264	T	-0.592069	0.13488	T	0.0038389496769982	0.00041	T	0.572043	0.20399	T	0.03226952	0.03221	0.03474267	0.02596	0.03226952	0.03221	0.03474267	0.02596	-5.074	0.37632	T	.	.	0.079	0.07224	B	.	.	-0.593939	0.01588	0.107	0.7072464905556598	0.09389	0.01144	0.04144	N	AEFI	0.026830	0.02083	N	-1.15655490672849	0.05673	0.2592245	-1.19286333493542	0.06029	0.2889545	3.98452781165754E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	-0.848	0.10184	-0.857000	0.04394	-3.424000	0.02797	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.3807:0.0:0.6193	9.251	0.36714	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	33	chr5	41054790	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.638;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.261;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	5	0	1	0
chr5	41195931	41195931	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon5:c.C448T:p.R150C,C6:NM_001115131:exon5:c.C448T:p.R150C	C6 deficiency;Combined C6/C7 deficiency (3)	.	.	.	.	.	.	.	.	.	.	1942060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.926	0.0942881544234	.	.	8.257e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs751612775	2.19e-05	2.189e-05	2.179e-05	2.201e-05	8.963e-05	1.585e-05	1.356e-05	2.375e-05	1.258e-05	8.963e-05	4.475e-05	0	0	0	0	2.069e-05	3.312e-05	2.319e-05	1.973e-05	1.97e-05	0	4.04e-05	6.558e-05	5.25e-06	2.46e-06	.	.	2.416e-05	0	6.558e-05	0	0	0	0	1.47e-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	0.047737	1	0.81001	D	2.325	0.66631	M	-3.92	0.96078	D	-5.94	0.89093	D	0.861	0.85766	1.097	0.99542	D	0.955	0.98531	D	10	0.95445716	0.94799	D	0.094288	0.76225	D	0.926	0.98192	.	.	0.973791122316	0.97351	0.8277734939149792	0.82735	0.292977666792	0.31721	0.494802981615	0.38105	T	0.773646	0.93962	D	0.365842	0.87692	D	0.384584	0.91592	D	0.998411297798157	0.94084	D	0.971503	0.89686	D	0.7736549	0.82267	0.56748873	0.74962	0.7736549	0.82269	0.56748873	0.74963	-11.824	0.83983	D	.	.	0.509	0.65924	A	.;.	.;.	5.230833	0.87800	29.4	0.99942916824614514	0.99848	0.96142	0.67725	D	AEFI	0.957165	0.97618	D	1.00465671893171	0.95886	14.06861	0.920937720147574	0.96422	14.67737	0.999625671172311	0.41093	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	6.001000	0.70352	5.184000	0.47874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.494	0.90806	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2010.06	36	chr5	41195931	.	G	A	2010.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=287;ExcessHet=0.4139;FS=4.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.392;SOR=0.415	GT:AD:DP:GQ:PL	0/1:38,37:75:99:926,0,1060	4	0	2	0
chr5	41203221	41203221	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon2:c.C10T:p.R4C,C6:NM_001115131:exon2:c.C10T:p.R4C	C6 deficiency;Combined C6/C7 deficiency (3)	1	1483	38	0	0	38	0.0126498	.	.	.	1155110	not_provided|C6-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	0.0195269370573	0.0007	0.00139776	0.0016	0.0016	0.0007	0	0	0.0010	0.0022	0.0059	0.0013842	214	154602	rs150931891	0.0009	0.0009	0.0007	0.0011	0.0073	0.0009	0.0009	0.0055	0.0049	0.0009	0.0006	0.0114	7.558e-05	0	0.0073	0.0003	0.0019	0.0053	0.0010	0.0010	0.0010	0.0010	0.0048	0.0009	0.0008	0.0033	0.0028	0.0011	0	0.0007	0.0107	0	0	0.0068	0.0004	0.0019	0.0048	0.141	0.25979	T	0.197	0.27855	T	0.008	0.14655	B	0.002	0.06944	B	0.773484	0.06611	N	1.101020	1	0.08975	N	0.345	0.11182	N	0.1	0.61326	T	-0.69	0.19720	N	0.058	0.03069	-0.9946	0.31405	T	0.107	0.38857	T	10	0.005827725	0.00130	T	0.019527	0.41916	T	0.039	0.10176	.	.	0.238096912614	0.23440	0.39305012521588506	0.39220	0.0422329491616	0.04548	0.214111804962	0.00998	T	0.044744	0.26909	T	-0.470742	0.00841	T	-0.447046	0.28023	T	0.00181561596595152	0.00018	T	0.526147	0.17328	T	0.053375762	0.10091	0.03114345	0.01664	0.05086976	0.09257	0.03748249	0.03410	-4.309	0.28302	T	.	.	0.114	0.42170	B	.;.;.;.	.;.;.;.	0.994673	0.13725	10.27	0.38455439153041832	0.02594	0.04399	0.09983	N	AEFGBI	0.264971	0.38220	N	-1.18465933949792	0.05232	0.2380134	-1.24350832981647	0.05228	0.2485955	0.0102753656043911	0.11997	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	-3.86	0.03951	0.473000	0.21843	0.821000	0.21853	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.5153:0.1042:0.2219:0.1585	2.717	0.04869	486	0.77016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.005051	0.005435	0.017544	0.000000	0.008621	0.000000	0.011364	0.08333	1062.83	34	chr5	41203221	.	G	A	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.863;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	5	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	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	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.08333	774.83	65	chr5	42711274	.	G	A	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.053;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.466;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	5	0	1	0
chr5	42808319	42808319	C	A	exonic	SELENOP	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.674e-07	3.42e-06	0	1.552e-06	9.662e-07	0	0	.	.	0	0	0	0	0	0	9.662e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.63918	D	.	.	.	.	.	.	0.008705	0.30705	U	0.145102	0.997898	0.44295	D	2.255	0.64187	M	2.15	0.51228	T	-2.08	0.60029	N	0.336	0.37717	-0.5404	0.67148	T	0.267	0.63844	T	8	0.69742894	0.72232	D	.	.	.	0.248	0.55615	0.84	0.94602	0.521917627825	0.51837	.	.	0.376880899856	0.39126	0.73501265049	0.72239	T	0.42424	0.77474	T	-0.0388432	0.46122	T	-0.293572	0.45399	T	0.976471185684204	0.71396	D	0.688631	0.29780	T	0.5600027	0.70510	0.49249065	0.70643	0.5600027	0.70512	0.49249065	0.70644	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.786642	0.77637	26.7	0.9907507968977789	0.51810	0.94049	0.59959	D	AEFDGBHCI	.	.	.	0.425111135305392	0.62807	4.502823	0.473323609690473	0.66227	4.924803	0.999999999999999	0.74766	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	3.756000	0.54917	7.605000	0.61698	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	18.571	0.91088	445	0.79730	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	69.49	63	chr5	42808319	.	C	A	69.49	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.598;DP=231;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.598;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,31:.	1	0	1	4
chr5	42808325	42808325	G	C	exonic	SELENOP	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.025	0.56192	D	.	.	.	.	.	.	0.021720	0.26779	U	0.175689	0.740556	0.33817	D	2.215	0.62545	M	2.19	0.51474	T	-1.5	0.39119	N	0.308	0.34767	-0.4169	0.71491	T	0.225	0.58919	T	8	0.35128468	0.51982	T	.	.	.	0.148	0.39182	0.637	0.77361	0.382087116544	0.37822	.	.	0.274342641253	0.29928	0.550754189491	0.45964	T	0.146814	0.48460	T	-0.0411036	0.45786	T	-0.296819	0.45059	T	0.964690029621124	0.67033	D	0.728327	0.34315	T	0.1908938	0.40694	0.19818673	0.43639	0.1908938	0.40694	0.19818673	0.43638	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.427682	0.68635	25.3	0.99778525753233382	0.86519	0.93884	0.59470	D	AEFDGBHCI	.	.	.	0.440220700409987	0.63651	4.602932	0.493578302580959	0.67562	5.100875	0.999999999998734	0.74766	0.743674	0.98306	0	0.588066	0.40923	0	0.630245	0.45026	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	3.908000	0.56068	7.428000	0.58769	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0778:0.0:0.9222:0.0	13.303	0.59770	445	0.79730	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	58.73	60	chr5	42808325	.	G	C	58.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.842;DP=125;ExcessHet=0;FS=9.901;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.83;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,82:.	5	0	1	0
chr5	43174892	43174892	A	G	exonic	ZNF131	.	nonsynonymous SNV	ZNF131:NM_001330705:exon6:c.A794G:p.H265R,ZNF131:NM_001330710:exon6:c.A794G:p.H265R,ZNF131:NM_001297548:exon7:c.A1631G:p.H544R,ZNF131:NM_001330707:exon7:c.A1631G:p.H544R,ZNF131:NM_001330708:exon7:c.A1631G:p.H544R,ZNF131:NM_001330709:exon7:c.A794G:p.H265R,ZNF131:NM_001330712:exon7:c.A1631G:p.H544R,ZNF131:NM_001330714:exon7:c.A1631G:p.H544R,ZNF131:NM_001330704:exon8:c.A794G:p.H265R,ZNF131:NM_001330706:exon8:c.A1529G:p.H510R,ZNF131:NM_001330711:exon8:c.A1529G:p.H510R,ZNF131:NM_001330713:exon8:c.A1529G:p.H510R,ZNF131:NM_001330715:exon8:c.A1529G:p.H510R,ZNF131:NM_001330716:exon8:c.A1442G:p.H481R,ZNF131:NM_001330717:exon8:c.A1292G:p.H431R,ZNF131:NM_003432:exon8:c.A1529G:p.H510R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0024	0.000798722	0.0035	0.0006	0	0	0.0185	0.0040	0.0067	0.0012	0.003467	536	154602	rs192740954	0.0043	0.0043	0.0044	0.0042	0.0046	0.0042	0.0042	0.0045	0.0044	0.0003	0.0003	0.0001	0	0.0176	0.0003	0.0046	0.0028	0.0008	0.0034	0.0034	0.0029	0.0038	0.0040	0.0031	0.0030	0.0036	0.0034	0.0008	0	0.0005	0	0	0.0184	0	0.0040	0.0033	0	0.015	0.52492	D	0.008	0.67890	D	0.596	0.39217	P	0.328	0.42011	B	0.000002	0.62929	D	0.057830	0.986287	0.81001	D	1.04	0.26193	L	-0.8	0.73845	T	-0.56	0.27669	N	0.187	0.20395	-0.5487	0.66836	T	0.229	0.59447	T	10	0.008504897	0.00193	T	.	.	.	0.294	0.61388	.	.	0.668288140291	0.66548	0.34984333933484196	0.34898	0.52376291053	0.50081	0.715525150299	0.69395	T	0.027493	0.20123	T	-0.30669	0.08043	T	-0.211811	0.53522	T	0.0168935101104606	0.00441	T	0.783822	0.42110	T	0.12560485	0.29439	0.20228784	0.44250	0.12560485	0.29439	0.20228784	0.44249	-4.123	0.25892	T	.	.	0.108	0.36335	B	.;.;.;.	.;.;.;.	3.542467	0.49755	22.8	0.99631863735025494	0.76081	0.99126	0.91608	D	AEFGBI	0.665555	0.63433	D	0.20869411029715	0.51618	3.341802	0.343715211933586	0.58131	3.981824	0.999999970549395	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	4.932000	0.63178	9.190000	0.79125	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.751	0.77753	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	.	.	.	.	.	.	.	.	0.08333	991.83	42	chr5	43174892	.	A	G	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.838;DP=279;ExcessHet=0;FS=1.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.363;SOR=0.878	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1277	5	0	1	0
chr5	43700219	43700219	A	G	exonic	NNT	.	nonsynonymous SNV	NNT:NM_001331026:exon19:c.A2584G:p.I862V,NNT:NM_012343:exon20:c.A2977G:p.I993V,NNT:NM_182977:exon20:c.A2977G:p.I993V	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive	9	1462	50	1	0	52	0.0174731	.	.	.	691869	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.691	.	0.0043	0.0131789	0.0092	0.0031	0.0053	0.0246	0.0107	0.0064	0.0187	0.0176	0.0086998	1345	154602	rs78818665	0.0067	0.0067	0.0061	0.0072	0.0211	0.0065	0.0065	0.0199	0.0194	0.0034	0.0047	0.0193	0.0211	0.0113	0.0149	0.0046	0.0088	0.0201	0.0071	0.0071	0.0063	0.0079	0.0260	0.0068	0.0066	0.0225	0.0211	0.0031	0.0296	0.0062	0.0240	0.0260	0.0134	0.0102	0.0051	0.0099	0.0211	0.03	0.45393	D	0.05	0.49120	T	0.804	0.45171	P	0.688	0.53700	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.64	0.77224	M	-3.03	0.92307	D	-0.93	0.25551	N	0.395	0.45047	0.465	0.90045	D	0.682	0.89011	D	10	0.0123851	0.00266	T	.	.	.	0.691	0.88773	.	.	0.792272893702	0.79034	0.6103406890579464	0.60966	0.826633399761	0.67434	0.774488687515	0.78097	T	0.560351	0.85272	D	-0.119967	0.33130	T	0.077211	0.75392	D	0.0275404039287166	0.01622	T	0.992176	0.97522	D	0.41718677	0.61904	0.34197587	0.59930	0.4848643	0.66195	0.34197587	0.59929	-8.935	0.67277	D	.	.	0.156	0.34602	B	.;.;.	.;.;.	3.783900	0.54419	23.5	0.99785942847366804	0.87219	0.98056	0.79226	D	AEFGBI	0.868294	0.78837	D	0.619765950109536	0.74426	6.130708	0.654996669094691	0.78981	6.987416	0.999999998687651	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.001000	0.76051	11.275000	0.91537	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.059	0.80632	334	0.86273	NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.015152	0.014946	0.008772	0.000000	0.000000	0.024390	0.022727	0.1667	1701.06	33	chr5	43700219	.	A	G	1701.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.519;DP=294;ExcessHet=0.4139;FS=0.612;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.132;SOR=0.609	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1140,0,934	4	0	2	0
chr5	50428224	50428224	G	A	exonic	EMB	.	nonsynonymous SNV	EMB:NM_198449:exon2:c.C116T:p.S39L	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0035	0.00159744	0.0038	0.0009	0.0030	0	0.0147	0.0045	0.0011	0.0008	0.0038486	595	154602	rs147510643	0.0045	0.0046	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0009	0.0027	0.0006	0	0.0131	0.0016	0.0049	0.0033	0.0009	0.0045	0.0045	0.0038	0.0053	0.0055	0.0042	0.0041	0.0050	0.0048	0.0013	0	0.0029	0	0	0.0186	0	0.0055	0.0052	0.0008	0.163	0.23450	T	0.026	0.55759	D	0.052	0.22494	B	0.003	0.08700	B	0.786531	0.09430	N	0.882556	1	0.24881	N	0.345	0.11182	N	0.76	0.57100	T	-0.61	0.18042	N	0.266	0.32591	-1.0417	0.16800	T	0.074	0.29992	T	9	0.0028268099	0.00045	T	.	.	.	0.069	0.20116	.	.	0.332386209738	0.32853	0.5027389072733729	0.50195	0.281622849585	0.30635	0.441197484732	0.30740	T	0.050916	0.28731	T	-0.55164	0.00285	T	-0.559055	0.16465	T	0.0139289766706949	0.00266	T	0.50265	0.15781	T	0.03727929	0.04748	0.06745644	0.13957	0.03727929	0.04748	0.06745644	0.13956	-3.493	0.16334	T	.	.	0.090	0.18828	B	.;.	.;.	1.364660	0.17740	13.34	0.88639469207132471	0.18136	0.10194	0.15768	N	AEFDBI	0.086520	0.17542	N	-1.05553689277862	0.07479	0.3475867	-1.01151927232117	0.09531	0.4747319	0.99998990671297	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.75	3.87	0.43823	1.828000	0.38750	2.209000	0.31352	-0.104000	0.15758	0.073000	0.22155	0.503000	0.25215	0.933000	0.47100	0.0902:0.0:0.9098:0.0	12.105	0.53108	786	0.46839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	1480.04	35	chr5	50428224	.	G	A	1480.04	.	AC=2;AF=0.167;AN=12;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.49;SOR=1.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1222	5	1	0	0
chr5	52893732	52893732	A	C	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon9:c.A982C:p.K328Q	.	438	1053	29	2	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	0.0014	0.00159744	0.0033	0.0002	0.0007	0.0002	0	0.0022	0.0033	0.0147	0.002859	442	154602	rs150009527	0.0020	0.0020	0.0015	0.0025	0.0149	0.0019	0.0019	0.0142	0.0139	0.0001	0.0004	0.0292	2.524e-05	0	0.0066	0.0005	0.0035	0.0149	0.0015	0.0015	0.0013	0.0017	0.0114	0.0013	0.0013	0.0090	0.0081	0.0003	0	0.0005	0.0291	0.0004	0	0	0.0006	0.0028	0.0114	0.086	0.32610	T	0.213	0.26467	T	0.116	0.26475	B	0.167	0.35118	B	0.000071	0.52346	D	0.168708	0.997134	0.43655	D	0.845	0.21182	L	-1.72	0.83241	D	-2.82	0.59545	D	0.186	0.20262	-0.4076	0.71787	T	0.403	0.75388	T	10	0.008489013	0.00192	T	.	.	.	0.277	0.59375	.	.	0.814982974235	0.81323	0.7904183510822229	0.78993	0.181561313923	0.20410	0.363239347935	0.19856	T	0.493714	0.81715	T	-0.419428	0.01725	T	-0.362282	0.37787	T	0.0276256007752138	0.01633	T	0.889211	0.62120	D	0.71762663	0.79030	0.43571326	0.67048	0.71762663	0.79031	0.43571326	0.67048	-9.296	0.69582	D	.	.	0.121	0.25034	B	.	.	3.379304	0.46730	22.3	0.98850089377460615	0.47271	0.88584	0.48580	D	AEBI	0.654059	0.62687	D	-0.108549905968052	0.37020	2.147875	0.052388413383367	0.42188	2.547394	0.999813034824553	0.43459	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.7	4.53	0.55009	2.859000	0.48063	6.987000	0.57147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.866:0.134:0.0:0.0	13.075	0.58496	715	0.56137	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.014620	0.000000	0.008621	0.009146	0.007576	0.08333	1158.83	36	chr5	52893732	.	A	C	1158.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.728;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=1.32;SOR=0.788	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1169,0,760	5	0	1	0
chr5	54979391	54979393	CTT	-	exonic	ESM1	.	nonframeshift deletion	ESM1:NM_001135604:exon2:c.344_346del:p.E115del,ESM1:NM_007036:exon3:c.494_496del:p.E165del	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	9.064e-05	9.61e-05	0	0.0001	0	4.497e-05	0	0.0004	3.84e-05	1	26028	rs576725927	8.963e-05	9.166e-05	7.625e-05	0.0001	0.0007	7.69e-05	7.235e-05	0.0006	0.0005	2.989e-05	0	0	0	0	0.0002	5.217e-05	0.0001	0.0007	5.913e-05	5.906e-05	3.857e-05	8.061e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.408e-05	0	0.0002	0	0	0	0	2.941e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	529.79	36	chr5	54979390	.	ACTT	A	529.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0.312;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1282	5	0	1	0
chr5	55124931	55124931	A	G	exonic	CDC20B	.	nonsynonymous SNV	CDC20B:NM_001145734:exon9:c.T1087C:p.W363R,CDC20B:NM_001170402:exon9:c.T1087C:p.W363R,CDC20B:NM_152623:exon9:c.T1087C:p.W363R	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.0950543439666	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs759894199	2.531e-05	2.531e-05	1.906e-05	3.163e-05	0.0005	1.868e-05	1.631e-05	0.0001	0.0001	0	0	0	0	0	0.0005	1.079e-05	8.279e-05	0.0002	6.565e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.001254	0.39669	N	0.000000	0.999847	0.81001	D	3.45	0.92227	M	-0.23	0.66652	T	-13.65	0.99959	D	0.912	0.91391	0.371	0.88663	D	0.573	0.84563	D	10	0.94262266	0.93587	D	0.095054	0.76362	D	0.682	0.88348	0.792	0.91365	0.882004212119	0.88085	0.790413600075333	0.78993	1.06838228443	0.76714	0.768895030022	0.77259	T	0.178844	0.52963	T	0.22166	0.75932	D	0.317291	0.88977	D	0.998541116714478	0.94448	D	0.79622	0.51177	T	0.93190217	0.94427	0.8189046	0.89468	0.93190217	0.94428	0.8189046	0.89469	-12.985	0.89302	D	.	.	0.986	0.95110	P	.;.;.	.;.;.	4.974868	0.82356	27.8	0.99658043998604184	0.77757	0.97602	0.75831	D	AEFDBI	0.831913	0.75038	D	0.861231354659377	0.89738	10.09677	0.764511598445775	0.87236	9.153369	0.999211844000006	0.38775	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	7.499000	0.80410	9.027000	0.78584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.932	0.63508	487	0.76954	.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1424.83	35	chr5	55124931	.	A	G	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.185;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	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	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1634.83	102	chr5	56176157	.	A	T	1634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=1.46;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	5	0	1	0
chr5	57482088	57482088	C	T	exonic	ACTBL2	.	nonsynonymous SNV	ACTBL2:NM_001017992:exon1:c.G620A:p.R207Q	.	44	1461	16	1	0	18	0.00612245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.106796901498	0.0019	0.00199681	0.0018	0.0007	0.0013	0	0.0015	0.0023	0.0033	0.0021	0.001824	282	154602	rs146468598	0.0032	0.0032	0.0031	0.0032	0.0075	0.0031	0.0031	0.0057	0.0051	0.0009	0.0010	0.0045	2.519e-05	0.0018	0.0075	0.0035	0.0040	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0004	0.0011	0.0010	0.0055	0	0.0010	0	0.0031	0.0019	0.0025	.	.	.	0.084	0.41239	T	0.461	0.36363	P	0.182	0.35926	B	0.000010	0.62929	D	0.000000	0.999197	0.46300	D	2.57	0.75187	M	-3.44	0.94428	D	-2.61	0.56144	D	0.774	0.77132	0.773	0.94084	D	0.806	0.93436	D	10	0.055581927	0.06097	T	0.106797	0.78257	D	0.836	0.94840	.	.	0.747451845535	0.74517	0.28090319973566225	0.28003	0.220639000335	0.24609	0.737995624542	0.72677	T	0.553979	0.84948	D	0.0171969	0.54004	T	0.248875	0.85569	D	0.0449145518903926	0.04586	T	0.959604	0.84807	D	0.7950199	0.83589	0.6102615	0.77329	0.7950199	0.83591	0.6102615	0.77330	-10.825	0.78689	D	.	.	0.224	0.45556	B	.	.	5.162625	0.86510	28.9	0.99195892694610466	0.55112	0.97433	0.74719	D	AEFGBI	.	.	.	0.543825191585582	0.69708	5.395345	0.577221676404053	0.73311	5.94959	0.999999999998623	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.91	4.91	0.63897	7.899000	0.85994	2.719000	0.34297	0.599000	0.40250	1.000000	0.71638	0.034000	0.21380	0.967000	0.53440	0.0:1.0:0.0:0.0	15.631	0.76657	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1323.83	35	chr5	57482088	.	C	T	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=296;ExcessHet=0;FS=15.497;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.504;SOR=1.945	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	5	0	1	0
chr5	60904854	60904854	A	C	exonic	ERCC8	.	nonsynonymous SNV	ERCC8:NM_000082:exon5:c.T419G:p.F140C,ERCC8:NM_001007234:exon5:c.T419G:p.F140C,ERCC8:NM_001007233:exon6:c.T245G:p.F82C	Cockayne syndrome, type A, Autosomal recessive;UV-sensitive syndrome 2, Autosomal recessive	10	1508	4	0	0	4	0.0013245	.	.	.	894591	Cockayne_syndrome_type_1	MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400,Orphanet:191,Orphanet:90321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.763	0.0985938140006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs373783755	2.329e-05	2.259e-05	2.397e-05	2.261e-05	0.0005	1.661e-05	1.461e-05	0.0001	7.649e-05	0	0	0	0	0	0.0005	2.147e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.041	0.50514	D	0.999	0.77913	D	0.883	0.62698	P	0.000001	0.84330	D	0.097044	1	0.81001	D	2.555	0.74557	M	-1.47	0.81067	T	-3.05	0.71276	D	0.864	0.86085	0.234	0.86482	D	0.619	0.86580	D	10	0.82368124	0.81558	D	0.098594	0.76968	D	0.763	0.91962	0.598	0.72862	0.941272155106	0.94066	0.5620659559288889	0.56133	0.383352055737	0.39662	0.643458843231	0.59056	T	0.376679	0.74002	T	0.311187	0.83833	D	0.316879	0.88960	D	0.918565571308136	0.57688	D	0.918208	0.71352	D	0.56503034	0.70787	0.30576244	0.56602	0.56503034	0.70788	0.30576244	0.56601	-9.842	0.72960	D	.	.	0.721	0.75630	P	.;.	.;.	5.128837	0.85820	28.7	0.99192666458894341	0.55024	0.99650	0.98341	D	AEI	0.898767	0.84241	D	0.752756090809216	0.83083	7.925642	0.757429600903741	0.86709	8.977548	0.999832674669067	0.43792	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	7.725000	0.83768	11.030000	0.85052	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.743	0.69089	838	0.37812	WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	251.83	20	chr5	60904854	.	A	C	251.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.788;DP=164;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.09;SOR=0.56	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr5	61332327	61332329	GGC	-	exonic	ZSWIM6	.	nonframeshift deletion	ZSWIM6:NM_020928:exon1:c.55_57del:p.G26del	Acromelic frontonasal dysostosis, Autosomal dominant	354	755	241	48	124	461	0.182458	.	.	.	1644033	ZSWIM6-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0276	.	.	.	.	.	.	.	.	.	.	.	.	rs1472713066	0.0011	0.0084	0.0009	0.0013	0.0059	0.0010	0.0010	0.0050	0.0047	0.0013	0.0045	0.0029	0.0059	0.0061	0.0019	0.0008	0.0018	0.0005	9.451e-05	0.0002	9.224e-05	9.69e-05	0.0002	5.673e-05	4.479e-05	4.775e-05	3.077e-05	0.0001	0	6.727e-05	0	0	0	0	9.004e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1124.01	34	chr5	61332326	.	GGGC	G	1124.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.733;DP=144;ExcessHet=0.4139;FS=5.598;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.06;ReadPosRankSum=0.459;SOR=0.096	GT:AD:DP:GQ:PL	0/0:20,0:20:45:0,45,675	5	0	1	0
chr5	62373761	62373761	T	C	exonic	KIF2A	.	nonsynonymous SNV	KIF2A:NM_001243953:exon17:c.T1664C:p.I555T,KIF2A:NM_004520:exon17:c.T1721C:p.I574T,KIF2A:NM_001098511:exon18:c.T1835C:p.I612T,KIF2A:NM_001243952:exon18:c.T1640C:p.I547T	Cortical dysplasia, complex, with other brain malformations 3, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	1351450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0257501896858	7.7e-05	.	3.299e-05	0	0.0002	0	0	1.499e-05	0	6.065e-05	2.59e-05	4	154602	rs141548628	2.669e-05	2.668e-05	2.724e-05	2.614e-05	0.0007	1.998e-05	1.755e-05	0.0002	0.0001	0	8.945e-05	0	5.039e-05	0	0.0007	2.25e-05	3.314e-05	2.319e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0004	5.24e-06	2.45e-06	6.804e-05	2.848e-05	2.412e-05	0	0	0	0.0004	0	0	0	0	0	0.374	0.54683	T	0.35	0.52727	T	0.0	0.02946	B	0.001	0.06944	B	0.000042	0.53742	D	0.123679	0.995924	0.47118	D	1.015	0.25427	L	-0.73	0.73845	T	-1.78	0.60665	N	0.363	0.45615	-0.9078	0.47121	T	0.194	0.54710	T	10	0.13236716	0.25194	T	0.02575	0.48703	D	0.133	0.36157	.	.	0.615064545066	0.61195	0.5217094161348546	0.52093	0.912684184019	0.71120	0.720049262047	0.70053	T	0.074461	0.34944	T	-0.187526	0.22622	T	-0.281443	0.46657	T	0.124904071802792	0.14903	T	0.90161	0.78262	D	0.11659618	0.27498	0.12139345	0.29291	0.11659618	0.27498	0.12139345	0.29290	-2.206	0.06450	T	.	.	0.073	0.32104	B	.;.;.;.;.	.;.;.;.;.	3.900138	0.56807	23.8	0.98154930097328408	0.38722	0.98503	0.83469	D	AEFDBI	0.879807	0.80600	D	-0.198342896437339	0.33202	1.881099	0.0408879134822538	0.41633	2.504575	0.99999796483316	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	4.91	0.63897	7.649000	0.82656	6.145000	0.54110	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0658:0.0:0.9342	12.332	0.54368	900	0.24599	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1619.83	132	chr5	62373761	.	T	C	1619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.521;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.783;SOR=0.727	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1276	5	0	1	0
chr5	64214494	64214494	C	T	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.C1168T:p.R390C,RNF180:NM_001323292:exon4:c.C1168T:p.R390C,RNF180:NM_178532:exon4:c.C1168T:p.R390C	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.01314911162	.	.	0.0004	0	0.0004	0.0006	0	7.553e-05	0.0045	0.0020	0.0003428	53	154602	rs568069088	0.0002	0.0002	9.399e-05	0.0003	0.0028	0.0002	0.0002	0.0018	0.0017	2.992e-05	2.241e-05	0	0.0001	0	0.0028	4.59e-05	0.0002	0.0020	5.921e-05	5.913e-05	1.286e-05	0.0001	0.0010	3.08e-05	2.212e-05	0.0004	0.0003	0	0	6.551e-05	0	0.0002	0	0	2.941e-05	0	0.0010	0.012	0.58626	D	0.012	0.64786	D	0.998	0.73220	D	0.629	0.51727	P	0.000835	0.41547	D	0.225320	0.999783	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.0	0.39503	N	0.481	0.51583	-0.8978	0.48214	T	0.146	0.47111	T	10	0.03185287	0.01326	T	0.013149	0.32325	T	0.084	0.24469	0.402	0.43245	0.761594230518	0.75942	0.25658790452035035	0.25572	0.0428740681211	0.04625	0.20430521667	0.00593	T	0.096033	0.39742	T	-0.427602	0.01533	T	-0.393473	0.34145	T	0.0551114317964011	0.06376	T	0.849515	0.76145	T	0.12529731	0.29375	0.09049029	0.21224	0.12529731	0.29375	0.09049029	0.21223	-8.915	0.75294	D	.	.	0.168	0.36966	B	.;.	.;.	4.567653	0.72040	25.8	0.99774698077080604	0.86260	0.85381	0.44508	D	AEFBI	0.466442	0.51409	N	0.447421806961676	0.64056	4.651891	0.511528461528111	0.68763	5.265399	0.889454966045164	0.25813	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.85	5.85	0.93663	1.476000	0.35028	7.723000	0.67399	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.984000	0.60418	0.265:0.735:0.0:0.0	13.483	0.60802	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1589.83	43	chr5	64214494	.	C	T	1589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1;SOR=0.682	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr5	64717968	64717968	T	A	exonic	SHISAL2B	.	nonsynonymous SNV	SHISAL2B:NM_001164442:exon3:c.T429A:p.D143E	.	444	1073	4	1	0	6	0.0027881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00475912972066	0.0018	0.00159744	0.0015	0.0006	0	0	0.0013	0.0019	0	0.0015	0.0004657	72	154602	rs61742841	0.0016	0.0015	0.0015	0.0017	0.0034	0.0015	0.0015	0.0022	0.0018	0.0002	0.0006	0.0011	2.844e-05	0.0017	0.0034	0.0017	0.0016	0.0022	0.0017	0.0017	0.0018	0.0016	0.0031	0.0015	0.0015	0.0028	0.0026	0.0002	0	0.0006	0.0014	0	0.0011	0	0.0031	0	0.0031	0.332	0.13045	T	0.017	0.60337	D	.	.	.	.	.	.	0.006145	0.32237	N	0.252268	0.889003	0.27916	N	.	.	.	1.02	0.40749	T	-0.33	0.12472	N	0.081	0.05670	-1.0671	0.10062	T	0.046	0.19559	T	8	0.0047412515	0.00100	T	0.004759	0.11879	T	0.010	0.01040	0.352	0.35084	0.0138822411134	0.00435	0.225949625060176	0.22509	0.0952022656778	0.10748	0.392815589905	0.24066	T	0.00146	0.00916	T	-0.566266	0.00233	T	-0.583983	0.14190	T	0.0298218527406055	0.01962	T	0.433257	0.11819	T	0.044917043	0.07262	0.033415914	0.02234	0.044917043	0.07262	0.033415914	0.02234	-2.927	0.09416	T	.	.	0.089	0.12323	B	.	.	1.240719	0.16364	12.49	0.98568215702694106	0.43076	0.51133	0.28825	D	AEFDGI	0.156950	0.28238	N	-0.160288099176436	0.34798	1.990682	-0.107163080339621	0.35101	2.02675	0.913652699013321	0.26430	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.64	1.77	0.23848	-0.212000	0.09323	-0.566000	0.08452	0.665000	0.62972	0.978000	0.35038	0.072000	0.22236	0.998000	0.85391	0.1579:0.0881:0.1646:0.5894	2.147	0.03559	595	0.68488	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002513	0.000000	0.008475	0.008850	0.000000	0.000000	0.000000	0.000000	0.08333	722.83	40	chr5	64717968	.	T	A	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=268;ExcessHet=0;FS=1.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=1.52;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1263	5	0	1	0
chr5	66917015	66917015	A	G	exonic	MAST4	.	nonsynonymous SNV	MAST4:NM_015183:exon3:c.A104G:p.K35R,MAST4:NM_198828:exon5:c.A707G:p.K236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0393878540967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967963563	2.474e-05	2.227e-05	1.919e-05	2.948e-05	0.0002	1.435e-05	1.122e-05	2.29e-05	1.234e-05	0	8.641e-05	0	0	0	0.0002	2.525e-05	6.52e-05	0	1.971e-05	1.969e-05	1.285e-05	2.687e-05	0.0002	5.24e-06	2.45e-06	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.672	0.12246	T	0.996	0.68779	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	1.49	0.63738	T	-0.46	0.50337	N	0.394	0.43514	-0.9097	0.46891	T	0.167	0.50567	T	9	0.1498991	0.28928	T	0.039388	0.58779	D	0.135	0.36572	0.333	0.32005	0.595101170395	0.59188	.	.	.	.	.	.	.	0.050346	0.28569	T	-0.157841	0.27092	T	-0.270855	0.47734	T	0.243044525384903	0.22558	T	0.432757	0.25296	T	.	.	.	.	.	.	.	.	-2.587	0.10300	T	.	.	0.118	0.46825	B	.;.;.;.;.	.;.;.;.;.	2.873399	0.38005	20.6	0.51594811915073657	0.04591	0.83194	0.42332	D	AEFI	0.372380	0.45805	N	-0.151723472898742	0.35162	2.016147	-0.001376423090309	0.39653	2.354438	0.316561488195486	0.19341	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.22	4.22	0.49153	3.533000	0.53317	10.224000	0.83249	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	9.989	0.41032	861	0.33516	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	706.83	33	chr5	66917015	.	A	G	706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=239;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.008;SOR=0.856	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1260	5	0	1	0
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.08333	627.83	40	chr5	69414057	.	G	A	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.351;DP=252;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.882;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1105	5	0	1	0
chr5	71502726	71502726	A	T	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon15:c.A2176T:p.I726L	.	9	1431	74	8	0	90	0.0304878	.	.	.	500910	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0048	0.00379393	0.0056	0.0011	0.0047	0.0001	0.0002	0.0076	0.0100	0.0059	0.0054462	842	154602	rs34588160	0.0050	0.0050	0.0048	0.0053	0.0520	0.0049	0.0049	0.0472	0.0453	0.0027	0.0068	0.0287	0.0001	0.0001	0.0520	0.0043	0.0085	0.0068	0.0047	0.0047	0.0047	0.0048	0.0094	0.0045	0.0043	0.0082	0.0077	0.0008	0	0.0094	0.0314	0	0	0.0646	0.0054	0.0090	0.0060	0.964	0.02079	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.073714	0.02279	N	1.858550	1	0.08975	N	0.69	0.16971	N	2.77	0.11407	T	-0.21	0.10308	N	0.136	0.13484	-0.9768	0.35727	T	0.012	0.04510	T	10	0.0032429397	0.00055	T	.	.	.	0.024	0.04979	0.078	0.00601	0.0666544352282	0.05500	0.03314513103180605	0.03262	0.0372861232549	0.03950	0.247713685036	0.03531	T	0.005732	0.11224	T	-0.727399	0.00025	T	-0.81349	0.01588	T	0.00146636472080958	0.00015	T	0.616838	0.23625	T	0.023202907	0.01041	0.03177215	0.01813	0.024720207	0.01331	0.035487026	0.02809	-2.516	0.05891	T	.	.	0.094	0.14385	B	.;.	.;.	0.290408	0.06670	3.169	0.64207342975242188	0.07430	0.01812	0.05644	N	AEFBI	0.034522	0.04290	N	-1.79741032345659	0.00551	0.02374199	-1.90727798069213	0.00474	0.02097533	0.998651112745746	0.37392	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.979000	0.01583	-0.794000	0.07402	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1906:0.1176:0.6918:0.0	13.604	0.61503	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.048338	0.020202	0.069293	0.067251	0.000000	0.077586	0.021341	0.015152	0.08333	632.83	34	chr5	71502726	.	A	T	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=228;ExcessHet=0;FS=2.239;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.71;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1045	5	0	1	0
chr5	73794448	73794468	TATAAAGGTAATGAATGACTC	-	exonic	ARHGEF28	.	frameshift deletion	ARHGEF28:NM_001080479:exon8:c.957_963del:p.I320Vfs*18,ARHGEF28:NM_001177693:exon8:c.957_963del:p.I320Vfs*18	.	439	1080	2	1	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs772952528	9.739e-05	0.0001	9.198e-05	0.0001	0.0005	8.39e-05	7.926e-05	0.0003	0.0002	3.019e-05	2.299e-05	0.0005	0	0	0.0005	7.614e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0008	9.144e-05	7.7e-05	0.0003	0.0002	0	0	0	0.0017	0	0	0.0068	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	306.79	61	chr5	73794447	.	ATATAAAGGTAATGAATGACTC	A	306.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.661;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.511;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	5	0	1	0
chr5	73885876	73885876	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon17:c.C2143T:p.R715C,ARHGEF28:NM_001080479:exon25:c.C3082T:p.R1028C,ARHGEF28:NM_001177693:exon25:c.C3082T:p.R1028C	.	438	1082	2	0	0	2	0.000923361	.	.	.	3210257	ARHGEF28-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0194158631385	0.0006	0.000399361	0.0004	0	8.875e-05	0.0002	0	0.0004	0.0034	0.0007	0.0003816	59	154602	rs201386583	0.0006	0.0006	0.0006	0.0006	0.0087	0.0006	0.0006	0.0067	0.0060	6e-05	0.0002	7.663e-05	0.0001	0	0.0087	0.0007	0.0008	0.0003	0.0005	0.0005	0.0005	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0001	0.0033	0.0004	0	0	0	0.0204	0.0007	0	0.0002	1.0	0.00964	T	0.777	0.21545	T	0.0	0.07471	B	0.0	0.01387	B	.	.	.	.	0.676167	0.33189	D	-0.345	0.03330	N	-0.05	0.63403	T	3.24	0.00111	N	0.279	0.33030	-0.9824	0.34445	T	0.086	0.33522	T	9	0.013210118	0.00281	T	0.019416	0.41777	T	0.079	0.23065	.	.	0.212008924253	0.20833	0.1306337542982497	0.12988	0.0942058110094	0.10638	0.409478843212	0.26384	T	0.008068	0.07427	T	-0.437353	0.01340	T	-0.499562	0.22394	T	0.0326819877655445	0.02419	T	0.0633937	0.00855	T	0.042871688	0.06580	0.058115724	0.10685	0.042871688	0.06580	0.058115724	0.10684	0.632	0.00209	T	.	.	0.052	0.00341	B	.;.;.;.;.;.	.;.;.;.;.;.	2.511432	0.32436	19.04	0.080976575327245129	0.00057	0.13149	0.17691	N	AEFBI	0.072283	0.14419	N	-0.762856687257516	0.14286	0.7104234	-0.522480996234574	0.21543	1.165934	0.83339454330034	0.24733	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.74	4.59	0.56297	1.471000	0.34973	2.388000	0.32524	-0.690000	0.04136	0.937000	0.32526	0.999000	0.35428	0.912000	0.44740	0.0:0.1381:0.0:0.8619	9.796	0.39901	831	0.39019	.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008081	0.010204	0.004076	0.035088	0.000000	0.008621	0.000000	0.000000	0.08333	876.83	35	chr5	73885876	.	C	T	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.453;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.451;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	5	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	143.83	85	chr5	75118147	.	C	T	143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.512;DP=484;ExcessHet=0;FS=63.655;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.325;SOR=6.183	GT:AD:DP:GQ:PL	0/0:103,0:103:98:0,98,1875	5	0	1	0
chr5	75147405	75147405	G	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.C2006A:p.A669E,ANKRD31:NM_001372053:exon14:c.C2006A:p.A669E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0109425829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.435287	0.12697	N	0.641607	1	0.08975	N	-0.695	0.01866	N	0.83	0.56609	T	2.31	0.00668	N	0.362	0.40364	-0.9885	0.32978	T	0.040	0.17106	T	10	0.030340731	0.01160	T	0.010943	0.28041	T	0.092	0.26621	0.536	0.64585	0.0138822411134	0.00435	0.07624892334609808	0.07560	.	.	0.293622672558	0.09453	T	5.4E-4	0.00213	T	-0.190674	0.22160	T	-0.511667	0.21143	T	0.0483075817821566	0.05198	T	0.114689	0.00872	T	0.041764557	0.06212	0.07908235	0.17772	0.041764557	0.06211	0.07908235	0.17772	-2.277	0.04430	T	.	.	0.063	0.01491	B	.;.	.;.	-0.181556	0.03186	0.524	0.23991360613992066	0.01040	0.00253	0.01392	N	AEFI	0.021844	0.01021	N	-1.32508634113015	0.03390	0.1513651	-1.22697144878004	0.05481	0.2612383	6.04685270051114E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	1.29	0.20717	0.466000	0.21731	-0.482000	0.08913	-0.110000	0.15115	0.156000	0.23741	0.000000	0.08366	0.382000	0.26379	0.176:0.0956:0.1856:0.5427	1.501	0.02327	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	183.83	18	chr5	75147405	.	G	T	183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.071;DP=185;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.149;SOR=1.23	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1292	5	0	1	0
chr5	76131893	76131893	G	A	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon2:c.G143A:p.R48Q,SV2C:NM_014979:exon2:c.G143A:p.R48Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00239617	0.0013	0	0.0003	0	0	0	0.0022	0.0092	0.0011319	175	154602	rs542427646	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	0	0.0002	0	2.52e-05	0	0.0005	1.259e-05	0.0008	0.0095	0.0003	0.0003	0.0001	0.0005	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0.0093	0.069	0.35537	T	0.258	0.23707	T	0.202	0.29746	B	0.031	0.21939	B	0.000101	0.51296	N	0.177987	0.999964	0.52935	D	1.24	0.30952	L	1.65	0.27650	T	-0.82	0.22508	N	0.23	0.26717	-1.1031	0.03736	T	0.059	0.24575	T	10	0.0069297254	0.00157	T	.	.	.	0.030	0.07022	0.212	0.13066	0.453401982733	0.44964	0.1875627563254286	0.18674	0.181203500127	0.20376	0.425854414701	0.28642	T	0.016064	0.13351	T	-0.48807	0.00666	T	-0.467032	0.25837	T	0.0413380214556685	0.03934	T	0.962304	0.85835	D	0.09217138	0.21617	0.09825967	0.23419	0.09217138	0.21617	0.09825967	0.23418	-4.083	0.25039	T	.	.	0.103	0.19720	B	.;.	.;.	3.773273	0.54214	23.5	0.9990381183052317	0.97502	0.96508	0.69490	D	AEFBI	0.772772	0.70699	D	0.180573136562934	0.50267	3.218367	0.360720503389932	0.59155	4.091146	0.677023522852958	0.22437	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	5.871000	0.69377	8.727000	0.78176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1449:0.0:0.8551:0.0	10.388	0.43335	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1049.83	33	chr5	76131893	.	G	A	1049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=266;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.022;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	5	0	1	0
chr5	77636984	77636984	G	A	exonic	OTP	.	nonsynonymous SNV	OTP:NM_032109:exon2:c.C284T:p.A95V	.	430	1073	18	1	0	20	0.00923361	.	.	.	2827850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.189	0.041481411508	0.0038	0.00239617	0.0057	0.0005	0.0040	0	0.0011	0.0075	0.0055	0.0073	0.0052263	808	154602	rs148662448	0.0052	0.0052	0.0050	0.0054	0.0146	0.0051	0.0050	0.0121	0.0111	0.0008	0.0041	0.0229	2.519e-05	0.0007	0.0146	0.0051	0.0058	0.0067	0.0039	0.0039	0.0042	0.0037	0.0055	0.0037	0.0036	0.0051	0.0049	0.0012	0	0.0040	0.0222	0	0.0004	0.0068	0.0055	0.0062	0.0041	0.044	0.41096	D	0.265	0.22694	T	0.164	0.28467	B	0.027	0.21085	B	0.777347	0.06633	N	1.125700	0.87462	0.35629	D	0	0.06538	N	-3.77	0.95595	D	-0.89	0.24026	N	0.259	0.29313	-0.2946	0.75136	T	0.614	0.86334	D	10	0.0064309537	0.00146	T	0.041481	0.59948	D	0.189	0.46613	.	.	0.44573540394	0.44196	0.27040516834635187	0.26953	0.857873265978	0.68834	0.600927710533	0.53035	T	0.082963	0.36947	T	-0.286225	0.10017	T	-0.179914	0.56531	T	0.0161223072741637	0.00389	T	0.711029	0.32195	T	0.18169217	0.39352	0.22694777	0.47689	0.18169217	0.39351	0.22694777	0.47688	-5.655	0.43291	T	.	.	0.087	0.11220	B	.	.	3.078151	0.41403	21.3	0.99834735827239218	0.91628	0.96602	0.69965	D	AEFDBHCI	0.706198	0.66133	D	-0.190808562669223	0.33516	1.902364	0.01489791002276	0.40407	2.410867	0.999999798589473	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.42	4.53	0.55009	2.500000	0.45040	5.037000	0.46877	0.676000	0.76740	0.753000	0.29166	1.000000	0.68203	1.000000	0.97212	0.0:0.1428:0.8572:0.0	15.072	0.71718	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.002924	0.000000	0.017241	0.021341	0.003788	0.08333	1345.83	111	chr5	77636984	.	G	A	1345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.964;DP=287;ExcessHet=0;FS=0.705;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.168;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	5	0	1	0
chr5	78780596	78780596	G	T	exonic	ARSB	.	nonsynonymous SNV	ARSB:NM_000046:exon8:c.C1403A:p.P468Q	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.113633246831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.364	0.16766	T	0.162	0.28404	B	0.15	0.34161	B	0.000218	0.47681	D	0.185274	0.953801	0.37847	D	2.76	0.80626	M	-2.97	0.92007	D	-2.59	0.55821	D	0.214	0.23884	0.376	0.88729	D	0.732	0.90848	D	10	0.3390531	0.50999	T	0.113633	0.79221	D	0.420	0.72930	0.421	0.46365	0.956889698939	0.95643	0.6995164962257864	0.69892	0.633908041635	0.57265	0.288628697395	0.08723	T	0.611715	0.87704	D	0.113151	0.65676	D	-0.0752435	0.65249	T	0.980016946792603	0.73133	D	0.742326	0.36163	T	0.24435365	0.47383	0.14900166	0.35198	0.24435365	0.47383	0.14900166	0.35198	-4.229	0.27169	T	.	.	0.079	0.07365	B	.	.	3.160174	0.42816	21.6	0.99178207198095691	0.54585	0.86735	0.46080	D	AEFBCI	0.572324	0.57595	D	0.103827565436149	0.46642	2.901363	0.203802645611576	0.50058	3.201897	0.999999276336234	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	4.71	0.59010	5.447000	0.66352	4.349000	0.43081	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.075:0.0:0.925:0.0	13.460	0.60675	814	0.42100	.	.	.	.	.	.	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	133.83	37	chr5	78780596	.	G	T	133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.654;DP=267;ExcessHet=0;FS=41.656;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=1.36;SOR=5.728	GT:AD:DP:GQ:PL	0/1:58,19:77:99:144,0,1506	5	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	42.7	35	chr5	79044510	.	T	C	42.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.123;DP=311;ExcessHet=0;FS=19.731;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.671;SOR=4.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:52:0|1:79044510_T_C:52,0,2400:79044510	4	0	1	1
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	41.83	35	chr5	79044511	.	G	A	41.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.082;DP=299;ExcessHet=0;FS=19.731;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.613;SOR=4.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:52:0|1:79044510_T_C:52,0,2400:79044510	5	0	1	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.08333	2401.83	33	chr5	79730516	.	A	C	2401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.91;DP=407;ExcessHet=0;FS=2.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.022;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.08333	885.83	33	chr5	79734800	.	C	T	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.731;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.242;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr5	80437800	80437800	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C1115T:p.P372L,ZFYVE16:NM_014733:exon3:c.C1115T:p.P372L,ZFYVE16:NM_001105251:exon4:c.C1115T:p.P372L,ZFYVE16:NM_001284236:exon4:c.C1115T:p.P372L,ZFYVE16:NM_001349434:exon4:c.C1115T:p.P372L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0102667721194	.	0.000199681	1.651e-05	9.653e-05	0	0	0	0	0	6.076e-05	1.94e-05	3	154602	rs552749201	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	2.995e-05	2.038e-05	8.962e-05	2.236e-05	0	2.519e-05	0	0.0002	8.993e-07	1.656e-05	6.957e-05	1.314e-05	1.312e-05	2.57e-05	0	4.816e-05	2.18e-06	8.2e-07	7.98e-06	2.99e-06	4.816e-05	0	0	0	0	0	0	0	0	0	0.301	0.14449	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.158441	0.03019	N	1.724340	1	0.08975	N	0.345	0.11182	N	1.24	0.36691	T	-1.85	0.43334	N	0.07	0.07262	-1.0340	0.19173	T	0.058	0.24354	T	10	0.02803284	0.00940	T	0.010267	0.26610	T	0.023	0.04649	0.152	0.05544	0.372087925617	0.36815	0.04951685289557896	0.04894	0.0460240649489	0.04998	0.214086413383	0.00997	T	0.005607	0.05061	T	-0.449107	0.01143	T	-0.679288	0.07027	T	0.014422748014418	0.00291	T	0.448055	0.12582	T	0.025969911	0.01596	0.024362959	0.00454	0.025969911	0.01595	0.024362959	0.00454	-2.922	0.09365	T	0.20550888505764425	0.27418	0.070	0.04198	B	.;.;.	.;.;.	0.764462	0.11341	7.961	0.34596013982793317	0.02125	0.10568	0.16038	N	AEFGBI	0.067271	0.13216	N	-1.16591215548909	0.05523	0.2520091	-1.14776516057411	0.06808	0.3289739	0.0838868320673337	0.15940	0.719381	0.83141	0	0.546412	0.12157	0	0.608884	0.39905	0	0.733575	0.97253	0	.	.	5.1	1.67	0.23149	1.158000	0.31347	2.109000	0.30648	-0.059000	0.16651	0.001000	0.13787	0.001000	0.17328	0.011000	0.09372	0.4981:0.4149:0.087:0.0	7.072	0.24360	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1297.83	33	chr5	80437800	.	C	T	1297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.91;DP=368;ExcessHet=0;FS=3.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.03;SOR=0.69	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	5	0	1	0
chr5	80654905	80654905	G	C	exonic	MSH3	.	nonsynonymous SNV	MSH3:NM_002439:exon1:c.G178C:p.A60P	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	516	765	147	13	81	254	0.101585	.	.	.	623004	not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|Constitutional_megaloblastic_anemia_with_severe_neurologic_disease	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013456,MedGen:C3151205,OMIM:613839,Orphanet:319651	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	Cavernous_sinus_meningioma	MONDO:MONDO:0002996,MedGen:C1332865	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	0.220	.	.	0.0207668	0.0123	0.0041	0.0068	0.0047	0.0046	0.0162	0.0290	0.0093	0.0086674	1340	154602	rs2001675	0.0093	0.0093	0.0093	0.0092	0.0146	0.0091	0.0091	0.0121	0.0111	0.0032	0.0045	0.0159	0.0065	0.0048	0.0146	0.0099	0.0086	0.0069	0.0095	0.0091	0.0103	0.0088	0.0139	0.0090	0.0088	0.0131	0.0127	0.0050	0	0.0039	0.0192	0.0021	0.0050	0.0165	0.0139	0.0160	0.0085	1.0	0.00964	T	0.308	0.19845	T	0.131	0.27154	B	0.07	0.27859	B	.	.	.	.	3.9078e-08	0.58761	P	0	0.06538	N	-2.23	0.87116	D	0.72	0.02099	N	0.246	0.27792	-1.1240	0.02093	T	0.000	0.00075	T	7	0.0024684668	0.00037	T	.	.	.	0.220	0.51569	.	.	.	.	0.22548222237945684	0.22463	0.0300485160316	0.03099	0.584103405476	0.50664	T	0.076215	0.35366	T	-0.357316	0.04284	T	-0.271756	0.47641	T	0.00287325160120042	0.00030	T	0.214779	0.02659	T	0.07356919	0.16447	0.17325433	0.39639	0.07559062	0.17040	0.17325433	0.39638	-5.993	0.46221	T	.	.	0.081	0.08465	B	.	.	1.027988	0.14078	10.65	0.7648625718472859	0.11487	0.08520	0.14438	N	AEFGBHCIJ	0.100693	0.20241	N	-1.1288704806175	0.06134	0.2815814	-1.15061482071042	0.06757	0.3263275	0.999999999949268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.67	-0.189	0.12608	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.003000	0.16062	0.349000	0.24462	0.046000	0.14843	0.0:0.0:0.6183:0.3817	8.804	0.34086	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.090522	0.147727	0.077348	0.080420	0.150000	0.045455	0.075472	0.073077	0.08333	421.05	33	chr5	80654905	.	G	C	421.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.929;DP=215;ExcessHet=0.4139;FS=4.011;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.534;SOR=0.529	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	5	0	1	0
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.016304	0.008772	0.050000	0.008621	0.003049	0.000000	0.08333	1024.83	33	chr5	81330515	.	C	G	1024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=252;ExcessHet=0;FS=0.907;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.03;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	5	0	1	0
chr5	83519829	83519829	T	A	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.T1523A:p.I508N,VCAN:NM_004385:exon7:c.T1523A:p.I508N	Wagner syndrome 1, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	298232	Vitreoretinopathy|not_provided|Wagner_syndrome	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0877976089908	0.0033	0.00139776	0.0029	0.0007	0.0010	0	0.0009	0.0049	0.0033	0.0001	0.0030271	468	154602	rs143368552	0.0034	0.0034	0.0035	0.0034	0.0042	0.0034	0.0033	0.0041	0.0041	0.0006	0.0014	0.0002	0	0.0010	0.0040	0.0042	0.0029	0.0003	0.0027	0.0027	0.0031	0.0022	0.0049	0.0024	0.0024	0.0045	0.0043	0.0007	0	0.0013	0.0012	0	0.0006	0.0102	0.0049	0.0024	0	0.005	0.68238	D	0.225	0.48336	T	0.454	0.36182	P	0.107	0.37837	B	0.957349	0.08247	N	0.979057	1	0.08975	N	1.5	0.37844	L	-1.88	0.85247	D	-0.67	0.23156	N	0.206	0.32812	-0.6632	0.62135	T	0.350	0.71431	T	10	0.0040870905	0.00080	T	0.087798	0.75008	D	0.173	0.43840	.	.	0.292942362817	0.28906	0.1050022236089348	0.10430	0.208469342554	0.23317	0.247759476304	0.03535	T	0.158387	0.50138	T	-0.389671	0.02704	T	-0.3299	0.41479	T	0.00356590559748034	0.00038	T	0.734827	0.35112	T	0.121883705	0.28653	0.064520426	0.12944	0.14654644	0.33541	0.06524507	0.13195	-5.446	0.42692	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	1.072521	0.14550	11.12	0.87688088677568676	0.17409	0.05503	0.11390	N	AEFBI	0.063346	0.12235	N	-0.932756194504601	0.10083	0.4801477	-1.05516256854361	0.08600	0.4236068	0.999768823490462	0.42728	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.77	-2.17	0.06663	-0.077000	0.11356	0.047000	0.13948	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.755000	0.35964	0.1152:0.3432:0.2289:0.3127	1.692	0.02680	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.003788	0.08333	1907.83	34	chr5	83519829	.	T	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=340;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.46;SOR=0.566	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr5	88225822	88225822	T	C	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001289007:exon4:c.A236G:p.K79R,TMEM161B:NM_001349407:exon4:c.A236G:p.K79R,TMEM161B:NM_153354:exon4:c.A236G:p.K79R,TMEM161B:NM_001289008:exon5:c.A203G:p.K68R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.00471701314098	.	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs199607857	6.167e-06	6.156e-06	1.091e-05	1.377e-06	8.102e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.102e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.031	0.21939	B	0.000001	0.84330	D	0.087631	1	0.81001	D	0.75	0.19020	N	.	.	.	1.3	0.00948	N	0.469	0.52029	-1.0093	0.27136	T	0.091	0.34928	T	9	0.17639425	0.32621	T	0.004717	0.11753	T	0.250	0.55888	0.425	0.47021	0.0716867268079	0.06686	0.5041914484464938	0.50341	0.195176169388	0.21857	0.698019981384	0.66858	T	0.008625	0.08348	T	0.0432784	0.57474	T	-0.160124	0.58341	T	0.529876828193665	0.33730	D	0.916108	0.71716	D	0.117753886	0.27755	0.117760606	0.28427	0.117753886	0.27755	0.117760606	0.28427	-4.313	0.28358	T	.	.	0.089	0.14201	B	.;.;.	.;.;.	2.907332	0.38556	20.8	0.76960966547124376	0.11679	0.98907	0.88457	D	AEFBI	0.920434	0.89241	D	-0.290040370410524	0.29532	1.638533	-0.0467955071053449	0.37630	2.205832	0.99998892169972	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.91	4.91	0.63897	7.544000	0.81063	7.899000	0.73451	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.833	0.69795	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	859.83	34	chr5	88225822	.	T	C	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=259;ExcessHet=0;FS=1.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.957;SOR=0.835	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	5	0	1	0
chr5	90506565	90506565	A	T	exonic	POLR3G	.	nonsynonymous SNV	POLR3G:NM_001370351:exon7:c.A476T:p.E159V,POLR3G:NM_001370352:exon7:c.A473T:p.E158V,POLR3G:NM_001370353:exon7:c.A473T:p.E158V,POLR3G:NM_001370354:exon7:c.A476T:p.E159V,POLR3G:NM_006467:exon7:c.A476T:p.E159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00656997879315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.006	0.70582	D	0.999	0.77913	D	0.995	0.83170	D	0.000300	0.46274	D	0.147080	0.99651	0.43249	D	2.495	0.72670	M	.	.	.	-2.67	0.57110	D	0.395	0.43610	-0.3951	0.72181	T	0.328	0.69572	T	9	0.22701609	0.39570	T	0.00657	0.17329	T	0.094	0.27141	0.156	0.05964	0.559387959211	0.55600	.	.	0.085804670794	0.09698	0.603498339653	0.53398	T	0.048963	0.38943	T	0.0192445	0.54279	T	-0.210133	0.53683	T	0.903496980667114	0.55672	D	0.819018	0.50404	T	0.18516532	0.39866	0.22599459	0.47562	0.18516532	0.39866	0.22599459	0.47561	-6.239	0.48237	T	.	.	0.261	0.49922	B	.;.;.	.;.;.	3.726142	0.53274	23.3	0.98479360837283281	0.41954	0.79156	0.39171	D	AEFBI	0.442485	0.50019	N	0.597172251384416	0.72999	5.89474	0.537402490844097	0.70526	5.518134	0.366327516862863	0.19826	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	3.361000	0.52028	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.002	0.41105	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	219.83	33	chr5	90506565	.	A	T	219.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=235;ExcessHet=0;FS=1.345;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.279;SOR=0.939	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	5	0	1	0
chr5	90518934	90518934	T	C	exonic	LYSMD3	.	nonsynonymous SNV	LYSMD3:NM_198273:exon3:c.A806G:p.Q269R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0104990336179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271299580	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.561	0.09083	T	0.047	0.21998	B	0.036	0.22909	B	0.039045	0.24214	N	0.416680	0.531183	0.81001	D	1.935	0.51832	L	1.89	0.23688	T	-0.59	0.17624	N	0.12	0.11054	-0.6921	0.60810	T	0.155	0.48687	T	10	0.06851506	0.09701	T	0.010499	0.27109	T	0.050	0.13987	0.073	0.00466	0.206203607746	0.20212	0.24550719312082847	0.24464	0.148680584697	0.16773	0.27767598629	0.07171	T	0.010163	0.09205	T	-0.181219	0.23555	T	-0.498085	0.22546	T	0.245223089820354	0.22658	T	0.587441	0.21491	T	0.10373464	0.24519	0.17456894	0.39862	0.10373464	0.24519	0.17456894	0.39861	-3.795	0.20730	T	.	.	0.080	0.07985	B	.	.	2.211200	0.28211	17.72	0.99747995668306477	0.84002	0.77623	0.38187	D	ALL	0.559680	0.56839	D	0.0823258051236295	0.45639	2.817109	0.223739257658103	0.51167	3.301689	0.999999999995705	0.74766	0.730579	0.87903	0	0.723133	0.82719	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.84	5.84	0.93373	1.795000	0.38418	2.408000	0.32627	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.0:0.0:1.0	15.394	0.74498	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1374.83	49	chr5	90518934	.	T	C	1374.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.793;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1385,0,1495	5	0	1	0
chr5	90728846	90728846	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon49:c.G10339A:p.E3447K	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	1	1500	21	0	0	21	0.00695134	.	.	.	55412	ADGRV1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	.	.	0.00159744	0.0015	0.0001	8.667e-05	0	0	6.001e-05	0	0.0108	0.0012742	197	154602	rs397517419	0.0007	0.0007	0.0004	0.0010	0.0110	0.0007	0.0006	0.0104	0.0101	0	0	0	0	0	0.0016	1.799e-05	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0110	0.02	0.49613	D	0.047	0.48855	D	0.956	0.54666	P	0.549	0.49194	P	0.000451	0.44317	D	0.262127	0.980157	0.39637	D	.	.	.	1.7	0.26885	T	-1.58	0.38151	N	0.374	0.41557	-1.0382	0.17863	T	0.097	0.36445	T	10	0.0059939027	0.00134	T	.	.	.	0.140	0.37593	0.424	0.46857	0.526437037968	0.52289	0.3945631350013343	0.39371	0.0526002769708	0.05794	0.349464476109	0.17843	T	0.108228	0.42109	T	-0.389732	0.02701	T	-0.323204	0.42221	T	0.0352824290309916	0.02857	T	0.787321	0.42620	T	0.19309202	0.41005	0.1755088	0.40021	0.20817097	0.43045	0.22336018	0.47211	-6.602	0.51068	T	.	.	0.119	0.24430	B	.;.	.;.	3.287277	0.45070	22.1	0.99695669721693359	0.80248	0.89116	0.49390	D	AEFBI	0.273463	0.38886	N	0.093646590627086	0.46167	2.861257	0.0799428086623799	0.43540	2.653727	0.360329683292196	0.19771	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.785000	0.47470	7.562000	0.60503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.176000	0.21171	0.0:0.13:0.87:0.0	16.590	0.84614	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.022727	0.08333	2886.83	33	chr5	90728846	.	G	A	2886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.977;DP=410;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.245;SOR=0.892	GT:AD:DP:GQ:PL	0/1:125,114:239:99:2897,0,3107	5	0	1	0
chr5	90811174	90811174	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon74:c.A15914G:p.D5305G	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	.	.	.	.	.	.	.	.	YES	1508356	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.00925634705501	.	.	4.249e-05	0	0	0	0	7.672e-05	0	0	3.23e-05	5	154602	rs752282559	8.895e-06	8.893e-06	5.446e-06	1.238e-05	1.079e-05	4.96e-06	3.82e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	2.628e-05	2.626e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.065	0.36310	T	0.064	0.44905	T	0.379	0.34321	B	0.272	0.39956	B	0.010070	0.30079	N	0.389540	0.990954	0.41274	D	.	.	.	1.51	0.30937	T	-2.65	0.56787	D	0.342	0.38335	-1.0187	0.24139	T	0.107	0.38931	T	9	0.25447017	0.42827	T	0.009256	0.24319	T	0.115	0.32236	.	.	0.585961050355	0.58270	0.6358285190026367	0.63516	0.340541529389	0.35994	0.307649701834	0.11552	T	0.167395	0.51400	T	-0.228825	0.16804	T	-0.436016	0.29256	T	0.834755659103394	0.48905	D	0.732627	0.34815	T	0.16322127	0.36449	0.22528839	0.47469	0.16322127	0.36449	0.22528839	0.47468	-7.402	0.56919	T	.	.	0.145	0.36475	B	.;.;.	.;.;.	3.916883	0.57157	23.8	0.98992653850997359	0.49983	0.98909	0.88484	D	AEFBI	0.701410	0.65811	D	0.0660099452193247	0.44882	2.754291	0.165609774432466	0.47975	3.019852	0.19580573067223	0.18057	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.217000	0.65084	7.917000	0.74325	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	1.0:0.0:0.0:0.0	15.345	0.74036	769	0.49307	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	3877.04	33	chr5	90811174	.	A	G	3877.04	.	AC=2;AF=0.167;AN=12;DP=348;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.78;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	5	1	0	0
chr5	95414041	95414041	G	C	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.G388C:p.E130Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00650525635296	.	0.000199681	8.284e-06	0	8.673e-05	0	0	0	0	0	1.29e-05	2	154602	rs533288754	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	1.78e-05	8.93e-06	2.987e-05	6.711e-05	0	0	0	0.0002	6.295e-06	3.311e-05	0	6.571e-06	6.563e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.02	0.58613	D	.	.	.	.	.	.	0.004031	0.34196	N	0.311070	0.999312	0.21372	N	.	.	.	1.9	0.23486	T	-1.92	0.44657	N	0.195	0.21449	-0.9925	0.31959	T	0.071	0.29066	T	10	0.09542501	0.17043	T	0.006505	0.17129	T	0.085	0.24743	0.392	0.41606	0.376039117802	0.37211	0.23900577758242494	0.23814	0.195479972318	0.21887	0.376467168331	0.21755	T	.	.	.	-0.264148	0.12417	T	-0.44136	0.28656	T	0.246596843004227	0.22720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31507	B	.	.	2.609998	0.33897	19.47	0.98834100264384017	0.47002	0.69274	0.34123	D	AEFGBI	0.147938	0.27171	N	-0.141746193183218	0.35588	2.045971	-0.124249864945333	0.34415	1.97935	0.754768018252683	0.23416	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	4.66	0.57857	1.642000	0.36823	6.623000	0.56126	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.868000	0.41282	0.0791:0.1514:0.7695:0.0	8.921	0.34772	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	.	.	.	.	.	.	.	.	0.08333	1597.83	86	chr5	95414041	.	G	C	1597.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.12;DP=503;ExcessHet=0;FS=10.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.221;SOR=0.579	GT:AD:DP:GQ:PL	0/1:107,69:176:99:1608,0,2791	5	0	1	0
chr5	95414053	95414053	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.C400T:p.R134C	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0068	0.00439297	0.0050	0.0014	0.0031	0	0.0017	0.0068	0.0078	0.0050	0.0049741	769	154602	rs76962324	0.0067	0.0067	0.0066	0.0067	0.0173	0.0065	0.0065	0.0146	0.0136	0.0016	0.0040	0.0050	5.038e-05	0.0021	0.0173	0.0074	0.0068	0.0055	0.0049	0.0049	0.0049	0.0048	0.0078	0.0046	0.0045	0.0072	0.0070	0.0015	0	0.0046	0.0035	0	0.0021	0.0238	0.0078	0.0080	0.0041	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000039	0.55875	D	0.085547	0.997046	0.43591	D	.	.	.	1.94	0.22678	T	-5.39	0.85027	D	0.658	0.66787	-0.9516	0.40695	T	0.106	0.38587	T	10	0.010783225	0.00239	T	.	.	.	0.253	0.56294	.	.	0.307648195649	0.30373	0.47366088601789136	0.47285	0.530407751899	0.50578	0.376723438501	0.21792	T	.	.	.	-0.339863	0.05397	T	-0.257101	0.49114	T	0.0388660275550963	0.03486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	5.268109	0.88451	29.6	0.99939570940083844	0.99734	0.80067	0.39806	D	AEFGBI	0.459933	0.51033	N	0.717791549098515	0.80798	7.374928	0.684031709257305	0.81166	7.463709	0.938823137378373	0.27360	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	1.640000	0.36801	4.887000	0.45725	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1589:0.8411:0.0:0.0	13.251	0.59479	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	0.016616	0.005051	0.016304	0.032164	0.000000	0.025862	0.015244	0.011364	0.08333	1620.83	86	chr5	95414053	.	C	T	1620.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=506;ExcessHet=0;FS=10.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.875;SOR=0.752	GT:AD:DP:GQ:PL	0/1:109,68:177:99:1631,0,2707	5	0	1	0
chr5	96785792	96785792	C	T	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon13:c.G1939A:p.V647I,ERAP1:NM_001198541:exon13:c.G1939A:p.V647I,ERAP1:NM_001349244:exon13:c.G1939A:p.V647I,ERAP1:NM_016442:exon13:c.G1939A:p.V647I	.	427	1045	47	3	0	53	0.0247317	.	.	.	2827895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.276	.	0.0018	0.00159744	0.0034	0.0007	0.0029	0	0.0002	0.0020	0.0078	0.0137	0.0030724	475	154602	rs111363347	0.0026	0.0026	0.0022	0.0030	0.0243	0.0026	0.0025	0.0210	0.0198	0.0004	0.0020	0.0022	7.558e-05	0.0001	0.0243	0.0018	0.0033	0.0149	0.0016	0.0016	0.0016	0.0017	0.0101	0.0015	0.0014	0.0079	0.0071	0.0002	0	0.0027	0.0014	0.0002	0	0.0204	0.0018	0.0057	0.0101	0.034	0.44029	D	0.028	0.54934	D	0.993	0.66517	D	0.955	0.72923	D	0.000200	0.48115	D	0.179513	0.999999	0.58761	D	2.885	0.83555	M	3.32	0.06214	T	-0.75	0.21003	N	0.322	0.36359	-1.1379	0.01439	T	0.076	0.30429	T	10	0.0092540085	0.00209	T	.	.	.	0.276	0.59253	.	.	0.416956310301	0.41315	0.6255793439771128	0.62490	0.348272605842	0.36702	0.387608021498	0.23332	T	0.061309	0.31620	T	-0.423924	0.01615	T	-0.370037	0.36884	T	0.0450658334183876	0.04613	T	0.975602	0.91418	D	0.5307451	0.68873	0.57157373	0.75189	0.5307451	0.68874	0.57157373	0.75190	-8.234	0.62654	D	.	.	0.173	0.40376	B	.;.	.;.	4.297696	0.65597	24.9	0.99856502613431009	0.93548	0.95510	0.65007	D	AEFGBCI	0.785201	0.71565	D	0.744243113532959	0.82529	7.785265	0.682845202672003	0.81076	7.443103	0.999999999999986	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.77	5.77	0.91077	7.537000	0.80946	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:1.0:0.0:0.0	19.593	0.95520	893	0.26510	.;ERAP1-like C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.015152	0.020380	0.020468	0.050000	0.034483	0.006098	0.015152	0.08333	1609.83	65	chr5	96785792	.	C	T	1609.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.527;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.156;SOR=0.627	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1620,0,1750	5	0	1	0
chr5	96880181	96880181	A	G	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001130140:exon2:c.A496G:p.M166V,ERAP2:NM_001329229:exon2:c.A496G:p.M166V,ERAP2:NM_001329233:exon2:c.A496G:p.M166V,ERAP2:NM_022350:exon2:c.A496G:p.M166V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00420034407726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.095	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.004318	0.33881	N	0.237437	0.999968	0.18878	N	-0.33	0.03531	N	4.41	0.03239	T	0.0	0.07590	N	0.235	0.27910	-0.9361	0.43226	T	0.006	0.01944	T	10	0.13595927	0.25870	T	0.004	0.10121	T	0.074	0.21613	0.532	0.64002	0.137902524267	0.13322	0.4005938978948853	0.39974	0.0480841758058	0.05242	0.356558382511	0.18884	T	0.004826	0.04238	T	-0.255661	0.13414	T	-0.605016	0.12394	T	0.443686276674271	0.30565	T	0.425957	0.14488	T	0.3642179	0.58155	0.18565701	0.41691	0.3642179	0.58155	0.18565701	0.41690	-6.281	0.48571	T	.	.	0.075	0.21913	B	.;.;.;.	.;.;.;.	2.140780	0.27259	17.40	0.92515658505232523	0.21955	0.80632	0.40219	D	AEFDGBCI	0.195656	0.32268	N	-0.515785677470007	0.21569	1.14566	-0.36140343089793	0.26158	1.443047	0.999993503182072	0.74766	0.553676	0.25195	0	0.516746	0.08562	0	0.618467	0.43123	0	0.466023	0.07079	0	.	.	4.55	3.38	0.37806	2.956000	0.48822	1.222000	0.24983	0.567000	0.28720	0.988000	0.36536	0.003000	0.18671	0.938000	0.47775	0.9069:0.0:0.0931:0.0	8.831	0.34246	904	0.23766	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1648.83	39	chr5	96880181	.	A	G	1648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=296;ExcessHet=0;FS=1.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.12;SOR=0.868	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1346	5	0	1	0
chr5	100856145	100856145	C	T	exonic	ST8SIA4	.	nonsynonymous SNV	ST8SIA4:NM_005668:exon4:c.G755A:p.R252Q	.	.	.	.	.	.	.	.	.	.	.	2355467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0186066949194	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781048508	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.416e-05	8.887e-05	7.054e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-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	0.006	0.61437	D	0.151	0.32355	T	0.195	0.29512	B	0.105	0.31087	B	0.000103	0.50451	N	0.078508	0.999985	0.54805	D	0.885	0.21608	L	1.58	0.29085	T	-0.57	0.17210	N	0.301	0.34012	-1.0949	0.04766	T	0.065	0.26948	T	10	0.13723817	0.26107	T	0.018607	0.40730	T	0.152	0.39956	0.599	0.72984	0.082315109003	0.07666	0.9035250074962626	0.90325	0.594624967329	0.54773	0.689371645451	0.65616	T	0.128226	0.45575	T	-0.239793	0.15375	T	-0.379569	0.35774	T	0.197557049205132	0.20281	T	0.928807	0.73814	D	0.1444946	0.33165	0.10617818	0.25540	0.1444946	0.33165	0.10617818	0.25539	-4.676	0.33112	T	.	.	0.075	0.05623	B	.	.	3.162719	0.42862	21.6	0.99948285012871207	0.99923	0.96615	0.70031	D	AEFDGBIJ	0.805032	0.72973	D	-0.188802917842513	0.33600	1.908056	-0.0815197045877418	0.36153	2.100457	0.999999999988326	0.74766	0.706548	0.73137	0	0.819298	0.99779	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.935000	0.69862	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.924:0.0:0.076	13.282	0.59655	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1122.83	34	chr5	100856145	.	C	T	1122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.821;DP=272;ExcessHet=0;FS=8.235;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.137;SOR=0.246	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1133,0,1497	5	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	252.91	14	chr5	102270770	.	G	A	252.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.108;DP=242;ExcessHet=0.4139;FS=50.558;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.63;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:16:.:.:0,16,759:.	4	0	1	1
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	252.91	14	chr5	102270770	.	G	C	252.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.108;DP=242;ExcessHet=0.4139;FS=50.558;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.63;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:16:.:.:0,16,759:.	4	0	1	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	257.06	26	chr5	102270771	.	T	C	257.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.444;DP=252;ExcessHet=0.4139;FS=50.558;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.73;ReadPosRankSum=1.55;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1087:.	4	0	2	0
chr5	102296244	102296244	T	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon1:c.A19T:p.I7F	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.024389223275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	6.84e-07	0	1.45e-06	9.239e-07	0	0	.	.	0	0	0	0	0	0	9.239e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.004	0.65419	D	0.0	0.92824	D	0.006	0.13644	B	0.003	0.08700	B	0.055470	0.02073	N	2.384480	1	0.08975	N	1.04	0.26193	L	0.91	0.44856	T	-1.19	0.30346	N	0.286	0.32370	-1.0166	0.24819	T	0.099	0.36907	T	10	0.089298695	0.15457	T	0.024389	0.47377	T	0.063	0.18251	0.384	0.40298	0.117506650769	0.11410	0.4594230961124838	0.45860	0.0577436462115	0.06399	0.606148898602	0.53773	T	0.013449	0.11628	T	-0.164787	0.26025	T	-0.474482	0.25035	T	0.3049276471138	0.25206	T	0.725627	0.33984	T	0.11301921	0.26695	0.078866005	0.17704	0.11301921	0.26695	0.078866005	0.17703	-2.907	0.09213	T	.	.	0.070	0.03336	B	.	.	1.608163	0.20553	14.80	0.86414388003736164	0.16520	0.49913	0.28542	N	ALL	0.045576	0.07471	N	-0.996578957448715	0.08677	0.4077298	-1.06418366971145	0.08414	0.4135977	0.999999999584498	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.11	-1.63	0.07900	0.193000	0.16921	-0.780000	0.07458	-0.186000	0.09761	0.654000	0.28207	0.010000	0.20010	0.012000	0.09680	0.1596:0.2879:0.0:0.5525	3.615	0.07617	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	680.83	40	chr5	102296244	.	T	A	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.888;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.755;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr5	102498660	102498660	C	T	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289002:exon1:c.G185A:p.G62D,SLCO6A1:NM_001289004:exon1:c.G185A:p.G62D,SLCO6A1:NM_001308014:exon1:c.G185A:p.G62D,SLCO6A1:NM_173488:exon1:c.G185A:p.G62D	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00473244710884	0.0002	0.000998403	0.0010	0	0.0002	0	0	5.994e-05	0	0.0070	0.0008215	127	154602	rs139540296	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.987e-05	0.0001	0	7.557e-05	0	0.0012	4.317e-05	0.0003	0.0073	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.404e-05	0	0.0001	0	0	0	0.0068	5.88e-05	0	0.0058	0.178	0.29158	T	0.334	0.26467	T	0.94	0.60036	P	0.403	0.53442	B	0.000007	0.00162	N	7.138780	1	0.08975	N	0.805	0.20218	L	0.97	0.44856	T	-2.4	0.56630	N	0.085	0.19459	-1.0017	0.29430	T	0.093	0.35471	T	10	0.004949361	0.00106	T	0.004732	0.11784	T	0.119	0.33137	.	.	0.226586394389	0.22295	0.269533062504825	0.26866	0.281082333658	0.30582	0.273463100195	0.06597	T	0.121128	0.44386	T	-0.621164	0.00108	T	-0.660751	0.08215	T	0.0913392641420458	0.11376	T	0.59564	0.22108	T	0.088346764	0.20607	0.09878061	0.23563	0.088346764	0.20606	0.09878061	0.23562	-4.459	0.30348	T	.	.	0.225	0.60090	B	.;.;.;.	.;.;.;.	-0.695142	0.01332	0.073	0.982774921477231	0.39823	0.01833	0.05688	N	AEFBHCI	0.025238	0.01695	N	-0.855745855062781	0.11910	0.5774244	-1.06440168268425	0.08410	0.4133661	2.34430011323553E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.38	-2.27	0.06458	-2.998000	0.00718	-6.480000	0.01387	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2442:0.3875:0.3683	4.850	0.12895	238	0.90711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1909.83	39	chr5	102498660	.	C	T	1909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.249;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.184;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	5	0	1	0
chr5	108381229	108381229	G	T	exonic	FBXL17	.	nonsynonymous SNV	FBXL17:NM_001163315:exon1:c.C463A:p.Q155K	.	306	1213	3	0	0	3	0.00123508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.941164789287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1030256441	1.621e-05	1.847e-05	1.37e-05	1.88e-05	8.605e-05	1.042e-05	8.84e-06	3.685e-05	2.525e-05	0	0	0	0	0	0	1.354e-05	1.875e-05	8.605e-05	1.322e-05	1.313e-05	2.585e-05	0	6.578e-05	2.2e-06	8.2e-07	.	.	0	0	6.578e-05	0	0	0	0	1.479e-05	0	0	0.004	0.65419	D	0.689	0.05939	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	-1.81	0.83970	D	-0.53	0.16393	N	0.119	0.10911	-0.6006	0.64792	T	0.354	0.71696	T	9	0.16950166	0.31561	T	0.941165	0.99584	D	0.230	0.53062	0.239	0.17065	0.305252298933	0.30134	0.36024577220290804	0.35938	0.830763349556	0.67613	0.854892373085	0.90351	D	0.010055	0.09113	T	0.0713953	0.61018	D	-0.135222	0.60529	T	0.267284126425486	0.23630	T	0.535446	0.17943	T	0.24914327	0.47907	0.33460155	0.59284	0.24914327	0.47907	0.33460155	0.59283	-5.388	0.40804	T	.	.	0.106	0.19760	B	.	.	3.046805	0.40863	21.2	0.97545355772446818	0.34539	0.45223	0.27491	N	ALL	0.081886	0.16574	N	-0.449211788850197	0.23767	1.278621	-0.343260723438252	0.26717	1.477616	0.999999950840391	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	2.9	2.0	0.25495	0.127000	0.15617	8.380000	0.77064	0.546000	0.25710	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7239:0.276	6.855	0.23216	873	0.30802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	380.83	47	chr5	108381229	.	G	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.506;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.033;SOR=0.674	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,919	5	0	1	0
chr5	110420591	110420591	C	A	exonic	TMEM232	.	stopgain	TMEM232:NM_001039763:exon14:c.G1963T:p.E655X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs192501577	4.357e-05	4.241e-05	4.516e-05	4.192e-05	0.0017	3.404e-05	3.109e-05	0.0013	0.0012	0.0017	6.076e-05	0	0	0	0.0006	1.899e-06	0.0001	0	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0003	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0586486	0.59444	T	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.047791	0.94431	34	0.96965392429409991	0.31795	0.06871	0.12896	N	AEFI	0.095167	0.19232	N	0.286411964747642	0.55457	3.709966	-0.0761586613948636	0.36379	2.116315	6.9517037503467E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.41	0.38145	0.408000	0.20787	0.167000	0.15474	0.531000	0.24825	0.007000	0.17678	0.000000	0.08366	0.008000	0.08271	0.0:0.6255:0.3745:0.0	10.791	0.45633	693	0.58582	.	.	.	.	.	.	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	0.004399	0.006494	0.000000	0.009524	0.000000	0.000000	0.000000	0.000000	0.08333	603.83	34	chr5	110420591	.	C	A	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.866;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.779;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	5	0	1	0
chr5	110420660	110420660	C	G	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon14:c.G1894C:p.E632Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0153118387273	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs182807123	4.513e-05	4.309e-05	4.884e-05	4.131e-05	0.0015	3.592e-05	3.261e-05	0.0012	0.0011	0.0015	5.944e-05	0	0	0	0.0005	1.859e-06	0.0001	0	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0003	0	0	0	0	0	0.0005	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.975	0.24501	L	.	.	.	-1.29	0.32387	N	0.144	0.14480	-0.6844	0.61169	T	0.270	0.64151	T	7	0.07198173	0.10683	T	0.015312	0.35967	T	0.235	0.53788	.	.	0.0551355673512	0.04727	0.04678549214909194	0.04621	.	.	0.4481793046	0.31695	T	0.003748	0.03161	T	-0.322181	0.06721	T	-0.2761	0.47202	T	0.114788484948717	0.13913	T	0.593841	0.21938	T	0.14854588	0.33909	0.14832129	0.35065	0.14854588	0.33908	0.14832129	0.35064	-4.861	0.35294	T	.	.	0.192	0.41094	B	.	.	2.653237	0.34548	19.66	0.99723066720211961	0.82195	0.88181	0.47996	D	AEFI	0.411986	0.48224	N	0.340966321350854	0.58265	3.99768	0.300252242906117	0.55555	3.718425	0.237085411986417	0.18530	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	2.353000	0.43744	2.564000	0.33329	0.549000	0.26987	0.955000	0.33325	0.991000	0.31484	0.272000	0.23818	0.0:1.0:0.0:0.0	15.499	0.75414	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	0.002793	0.000000	0.000000	0.009346	0.000000	0.000000	0.000000	0.000000	0.08333	896.83	34	chr5	110420660	.	C	G	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.707;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.45;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	5	0	1	0
chr5	110739163	110739163	G	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon1:c.G44A:p.R15Q,SLC25A46:NM_138773:exon1:c.G44A:p.R15Q	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	YES	520552	Neuropathy,_hereditary_motor_and_sensory,_type_6B|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.512	0.669024271648	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs372382932	4.006e-05	3.899e-05	3.389e-05	4.641e-05	0.0002	3.164e-05	2.844e-05	3.445e-05	3.046e-05	0	0	0	0	0	0.0002	4.449e-05	1.726e-05	7.574e-05	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0003	1.715e-05	1.129e-05	8.873e-05	5.283e-05	2.412e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.703	0.54270	P	0.000054	0.53742	D	0.121669	0.999375	0.81001	D	2.32	0.66415	M	-2.07	0.86722	D	-0.95	0.25332	N	0.544	0.57433	0.385	0.88875	D	0.655	0.88012	D	10	0.65353465	0.69741	D	0.669024	0.97235	D	0.512	0.79094	.	.	0.74894119478	0.74667	0.6153829533266867	0.61470	0.0759007958584	0.08520	0.865649163723	0.91941	D	0.020416	0.16081	T	0.0210351	0.54521	T	-0.0210237	0.68961	D	0.649829745292664	0.38455	D	0.871313	0.57716	D	0.53494847	0.69112	0.6057321	0.77080	0.53494847	0.69113	0.6057321	0.77081	-4.307	0.28274	T	.	.	0.432	0.61306	A	.;.	.;.	4.524098	0.70963	25.6	0.99885608978975193	0.96049	0.81999	0.41297	D	ALL	0.674978	0.64052	D	0.530777707798563	0.68919	5.28398	0.501537179087623	0.68096	5.172866	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.88	3.97	0.45241	6.260000	0.72463	7.115000	0.57578	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.8367:0.1633	12.95	0.57792	884	0.28482	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	589.83	36	chr5	110739163	.	G	A	589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=174;ExcessHet=0;FS=4.386;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.22;SOR=1.428	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,862	5	0	1	0
chr5	112165054	112165054	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_022140:exon23:c.C1997T:p.A666V	.	.	.	.	.	.	.	.	.	.	.	698722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0030	0.00539137	0.0010	0.0107	0.0007	0	0	3.001e-05	0	6.058e-05	0.0009961	154	154602	rs1551935	0.0003	0.0003	0.0004	0.0003	0.0105	0.0003	0.0003	0.0096	0.0092	0.0105	0.0012	0	0	1.872e-05	0.0007	2.878e-05	0.0010	6.957e-05	0.0030	0.0030	0.0029	0.0031	0.0104	0.0028	0.0027	0.0096	0.0093	0.0104	0	0.0014	0	0.0002	0	0	4.411e-05	0.0009	0	0.164	0.23360	T	0.229	0.25210	T	0.308	0.32740	B	0.043	0.24256	B	0.005113	0.33089	U	0.121379	0.600631	0.30943	N	0.55	0.14455	N	-1.63	0.82440	D	-0.16	0.09460	N	0.055	0.03069	-0.7710	0.56803	T	0.165	0.50291	T	10	0.0050605834	0.00109	T	.	.	.	0.203	0.48915	.	.	0.659250127719	0.65639	0.3389945321556822	0.33812	0.041598538369	0.04473	0.331317812204	0.15133	T	0.006273	0.05707	T	-0.470628	0.00842	T	-0.44084	0.28714	T	0.0105749154119011	0.00147	T	0.657934	0.26722	T	0.028262842	0.02137	0.05698734	0.10279	0.03210222	0.03173	0.053875342	0.09157	-3.763	0.20253	T	.	.	0.077	0.07272	B	.;.	.;.	2.720073	0.35575	19.93	0.95932287934865446	0.28219	0.72675	0.35564	D	AEFDBHCI	0.120425	0.23460	N	-0.532537978473159	0.21034	1.113353	-0.403376051817614	0.24897	1.366036	0.999995942141423	0.74766	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.31	2.11	0.26299	1.925000	0.39705	5.428000	0.48585	-0.117000	0.14459	0.998000	0.41325	1.000000	0.68203	0.585000	0.31016	0.1929:0.0:0.5476:0.2595	4.185	0.09854	264	0.89640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	542.83	33	chr5	112165054	.	G	A	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.032;DP=245;ExcessHet=0;FS=3.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.303;SOR=0.745	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1141	5	0	1	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011078	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.08333	1139.83	35	chr5	119133212	.	A	C	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.423;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.741;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	5	0	1	0
chr5	120686311	120686311	T	C	exonic	PRR16	.	nonsynonymous SNV	PRR16:NM_001300783:exon2:c.T517C:p.C173R,PRR16:NM_001308087:exon2:c.T307C:p.C103R,PRR16:NM_016644:exon3:c.T448C:p.C150R,PRR16:NM_001308088:exon4:c.T307C:p.C103R	.	427	1062	29	4	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00279553	0.0061	0.0012	0.0012	0	0.0033	0.0072	0.0044	0.0124	0.0061772	955	154602	rs140122947	0.0070	0.0070	0.0067	0.0073	0.0120	0.0069	0.0068	0.0114	0.0111	0.0012	0.0021	0.0005	0	0.0034	0.0085	0.0076	0.0058	0.0120	0.0046	0.0046	0.0045	0.0048	0.0143	0.0044	0.0042	0.0116	0.0106	0.0011	0.0121	0.0017	0	0	0.0033	0	0.0076	0.0019	0.0143	0.112	0.72154	T	0.1	0.62352	T	0.226	0.51395	B	0.176	0.46637	B	0.001764	0.38052	N	0.299816	0.999936	0.51612	D	.	.	.	1.0	0.41392	T	-1.92	0.98623	N	0.622	0.74462	-1.0460	0.15534	T	0.081	0.32031	T	9	0.0052689016	0.00115	T	.	.	.	0.128	0.35103	.	.	0.151262610727	0.14761	0.36927414502325967	0.36841	0.18308332438	0.20593	0.5204205513	0.41685	T	0.01708	0.13999	T	-0.393105	0.02568	T	-0.325768	0.41940	T	0.0148276194393841	0.00312	T	0.70113	0.32527	T	0.40580052	0.61133	0.38640827	0.63534	0.3717633	0.58715	0.38640827	0.63533	-2.095	0.03562	T	.	.	0.162	0.45954	B	.;.;.;.;.	.;.;.;.;.	3.443358	0.47909	22.5	0.98893923286780816	0.48055	0.98157	0.80093	D	AEFBI	0.779133	0.71143	D	0.214393683978546	0.51896	3.367477	0.30526535416505	0.55848	3.747679	0.999683871102299	0.41756	0.638212	0.43195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	3.413000	0.52440	1.197000	0.24809	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1627:0.8373	10.498	0.43978	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.002717	0.002924	0.000000	0.025862	0.009146	0.034091	0.08333	2287.83	37	chr5	120686311	.	T	C	2287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.03;DP=389;ExcessHet=0;FS=9.531;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.337;SOR=0.569	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr5	121852467	121852467	G	C	exonic	FTMT	.	nonsynonymous SNV	FTMT:NM_177478:exon1:c.G504C:p.K168N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.026800048425	.	0.000199681	0.0001	0	0	0	0	0	0.0011	0.0008	9.7e-05	15	154602	rs568437715	3.762e-05	3.762e-05	1.225e-05	6.325e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0006	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.995	0.67487	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.99981	0.49394	D	3.52	0.92970	H	-0.66	0.72348	T	-4.44	0.77637	D	0.749	0.74826	-0.2322	0.76829	T	0.488	0.80535	T	10	0.6368638	0.68831	D	0.027	0.49675	D	0.376	0.69443	0.635	0.77142	0.838530319807	0.83698	0.7169558175363272	0.71638	0.744139049839	0.63423	0.550722956657	0.45959	T	0.728204	0.92372	D	-0.233166	0.16233	T	-0.223272	0.52421	T	0.958125233650208	0.65187	D	0.908709	0.67605	D	0.9406303	0.95311	0.75918907	0.85771	0.9406303	0.95312	0.75918907	0.85772	-9.628	0.71653	D	.	.	0.917	0.83961	P	.	.	3.818019	0.55117	23.6	0.99615060252181054	0.75052	0.96388	0.68895	D	AEFDI	0.233538	0.35645	N	0.222665488484597	0.52300	3.404941	-0.0101376230133818	0.39255	2.324821	4.25303447376215E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	3.36	-0.048	0.13170	2.067000	0.41087	2.347000	0.32290	0.676000	0.76740	1.000000	0.71638	0.993000	0.31925	0.990000	0.65344	0.2388:0.1715:0.5896:0.0	5.037	0.13781	904	0.23766	Ferritin/DPS protein domain|Ferritin-like diiron 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	.	.	.	.	.	.	.	.	0.08333	1301.83	40	chr5	121852467	.	G	C	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=300;ExcessHet=0;FS=3.565;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-1.245;SOR=1.044	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr5	122818919	122818919	G	A	exonic	SNX2	.	nonsynonymous SNV	SNX2:NM_001278199:exon11:c.G757A:p.V253I,SNX2:NM_003100:exon11:c.G1108A:p.V370I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0312249071417	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375160918	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	3.597e-06	0	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.048	0.40068	D	0.178	0.29639	T	0.645	0.40526	P	0.643	0.52216	P	0.000001	0.62929	D	0.056210	1	0.81001	D	1.765	0.45800	L	1.26	0.36330	T	-0.7	0.20145	N	0.547	0.57860	-0.8532	0.51746	T	0.182	0.53011	T	10	0.47190896	0.59913	T	0.031225	0.53360	D	0.265	0.57870	.	.	0.446476282341	0.44268	0.24500452282084878	0.24414	0.476211014082	0.46760	0.765872359276	0.76806	T	0.170082	0.51770	T	-0.102058	0.36082	T	-0.287522	0.46029	T	0.654758421982265	0.38667	D	0.973103	0.90315	D	0.15179546	0.34490	0.18057777	0.40866	0.15179546	0.34490	0.18057777	0.40865	-8.435	0.63997	D	.	.	0.359	0.57174	A	.;.	.;.	4.279383	0.65178	24.8	0.9985373456241361	0.93279	0.99200	0.92708	D	AEFBI	0.896207	0.83704	D	0.692541340416775	0.79144	7.016001	0.755742460802549	0.86584	8.936746	0.999999999955056	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	10.003000	0.99689	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.825	0.96608	587	0.69154	Sorting nexin Vps5-like, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	511.83	36	chr5	122818919	.	G	A	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.974;DP=232;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.553;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	5	0	1	0
chr5	126552104	126552104	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001202404:exon12:c.A1042G:p.T348A,ALDH7A1:NM_001182:exon14:c.A1234G:p.T412A,ALDH7A1:NM_001201377:exon14:c.A1150G:p.T384A	Epilepsy, pyridoxine-dependent, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	YES	133794	not_specified|Inborn_genetic_diseases|Pyridoxine-dependent_epilepsy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.589	.	0.0004	0.0163738	0.0067	0.0004	0.0004	0.0832	0.0006	0.0009	0.0033	0.0013	0.0062354	964	154602	rs2306618	0.0023	0.0024	0.0024	0.0023	0.0645	0.0023	0.0023	0.0624	0.0616	0.0002	0.0002	0.0118	0.0645	0.0002	0	0.0001	0.0045	0.0013	0.0033	0.0033	0.0029	0.0037	0.0773	0.0031	0.0030	0.0711	0.0686	0.0006	0	0.0002	0.0118	0.0773	0	0	0.0002	0.0009	0.0050	0.59	0.05808	T	0.897	0.06090	T	0.281	0.32101	B	0.184	0.35999	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	-1.54	0.81640	D	-4.86	0.81187	D	0.481	0.54409	-0.6508	0.62679	T	0.085	0.33043	T	10	0.005655259	0.00125	T	.	.	.	0.589	0.83582	.	.	0.865300290144	0.86399	0.8630171240334765	0.86265	0.272181185656	0.29729	0.454950153828	0.32620	T	0.160176	0.93346	T	-0.254188	0.13589	T	-0.0778877	0.65058	T	0.102172486695747	0.12595	T	0.893511	0.70203	D	0.70715445	0.78451	0.45207185	0.68124	0.8147498	0.84869	0.4790709	0.69827	-8.342	0.63377	D	.	.	0.098	0.45726	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.186929	0.43288	21.7	0.76749523439415024	0.11594	0.97400	0.74509	D	AEFBI	0.745787	0.68836	D	-0.00244245080552062	0.41744	2.502501	0.058254955904975	0.42473	2.569531	0.881485250916648	0.25632	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	5.051000	0.64074	6.173000	0.54519	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.226000	0.22626	0.0:0.081:0.0:0.919	9.924	0.40647	700	0.57880	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	555.83	41	chr5	126552104	.	T	C	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.481;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.101;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr5	129461644	129461644	G	T	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G634T:p.A212S	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0125008544861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.034e-07	2.744e-06	1.398e-06	0	9.118e-07	0	0	.	.	0	0	0	0	0	0	9.118e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.079755	0.20965	N	0.374327	1	0.08975	N	0.14	0.08730	N	.	.	.	.	.	.	.	.	-0.9276	0.44487	T	0.008	0.02720	T	9	0.08687705	0.14811	T	0.012501	0.31128	T	0.028	0.06331	0.383	0.40134	0.0934897674506	0.08844	0.39047932096020577	0.38962	0.154927396393	0.17493	0.750962376595	0.74589	T	0.003798	0.03212	T	-0.287672	0.09871	T	-0.650998	0.08885	T	0.0606695876405981	0.07274	T	0.466753	0.13720	T	0.07335072	0.16383	0.084429204	0.19421	0.07335072	0.16383	0.084429204	0.19421	-3.785	0.20581	T	.	.	0.077	0.06295	B	.;.	.;.	1.404487	0.18190	13.60	0.95283363298330792	0.26580	0.13608	0.17952	N	AEFDBHCI	0.083997	0.17021	N	-0.811300195711665	0.13020	0.6386113	-0.743729426909182	0.15876	0.8371752	0.999999999952218	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	3.96	3.04	0.34171	1.192000	0.31759	2.377000	0.32464	0.618000	0.50648	0.003000	0.16062	0.413000	0.24769	0.983000	0.59808	0.0925:0.1605:0.5818:0.1652	4.074	0.09374	721	0.55360	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	894.83	37	chr5	129461644	.	G	T	894.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.127;DP=233;ExcessHet=0;FS=2.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.702;SOR=0.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	5	0	1	0
chr5	130184400	130184400	C	T	exonic	CHSY3	.	nonsynonymous SNV	CHSY3:NM_175856:exon3:c.C1258T:p.R420C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0284427701124	0.0002	.	2.479e-05	0.0002	0	0	0	1.503e-05	0	0	1.94e-05	3	154602	rs367575486	1.163e-05	1.163e-05	1.362e-05	9.629e-06	0.0001	7.09e-06	5.79e-06	3.984e-05	2.374e-05	0.0001	2.237e-05	0	0	0	0	8.997e-06	0	2.319e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	7.242e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.959	0.70163	D	0.000020	0.62929	D	0.000000	1	0.81001	D	2.695	0.78878	M	2.3	0.16953	T	-4.95	0.81910	D	0.774	0.77132	-0.9836	0.34164	T	0.125	0.43028	T	9	0.76117265	0.76357	D	0.028443	0.51122	D	0.321	0.64318	.	.	0.685252170855	0.68256	0.70672212115354	0.70614	0.562084491644	0.52702	0.734488487244	0.72163	T	0.217728	0.58025	T	-0.0195201	0.48922	T	0.0401609	0.72938	D	0.969836413860321	0.68732	D	0.987968	0.95938	D	0.62483364	0.74022	0.54765695	0.73850	0.62483364	0.74023	0.54765695	0.73850	-12.753	0.88320	D	.	.	0.188	0.40570	B	.	.	5.253267	0.88202	29.5	0.9992393437618613	0.98917	0.94083	0.60061	D	AEFBI	0.720159	0.67081	D	0.660330278204748	0.77039	6.598564	0.607537432621474	0.75486	6.319086	0.592473358051395	0.21658	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.5	4.5	0.54382	3.913000	0.56106	5.961000	0.51824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.512	0.90870	506	0.75555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1069.83	34	chr5	130184400	.	C	T	1069.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=250;ExcessHet=0;FS=1.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.11;SOR=0.954	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1205	5	0	1	0
chr5	132331810	132331810	C	T	exonic	SLC22A4	.	nonsynonymous SNV	SLC22A4:NM_003059:exon6:c.C1006T:p.R336W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0157627003353	.	0.000199681	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.94e-05	3	154602	rs76343123	4.106e-06	4.104e-06	1.362e-06	6.877e-06	4.472e-05	1.48e-06	9.7e-07	7.41e-06	2.77e-06	0	4.472e-05	3.827e-05	0	0	0	8.996e-07	0	2.319e-05	1.314e-05	1.313e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0.0002	0	0	0	0	0	0.222	0.18823	T	0.224	0.25591	T	0.008	0.14655	B	0.013	0.16460	B	0.824339	0.06902	N	1.079370	0.999999	0.08975	N	1.565	0.39561	L	0.05	0.61923	T	-2.78	0.58896	D	0.15	0.15328	-0.9979	0.30507	T	0.161	0.49565	T	10	0.051735163	0.05099	T	0.015763	0.36670	T	0.101	0.28911	.	.	0.505765104075	0.50213	0.337021377024676	0.33615	0.24306292398	0.26809	0.182675361633	0.00121	T	0.242633	0.61141	T	-0.317792	0.07079	T	-0.518416	0.20456	T	0.0659653916954994	0.08072	T	0.152485	0.01303	T	0.15987031	0.35889	0.12082873	0.29156	0.15987031	0.35889	0.12082873	0.29155	-6.112	0.47207	T	.	.	0.120	0.24700	B	.	.	0.611053	0.09797	6.560	0.42904691606559392	0.03194	0.04068	0.09521	N	AEFBI	0.108384	0.21563	N	-1.62547350296698	0.01143	0.04964798	-1.68105996328787	0.01223	0.05510952	0.898710015571999	0.26033	0.651	0.46895	0	0.573888	0.26702	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.86	-2.87	0.05359	-0.190000	0.09612	-0.822000	0.07291	-1.088000	0.01543	0.018000	0.19461	0.000000	0.08366	0.017000	0.10941	0.1845:0.4307:0.1786:0.2062	2.155	0.03577	452	0.79239	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.08333	658.83	35	chr5	132331810	.	C	T	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.529;DP=252;ExcessHet=0;FS=1.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.417;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	5	0	1	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L	Nijmegen breakage syndrome-like disorder	9	1496	15	2	0	19	0.0063102	.	.	YES	133469	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified|Nijmegen_breakage_syndrome-like_disorder|not_provided	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006552	0.005102	0.001359	0.023392	0.000000	0.008621	0.003049	0.000000	0.08333	422.83	34	chr5	132575843	.	A	C	422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.122;SOR=0.538	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	5	0	1	0
chr5	132823884	132823884	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.G1777A:p.A593T,SHROOM1:NM_001172700:exon7:c.G1777A:p.A593T	.	421	1095	6	0	0	6	0.00273224	.	.	.	698775	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0101636520806	0.0051	0.00339457	0.0058	0.0013	0.0012	0	0.0098	0.0084	0.0039	0.0007	0.0052005	804	154602	rs144919403	0.0069	0.0068	0.0071	0.0068	0.0080	0.0068	0.0068	0.0078	0.0078	0.0011	0.0017	0.0011	0	0.0103	0.0004	0.0080	0.0058	0.0012	0.0049	0.0050	0.0051	0.0048	0.0079	0.0047	0.0045	0.0073	0.0071	0.0014	0.0022	0.0023	0.0006	0	0.0101	0	0.0079	0.0024	0.0025	0.28	0.15509	T	0.065	0.47097	T	0.229	0.30546	B	0.153	0.34292	B	0.832774	0.09093	N	0.912724	0.996853	0.22879	N	1.33	0.33268	L	1.49	0.31470	T	0.11	0.08495	N	0.125	0.19325	-0.9799	0.35025	T	0.046	0.19640	T	10	0.0046468377	0.00097	T	0.010164	0.26368	T	0.040	0.10527	.	.	0.328486982098	0.32448	0.20545923466704794	0.20462	0.0323555157115	0.03379	0.358799874783	0.19210	T	0.014986	0.12654	T	-0.614697	0.00119	T	-0.648355	0.09069	T	0.0120771322648374	0.00191	T	0.612239	0.23293	T	0.03552469	0.04196	0.04293744	0.05227	0.03552469	0.04196	0.04293744	0.05227	-4.957	0.36370	T	.	.	0.084	0.14979	B	.;.;.;.	.;.;.;.	1.343556	0.17504	13.20	0.99133206960837394	0.53329	0.21053	0.21264	N	AEFDBCI	0.097129	0.19596	N	-0.620076997169917	0.18342	0.951481	-0.612563704858537	0.19170	1.027357	0.999945822850924	0.47345	0.646311	0.45356	0	0.627178	0.54094	0	0.619478	0.44681	0	0.699875	0.68795	0	.	.	4.89	0.873	0.18254	0.175000	0.16577	-0.751000	0.07577	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.890000	0.42831	0.1587:0.5713:0.0:0.27	4.283	0.10288	908	0.22609	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2;.;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1721.83	95	chr5	132823884	.	C	T	1721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.266;DP=449;ExcessHet=0;FS=4.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.018;SOR=0.377	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	5	0	1	0
chr5	133199528	133199528	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon16:c.G2096A:p.R699H	.	433	1084	5	0	0	5	0.00230097	.	.	.	3261429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0199273292012	.	0.000199681	4.947e-05	0	8.642e-05	0	0	2.999e-05	0	0.0002	5.82e-05	9	154602	rs149501035	7.936e-05	7.935e-05	8.032e-05	7.839e-05	0.0005	6.734e-05	6.267e-05	0.0003	0.0002	2.987e-05	6.708e-05	0	0	1.872e-05	0.0005	5.666e-05	0.0002	0.0004	9.191e-05	9.186e-05	8.991e-05	9.4e-05	0.0001	5.523e-05	4.361e-05	7.909e-05	5.994e-05	7.217e-05	0	6.533e-05	0	0	0	0	0.0001	0	0	0.464	0.08634	T	0.85	0.04652	T	0.137	0.27402	B	0.028	0.21332	B	0.000012	0.62929	D	0.115488	0.999443	0.47080	D	1.685	0.43254	L	1.43	0.32958	T	-1.2	0.30555	N	0.152	0.17002	-1.0880	0.05873	T	0.044	0.18989	T	10	0.06187427	0.07825	T	0.019927	0.42414	T	0.043	0.11576	0.416	0.45544	0.366868811517	0.36303	0.7556647769961369	0.75513	0.334390914649	0.35456	0.373634874821	0.21352	T	0.169895	0.51745	T	-0.46528	0.00911	T	-0.609927	0.11990	T	0.0661987488345847	0.08108	T	0.833717	0.50261	T	0.040914547	0.05928	0.046751928	0.06584	0.040914547	0.05928	0.046751928	0.06583	-8.958	0.67426	D	.	.	0.088	0.24599	B	.;.	.;.	2.612258	0.33929	19.48	0.93342916342424265	0.23073	0.87335	0.46843	D	AEFDBI	0.288172	0.40013	N	-0.330894441765914	0.27980	1.539561	-0.23577858084838	0.30265	1.702529	0.694834552877013	0.22629	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.74	2.55	0.29757	3.840000	0.55547	1.789000	0.28782	-0.249000	0.07183	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.727:0.0:0.273	9.001	0.35245	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1578.83	37	chr5	133199528	.	C	T	1578.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=283;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.103;SOR=0.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	5	0	1	0
chr5	133980948	133980948	T	C	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon6:c.A332G:p.N111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00258831308093	.	.	8.27e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs766920098	1.371e-06	1.369e-06	2.729e-06	0	2.992e-05	2.3e-07	9e-08	.	.	2.992e-05	0	0	2.521e-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	0.000002	0.62929	D	0.135513	0.99997	0.53665	D	-0.615	0.02190	N	1.1	0.39050	T	1.62	0.00637	N	0.087	0.06454	-1.0458	0.15592	T	0.042	0.17994	T	10	0.06088668	0.07549	T	0.002588	0.05235	T	0.074	0.21613	0.304	0.27325	0.0675242888579	0.06100	0.08056874537585877	0.07991	0.482273238325	0.47187	0.614805519581	0.54995	T	0.125378	0.45105	T	-0.423232	0.01632	T	-0.676591	0.07193	T	0.0467978306114674	0.04929	T	0.874313	0.58483	D	0.0836645	0.19330	0.046968322	0.06662	0.0836645	0.19329	0.046968322	0.06661	-4.476	0.30573	T	.	.	0.060	0.01075	B	.;.;.;.	.;.;.;.	2.386554	0.30640	18.50	0.33812217019766699	0.02034	0.85919	0.45109	D	AEFBI	0.322581	0.42503	N	-0.399755358985018	0.25478	1.383351	-0.141197528238839	0.33748	1.933792	0.999999881982768	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	3.007000	0.49223	5.014000	0.46692	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.1196:0.0:0.8804	8.256	0.30917	182	0.92924	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	840.83	34	chr5	133980948	.	T	C	840.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.494;DP=229;ExcessHet=0;FS=2.635;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=0.7;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	5	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S,SEC24A:NM_021982:exon9:c.C1384T:p.P462S	.	447	1072	3	0	0	3	0.0013973	.	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	967.83	71	chr5	134682375	.	C	T	967.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.009;DP=243;ExcessHet=0;FS=2.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.474;SOR=0.444	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1359	5	0	1	0
chr5	134723571	134723571	A	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_021982:exon22:c.A3068G:p.D1023G	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00746623690938	0.0005	.	0.0006	0.0002	0.0016	0	0	0.0007	0.0022	0.0004	0.0006404	99	154602	rs201973255	0.0006	0.0006	0.0006	0.0006	0.0061	0.0006	0.0006	0.0045	0.0039	0.0007	0.0016	0.0008	2.526e-05	1.873e-05	0.0061	0.0006	0.0010	0.0004	0.0007	0.0007	0.0006	0.0007	0.0016	0.0006	0.0005	0.0011	0.0009	0.0001	0	0.0016	0.0009	0	0.0002	0.0204	0.0008	0.0024	0	0.529	0.07048	T	0.427	0.13832	T	0.0	0.02946	B	0.0	0.01387	B	0.020216	0.27088	N	0.434279	0.609304	0.30874	N	0.205	0.09354	N	0.69	0.51714	T	-2.96	0.61722	D	0.171	0.18239	-1.0910	0.05367	T	0.073	0.29610	T	10	0.0285514	0.00986	T	0.007466	0.19819	T	0.076	0.22200	.	.	0.647120189699	0.64419	0.39957650763977054	0.39872	0.131509701169	0.14829	0.313902020454	0.12497	T	0.064658	0.32490	T	-0.484748	0.00695	T	-0.493711	0.23001	T	0.0374169316064053	0.03229	T	0.267173	0.04416	T	0.2732578	0.50394	0.13915645	0.33212	0.2732578	0.50394	0.13915645	0.33211	-5.864	0.45127	T	.	.	0.106	0.19800	B	.	.	2.810180	0.36988	20.4	0.88853576514188559	0.18309	0.96967	0.71926	D	AEFBI	0.563984	0.57095	D	-0.288479344159725	0.29593	1.642421	-0.0719228160774764	0.36557	2.128936	0.971252426262951	0.29272	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.66	4.5	0.54382	4.713000	0.61585	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.931:0.0:0.069:0.0	11.786	0.51314	643	0.63827	Gelsolin-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	0.010070	0.040404	0.010870	0.002924	0.000000	0.008621	0.009146	0.000000	0.08333	456.83	35	chr5	134723571	.	A	G	456.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.328;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.373;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	5	0	1	0
chr5	135008023	135008023	C	T	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon4:c.C559T:p.L187F	.	.	.	.	.	.	.	.	.	.	.	2286555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0863270661375	.	.	2.473e-05	0	0	0	0	3.001e-05	0	6.056e-05	1.94e-05	3	154602	rs753293924	1.847e-05	1.847e-05	1.634e-05	2.063e-05	2.236e-05	1.265e-05	1.084e-05	1.175e-05	9.55e-06	0	2.236e-05	0	0	3.744e-05	0	1.799e-05	4.967e-05	1.159e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.11	0.29158	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000452	0.44317	D	0.000000	0.870148	0.35547	D	1.545	0.39105	L	-5.07	0.98648	D	-1.94	0.45042	N	0.575	0.59732	1.045	0.98012	D	0.939	0.98003	D	9	0.82146454	0.81349	D	0.086327	0.74714	D	0.611	0.84773	0.67	0.80803	0.955733713596	0.95526	0.7729936959233854	0.77249	0.525726381439	0.50218	0.559997797012	0.47268	T	0.484227	0.81163	T	0.107166	0.65057	D	0.0238173	0.71877	D	0.526333868503571	0.33599	D	0.782822	0.41925	T	0.15862724	0.35678	0.15584928	0.36514	0.15862724	0.35677	0.15584928	0.36513	-2.2	0.04040	T	.	.	0.269	0.50343	B	.	.	3.400380	0.47126	22.4	0.99843620216869244	0.92403	0.62936	0.31934	D	AEFI	0.152848	0.27761	N	0.359591275436926	0.59249	4.102668	0.322177306058753	0.56846	3.848591	0.00632638964302274	0.11188	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	1.119000	0.30872	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.960000	0.51673	0.0:0.8962:0.0:0.1038	9.103	0.35839	791	0.46100	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	5307.06	142	chr5	135008023	.	C	T	5307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.157;DP=778;ExcessHet=0.4139;FS=8.391;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.414;SOR=0.351	GT:AD:DP:GQ:PL	0/1:114,121:235:99:2954,0,2942	4	0	2	0
chr5	135008069	135008069	C	T	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon4:c.C605T:p.P202L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0288933265844	7.7e-05	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.29e-05	2	154602	rs143295660	5.473e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.799e-06	0	5.797e-05	6.569e-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	0.241	0.17643	T	0.047	0.48855	D	0.001	0.07471	B	0.005	0.11217	B	0.040991	0.01885	N	2.028920	1	0.08975	N	0.375	0.12094	N	-4.86	0.98263	D	-1.12	0.28906	N	0.078	0.05287	0.364	0.88557	D	0.807	0.93464	D	9	0.09122592	0.15962	T	0.028893	0.51501	D	0.301	0.62179	.	.	0.388174495139	0.38433	0.6886089555846406	0.68800	0.102169319623	0.11567	0.27179723978	0.06377	T	0.414128	0.76778	T	-0.0707007	0.41214	T	-0.242479	0.50558	T	0.0412327498197556	0.03914	T	0.550545	0.18982	T	0.048110034	0.08333	0.039929517	0.04200	0.048110034	0.08333	0.039929517	0.04200	-1.884	0.02772	T	.	.	0.104	0.18910	B	.	.	0.650490	0.10190	6.930	0.52301427946590417	0.04722	0.03446	0.08587	N	AEFI	0.063221	0.12204	N	-1.24639644257113	0.04347	0.1960334	-1.25540858406923	0.05051	0.2397827	9.28295493737625E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.33	0.13	0.14046	0.393000	0.20543	.	.	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.3057:0.5368:0.0:0.1575	4.709	0.12245	791	0.46100	Ion transport 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	.	.	.	.	.	.	.	.	0.08333	2050.83	142	chr5	135008069	.	C	T	2050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.348;DP=630;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.138;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr5	135852723	135852723	T	G	exonic	SLC25A48	.	nonsynonymous SNV	SLC25A48:NM_001349336:exon4:c.T323G:p.L108R,SLC25A48:NM_145282:exon4:c.T323G:p.L108R,SLC25A48:NM_001349335:exon7:c.T161G:p.L54R,SLC25A48:NM_001349345:exon7:c.T161G:p.L54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.337950056871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.977	0.73820	D	0.005986	0.32354	N	0.243986	0.99968	0.81001	D	3.185	0.88900	M	-1.56	0.81815	D	-4.82	0.80851	D	0.908	0.90932	0.518	0.90800	D	0.695	0.89481	D	10	0.9325839	0.92594	D	0.33795	0.91935	D	0.820	0.94238	0.798	0.91802	0.813806034475	0.81205	0.8337855282016602	0.83337	1.1253508901	0.78435	0.632679462433	0.57526	T	0.485422	0.81233	T	0.372471	0.88221	D	0.297253	0.88071	D	0.987305760383606	0.77827	D	0.868113	0.56980	D	0.8532063	0.87573	0.8169519	0.89343	0.8532063	0.87575	0.8169519	0.89344	-12.191	0.85769	D	.	.	0.304	0.59511	B	.;.;.;.;.;.	.;.;.;.;.;.	4.490417	0.70135	25.5	0.99695695636004744	0.80248	0.95469	0.64845	D	AEFBI	0.688620	0.64956	D	0.483175072449066	0.66107	4.907644	0.401656934528582	0.61669	4.370187	0.0726296138773557	0.15607	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	4.175000	0.58057	6.061000	0.53172	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.0:1.0	14.858	0.69994	757	0.50970	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1346.83	34	chr5	135852723	.	T	G	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=311;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.387;SOR=0.828	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1200	5	0	1	0
chr5	138391908	138391908	A	G	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.A2276G:p.N759S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00774545142773	.	0.000399361	0.0002	0	0	0.0017	0	1.51e-05	0	0.0002	0.0001423	22	154602	rs201353286	0.0001	0.0001	0.0001	0.0001	0.0026	8.783e-05	8.27e-05	0.0022	0.0020	5.976e-05	2.237e-05	0	0.0026	0	0	2.429e-05	8.283e-05	0.0001	9.195e-05	9.188e-05	7.711e-05	0.0001	0.0021	5.525e-05	4.363e-05	0.0012	0.0009	2.407e-05	0	0	0	0.0021	9.423e-05	0	1.47e-05	0	0	0.18	0.21968	T	0.664	0.06427	T	0.01	0.15535	B	0.003	0.08700	B	0.000064	0.52346	N	0.168399	0.997334	0.81001	D	0.46	0.12951	N	0.15	0.60734	T	-0.14	0.09135	N	0.288	0.32591	-0.9939	0.31591	T	0.140	0.45941	T	10	0.010304391	0.00230	T	0.007745	0.20536	T	0.049	0.13647	.	.	0.182106788282	0.17826	0.2866840183537042	0.28581	0.456773643813	0.45333	0.62025141716	0.55765	T	0.010276	0.09295	T	-0.467774	0.00878	T	-0.48008	0.24438	T	0.0357194787840299	0.02932	T	0.936606	0.76191	D	0.08739731	0.20350	0.056149933	0.09982	0.08739731	0.20349	0.056149933	0.09981	-3.651	0.18597	T	.	.	0.091	0.13221	B	.	.	3.141368	0.42488	21.5	0.99627751173120083	0.75837	0.96904	0.71575	D	AEFBIJ	0.470067	0.51618	N	-0.373981408703591	0.26399	1.44049	-0.168792494309204	0.32692	1.86247	0.999997373325997	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	4.09	0.47038	2.387000	0.44043	8.038000	0.76302	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9262:0.0:0.0738:0.0	10.956	0.46571	389	0.83303	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1143.83	34	chr5	138391908	.	A	G	1143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.315;DP=258;ExcessHet=0;FS=1.77;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.863;SOR=0.9	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	5	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	234.78	97	chr5	139887481	.	C	T	234.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.973;DP=517;ExcessHet=0.4139;FS=308.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=2.97;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:80:.:.:0,80,2305:.	3	0	2	1
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	227.21	81	chr5	139887483	.	C	G	227.21	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.262;DP=473;ExcessHet=0.4139;FS=308.668;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.12;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:53:.:.:0,53,2038:.	5	0	1	0
chr5	140042946	140042946	-	GCT	exonic	NRG2	.	nonframeshift insertion	NRG2:NM_001184935:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_004883:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013981:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013982:exon1:c.123_124insAGC:p.S41_E42insS,NRG2:NM_013983:exon1:c.123_124insAGC:p.S41_E42insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0047	.	0.0037	0	0.0067	0	0	0.0080	0	0.0021	0.0003458	9	26028	rs757191013	0.0011	0.0011	0.0011	0.0012	0.0035	0.0011	0.0011	0.0032	0.0030	0.0004	0.0006	0.0134	0.0004	7.187e-05	0.0026	0.0007	0.0021	0.0035	0.0010	0.0011	0.0010	0.0011	0.0027	0.0009	0.0009	0.0016	0.0013	0.0006	0	0.0003	0.0162	0.0004	0.0003	0.0035	0.0008	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	548.79	31	chr5	140042946	.	C	CGCT	548.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.041;DP=192;ExcessHet=0;FS=3.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.494;SOR=0.513	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,719	5	0	1	0
chr5	140669425	140669425	G	A	exonic	WDR55	.	nonsynonymous SNV	WDR55:NM_017706:exon7:c.G923A:p.R308H	.	.	.	.	.	.	.	.	.	.	.	2269315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00975098063372	.	.	2.518e-05	0	8.754e-05	0	0	1.525e-05	0	6.083e-05	1.94e-05	3	154602	rs746022130	1.368e-05	1.368e-05	1.225e-05	1.513e-05	9.275e-05	8.94e-06	7.26e-06	4.579e-05	3.272e-05	0	6.709e-05	0	0	0	0	6.295e-06	3.313e-05	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.16091	T	0.39	0.15506	T	0.002	0.09854	B	0.004	0.10090	B	0.118269	0.19120	N	0.515163	1	0.08975	N	0.82	0.20857	L	0.99	0.41750	T	-0.52	0.16187	N	0.022	0.00372	-1.0436	0.16236	T	0.071	0.28936	T	10	0.032753408	0.01433	T	0.009751	0.25449	T	0.021	0.04004	0.42	0.46200	0.258779203287	0.25495	0.3296305041413219	0.32876	0.324307487703	0.34596	0.200929120183	0.00484	T	0.055209	0.29940	T	-0.431007	0.01462	T	-0.654234	0.08660	T	0.0278864837328215	0.01671	T	0.584142	0.21248	T	0.01466834	0.00103	0.023948522	0.00409	0.01466834	0.00102	0.023948522	0.00408	-7.593	0.58262	D	.	.	0.073	0.04477	B	.	.	1.570033	0.20101	14.59	0.92548064164315713	0.21996	0.15024	0.18706	N	AEFDBHCI	0.085039	0.17238	N	-0.661862125542541	0.17115	0.8779929	-0.612338020751949	0.19176	1.02769	0.997265382276493	0.35436	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.29	-0.319	0.12094	0.668000	0.24808	.	.	-0.161000	0.11593	0.002000	0.15269	0.000000	0.08366	0.987000	0.62547	0.5387:0.128:0.3333:0.0	6.715	0.22486	176	0.93188	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	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1003.83	99	chr5	140669425	.	G	A	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=288;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.014;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr5	140669568	140669568	G	A	exonic	WDR55	.	nonsynonymous SNV	WDR55:NM_017706:exon7:c.G1066A:p.D356N	.	401	1120	1	0	0	1	0.000446229	.	.	.	4102030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00726287240589	.	.	8.39e-06	0	0	0	0	0	0	6.166e-05	3.84e-05	1	26028	rs760262672	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0002	1.265e-05	1.084e-05	8.887e-05	7.054e-05	2.987e-05	0	0	7.557e-05	0	0.0002	5.396e-06	4.967e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.61	0.05468	T	0.311	0.19660	T	0.001	0.07471	B	0.001	0.04355	B	0.508298	0.11872	N	0.751318	0.593035	0.31004	N	0.805	0.20218	L	1.5	0.31205	T	-0.85	0.23156	N	0.043	0.01577	-1.0437	0.16207	T	0.047	0.20116	T	10	0.06682363	0.09221	T	0.007263	0.19253	T	0.060	0.17295	.	.	0.251639045875	0.24756	0.21418877603954578	0.21334	0.255040055445	0.28090	0.486103236675	0.36898	T	0.050045	0.28483	T	-0.517468	0.00455	T	-0.721405	0.04728	T	0.0369624048471451	0.03149	T	0.760924	0.38541	T	0.023323685	0.01063	0.025804022	0.00639	0.023323685	0.01063	0.025804022	0.00639	-4.975	0.36568	T	.	.	0.093	0.14015	B	.	.	2.429089	0.31245	18.68	0.89012863140578058	0.18438	0.85657	0.44813	D	AEFDBHCI	0.328617	0.42922	N	-0.665991802025693	0.16996	0.8708458	-0.541587968401324	0.21030	1.135726	0.999146929811058	0.38563	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	2.75	0.31439	4.246000	0.58536	.	.	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.1379:0.0:0.7352:0.1269	8.226	0.30726	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1417.83	94	chr5	140669568	.	G	A	1417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=285;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.108;SOR=0.774	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr5	140848613	140848613	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G118A:p.E40K,PCDHA9:NM_031857:exon1:c.G118A:p.E40K	.	442	1033	39	8	0	55	0.0259312	.	.	.	3206704	PCDHA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.052	.	.	0.0071885	0.0074	0.0009	0.0061	0.0002	0.0014	0.0089	0.0090	0.0120	0.0013831	36	26028	rs147099629	0.0023	0.0049	0.0021	0.0026	0.0088	0.0023	0.0023	0.0068	0.0061	0.0007	0.0027	0.0133	0.0001	0.0011	0.0088	0.0018	0.0042	0.0063	0.0060	0.0077	0.0066	0.0053	0.0165	0.0056	0.0055	0.0136	0.0125	0.0012	0.0011	0.0078	0.0220	0	0.0011	0.0243	0.0081	0.0082	0.0165	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	-0.23	0.03940	N	1.58	0.29085	T	3.13	0.00124	N	0.075	0.04913	-0.9802	0.34955	T	0.012	0.04510	T	9	0.0044157207	0.00090	T	.	.	.	0.052	0.14661	.	.	0.234412748748	0.23057	0.5052483064863803	0.50446	.	.	.	.	.	0.001452	0.00908	T	-0.333893	0.05823	T	-0.71739	0.04923	T	0.0084557951795491	0.00102	T	0.563244	0.19836	T	0.0642428	0.13609	0.09128216	0.21453	0.0642428	0.13609	0.09128216	0.21452	2.727	0.00027	T	.	.	0.046	0.00059	B	.;.	.;.	1.464343	0.18873	13.97	0.89844929437015786	0.19152	0.02988	0.07843	N	AEFDBCI	0.041598	0.06346	N	-1.19300097945347	0.05105	0.2319599	-1.04312973743705	0.08850	0.4372199	2.36115250011173E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.584449	0.35598	0	.	.	3.73	2.52	0.29514	-0.511000	0.06404	.	.	-0.096000	0.16002	0.000000	0.06391	0.000000	0.08366	0.432000	0.27494	0.5631:0.274:0.1628:0.0	5.411	0.15649	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	573.83	120	chr5	140848613	.	G	A	573.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.38;DP=539;ExcessHet=0;FS=1.997;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=-5.422;QD=4.78;ReadPosRankSum=0.753;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	5	0	1	0
chr5	140848623	140848623	C	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C128A:p.T43N,PCDHA9:NM_031857:exon1:c.C128A:p.T43N	.	443	1034	37	8	0	53	0.0249882	.	.	.	2708536	not_specified|PCDHA9-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	.	0.0007	.	0.0065	0.0007	0.0050	0.0002	0.0012	0.0079	0.0090	0.0106	0.0010373	27	26028	rs186780543	0.0020	0.0040	0.0019	0.0022	0.0078	0.0020	0.0020	0.0059	0.0053	0.0005	0.0023	0.0118	0.0001	0.0010	0.0078	0.0016	0.0037	0.0049	0.0054	0.0076	0.0059	0.0049	0.0155	0.0051	0.0050	0.0126	0.0116	0.0008	0.0011	0.0072	0.0208	0	0.0011	0.0210	0.0074	0.0082	0.0155	0.01	0.57480	D	0.007	0.69154	D	0.02	0.21357	B	0.066	0.27432	B	.	.	.	.	1	0.81001	D	3.795	0.95366	H	0.86	0.46777	T	-4.79	0.80682	D	0.492	0.52563	-0.4510	0.70367	T	0.158	0.49043	T	9	0.010096908	0.00226	T	.	.	.	0.160	0.41473	.	.	0.657190473102	0.65432	0.714719429081555	0.71414	.	.	.	.	.	0.05186	0.28997	T	-0.0681011	0.41629	T	-0.335599	0.40841	T	0.188936567630157	0.19782	T	0.706229	0.32195	T	0.86958146	0.88828	0.8837174	0.93823	0.86958146	0.88830	0.8837174	0.93823	-12.312	0.86338	D	.	.	0.168	0.39865	B	.;.	.;.	3.811784	0.54986	23.6	0.98409677605635093	0.41159	0.70468	0.34603	D	AEFDBCI	0.520398	0.54527	D	-0.0215671095811526	0.40880	2.43543	-0.0540870625360181	0.37315	2.183088	0.999957572808903	0.48110	0.553676	0.25195	0	0.588015	0.36545	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.73	3.73	0.41982	2.076000	0.41172	.	.	0.545000	0.25583	0.003000	0.16062	0.000000	0.08366	0.779000	0.36868	0.0:1.0:0.0:0.0	16.078	0.80787	32	0.98147	Cadherin, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005076	0.000000	0.005510	0.000000	0.000000	0.000000	0.012346	0.007576	0.08333	438.83	120	chr5	140848623	.	C	A	438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=543;ExcessHet=0;FS=2.221;MLEAC=1;MLEAF=0.083;MQ=59.3;MQRankSum=-5.945;QD=3.66;ReadPosRankSum=-1.121;SOR=0.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:130,0:130:99:.:.:0,120,1800:.	5	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.08333	2732.83	44	chr5	140877285	.	G	T	2732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=413;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.249;SOR=0.673	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr5	141122032	141122032	C	-	exonic	PCDHB4	.	frameshift deletion	PCDHB4:NM_018938:exon1:c.34delC:p.Q12Kfs*7	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	1.368e-06	1.365e-06	0	9.01e-07	0	0	.	.	0	0	0	0	0	0	9.01e-07	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	681.79	40	chr5	141122031	.	GC	G	681.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.434;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.308;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,109,1239:.	5	0	1	0
chr5	141122035	141122035	G	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G37A:p.V13M	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0362114283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.012	0.54683	D	0.043	0.49942	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	0.805897	0.34574	D	2.275	0.64647	M	0.7	0.51474	T	-2.5	0.54382	D	0.481	0.51583	-0.5031	0.68538	T	0.224	0.58767	T	9	0.47711188	0.60209	T	0.036211	0.56843	D	0.214	0.50650	0.506	0.60078	0.497613835824	0.49397	0.46641732189019125	0.46560	.	.	0.400044679642	0.25074	T	0.032642	0.22574	T	-0.0602253	0.42873	T	-0.324286	0.42103	T	0.969948709011078	0.68771	D	0.624837	0.24114	T	0.1577232	0.35524	0.23236866	0.48396	0.1577232	0.35524	0.23236866	0.48395	-4.784	0.34404	T	.	.	0.225	0.45690	B	.	.	4.420255	0.68456	25.2	0.9985433000830084	0.93368	0.59533	0.30942	D	AEFDBCI	0.366642	0.45439	N	0.599423034114239	0.73140	5.917528	0.572927260183208	0.73006	5.900326	0.999989647746386	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	1.751000	0.37967	.	.	0.590000	0.31872	0.996000	0.39380	1.000000	0.68203	0.889000	0.42754	0.0:0.0:1.0:0.0	16.834	0.85817	514	0.74853	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	713.83	40	chr5	141122035	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.216;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.562;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,109,1239:.	5	0	1	0
chr5	141122036	141122036	T	A	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.T38A:p.V13E	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.111361618208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.662	0.40950	P	0.141	0.33616	B	.	.	.	.	0.587837	0.32430	D	2.825	0.82220	M	0.7	0.51474	T	-4.55	0.78553	D	0.807	0.80278	-0.5369	0.67281	T	0.167	0.50583	T	9	0.90568715	0.89933	D	0.111362	0.78911	D	0.178	0.44724	0.685	0.82271	0.698982913941	0.69638	0.7094724308434486	0.70889	.	.	0.391356229782	0.23860	T	0.131898	0.46166	T	0.0712143	0.60995	D	-0.135482	0.60507	T	0.960061430931091	0.65703	D	0.478252	0.14398	T	0.7024246	0.78189	0.6492682	0.79483	0.7024246	0.78190	0.6492682	0.79484	-6.562	0.50762	T	.	.	0.333	0.55424	B	.	.	3.855515	0.55878	23.7	0.98678150345799553	0.44568	0.87509	0.47071	D	AEFDBCI	0.146772	0.27031	N	0.137770860471301	0.48232	3.038232	0.109134746190382	0.45015	2.772283	0.943022005891732	0.27549	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.66	3.48	0.38946	1.048000	0.29989	.	.	0.580000	0.29708	0.802000	0.29747	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.312:0.688	10.366	0.43206	514	0.74853	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	713.83	40	chr5	141122036	.	T	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.659;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,109,1239:.	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	Likely benign	0	0	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	0.008457	0.030303	0.002717	0.008197	0.000000	0.000000	0.009146	0.000000	0.08333	50.83	33	chr5	141201261	.	T	C	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.421;DP=824;ExcessHet=0;FS=22.753;MLEAC=1;MLEAF=0.083;MQ=58.66;MQRankSum=-15.27;QD=0.2;ReadPosRankSum=-3.544;SOR=2.155	GT:AD:DP:GQ:PL	0/1:239,21:260:61:61,0,9762	5	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.08333	1142.83	92	chr5	141201807	.	C	A	1142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.991;DP=376;ExcessHet=0;FS=6.614;MLEAC=1;MLEAF=0.083;MQ=59.85;MQRankSum=0.922;QD=11.9;ReadPosRankSum=-0.188;SOR=0.388	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr5	141202101	141202101	C	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2327T:p.A776V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0035910569437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.506	0.10967	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.53	0.13656	N	2.6	0.13204	T	-0.27	0.11366	N	0.031	0.01068	-0.9554	0.40024	T	0.014	0.05753	T	9	0.065282404	0.08785	T	0.003591	0.08216	T	0.033	0.08068	0.336	0.32491	0.26547132957	0.26150	0.056786485591518124	0.05619	0.226704076737	0.25215	0.228944689035	0.01891	T	0.021159	0.16527	T	-0.350549	0.04693	T	-0.741316	0.03835	T	0.0196874444336411	0.00671	T	0.19978	0.02250	T	0.020979611	0.00678	0.032835342	0.02081	0.020979611	0.00678	0.032835342	0.02081	-4.054	0.25201	T	.	.	0.082	0.08948	B	.;.	.;.	-0.196798	0.03105	0.493	0.17743985735225701	0.00530	0.00615	0.02724	N	AEFDI	0.027984	0.02383	N	-1.14031289166643	0.05941	0.2721971	-1.15261695493409	0.06720	0.3244589	0.027062329292893	0.13751	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.29	2.29	0.27658	-2.240000	0.01280	.	.	0.316000	0.19262	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6813:0.0:0.3187	4.287	0.10304	664	0.61548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1478.83	92	chr5	141202101	.	C	T	1478.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.71;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-1.369;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr5	141225482	141225482	C	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.C1977A:p.H659Q	.	99	1419	3	0	1	4	0.00105597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.016289164744	0.0011	0.000399361	0.0009	0.0005	0.0006	0.0001	0.0003	0.0013	0	0.0002	5.82e-05	9	154602	rs142121806	0.0010	0.0010	0.0010	0.0010	0.0032	0.0010	0.0010	0.0019	0.0016	0.0004	0.0006	0.0053	5.04e-05	0.0002	0.0032	0.0011	0.0010	0.0002	0.0009	0.0009	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0009	0.0005	0	0.0006	0.0060	0	9.413e-05	0.0034	0.0011	0.0014	0.0002	0.169	0.22920	T	0.174	0.30045	T	0.104	0.25941	B	0.092	0.30031	B	.	.	.	.	0.920773	0.27298	N	0.73	0.18813	N	0.75	0.50192	T	-5.92	0.88963	D	0.082	0.16864	-0.9877	0.33175	T	0.118	0.41429	T	9	0.014046013	0.00296	T	0.016289	0.37474	T	0.075	0.21907	0.442	0.49811	0.349429436713	0.34558	0.1427720536024847	0.14200	0.26085393997	0.28643	0.577068328857	0.49672	T	0.025853	0.19251	T	-0.469578	0.00855	T	-0.492844	0.23094	T	0.0349679670934078	0.02803	T	0.463654	0.13513	T	0.2131337	0.43683	0.2868609	0.54695	0.2131337	0.43683	0.2868609	0.54695	-10.343	0.76893	D	.	.	0.150	0.36495	B	.;.	.;.	1.479803	0.19053	14.06	0.96793990690442477	0.31124	0.17980	0.20069	N	AEFI	0.111834	0.22127	N	-0.390303019639772	0.25812	1.404082	-0.351166575584386	0.26473	1.462459	1.0724342369506E-4	0.05123	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.83	2.62	0.30337	-1.967000	0.01598	.	.	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.271000	0.23793	0.0:0.7681:0.0:0.2319	8.288	0.31102	688	0.59122	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	0.002818	0.000000	0.002732	0.004274	0.000000	0.017544	0.000000	0.000000	0.08333	1001.83	91	chr5	141225482	.	C	A	1001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.58;MQRankSum=1.07;QD=13.91;ReadPosRankSum=0.22;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530:.	5	0	1	0
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	T	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:141303079_C_T:167,0,2712:141303079	4	0	2	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	G	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:107,0:136:99:0|1:141303079_C_T:167,476,3268:141303079	4	0	2	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	861.73	33	chr5	141303081	.	A	G	861.73	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.225;DP=788;ExcessHet=1.383;FS=172.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.59;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:118,18:136:14:0|1:141303079_C_T:0,14,4472:141303079	2	0	3	1
chr5	141303085	141303085	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G781C:p.G261R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.945	0.119171460993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.05	0.97045	H	-4.47	0.97583	D	-7.81	0.95950	D	0.92	0.92317	1.064	0.98437	D	0.966	0.98903	D	10	0.9785469	0.97736	D	0.119171	0.79941	D	0.945	0.98886	0.826	0.93721	0.991982707548	0.99189	0.6984871802548264	0.69789	0.807526858809	0.66562	0.601562201977	0.53125	T	0.596879	0.87022	D	0.541534	0.95488	D	0.540099	0.95420	D	0.999754726886749	0.98831	D	0.959904	0.84889	D	0.9499764	0.96263	0.94546807	0.98120	0.9499764	0.96263	0.94546807	0.98120	-7.658	0.58715	D	.	.	0.854	0.79970	P	.	.	4.753978	0.76787	26.6	0.99923634956981966	0.98917	0.99259	0.93576	D	AEFDBI	0.837950	0.75552	D	0.9285539849548	0.93086	11.81309	0.779445182361551	0.88330	9.541768	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	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	157.05	33	chr5	141303085	.	C	G	157.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.865;DP=641;ExcessHet=0;FS=191.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.11;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:108,0:126:99:0|1:141303079_C_T:0,324,4511:141303079	5	0	1	0
chr5	141340836	141340836	A	G	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.A1865G:p.H622R,PCDHGA2:NM_032009:exon1:c.A1865G:p.H622R	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0248357121544	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005627	87	154602	rs202222956	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0054	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	9.76e-05	0.0035	0.0030	2.428e-05	0	0	0	0	0	0	0	0	0.0051	0.202	0.20230	T	0.305	0.20037	T	0.037	0.33132	B	0.072	0.41976	B	0.000535	0.43581	U	0.000000	1	0.81001	D	1.055	0.26876	L	0.77	0.49642	T	-6.96	0.93509	D	0.21	0.26837	-0.9816	0.34632	T	0.116	0.41097	T	10	0.013607442	0.00288	T	0.024836	0.47825	T	0.181	0.45247	0.738	0.87063	0.774417490788	0.77234	0.3913319132458981	0.39048	0.698038861042	0.60942	.	.	.	0.042081	0.26068	T	-0.464882	0.00916	T	-0.43918	0.28900	T	0.101806587813631	0.12554	T	0.760924	0.38541	T	0.44997874	0.64039	0.5485215	0.73899	0.44997874	0.64040	0.5485215	0.73899	-7.53	0.57891	D	.	.	0.203	0.42777	B	.;.	.;.	3.608472	0.51007	23.0	0.83649887336518924	0.14843	0.95747	0.65982	D	AEFBHI	0.427587	0.49147	N	-0.24227206795838	0.31412	1.761131	-0.147496765560598	0.33505	1.917236	0.0164244057109645	0.12830	0.549168	0.22868	0	0.588066	0.40923	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.14	3.97	0.45241	4.496000	0.60081	.	.	0.686000	0.82685	0.999000	0.42656	1.000000	0.68203	0.478000	0.28520	0.9247:0.0:0.0753:0.0	10.916	0.46348	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	.	.	.	.	.	.	.	.	0.08333	1609.83	137	chr5	141340836	.	A	G	1609.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.909;DP=479;ExcessHet=0;FS=0.629;MLEAC=1;MLEAF=0.083;MQ=56.55;MQRankSum=-0.762;QD=11.75;ReadPosRankSum=0.559;SOR=0.636	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	5	0	1	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R,PCDHGA4:NM_032053:exon1:c.C1478G:p.P493R	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	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	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	3382.83	264	chr5	141356585	.	C	G	3382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.663;DP=501;ExcessHet=0;FS=0.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.581;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	5	0	1	0
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.08333	1220.83	33	chr5	141399013	.	G	A	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.434;DP=256;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.642;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	5	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	221.05	214	chr5	141400463	.	A	G	221.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-7.073;DP=825;ExcessHet=0.4139;FS=224.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.18;SOR=7.978	GT:AD:DP:GQ:PL	0/0:173,50:223:52:0,52,3707	4	0	2	0
chr5	141405191	141405191	C	G	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.C2239G:p.R747G,PCDHGA9:NM_032089:exon1:c.C2239G:p.R747G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00755293554058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.981	0.59675	D	0.838	0.60045	P	.	.	.	.	1	0.08975	N	1.195	0.30194	L	0.94	0.43672	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.08160728	0.13379	T	0.007553	0.20033	T	.	.	.	.	0.733364837216	0.73099	0.20954687705575722	0.20870	0.339956898807	0.35944	.	.	.	0.026187	0.19430	T	-0.173644	0.24684	T	-0.487204	0.23684	T	.	.	.	0.613939	0.23413	T	0.16020595	0.35946	0.13587603	0.32522	0.16020595	0.35946	0.13587603	0.32521	-7.489	0.57533	T	.	.	0.119	0.24464	B	.;.	.;.	2.114189	0.26909	17.28	0.67628583049424507	0.08411	0.10204	0.15775	N	AEFBI	0.148575	0.27249	N	.	.	.	.	.	.	0.913604298804113	0.26428	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	5.48	3.64	0.40864	0.544000	0.22960	.	.	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3652:0.5679:0.0:0.0669	9.999	0.41092	809	0.43032	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2055.83	47	chr5	141405191	.	C	G	2055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=441;ExcessHet=0;FS=5.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.15;SOR=1.001	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	5	0	1	0
chr5	141408397	141408397	G	C	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.G195C:p.K65N,PCDHGB6:NM_032100:exon1:c.G195C:p.K65N	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00899266648523	8.2e-05	0.000199681	0.0003	0	0	0.0031	0	3e-05	0.0011	6.056e-05	0.000207	32	154602	rs376067853	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0050	0.0048	0	0	0	0.0056	0	0.0002	1.439e-05	0.0001	3.478e-05	7.874e-05	7.873e-05	5.137e-05	0.0001	0.0023	4.491e-05	3.508e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0	0	0.445	0.09128	T	0.366	0.16668	T	0.058	0.28027	B	0.065	0.35187	B	.	.	.	.	1	0.81001	D	1.02	0.25474	L	1.64	0.27822	T	-1.81	0.42575	N	0.412	0.49146	-1.0062	0.28095	T	0.054	0.22770	T	9	0.012593955	0.00270	T	0.008993	0.23678	T	0.062	0.17934	0.61	0.74300	0.554640639675	0.55122	0.6446117674095414	0.64396	0.57321118132	0.53386	.	.	.	0.005901	0.05345	T	-0.562951	0.00244	T	-0.585094	0.14094	T	0.0265339997588801	0.01479	T	0.510949	0.16331	T	0.06370539	0.13441	0.09538345	0.22620	0.06370539	0.13441	0.09538345	0.22619	-8.197	0.64462	D	.	.	0.339	0.55842	B	.;.	.;.	1.440196	0.18595	13.82	0.9746145993745442	0.34084	0.30328	0.24054	N	AEFDGBI	0.266436	0.38335	N	-0.467370308737467	0.23155	1.241472	-0.378317620900665	0.25645	1.411558	0.999883372122261	0.44867	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	3.16	0.35406	-0.197000	0.09519	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.826000	0.38927	0.2436:0.1249:0.4274:0.2042	1.454	0.02237	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.000000	0.000000	0.003067	0.000000	0.000000	0.000000	0.007576	0.08333	1528.83	42	chr5	141408397	.	G	C	1528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=325;ExcessHet=0;FS=6.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.02;SOR=0.862	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr5	141423488	141423488	A	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.A2261G:p.Y754C,PCDHGA11:NM_032091:exon1:c.A2261G:p.Y754C	.	8	1505	8	1	0	10	0.00331126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0404247355776	0.0013	0.000599042	0.0011	0.0001	0.0007	0	0	0.0016	0.0011	0.0009	0.0010026	155	154602	rs141810253	0.0009	0.0009	0.0008	0.0010	0.0026	0.0009	0.0009	0.0016	0.0013	0.0003	0.0009	0.0050	0	1.874e-05	0.0026	0.0008	0.0015	0.0012	0.0010	0.0010	0.0009	0.0010	0.0013	0.0008	0.0008	0.0011	0.0010	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0013	0.0038	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.981	0.59675	D	0.791	0.57754	P	0.019513	0.27241	U	0.000000	1	0.81001	D	3.76	0.95097	H	0.7	0.51474	T	-8.51	0.97315	D	0.834	0.85766	0.017	0.82604	D	0.367	0.72735	T	10	0.094323754	0.16761	T	0.040425	0.59370	D	0.393	0.70844	.	.	0.851771965924	0.85034	0.3474161531975805	0.34655	1.20556773718	0.80698	.	.	.	0.099095	0.40356	T	-0.0386398	0.46150	T	0.136342	0.79306	D	0.147820850932256	0.16929	T	0.908709	0.67605	D	0.5291894	0.68784	0.6857102	0.81520	0.5291894	0.68785	0.6857102	0.81520	-9.22	0.72285	D	.	.	0.201	0.42491	B	.;.	.;.	4.867989	0.79722	27.2	0.99767028561535975	0.85583	0.95293	0.64160	D	AEFDBI	0.730648	0.67797	D	0.740963173741726	0.82315	7.732451	0.672539657845025	0.80300	7.268168	0.999999836208215	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.2	5.2	0.71720	3.614000	0.53901	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	15.044	0.71480	819	0.41190	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.003788	0.1667	5831.06	34	chr5	141423488	.	A	G	5831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=666;ExcessHet=0.4139;FS=0.518;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.709;SOR=0.745	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2813,0,2585	4	0	2	0
chr5	141431453	141431453	G	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.G694A:p.V232I,PCDHGA12:NM_032094:exon1:c.G694A:p.V232I	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0187671656912	.	0.00159744	0.0013	0	0	0	0	0	0.0011	0.0097	0.0010996	170	154602	rs201704748	0.0006	0.0006	0.0003	0.0008	0.0095	0.0006	0.0005	0.0089	0.0087	0	2.236e-05	0	0	0	0.0005	2.698e-06	0.0006	0.0095	0.0004	0.0004	0.0002	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	6.531e-05	0	0	0	0	0	0	0.0114	0.041	0.41915	D	0.064	0.46182	T	0.949	0.55135	P	0.652	0.61001	P	.	.	.	.	1	0.81001	D	2.11	0.58565	M	0.1	0.61326	T	-0.93	0.24898	N	0.323	0.36884	-0.6125	0.64300	T	0.350	0.71439	T	9	0.008258879	0.00187	T	0.018767	0.40941	T	0.334	0.65620	0.559	0.67821	0.679713862216	0.67699	0.15180183106835163	0.15102	.	.	.	.	.	0.044019	0.26686	T	-0.319656	0.06926	T	-0.223979	0.52353	T	0.196006767305303	0.20193	T	0.888211	0.61727	D	0.07671265	0.17367	0.06906135	0.14504	0.07671265	0.17366	0.06906135	0.14504	-8.42	0.64502	D	.	.	0.137	0.29887	B	.;.	.;.	3.643778	0.51676	23.1	0.99184634471449495	0.54789	0.98844	0.87601	D	AEFDGBHIJ	0.863072	0.78152	D	0.480255808093299	0.65938	4.885892	0.35643325449226	0.58895	4.063198	0.999999999998387	0.74766	0.646311	0.45356	0	0.296712	0.05252	1	0.645312	0.48771	0	0.372554	0.06265	0	.	.	4.89	4.89	0.63387	8.183000	0.89647	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0836:0.0:0.9164:0.0	11.356	0.48852	818	0.41518	.;Cadherin-like|Cadherin conserved site|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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2415.83	212	chr5	141431453	.	G	A	2415.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=474;ExcessHet=0;FS=4.837;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.403;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	5	0	1	0
chr5	141528455	141528455	C	T	exonic	DIAPH1	.	nonsynonymous SNV	DIAPH1:NM_001079812:exon22:c.G3119A:p.R1040Q,DIAPH1:NM_001314007:exon23:c.G3146A:p.R1049Q,DIAPH1:NM_005219:exon23:c.G3146A:p.R1049Q	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.8939	0.722	YES	1998966	Autosomal_dominant_nonsyndromic_hearing_loss_1|Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome	MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635|MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0149706596744	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755247462	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.055	0.47097	T	0.63	0.40197	P	0.038	0.23361	B	0.000001	0.84330	D	0.000000	0.999781	0.51308	D	2.335	0.66956	M	2.36	0.16089	T	-1.87	0.43717	N	0.449	0.50056	-1.1198	0.02344	T	0.039	0.16806	T	10	0.34757835	0.51689	T	0.014971	0.35426	T	0.196	0.47777	0.54	0.65161	0.622101920318	0.61903	0.22114100016214017	0.22029	1.39354771118	0.85045	0.491130888462	0.37595	T	0.19915	0.55634	T	0.138631	0.68194	D	-0.0386431	0.67793	D	0.948454082012177	0.62899	D	0.937406	0.76468	D	0.4605614	0.64706	0.30687708	0.56711	0.4605614	0.64706	0.30687708	0.56710	-14.725	0.95175	D	.	.	0.287	0.55760	B	.;.;.;.;.;.	.;.;.;.;.;.	5.237167	0.87916	29.4	0.99887611714682289	0.96204	0.88100	0.47882	D	AEFDGBCIJ	0.614537	0.60182	D	0.269897620616111	0.54630	3.628066	0.374716073708867	0.60011	4.184082	0.999999999447762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	3.383000	0.52206	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.9202:0.0:0.0798	12.618	0.55944	704	0.57414	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	.	.	.	.	.	.	.	.	0.08333	1277.83	37	chr5	141528455	.	C	T	1277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=1.83;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	5	0	1	0
chr5	142770851	142770851	C	A	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon1:c.C90A:p.D30E,ARHGAP26:NM_015071:exon1:c.C90A:p.D30E	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0126595742037	.	.	8.313e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs769376651	6.85e-07	6.84e-07	0	1.377e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.031	0.20130	B	0.039	0.23607	B	0.000001	0.84330	D	0.052698	0.999753	0.48800	D	0.44	0.12706	N	1.74	0.26301	T	0.66	0.02297	N	0.091	0.06990	-1.0111	0.26573	T	0.021	0.08778	T	10	0.06280911	0.08088	T	0.01266	0.31427	T	0.081	0.23632	0.257	0.19845	0.382940591053	0.37911	0.31117191971497926	0.31030	1.12549069196	0.78439	0.693325102329	0.66183	T	0.084764	0.37350	T	-0.211262	0.19200	T	-0.440609	0.28740	T	0.198714618110869	0.20345	T	0.831917	0.49916	T	0.20455274	0.42568	0.13955624	0.33294	0.20455274	0.42568	0.13955624	0.33293	-3.819	0.21089	T	.	.	0.127	0.27039	B	.;.;.	.;.;.	2.566318	0.33247	19.28	0.9066747695182098	0.19918	0.72003	0.35260	D	ALL	0.208050	0.33417	N	-0.881586154428409	0.11281	0.5435636	-0.651704776311111	0.18174	0.9696775	0.999992696364091	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.61	2.4	0.28568	0.054000	0.14087	1.985000	0.30052	0.598000	0.34611	0.859000	0.30595	1.000000	0.68203	0.997000	0.79791	0.0:0.6261:0.14:0.2339	6.863	0.23258	570	0.70478	GRAF, BAR domain;GRAF, BAR domain;GRAF, BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1232.83	33	chr5	142770851	.	C	A	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.282;DP=295;ExcessHet=0;FS=2.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.243;SOR=0.955	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1072	5	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	49.01	54	chr5	146286009	.	G	C	49.01	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.75;DP=318;ExcessHet=0;FS=127.075;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.152;SOR=7.569	GT:AD:DP:GQ:PL	0/0:46,0:56:99:0,125,762	4	0	1	1
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.08333	399.83	33	chr5	147828053	.	G	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.358;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.265;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	5	0	1	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.1667	1439.06	47	chr5	148095825	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.524;DP=295;ExcessHet=0.4139;FS=1.462;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.533;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,40:65:99:1|0:148095823_A_G:888,0,910:148095823	4	0	2	0
chr5	148827923	148827923	T	G	exonic	ADRB2	.	nonsynonymous SNV	ADRB2:NM_000024:exon1:c.T1092G:p.S364R	Beta-2-adrenoreceptor agonist, reduced response to (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.021067232605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.228	0.25286	T	0.09	0.25173	B	0.015	0.17295	B	0.092812	0.20255	N	0.548503	1	0.08975	N	2.015	0.55033	M	-0.17	0.65563	T	-1.13	0.29114	N	0.138	0.13626	-0.9519	0.40643	T	0.153	0.48239	T	10	0.11876723	0.22460	T	0.021067	0.43780	T	0.089	0.25827	0.238	0.16912	0.546435761033	0.54298	0.4266952136538815	0.42586	0.623133050017	0.56546	0.338880956173	0.16270	T	0.122483	0.44619	T	-0.117682	0.33503	T	-0.406818	0.32592	T	0.44919091463089	0.30767	T	0.649735	0.26051	T	0.057457346	0.11437	0.09083816	0.21325	0.057457346	0.11436	0.09083816	0.21325	-3.669	0.18861	T	.	.	0.133	0.28693	B	.	.	0.923357	0.12983	9.489	0.94280125257512204	0.24574	0.56032	0.30014	D	AEFDBHCIJ	0.244207	0.36535	N	-0.761470134859917	0.14323	0.7125693	-0.788919497241997	0.14766	0.7732987	0.999999935096498	0.74766	0.549168	0.22868	0	0.541556	0.11502	0	0.590023	0.30420	0	0.665054	0.64577	0	.	.	5.83	-3.78	0.04049	-0.108000	0.10827	-0.780000	0.07458	-0.716000	0.03877	0.902000	0.31475	0.010000	0.20010	0.004000	0.06068	0.0:0.5579:0.1174:0.3247	10.583	0.44455	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1018.83	55	chr5	148827923	.	T	G	1018.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=324;ExcessHet=0;FS=0.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.533;SOR=0.829	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1539	5	0	1	0
chr5	149026635	149026635	C	T	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon12:c.G2990A:p.R997Q	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	YES	239775	Inborn_genetic_diseases|not_provided|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4C	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.0285784797279	0.0002	0.000998403	0.0004	0.0003	0.0003	0.0001	0	0.0004	0.0011	0.0004	0.0003299	51	154602	rs140307699	0.0003	0.0003	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	0.0004	0.0010	0.0008	0.0003	0	0.0054	0.0002	0.0006	0.0002	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0004	0.0020	0.0018	0.0003	0	0.0027	0.0006	0	0	0.0034	0.0002	0.0014	0	0.013	0.53900	D	0.03	0.54159	D	0.883	0.48537	P	0.055	0.25995	B	0.000652	0.42656	D	0.178976	0.820365	0.35379	D	1.04	0.26193	L	-1.15	0.77964	T	-1.35	0.33598	N	0.371	0.41261	-0.5933	0.65089	T	0.252	0.62223	T	10	0.022671163	0.00572	T	0.028578	0.51232	D	0.349	0.67049	.	.	0.759444997776	0.75725	0.18556143942894496	0.18474	0.0829618324035	0.09358	0.389659881592	0.23622	T	0.214152	0.57566	T	-0.225929	0.17190	T	-0.197009	0.54930	T	0.0181429474112957	0.00536	T	0.89941	0.64770	D	0.15207776	0.34539	0.1256997	0.30284	0.15207776	0.34539	0.1256997	0.30284	-6.133	0.47379	T	0.3858751087232162	0.47969	0.12	0.24767	B	.;.	.;.	4.318094	0.66070	24.9	0.99708630851619062	0.81143	0.80026	0.39776	D	AEFDBI	0.475873	0.51953	N	0.307016538149563	0.56509	3.815622	0.396890965903832	0.61372	4.336468	0.99998660577659	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.37	4.43	0.52967	2.913000	0.48487	4.760000	0.44710	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8485:0.0:0.1515	10.857	0.46011	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	627.83	33	chr5	149026635	.	C	T	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=238;ExcessHet=0;FS=3.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.83;SOR=1.287	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	5	0	1	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	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	.	.	.	.	.	.	.	.	0.1667	1436.06	34	chr5	149259544	.	A	G	1436.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.439;DP=277;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.148;SOR=0.653	GT:AD:DP:GQ:PL	0/1:42,32:74:99:676,0,1177	4	0	2	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.08333	479.83	38	chr5	149621740	.	G	A	479.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.721;SOR=0.813	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1378	5	0	1	0
chr5	149944307	149944307	C	A	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G367T:p.D123Y	Retinitis pigmentosa 43	0	1502	20	0	0	20	0.00661376	.	.	.	238028	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_43	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|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.428	0.0384823695614	.	0.000399361	0.0003	9.61e-05	0.0010	0	0	0.0003	0	0.0004	0.000304	47	154602	rs147010346	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0072	0.0065	0.0003	0.0011	3.826e-05	0	0	0.0092	0.0002	0.0008	0.0005	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	0.0003	0	0.0021	0	0	0	0.0171	0.0004	0.0005	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.905	0.64260	P	0.005353	0.32875	N	0.341323	0.99998	0.54805	D	2.755	0.80505	M	-0.53	0.70833	T	-5.47	0.85617	D	0.302	0.36464	0.090	0.83996	D	0.531	0.82617	D	10	0.07871464	0.12577	T	0.038482	0.58251	D	0.428	0.73517	.	.	0.873578027535	0.87234	0.43824783086239205	0.43741	0.443632335628	0.44285	0.373303502798	0.21304	T	0.455042	0.91789	T	-0.240516	0.15281	T	-0.18164	0.56371	T	0.152171716094017	0.17275	T	0.960104	0.86967	D	0.634843	0.74556	0.68225837	0.81324	0.634843	0.74558	0.68225837	0.81325	-13.024	0.89463	D	0.3781966217158987	0.47293	0.206	0.56831	B	.;.;.	.;.;.	4.741668	0.76480	26.5	0.99443457286554204	0.64870	0.99626	0.98117	D	AEFBI	0.851479	0.76835	D	0.730837082461304	0.81654	7.573161	0.692550730819629	0.81814	7.615195	0.999999999999874	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	6.102000	0.71139	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:1.0:0.0:0.0	17.026	0.86320	685	0.59416	.;GAF domain|GAF 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	0.005035	0.000000	0.008152	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1878.83	120	chr5	149944307	.	C	A	1878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.667;DP=345;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.39;SOR=0.818	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	5	0	1	0
chr5	149944375	149944375	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G299A:p.R100Q	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	298113	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|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	.	.	.	.	.	.	.	.	0.620	0.0613741473385	7.7e-05	0.000599042	0.0005	9.612e-05	8.639e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199738915	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	6.709e-05	3.826e-05	2.519e-05	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	4.816e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0.0005	0.0037	0.052	0.39097	T	0.049	0.48336	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.355	0.67662	M	-0.41	0.69413	T	-3.22	0.64939	D	0.896	0.89577	-0.1886	0.77963	T	0.460	0.79066	T	10	0.096933514	0.17421	T	0.061374	0.68310	D	0.620	0.85249	.	.	0.919440382184	0.91862	0.3172496280650157	0.31637	0.530887566626	0.50614	0.45652359724	0.32834	T	0.29179	0.85714	T	-0.0983919	0.36693	T	0.0825257	0.75747	D	0.162289581350882	0.18039	T	0.990041	0.96927	D	0.67535186	0.76720	0.47112358	0.69334	0.67535186	0.76721	0.47112358	0.69335	-11.141	0.80425	D	0.3554479733420268	0.45233	0.756	0.75317	P	.;.;.	.;.;.	5.246197	0.88079	29.5	0.99955934460348494	0.99975	0.98544	0.83920	D	AEFBI	0.937248	0.93476	D	0.77976261141028	0.84823	8.397035	0.76699137000927	0.87421	9.21608	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF 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	.	.	.	.	.	.	.	.	0.08333	527.83	44	chr5	149944375	.	C	T	527.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.082;DP=267;ExcessHet=0;FS=3.431;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.128;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1180	5	0	1	0
chr5	149944400	149944400	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G274A:p.D92N	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	296294	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|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	.	.	.	.	.	.	.	.	0.784	0.113893226854	7.7e-05	0.000599042	0.0005	9.612e-05	8.637e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199924410	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.987e-05	6.708e-05	3.826e-05	0	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0.0003	0	0	0	0.0001	0.0005	0.0037	0.014	0.53172	D	0.004	0.76473	D	0.828	0.46021	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.555	0.93317	H	-0.79	0.73739	T	-4.06	0.74582	D	0.897	0.90025	0.401	0.89115	D	0.586	0.85167	D	10	0.15233639	0.28777	T	0.113893	0.79256	D	0.784	0.92827	.	.	0.959201930552	0.95876	0.46917647258422523	0.46836	0.492454931877	0.47890	0.571771860123	0.48929	T	0.477473	0.93548	T	-0.286847	0.09955	T	-0.188177	0.55760	T	0.322011649589756	0.25903	T	0.975602	0.91418	D	0.7080398	0.78500	0.6784628	0.81113	0.7080398	0.78501	0.6784628	0.81113	-11.987	0.84788	D	0.5802175747067403	0.64707	0.301	0.53080	B	.;.;.	.;.;.	4.771144	0.77233	26.7	0.99902036683565598	0.97350	0.98544	0.83920	D	AEFBI	0.940572	0.94270	D	0.809232720125816	0.86682	8.963824	0.788593331931833	0.88989	9.794523	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF 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	.	.	.	.	.	.	.	.	0.08333	488.83	44	chr5	149944400	.	C	T	488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=268;ExcessHet=0;FS=2.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.933;SOR=0.592	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1180	5	0	1	0
chr5	150047729	150047729	G	C	exonic	HMGXB3	.	nonsynonymous SNV	HMGXB3:NM_001366501:exon16:c.G2558C:p.G853A,HMGXB3:NM_014983:exon17:c.G3056C:p.G1019A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00709926556252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419717917	7.146e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.37	0.16473	T	0.056	0.22806	B	0.028	0.21332	B	0.138964	0.18359	N	0.607663	1	0.08975	N	1.445	0.36358	L	.	.	.	-2.15	0.48687	N	0.215	0.24010	-1.0313	0.20034	T	0.073	0.29451	T	9	0.081051975	0.13226	T	0.007099	0.18814	T	0.079	0.23065	0.489	0.57415	0.0138822411134	0.00435	0.5381383291047536	0.53738	.	.	0.248992621899	0.03662	T	0.005008	0.20205	T	-0.26737	0.12052	T	-0.494056	0.22968	T	0.0262487452349716	0.01440	T	0.813719	0.46699	T	0.02448798	0.01285	0.04915418	0.07453	0.02448798	0.01285	0.04915418	0.07453	.	.	.	.	.	0.142	0.31228	B	.;.;.	.;.;.	0.932570	0.13078	9.582	0.51991479633356563	0.04664	0.25080	0.22591	N	AEFBI	0.111924	0.22142	N	-0.871613846597025	0.11521	0.5564523	-0.926924854048685	0.11460	0.5839383	0.988684120753873	0.31595	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-0.567	0.11175	0.344000	0.19703	0.194000	0.15776	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.244000	0.23106	0.3378:0.1188:0.5435:0.0	6.258	0.20091	670	0.60992	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3006.06	35	chr5	150047729	.	G	C	3006.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=403;ExcessHet=0.4139;FS=1.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1724,0,1693	4	0	2	0
chr5	150117736	150117736	C	T	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_001355016:exon21:c.G2827A:p.V943I,PDGFRB:NM_001355017:exon22:c.G2536A:p.V846I,PDGFRB:NM_002609:exon22:c.G3019A:p.V1007I	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0169677010642	0.0002	0.000199681	4.131e-05	0	0	0	0	6.01e-05	0	6.056e-05	3.88e-05	6	154602	rs142762235	4.585e-05	4.652e-05	4.902e-05	4.264e-05	0.0003	3.663e-05	3.348e-05	6.094e-05	3.372e-05	2.988e-05	4.472e-05	3.826e-05	2.519e-05	1.872e-05	0.0003	4.768e-05	4.969e-05	3.478e-05	3.286e-05	3.281e-05	3.858e-05	2.688e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.425	0.09687	T	0.523	0.10354	T	0.528	0.37661	P	0.082	0.29098	B	0.000355	0.45440	D	0.000000	0.971177	0.25667	N	1.525	0.38595	L	-0.94	0.75325	T	-0.42	0.14193	N	0.056	0.02759	-0.8554	0.51592	T	0.189	0.54079	T	10	0.07033679	0.10219	T	0.016968	0.38471	T	0.110	0.31079	.	.	0.441126933838	0.43733	0.39630007557819136	0.39545	0.319898815271	0.34186	0.560918092728	0.47397	T	0.233898	0.60081	T	-0.274129	0.11301	T	-0.4339	0.29492	T	0.0827091187238693	0.10331	T	0.79972	0.44511	T	0.04556853	0.07481	0.040436573	0.04369	0.04556853	0.07481	0.040436573	0.04369	-4.319	0.28442	T	0.10945678240200538	0.09141	0.070	0.03372	B	.	.	2.693739	0.35167	19.83	0.98380749320250993	0.40853	0.54542	0.29641	D	AEFBI	0.182805	0.31013	N	-0.125296788854871	0.36292	2.095892	0.00804625694106651	0.40088	2.38689	0.999960574383137	0.48965	0.700653	0.57754	0	0.670034	0.63936	0	0.717052	0.78885	0	0.631631	0.49550	0	.	.	5.26	5.26	0.73479	2.287000	0.43166	3.292000	0.37313	0.599000	0.40250	0.157000	0.23755	0.998000	0.33993	0.990000	0.65344	0.0:0.8431:0.0:0.1569	9.632	0.38947	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1121.83	41	chr5	150117736	.	C	T	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=300;ExcessHet=0;FS=0.747;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=2.18;SOR=0.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1408	5	0	1	0
chr5	150298468	150298468	G	T	exonic	ARSI	.	nonsynonymous SNV	ARSI:NM_001012301:exon2:c.C456A:p.F152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.205618670655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.44694	T	0.051	0.55759	T	0.237	0.30795	B	0.14	0.33554	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.545	0.39105	L	-4.97	0.98468	D	-3.77	0.71397	D	0.843	0.86191	0.630	0.92288	D	0.877	0.95921	D	10	0.88748795	0.88080	D	0.205619	0.86995	D	0.714	0.89831	0.794	0.91511	0.884139936889	0.88300	0.926654299910491	0.92643	0.699425841073	0.61035	0.814115524292	0.84124	D	0.84243	0.96338	D	0.365883	0.87697	D	0.287789	0.87539	D	0.979547441005707	0.72886	D	0.912209	0.68816	D	0.39090672	0.60096	0.3636952	0.61751	0.39090672	0.60097	0.3636952	0.61751	-7.191	0.55416	T	.	.	0.992	0.94382	P	.;.;.	.;.;.	3.329107	0.45818	22.2	0.99505786569190302	0.68322	0.93634	0.58756	D	AEFBI	0.634753	0.61451	D	-0.0796647352496171	0.38284	2.239974	-0.0117018080072553	0.39186	2.31958	0.99993046428096	0.46732	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	2.33	0.27981	3.658000	0.54221	2.929000	0.35606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2231:0.0:0.7769:0.0	8.821	0.34182	814	0.42100	Sulfatase, N-terminal;.;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	514.83	78	chr5	150298468	.	G	T	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.085;DP=538;ExcessHet=0;FS=134.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=2.98;SOR=7.614	GT:AD:DP:GQ:PL	0/1:141,44:185:99:525,0,3590	5	0	1	0
chr5	150374309	150374311	GAG	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_000356:exon7:c.775_777del:p.E260del,TCOF1:NM_001135245:exon7:c.775_777del:p.E260del,TCOF1:NM_001008657:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001135243:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001135244:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001195141:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001371623:exon8:c.1006_1008del:p.E337del	Treacher Collins syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410645816	1.395e-06	1.368e-06	1.383e-06	1.407e-06	1.203e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.115e-07	0	1.203e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	604.79	34	chr5	150374308	.	AGAG	A	604.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.153;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=1.05;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1220	5	0	1	0
chr5	150379715	150379715	G	T	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon16:c.G2611T:p.A871S,TCOF1:NM_001135245:exon16:c.G2611T:p.A871S,TCOF1:NM_001008657:exon17:c.G2842T:p.A948S,TCOF1:NM_001135243:exon17:c.G2842T:p.A948S,TCOF1:NM_001135244:exon17:c.G2842T:p.A948S,TCOF1:NM_001195141:exon17:c.G2842T:p.A948S,TCOF1:NM_001371623:exon17:c.G2842T:p.A948S	Treacher Collins syndrome 1, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	302417	not_provided|Treacher_Collins_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	.	0.00159744	0.0014	0	0.0006	0.0160	0	0.0001	0	0.0009	0.0011837	183	154602	rs181102251	0.0006	0.0006	0.0005	0.0006	0.0158	0.0005	0.0005	0.0147	0.0143	2.987e-05	0.0002	0	0.0158	0	0.0003	5.396e-05	0.0006	0.0011	0.0005	0.0005	0.0005	0.0006	0.0125	0.0004	0.0004	0.0101	0.0092	2.404e-05	0	0.0001	0	0.0125	0	0	0.0001	0.0009	0.0004	0.119	0.91255	T	0.282	0.23433	T	0.979	0.59044	D	0.814	0.58796	P	0.749336	0.09713	N	0.852693	1	0.08975	N	2.35	0.67516	M	-0.61	0.78860	T	-1.8	0.42763	N	0.09	0.11054	-1.0397	0.17404	T	0.085	0.33128	T	10	0.0040844083	0.00080	T	.	.	.	0.201	0.48592	.	.	0.396617757867	0.39272	0.060200875876350764	0.05960	0.384657938624	0.39763	0.329096078873	0.14797	T	0.110617	0.42544	T	-0.411214	0.01951	T	-0.349831	0.39226	T	0.0287530344698301	0.01800	T	0.782722	0.59062	T	0.08150858	0.18732	0.078368835	0.17547	0.10093527	0.23837	0.07300124	0.15812	-6.092	0.58827	T	0.560773249699394	0.62855	0.104	0.22098	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.979314	0.13568	10.09	0.94859658459434926	0.25669	0.14679	0.18529	N	AEFBCI	0.039124	0.05639	N	-0.508122515480138	0.21816	1.160587	-0.626430115225599	0.18815	1.006774	0.932173156773936	0.27078	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.0	3.1	0.34780	-0.134000	0.10415	0.884000	0.22419	-0.106000	0.15538	0.000000	0.06391	0.006000	0.19429	0.001000	0.02609	0.0:0.35:0.6499:0.0	11.538	0.49901	856	0.34373	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1233.83	87	chr5	150379715	.	G	T	1233.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.032;DP=262;ExcessHet=0;FS=2.124;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.098;SOR=0.461	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	5	0	1	0
chr5	150848174	150848174	G	C	exonic	IRGM	.	nonsynonymous SNV	IRGM:NM_001145805:exon2:c.G51C:p.E17D,IRGM:NM_001346557:exon2:c.G51C:p.E17D	.	0	1444	76	2	0	80	0.0269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0024	0.00758786	0.0151	0.0005	0.0025	0.0014	0	0.0069	0	0.0307	0.0025355	392	154602	rs180802994	0.0037	0.0036	0.0027	0.0048	0.0310	0.0036	0.0036	0.0299	0.0295	0.0006	0.0022	0.0212	8.366e-05	4.059e-05	0.0193	0.0016	0.0056	0.0310	0.0027	0.0027	0.0022	0.0032	0.0313	0.0025	0.0024	0.0272	0.0257	0.0003	0	0.0033	0.0153	0.0002	0	0.0204	0.0020	0.0024	0.0313	0.322	0.13479	T	0.414	0.14369	T	0.121	0.26708	B	0.111	0.31539	B	.	.	.	.	1	0.08975	N	1.22	0.30592	L	1.95	0.22474	T	-1.56	0.37759	N	0.019	0.00279	-0.9682	0.37571	T	0.034	0.14464	T	9	0.003407836	0.00060	T	.	.	.	0.017	0.02790	0.15	0.05339	.	.	0.14367832538051503	0.14290	.	.	0.297916293144	0.10092	T	0.044177	0.26733	T	-0.6804	0.00048	T	-0.727127	0.04459	T	0.00919124405454149	0.00116	T	0.418758	0.11073	T	0.14510521	0.33277	0.09698936	0.23066	0.11300703	0.26692	0.09698936	0.23066	-4.762	0.34145	T	.	.	0.120	0.24867	B	.	.	0.889967	0.12634	9.159	0.80049062204180466	0.13021	0.01111	0.04064	N	AEFBI	0.025991	0.01875	N	-0.990399398596672	0.08807	0.4144106	-1.0681973073783	0.08332	0.4092104	0.0196309574440318	0.13180	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.48	1.13	0.19758	-0.447000	0.06901	-0.857000	0.07156	0.578000	0.29377	0.023000	0.19925	0.000000	0.08366	0.104000	0.18471	0.2084:0.0:0.534:0.2576	2.696	0.04816	692	0.58729	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014045	0.006329	0.000000	0.000000	0.100000	0.045455	0.013333	0.030303	0.08333	1688.83	33	chr5	150848174	.	G	C	1688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.545;DP=324;ExcessHet=0;FS=3.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.831;SOR=0.399	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	5	0	1	0
chr5	151140207	151140207	C	A	exonic	ANXA6	.	nonsynonymous SNV	ANXA6:NM_001155:exon3:c.G55T:p.G19C,ANXA6:NM_001363114:exon3:c.G55T:p.G19C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0168897654463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.495	0.37059	P	0.261	0.39516	B	0.000380	0.45194	D	0.248511	1	0.81001	D	2.2	0.62015	M	2.68	0.12371	T	-4.82	0.83967	D	0.266	0.31702	-1.0599	0.11781	T	0.043	0.18326	T	10	0.18349841	0.33679	T	0.01689	0.38356	T	0.122	0.33800	0.477	0.55502	0.356484672536	0.35262	0.47484438249070254	0.47403	0.120873157653	0.13611	0.252226233482	0.04005	T	0.787859	0.94460	D	-0.129834	0.31521	T	-0.424274	0.30586	T	0.991848945617676	0.82201	D	0.89671	0.76258	D	0.8001258	0.83913	0.43174204	0.66782	0.8001258	0.83915	0.43174204	0.66782	-7.974	0.60892	D	.	.	0.135	0.48685	B	.;.;.;.;.	.;.;.;.;.	2.168281	0.27628	17.53	0.99100714432628545	0.52471	0.60231	0.31137	D	AEFGBI	0.316763	0.42096	N	-0.652635431083084	0.17385	0.8940651	-0.767006248512232	0.15305	0.8042599	0.999942840458381	0.47345	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	0.012	0.13410	0.385000	0.20413	-1.350000	0.05649	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.940000	0.48062	0.0:0.6366:0.0:0.3634	10.196	0.42232	671	0.60868	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	395.83	34	chr5	151140207	.	C	A	395.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.074;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.985;SOR=0.895	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1474	5	0	1	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2191.06	75	chr5	151507207	.	G	C	2191.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.76;DP=417;ExcessHet=0.4139;FS=0.555;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.846;SOR=0.645	GT:AD:DP:GQ:PL	0/1:44,33:77:99:902,0,1195	4	0	2	0
chr5	151666438	151666438	G	T	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309443:exon8:c.C654A:p.D218E,SPARC:NM_001309444:exon8:c.C657A:p.D219E,SPARC:NM_003118:exon8:c.C657A:p.D219E	Osteogenesis imperfecta, type XVII, Autosomal recessive	430	1088	4	0	0	4	0.00183486	.	.	.	589088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0225487785132	0.0008	0.000599042	0.0006	0	0.0003	0	0	0.0010	0	0.0005	0.0006015	93	154602	rs141567625	0.0006	0.0006	0.0006	0.0006	0.0023	0.0006	0.0006	0.0013	0.0011	0.0002	0.0005	0.0003	2.519e-05	0	0.0023	0.0007	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0001	0.0143	0.0012	0.0009	0	0	0.0034	0.0007	0.0014	0.0006	0.185	0.23450	T	0.0	0.92824	D	0.48	0.36739	P	0.349	0.42787	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.145	0.60081	M	1.8	0.25344	T	-2.86	0.60188	D	0.732	0.73285	-1.1277	0.01896	T	0.077	0.30920	T	10	0.01856038	0.00405	T	0.022549	0.45449	T	0.166	0.42578	0.557	0.67547	0.383609287871	0.37977	0.6481346045907727	0.64749	1.08819762492	0.77359	0.75154364109	0.74675	T	0.334009	0.70379	T	-0.26782	0.12002	T	-0.224957	0.52260	T	0.0715786176602894	0.08871	T	0.928907	0.73860	D	0.78650045	0.83056	0.61793244	0.77752	0.78650045	0.83057	0.61793244	0.77753	-8.927	0.67226	D	0.4649499817309045	0.54647	0.983	0.94651	P	.;.	.;.	4.140654	0.62030	24.4	0.99742616402470352	0.83629	0.93772	0.59147	D	AEFDBCI	0.877850	0.80274	D	0.327112635259625	0.57544	3.922134	0.455720666874259	0.65083	4.779332	0.999999999075543	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	5.64	0.86480	6.210000	0.72114	7.590000	0.61220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.698	0.96030	878	0.29785	SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	297.83	37	chr5	151666438	.	G	T	297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.531;DP=197;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.128;SOR=1.058	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,824	5	0	1	0
chr5	154713056	154713056	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367717:exon1:c.C131T:p.A44V,LARP1:NM_015315:exon1:c.C131T:p.A44V	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0237734671981	0.0018	0.000599042	0.0020	0.0005	0.0022	0	0.0003	0.0031	0.0022	0.0005	0.0019405	300	154602	rs148235669	0.0029	0.0029	0.0030	0.0028	0.0038	0.0028	0.0028	0.0034	0.0033	0.0007	0.0016	0.0014	2.519e-05	0.0004	0.0038	0.0035	0.0024	0.0008	0.0018	0.0018	0.0020	0.0016	0.0029	0.0016	0.0016	0.0026	0.0024	0.0006	0	0.0021	0.0020	0	0.0002	0.0068	0.0029	0.0038	0.0006	0.304	0.14303	T	0.056	0.46632	T	0.197	0.29559	B	0.099	0.30579	B	.	.	.	.	0.999973	0.18612	N	.	.	.	1.82	0.25018	T	-0.56	0.17003	N	0.375	0.41656	-1.0304	0.20325	T	0.042	0.18160	T	8	0.0072264075	0.00164	T	0.023773	0.46744	T	0.048	0.13305	.	.	0.435088243681	0.43129	0.05618138633720036	0.05559	0.623265000944	0.56557	0.386894404888	0.23231	T	.	.	.	-0.509165	0.00507	T	-0.506578	0.21668	T	0.0207578805197638	0.00775	T	0.448055	0.12582	T	.	.	.	.	.	.	.	.	-4.092	0.25172	T	.	.	0.082	0.08609	B	.	.	1.876866	0.23837	16.17	0.95729724347972733	0.27669	0.70415	0.34581	D	AEFDBHCI	0.139694	0.26137	N	-0.495662974619216	0.22223	1.185069	-0.458879772951925	0.23297	1.269748	0.999997668802424	0.74766	0.40479	0.06251	1	0.573888	0.26702	0	0.685912	0.62441	0	0.631631	0.49550	0	.	.	3.81	2.94	0.33188	2.844000	0.47946	0.920000	0.22697	-0.218000	0.08083	0.961000	0.33663	0.172000	0.23351	0.002000	0.04165	0.2222:0.7778:0.0:0.0	8.889	0.34585	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.004076	0.011696	0.000000	0.000000	0.003049	0.003788	0.08333	596.83	34	chr5	154713056	.	C	T	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.084;DP=251;ExcessHet=0;FS=2.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.758;SOR=1.061	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1306	5	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	448.6	129	chr5	154834880	.	G	C	448.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.142;DP=810;ExcessHet=1.383;FS=305.479;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.852;SOR=9.712	GT:AD:DP:GQ:PL	0/0:96,30:142:7:0,7,2080	3	0	3	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	40846.1	393	chr5	157052557	.	C	*	40846.1	.	AC=4;AF=0.333;AN=12;DP=2554;ExcessHet=1.383;FS=2.719;MLEAC=4;MLEAF=0.333;MQ=60;QD=17.49;SOR=0.518	GT:AD:DP:GQ:PL	0/1:270,180:450:99:6635,0,10693	2	0	4	0
chr5	157240068	157240068	C	A	exonic	ITK	.	nonsynonymous SNV	ITK:NM_005546:exon10:c.C858A:p.N286K	Lymphoproliferative syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2219922	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0191304644971	7.7e-05	.	8.282e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs141147698	5.482e-06	7.525e-06	4.092e-06	6.885e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.406e-06	0	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	0.002054	0.37364	N	0.316256	0.528349	0.31511	N	-0.585	0.02270	N	-0.84	0.74265	T	0.26	0.04380	N	0.185	0.20129	-0.9059	0.47343	T	0.143	0.46495	T	10	0.09102014	0.15907	T	0.01913	0.41408	T	0.126	0.34673	0.391	0.41443	0.739841096875	0.73750	0.27600801011499004	0.27513	0.454560597318	0.45146	0.518731117249	0.41447	T	0.421771	0.77306	T	-0.209551	0.19442	T	-0.523296	0.19962	T	0.0447747082251897	0.04561	T	0.591441	0.21800	T	0.055436995	0.10775	0.0644764	0.12926	0.055436995	0.10774	0.0644764	0.12926	-2.523	0.05940	T	.	.	0.184	0.39848	B	.	.	1.533323	0.19672	14.38	0.90295446407805713	0.19563	0.73363	0.35887	D	AEFDBI	0.310081	0.41620	N	-0.754046955515498	0.14523	0.7241689	-0.522850641701846	0.21533	1.165339	0.99281697957076	0.32978	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.86	0.43689	0.555000	0.23129	1.178000	0.24674	-0.182000	0.10109	0.741000	0.29037	1.000000	0.68203	0.986000	0.61781	0.0:0.7871:0.0:0.2129	10.106	0.41706	437	0.80299	SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1139.83	35	chr5	157240068	.	C	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=304;ExcessHet=0;FS=1.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.216;SOR=0.537	GT:AD:DP:GQ:PL	0/1:71,49:120:99:1150,0,1807	5	0	1	0
chr5	157505714	157505714	G	A	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon11:c.C1085T:p.S362L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0389826151698	.	.	4.993e-05	0	0	0	0	1.513e-05	0	0.0003	3.88e-05	6	154602	rs766806071	2.121e-05	2.121e-05	1.497e-05	2.75e-05	0.0002	1.52e-05	1.324e-05	0.0002	0.0001	5.974e-05	2.236e-05	0	2.519e-05	0	0	5.396e-06	1.656e-05	0.0002	1.973e-05	1.97e-05	3.856e-05	0	6.55e-05	5.25e-06	2.46e-06	.	.	2.415e-05	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.235	0.18000	T	0.231	0.25061	T	0.031	0.20130	B	0.004	0.10090	B	0.253684	0.15456	N	0.614391	0.956252	0.26305	N	1.22	0.30592	L	-2.19	0.86815	D	-1.2	0.30555	N	0.283	0.32037	-0.6186	0.64047	T	0.421	0.76623	T	10	0.08437154	0.14135	T	0.038983	0.58547	D	0.069	0.20116	.	.	0.682685154404	0.67998	0.30539801415623785	0.30452	0.46062844297	0.45616	0.346953511238	0.17472	T	0.122557	0.44631	T	-0.233795	0.16149	T	-0.294172	0.45336	T	0.0918554812669754	0.11436	T	0.70113	0.34859	T	0.06181946	0.12843	0.07176784	0.15407	0.06181946	0.12843	0.07176784	0.15407	-5.297	0.39913	T	.	.	0.077	0.06387	B	.;.	.;.	1.943262	0.24685	16.49	0.98402458433019591	0.41084	0.20531	0.21075	N	AEFDGBI	0.113530	0.22396	N	-0.635122559849403	0.17896	0.9248222	-0.576051544081054	0.20118	1.082472	0.999995272855815	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.91	3.16	0.35406	0.664000	0.24749	2.685000	0.34045	0.676000	0.76740	0.059000	0.21734	0.998000	0.33993	0.880000	0.42090	0.127:0.1153:0.6382:0.1195	5.398	0.15581	825	0.40060	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2333.06	34	chr5	157505714	.	G	A	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=329;ExcessHet=0.4139;FS=1.885;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.39;SOR=0.864	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1170,0,907	4	0	2	0
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.08333	803.83	34	chr5	159323321	.	C	T	803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=251;ExcessHet=0;FS=1.867;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.01;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	1	0
chr5	163478715	163478715	G	A	exonic	HMMR	.	nonsynonymous SNV	HMMR:NM_001142557:exon9:c.G1039A:p.A347T,HMMR:NM_012485:exon11:c.G1252A:p.A418T,HMMR:NM_001142556:exon12:c.G1300A:p.A434T,HMMR:NM_012484:exon12:c.G1297A:p.A433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00296335146627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.736e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.22920	T	0.588	0.12072	T	0.147	0.40281	B	0.05	0.32546	B	0.348895	0.13847	N	0.672783	0.996223	0.26678	N	2.505	0.72935	M	3.21	0.07125	T	-0.8	0.22078	N	0.184	0.23632	-1.0114	0.26478	T	0.020	0.08593	T	10	0.094124794	0.16713	T	0.002963	0.06309	T	0.073	0.21317	0.066	0.00312	0.541376754579	0.53790	0.041801672150613915	0.04125	0.0711864951861	0.07972	0.286653876305	0.08436	T	0.232591	0.59919	T	-0.296394	0.09005	T	-0.663526	0.08031	T	0.1490148662738	0.17024	T	0.724128	0.33779	T	0.038203783	0.05044	0.060690712	0.11598	0.038203783	0.05044	0.060690712	0.11598	-3.947	0.27341	T	.	.	0.081	0.09288	B	.;.;.;.	.;.;.;.	1.668638	0.21274	15.13	0.63257777029276374	0.07176	0.34817	0.25157	N	AEFBCI	0.055071	0.10069	N	-0.305210902986116	0.28949	1.601138	-0.277646016851173	0.28836	1.610903	0.999856655661129	0.44174	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	4.43	3.56	0.39892	0.610000	0.23950	3.337000	0.37675	0.590000	0.31872	0.713000	0.28751	0.983000	0.30585	0.059000	0.15899	0.1826:0.1587:0.6587:0.0	6.125	0.19395	935	0.14827	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	36	chr5	163478715	.	G	A	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.886;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.943;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	5	0	1	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I	.	451	1042	27	2	0	31	0.0146572	.	.	.	369735	RARS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010101	0.005102	0.009511	0.002924	0.000000	0.025862	0.015432	0.018939	0.08333	741.83	36	chr5	168502030	.	G	A	741.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.059;DP=222;ExcessHet=0;FS=2.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-2.865;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	5	0	1	0
chr5	168529692	168529761	GCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA	-	exonic	FBLL1	.	frameshift deletion	FBLL1:NM_001355274:exon1:c.188_257del:p.R64Afs*35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	206.08	20	chr5	168529691	.	GGCCGGGGGCGCGGCGGCGGCGACGGCAAGGATCGCGGCGGCGGTGGACAGCGGCGGGGCGGCGTGGCCAA	G	206.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=54;ExcessHet=0;FS=2.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.309;SOR=1.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,60:.	5	0	1	0
chr5	168529714	168529714	C	0	exonic	FBLL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	363.41	30	chr5	168529714	.	C	*	363.41	.	AC=1;AF=0.083;AN=12;DP=72;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=20.19;SOR=3.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:5:15:.:.:170,170,170:.	5	0	1	0
chr5	168671424	168671424	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon34:c.G3922A:p.G1308S,SLIT3:NM_003062:exon34:c.G3901A:p.G1301S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0247598888853	7.7e-05	.	5.1e-05	0	0	0.0001	0	3.082e-05	0	0.0002	3.88e-05	6	154602	rs369289265	1.848e-05	1.984e-05	1.225e-05	2.476e-05	0.0001	1.265e-05	1.084e-05	5.401e-05	4.046e-05	0	0	0	5.04e-05	0	0	1.439e-05	0	0.0001	5.255e-05	5.253e-05	7.706e-05	2.689e-05	0.0004	2.556e-05	1.83e-05	7.285e-05	3.027e-05	9.647e-05	0	0	0	0	0	0	2.939e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.05	0.25278	B	0.000004	0.62929	D	0.105463	0.999939	0.51612	D	-0.56	0.02328	N	-0.5	0.70480	T	0.69	0.02195	N	0.209	0.23253	-0.8784	0.49888	T	0.138	0.45526	T	10	0.11558801	0.21780	T	0.02476	0.47746	T	0.184	0.45763	.	.	0.365319054842	0.36143	0.5547681476964378	0.55403	0.507590868077	0.48939	0.541760623455	0.44694	T	0.13612	0.46832	T	-0.277259	0.10960	T	-0.399371	0.33457	T	0.0730959067061317	0.09078	T	0.833117	0.50161	T	0.102799974	0.24294	0.15839958	0.36991	0.102799974	0.24293	0.15839958	0.36990	-4.956	0.36948	T	.	.	0.075	0.05579	B	.;.;.	.;.;.	2.868655	0.37927	20.6	0.83016291854325108	0.14497	0.84105	0.43190	D	AEFDBHCIJ	0.484694	0.52460	N	-0.476647665683061	0.22848	1.222849	-0.237433719730543	0.30205	1.698784	0.999802465815606	0.43304	0.487112	0.14033	0	0.547309	0.14657	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	2.136000	0.41744	5.881000	0.50644	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.793000	0.37436	0.0:1.0:0.0:0.0	18.371	0.90349	953	0.10115	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	875.83	34	chr5	168671424	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.142;DP=245;ExcessHet=0;FS=17.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.83;SOR=0.077	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	5	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	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	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.08333	637.83	33	chr5	169598495	.	A	T	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.254;DP=220;ExcessHet=0;FS=1.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.793;SOR=0.99	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	5	0	1	0
chr5	169684229	169684229	C	T	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon8:c.C640T:p.R214W	Immunodeficiency 40, Autosomal recessive	425	1064	31	2	0	35	0.0161812	.	.	.	709813	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.241	.	0.0008	0.00658946	0.0047	0.0007	0.0009	0.0007	0	0.0011	0.0022	0.0289	0.0041849	647	154602	rs150969388	0.0025	0.0025	0.0016	0.0033	0.0278	0.0024	0.0024	0.0269	0.0265	0.0004	0.0007	0.0015	0.0002	3.744e-05	0.0062	0.0008	0.0026	0.0278	0.0015	0.0015	0.0012	0.0018	0.0274	0.0013	0.0013	0.0236	0.0221	0.0004	0	0.0010	0.0003	0.0002	0	0	0.0009	0.0014	0.0274	0.01	0.56456	D	0.012	0.63918	D	1.0	0.90584	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	2.585	0.75554	M	0.81	0.48460	T	-2.83	0.59710	D	0.792	0.78832	-0.5204	0.67899	T	0.285	0.65705	T	10	0.006866753	0.00156	T	.	.	.	0.241	0.54641	.	.	0.709050542064	0.70651	0.7137054953560904	0.71313	1.26435304804	0.82127	0.631664514542	0.57381	T	0.374971	0.73866	T	-0.101771	0.36132	T	0.102666	0.77084	D	0.0444213604335121	0.04497	T	0.929907	0.74113	D	0.2717499	0.50245	0.22089736	0.46881	0.3065954	0.53490	0.22946432	0.48018	-9.779	0.72577	D	.	.	0.316	0.54183	B	.;.	.;.	4.657162	0.74301	26.1	0.99897553318459253	0.97048	0.97898	0.77962	D	AEFGBI	0.810267	0.73355	D	0.674911561354119	0.77988	6.782021	0.658196086138679	0.79221	7.037089	0.999999999980755	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	3.149000	0.50351	1.752000	0.28483	0.599000	0.40250	0.998000	0.41325	0.940000	0.28757	0.992000	0.67800	0.0:1.0:0.0:0.0	19.257	0.93936	842	0.36989	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	1250.83	34	chr5	169684229	.	C	T	1250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.55;DP=270;ExcessHet=0;FS=4.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.461;SOR=1.204	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1261,0,962	5	0	1	0
chr5	170108190	170108190	C	T	exonic	FOXI1	.	nonsynonymous SNV	FOXI1:NM_012188:exon2:c.C716T:p.P239L	Enlarged vestibular aqueduct, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	1442011	Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0548001636533	7.7e-05	.	0.0002	0	0.0005	0	0	0.0003	0	6.057e-05	0.0001811	28	154602	rs371025378	0.0002	0.0002	0.0002	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	0.0006	3.826e-05	0	0	0.0028	0.0002	0.0004	5.797e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.22e-05	0	0.0004	0	0	0	0.0068	0.0003	0.0005	0.0002	0.317	0.13699	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.126227	0.18812	N	0.502040	0.999999	0.26806	N	-2.395	0.00075	N	-3.55	0.94834	D	-0.01	0.07155	N	0.047	0.01911	-0.5090	0.68323	T	0.368	0.72803	T	10	0.035808444	0.01848	T	0.055	0.65995	D	0.254	0.56428	.	.	0.817822398108	0.81610	0.6436249488509352	0.64297	0.175847818237	0.19797	0.380681812763	0.22353	T	0.226307	0.59129	T	-0.388197	0.02762	T	-0.433484	0.29541	T	0.0705436021089554	0.08727	T	0.121888	0.00944	T	0.036769897	0.04588	0.036067553	0.02980	0.035132688	0.04077	0.03732559	0.03361	-4.176	0.26403	T	0.06870911782740376	0.02516	0.063	0.01428	B	.	.	1.277313	0.16768	12.75	0.44469161997094164	0.03421	0.06510	0.12521	N	AEFDBHI	0.036131	0.04766	N	-1.11273688320624	0.06415	0.2952495	-0.881726235399356	0.12527	0.6448962	0.994702264199692	0.33762	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.91	3.76	0.42368	1.827000	0.38740	2.787000	0.34772	-0.660000	0.04357	0.491000	0.26886	1.000000	0.68203	0.015000	0.10482	0.0:0.153:0.0:0.847	8.894	0.34610	946	0.12043	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.002924	0.000000	0.017241	0.003049	0.000000	0.08333	1228.83	94	chr5	170108190	.	C	T	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=278;ExcessHet=0;FS=3.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.258;SOR=0.378	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,107,1276	5	0	1	0
chr5	170270829	170270829	G	A	exonic	LCP2	.	nonsynonymous SNV	LCP2:NM_005565:exon7:c.C413T:p.P138L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0089008721655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172335425	6.852e-07	6.84e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.445	0.17064	T	0.001	0.07471	B	0.003	0.08700	B	0.336809	0.14026	N	0.681915	1	0.08975	N	1.39	0.34934	L	1.0	0.41392	T	-0.77	0.21429	N	0.227	0.26475	-1.0287	0.20876	T	0.060	0.24981	T	9	0.09638089	0.17284	T	0.008901	0.23463	T	0.013	0.01715	0.288	0.24761	0.158540857583	0.15491	0.1574275740673023	0.15663	0.174210107622	0.19610	0.349668771029	0.17873	T	0.356584	0.72341	T	-0.255264	0.13460	T	-0.604446	0.12440	T	0.0446440707310699	0.04537	T	0.741226	0.36032	T	0.02721166	0.01880	0.033363864	0.02219	0.02721166	0.01880	0.033363864	0.02218	-4.739	0.33872	T	.	.	0.071	0.03773	B	.;.	.;.	1.095174	0.14792	11.33	0.58599517024950165	0.06030	0.04924	0.10679	N	AEFDBI	0.083745	0.16968	N	-0.829593762140962	0.12557	0.6128677	-0.793376257183861	0.14658	0.7669894	0.999806806638983	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	3.59	0.40253	1.316000	0.33226	2.007000	0.30148	0.676000	0.76740	0.141000	0.23520	0.818000	0.27101	0.063000	0.16184	0.1895:0.0:0.8105:0.0	8.221	0.30699	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1241.83	33	chr5	170270829	.	G	A	1241.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=285;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.032;SOR=0.577	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr5	171213638	171213638	A	G	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon21:c.A2239G:p.T747A	.	432	1089	1	0	0	1	0.000458926	.	.	.	3472269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00726619364867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214238634	5.484e-06	5.474e-06	4.093e-06	6.888e-06	5.043e-05	2.36e-06	1.71e-06	8.36e-06	3.13e-06	0	0	0	5.043e-05	0	0	4.508e-06	0	1.16e-05	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	0.801	0.03109	T	0.968	0.02496	T	0.0	0.02946	B	0.0	0.01387	B	0.343270	0.13929	N	0.680773	1	0.08975	N	-0.665	0.02058	N	-0.22	0.66474	T	0.12	0.05604	N	0.098	0.07949	-0.9564	0.39843	T	0.066	0.27156	T	10	0.062417626	0.07979	T	0.007266	0.19280	T	0.104	0.29647	0.63	0.76588	0.312001716656	0.30816	0.14871393823960954	0.14793	0.0258376164656	0.02637	0.287171334028	0.08511	T	0.001068	0.00587	T	-0.385518	0.02874	T	-0.622418	0.10997	T	0.0114743188170914	0.00172	T	0.616838	0.23625	T	0.029209211	0.02378	0.03346736	0.02247	0.029209211	0.02377	0.03346736	0.02247	-5.74	0.44048	T	.	.	0.053	0.00274	B	.	.	0.139413	0.05334	1.823	0.25942385079433977	0.01219	0.02538	0.07055	N	AEFI	0.037414	0.05142	N	-1.42311563107602	0.02436	0.1075972	-1.38877923108562	0.03370	0.1570881	0.00115363826534227	0.08283	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.17	-4.37	0.03381	-0.830000	0.04517	-0.395000	0.09449	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.2187:0.1106:0.5625:0.1083	7.355	0.25886	965	0.07246	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	921.83	37	chr5	171213638	.	A	G	921.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.216;DP=244;ExcessHet=0;FS=3.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.229;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	5	0	1	0
chr5	171298776	171298776	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon28:c.T3185C:p.L1062P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.0629243440437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.966	0.71341	D	0.070468	0.21537	N	0.389211	0.999999	0.58761	D	2.515	0.73286	M	1.19	0.37578	T	-5.76	0.87835	D	0.835	0.83066	-0.6875	0.61024	T	0.218	0.58085	T	10	0.92304945	0.91656	D	0.062924	0.68806	D	0.493	0.77910	0.739	0.87147	0.514127983839	0.51054	0.7970649270949042	0.79659	0.0906167406109	0.10225	0.617792129517	0.55417	T	0.241049	0.60950	T	0.252154	0.78802	D	0.124425	0.78527	D	0.987900495529175	0.78316	D	0.973703	0.90499	D	0.8941516	0.90866	0.896922	0.94758	0.8941516	0.90868	0.896922	0.94758	-13.628	0.91785	D	.	.	0.995	0.95728	P	.	.	4.263107	0.64809	24.8	0.99841238342801919	0.92143	0.96999	0.72108	D	AEFBI	0.723185	0.67288	D	0.582041614517454	0.72054	5.745787	0.522870119231729	0.69533	5.373814	0.999999785133579	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.49644	0.08281	0	0.645948	0.59608	0	.	.	5.87	5.87	0.94266	4.678000	0.61331	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:0.0:0.0:1.0	14.510	0.67368	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1031.83	35	chr5	171298776	.	T	C	1031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.209;DP=267;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.124;SOR=0.689	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1175	5	0	1	0
chr5	176313838	176313838	A	G	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308200:exon2:c.A208G:p.N70D,SIMC1:NM_198567:exon4:c.A580G:p.N194D,SIMC1:NM_001308195:exon5:c.A1882G:p.N628D,SIMC1:NM_001308196:exon7:c.A1825G:p.N609D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0220807698191	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220101467	3.422e-06	3.42e-06	2.724e-06	4.128e-06	3.479e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	1.799e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.47320	D	0.032	0.55341	D	0.996	0.73220	D	0.987	0.77487	D	0.000358	0.45440	D	0.150979	0.766421	0.36924	D	1.905	0.50856	L	0.97	0.42502	T	-2.86	0.69714	D	0.791	0.82157	-0.7580	0.57514	T	0.208	0.56690	T	10	0.6744463	0.70906	D	0.022081	0.44930	T	0.109	0.30843	0.286	0.24440	0.74632466248	0.74404	0.4984494228325349	0.49765	0.390551317929	0.40270	0.622554898262	0.56089	T	0.193363	0.54881	T	-0.126392	0.32082	T	-0.41933	0.31152	T	0.958835244178772	0.65375	D	0.846715	0.54490	T	0.24692552	0.47666	0.30014712	0.56048	0.24692552	0.47666	0.30014712	0.56047	-8.096	0.62121	D	.	.	0.721	0.77669	P	.;.;.;.;.	.;.;.;.;.	4.531970	0.71148	25.6	0.99726993852026236	0.82477	0.94431	0.61144	D	AEFBI	0.512707	0.54081	D	0.630067448527409	0.75084	6.243994	0.638573002987356	0.77764	6.742307	0.961780481959973	0.28577	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.61	5.61	0.85347	5.606000	0.67324	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.326	0.59895	657	0.62240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1106.83	88	chr5	176313838	.	A	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=274;ExcessHet=0;FS=1.885;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.088;SOR=0.997	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1130	5	0	1	0
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	1858.83	36	chr5	176889690	.	C	T	1858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.787;DP=325;ExcessHet=0;FS=0.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.024;SOR=0.778	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1205	5	0	1	0
chr5	176896096	176896096	C	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon2:c.G64C:p.G22R	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.050555579138	0.0006	0.000199681	0.0006	0	0.0003	0	0.0002	0.0008	0	0.0005	0.0005304	82	154602	rs201418082	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	0	0.0006	0.0054	0	3.744e-05	0.0021	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	9.625e-05	0	0.0007	0.0055	0	0	0.0034	0.0004	0.0009	0.0004	0.005	0.63226	D	0.003	0.76473	D	0.706	0.42003	P	0.294	0.40804	B	0.043315	0.23752	N	0.211546	1	0.08975	N	0.55	0.14455	N	-4.63	0.97902	D	-0.14	0.09135	N	0.337	0.37820	0.245	0.86663	D	0.761	0.91862	D	10	0.006638795	0.00150	T	0.050556	0.64291	D	0.241	0.54641	.	.	0.851315264002	0.84988	0.46432178357590964	0.46351	0.205290401865	0.22950	0.309876739979	0.11889	T	0.053245	0.29389	T	-0.180754	0.23625	T	-0.138836	0.60219	T	0.015969632493224	0.00379	T	0.748625	0.36937	T	0.10052545	0.23737	0.10466212	0.25142	0.10052545	0.23737	0.10466212	0.25142	-4.398	0.29530	T	.	.	0.099	0.16886	B	.	.	1.521710	0.19533	14.31	0.9805506315314636	0.37897	0.08065	0.14038	N	AEFDBHCI	0.089402	0.18121	N	-0.665448381877779	0.17012	0.8717984	-0.788548299149569	0.14775	0.7738248	0.999997874999774	0.74766	0.569682	0.32691	0	0.59043	0.45803	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	3.56	1.73	0.23565	0.113000	0.15333	1.052000	0.23646	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.025000	0.12405	0.0:0.6571:0.221:0.1219	4.845	0.12869	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	649.83	39	chr5	176896096	.	C	G	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.725;DP=242;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.22;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,942	5	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	4722.83	40	chr5	177210738	.	C	T	4722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.94;DP=1468;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.057;SOR=0.808	GT:AD:DP:GQ:PL	0/0:362,0:362:99:0,120,1800	5	0	1	0
chr5	177592285	177592285	C	T	exonic	TMED9	.	nonsynonymous SNV	TMED9:NM_017510:exon1:c.C71T:p.T24I	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00402724667803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs753401092	1.37e-06	2.052e-06	0	2.756e-06	2.991e-05	2.3e-07	9e-08	.	.	2.991e-05	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.335	0.18286	T	0.0	0.02946	B	0.001	0.04355	B	0.082081	0.02365	N	2.051990	1	0.08975	N	0	0.06538	N	2.51	0.14284	T	0.07	0.06138	N	0.195	0.21449	-0.9973	0.30673	T	0.018	0.07423	T	10	0.07565138	0.11718	T	0.004027	0.09587	T	0.014	0.01968	0.465	0.53566	0.0846915920261	0.08053	0.33740531346551306	0.33653	0.436663621925	0.43751	0.455023467541	0.32630	T	0.014127	0.12084	T	-0.297908	0.08858	T	-0.665701	0.07886	T	0.0703189969062805	0.08696	T	0.385961	0.09480	T	0.040866278	0.05912	0.042268585	0.04997	0.040866278	0.05912	0.042268585	0.04996	-5.058	0.37463	T	.	.	0.103	0.18456	B	.	.	0.826607	0.11982	8.538	0.78658806901707523	0.12396	0.09981	0.15610	N	ALL	0.416301	0.48481	N	-1.28480730244418	0.03858	0.1730922	-1.24756278058537	0.05167	0.2455589	0.999999999997853	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.84	2.09	0.26154	-0.116000	0.10697	1.143000	0.24420	-1.054000	0.01632	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1665:0.4932:0.1615:0.1788	1.800	0.02883	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	.	.	.	.	.	.	.	.	0.08333	593.83	37	chr5	177592285	.	C	T	593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=246;ExcessHet=0;FS=1.22;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-1.21;SOR=0.994	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1006076	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	1402.83	106	chr5	178986908	.	G	A	1402.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.237;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.31;SOR=0.736	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1413,0,1957	5	0	1	0
chr5	179878341	179878341	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon10:c.G1750A:p.A584T,TBC1D9B:NM_198868:exon10:c.G1750A:p.A584T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.027961883818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.505	0.72935	M	3.35	0.05989	T	-3.57	0.68999	D	0.967	0.97750	0.124	0.84609	D	0.528	0.82443	D	10	0.9189639	0.91253	D	0.027962	0.50703	D	0.545	0.81077	0.747	0.87821	0.554037457546	0.55062	0.7169074536632921	0.71633	0.763568361251	0.64387	0.855542063713	0.90449	D	0.236309	0.60376	T	0.233519	0.77051	D	0.0976579	0.76752	D	0.997601926326752	0.91964	D	.	.	.	0.8530789	0.87564	0.8953557	0.94646	0.8530789	0.87565	0.8953557	0.94646	-11.35	0.81543	D	.	.	0.729	0.78591	P	.;.	.;.	5.287868	0.88783	29.7	0.99937997311934057	0.99698	0.94898	0.62713	D	AEFDBHCI	0.896410	0.83745	D	0.551856022470688	0.70195	5.466021	0.585173983589697	0.73877	6.042798	1.0	0.98316	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	7.830000	0.84907	7.636000	0.62963	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.936	0.92558	912	0.21483	.;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	544.83	38	chr5	179878341	.	C	T	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.093;DP=221;ExcessHet=0;FS=1.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.191;SOR=1.051	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1044	5	0	1	0
chr5	180280488	180280488	C	T	exonic	MAPK9	.	nonsynonymous SNV	MAPK9:NM_001308244:exon1:c.G74A:p.R25H,MAPK9:NM_001135044:exon2:c.G74A:p.R25H,MAPK9:NM_002752:exon2:c.G74A:p.R25H,MAPK9:NM_139068:exon2:c.G74A:p.R25H,MAPK9:NM_139069:exon2:c.G74A:p.R25H,MAPK9:NM_139070:exon2:c.G74A:p.R25H,MAPK9:NM_001364607:exon3:c.G74A:p.R25H,MAPK9:NM_001364608:exon3:c.G74A:p.R25H,MAPK9:NM_001364609:exon3:c.G74A:p.R25H,MAPK9:NM_001364610:exon3:c.G74A:p.R25H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.109446218766	0.0002	.	2.471e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs372942401	2.463e-05	2.531e-05	2.586e-05	2.338e-05	3.147e-05	1.803e-05	1.6e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	1.656e-05	0	2.628e-05	2.627e-05	1.284e-05	4.035e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.022	0.92824	D	0.99	0.90584	D	0.624	0.97372	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-1.8	0.83893	D	-4.57	0.82341	D	0.838	0.90590	0.261	0.86923	D	0.647	0.87676	D	9	0.8281787	0.81989	D	0.109446	0.78642	D	0.656	0.87085	.	.	0.976749809739	0.97650	0.4954562196367625	0.49466	1.6529612223	0.89572	0.864002943039	0.91700	D	0.851919	0.96638	D	0.30795	0.83589	D	0.31223	0.88754	D	0.974454343318939	0.70515	D	0.918208	0.74900	D	0.75297374	0.81041	0.49433094	0.70754	0.75297374	0.81042	0.49433094	0.70754	-10.556	0.80344	D	.	.	0.888	0.81977	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.562949	0.71921	25.7	0.99947569987169804	0.99913	0.97469	0.74950	D	AEFBI	0.676231	0.64134	D	0.661813352908955	0.77136	6.616859	0.652015032999308	0.78762	6.941761	0.999999996333639	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	4.46	0.53567	6.067000	0.70831	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9278:0.0:0.0722	14.381	0.66476	958	0.09170	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	914.83	35	chr5	180280488	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.042;DP=249;ExcessHet=0;FS=3.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.168;SOR=0.98	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	5	0	1	0
chr5	181059404	181059404	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1150T:p.H384Y	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00379393	0.0091	0.0046	0	0	0	0.0074	0	0.0102	0.00174	269	154602	rs186444058	0.0093	0.0089	0.0093	0.0093	0.0104	0.0092	0.0091	0.0102	0.0102	0.0010	0.0047	0.0069	6.055e-05	0.0063	0.0077	0.0104	0.0071	0.0071	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0095	0.0093	0.0016	0.0033	0.0062	0.0072	0.0002	0.0073	0.0068	0.0102	0.0052	0.0056	0.0	0.91255	D	0.0	0.92824	D	0.204	0.29802	B	0.78	0.57283	P	0.049449	0.23159	U	0.217602	0.804617	0.29074	N	2.155	0.60227	M	-0.33	0.68329	T	-4.77	0.80425	D	0.491	0.52475	-0.3221	0.74363	T	0.270	0.64204	T	10	0.011678845	0.00254	T	.	.	.	0.462	0.75889	.	.	0.786551924775	0.78457	0.5107423983958618	0.50996	0.984627870661	0.73861	0.872152686119	0.92875	D	0.224	0.58830	T	-0.26595	0.12213	T	-0.146833	0.59525	T	0.0459653985849032	0.04777	T	0.925307	0.72522	D	0.790044	0.83275	0.8463283	0.91258	0.790044	0.83277	0.8463283	0.91259	-9.251	0.69299	D	.	.	0.138	0.30184	B	.	.	3.493665	0.48848	22.7	0.99665024118694867	0.78202	0.68061	0.33661	D	AEFDBHI	0.443193	0.50061	N	0.200396882495283	0.51219	3.304896	0.213521098429424	0.50598	3.250084	0.999999630721595	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	1.138000	0.31103	4.644000	0.44168	0.454000	0.21428	0.314000	0.25450	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	15.578	0.76153	.	.	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	rs186444058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014024	0.023810	0.003571	0.006536	0.000000	0.037500	0.011278	0.029412	0.08333	1133.83	74	chr5	181059404	.	C	T	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.597;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.367;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1326	5	0	1	0
chr5	181155769	181155769	C	T	exonic	OR2V2	.	nonsynonymous SNV	OR2V2:NM_206880:exon1:c.C827T:p.S276F	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00166654156825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	1.0	0.90584	D	0.999	0.92359	D	0.002440	0.36574	N	0.000000	0.999983	0.18198	N	3.325	0.90780	M	8.35	0.00252	T	-5.35	0.84742	D	0.63	0.64393	-1.0310	0.20131	T	0.003	0.00864	T	10	0.5989245	0.66801	D	0.001667	0.02753	T	0.098	0.28162	0.641	0.77795	0.501874446873	0.49824	0.2775742311776055	0.27670	0.442804097577	0.44231	0.379259049892	0.22151	T	0.010206	0.09237	T	-0.111428	0.34533	T	-0.397835	0.33636	T	0.969871401786804	0.68746	D	0.850515	0.53399	D	0.5340816	0.69062	0.5157201	0.72018	0.5340816	0.69063	0.5157201	0.72019	-10.017	0.74014	D	.	.	0.517	0.65328	A	.;.;.	.;.;.	3.302112	0.45331	22.1	0.99689899766884948	0.79842	0.29589	0.23861	N	AEFBI	0.097281	0.19624	N	0.336780854565476	0.58045	3.974647	0.1351147009624	0.46357	2.883095	0.977731614980252	0.29850	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.48	3.48	0.38946	2.587000	0.45793	1.845000	0.29216	0.365000	0.20147	0.352000	0.25776	0.798000	0.26924	0.002000	0.04165	0.0:1.0:0.0:0.0	12.825	0.57099	.	.	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	.	.	.	.	.	.	.	.	0.08333	2642.83	162	chr5	181155769	.	C	T	2642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.175;DP=447;ExcessHet=0;FS=4.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.996;SOR=0.891	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	0	1	0
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H,RIOK1:NM_031480:exon16:c.G1556A:p.R519H	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.004076	0.008772	0.000000	0.000000	0.051829	0.011364	0.1667	1987.04	33	chr6	7414350	.	G	A	1987.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.57;SOR=1.249	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	5	1	0	0
chr6	7542003	7542003	G	A	exonic	DSP	.	nonsynonymous SNV	DSP:NM_001008844:exon1:c.G88A:p.V30M,DSP:NM_001319034:exon1:c.G88A:p.V30M,DSP:NM_004415:exon1:c.G88A:p.V30M	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	31885	not_specified|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Keratosis_palmoplantaris_striata_2|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|not_provided|Cardiovascular_phenotype|Right_ventricular_cardiomyopathy|DSP-related_disorder|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.387	0.23017066898	0.0012	0.00219649	0.0031	0.0005	0.0010	0	0.0008	0.0033	0.0056	0.0057	0.0014812	229	154602	rs121912998	0.0014	0.0014	0.0012	0.0015	0.0084	0.0013	0.0013	0.0065	0.0058	0.0002	0.0009	0.0003	0	0.0002	0.0084	0.0013	0.0014	0.0042	0.0011	0.0011	0.0009	0.0014	0.0058	0.0010	0.0010	0.0041	0.0036	9.621e-05	0	0.0022	0.0003	0.0002	0	0.0034	0.0015	0.0009	0.0058	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.679581	0.06084	N	1.298300	2.51393e-07	0.08975	A	-0.695	0.01866	N	-0.46	0.73205	T	0.4	0.04233	N	0.129	0.12341	-1.1277	0.01896	T	0.028	0.12190	T	9	0.03806615	0.02200	T	0.230171	0.88218	D	0.387	0.70358	.	.	0.985536144344	0.98538	0.20338608805480365	0.20255	0.217344145385	0.24254	0.63002461195	0.57148	T	0.136982	0.46967	T	-0.327484	0.06304	T	-0.243055	0.50500	T	0.00928721387385083	0.00118	T	0.588241	0.21547	T	0.03418493	0.03789	0.070747614	0.15068	0.030420057	0.02701	0.06259425	0.12270	-3.964	0.23263	T	.	.	0.066	0.02639	B	.;.	.;.	-1.164488	0.00568	0.014	0.93041355189273778	0.22645	0.00527	0.02446	N	AEFDGBCIJ	0.020998	0.00888	N	-2.24236171749225	0.00062	0.00263961	-2.25981004249229	0.00082	0.003601877	0.999999999999126	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.67	-7.34	0.01280	-0.807000	0.04627	-0.336000	0.09852	-1.957000	0.00479	0.123000	0.23227	0.002000	0.18203	0.022000	0.11911	0.5813:0.0973:0.2244:0.0971	4.332	0.10505	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004065	0.000000	0.004087	0.000000	0.000000	0.000000	0.009375	0.007576	0.1667	2103.04	37	chr6	7542003	.	G	A	2103.04	.	AC=2;AF=0.167;AN=12;DP=255;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.21;SOR=0.749	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1100	5	1	0	0
chr6	7727220	7727220	C	T	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C265T:p.L89F	.	400	1121	1	0	0	1	0.000445831	.	.	.	3291237	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.924529464785	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs758074194	1.307e-05	1.505e-05	1.095e-05	1.522e-05	0.0002	8.36e-06	6.74e-06	8.54e-06	6.91e-06	3.003e-05	0	0	0	0	0.0002	1.443e-05	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.042	0.50226	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.000000	0.996528	0.43255	D	2.55	0.74443	M	-1.14	0.77843	T	-2.79	0.59059	D	0.64	0.65245	0.004	0.82341	D	0.509	0.81522	D	10	0.9033583	0.89699	D	0.924529	0.99447	D	0.611	0.84773	0.686	0.82367	0.80476949983	0.80294	0.6193815384355218	0.61871	0.705842346853	0.61421	0.801420152187	0.82179	T	0.763466	0.93610	D	0.0565607	0.59180	T	-0.156531	0.58663	T	0.992276906967163	0.82714	D	0.958304	0.84304	D	0.6110735	0.73285	0.5286435	0.72766	0.6110735	0.73286	0.5286435	0.72767	-10.13	0.74686	D	.	.	0.819	0.78201	P	.	.	4.751159	0.76717	26.6	0.99846415056425397	0.92663	0.56284	0.30078	D	AEFDBCI	0.114556	0.22558	N	0.407300648161074	0.61824	4.388727	0.272716882639522	0.53953	3.561847	0.999999583985753	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.666236	0.60216	0	0.621717	0.48901	0	.	.	3.34	2.46	0.29032	0.965000	0.28916	4.576000	0.43900	0.505000	0.23025	0.746000	0.29090	1.000000	0.68203	0.984000	0.60418	0.0:0.7904:0.0:0.2096	8.147	0.30280	888	0.27761	TGF-beta, propeptide	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1200.83	61	chr6	7727220	.	C	T	1200.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.522;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=-0.116;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1161:.	5	0	1	0
chr6	7880237	7880237	C	T	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon7:c.C1436T:p.A479V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.0947387561246	0.0002	0.000199681	0.0001	0.0002	8.637e-05	0.0005	0	0.0001	0	0.0002	0.0001294	20	154602	rs145889374	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	8.944e-05	0	0.0001	5.616e-05	0	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.723e-05	9.048e-05	7.012e-05	7.224e-05	0.0033	6.542e-05	0	0	0	0.0034	0.0002	0	0	0.036	0.43393	D	0.026	0.55759	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.57	0.15267	N	-2.26	0.87352	D	-3.04	0.62863	D	0.669	0.67736	0.313	0.87769	D	0.619	0.86568	D	10	0.5675964	0.65138	D	0.094739	0.76305	D	0.675	0.88013	.	.	0.803909800598	0.80207	0.5973824348196971	0.59669	0.675783368987	0.59728	0.800294876099	0.82006	T	0.841053	0.96293	D	0.0129589	0.53429	T	0.0897057	0.76225	D	0.286152046000347	0.24429	T	0.933807	0.75196	D	0.7358941	0.80058	0.41671294	0.65747	0.7358941	0.80060	0.41671294	0.65747	-8.93	0.67245	D	.	.	0.658	0.71249	P	.	.	4.965551	0.82135	27.7	0.99906040324896361	0.97651	0.94961	0.62935	D	AEFDBHCIJ	0.891440	0.82741	D	0.646701732627137	0.76155	6.434663	0.684438324513657	0.81199	7.470783	1.0	0.98316	0.645754	0.44609	0	0.573116	0.20632	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.641000	0.82513	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:1.0:0.0:0.0	19.724	0.96152	766	0.49742	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2484.83	171	chr6	7880237	.	C	T	2484.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=350;ExcessHet=0;FS=0.579;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.831;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	5	0	1	0
chr6	10874330	10874330	-	CTGGTAGGC	exonic	GCM2	.	nonframeshift insertion	GCM2:NM_004752:exon5:c.1185_1186insGCCTACCAG:p.Q395_P396insAYQ	Hyperparathyroidism 4, Autosomal dominant;Hypoparathyroidism, familial isolated, Autosomal dominant	0	1490	30	2	0	34	0.0112807	.	.	.	699240	GCM2-related_disorder|not_specified|Hyperparathyroidism_4|Hypoparathyroidism,_familial_isolated,_2|not_provided	.|MedGen:CN169374|MONDO:MONDO:0024570,MedGen:C4479229,OMIM:617343|MONDO:MONDO:0020798,MedGen:C5394383,OMIM:618883|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0.0002	0.0039	0	0	0.0013	0.0055	0.0014	0.0001423	22	154602	rs551375300	0.0013	0.0013	0.0012	0.0014	0.0154	0.0013	0.0012	0.0128	0.0119	0.0008	0.0038	0.0001	2.519e-05	0.0002	0.0154	0.0012	0.0025	0.0016	0.0011	0.0011	0.0012	0.0011	0.0033	0.0010	0.0010	0.0026	0.0023	0.0004	0	0.0033	0.0003	0	0	0.0170	0.0013	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4268.01	37	chr6	10874330	.	G	GCTGGTAGGC	4268.01	.	AC=2;AF=0.167;AN=12;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.15;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	5	1	0	0
chr6	12122289	12122289	G	C	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.G2494C:p.D832H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0299317586522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.003	0.76473	D	.	.	.	.	.	.	0.001759	0.38106	N	0.000000	1	0.81001	D	.	.	.	1.05	0.39990	T	-3.78	0.71519	D	0.836	0.83167	-0.7814	0.56224	T	0.235	0.60197	T	9	0.711081	0.73048	D	0.029932	0.52343	D	0.463	0.75956	0.229	0.15556	0.447589709634	0.44379	0.6567564013896295	0.65611	0.509262434929	0.49067	0.838412642479	0.87853	D	.	.	.	0.223765	0.76132	D	0.083647	0.75822	D	0.98434442281723	0.75685	D	0.921408	0.71494	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.79894	P	.;.	.;.	4.923677	0.81112	27.5	0.99613489441709957	0.74932	0.98434	0.82737	D	AEFBCI	0.874553	0.79748	D	0.922602696727024	0.92823	11.65002	0.925560470925783	0.96593	14.890	0.999999999999841	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	10.003000	0.99689	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	20.521	0.99225	494	0.76445	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1969.83	135	chr6	12122289	.	G	C	1969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.772;DP=322;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.74;SOR=0.772	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1217	5	0	1	0
chr6	16327660	16327660	-	TGCTGATGCTGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.650_651insTCAGCATCAGCATCAGCA:p.Q216_Q217insHQHQHQ,ATXN1:NM_000332:exon8:c.650_651insTCAGCATCAGCATCAGCA:p.Q216_Q217insHQHQHQ	Spinocerebellar ataxia 1, Autosomal dominant	5	1492	14	0	11	25	0.00466978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.056e-07	1.379e-06	0	1.421e-06	1.21e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.21e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	707.0	83	chr6	16327660	.	C	CTGCTGATGCTGATGCTGA	707.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=363;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=26.16;ReadPosRankSum=1.37;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:99:.:.:0,102,1530:.	5	1	0	0
chr6	16327687	16327687	C	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	9	1350	129	8	26	171	0.0509666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	628.0	65	chr6	16327687	.	C	*	628.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.495;DP=316;ExcessHet=0.4139;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.114;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:75:.:.:0,75,1125:.	5	0	1	0
chr6	16327687	16327687	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G624T:p.Q208H,ATXN1:NM_000332:exon8:c.G624T:p.Q208H	Spinocerebellar ataxia 1, Autosomal dominant	9	1350	129	8	26	171	0.0509666	.	.	.	207395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	0.129593	0.0012	0.0006	0	0.0034	0	0.0003	0	0.0052	0.0042432	656	154602	rs28555263	0.0024	0.0033	0.0020	0.0028	0.0413	0.0023	0.0023	0.0385	0.0374	0.0020	0.0105	9.142e-05	0.0413	0.0016	0.0021	0.0007	0.0029	0.0163	0.0047	0.0052	0.0045	0.0049	0.0532	0.0043	0.0042	0.0455	0.0425	0.0041	0	0.0123	0	0.0532	0.0012	0	0.0013	0.0041	0.0266	1.0	0.00964	T	0.01	0.65728	D	0.676	0.41315	P	0.216	0.37572	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.48	0.55945	T	-0.04	0.07590	N	0.158	0.16447	-1.0335	0.19332	T	0.023	0.09604	T	8	0.002439618	0.00036	T	.	.	.	0.033	0.08068	0.28	0.23483	0.682607719403	0.67990	0.441849011458685	0.44101	0.386732587604	0.39963	0.477701425552	0.35740	T	0.30731	0.67946	T	-0.152963	0.27848	T	-0.457497	0.26872	T	0.0109477398476624	0.00157	T	0.238176	0.03369	T	0.087811224	0.20463	0.13609241	0.32565	0.08371379	0.19343	0.12040363	0.29055	-6.185	0.47801	T	.	.	0.146	0.32372	B	.;.	.;.	0.680744	0.10493	7.208	0.85389799262407517	0.15863	0.04058	0.09507	N	AEFBI	0.032906	0.03805	N	-1.08606790521722	0.06900	0.3189316	-1.23499025871753	0.05357	0.2550339	0.0963838370192227	0.16251	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	0.046	0.046	0.13572	0.105000	0.15169	-0.463000	0.09027	0.115000	0.17631	0.374000	0.25957	0.001000	0.17328	0.084000	0.17470	.	.	.	709	0.56835	.;.	.	.	.	.	.	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	0.119243	0.230769	0.080822	0.094675	0.200000	0.078947	0.151899	0.100000	0.08333	628.0	65	chr6	16327687	.	C	A	628.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.495;DP=316;ExcessHet=0.4139;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=0.114;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:75:.:.:0,75,1125:.	5	0	1	0
chr6	20546466	20546466	G	A	exonic	CDKAL1	.	nonsynonymous SNV	CDKAL1:NM_017774:exon3:c.G116A:p.R39Q	.	432	1081	8	1	0	10	0.00460405	.	.	.	699472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.153	.	0.0071	0.00259585	0.0054	0.0009	0.0028	0.0001	0.0060	0.0075	0.0055	0.0041	0.0056144	868	154602	rs111739077	0.0079	0.0079	0.0080	0.0078	0.0091	0.0078	0.0077	0.0089	0.0089	0.0011	0.0031	0.0060	5.04e-05	0.0069	0.0052	0.0091	0.0062	0.0038	0.0057	0.0057	0.0062	0.0052	0.0092	0.0054	0.0053	0.0086	0.0084	0.0018	0	0.0038	0.0069	0.0006	0.0051	0.0034	0.0092	0.0043	0.0037	0.091	0.31834	T	0.135	0.41405	T	0.954	0.90584	P	0.415	0.86255	B	0.000000	0.84330	D	0.000000	0.993716	0.42029	D	.	.	.	0.93	0.44065	T	-1.31	0.32791	N	0.606	0.71232	-0.8298	0.53314	T	0.209	0.56852	T	10	0.006807238	0.00155	T	.	.	.	0.153	0.40148	.	.	0.313793572803	0.30980	0.5731763301366447	0.57245	0.93356521774	0.71938	0.409099698067	0.26332	T	0.303158	0.67553	T	-0.449014	0.01145	T	-0.406078	0.32680	T	0.0338944632766614	0.02619	T	0.918208	0.70605	D	0.14913969	0.34014	0.13883768	0.33145	0.17254993	0.37952	0.13883768	0.33144	-4.751	0.34962	T	.	.	0.144	0.31733	B	.;.;.	.;.;.	4.451304	0.69200	25.3	0.99924187557553368	0.98980	0.89815	0.50527	D	AEFDBCIJ	0.818165	0.73948	D	0.75231100433812	0.83055	7.918152	0.763805207817985	0.87184	9.135662	0.999999776469401	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.5	5.5	0.81386	7.952000	0.87328	11.781000	0.96113	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	19.592	0.95510	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.009511	0.008772	0.000000	0.000000	0.003049	0.000000	0.1667	1338.04	34	chr6	20546466	.	G	A	1338.04	.	AC=2;AF=0.167;AN=12;DP=218;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.12;SOR=1.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	5	1	0	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del	.	267	1249	4	2	0	8	0.00319234	.	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1032.79	39	chr6	21595020	.	CGGGGGCGGCCAT	C	1032.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.879;DP=262;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=-0.212;SOR=0.342	GT:AD:DP:GQ:PL	0/1:19,27:46:99:1043,0,705	5	0	1	0
chr6	22570118	22570120	GGC	-	exonic	HDGFL1	.	nonframeshift deletion	HDGFL1:NM_138574:exon1:c.543_545del:p.A188del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0163	.	0.0009	0	0	0.0029	0	0.0010	0.0125	0.0004	0.0001229	19	154602	rs751535761	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0008	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0.0002	0	0	0.0006	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	541.05	19	chr6	22570117	.	GGGC	G	541.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.426;DP=90;ExcessHet=0.4139;FS=1.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.868;SOR=0.853	GT:AD:DP:GQ:PL	0/0:1,0:4:33:123,126,168	5	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	503.44	70	chr6	24145554	.	C	G	503.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,5:63:12:.:.:0,49,952:.	5	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	503.44	70	chr6	24145554	.	C	T	503.44	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,12:63:12:.:.:0,12,923:.	3	0	3	0
chr6	24798766	24798766	C	T	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon1:c.G92A:p.R31H	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00812443099126	.	.	0.0005	0	0	0	.	0	0	0.0007	3.88e-05	6	154602	rs368555064	1.518e-05	1.436e-05	1.142e-05	1.905e-05	0.0002	9.76e-06	8.28e-06	8.652e-05	6.752e-05	0	5.604e-05	0	0	0	0	5.562e-06	1.728e-05	0.0002	2.63e-05	2.627e-05	3.856e-05	1.346e-05	7.247e-05	8.15e-06	5.14e-06	1.922e-05	1.033e-05	7.247e-05	0	6.554e-05	0	0	0	0	0	0	0	0.131	0.26629	T	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.02808	N	0.109	0.09490	.	.	.	.	.	.	.	0.025877774	0.00769	T	0.008124	0.21521	T	.	.	.	.	0.0297737177859	0.01360	0.057700648172295914	0.05711	.	.	.	.	.	0.002036	0.01442	T	-0.557139	0.00264	T	-0.740508	0.03869	T	.	.	.	0.278472	0.04815	T	0.01789173	0.00313	0.026950842	0.00814	0.01789173	0.00312	0.026950842	0.00814	-4.385	0.29353	T	.	.	0.067	0.02488	B	.	.	-0.957885	0.00833	0.028	0.86692863964731792	0.16708	0.00086	0.00577	N	AEFBI	0.023087	0.01240	N	.	.	.	.	.	.	0.999999996602138	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	-11.6	0.00045	-5.386000	0.00150	-8.140000	0.01021	-0.851000	0.02709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0815:0.1057:0.2574:0.5554	5.467	0.15945	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	695.83	34	chr6	24798766	.	C	T	695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=247;ExcessHet=0;FS=3.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.649;SOR=1.402	GT:AD:DP:GQ:PL	0/1:36,26:62:99:706,0,924	5	0	1	0
chr6	25770982	25770982	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon6:c.A676G:p.I226V,SLC17A4:NM_001286121:exon7:c.A514G:p.I172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00325108154751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377303426	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.025	0.47320	D	0.03	0.54159	D	0.001	0.07471	B	0.008	0.13708	B	0.526459	0.05232	N	1.283730	1	0.08975	N	0.685	0.16464	N	0.39	0.57419	T	-0.7	0.19933	N	0.173	0.18512	-1.0741	0.08535	T	0.022	0.09238	T	10	0.10363278	0.19062	T	0.003251	0.07177	T	0.131	0.35738	0.703	0.83962	0.211220785272	0.20719	0.20255652093873397	0.20172	0.064403949288	0.07180	0.257238537073	0.04567	T	0.065067	0.32594	T	-0.294487	0.09190	T	-0.660787	0.08214	T	0.0691507777275334	0.08532	T	0.215678	0.04576	T	0.10299597	0.24342	0.08127449	0.18457	0.10299597	0.24342	0.08127449	0.18457	-3.885	0.22077	T	.	.	0.073	0.04517	B	.;.	.;.	0.797823	0.11683	8.266	0.94008719930506524	0.24108	0.02786	0.07497	N	AEFBI	0.115808	0.22755	N	-1.33021435656782	0.03335	0.1487774	-1.40067729938232	0.03246	0.1510136	0.999504365187641	0.40062	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	-11.4	0.00070	-0.515000	0.06375	-2.264000	0.03979	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.1484:0.4544:0.2118:0.1854	3.228	0.06338	593	0.68665	.;Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.1667	2262.04	33	chr6	25770982	.	A	G	2262.04	.	AC=2;AF=0.167;AN=12;DP=251;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.28;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	5	1	0	0
chr6	26204863	26204863	C	G	exonic	H4C5	.	stopgain	H4C5:NM_003545:exon1:c.C219G:p.Y73X	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.928077	0.99441	44	0.99123972255232706	0.53063	0.87781	0.47438	D	ALL	0.057601	0.10743	N	0.480150507650931	0.65932	4.885117	0.214394271583764	0.50647	3.254474	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.2	2.2	0.26966	3.096000	0.49935	-0.225000	0.10728	0.596000	0.33519	1.000000	0.71638	0.574000	0.25587	0.371000	0.26133	0.0:1.0:0.0:0.0	12.403	0.54758	693	0.58582	.	.	.	.	.	.	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	3492.83	37	chr6	26204863	.	C	G	3492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=446;ExcessHet=0;FS=4.867;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.62;SOR=0.903	GT:AD:DP:GQ:PL	0/1:131,135:266:99:3503,0,3153	5	0	1	0
chr6	26234813	26234813	C	T	exonic	H1-3	.	nonsynonymous SNV	H1-3:NM_005320:exon1:c.G121A:p.V41I	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0046	0.00399361	0.0058	0.0010	0.0030	0.0039	0.0129	0.0055	0.0099	0.0100	0.0053557	828	154602	rs138815183	0.0053	0.0053	0.0051	0.0054	0.0093	0.0052	0.0051	0.0088	0.0086	0.0005	0.0032	0.0091	0.0034	0.0096	0.0066	0.0049	0.0055	0.0093	0.0047	0.0047	0.0042	0.0052	0.0097	0.0044	0.0043	0.0075	0.0067	0.0009	0	0.0029	0.0098	0.0060	0.0128	0.0068	0.0056	0.0033	0.0097	0.048	0.40068	D	0.158	0.31629	T	0.597	0.39250	P	0.627	0.51631	P	0.000087	0.51296	D	0.128541	0.997953	0.44355	D	1.585	0.39878	L	1.87	0.24085	T	-0.75	0.21003	N	0.34	0.38129	-1.0925	0.05128	T	0.076	0.30366	T	10	0.008906364	0.00202	T	.	.	.	0.152	0.39956	.	.	0.227260227426	0.22338	0.31057606082478634	0.30970	.	.	0.370933145285	0.20965	T	0.118648	0.43961	T	-0.330169	0.06099	T	-0.240076	0.50792	T	0.116874141626348	0.14120	T	0.89611	0.63771	D	0.25726968	0.48770	0.3600076	0.61450	0.25726968	0.48770	0.3600076	0.61449	-8.862	0.66804	D	.	.	0.267	0.50147	B	.	.	3.486283	0.48708	22.7	0.99815921418581843	0.89973	0.07595	0.13605	N	ALL	0.553990	0.56502	D	0.24476713358181	0.53380	3.50717	0.227451068667743	0.51377	3.320666	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.12	4.23	0.49319	2.698000	0.46736	2.481000	0.32940	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.013000	0.09966	0.0:0.9205:0.0:0.0795	13.726	0.62238	702	0.57624	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.010101	0.002717	0.002924	0.100000	0.000000	0.012195	0.003788	0.08333	793.83	39	chr6	26234813	.	C	T	793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.672;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.005;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	5	0	1	0
chr6	26240469	26240469	G	T	exonic	H4C6	.	nonsynonymous SNV	H4C6:NM_003540:exon1:c.G44T:p.G15V	.	62	1457	3	0	0	3	0.00102845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0652501661227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202987486	6.236e-06	6.156e-06	4.12e-06	8.39e-06	0.0004	2.93e-06	2.13e-06	6.155e-05	2.545e-05	0	0	0	0	0	0.0004	3.639e-06	5.042e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.059	0.45961	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-7.08	0.93927	D	0.859	0.85554	-0.3976	0.72103	T	0.318	0.68709	T	6	0.7756492	0.77436	D	0.06525	0.69523	D	.	.	0.184	0.09259	0.234412748748	0.23057	0.13861459206904642	0.13784	.	.	0.846327066422	0.89059	D	.	.	.	0.301214	0.83067	D	0.194896	0.82847	D	0.997942626476288	0.92822	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.966163	0.58200	24.0	0.97782995481559432	0.35944	0.38581	0.26020	N	ALL	0.861436	0.77950	D	0.331293335557105	0.57761	3.944815	0.326597348757125	0.57108	3.875481	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.48	4.48	0.53973	9.569000	0.97327	9.240000	0.79416	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	16.694	0.85189	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1743.83	117	chr6	26240469	.	G	T	1743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.746;DP=398;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.49;SOR=0.886	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr6	27401095	27401095	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T725C:p.I242T,ZNF391:NM_001322293:exon3:c.T725C:p.I242T,ZNF391:NM_001322288:exon4:c.T725C:p.I242T,ZNF391:NM_001322289:exon4:c.T725C:p.I242T	.	416	1090	14	2	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0002	0.00439297	0.0012	0.0001	0.0003	0.0077	0.0014	0.0002	0.0022	0.0028	0.001119	173	154602	rs58690463	0.0016	0.0016	0.0015	0.0017	0.0432	0.0016	0.0015	0.0414	0.0408	5.974e-05	0.0002	3.826e-05	0.0432	0.0011	0.0035	0.0002	0.0011	0.0032	0.0010	0.0010	0.0009	0.0012	0.0191	0.0009	0.0008	0.0160	0.0149	7.226e-05	0	0.0001	0	0.0191	0.0012	0	0.0003	0.0014	0.0029	0.395	0.10659	T	0.156	0.31833	T	0.999	0.77913	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	-1.01	0.01154	N	3.04	0.08810	T	-1.62	0.38924	N	0.106	0.09066	-1.0136	0.25784	T	0.008	0.02926	T	9	0.008790642	0.00199	T	.	.	.	0.157	0.40909	.	.	0.232513804876	0.22884	0.01728319909283035	0.01683	0.450892133838	0.44853	0.633433222771	0.57632	T	0.061051	0.31551	T	-0.682337	0.00046	T	-0.710412	0.05274	T	0.0445116463601758	0.04513	T	0.0707929	0.00516	T	0.05663609	0.11168	0.06492421	0.13085	0.05663609	0.11167	0.06492421	0.13084	-3.31	0.13866	T	.	.	0.705	0.73165	P	.	.	1.882060	0.23905	16.20	0.99214041864008651	0.55685	0.01138	0.04130	N	AEFGBHCI	0.032638	0.03724	N	-0.415014661257226	0.24942	1.350422	-0.535500767217852	0.21192	1.145254	7.81843071204859E-5	0.04552	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.01	1.61	0.22752	-0.246000	0.08896	0.290000	0.16862	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.919000	0.45453	0.1965:0.2262:0.0:0.5773	2.646	0.04683	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	1244.83	34	chr6	27401095	.	T	C	1244.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.14;DP=266;ExcessHet=0;FS=1.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.834;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1197	5	0	1	0
chr6	27401332	27401332	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T962C:p.I321T,ZNF391:NM_001322293:exon3:c.T962C:p.I321T,ZNF391:NM_001322288:exon4:c.T962C:p.I321T,ZNF391:NM_001322289:exon4:c.T962C:p.I321T	.	.	.	.	.	.	.	.	.	.	.	2300101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00154277054455	8e-05	.	2.486e-05	0	0	0	0.0002	3.001e-05	0	0	2.59e-05	4	154602	rs374936870	3.831e-05	3.831e-05	3.131e-05	4.538e-05	0.0002	3.025e-05	2.719e-05	2.995e-05	2.038e-05	0	2.236e-05	0	2.519e-05	0	0.0002	2.788e-05	0.0003	6.956e-05	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0004	2.111e-05	1.528e-05	7.293e-05	3.03e-05	2.416e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.616	0.05372	T	0.575	0.08654	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	1.19	0.37578	T	1.23	0.01037	N	0.08	0.05542	-0.9518	0.40660	T	0.008	0.02842	T	9	0.024014503	0.00646	T	0.001543	0.02420	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.017348818072048015	0.01689	0.170945335344	0.19261	0.460698544979	0.33406	T	0.013482	0.11655	T	-0.433514	0.01412	T	-0.678962	0.07047	T	0.00992272049256081	0.00132	T	0.130387	0.01025	T	0.018568318	0.00379	0.03926868	0.03981	0.018568318	0.00378	0.03926868	0.03981	-3.321	0.14010	T	.	.	0.316	0.54190	B	.	.	0.455212	0.08249	4.993	0.52101232043628887	0.04684	0.00985	0.03747	N	AEDBHCI	0.035766	0.04658	N	-1.56480820616184	0.01450	0.06326162	-1.5398935420102	0.02046	0.09354341	1.63777308997476E-4	0.05721	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	3.91	-3.57	0.04316	-0.785000	0.04735	-0.871000	0.07103	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.1463:0.3966:0.0:0.4571	4.943	0.13325	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	426.83	28	chr6	27401332	.	T	C	426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=199;ExcessHet=0;FS=1.311;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.231;SOR=1.049	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1197	5	0	1	0
chr6	27867079	27867079	C	A	exonic	H1-5	.	nonsynonymous SNV	H1-5:NM_005322:exon1:c.G451T:p.A151S	.	424	1061	36	0	1	37	0.0166821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0013	0.00678914	0.0063	0.0004	0.0013	0.0007	0.0002	0.0011	0.0110	0.0391	0.0054204	838	154602	rs145278803	0.0029	0.0029	0.0018	0.0041	0.0377	0.0029	0.0028	0.0366	0.0362	2.993e-05	0.0005	0.0062	0.0013	7.49e-05	0.0071	0.0005	0.0036	0.0377	0.0019	0.0019	0.0013	0.0024	0.0350	0.0017	0.0016	0.0307	0.0290	0.0003	0	0.0005	0.0052	0.0021	0.0002	0.0068	0.0008	0.0038	0.0350	0.459	0.08762	T	0.461	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.004793	0.33389	N	0.239133	0.999983	0.18198	N	-0.08	0.04796	N	2.42	0.15376	T	0.27	0.04306	N	0.174	0.18649	-0.9314	0.43933	T	0.005	0.01578	T	10	0.0012731254	0.00014	T	.	.	.	0.045	0.12272	.	.	0.158540857583	0.15491	0.0680979719865761	0.06747	0.00356511220385	0.00305	0.347121953964	0.17497	T	0.026524	0.19611	T	-0.588763	0.00171	T	-0.589925	0.13672	T	0.00960118568006993	0.00125	T	0.191481	0.02052	T	0.054947678	0.10612	0.051040016	0.08132	0.054947678	0.10611	0.051040016	0.08132	-6.708	0.51870	T	.	.	0.079	0.07507	B	.	.	1.074452	0.14567	11.13	0.90195530381334532	0.19470	0.00198	0.01140	N	AEFDBHCIJ	0.147822	0.27158	N	-0.932036297178994	0.10099	0.4810131	-0.848803464731251	0.13317	0.6901348	0.999999950206103	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.19	0.00442	0.13380	-0.182000	0.09720	-10.258000	0.00721	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.1976:0.3537:0.0:0.4487	3.023	0.05713	477	0.77662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.005435	0.020468	0.050000	0.000000	0.006098	0.015152	0.08333	545.83	43	chr6	27867079	.	C	A	545.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.771;DP=230;ExcessHet=0;FS=6.25;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.418;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	5	0	1	0
chr6	28153236	28153236	-	GAG	exonic	ZKSCAN8	.	nonframeshift insertion	ZKSCAN8:NM_001278122:exon6:c.395_396insGAG:p.R134_H135insR,ZKSCAN8:NM_006298:exon6:c.956_957insGAG:p.R321_H322insR,ZKSCAN8:NM_001278119:exon7:c.956_957insGAG:p.R321_H322insR,ZKSCAN8:NM_001278121:exon7:c.395_396insGAG:p.R134_H135insR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1146.79	40	chr6	28153236	.	A	AGAG	1146.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.31;DP=251;ExcessHet=0;FS=22.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.909;SOR=1.937	GT:AD:DP:GQ:PL	0/1:34,30:64:99:1157,0,1328	5	0	1	0
chr6	28329373	28329373	G	A	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.C311T:p.P104L,ZSCAN31:NM_001243241:exon2:c.C311T:p.P104L,ZSCAN31:NM_030899:exon2:c.C311T:p.P104L,ZSCAN31:NM_001135215:exon6:c.C311T:p.P104L,ZSCAN31:NM_145909:exon6:c.C311T:p.P104L	.	.	.	.	.	.	.	.	.	.	.	2363503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.00512351435775	7.7e-05	0.000199681	7.467e-05	0	0	0	0.0002	7.523e-05	0	0.0002	7.76e-05	12	154602	rs143813425	0.0001	0.0001	0.0001	0.0001	0.0005	8.916e-05	8.401e-05	0.0001	7.72e-05	2.988e-05	2.238e-05	0	2.519e-05	3.744e-05	0.0005	9.803e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	7.22e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.526	0.27194	T	0.258	0.92824	T	0.991	0.64070	D	0.811	0.58656	P	.	.	.	.	1	0.81001	D	1.68	0.43186	L	3.16	0.07711	T	-7.3	0.98325	D	0.214	0.26475	-1.1011	0.03961	T	0.035	0.15204	T	9	0.17798558	0.32861	T	0.005124	0.13001	T	0.161	0.41658	.	.	0.20549828249	0.20151	0.4156563661991281	0.41481	0.497875597415	0.48274	0.354321420193	0.18556	T	0.018128	0.43165	T	-0.382817	0.02990	T	-0.550998	0.17229	T	0.234556078687276	0.22167	T	0.906109	0.66926	D	0.23716168	0.46576	0.24524488	0.50008	0.23716168	0.46576	0.24524488	0.50007	-8.323	0.63250	D	.	.	0.403	0.63580	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.726650	0.21980	15.43	0.94926951600257736	0.25808	0.15933	0.19151	N	AEFBHCI	0.145430	0.26864	N	0.0922163218538058	0.46101	2.855688	-0.0852683616202427	0.35997	2.089455	0.320194401609838	0.19376	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	3.89	0.44098	1.298000	0.33017	2.034000	0.30268	0.596000	0.33519	0.762000	0.29265	0.955000	0.29136	0.520000	0.29475	0.0856:0.0:0.9144:0.0	12.127	0.53227	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1824.83	33	chr6	28329373	.	G	A	1824.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=300;ExcessHet=0;FS=10.022;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.93;SOR=0.314	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	5	0	1	0
chr6	28529562	28529562	G	A	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.G199A:p.V67I,GPX5:NM_003996:exon2:c.G199A:p.V67I	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00459265	0.0061	0.0011	0.0036	0.0117	0.0023	0.0068	0.0022	0.0070	0.0058925	911	154602	rs115051243	0.0051	0.0051	0.0048	0.0053	0.0104	0.0050	0.0050	0.0083	0.0075	0.0010	0.0041	0.0116	0.0054	0.0017	0.0104	0.0051	0.0057	0.0057	0.0044	0.0044	0.0044	0.0044	0.0081	0.0041	0.0040	0.0062	0.0058	0.0007	0	0.0043	0.0101	0.0081	0.0022	0.0068	0.0065	0.0061	0.0033	0.286	0.49117	T	0.165	0.92824	T	0.113	0.26349	B	0.118	0.32088	B	0.018170	0.27545	N	0.332419	0.997416	0.43869	D	2.335	0.66956	M	3.53	0.04852	T	-0.63	0.24898	N	0.309	0.39558	-1.1246	0.02060	T	0.044	0.18989	T	10	0.011705905	0.00255	T	.	.	.	0.111	0.31313	.	.	0.341460817117	0.33762	0.3074882919353545	0.30661	0.222269639404	0.24763	0.494943112135	0.38125	T	0.197752	0.55452	T	-0.482461	0.00715	T	-0.456403	0.26993	T	0.062341605650971	0.07533	T	.	.	.	0.070417956	0.15508	0.1399863	0.33383	0.070417956	0.15508	0.1399863	0.33382	-9.905	0.73341	D	.	.	0.124	0.26232	B	.;.	.;.	2.594325	0.33663	19.41	0.99857656066966582	0.93639	0.90399	0.51544	D	AEFBI	0.435410	0.49605	N	0.36256030562022	0.59407	4.119742	0.294472450407026	0.55217	3.684864	0.921980790944392	0.26692	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	2.84	0.32241	5.778000	0.68592	4.419000	0.43309	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1086:0.0:0.8914:0.0	9.439	0.37819	675	0.60470	.;.	.	.	.	.	rs115051243	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013115	0.005051	0.016304	0.005319	0.000000	0.017241	0.018405	0.019084	0.08333	707.83	34	chr6	28529562	.	G	A	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.175;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.727;SOR=0.699	GT:AD:DP:GQ:PL	0/1:46,32:78:99:718,0,1228	5	0	1	0
chr6	29396908	29396908	G	T	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.G209T:p.C70F	.	436	1026	55	3	2	63	0.0288689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	.	0.0053	0.00479233	0.0063	0.0012	0.0044	0.0002	0.0053	0.0065	0.0069	0.0130	0.005705	882	154602	rs36210740	0.0058	0.0058	0.0055	0.0062	0.0265	0.0057	0.0057	0.0231	0.0218	0.0017	0.0055	0.0119	7.557e-05	0.0045	0.0265	0.0053	0.0065	0.0141	0.0051	0.0051	0.0051	0.0052	0.0133	0.0048	0.0047	0.0107	0.0097	0.0017	0.0088	0.0056	0.0124	0.0002	0.0049	0.0102	0.0065	0.0071	0.0133	.	.	.	.	.	.	0.005	0.12996	B	0.008	0.13708	B	0.000217	0.47681	D	0.093597	0.999788	0.20372	N	0.915	0.23335	L	.	.	.	.	.	.	.	.	-0.7101	0.59947	T	0.229	0.59434	T	10	0.006487787	0.00147	T	.	.	.	.	.	.	.	.	.	0.17590871544809583	0.17509	.	.	0.250938415527	0.03867	T	0.008906	0.08144	T	-0.460558	0.00976	T	-0.422012	0.30845	T	0.0155577715639851	0.00353	T	0.59804	0.22252	T	0.17767172	0.38745	0.26035833	0.51798	0.17767172	0.38745	0.26035833	0.51797	-6.265	0.48445	T	.	.	0.105	0.19438	B	.;.	.;.	0.379155	0.07510	4.157	0.74111386093232068	0.10574	0.02074	0.06175	N	AEFBI	0.029282	0.02736	N	-0.758143495804165	0.14413	0.717744	-0.849903892683557	0.13290	0.6886131	9.24015489445909E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	2.22	0.27116	0.853000	0.27431	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.1475:0.6996:0.1529	10.202	0.42266	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2847.83	177	chr6	29396908	.	G	T	2847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=692;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.4;SOR=0.712	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	5	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.08333	37.83	99	chr6	29942795	.	C	T	37.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.825;DP=473;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.04;MQRankSum=-2.888;QD=0.38;ReadPosRankSum=3.21;SOR=0.687	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	5	0	1	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R,HLA-A:NM_002116:exon2:c.A200G:p.Q67R	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	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	.	.	.	.	.	Likely benign	0	0	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	0.041195	0.050505	0.065217	0.020000	0.050000	0.034483	0.012270	0.018939	0.08333	859.83	94	chr6	29942883	.	A	G	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.166;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-1.973;QD=11.62;ReadPosRankSum=0.168;SOR=0.688	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	5	0	1	0
chr6	30071367	30071367	G	A	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.C1007T:p.A336V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.880485665584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.085	0.41074	T	0.407	0.34981	B	0.224	0.37970	B	0.013140	0.28942	N	0.155825	1	0.81001	D	1.275	0.32135	L	-0.54	0.70950	T	-2.35	0.51968	N	0.147	0.14905	-0.9513	0.40747	T	0.127	0.43401	T	9	0.4637737	0.59445	T	0.880486	0.99089	D	0.183	0.45592	0.548	0.66296	0.33440975612	0.33058	0.5655930896728727	0.56486	2.3389385424	0.96749	0.913363754749	0.97778	D	0.078472	0.35898	T	-0.0246357	0.48190	T	-0.273164	0.47499	T	0.94021064043045	0.61235	D	.	.	.	0.06654733	0.14327	0.2163687	0.46262	0.06654733	0.14327	0.2163687	0.46261	-7.874	0.60208	D	.	.	0.603	0.69008	P	.	.	3.670673	0.52193	23.2	0.99912474620835889	0.98167	0.23914	0.22228	N	AEFDBCI	0.085157	0.17261	N	-0.255664839296382	0.30878	1.725932	-0.192395975394553	0.31814	1.804058	0.999940896871993	0.47345	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	4.54	4.54	0.55220	0.300000	0.18911	.	.	0.507000	0.23093	0.103000	0.22855	1.000000	0.68203	0.965000	0.52897	0.1031:0.0:0.8969:0.0	8.976	0.35100	862	0.33134	B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	544.83	46	chr6	30071367	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.637;DP=257;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-2.075;SOR=0.909	GT:AD:DP:GQ:PL	0/1:25,23:48:99:555,0,672	5	0	1	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.08333	1349.83	33	chr6	30137212	.	C	A	1349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.069;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.803;SOR=0.778	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	5	0	1	0
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.08333	1269.83	35	chr6	30552590	.	C	T	1269.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.38;DP=241;ExcessHet=0;FS=6.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.807;SOR=1.131	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr6	30986917	30986961	CCCTCCAGTGGGGCCGGCACAGCCACCAACTCTGAGTCCAGCACG	-	exonic	MUC21	.	nonframeshift deletion	MUC21:NM_001010909:exon2:c.742_786del:p.P248_T262del,MUC21:NM_001322371:exon3:c.742_786del:p.N250_S264del,MUC21:NM_001322370:exon4:c.742_786del:p.N250_P567delinsSGASTATNSDSSTVSSGASTATNSESSTTSSGASTATNSESSTTSSGASTATNSDSSTTSSGAGTATNSESSTVSSGISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSESSTVSSGASTATNSESSTTSSGVSTATNSESSTTSSGASTATNSDSSTTSSEASTATNSESSTVSSGISTVTNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTTSHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVYHPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP*	.	469	1008	16	1	28	46	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0006	0.0005	0.0002	0.0002	0.0004	0	6.108e-05	0.0002689	7	26028	rs757670775	0.0012	0.0016	0.0011	0.0012	0.0034	0.0011	0.0011	0.0029	0.0027	0.0027	0.0034	0.0035	0.0030	0.0010	0.0009	0.0009	0.0019	0.0009	0.0027	0.0031	0.0029	0.0024	0.0035	0.0024	0.0023	0.0026	0.0023	0.0029	0.0014	0.0035	0.0026	0.0020	0.0031	0.0065	0.0025	0.0035	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7434.05	308	chr6	30986916	.	ACCCTCCAGTGGGGCCGGCACAGCCACCAACTCTGAGTCCAGCACG	A	7434.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.899;DP=1695;ExcessHet=0.4139;FS=0.569;MLEAC=1;MLEAF=0.083;MQ=56.26;MQRankSum=-0.678;QD=9.43;ReadPosRankSum=2.03;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	30986917	30986917	C	0	exonic	MUC21	.	.	.	.	464	909	105	3	41	152	0.0575428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2976.0	296	chr6	30986917	.	C	*	2976.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=1620;ExcessHet=0.4139;FS=1.097;MLEAC=1;MLEAF=0.083;MQ=56.22;MQRankSum=-2.909;QD=5.08;ReadPosRankSum=0.323;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	30986918	30986918	C	0	exonic	MUC21	.	.	.	.	455	948	112	3	4	122	0.0585899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1631.04	296	chr6	30986918	.	C	*	1631.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.46;DP=1623;ExcessHet=0.4139;FS=1.143;MLEAC=1;MLEAF=0.083;MQ=56.15;MQRankSum=-2.539;QD=2.32;ReadPosRankSum=0.646;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	30986919	30986919	C	0	exonic	MUC21	.	.	.	.	455	949	112	2	4	120	0.0575968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1564.04	297	chr6	30986919	.	C	*	1564.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.41;DP=1614;ExcessHet=0.4139;FS=1.801;MLEAC=1;MLEAF=0.083;MQ=56.12;MQRankSum=-2.554;QD=2.25;ReadPosRankSum=0.56;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	30986932	30986932	G	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6711.03	329	chr6	30986932	.	G	*	6711.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.39;DP=1619;ExcessHet=0.4139;FS=0.517;MLEAC=1;MLEAF=0.083;MQ=55.94;MQRankSum=-3.535;QD=9.41;ReadPosRankSum=-0.464;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	30986937	30986937	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	810.04	338	chr6	30986937	.	A	*	810.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.425;DP=1621;ExcessHet=0.4139;FS=0.568;MLEAC=1;MLEAF=0.083;MQ=56.04;MQRankSum=-3.75;QD=1.12;ReadPosRankSum=0.924;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr6	31025858	31025858	A	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A427G:p.I143V,MUC22:NM_001318484:exon3:c.A436G:p.I146V,MUC22:NM_001322469:exon3:c.A436G:p.I146V	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0209665	0.0039	0	0.0326	0.0417	.	0.0029	0.0167	0.0031	0.0026843	415	154602	rs78457009	0.0090	0.0086	0.0093	0.0088	0.0497	0.0089	0.0089	0.0478	0.0470	0.0020	0.0396	0.0007	0.0497	0.0147	0.0021	0.0075	0.0076	0.0031	0.0096	0.0096	0.0090	0.0102	0.0325	0.0092	0.0090	0.0301	0.0292	0.0024	0.0186	0.0325	0.0006	0.0309	0.0140	0.0034	0.0073	0.0118	0.0025	0.0	0.91255	D	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.61	0.13095	T	-0.09	0.08340	N	0.055	0.02658	.	.	.	.	.	.	.	0.0026974082	0.00042	T	.	.	.	.	.	.	.	.	.	0.003769958394675259	0.00352	.	.	0.152525603771	0.00005	T	0.005011	0.04439	T	-0.709629	0.00032	T	-0.73946	0.03913	T	.	.	.	0.357564	0.08149	T	0.058027174	0.11622	0.06386885	0.12716	0.058027174	0.11621	0.06386885	0.12716	-2.441	0.05390	T	.	.	0.073	0.04764	B	.	.	-0.964888	0.00822	0.028	0.13935122801748498	0.00291	0.00121	0.00759	N	AEFBI	0.013185	0.00167	N	.	.	.	.	.	.	0.031256151838067	0.13991	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.47	-2.65	0.05739	-0.772000	0.04800	.	.	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4559:0.0:0.5441:0.0	7.866	0.28699	929	0.16858	.	.	.	.	.	rs117948763	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004706	0.000000	0.004000	0.000000	0.000000	0.000000	0.010753	0.009259	0.08333	3736.83	248	chr6	31025858	.	A	G	3736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.78;DP=1525;ExcessHet=0;FS=3.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.134;SOR=0.908	GT:AD:DP:GQ:PL	0/0:291,0:291:99:0,120,1800	5	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6609.04	475	chr6	31026275	.	A	*	6609.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.096;DP=2099;ExcessHet=0.4139;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.221;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:431,0:431:99:.:.:0,120,1800:.	5	0	1	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10450.0	372	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	10450.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=2926;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.88;MQRankSum=-0.161;QD=28.95;ReadPosRankSum=1.75;SOR=0.58	GT:AD:DP:GQ:PL	0/0:596,0:596:99:0,120,1800	5	1	0	0
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	710398	not_provided|CDSN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000533	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.08333	707.83	78	chr6	31116313	.	G	T	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.77;DP=323;ExcessHet=0;FS=5.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.774;SOR=1.274	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	5	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.08333	1498.83	61	chr6	31138459	.	G	A	1498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.81;DP=364;ExcessHet=0;FS=1.544;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.543;SOR=0.904	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	5	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.08333	1332.83	120	chr6	31270002	.	C	T	1332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.362;DP=770;ExcessHet=0;FS=2.351;MLEAC=1;MLEAF=0.083;MQ=58.88;MQRankSum=-1.007;QD=11.11;ReadPosRankSum=0.236;SOR=0.499	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	5	0	1	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.08333	729.83	50	chr6	31270250	.	C	A	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.258;DP=365;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=46.7;MQRankSum=1.25;QD=14.6;ReadPosRankSum=0.136;SOR=1.27	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	5	0	1	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E,HLA-C:NM_002117:exon3:c.C610G:p.Q204E	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	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	0.003788	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	93.83	104	chr6	31271082	.	G	C	93.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.734;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-6.979;QD=0.82;ReadPosRankSum=-1.76;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	5	0	1	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D,HLA-C:NM_002117:exon3:c.G603C:p.E201D	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007559	0.010101	0.013587	0.009709	0.000000	0.000000	0.003049	0.003788	0.08333	106.83	104	chr6	31271089	.	C	G	106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.692;DP=542;ExcessHet=0;FS=1.245;MLEAC=1;MLEAF=0.083;MQ=55.94;MQRankSum=-6.741;QD=0.9;ReadPosRankSum=-1.051;SOR=0.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	5	0	1	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1667	2533.06	104	chr6	31271103	.	C	T	2533.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.696;DP=578;ExcessHet=0.4139;FS=3.583;MLEAC=2;MLEAF=0.167;MQ=53.16;MQRankSum=1.64;QD=14.07;ReadPosRankSum=1.19;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,20:72:99:.:.:667,0,2071:.	4	0	2	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	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	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.08333	535.83	118	chr6	31271120	.	C	G	535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.307;DP=624;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.083;MQ=50.29;MQRankSum=1.02;QD=4.54;ReadPosRankSum=1.96;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	5	0	1	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5861.45	111	chr6	31271153	.	A	*	5861.45	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=616;ExcessHet=0.7136;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=50.84;MQRankSum=-4.162;QD=15.15;ReadPosRankSum=-0.807;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:64:99:.:.:924,1041,2679:.	5	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	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	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1332.09	139	chr6	31355338	.	T	C	1332.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.36;DP=752;ExcessHet=0.4139;FS=0.922;MLEAC=2;MLEAF=0.167;MQ=57.59;MQRankSum=-8.593;QD=4.72;ReadPosRankSum=1.97;SOR=0.626	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,23:176:99:.:.:225,0,4719:.	1	0	5	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	Likely benign	0	0	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	0.038961	0.025253	0.024457	0.025000	0.050000	0.060345	0.064024	0.068182	0.08333	343.83	183	chr6	31355485	.	G	A	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=990;ExcessHet=0;FS=22.36;MLEAC=1;MLEAF=0.083;MQ=58.07;MQRankSum=-11.22;QD=2.22;ReadPosRankSum=-0.561;SOR=2.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:188,0:188:99:.:.:0,120,1800:.	5	0	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	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	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.08333	82.83	91	chr6	31356197	.	C	T	82.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.296;DP=391;ExcessHet=0;FS=5.552;MLEAC=1;MLEAF=0.083;MQ=47.18;MQRankSum=-1.209;QD=2.86;ReadPosRankSum=0.728;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,120,1800:.	5	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10621.8	127	chr6	31356247	.	C	*	10621.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=542;ExcessHet=1.383;FS=1.94;MLEAC=2;MLEAF=0.167;MQ=48.46;MQRankSum=-0.988;QD=19.93;ReadPosRankSum=0.437;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:25,0:128:99:0|1:31356247_C_A:4164,4240,5289:31356247	4	0	2	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1898.64	36	chr6	31356431	.	G	*	1898.64	.	AC=4;AF=0.333;AN=12;DP=258;ExcessHet=1.383;FS=0.513;MLEAC=4;MLEAF=0.333;MQ=55.96;QD=7.45;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,17:56:99:0|1:31356417_G_A:596,0,1577:31356417	2	0	4	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:31356711_C_CGGAG:713,0,1703:31356711	1	2	3	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5091.76	68	chr6	31356717	.	AGGT	*	5091.76	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=307;ExcessHet=3.1439;FS=9.714;MLEAC=1;MLEAF=0.083;MQ=54.34;MQRankSum=-6.354;QD=16.59;ReadPosRankSum=-1.043;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:43,0:65:99:0|1:31356711_C_CGGAG:780,909,2711:31356711	5	0	1	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,22:65:99:0|1:31356711_C_CGGAG:780,0,1735:31356711	1	2	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:31356711_C_CGGAG:3940,265,0:31356711	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,70:130:99:0|1:31356711_C_CGGAG:5459,2500,2285:31356711	0	3	3	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	881.01	55	chr6	31412383	.	TG	*	881.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.062;DP=316;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.447;SOR=0.737	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7740.85	55	chr6	31412384	.	G	*	7740.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=321;ExcessHet=1.383;FS=1.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=0.664;SOR=0.845	GT:AD:DP:GQ:PL	0/0:23,0:52:99:1114,1183,2118	4	0	2	0
chr6	31415054	31415054	C	T	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon7:c.C1067T:p.T356M	.	420	1061	41	0	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0135783	0.0114	0.0015	0.0041	0.0422	0.0113	0.0093	0.01	0.0146	0.0105238	1627	154602	rs41546114	0.0088	0.0089	0.0085	0.0091	0.0481	0.0086	0.0086	0.0462	0.0455	0.0012	0.0046	0.0016	0.0481	0.0118	0.0090	0.0072	0.0069	0.0152	0.0080	0.0080	0.0073	0.0087	0.0348	0.0076	0.0075	0.0307	0.0291	0.0017	0.0044	0.0081	0.0020	0.0348	0.0133	0.0034	0.0089	0.0095	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013072	0.005051	0.001359	0.021277	0.100000	0.017241	0.024390	0.018939	0.08333	1890.83	81	chr6	31415054	.	C	T	1890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=498;ExcessHet=0;FS=4.613;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.124;SOR=1.04	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	5	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,20:111:99:0|1:31625601_T_C:212,0,3119:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,20:111:99:0|1:31625601_T_C:212,0,3119:31625601	0	0	6	0
chr6	31634877	31634877	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon21:c.C5060T:p.P1687L,PRRC2A:NM_080686:exon21:c.C5060T:p.P1687L	.	424	1097	1	0	0	1	0.000455581	.	.	.	3210601	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0122031471285	0.0007	0.000998403	0.0022	0.0001	0.0004	0	0.0100	0.0029	0.0035	0	0.0020828	322	154602	rs115464946	0.0016	0.0016	0.0017	0.0016	0.0014	0.0016	0.0015	0.0014	0.0014	0.0002	0.0006	0.0001	0	0.0122	0.0003	0.0014	0.0015	0	0.0020	0.0020	0.0017	0.0024	0.0022	0.0018	0.0018	0.0019	0.0018	0.0002	0.0033	0.0008	0	0	0.0124	0	0.0022	0.0028	0	0.025	0.47320	D	0.004	0.74150	D	0.839	0.46454	P	0.351	0.42849	B	0.000660	0.42656	D	0.107038	0.999702	0.48408	D	0.805	0.20218	L	4.6	0.01868	T	-1.53	0.37178	N	0.246	0.31814	-0.7922	0.55601	T	0.006	0.01907	T	10	0.006285906	0.00142	T	0.012203	0.30559	T	0.092	0.26621	.	.	0.043077524339	0.03247	0.4989661120455982	0.49817	0.159160048467	0.17961	0.587375283241	0.51124	T	0.007178	0.06595	T	-0.527671	0.00396	T	-0.536287	0.18662	T	0.0205908046288077	0.00759	T	0.880912	0.59977	D	0.103965156	0.24574	0.08780793	0.20434	0.103965156	0.24574	0.08780793	0.20433	-4.072	0.24876	T	.	.	0.103	0.19598	B	.;.	.;.	4.171365	0.62719	24.5	0.95583805663741628	0.27294	0.96406	0.68982	D	AEFDBHCI	0.476474	0.51987	N	0.378193423557861	0.60241	4.211011	0.450815582522729	0.64767	4.739883	0.999999525820232	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	1.764000	0.38100	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	14.454	0.66981	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000545	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1312.83	36	chr6	31634877	.	C	T	1312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=285;ExcessHet=0;FS=2.769;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.69;SOR=0.584	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	5	0	1	0
chr6	31659104	31659104	C	T	exonic	C6orf47	.	nonsynonymous SNV	C6orf47:NM_021184:exon1:c.G844A:p.E282K	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00589343319346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035256936	3.423e-06	4.104e-06	1.362e-06	5.504e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.072	0.34982	T	0.298	0.20486	T	0.033	0.20350	B	0.027	0.21085	B	0.052796	0.22864	N	0.386550	0.99064	0.24145	N	1.245	0.31408	L	1.0	0.41392	T	-2.74	0.58248	D	0.169	0.17966	-1.0538	0.13359	T	0.045	0.19356	T	10	0.07083699	0.10361	T	0.005893	0.15340	T	0.037	0.09474	.	.	0.238096912614	0.23440	0.09539720249146658	0.09471	0.35609624487	0.37361	.	.	.	0.010537	0.09506	T	-0.201299	0.20618	T	-0.511443	0.21168	T	0.81723815202713	0.47568	D	0.628837	0.24395	T	0.07021855	0.15448	0.16867372	0.38844	0.07021855	0.15447	0.16867372	0.38843	-5.105	0.37960	T	.	.	0.091	0.12985	B	.	.	3.042394	0.40790	21.2	0.99331196730854221	0.59777	0.25057	0.22584	N	AEFDBCI	0.075019	0.15053	N	-0.311262385525933	0.28720	1.586425	-0.219821527051205	0.30825	1.739024	0.999999873367174	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	5.57	4.67	0.58089	1.651000	0.36918	.	.	0.592000	0.32167	0.045000	0.21207	0.025000	0.21018	0.830000	0.39126	0.0:0.8917:0.0:0.1083	9.069	0.35645	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	914.83	35	chr6	31659104	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.456;DP=244;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.141;SOR=0.984	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1105	5	0	1	0
chr6	31724618	31724618	C	T	exonic	MPIG6B	.	nonsynonymous SNV	MPIG6B:NM_025260:exon4:c.C532T:p.P178S,MPIG6B:NM_138272:exon4:c.C532T:p.P178S,MPIG6B:NM_138277:exon4:c.C532T:p.P178S	.	420	1089	13	0	0	13	0.00593336	.	.	.	699523	not_provided|MPIG6B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0011	0.0141773	0.0063	0.0003	0.0042	0.0185	0.0159	0.0024	0.0088	0.0170	0.0058085	898	154602	rs150417881	0.0030	0.0030	0.0027	0.0034	0.0159	0.0030	0.0029	0.0152	0.0149	0.0002	0.0036	0.0003	0.0096	0.0146	0.0036	0.0013	0.0039	0.0159	0.0034	0.0034	0.0027	0.0041	0.0226	0.0031	0.0031	0.0193	0.0180	0.0003	0	0.0031	0	0.0226	0.0132	0	0.0014	0.0019	0.0203	0.139	0.25979	T	0.0	0.92824	D	0.291	0.32334	B	0.214	0.37471	B	0.008721	0.30696	N	0.152218	0.552674	0.32146	D	.	.	.	0.87	0.46412	T	-4.27	0.76254	D	0.26	0.32481	-1.0354	0.18731	T	0.033	0.13986	T	8	0.0045332313	0.00094	T	.	.	.	0.012	0.01476	.	.	0.190952846119	0.18690	0.5494887875273428	0.54874	0.517718159117	0.49631	.	.	.	0.059697	0.35040	T	-0.513222	0.00481	T	-0.489035	0.23493	T	0.0161723580370317	0.00392	T	0.576842	0.21138	T	0.08314755	0.19188	0.15560047	0.36467	0.07525576	0.16941	0.15560047	0.36466	-4.047	0.27740	T	.	.	0.151	0.34689	B	.;.;.;.;.	.;.;.;.;.	1.552707	0.19898	14.49	0.90035662969182439	0.19323	0.06416	0.12420	N	AEFBCI	0.049036	0.08432	N	-0.498600615564328	0.22126	1.179288	-0.505614062870388	0.22000	1.192836	0.999998404440637	0.74766	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.12	3.26	0.36471	0.726000	0.25653	.	.	0.549000	0.26987	0.234000	0.24685	0.910000	0.28117	0.265000	0.23644	0.0:0.7596:0.0:0.2404	6.309	0.20364	889	0.27310	.;.;.;.;.	.	.	.	.	.	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	0.001089	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1238.83	39	chr6	31724618	.	C	T	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=282;ExcessHet=0;FS=5.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.253;SOR=0.592	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1295	5	0	1	0
chr6	31733568	31733568	T	C	exonic	CLIC1	.	nonsynonymous SNV	CLIC1:NM_001288:exon4:c.A380G:p.D127G,CLIC1:NM_001287593:exon5:c.A380G:p.D127G,CLIC1:NM_001287594:exon5:c.A380G:p.D127G	.	437	1075	10	0	0	10	0.00462963	0.0711	0.358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	.	0.0005	0.00559105	0.0026	0.0001	0.0018	0.0002	0.0020	0.0005	0.0023	0.0143	0.0022768	352	154602	rs151059852	0.0013	0.0013	0.0009	0.0016	0.0134	0.0012	0.0012	0.0128	0.0125	0.0001	0.0011	3.828e-05	7.559e-05	0.0014	0.0029	0.0004	0.0016	0.0134	0.0010	0.0010	0.0007	0.0014	0.0157	0.0009	0.0008	0.0129	0.0119	4.812e-05	0	0.0018	0	0.0004	0.0013	0	0.0005	0.0005	0.0157	0.023	0.48186	D	0.027	0.55341	D	0.007	0.14184	B	0.032	0.22131	B	0.014296	0.28577	U	0.267267	0.99998	0.54805	D	1.845	0.48678	L	-3.42	0.94348	D	-2.59	0.55821	D	0.166	0.17553	0.400	0.89089	D	0.697	0.89554	D	10	0.005486667	0.00121	T	.	.	.	0.347	0.66863	.	.	0.969174787958	0.96884	0.5720687258347609	0.57134	0.611611360637	0.55790	0.446651995182	0.31487	T	0.576593	0.86068	D	-0.256282	0.13338	T	-0.129877	0.60983	T	0.0378625345386181	0.03308	T	.	.	.	0.6046307	0.72940	0.34746644	0.60400	0.6046307	0.72941	0.34746644	0.60400	-4.711	0.33537	T	.	.	0.104	0.18991	B	.;.;.;.;.	.;.;.;.;.	3.949494	0.57854	23.9	0.9924041510822682	0.56533	0.93097	0.57320	D	AEFBCI	0.546915	0.56082	D	-0.063863049582585	0.38986	2.291878	0.0453033912566245	0.41846	2.520833	0.999999888756316	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	4.25	0.49658	1.463000	0.34887	.	.	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.2044:0.7956	10.300	0.42829	889	0.27310	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	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	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	902.83	34	chr6	31733568	.	T	C	902.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=251;ExcessHet=0;FS=1.853;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.22;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	5	0	1	0
chr6	31760142	31760142	T	G	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon19:c.T1738G:p.C580G,MSH5:NM_025259:exon19:c.T1789G:p.C597G,MSH5:NM_172165:exon19:c.T1738G:p.C580G,MSH5:NM_172166:exon19:c.T1738G:p.C580G	.	416	1094	11	1	0	13	0.00590641	.	.	.	699524	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.486	0.0289692793921	0.0011	0.00279553	0.0013	0	0.0004	0.0003	0	0.0014	0.0012	0.0036	0.0012742	197	154602	rs45468693	0.0014	0.0014	0.0013	0.0014	0.0033	0.0013	0.0013	0.0028	0.0027	0.0002	0.0009	0.0010	0.0001	1.875e-05	0.0033	0.0014	0.0015	0.0031	0.0010	0.0010	0.0009	0.0010	0.0031	0.0008	0.0008	0.0019	0.0015	0.0002	0	0.0013	0.0009	0.0004	0	0	0.0014	0.0005	0.0031	0.024	0.51248	D	0.083	0.59159	T	0.029	0.19866	B	0.079	0.28749	B	0.000000	0.84330	D	0.040531	.	.	.	1.15	0.29295	L	-1.94	0.84919	D	-0.99	0.26200	N	0.452	0.50056	-0.4739	0.69587	T	0.296	0.66782	T	9	0.009291381	0.00210	T	0.028969	0.51559	D	0.486	0.77464	.	.	0.890742083621	0.88966	0.760612750991907	0.76009	0.621859587024	0.56468	.	.	.	0.139744	0.47392	T	-0.149972	0.28314	T	0.00843498	0.70881	D	0.0462700772073915	0.04833	T	.	.	.	0.5883668	0.72062	0.4820372	0.70008	0.5883668	0.72063	0.4820372	0.70008	-7.521	0.57822	D	.	.	0.132	0.28464	B	.;.;.;.;.	.;.;.;.;.	3.289429	0.45108	22.1	0.95993139600309219	0.28394	0.93247	0.57710	D	AEFGBI	0.769572	0.70479	D	0.00639656750513937	0.42146	2.534	0.177582743651184	0.48621	3.075596	0.999345140235583	0.39222	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	3.46	0.38718	4.917000	0.63068	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.2907:0.0:0.0:0.7093	9.218	0.36519	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002179	0.000000	0.001359	0.005319	0.000000	0.000000	0.000000	0.003788	0.08333	1528.83	103	chr6	31760142	.	T	G	1528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=284;ExcessHet=0;FS=3.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.95;SOR=1.107	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1263	5	0	1	0
chr6	31791962	31791962	C	G	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon7:c.G881C:p.G294A	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00519169	0.0030	0.0001	0.0021	0.0003	0.0018	0.0007	0.0031	0.0202	0.0020569	318	154602	rs5030796	0.0012	0.0012	0.0009	0.0016	0.0131	0.0012	0.0011	0.0124	0.0122	0.0001	0.0011	4.071e-05	7.62e-05	0.0015	0.0024	0.0004	0.0016	0.0131	0.0010	0.0010	0.0006	0.0014	0.0153	0.0009	0.0008	0.0125	0.0115	4.816e-05	0	0.0018	0	0.0004	0.0012	0	0.0005	0.0005	0.0153	0.297	0.14645	T	0.529	0.10138	T	0.032	0.20242	B	0.021	0.19346	B	0.000058	0.53742	N	0.166846	0.766452	0.81001	D	1.99	0.53851	M	3.71	0.04046	T	-1.77	0.41809	N	0.221	0.24758	-0.9991	0.30171	T	0.008	0.02884	T	10	0.0037677288	0.00070	T	.	.	.	0.056	0.15993	.	.	0.297458270211	0.29361	0.18542726824016895	0.18460	0.503665280906	0.48679	0.419512480497	0.27769	T	0.008796	0.08052	T	-0.617147	0.00114	T	-0.648235	0.09078	T	0.0201042136741827	0.00711	T	.	.	.	0.08465493	0.19604	0.15540867	0.36431	0.08332834	0.19237	0.2030327	0.44359	-5.94	0.45775	T	.	.	0.096	0.15520	B	.	.	2.323710	0.29762	18.22	0.97458243839235814	0.34069	0.84653	0.43738	D	AEFDBCI	0.395459	0.47231	N	-0.167606395630363	0.34489	1.969138	-0.031778582099664	0.38288	2.25364	0.999999996264906	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.42	4.54	0.55220	2.623000	0.46101	.	.	0.544000	0.25403	0.401000	0.26178	0.999000	0.35428	0.970000	0.54328	0.0:0.8466:0.1534:0.0	13.955	0.63653	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000546	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	697.83	34	chr6	31791962	.	C	G	697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.001;DP=227;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.337;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1238	5	0	1	0
chr6	31889267	31889267	G	A	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon8:c.C1246T:p.R416W,EHMT2:NM_001363689:exon8:c.C1246T:p.R416W,EHMT2:NM_001318833:exon9:c.C448T:p.R150W,EHMT2:NM_006709:exon9:c.C1075T:p.R359W,EHMT2:NM_025256:exon9:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	3241906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0492907288026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs973080045	6.851e-07	1.368e-06	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.313e-05	1.312e-05	0	2.686e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.948	0.71173	D	0.048451	0.23250	N	0.282420	0.998087	0.44492	D	0	0.06538	N	1.16	0.38073	T	-3.96	0.77143	D	0.739	0.73916	-1.0316	0.19937	T	0.092	0.35092	T	10	0.3220681	0.49561	T	0.049291	0.63750	D	0.190	0.46781	0.162	0.06618	0.659894536258	0.65704	0.5401007565999129	0.53935	1.4130296316	0.85478	0.847793459892	0.89280	D	0.349466	0.71731	T	0.0341844	0.56280	T	-0.188673	0.55713	T	0.875190269605958	0.52505	D	.	.	.	0.084006555	0.19423	0.09876533	0.23557	0.084006555	0.19423	0.09876533	0.23557	-12.707	0.89256	D	.	.	0.862	0.80393	P	.;.;.;.	.;.;.;.	4.433474	0.68776	25.3	0.9991460369569708	0.98309	0.79214	0.39210	D	AEFDGBHCI	0.265210	0.38238	N	0.28731671970423	0.55504	3.714537	0.244286981888216	0.52325	3.408096	0.999998781611806	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.18	4.25	0.49658	1.018000	0.29604	.	.	0.676000	0.76740	0.336000	0.25640	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.6803:0.3197	10.180	0.42137	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1501.83	90	chr6	31889267	.	G	A	1501.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=276;ExcessHet=0;FS=6.926;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.808;SOR=1.051	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1291	5	0	1	0
chr6	31889595	31889595	A	G	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon7:c.T1043C:p.V348A,EHMT2:NM_001363689:exon7:c.T1043C:p.V348A,EHMT2:NM_001318833:exon8:c.T245C:p.V82A,EHMT2:NM_006709:exon8:c.T872C:p.V291A,EHMT2:NM_025256:exon8:c.T872C:p.V291A	.	387	1131	3	1	0	5	0.00220556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00633997664248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220147944	2.742e-06	2.736e-06	2.729e-06	2.756e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	1.321e-05	1.316e-05	0	2.707e-05	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.237	0.17881	T	0.726	0.05901	T	0.001	0.07471	B	0.0	0.04355	B	0.036116	0.24562	N	0.335556	0.859869	0.28372	N	0	0.06538	N	3.21	0.07125	T	-0.62	0.18248	N	0.22	0.28146	-0.9123	0.46569	T	0.003	0.00897	T	10	0.056655318	0.06385	T	0.00634	0.16668	T	0.037	0.09474	0.187	0.09646	0.347879110917	0.34393	0.1427687485542135	0.14199	0.595470038845	0.54820	0.711682975292	0.68837	T	0.031145	0.21906	T	-0.273272	0.11395	T	-0.630313	0.10391	T	0.121008246690478	0.14528	T	.	.	.	0.03918023	0.05362	0.08808688	0.20516	0.03918023	0.05362	0.08808688	0.20515	-2.251	0.04490	T	.	.	0.082	0.29422	B	.;.;.;.	.;.;.;.	2.637520	0.34311	19.59	0.95055072778498539	0.26077	0.65229	0.32667	D	AEFBHCI	0.069769	0.13823	N	-0.710715667522351	0.15719	0.794699	-0.488355996548023	0.22473	1.220823	0.995759009102692	0.34306	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	2.98	0.33575	2.967000	0.48908	.	.	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.7093:0.0:0.2907:0.0	4.765	0.12500	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	883.83	70	chr6	31889595	.	A	G	883.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.138;DP=255;ExcessHet=0;FS=1.986;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.42;SOR=0.745	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1291	5	0	1	0
chr6	31972121	31972121	C	T	exonic	STK19	.	nonsynonymous SNV	STK19:NM_032454:exon1:c.C125T:p.A42V	.	.	.	.	.	.	.	.	.	.	.	2822905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0032	0.00319489	0.0041	0.0004	0.0014	0	0.0105	0.0058	0.0046	0.0013	0.0039068	604	154602	rs80001134	0.0037	0.0037	0.0037	0.0037	0.0040	0.0036	0.0036	0.0039	0.0039	0.0008	0.0015	0.0033	0	0.0099	0	0.0040	0.0030	0.0011	0.0037	0.0037	0.0036	0.0038	0.0055	0.0034	0.0033	0.0050	0.0048	0.0005	0	0.0027	0.0023	0	0.0100	0	0.0055	0.0038	0.0008	0.0	0.91255	D	0.751	0.13441	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999929	0.19486	N	0.205	0.09354	N	0.57	0.54347	T	-3.78	0.71519	D	0.124	0.11626	-1.0207	0.23486	T	0.027	0.11663	T	9	0.004273206	0.00086	T	.	.	.	0.069	0.20116	.	.	0.213573922156	0.20996	0.03549893132641255	0.03496	0.527222463121	0.50326	0.45849943161	0.33105	T	0.00209	0.01499	T	-0.489074	0.00657	T	-0.470872	0.25423	T	0.0385569975504807	0.03430	T	0.490351	0.15073	T	0.025932401	0.01589	0.08875417	0.20714	0.034199826	0.03791	0.08840846	0.20612	-4.193	0.26853	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	1.115055	0.15006	11.51	0.96813879692420401	0.31199	0.00757	0.03139	N	ALL	0.051581	0.09128	N	-1.04080795008912	0.07769	0.3620302	-1.09480696875959	0.07801	0.3809494	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.62	-0.429	0.11689	-0.031000	0.12237	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1959:0.3821:0.1912:0.2308	0.678	0.00815	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1050.83	43	chr6	31972121	.	C	T	1050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.012;DP=265;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.215;SOR=0.562	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1061,0,812	5	0	1	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	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	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.25	175.01	38	chr6	31996544	.	T	C	175.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.39;DP=346;ExcessHet=1.383;FS=57.608;MLEAC=3;MLEAF=0.25;MQ=58.11;MQRankSum=-8.207;QD=0.74;ReadPosRankSum=-0.554;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	3	0	3	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	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	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.25	456.03	38	chr6	31996553	.	T	G	456.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.494;DP=361;ExcessHet=1.383;FS=61.519;MLEAC=3;MLEAF=0.25;MQ=57.98;MQRankSum=-8.669;QD=1.85;ReadPosRankSum=-1.019;SOR=5.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	3	0	3	0
chr6	32041093	32041093	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon9:c.C1357T:p.P453S,CYP21A2:NM_001368144:exon9:c.C1042T:p.P348S,CYP21A2:NM_000500:exon10:c.C1447T:p.P483S,CYP21A2:NM_001368143:exon10:c.C1042T:p.P348S	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	7	1504	10	1	0	12	0.00397351	.	.	YES	587370	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|Congenital_adrenal_hyperplasia|CYP21A2-related_disorder|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.510	0.726462387047	.	.	0.0010	0	0.0013	0	0	0.0015	0.0044	0.0004	0.0004592	71	154602	rs776989258	0.0005	0.0005	0.0005	0.0005	0.0102	0.0005	0.0004	0.0079	0.0070	0.0006	0.0009	0.0006	0	0	0.0102	0.0005	0.0007	0.0002	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0002	0.0067	0.0007	0.0006	0	0	0	0.0005	0.0010	0.0004	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.008303	0.30907	N	0.151867	0.978404	0.39459	D	.	.	.	-1.49	0.81235	T	-3.61	0.72710	D	0.719	0.72120	-0.3104	0.74693	T	0.314	0.68361	T	10	0.19951808	0.35963	T	0.726462	0.97794	D	0.510	0.78971	0.762	0.89053	0.798317084126	0.79643	0.7628597569142505	0.76233	0.0610399350882	0.06795	0.436037421227	0.30035	T	.	.	.	-0.225893	0.17195	T	-0.198093	0.54826	T	0.100600972771645	0.12423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.39254	B	.;.;.;.	.;.;.;.	4.660068	0.74370	26.1	0.99903007287085799	0.97426	0.96959	0.71882	D	AEFGI	0.773592	0.70756	D	0.284674302490804	0.55371	3.701219	0.294644100257834	0.55227	3.685858	0.460908789788945	0.20623	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	4.43	0.52967	2.136000	0.41744	.	.	0.592000	0.32167	0.997000	0.40164	1.000000	0.68203	0.577000	0.30821	0.0:0.9069:0.0:0.0931	10.142	0.41915	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.006889	0.006098	0.013699	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	183.83	31	chr6	32041093	.	C	T	183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.234;DP=197;ExcessHet=0;FS=1.585;MLEAC=1;MLEAF=0.083;MQ=54.73;MQRankSum=0.355;QD=5.74;ReadPosRankSum=-0.44;SOR=1.284	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1197	5	0	1	0
chr6	32096594	32096594	A	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.T1259C:p.V420A,TNXB:NM_019105:exon3:c.T1259C:p.V420A	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	491445	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.171	0.0376530423833	8.6e-05	0.000998403	0.0010	0	0	0.0007	0	0.0010	0.0031	0.0019	0.0005304	82	154602	rs200226242	0.0004	0.0004	0.0004	0.0005	0.0022	0.0004	0.0004	0.0019	0.0018	3.04e-05	0.0002	0	7.83e-05	2.196e-05	0.0014	0.0003	0.0011	0.0022	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.412e-05	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0037	0.02	0.49613	D	0.05	0.48080	T	.	.	.	.	.	.	0.001375	0.39242	N	0.000000	0.840601	0.40859	D	.	.	.	3.16	0.11082	T	-2.09	0.65858	N	0.338	0.37923	-1.1057	0.03467	T	0.024	0.10013	T	10	0.021895856	0.00534	T	0.037653	0.57750	D	0.171	0.43483	.	.	0.260580752073	0.25663	.	.	.	.	0.823105454445	0.85504	D	0.169836	0.51737	T	-0.438358	0.01322	T	-0.408305	0.32420	T	0.0763345630058551	0.09512	T	0.728227	0.34274	T	0.16489172	0.36727	0.1925641	0.42778	0.15592863	0.35215	0.20120125	0.44088	-8.289	0.63022	D	0.12458666258456502	0.12248	0.317	0.63750	B	.;.;.;.;.	.;.;.;.;.	4.420496	0.68469	25.2	0.97061141808910001	0.32197	0.94377	0.60971	D	AEFDBHCI	0.776753	0.70977	D	0.247701462633987	0.53526	3.520994	0.206530853061734	0.50209	3.215408	0.999999999986826	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.616487	0.41570	0	0.562822	0.20929	0	.	.	4.6	4.6	0.56512	4.032000	0.56985	.	.	0.686000	0.82685	0.952000	0.33172	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.934	0.52150	906	0.23090	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002753	0.000000	0.002717	0.005319	0.000000	0.008621	0.006250	0.000000	0.08333	1035.83	35	chr6	32096594	.	A	G	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.488;DP=294;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.17;SOR=0.789	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1370	5	0	1	0
chr6	32180027	32180027	G	A	exonic	RNF5	.	nonsynonymous SNV	RNF5:NM_006913:exon5:c.G346A:p.D116N	.	415	1104	2	1	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0321690412038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.537	0.09863	T	0.086	0.24919	B	0.032	0.22131	B	0.003946	0.34294	N	0.206229	0.999999	0.58761	D	1.325	0.33218	L	-3.32	0.93882	D	-0.8	0.22078	N	0.446	0.48411	-0.2747	0.75684	T	0.456	0.78808	T	10	0.226262	0.39477	T	0.032169	0.54066	D	0.277	0.59375	0.253	0.19223	0.92380155035	0.92302	0.6282534860754048	0.62758	0.857156577132	0.68791	0.69210588932	0.66009	T	0.077599	0.35692	T	0.0692637	0.60760	T	-0.138284	0.60266	T	0.576042354106903	0.35466	D	0.90401	0.66351	D	0.13741475	0.31819	0.15159078	0.35701	0.13741475	0.31818	0.15159078	0.35701	-5.519	0.42045	T	.	.	0.151	0.33504	B	.	.	3.667438	0.52131	23.2	0.99697323036066643	0.80385	0.98295	0.81357	D	AEFBCI	0.964113	0.98617	D	-0.0114730932557981	0.41335	2.470658	0.215727220761147	0.50719	3.261086	0.999999999999811	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.36	5.36	0.76624	5.687000	0.67883	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.952	0.86120	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	.	.	.	.	.	.	.	.	0.08333	1284.83	40	chr6	32180027	.	G	A	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.138;DP=295;ExcessHet=0;FS=9.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.119;SOR=1.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.1667	3679.04	37	chr6	32181363	.	C	T	3679.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.99;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1389	5	1	0	0
chr6	32519649	32519654	CAACTA	-	exonic	HLA-DRB5	.	nonframeshift deletion	HLA-DRB5:NM_002125:exon3:c.371_373del:p.V124del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.676e-05	0	0	0	0	4.812e-05	0	0	5.17e-05	8	154602	rs779212605	2.889e-05	0.0065	2.774e-05	3.001e-05	8.105e-05	1.759e-05	1.438e-05	1.397e-05	1.121e-05	8.105e-05	5.291e-05	0.0002	0	3.465e-05	0	2.606e-05	3.646e-05	0	0	0.0039	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	117.5	46	chr6	32519648	.	TCAACTA	T	117.5	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.75;QD=28.91;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	1	0	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1285.79	46	chr6	32519649	.	C	*	1285.79	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.09;QD=29.3;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	1	0	0
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1285.79	46	chr6	32519650	.	A	*	1285.79	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.09;QD=37.38;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	1	0	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3279.47	221	chr6	32521970	.	G	*	3279.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.4;DP=1298;ExcessHet=2.3007;FS=7.707;MLEAC=3;MLEAF=0.3;MQ=55.24;MQRankSum=-8.518;QD=3.33;ReadPosRankSum=-5.796;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:178,31:253:99:0|1:32521970_G_*:1292,589,8782:32521970	3	1	1	1
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5529.95	226	chr6	32521977	.	TG	*	5529.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.354;DP=1213;ExcessHet=0.095;FS=21.521;MLEAC=2;MLEAF=0.167;MQ=50.64;MQRankSum=-3.365;QD=8.63;ReadPosRankSum=-0.822;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:224,0:254:99:0|1:32521957_G_A:585,1260,10665:32521957	4	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3949.97	227	chr6	32521978	.	GT	*	3949.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=5.69;DP=1225;ExcessHet=0.7136;FS=4.129;MLEAC=3;MLEAF=0.3;MQ=53.85;MQRankSum=-9.209;QD=4.15;ReadPosRankSum=-5.919;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:174,30:256:99:0|1:32521970_G_*:1602,878,8140:32521970	3	1	1	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6769.44	219	chr6	32521981	.	T	*	6769.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.806;DP=1195;ExcessHet=0.7136;FS=5.046;MLEAC=4;MLEAF=0.4;MQ=51.87;MQRankSum=-7.363;QD=7.31;ReadPosRankSum=-4.572;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,53:249:99:0|1:32521957_G_A:1639,0,6853:32521957	1	0	4	1
chr6	32522075	32522075	-	GG	exonic	HLA-DRB5	.	frameshift insertion	HLA-DRB5:NM_002125:exon2:c.199_200insCC:p.L67Sfs*14	.	192	806	396	114	14	638	0.27907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0057	0	0.0207	0	0.0008	0	0.0020	.	.	.	rs751801113	0.0015	0.0033	0.0014	0.0017	0.0194	0.0015	0.0014	0.0182	0.0177	0.0012	0.0003	0.0021	0.0194	0.0007	0.0002	0.0003	0.0049	0.0075	0.0013	0.0041	0.0012	0.0014	0.0164	0.0011	0.0010	0.0128	0.0115	0.0012	0	0.0005	0.0019	0.0164	0.0010	0	0.0003	0.0048	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3035.73	149	chr6	32522075	.	A	AGG	3035.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.021;DP=1041;ExcessHet=0;FS=13.663;MLEAC=1;MLEAF=0.083;MQ=44.11;MQRankSum=-2.565;QD=18.07;ReadPosRankSum=4.31;SOR=1.448	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	5	0	1	0
chr6	32522078	32522079	TC	-	exonic	HLA-DRB5	.	frameshift deletion	HLA-DRB5:NM_002125:exon2:c.196_197del:p.D66Lfs*20	.	43	1462	12	1	4	18	0.00476515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0058	0	0.0192	0	0.0010	0	0.0018	.	.	.	rs761987417	0.0014	0.0046	0.0013	0.0016	0.0178	0.0014	0.0013	0.0166	0.0162	0.0014	0.0004	0.0021	0.0178	0.0005	0.0002	0.0003	0.0044	0.0070	0.0008	0.0041	0.0008	0.0009	0.0113	0.0007	0.0007	0.0087	0.0077	0.0008	0	0.0003	0.0011	0.0113	0.0004	0	0.0002	0.0019	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	637.79	144	chr6	32522077	.	GTC	G	637.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=1055;ExcessHet=0;FS=19.923;MLEAC=1;MLEAF=0.083;MQ=46.68;MQRankSum=4.58;QD=17.24;ReadPosRankSum=1.18;SOR=3.935	GT:AD:DP:GQ:PL	0/0:215,0:215:99:0,120,1800	5	0	1	0
chr6	32522078	32522078	T	0	exonic	HLA-DRB5	.	.	.	.	120	1154	123	4	121	252	0.0537105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2106.73	147	chr6	32522078	.	T	*	2106.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.69;DP=1077;ExcessHet=3.1439;FS=28.564;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-6.365;QD=3.05;ReadPosRankSum=-5.922;SOR=2.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0:216:99:.:.:332,913,8999:.	5	0	1	0
chr6	32522079	32522079	C	0	exonic	HLA-DRB5	.	.	.	.	234	112	90	627	459	1803	0.857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	34027.1	147	chr6	32522079	.	C	*	34027.1	.	AC=1;AF=0.083;AN=12;DP=1072;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.43;QD=33.59;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:217:99:.:.:9119,9072,9059:.	5	0	1	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4625.1	112	chr6	32522156	.	T	*	4625.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.313;DP=855;ExcessHet=0.095;FS=3.605;MLEAC=1;MLEAF=0.083;MQ=54.89;MQRankSum=-13.57;QD=8.91;ReadPosRankSum=2.95;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,21:187:99:0|1:32522156_T_*:406,0,6571:32522156	5	0	1	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1694.13	112	chr6	32522157	.	C	*	1694.13	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.942;DP=854;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.88;MQRankSum=-13.46;QD=3.25;ReadPosRankSum=1.33;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,21:184:99:0|1:32522156_T_*:415,0,6445:32522156	4	0	2	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1705.45	112	chr6	32522159	.	T	*	1705.45	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.675;DP=846;ExcessHet=0.7136;FS=0.702;MLEAC=2;MLEAF=0.167;MQ=54.94;MQRankSum=-13.42;QD=3.34;ReadPosRankSum=1.46;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,21:183:99:0|1:32522156_T_*:418,0,6403:32522156	4	0	2	0
chr6	32530183	32530183	C	A	exonic	HLA-DRB5	.	nonsynonymous SNV	HLA-DRB5:NM_002125:exon1:c.G42T:p.K14N	.	91	491	549	255	136	1195	0.518863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	.	0.0043	0.0163	0.0031	0.0047	0.0031	0.0036	0.0038	0.0010	0.0061088	159	26028	rs75457801	0.0005	0.0017	0.0005	0.0005	0.0029	0.0005	0.0004	0.0024	0.0022	0.0029	0.0011	0.0007	0.0011	0.0005	0.0008	0.0003	0.0007	0.0010	0.0047	0.0090	0.0045	0.0049	0.0102	0.0044	0.0043	0.0093	0.0090	0.0102	0	0.0035	0.0032	0.0029	0.0022	0.0108	0.0025	0.0060	0.0036	0.0	0.91255	D	0.004	0.74150	D	0.0	0.02946	B	0.0	0.01387	B	0.936540	0.08383	N	0.968061	1	0.08975	N	0	0.06538	N	8.41	0.00237	T	-0.51	0.15986	N	0.207	0.22998	-1.0753	0.08287	T	0.000	0.00039	T	10	0.015625268	0.00328	T	.	.	.	0.067	0.19503	0.2	0.11384	0.0401082797425	0.02173	0.2424787498478645	0.24161	0.0178308956706	0.01746	0.253584623337	0.04154	T	0.010409	0.09402	T	-0.591256	0.00165	T	-0.622913	0.10958	T	0.029669057789863	0.01939	T	0.925407	0.72589	D	0.08798817	0.20509	0.07488305	0.16428	0.08798817	0.20509	0.07488305	0.16428	-3.31	0.13866	T	.	.	0.195	0.41678	B	.	.	1.253906	0.16507	12.59	0.46772957177307106	0.03772	0.00099	0.00643	N	ALL	0.043122	0.06779	N	-1.88726384082248	0.00365	0.01567132	-1.86170671968711	0.00581	0.02581019	0.999994673573998	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.54	-2.98	0.05179	1.165000	0.31432	.	.	-1.632000	0.00852	0.223000	0.24568	0.000000	0.08366	0.000000	0.00833	0.5447:0.3723:0.0829:0.0	7.522	0.26801	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2611.43	155	chr6	32530183	.	C	A	2611.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=584;ExcessHet=2.3007;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-11.28;QD=4.89;ReadPosRankSum=-1.436;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,16:137:95:.:.:505,95,4321:.	5	0	1	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2611.43	155	chr6	32530183	.	CTT	*	2611.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=584;ExcessHet=2.3007;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=55.08;MQRankSum=-11.28;QD=4.89;ReadPosRankSum=-1.436;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:137:95:.:.:505,795,4956:.	5	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	17177.1	151	chr6	32530184	.	T	*	17177.1	.	AC=5;AF=0.417;AN=12;DP=695;ExcessHet=0;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=56.32;MQRankSum=-11.56;QD=25.41;ReadPosRankSum=-3.157;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,20:135:95:.:.:5131,3990,3997:.	2	1	3	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	19791.2	150	chr6	32530185	.	T	*	19791.2	.	AC=4;AF=0.333;AN=12;DP=680;ExcessHet=0;FS=3.529;MLEAC=4;MLEAF=0.333;MQ=56.38;MQRankSum=-11.52;QD=29.5;ReadPosRankSum=-3.174;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,19:134:60:.:.:4890,3981,4006:.	3	1	2	0
chr6	32530205	32530205	-	CCA	exonic	HLA-DRB5	.	nonframeshift insertion	HLA-DRB5:NM_002125:exon1:c.19_20insTGG:p.P7delinsLA	.	3	1475	44	0	0	44	0.0146961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.504e-05	0.0002	0	0	0	1.514e-05	0	0	0.0044567	116	26028	rs774116269	7.428e-07	2.14e-05	0	1.484e-06	1.224e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.224e-05	1.323e-05	0.0002	1.294e-05	1.354e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	473.03	102	chr6	32530205	.	G	GCCA	473.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.45;DP=437;ExcessHet=0.4139;FS=17.04;MLEAC=2;MLEAF=0.167;MQ=55.95;MQRankSum=-5.898;QD=2.6;ReadPosRankSum=0.193;SOR=2.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,11:111:99:0|1:32530195_G_A:161,0,4166:32530195	4	0	2	0
chr6	32530207	32530207	-	C	exonic	HLA-DRB5	.	frameshift insertion	HLA-DRB5:NM_002125:exon1:c.17_18insG:p.G8Wfs*34	.	91	1381	43	0	7	50	0.0153298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.516e-05	0.0002	0	0	0	1.521e-05	0	0	0.0043415	113	26028	rs747906579	7.473e-07	2.278e-05	0	1.493e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.594e-05	0.0002	1.559e-05	1.631e-05	0.0002	2.65e-06	9.9e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	485.03	102	chr6	32530207	.	G	GC	485.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=433;ExcessHet=0.4139;FS=14.958;MLEAC=2;MLEAF=0.167;MQ=55.94;MQRankSum=-5.969;QD=2.72;ReadPosRankSum=0.055;SOR=2.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,11:108:99:0|1:32530195_G_A:170,0,4040:32530195	4	0	2	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4554.09	210	chr6	32581836	.	G	A	4554.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=1380;ExcessHet=0.4139;FS=2.168;MLEAC=1;MLEAF=0.083;MQ=57.56;MQRankSum=-6.148;QD=9.04;ReadPosRankSum=4.69;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:254,0:254:99:.:.:0,120,1800:.	5	0	1	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3487.75	124	chr6	32584158	.	G	T	3487.75	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.456;DP=758;ExcessHet=0;FS=7.331;MLEAC=1;MLEAF=0.083;MQ=45.4;MQRankSum=5.07;QD=16.93;ReadPosRankSum=1.63;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:115,0:115:99:.:.:0,120,1800:.	5	0	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2307.01	124	chr6	32584171	.	G	*	2307.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=976;ExcessHet=1.383;FS=4.31;MLEAC=2;MLEAF=0.167;MQ=46.96;MQRankSum=4.11;QD=3.37;ReadPosRankSum=1.97;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,39:176:99:0|1:32584161_G_A:1225,0,5635:32584161	4	0	2	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2601.9	168	chr6	32584174	.	GCC	G	2601.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=1013;ExcessHet=0.1336;FS=33.477;MLEAC=4;MLEAF=0.333;MQ=48.5;MQRankSum=-0.856;QD=6.54;ReadPosRankSum=-5.045;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,24:187:99:.:.:517,0,6732:.	3	1	2	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2163.51	168	chr6	32584176	.	CCG	*	2163.51	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3.52;DP=1110;ExcessHet=0.7136;FS=4.954;MLEAC=4;MLEAF=0.4;MQ=48.33;MQRankSum=-0.678;QD=3.63;ReadPosRankSum=0.944;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,24:189:42:0|1:32584176_CCG_C:580,0,5890:32584176	2	1	2	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6197.24	167	chr6	32584177	.	CG	*	6197.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=1145;ExcessHet=1.383;FS=0.544;MLEAC=1;MLEAF=0.083;MQ=53.57;MQRankSum=-5.544;QD=8.6;ReadPosRankSum=-0.344;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:119,23:189:99:0|1:32584161_G_A:1615,1008,5908:32584161	5	0	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10658.6	301	chr6	32584370	.	G	*	10658.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.44;DP=1462;ExcessHet=0.7136;FS=8.32;MLEAC=4;MLEAF=0.333;MQ=55;MQRankSum=-13.72;QD=7.58;ReadPosRankSum=-0.126;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,102:381:99:0|1:32584366_C_T:3587,0,9957:32584366	2	0	4	0
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.1667	6300.04	174	chr6	32589652	.	C	T	6300.04	.	AC=2;AF=0.167;AN=12;DP=953;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.94;QD=34.53;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:147,0:147:99:.:.:0,120,1800:.	5	1	0	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.08333	872.83	185	chr6	32589684	.	A	G	872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=929;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.083;MQ=46.79;MQRankSum=1.17;QD=4.72;ReadPosRankSum=1.28;SOR=0.781	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	5	0	1	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1141.06	247	chr6	32641444	.	G	*	1141.06	.	AC=5;AF=0.417;AN=12;DP=896;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=56.04;QD=1.86;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:32641430_C_T:1963,0,7003:32641430	2	1	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1183.06	247	chr6	32641445	.	A	*	1183.06	.	AC=5;AF=0.417;AN=12;DP=897;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=55.97;QD=1.93;SOR=1.335	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:32641430_C_T:1963,0,7003:32641430	2	1	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1300.06	247	chr6	32641462	.	G	*	1300.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=19.881;MLEAC=5;MLEAF=0.417;MQ=57.02;QD=2.04;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,61:244:99:0|1:32641430_C_T:1990,0,7468:32641430	2	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1258.06	247	chr6	32641464	.	T	*	1258.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=20.275;MLEAC=5;MLEAF=0.417;MQ=57.32;QD=1.98;SOR=1.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,61:244:99:0|1:32641430_C_T:1990,0,7468:32641430	2	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2032.06	247	chr6	32641501	.	G	*	2032.06	.	AC=5;AF=0.417;AN=12;DP=938;ExcessHet=0.095;FS=5.105;MLEAC=5;MLEAF=0.417;MQ=57.94;QD=3.1;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,56:257:99:0|1:32641476_G_A:1746,0,8271:32641476	2	1	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2341.06	247	chr6	32641522	.	A	*	2341.06	.	AC=5;AF=0.417;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=5;MLEAF=0.417;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,53:262:99:0|1:32641476_G_A:1394,0,8565:32641476	2	1	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2341.06	247	chr6	32641522	.	A	G	2341.06	.	AC=1;AF=0.083;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=1;MLEAF=0.083;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:209,0:262:99:0|1:32641476_G_A:1394,2023,10748:32641476	5	0	1	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N,HLA-DQB1:NM_002123:exon2:c.C308A:p.T103N	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.83	180	chr6	32664869	.	G	T	75.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.959;DP=1011;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.083;MQ=58.18;MQRankSum=-8.63;QD=1;ReadPosRankSum=-0.24;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:304,0:304:99:.:.:0,120,1800:.	5	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	20659.0	229	chr6	32664917	.	C	A	20659.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=7.76;DP=1471;ExcessHet=0.095;FS=1.748;MLEAC=2;MLEAF=0.167;MQ=59.42;MQRankSum=-1.372;QD=20.12;ReadPosRankSum=-0.716;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:167,0:344:99:0|1:32664917_C_G:6923,7426,14438:32664917	4	0	2	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	923.06	229	chr6	32664926	.	G	A	923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=8.52;DP=1419;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.76;MQRankSum=-7.886;QD=1.92;ReadPosRankSum=-2.575;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:315,0:315:99:.:.:0,120,1800:.	4	0	2	0
chr6	32761836	32761836	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A188G:p.E63G,HLA-DQB2:NM_001300790:exon2:c.A188G:p.E63G	.	0	1474	45	3	0	51	0.0170057	.	.	.	2822947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.137	.	.	0.00439297	0.0132	0.0031	0.0024	0.0009	0.0073	0.0198	0.0117	0.0082	0.0074902	1158	154602	rs115793818	0.0086	0.0087	0.0086	0.0087	0.0099	0.0085	0.0085	0.0091	0.0090	0.0040	0.0027	0.0304	0.0006	0.0051	0.0099	0.0092	0.0084	0.0053	0.0065	0.0065	0.0068	0.0063	0.0091	0.0062	0.0061	0.0085	0.0083	0.0029	0	0.0031	0.0288	0.0010	0.0060	0.0034	0.0091	0.0076	0.0048	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.867854	0.07157	U	1.097550	0.987679	0.24492	N	.	.	.	7.77	0.00338	T	-6.74	0.92648	D	0.425	0.46462	-0.7755	0.56553	T	0.233	0.59965	T	10	0.009718716	0.00219	T	.	.	.	0.137	0.36984	.	.	0.324986149311	0.32103	0.8822721149249012	0.88195	1.52937882776	0.87560	.	.	.	0.056207	0.30222	T	-0.422119	0.01659	T	-0.371159	0.36753	T	0.132767829360947	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	-9.118	0.68453	D	.	.	0.482	0.63937	A	.;.;.	.;.;.	4.135670	0.61922	24.4	0.9960792757236383	0.74634	0.75301	0.36862	D	AEFDBCI	0.507824	0.53796	D	-0.148173745641328	0.35311	2.026715	-0.285778328430731	0.28566	1.593756	0.243303755062578	0.18596	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.48	2.26	0.27418	3.349000	0.51931	.	.	0.591000	0.32079	0.997000	0.40164	0.036000	0.21445	0.014000	0.10232	0.0:0.0:0.2068:0.7932	8.051	0.29742	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	DXO	Heart_Left_Ventricle	.	.	rs115793818	Likely benign	0	0	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	0.011983	0.005051	0.012228	0.000000	0.050000	0.000000	0.018293	0.007576	0.1667	4907.04	97	chr6	32761836	.	T	C	4907.04	.	AC=2;AF=0.167;AN=12;DP=632;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.46;SOR=0.8	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	5	1	0	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V,TAP2:NM_018833:exon10:c.A1729G:p.M577V	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1499	20	2	0	24	0.00794176	.	.	.	1155335	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0008	0.0301518	0.0135	0.0012	0.0005	0.0914	0.0002	0.0006	0.0229	0.0440	0.0119468	1847	154602	rs2228391	0.0054	0.0054	0.0043	0.0065	0.0808	0.0053	0.0053	0.0785	0.0775	0.0010	0.0004	0.0003	0.0808	7.64e-05	0.0040	0.0004	0.0083	0.0427	0.0055	0.0055	0.0040	0.0071	0.0948	0.0052	0.0051	0.0879	0.0851	0.0007	0	0.0005	0.0012	0.0948	0	0.0034	0.0004	0.0080	0.0532	0.798	0.18122	T	0.59	0.12037	T	0.003	0.11197	B	0.007	0.12992	B	0.420975	0.12871	N	0.701585	.	.	.	-0.655	0.02084	N	-2.56	0.89627	D	-0.38	0.13805	N	0.035	0.01004	-1.0652	0.10502	T	0.177	0.52146	T	9	0.0018317103	0.00024	T	.	.	.	0.245	0.55201	.	.	.	.	0.39621706378244653	0.39536	0.463953477707	0.45884	0.289935529232	0.08913	T	0.194478	0.55027	T	-0.443903	0.01227	T	-0.33566	0.40836	T	0.00255174892571557	0.00027	T	0.455254	0.13018	T	0.050581872	0.09161	0.10338751	0.24805	0.050581872	0.09161	0.10338751	0.24804	-4.227	0.28816	T	.	.	0.101	0.17402	B	.;.;.;.	.;.;.;.	-0.409092	0.02180	0.214	0.55239157411957363	0.05301	0.18226	0.20172	N	AEFBI	0.087900	0.17821	N	-1.27513763532247	0.03977	0.1786684	-1.27220721765469	0.04810	0.2277881	0.999976508814831	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.17	-4.93	0.02839	-1.770000	0.01889	.	.	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.0745:0.6262:0.2994	11.115	0.47476	934	0.15400	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	rs2228391	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009259	0.000000	0.004076	0.005319	0.050000	0.000000	0.003049	0.018939	0.08333	1392.83	33	chr6	32829996	.	T	C	1392.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=292;ExcessHet=0;FS=4.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.28;SOR=1.028	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1288	5	0	1	0
chr6	32847638	32847638	C	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon9:c.G1778T:p.R593I,TAP1:NM_001292022:exon9:c.G1175T:p.R392I	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.118500844777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.036	0.52060	D	1.0	0.90584	D	0.998	0.88582	D	0.000040	0.55875	D	0.000000	1	0.81001	D	1.405	0.35469	L	-3.38	0.94161	D	-6.84	0.93060	D	0.678	0.68516	0.671	0.92813	D	0.785	0.92698	D	10	0.8590812	0.85118	D	0.118501	0.79856	D	0.637	0.86130	0.639	0.77579	0.938965583594	0.93833	0.8477696694232881	0.84737	2.02219592153	0.94013	0.393995434046	0.24231	T	0.497436	0.81931	T	0.299876	0.82958	D	0.192974	0.82738	D	0.963895499706268	0.66794	D	0.911709	0.68653	D	0.7979294	0.83773	0.5531495	0.74159	0.7979294	0.83775	0.5531495	0.74160	-11.03	0.79823	D	.	.	0.296	0.55201	B	.;.	.;.	5.324593	0.89363	30	0.98785451571110816	0.46206	0.89897	0.50667	D	AEFDBCI	0.419075	0.48645	N	0.584671380994192	0.72217	5.771159	0.588919519484656	0.74143	6.08729	0.999999998860644	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	4.85	0.62375	4.652000	0.61149	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9126:0.0:0.0874	11.153	0.47699	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847638	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=180;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.4;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:81:.:.:0,81,1215:.	5	0	1	0
chr6	32847641	32847641	C	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon9:c.G1775T:p.G592V,TAP1:NM_001292022:exon9:c.G1172T:p.G391V	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.195688784512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.58089	D	0.968	0.56581	D	0.718	0.54779	P	0.004724	0.33446	N	0.137344	1	0.81001	D	1.69	0.43327	L	-3.28	0.93691	D	-2.6	0.55983	D	0.498	0.53093	0.546	0.91179	D	0.708	0.89951	D	10	0.7865186	0.78294	D	0.195689	0.86436	D	0.749	0.91371	0.675	0.81299	0.955607726167	0.95513	0.8084387549629776	0.80798	1.66538413369	0.89783	0.405148178339	0.25785	T	0.393667	0.75301	T	0.237756	0.77449	D	0.103743	0.77156	D	0.958452165126801	0.65274	D	0.954705	0.82752	D	0.5227525	0.68418	0.5888524	0.76149	0.5227525	0.68419	0.5888524	0.76150	-5.729	0.43950	T	.	.	0.266	0.59898	B	.;.	.;.	4.381783	0.67552	25.1	0.99635251567841066	0.76326	0.88844	0.48971	D	AEFDBCI	0.417454	0.48549	N	0.396727099348978	0.61245	4.322936	0.42347179233045	0.63032	4.528992	0.999999947304288	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	4.85	0.62375	4.171000	0.58029	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8374:0.1625:0.0	12.904	0.57532	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847641	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.966;DP=180;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.4;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:81:.:.:0,81,1215:.	5	0	1	0
chr6	32847642	32847642	C	A	exonic	TAP1	.	stopgain	TAP1:NM_000593:exon9:c.G1774T:p.G592X,TAP1:NM_001292022:exon9:c.G1171T:p.G391X	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004724	0.33446	N	0.137344	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.832	0.82761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.545429	0.99055	41	0.99383970230580254	0.62024	0.89350	0.49762	D	AEFDBCI	0.059429	0.11225	N	1.0658887860174	0.97450	16.14773	0.924784729282597	0.96563	14.85378	0.999999998982987	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.071000	0.41125	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.387	0.74430	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847642	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.534;DP=181;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.43;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:81:.:.:0,81,1215:.	5	0	1	0
chr6	33279281	33279281	G	A	exonic	WDR46	.	nonsynonymous SNV	WDR46:NM_001164267:exon15:c.C1666T:p.R556C,WDR46:NM_005452:exon15:c.C1828T:p.R610C	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0126071359345	0.0002	.	4.124e-05	0.0002	0	0	0	3.002e-05	0	6.075e-05	3.23e-05	5	154602	rs148252283	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0002	2.347e-05	2.095e-05	3.983e-05	2.373e-05	0.0001	0	0	0	0	0.0002	2.968e-05	4.968e-05	4.637e-05	4.594e-05	4.593e-05	5.138e-05	4.026e-05	7.214e-05	2.107e-05	1.525e-05	1.972e-05	1.124e-05	7.214e-05	0	0	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.002	0.09854	B	0.001	0.04355	B	0.000852	0.41440	D	0.243090	0.733704	0.29804	N	.	.	.	1.69	0.27032	T	-2.15	0.48687	N	0.19	0.20793	-1.0556	0.12882	T	0.026	0.11309	T	10	0.065289885	0.08788	T	0.012607	0.31334	T	0.090	0.26093	.	.	0.115124310173	0.11017	0.29921005490428815	0.29834	1.07849054406	0.77062	0.354781627655	0.18623	T	0.290347	0.66312	T	-0.337915	0.05534	T	-0.4865	0.23758	T	0.907956659793854	0.56239	D	0.90371	0.66210	D	0.20622128	0.42789	0.1303815	0.31329	0.20622128	0.42789	0.1303815	0.31328	-8.043	0.61363	D	.	.	0.197	0.41873	B	.	.	3.511530	0.49179	22.7	0.99844989553487773	0.92489	0.32670	0.24642	N	AEFDBCI	0.142834	0.26538	N	-0.528568471206744	0.21161	1.120972	-0.448108615932025	0.23602	1.288003	0.999992004420743	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.49	3.74	0.42108	0.633000	0.24289	3.520000	0.38893	-0.119000	0.14319	0.001000	0.13787	0.606000	0.25744	0.834000	0.39329	0.1716:0.0:0.8284:0.0	8.578	0.32770	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1328.83	35	chr6	33279281	.	G	A	1328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=276;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.386;SOR=0.558	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1339,0,1159	5	0	1	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	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	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	3707.04	33	chr6	33405054	.	T	C	3707.04	.	AC=2;AF=0.167;AN=12;DP=291;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.89;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	1	0	0
chr6	33455227	33455227	C	G	exonic	ZBTB9	.	nonsynonymous SNV	ZBTB9:NM_152735:exon2:c.C127G:p.L43V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0128975865573	0.0018	0.000798722	0.0019	0.0010	0.0045	0	0.0006	0.0021	0.0066	0.0012	0.0018758	290	154602	rs41267651	0.0024	0.0024	0.0024	0.0023	0.0080	0.0023	0.0023	0.0061	0.0055	0.0009	0.0041	0.0005	2.519e-05	0.0006	0.0080	0.0026	0.0034	0.0011	0.0019	0.0019	0.0019	0.0020	0.0033	0.0017	0.0017	0.0026	0.0024	0.0006	0	0.0033	0.0003	0.0002	0.0004	0.0034	0.0029	0.0038	0.0010	0.134	0.26300	T	0.188	0.42794	T	0.659	0.40886	P	0.555	0.49371	P	0.022223	0.26675	U	0.157011	0.791566	0.29220	N	2.21	0.62235	M	-0.32	0.68181	T	-0.85	0.23156	N	0.106	0.09066	-0.9149	0.46233	T	0.171	0.51229	T	10	0.010788649	0.00239	T	0.012898	0.31871	T	0.128	0.35103	.	.	0.654062484426	0.65118	0.5277456185870186	0.52698	1.09006224248	0.77404	0.565167486668	0.47995	T	0.026755	0.48795	T	-0.477137	0.00769	T	-0.458295	0.26785	T	0.0252106042045698	0.01300	T	0.851715	0.53598	D	0.06682156	0.14414	0.14275108	0.33949	0.06682156	0.14414	0.14275108	0.33948	-7.871	0.60187	D	.	.	0.101	0.45024	B	.;.;.	.;.;.	4.094899	0.61010	24.3	0.99592132125131982	0.73690	0.59766	0.31006	D	AEFDGBCI	0.066502	0.13027	N	0.169988595814306	0.49762	3.172975	0.181654971338702	0.48843	3.094825	0.999989244178834	0.51787	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.97	3.03	0.34070	1.711000	0.37549	1.954000	0.29902	0.599000	0.40250	0.526000	0.27158	1.000000	0.68203	0.998000	0.85391	0.0:0.6805:0.0:0.3195	5.326	0.15215	560	0.71333	BTB/POZ domain;BTB/POZ domain;BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017838	0.065657	0.017663	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1175.83	40	chr6	33455227	.	C	G	1175.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.626;DP=302;ExcessHet=0;FS=4.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.412;SOR=0.353	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1186,0,1547	5	0	1	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E	.	411	1081	28	2	0	32	0.0145852	.	.	.	699552	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1939.83	160	chr6	33670361	.	C	A	1939.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.038;DP=337;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.765;SOR=0.506	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr6	33772728	33772728	T	C	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001143944:exon8:c.A506G:p.N169S,LEMD2:NM_001348709:exon9:c.A506G:p.N169S,LEMD2:NM_001348710:exon9:c.A1013G:p.N338S,LEMD2:NM_181336:exon9:c.A1412G:p.N471S	Cataract 46, juvenile-onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	4163405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00861643987822	.	.	0.0001	0	0	0	0	0.0002	0	6.149e-05	0.0001035	16	154602	rs754334541	6.568e-05	6.635e-05	6.126e-05	7.014e-05	0.0003	5.495e-05	5.107e-05	6.092e-05	4.484e-05	0	0	0.0004	2.519e-05	3.754e-05	0.0003	6.115e-05	9.935e-05	6.957e-05	5.255e-05	5.253e-05	5.138e-05	5.378e-05	0.0004	2.556e-05	1.83e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0.0006	0	0	0	4.41e-05	0	0.0004	0.217	0.46910	T	0.0	0.92824	D	0.705	0.41986	P	0.355	0.42984	B	0.000130	0.49741	D	0.085235	0.999242	0.52935	D	2.445	0.70938	M	.	.	.	-4.71	0.79915	D	0.405	0.44570	-0.8988	0.48115	T	0.124	0.42757	T	9	0.32252622	0.49601	T	0.008616	0.22779	T	0.211	0.50185	0.754	0.88402	0.538561335957	0.53506	0.8008757854619355	0.80041	1.36812693153	0.84473	0.563203692436	0.47720	T	0.414051	0.83820	T	-0.300596	0.08604	T	-0.409882	0.32238	T	0.278540700674057	0.24110	T	0.90391	0.66280	D	0.10133952	0.23937	0.13030757	0.31314	0.10133952	0.23937	0.13030757	0.31313	-11.86	0.84162	D	.	.	0.124	0.60751	B	.;.;.;.	.;.;.;.	3.200518	0.43526	21.7	0.99775713687680323	0.86346	0.84600	0.43683	D	ALL	0.521944	0.54616	D	0.0941739997124988	0.46190	2.863317	0.17775129481006	0.48630	3.076392	0.99999999993761	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.35	4.18	0.48473	4.308000	0.58922	2.377000	0.32464	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.777000	0.36790	0.0:0.0726:0.0:0.9274	11.136	0.47600	704	0.57414	Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2586.04	58	chr6	33772728	.	T	C	2586.04	.	AC=2;AF=0.167;AN=12;DP=346;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.42;SOR=0.979	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	1	0	0
chr6	33789040	33789040	G	T	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon1:c.C77A:p.T26N,LEMD2:NM_181336:exon1:c.C77A:p.T26N	Cataract 46, juvenile-onset, Autosomal recessive	403	1106	13	0	0	13	0.0058427	.	.	.	699557	LEMD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.639280208701	0.0011	0.000998403	0.0018	0.0003	0.0025	0	0	0.0015	0.0013	0.0049	0.0015265	236	154602	rs201742534	0.0013	0.0013	0.0012	0.0015	0.0060	0.0013	0.0013	0.0044	0.0038	6.897e-05	0.0019	0.0006	3.027e-05	6.668e-05	0.0060	0.0012	0.0017	0.0041	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0017	0.0002	0.0395	0.0017	0.0012	0	0	0.0034	0.0016	0.0043	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.854	0.60866	P	0.035878	0.24591	N	0.289183	0.996411	0.43191	D	2.435	0.70606	M	0.59	0.53943	T	-1.29	0.32387	N	0.357	0.39861	-0.7408	0.58412	T	0.184	0.53255	T	10	0.007704705	0.00175	T	0.63928	0.96921	D	0.297	0.61730	.	.	0.88499437131	0.88386	0.6374398677451883	0.63677	2.36727214104	0.96895	0.967392325401	0.99966	D	0.138416	0.47188	T	-0.329247	0.06168	T	-0.245587	0.50253	T	0.162509006180523	0.18055	T	0.766923	0.39491	T	0.7202142	0.79173	0.6774251	0.81054	0.6841438	0.77194	0.7451461	0.84937	-7.026	0.54223	T	.	.	0.936	0.85639	P	.;.	.;.	3.929071	0.57419	23.9	0.98969454934959467	0.49501	0.07249	0.13273	N	ALL	0.268558	0.38503	N	0.439557539998273	0.63614	4.59848	0.364489302476495	0.59387	4.115924	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	3.12	0.34986	1.487000	0.35149	11.025000	0.84998	0.639000	0.52094	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0985:0.0:0.9015:0.0	9.958	0.40848	743	0.52768	LEM domain|LEM domain|LEM domain;LEM domain|LEM domain|LEM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005561	0.000000	0.009511	0.000000	0.050000	0.008621	0.000000	0.015152	0.08333	462.83	35	chr6	33789040	.	G	T	462.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.12;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.17;SOR=0.56	GT:AD:DP:GQ:PL	0/1:18,21:39:99:473,0,428	5	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	42.88	70	chr6	34528878	.	G	C	42.88	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.776;DP=307;ExcessHet=0;FS=69.68;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.582;SOR=6.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,16:52:50:.:.:50,0,620:.	2	0	1	3
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1667	2968.06	34	chr6	34871686	.	A	G	2968.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.28;DP=377;ExcessHet=0.4139;FS=4.317;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.77;SOR=0.863	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1645,0,1914	4	0	2	0
chr6	35017781	35017781	C	G	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon11:c.C1732G:p.R578G	.	413	1056	52	1	0	54	0.0249307	.	.	.	710467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0050	0.00638978	0.0069	0.0010	0.0025	0.0007	0.0018	0.0066	0.0089	0.0199	0.0066041	1021	154602	rs62402705	0.0078	0.0078	0.0073	0.0084	0.0225	0.0077	0.0077	0.0217	0.0213	0.0010	0.0035	0.0143	0.0006	0.0014	0.0116	0.0074	0.0083	0.0225	0.0055	0.0055	0.0057	0.0054	0.0151	0.0052	0.0051	0.0123	0.0113	0.0010	0.0395	0.0056	0.0147	0.0012	0.0025	0.0102	0.0074	0.0061	0.0151	0.058	0.37750	T	0.028	0.54934	D	0.028	0.19712	B	0.037	0.23121	B	0.058918	0.22364	N	0.316487	1	0.81001	D	1.5	0.37844	L	1.15	0.38236	T	-0.48	0.15379	N	0.153	0.15749	-1.0507	0.14203	T	0.035	0.15074	T	10	0.0024096668	0.00036	T	.	.	.	0.014	0.01968	.	.	0.264728329957	0.26087	0.17498850738318864	0.17417	0.443632335628	0.44285	0.220682531595	0.01350	T	0.059741	0.31197	T	-0.496311	0.00600	T	-0.469437	0.25576	T	0.0163629167346407	0.00405	T	0.758124	0.38180	T	0.07298053	0.16274	0.08732158	0.20290	0.07298053	0.16274	0.08732158	0.20289	-3.293	0.13647	T	.	.	0.073	0.04723	B	.;.	.;.	2.571998	0.33327	19.31	0.99408043257429679	0.63122	0.89785	0.50476	D	AEFDBHCI	0.375513	0.46001	N	-0.236487996720974	0.31647	1.776601	-0.104423887788837	0.35211	2.034469	0.99999969448561	0.74766	0.626454	0.40138	0	0.653731	0.59785	0	0.80507	0.99327	0	0.372554	0.06265	0	.	.	5.29	4.39	0.52211	2.559000	0.45550	2.269000	0.31817	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.317000	0.24900	0.3184:0.6816:0.0:0.0	12.251	0.53914	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.011696	0.000000	0.000000	0.012195	0.003788	0.08333	565.83	35	chr6	35017781	.	C	G	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.566;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	5	0	1	0
chr6	35118495	35118495	C	T	exonic	TCP11	.	nonsynonymous SNV	TCP11:NM_001366329:exon8:c.G863A:p.R288Q,TCP11:NM_001261818:exon9:c.G1187A:p.R396Q,TCP11:NM_001261819:exon9:c.G1172A:p.R391Q,TCP11:NM_001366324:exon9:c.G1100A:p.R367Q,TCP11:NM_001366326:exon9:c.G950A:p.R317Q,TCP11:NM_001366327:exon9:c.G863A:p.R288Q,TCP11:NM_001366328:exon9:c.G863A:p.R288Q,TCP11:NM_001261817:exon10:c.G1271A:p.R424Q,TCP11:NM_001366323:exon10:c.G1097A:p.R366Q,TCP11:NM_001370687:exon10:c.G1286A:p.R429Q,TCP11:NM_018679:exon10:c.G1100A:p.R367Q,TCP11:NM_001261820:exon11:c.G1097A:p.R366Q,TCP11:NM_001261821:exon11:c.G1097A:p.R366Q,TCP11:NM_001366331:exon11:c.G683A:p.R228Q	.	434	1049	36	3	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	.	0.0086	0.00998403	0.0080	0.0141	0.0037	0.0005	0.0058	0.0061	0.0024	0.0201	0.0069598	1076	154602	rs2234051	0.0059	0.0059	0.0055	0.0063	0.0183	0.0058	0.0057	0.0175	0.0172	0.0115	0.0037	0.0129	0.0002	0.0049	0.0156	0.0048	0.0074	0.0183	0.0075	0.0075	0.0075	0.0075	0.0179	0.0071	0.0070	0.0149	0.0138	0.0127	0	0.0060	0.0124	0.0008	0.0054	0.0136	0.0045	0.0104	0.0179	0.002	0.72154	D	0.041	0.55759	D	1.0	0.90584	D	0.992	0.82059	D	0.000001	0.84330	D	0.000000	0.999998	0.58761	D	3.485	0.92608	M	2.54	0.13916	T	-3.49	0.68056	D	0.841	0.87590	-0.8588	0.51348	T	0.117	0.41142	T	10	0.010633409	0.00236	T	.	.	.	0.337	0.65913	.	.	0.604058420995	0.60089	0.7240633238435299	0.72350	0.63514956105	0.57344	0.414871960878	0.27130	T	0.147054	0.48496	T	-0.398731	0.02360	T	-0.33059	0.41403	T	0.0282452344353273	0.01724	T	0.80292	0.45479	T	0.60848224	0.73146	0.5169381	0.72090	0.60848224	0.73148	0.5169381	0.72090	-9.464	0.72206	D	.	.	0.272	0.53793	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.140765	0.86064	28.8	0.99943781286954192	0.99868	0.98958	0.89172	D	AEFBI	0.805068	0.72976	D	0.760793966134483	0.83606	8.061665	0.655872697710517	0.79050	7.000918	0.999999795410096	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	6.396000	0.73161	3.297000	0.37352	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.832	0.92114	376	0.83959	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012601	0.010101	0.013587	0.011696	0.000000	0.008621	0.015337	0.022727	0.08333	1313.83	34	chr6	35118495	.	C	T	1313.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=249;ExcessHet=0;FS=3.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=0.438;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	5	0	1	0
chr6	35118498	35118498	T	C	exonic	TCP11	.	nonsynonymous SNV	TCP11:NM_001366329:exon8:c.A860G:p.Q287R,TCP11:NM_001261818:exon9:c.A1184G:p.Q395R,TCP11:NM_001261819:exon9:c.A1169G:p.Q390R,TCP11:NM_001366324:exon9:c.A1097G:p.Q366R,TCP11:NM_001366326:exon9:c.A947G:p.Q316R,TCP11:NM_001366327:exon9:c.A860G:p.Q287R,TCP11:NM_001366328:exon9:c.A860G:p.Q287R,TCP11:NM_001261817:exon10:c.A1268G:p.Q423R,TCP11:NM_001366323:exon10:c.A1094G:p.Q365R,TCP11:NM_001370687:exon10:c.A1283G:p.Q428R,TCP11:NM_018679:exon10:c.A1097G:p.Q366R,TCP11:NM_001261820:exon11:c.A1094G:p.Q365R,TCP11:NM_001261821:exon11:c.A1094G:p.Q365R,TCP11:NM_001366331:exon11:c.A680G:p.Q227R	.	433	1050	36	3	0	42	0.0196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	0.0085	0.00998403	0.0081	0.0142	0.0038	0.0005	0.0059	0.0062	0.0024	0.0202	0.0069469	1074	154602	rs115171214	0.0059	0.0059	0.0054	0.0063	0.0183	0.0058	0.0057	0.0175	0.0172	0.0114	0.0037	0.0129	0.0002	0.0049	0.0156	0.0048	0.0073	0.0183	0.0074	0.0074	0.0074	0.0074	0.0180	0.0071	0.0069	0.0149	0.0138	0.0126	0	0.0057	0.0124	0.0008	0.0054	0.0136	0.0045	0.0099	0.0180	0.041	0.52492	D	0.009	0.66756	D	0.589	0.90584	P	0.439	0.78936	B	0.000030	0.55875	D	0.072709	0.955508	0.37928	D	3.005	0.85968	M	2.75	0.11622	T	-2.29	0.50992	N	0.275	0.37093	-1.0054	0.28337	T	0.053	0.22655	T	10	0.005749196	0.00128	T	.	.	.	0.234	0.53644	.	.	0.482646159919	0.47895	0.1947391040339133	0.19391	0.378931172671	0.39296	0.382598400116	0.22624	T	0.001682	0.01111	T	-0.50118	0.00563	T	-0.47775	0.24685	T	0.0563423898512908	0.06580	T	0.868913	0.57669	D	0.24921314	0.47915	0.3239677	0.58324	0.24921314	0.47914	0.3239677	0.58323	-5.926	0.49836	T	.	.	0.118	0.24833	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.273914	0.65055	24.8	0.99787444689369775	0.87396	0.95996	0.67064	D	AEFBI	0.759736	0.69798	D	0.423029136917692	0.62691	4.489211	0.369030580838388	0.59662	4.145987	0.877821284110971	0.25553	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	4.603000	0.60812	6.130000	0.53904	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	15.141	0.72291	376	0.83959	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.015152	0.013587	0.011696	0.000000	0.008621	0.018405	0.022727	0.08333	1316.83	34	chr6	35118498	.	T	C	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.163;DP=246;ExcessHet=0;FS=2.004;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.618;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	5	0	1	0
chr6	35795774	35795774	C	T	exonic	CLPS	.	nonsynonymous SNV	CLPS:NM_001832:exon2:c.G164A:p.R55H,CLPS:NM_001252597:exon3:c.G122A:p.R41H	.	395	1115	12	0	0	12	0.00535236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0246068335606	0.0030	0.00159744	0.0035	0.0004	0.0041	0	0.0003	0.0050	0.0056	0.0017	0.0031824	492	154602	rs142530335	0.0022	0.0026	0.0021	0.0023	0.0136	0.0022	0.0021	0.0111	0.0103	0.0008	0.0034	0.0411	2.519e-05	0.0003	0.0136	0.0013	0.0046	0.0020	0.0027	0.0031	0.0026	0.0029	0.0050	0.0025	0.0024	0.0041	0.0037	0.0003	0	0.0050	0.0454	0	0.0006	0.0068	0.0021	0.0052	0.0019	0.119	0.28026	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.000000	0.999411	0.46970	D	1.895	0.50365	L	1.39	0.33842	T	-2.29	0.50992	N	0.755	0.75374	-0.8915	0.48802	T	0.171	0.51229	T	10	0.0194228	0.00434	T	0.024607	0.47597	T	0.244	0.55061	.	.	0.616015083648	0.61291	0.7446778601123446	0.74413	1.28444644439	0.82614	0.35718485713	0.18975	T	0.05958	0.62971	T	-0.373445	0.03423	T	-0.31194	0.43451	T	0.0324543005068547	0.02380	T	0.735226	0.35154	T	0.13768709	0.31871	0.115455404	0.27872	0.13768709	0.31871	0.115455404	0.27871	-5.186	0.38799	T	.	.	0.426	0.60978	A	.;.	.;.	4.761511	0.76982	26.6	0.99932089132191992	0.99439	0.95114	0.63489	D	AEFDGBI	0.758000	0.69678	D	0.593746397708769	0.72783	5.860412	0.514150258135482	0.68939	5.290085	0.996692233432076	0.34934	0.569682	0.32691	0	0.59043	0.45803	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	3.450000	0.52720	7.555000	0.60355	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.242000	0.23054	0.0:1.0:0.0:0.0	15.513	0.75532	485	0.77085	Colipase, N-terminal;Colipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.024457	0.002924	0.000000	0.008621	0.009146	0.011364	0.08333	1076.83	35	chr6	35795774	.	C	T	1076.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.481;DP=317;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.099;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	5	0	1	0
chr6	36107459	36107459	C	T	exonic	MAPK14	.	nonsynonymous SNV	MAPK14:NM_139014:exon10:c.C767T:p.S256L	.	441	1075	5	1	0	7	0.00324525	.	.	.	3985314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.00648304978898	7.7e-05	0.000199681	7.606e-05	0.0003	0.0004	0	0	0	0	6.933e-05	6.47e-05	10	154602	rs147327671	2.168e-05	3.078e-05	2.287e-05	2.047e-05	0.0004	1.538e-05	1.335e-05	0.0001	0.0001	0.0002	0.0003	0	5.392e-05	0	0.0004	3.728e-06	8.772e-05	2.786e-05	9.852e-05	9.844e-05	8.995e-05	0.0001	0.0003	6.004e-05	4.878e-05	0.0001	8.436e-05	0.0002	0	0.0003	0	0.0002	0	0	0	0	0	0.198	0.20532	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	-0.09	0.64086	T	-1.11	0.28703	N	0.187	0.20395	-0.9924	0.31985	T	0.060	0.25200	T	8	0.043002993	0.03105	T	0.006483	0.17072	T	0.178	0.44724	.	.	0.600583322129	0.59740	.	.	.	.	.	.	.	.	.	.	-0.223846	0.17472	T	-0.248797	0.49935	T	0.0385381239912507	0.03428	T	0.479552	0.14466	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.093	0.13969	B	.	.	0.252625	0.06316	2.777	0.95402554091720748	0.26857	0.06919	0.12945	N	AEFGBI	0.016052	0.00339	N	-1.06621930904539	0.07273	0.3373651	-1.09793568175175	0.07740	0.3777329	0.999994589843534	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	-6.45	0.01743	-1.208000	0.03115	-6.849000	0.01291	-0.182000	0.10109	0.011000	0.18532	0.000000	0.08366	0.869000	0.41347	0.0:0.2074:0.2695:0.5231	10.382	0.43298	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	940.04	40	chr6	36107459	.	C	T	940.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.33;SOR=2.019	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	5	1	0	0
chr6	36963873	36963873	C	G	exonic	PI16	.	nonsynonymous SNV	PI16:NM_153370:exon6:c.C1321G:p.P441A,PI16:NM_001199159:exon7:c.C1321G:p.P441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00391011613149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.07	0.43721	T	0.243	0.30970	B	0.054	0.25828	B	0.830933	0.06941	N	1.094980	1	0.08975	N	1.78	0.46185	L	3.22	0.07024	T	-0.8	0.22078	N	0.229	0.25745	-0.9143	0.46311	T	0.006	0.02168	T	10	0.078158796	0.12424	T	0.00391	0.09211	T	0.016	0.02506	0.455	0.51938	0.230578612272	0.22657	0.16519078818047536	0.16439	0.304447295284	0.32750	0.28757494688	0.08570	T	0.008939	0.08170	T	-0.291157	0.09520	T	-0.656004	0.08539	T	0.0558541706268698	0.06499	T	0.466353	0.13696	T	0.037378915	0.04780	0.029669136	0.01330	0.037378915	0.04780	0.029669136	0.01330	-5.266	0.39606	T	.	.	0.064	0.01577	B	.;.;.	.;.;.	-0.196059	0.03111	0.494	0.89631702621279741	0.18964	0.03395	0.08508	N	AEFDGBI	0.040758	0.06105	N	-0.768422788117701	0.14137	0.7018532	-0.829361614471576	0.13784	0.7169674	0.999995793504319	0.74766	0.615755	0.39536	0	0.616935	0.53198	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	4.97	2.18	0.26813	-0.275000	0.08557	-1.825000	0.04657	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.6472:0.1686:0.1842	5.249	0.14829	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.83	38	chr6	36963873	.	C	G	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.12;SOR=0.749	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr6	38815553	38815553	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon25:c.A2768G:p.H923R,DNAH8:NM_001206927:exon26:c.A3419G:p.H1140R	.	425	1094	3	0	0	3	0.00136924	.	.	.	239913	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	.	0.00798722	0.0041	0	0.0004	0	0	3.002e-05	0.0011	0.0298	0.0035963	556	154602	rs377516809	0.0017	0.0017	0.0009	0.0025	0.0281	0.0017	0.0016	0.0272	0.0268	8.962e-05	0	0	2.52e-05	0	0.0007	1.169e-05	0.0013	0.0281	0.0009	0.0009	0.0006	0.0012	0.0278	0.0008	0.0007	0.0240	0.0225	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0278	0.422	0.09776	T	.	.	.	0.017	0.17573	B	0.003	0.08700	B	0.000081	0.52346	D	0.130506	0.662714	0.33067	D	1.21	0.30464	L	0.35	0.58029	T	-0.73	0.23372	N	0.449	0.48689	-1.1100	0.03070	T	0.037	0.15899	T	10	0.008993506	0.00203	T	.	.	.	0.128	0.35103	.	.	0.717392553567	0.71491	0.3847445113683057	0.38389	0.150328258347	0.16959	0.497708946466	0.38508	T	0.002196	0.01594	T	-0.389989	0.02691	T	-0.312019	0.43441	T	0.0345090785547442	0.02725	T	0.727427	0.34191	T	0.1872681	0.40174	0.1703512	0.39137	0.18060398	0.39190	0.16675694	0.38506	-2.182	0.03954	T	.	.	0.209	0.50025	B	.;.;.	.;.;.	2.791086	0.36690	20.3	0.95934945667142713	0.28225	0.95366	0.64440	D	AEFBI	0.735864	0.68155	D	-0.210741246795145	0.32693	1.846498	0.0459148333360851	0.41875	2.523123	0.999861014243844	0.44398	0.623552	0.39893	0	0.610034	0.51514	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	6.425000	0.73295	8.048000	0.76344	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.28	0.65756	490	0.76723	.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.1667	2023.04	36	chr6	38815553	.	A	G	2023.04	.	AC=2;AF=0.167;AN=12;DP=250;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.49;SOR=0.779	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	1	0	0
chr6	39012311	39012311	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon89:c.C12817T:p.R4273C,DNAH8:NM_001206927:exon90:c.C13468T:p.R4490C	.	434	1083	5	0	0	5	0.00230309	.	.	.	239935	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.414	.	7.7e-05	0.0115815	0.0050	0.0003	0.0008	0.0116	0.0002	0.0002	0.0022	0.0293	0.0044631	690	154602	rs78849281	0.0028	0.0028	0.0020	0.0035	0.0339	0.0027	0.0027	0.0323	0.0317	0.0002	6.71e-05	0	0.0339	9.365e-05	0.0007	8.281e-05	0.0021	0.0285	0.0016	0.0016	0.0012	0.0020	0.0294	0.0014	0.0014	0.0255	0.0240	0.0001	0	0.0002	0	0.0158	0.0003	0	8.821e-05	0.0009	0.0294	0.001	0.78490	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	2.84	0.10674	T	-7.43	0.94843	D	0.808	0.83371	-0.7568	0.57578	T	0.119	0.41799	T	10	0.0075264275	0.00171	T	.	.	.	0.414	0.72479	.	.	0.617481672061	0.61438	0.7577948668358869	0.75727	0.673258825652	0.59583	0.602618634701	0.53275	T	0.255742	0.62657	T	-0.187723	0.22592	T	-0.000691574	0.70290	D	0.143817794314389	0.16600	T	0.957104	0.83854	D	0.7857521	0.83009	0.6811706	0.81264	0.8037435	0.84147	0.5543644	0.74227	-10.566	0.77225	D	.	.	0.405	0.66854	A	.;.	.;.	3.699783	0.52758	23.3	0.99846909662126826	0.92663	0.96428	0.69091	D	AEFBI	0.425123	0.49002	N	0.904629227555576	0.91984	11.17057	0.810583749138536	0.90519	10.44474	0.0613127230988003	0.15227	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.16	5.27	0.73797	1.399000	0.34175	3.267000	0.37132	0.599000	0.40250	0.998000	0.41325	0.998000	0.33993	0.984000	0.60418	0.2627:0.7373:0.0:0.0	14.579	0.67871	703	0.57489	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.022727	0.1667	3594.04	40	chr6	39012311	.	C	T	3594.04	.	AC=2;AF=0.167;AN=12;DP=301;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.97;SOR=1.308	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	5	1	0	0
chr6	39066240	39066240	C	T	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon5:c.C446T:p.T149M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.127872574067	.	.	8.283e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs367543060	7.531e-06	8.893e-06	6.813e-06	8.256e-06	5.977e-05	4.04e-06	2.95e-06	9.9e-06	3.7e-06	5.977e-05	2.236e-05	0	2.519e-05	1.873e-05	0	3.601e-06	1.657e-05	1.16e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000551	0.43413	D	0.101247	0.999991	0.58761	D	3.385	0.91502	M	1.18	0.37746	T	-5.53	0.86073	D	0.881	0.87917	-0.5012	0.68607	T	0.221	0.58447	T	10	0.94713473	0.94040	D	0.127873	0.80974	D	0.550	0.81369	0.801	0.92017	0.870820795557	0.86956	0.7451890271405882	0.74464	1.35666730936	0.84197	0.66239708662	0.61752	T	0.586761	0.86551	D	0.224228	0.76177	D	0.181165	0.82060	D	0.993109464645386	0.83778	D	0.979202	0.92760	D	0.63719887	0.74681	0.65198576	0.79634	0.63719887	0.74683	0.65198576	0.79635	-8.741	0.66014	D	.	.	0.415	0.60383	A	.	.	5.389995	0.90303	31	0.9992550097421099	0.99042	0.98606	0.84623	D	AEFDBI	0.779358	0.71158	D	0.819907669839004	0.87332	9.18224	0.736853076771669	0.85172	8.501885	0.999999437412438	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.65	4.65	0.57626	7.410000	0.79281	7.527000	0.59855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	15.795	0.78173	797	0.45241	GPCR, family 2-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	.	.	.	.	.	.	.	.	0.08333	1068.83	41	chr6	39066240	.	C	T	1068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.458;DP=254;ExcessHet=0;FS=3.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.199;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	5	0	1	0
chr6	39086015	39086015	G	C	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon13:c.G1334C:p.S445T	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	.	0.00319489	0.0020	0	0.0003	0	0	3.002e-05	0.0011	0.0147	0.0017917	277	154602	rs201672448	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	0	2.236e-05	0	7.557e-05	0	0.0005	5.396e-06	0.0009	0.0150	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0147	0.207	0.19854	T	0.125	0.35330	T	0.022	0.18677	B	0.004	0.10090	B	0.000017	0.62929	D	0.072732	0.999056	0.45965	D	2.78	0.81115	M	0.7	0.51474	T	-1.04	0.27259	N	0.089	0.06720	-1.0108	0.26666	T	0.097	0.36522	T	10	0.0060991645	0.00137	T	.	.	.	0.097	0.27909	.	.	0.742283290031	0.73996	0.4908779703742634	0.49007	0.649209194799	0.58240	0.331426739693	0.15150	T	0.289449	0.66224	T	-0.43353	0.01412	T	-0.383188	0.35348	T	0.0655294104330482	0.08010	T	0.630737	0.24588	T	0.1698624	0.37527	0.27198887	0.53105	0.1698624	0.37527	0.27198887	0.53104	-3.526	0.16798	T	.	.	0.068	0.02894	B	.	.	2.328705	0.29829	18.25	0.95904166326164608	0.28139	0.94453	0.61214	D	AEFDBI	0.638283	0.61675	D	0.0388317285984963	0.43630	2.652185	0.188912085073855	0.49238	3.129465	0.999999161915244	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	5.695000	0.67940	9.268000	0.79613	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.710	0.96085	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.015152	0.1667	2677.04	36	chr6	39086015	.	G	C	2677.04	.	AC=2;AF=0.167;AN=12;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.87;SOR=1.013	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	5	1	0	0
chr6	39357375	39357375	C	T	splicing	KIF6	NM_001289024:exon6:c.436-1G>A;NM_001289021:exon18:c.1915-1G>A;NM_001289020:exon18:c.2032-1G>A;NM_145027:exon19:c.2083-1G>A;NM_001351566:exon6:c.436-1G>A	.	.	.	419	1102	1	0	0	1	0.000453515	0.9999	0.912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.301e-05	0	8.64e-05	0	0	3.001e-05	0	6.1e-05	2.59e-05	4	154602	rs761988781	5.575e-05	5.815e-05	6.031e-05	5.115e-05	0.0002	4.571e-05	4.181e-05	0.0001	0.0001	6.011e-05	0.0002	0	2.522e-05	0	0.0002	5.615e-05	3.329e-05	2.327e-05	4.602e-05	4.596e-05	2.571e-05	6.729e-05	6.537e-05	2.11e-05	1.528e-05	7.99e-06	2.99e-06	4.821e-05	0	6.537e-05	0	0	0	0.0103	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410516	0.57184	T	0.0762372	0.75327	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.567540	0.92191	32	0.99257739754461993	0.57088	0.88127	0.47919	D	AEFBI	.	.	.	0.880452966789985	0.90770	10.557	0.66825611397018	0.79976	7.197712	0.391048757288234	0.20047	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.960863	0.65727	4.62	4.62	0.56946	2.106000	0.41459	7.112000	0.57569	0.596000	0.33519	0.994000	0.38300	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.139	0.58844	907	0.22727	.;.;.;.	.	.	.	.	.	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	930.83	42	chr6	39357375	.	C	T	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=264;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.29;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1237	5	0	1	0
chr6	39879350	39879350	C	T	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1718T:p.P573L,DAAM2:NM_015345:exon14:c.C1718T:p.P573L	.	409	1096	16	1	0	18	0.0081448	.	.	.	699578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.272	.	.	0.00459265	0.0034	0.0006	0.0019	0.0106	0	0.0001	0.0059	0.0182	0.0028978	448	154602	rs199956358	0.0015	0.0015	0.0011	0.0019	0.0168	0.0014	0.0014	0.0161	0.0158	0.0002	0.0011	3.847e-05	0.0071	0	0.0023	7.294e-05	0.0045	0.0168	0.0012	0.0012	0.0008	0.0015	0.0158	0.0010	0.0010	0.0129	0.0119	0.0007	0	0.0005	0	0.0118	0	0	5.881e-05	0.0005	0.0158	0.005	0.63226	D	0.003	0.79402	D	0.009	0.15093	B	0.007	0.12992	B	0.000459	0.44317	D	0.194831	1	0.81001	D	0.975	0.24501	L	0.86	0.46777	T	-4.21	0.75776	D	0.582	0.68516	-1.0873	0.05995	T	0.035	0.15247	T	10	0.008737445	0.00198	T	.	.	.	0.272	0.58758	.	.	0.707499504505	0.70495	0.29680205181803404	0.29593	0.172399373927	0.19416	0.639637470245	0.58512	T	0.118516	0.59213	T	-0.275222	0.11180	T	-0.152518	0.59019	T	0.0833992851514409	0.10417	T	0.794521	0.43681	T	0.17288756	0.38005	0.18540746	0.41651	0.17288756	0.38005	0.18540746	0.41651	-6.662	0.51523	T	.	.	0.104	0.18787	B	.;.;.;.	.;.;.;.	4.177147	0.62853	24.5	0.99677472132365275	0.79043	0.98119	0.79760	D	AEFDBI	0.803731	0.72879	D	-0.247381216631754	0.31208	1.747624	-0.0847487457528862	0.36019	2.090972	0.99999999989969	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.792000	0.84405	7.533000	0.59948	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.9126:0.0:0.0874	10.864	0.46054	665	0.61472	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.08333	1564.83	34	chr6	39879350	.	C	T	1564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.252;DP=273;ExcessHet=0;FS=3.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.347;SOR=0.886	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1575,0,1090	5	0	1	0
chr6	39879377	39879377	C	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1745A:p.P582H,DAAM2:NM_015345:exon14:c.C1745A:p.P582H	.	412	1108	2	0	0	2	0.000901713	.	.	YES	1052578	Nephrotic_syndrome,_type_24|Idiopathic_multidrug-resistant_nephrotic_syndrome|DAAM2-related_disorder	MONDO:MONDO:0031008,MedGen:C5543267,OMIM:619263,Orphanet:567548|MONDO:MONDO:0035459,MedGen:C5681293,Orphanet:567550|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.285	0.0905402101808	0.0018	0.000399361	0.0013	0.0018	0.0034	0.0001	0	0.0015	0.0011	6.222e-05	0.0013519	209	154602	rs150676991	0.0016	0.0016	0.0016	0.0015	0.0106	0.0015	0.0015	0.0085	0.0077	0.0024	0.0037	0.0031	0	1.873e-05	0.0106	0.0016	0.0028	8.121e-05	0.0018	0.0018	0.0019	0.0017	0.0044	0.0016	0.0016	0.0035	0.0032	0.0023	0	0.0044	0.0032	0	0	0.0068	0.0012	0.0085	0	0.002	0.72154	D	0.001	0.83351	D	0.38	0.34363	B	0.159	0.34693	B	0.001370	0.39242	N	0.215647	0.999946	0.51968	D	0.695	0.17993	N	-1.81	0.83970	D	-1.95	0.45222	N	0.284	0.33687	-0.3869	0.72439	T	0.268	0.63929	T	10	0.007640302	0.00173	T	0.09054	0.75537	D	0.285	0.60338	.	.	0.394843243715	0.39102	0.3151895226224082	0.31431	0.254211787793	0.27987	0.366510331631	0.20331	T	0.218575	0.60994	T	-0.289319	0.09705	T	-0.186029	0.55961	T	0.0323172723303528	0.02357	T	0.688631	0.29780	T	0.15293072	0.34691	0.21806686	0.46496	0.15293072	0.34690	0.21806686	0.46495	-7.224	0.55653	T	.	.	0.084	0.11510	B	.;.;.;.	.;.;.;.	4.224526	0.63925	24.6	0.99501138588767846	0.68031	0.98292	0.81328	D	AEFDBI	0.678329	0.64273	D	0.0503878444063809	0.44161	2.695192	0.188204359391202	0.49199	3.126098	0.999999999981214	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	1.869000	0.39156	5.900000	0.50875	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.761000	0.36181	0.0:0.9199:0.0:0.0801	13.025	0.58214	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.065657	0.017663	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	798.83	34	chr6	39879377	.	C	A	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.519;DP=245;ExcessHet=0;FS=4.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.13;SOR=1.322	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr6	40432267	40432267	C	G	exonic	LRFN2	.	nonsynonymous SNV	LRFN2:NM_020737:exon2:c.G847C:p.E283Q	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0611415919989	.	.	3.323e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs767185588	2.121e-05	2.121e-05	6.807e-06	3.576e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	0.0003	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	4.26	0.02538	T	-2.9	0.60827	D	0.71	0.71321	-1.1590	0.00781	T	0.027	0.11663	T	10	0.8531865	0.84504	D	0.061142	0.68235	D	0.384	0.70112	0.828	0.93851	0.717838396926	0.71535	0.8174320254164822	0.81700	1.07930694633	0.77089	0.66363132	0.61928	T	0.572167	0.85852	D	-0.159009	0.26914	T	-0.165858	0.57822	T	0.461740087416314	0.31228	T	0.992501	0.97571	D	0.70366234	0.78258	0.57298315	0.75268	0.70366234	0.78259	0.57298315	0.75268	-9.784	0.72607	D	.	.	0.561	0.67276	A	.	.	4.683204	0.74965	26.2	0.99828905972103954	0.91112	0.98606	0.84623	D	AEFBI	0.948796	0.96080	D	0.855659448446864	0.89428	9.967748	0.833590901693912	0.92021	11.19381	0.999999999964821	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.900000	0.86025	7.679000	0.65195	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.104	0.89444	946	0.12043	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1512.83	37	chr6	40432267	.	C	G	1512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=323;ExcessHet=0;FS=1.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.61;SOR=0.527	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,104,1751	5	0	1	0
chr6	41158734	41158734	C	T	exonic	TREM2	.	nonsynonymous SNV	TREM2:NM_001271821:exon4:c.G529A:p.E177K	Nasu-Hakola disease, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	300113	TREM2-related_disorder|Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2|not_provided	.|MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	7.7e-05	0.00938498	0.0049	9.619e-05	0.0002	0.0014	0	2.999e-05	0.0033	0.0349	0.0043337	670	154602	rs75272959	0.0022	0.0022	0.0014	0.0031	0.0331	0.0021	0.0021	0.0321	0.0317	5.974e-05	4.472e-05	0	0.0034	0	0.0005	2.518e-05	0.0033	0.0331	0.0011	0.0011	0.0006	0.0017	0.0319	0.0010	0.0009	0.0278	0.0262	4.812e-05	0	0	0	0.0023	0	0	2.94e-05	0.0005	0.0319	.	.	.	0.34	0.18018	T	0.218	0.30213	B	0.058	0.26451	B	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	.	.	.	0.082	0.05799	-0.9609	0.39012	T	0.008	0.02679	T	7	0.0023650825	0.00035	T	.	.	.	.	.	.	.	0.158396225186	0.15383	.	.	.	.	.	.	.	.	.	.	-0.679207	0.00049	T	-0.72195	0.04702	T	0.000528752692815193	0.00004	T	0.369163	0.08660	T	.	.	.	.	.	.	.	.	-3.744	0.19970	T	.	.	0.080	0.07937	B	.	.	-0.042338	0.03999	0.909	0.59247162826128863	0.06180	0.01504	0.04979	N	AEFDBI	0.046103	0.07616	N	-1.38611689127698	0.02767	0.122667	-1.46725577555552	0.02617	0.1206949	0.994887715536847	0.33846	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.74	-0.933	0.09900	-0.727000	0.05034	-0.498000	0.08819	-0.982000	0.01892	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4289:0.3151:0.1514:0.1046	2.170	0.03611	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2218.83	142	chr6	41158734	.	C	T	2218.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.607;DP=329;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.08;SOR=0.451	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	5	0	1	0
chr6	41194551	41194551	T	A	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon3:c.A659T:p.D220V	.	423	1090	7	2	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00466637289067	.	0.000998403	0.0012	9.825e-05	0.0004	0	0	4.54e-05	0	0.0082	0.0009638	149	154602	rs531665321	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0090	0.0088	2.987e-05	4.472e-05	0	2.519e-05	0	0.0019	3.417e-05	0.0006	0.0095	0.0003	0.0002	5.162e-05	0.0005	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	0	0	0	0	0	1.474e-05	0	0.0078	0.155	0.24183	T	0.158	0.31629	T	0.017	0.17573	B	0.007	0.12992	B	0.985788	0.07870	N	1.007950	0.999999	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.18	0.05035	N	0.057	0.02861	-0.9042	0.47538	T	0.004	0.01400	T	10	0.0045382977	0.00094	T	0.004666	0.11566	T	0.017	0.02790	0.295	0.25881	0.152612264143	0.14878	0.3498052761955854	0.34894	0.298096867107	0.32188	0.244690015912	0.03229	T	0.001453	0.00908	T	-0.699384	0.00037	T	-0.771843	0.02708	T	0.00828773769766304	0.00100	T	0.515049	0.16594	T	0.070450164	0.15517	0.045661457	0.06193	0.070450164	0.15517	0.045661457	0.06193	-2.529	0.05983	T	.	.	0.101	0.17445	B	.	.	0.504523	0.08736	5.510	0.52225886284445622	0.04708	0.02196	0.06414	N	AEFBI	0.037214	0.05083	N	-1.13709118895634	0.05995	0.2748214	-1.16486796287329	0.06505	0.3133402	0.113165199167976	0.16702	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.92	0.988	0.18914	0.425000	0.21065	1.781000	0.28717	-0.249000	0.07183	0.012000	0.18695	0.065000	0.22112	0.029000	0.12982	0.1094:0.0:0.4962:0.3944	4.583	0.11663	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	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	800.83	38	chr6	41194551	.	T	A	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.62;DP=236;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.978;SOR=0.99	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	5	0	1	0
chr6	41771110	41771110	G	T	exonic	FRS3	.	nonsynonymous SNV	FRS3:NM_006653:exon7:c.C988A:p.P330T	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0774967448522	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773006648	1.89e-05	1.915e-05	1.107e-05	2.69e-05	0.0002	1.294e-05	1.109e-05	0.0001	8.359e-05	0	0	0	0	0	0	1.097e-05	1.698e-05	0.0002	6.575e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.495	0.72670	M	0.98	0.42122	T	-3.25	0.65283	D	0.738	0.73826	-0.7151	0.59702	T	0.209	0.56919	T	10	0.76224446	0.76435	D	0.077497	0.72785	D	0.325	0.64725	0.35	0.34760	0.468098961252	0.46438	0.5449565335199511	0.54421	0.906391183436	0.70865	0.781323969364	0.79126	T	0.560468	0.85278	D	-0.109184	0.34903	T	-0.0942874	0.63836	T	0.804900884628296	0.46690	D	0.959504	0.84742	D	0.5804874	0.71635	0.49831277	0.70992	0.5804874	0.71636	0.49831277	0.70992	-7.898	0.60373	D	.	.	0.393	0.63239	A	.;.	.;.	4.006247	0.59070	24.1	0.99800757548361918	0.88550	0.99032	0.90231	D	AEFDBI	0.837260	0.75491	D	0.800965775932689	0.86168	8.799141	0.781635077860052	0.88487	9.601172	0.999999996105805	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	7.808000	0.84594	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	18.985	0.92742	421	0.81399	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.83	64	chr6	41771110	.	G	T	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.587;DP=239;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.463;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	5	0	1	0
chr6	42105511	42105511	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G2401A:p.V801M	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00119808	0.0047	0	0.0107	0	0	0	0.0063	0.0084	0.0004916	76	154602	rs559521854	0.0004	0.0004	0.0002	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	0	5.615e-05	0	2.805e-05	0	0.0009	2.601e-05	0.0003	0.0071	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0054	0.008	0.58626	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.73	0.50721	T	-1.36	0.33798	N	0.062	0.03392	-1.0430	0.16413	T	0.073	0.29578	T	7	0.003575921	0.00065	T	.	.	.	0.090	0.26093	0.172	0.07774	0.0297737177859	0.01360	0.08374329932447842	0.08308	.	.	.	.	.	0.007833	0.07211	T	-0.534194	0.00363	T	-0.535263	0.18765	T	0.0391456030627107	0.03536	T	0.483452	0.14697	T	0.050040357	0.08978	0.07009644	0.14850	0.050040357	0.08978	0.07009644	0.14850	-4.917	0.35925	T	.	.	0.104	0.18828	B	.	.	1.332346	0.17377	13.13	0.99695535115203382	0.80248	0.15704	0.19041	N	AEFDBHCI	0.106924	0.21319	N	-0.433745422141402	0.24294	1.310773	-0.545429437232661	0.20926	1.129727	0.999999999272299	0.74766	0.631981	0.41245	0	0.563428	0.19063	0	0.779548	0.98927	0	0.562822	0.20929	0	.	.	3.38	3.38	0.37806	-0.013000	0.12615	-0.581000	0.08376	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:1.0:0.0:0.0	10.557	0.44312	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001259	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.025000	0.08333	560.83	38	chr6	42105511	.	C	T	560.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=212;ExcessHet=0;FS=3.009;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.215;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	5	0	1	0
chr6	42269439	42269439	G	A	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.C152T:p.S51L,TRERF1:NM_033502:exon5:c.C152T:p.S51L	.	.	.	.	.	.	.	.	.	.	.	2392227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0265358886035	0.0005	0.000399361	0.0003	0.0002	0	0	0	0.0005	0	0.0002	0.0002975	46	154602	rs201817030	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0002	4.472e-05	0	0	1.872e-05	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0003	0	0	0	0.0002	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	0.033	0.64786	D	0.998	0.90584	D	0.96	0.84481	D	0.000058	0.53742	D	0.000000	0.999987	0.54805	D	0.805	0.20218	L	2.08	0.26588	T	-2.63	0.60348	D	0.648	0.70527	-1.0361	0.18513	T	0.093	0.35363	T	10	0.26162845	0.43624	T	0.026536	0.49438	D	0.235	0.53788	.	.	0.479604954264	0.47592	0.5226846532534771	0.52191	0.515395677199	0.49451	0.50862544775	0.40029	T	0.027765	0.27536	T	-0.101764	0.36132	T	-0.0175115	0.69193	D	0.135559218578537	0.15886	T	0.956404	0.83469	D	0.42124164	0.62175	0.43003365	0.66666	0.42124164	0.62175	0.43003365	0.66666	-3.774	0.20939	T	.	.	0.287	0.53777	B	.;.;.;.	.;.;.;.	4.505486	0.70502	25.5	0.99917373798101572	0.98518	0.89315	0.49705	D	AEFDGBHCI	0.639483	0.61752	D	0.648829249233163	0.76294	6.459804	0.674545871386215	0.80451	7.301595	0.999999985558335	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	5.771000	0.68535	9.944000	0.82678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.674	0.95917	873	0.30802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2308.83	39	chr6	42269439	.	G	A	2308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.58;DP=378;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.215;SOR=0.867	GT:AD:DP:GQ:PL	0/1:105,85:190:99:2319,0,2600	5	0	1	0
chr6	43038278	43038278	G	T	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon25:c.C4858A:p.L1620I,CUL7:NM_001374872:exon25:c.C4858A:p.L1620I,CUL7:NM_001374873:exon25:c.C4774A:p.L1592I,CUL7:NM_001374874:exon25:c.C4759A:p.L1587I,CUL7:NM_014780:exon25:c.C4762A:p.L1588I	3-M syndrome 1, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	YES	193056	3M_syndrome_1|not_specified|not_provided	MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.592	.	0.0065	0.00559105	0.0081	0.0016	0.0076	0	0.0155	0.0116	0.0057	0.0002	0.0080206	1240	154602	rs147493246	0.0087	0.0087	0.0088	0.0086	0.0097	0.0086	0.0085	0.0095	0.0094	0.0012	0.0070	0.0054	0	0.0169	0.0024	0.0097	0.0082	0.0005	0.0071	0.0071	0.0069	0.0073	0.0098	0.0067	0.0066	0.0092	0.0089	0.0017	0.0022	0.0098	0.0063	0	0.0129	0	0.0098	0.0147	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.082079	0.20829	N	0.485095	0.999985	0.54805	D	2.485	0.72352	M	-2.28	0.87750	D	-1.32	0.32991	N	0.618	0.66615	0.563	0.91411	D	0.740	0.91102	D	10	0.010615438	0.00236	T	.	.	.	0.592	0.83747	.	.	0.916836334221	0.91599	0.498244454755583	0.49745	0.803644422357	0.66363	0.626336634159	0.56626	T	0.529126	0.83673	D	-0.177164	0.24159	T	-0.016872	0.69234	D	0.0322834929675525	0.02352	T	0.931607	0.75038	D	0.2859538	0.51614	0.35068175	0.60673	0.23361786	0.46169	0.35068175	0.60673	-9.717	0.72200	D	0.6524050999820115	0.72474	0.295	0.55082	B	.;.	.;.	4.690317	0.75145	26.3	0.99653260477804639	0.77442	0.95454	0.64785	D	AEFBCI	0.550190	0.56276	D	0.710835064103553	0.80343	7.273295	0.697589215546845	0.82194	7.70747	0.999999999989499	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.879000	0.62792	11.886000	0.98962	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.382	0.90399	178	0.93097	Cullin protein, neddylation domain;.	.	.	.	.	rs147493246	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.020202	0.002717	0.000000	0.000000	0.025862	0.000000	0.000000	0.08333	4247.83	39	chr6	43038278	.	G	T	4247.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.128;DP=491;ExcessHet=0;FS=0.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.53;SOR=0.657	GT:AD:DP:GQ:PL	0/1:147,152:299:99:4258,0,3954	5	0	1	0
chr6	43038670	43038670	A	G	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon24:c.T4559C:p.L1520P,CUL7:NM_001374872:exon24:c.T4559C:p.L1520P,CUL7:NM_001374873:exon24:c.T4463C:p.L1488P,CUL7:NM_001374874:exon24:c.T4460C:p.L1487P,CUL7:NM_014780:exon24:c.T4463C:p.L1488P	3-M syndrome 1, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	300220	CUL7-related_disorder|3M_syndrome_1|not_provided	.|MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.467	.	0.0085	0.00339457	0.0084	0.0018	0.0027	0	0.0110	0.0125	0.0100	0.0031	0.0084928	1313	154602	rs41274912	0.0098	0.0098	0.0100	0.0097	0.0151	0.0097	0.0097	0.0126	0.0116	0.0016	0.0020	0.0020	0	0.0128	0.0151	0.0114	0.0079	0.0036	0.0070	0.0070	0.0071	0.0069	0.0119	0.0067	0.0065	0.0112	0.0109	0.0016	0.0143	0.0016	0.0017	0	0.0114	0.0136	0.0119	0.0047	0.0037	0.002	0.72154	D	0.003	0.76473	D	0.896	0.49324	P	0.583	0.50264	P	0.038709	0.24254	N	0.422584	0.999918	0.51042	D	2.745	0.80253	M	-0.91	0.75001	T	-3.53	0.68999	D	0.764	0.76203	-0.4551	0.70231	T	0.332	0.69910	T	10	0.021950126	0.00536	T	.	.	.	0.467	0.76222	.	.	0.876935651735	0.87573	0.7620949962863651	0.76157	0.767015281994	0.64561	0.426700025797	0.28758	T	0.763068	0.93597	D	-0.29229	0.09408	T	-0.176374	0.56858	T	0.0274856637858186	0.01613	T	0.844715	0.52235	T	0.69196945	0.77618	0.58912283	0.76163	0.7004361	0.78082	0.58912283	0.76164	-10.413	0.76346	D	0.4235947429261565	0.51196	0.531	0.67140	A	.;.	.;.	2.739269	0.35877	20.1	0.99847309441351184	0.92663	0.89040	0.49272	D	AEFDBCI	0.423610	0.48913	N	0.197473028464647	0.51079	3.291953	0.109250219779657	0.45020	2.772761	0.954881515564868	0.28156	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	2.26	0.27418	1.723000	0.37675	0.440000	0.18415	0.756000	0.94297	0.998000	0.41325	0.001000	0.17328	0.764000	0.36293	0.6659:0.1647:0.0:0.1694	6.008	0.18787	178	0.93097	Cullin, N-terminal|Cullin homology domain;.	PEX6|TRERF1	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs41274912	Likely benign	0	0	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	0.010070	0.010101	0.014946	0.008772	0.000000	0.008621	0.009146	0.011364	0.08333	1352.83	39	chr6	43038670	.	A	G	1352.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.695;DP=295;ExcessHet=0;FS=0.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.158;SOR=0.588	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1451	5	0	1	0
chr6	43058233	43058233	T	C	exonic	MRPL2	.	nonsynonymous SNV	MRPL2:NM_001300848:exon2:c.A97G:p.M33V,MRPL2:NM_015950:exon2:c.A97G:p.M33V	.	416	1094	11	1	0	13	0.00590641	0	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.000599042	0.0010	0	0.0004	0.0001	0	0.0007	0.0011	0.0042	0.0008473	131	154602	rs145305278	0.0006	0.0006	0.0005	0.0008	0.0059	0.0006	0.0006	0.0043	0.0038	8.969e-05	0.0005	0	0	5.616e-05	0.0059	0.0004	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0043	0.0003	0.0003	0.0029	0.0024	7.222e-05	0	0.0007	0	0	0	0	0.0004	0	0.0043	1.0	0.00964	T	0.642	0.06925	T	0.0	0.02946	B	0.0	0.01387	B	0.182363	0.17067	N	0.576599	1	0.08975	N	-1.555	0.00461	N	1.09	0.39223	T	0.07	0.06488	N	0.085	0.09349	-0.9447	0.41863	T	0.008	0.02884	T	10	0.0025247633	0.00038	T	0.001947	0.03482	T	0.012	0.01476	.	.	0.249502417897	0.24576	0.3866599245518072	0.38580	0.144387688307	0.16313	0.387368023396	0.23299	T	0.021885	0.16970	T	-0.668485	0.00056	T	-0.733016	0.04192	T	0.0114636722903657	0.00172	T	0.415758	0.10904	T	0.060768057	0.12507	0.041092027	0.04594	0.060768057	0.12506	0.041092027	0.04593	-2.437	0.05365	T	.	.	0.052	0.01810	B	.;.;.;.	.;.;.;.	0.428574	0.07991	4.705	0.6098693870133346	0.06597	0.01649	0.05298	N	AEFBCI	0.042830	0.06694	N	-1.31040730951464	0.03555	0.1590174	-1.18006528448936	0.06244	0.2999148	0.999432029687987	0.39683	0.722319	0.85440	0	0.662677	0.63036	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.99	0.934	0.18602	0.445000	0.21392	0.738000	0.21138	-0.278000	0.06506	0.844000	0.30348	0.997000	0.33255	0.344000	0.25523	0.3006:0.4121:0.0:0.2872	3.431	0.06999	220	0.91454	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	831.83	44	chr6	43058233	.	T	C	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=214;ExcessHet=0;FS=2.836;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.772;SOR=1.207	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1366	5	0	1	0
chr6	43076902	43076902	G	A	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon1:c.G19A:p.G7R	.	416	1102	3	0	1	4	0.00135931	.	.	.	2823047	not_provided|PTK7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.132	.	.	0.0061901	0.0036	0.0057	0.0172	0	0	0.0102	0	0	0.0016623	257	154602	rs139636574	0.0102	0.0097	0.0103	0.0100	0.0115	0.0100	0.0100	0.0113	0.0112	0.0014	0.0075	0.0048	0	0.0178	0.0030	0.0115	0.0099	0.0006	0.0090	0.0090	0.0088	0.0091	0.0132	0.0086	0.0084	0.0120	0.0117	0.0021	0.0022	0.0132	0.0063	0	0.0145	0.0034	0.0127	0.0142	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.87	0.74583	T	-0.24	0.10833	N	0.129	0.12341	-0.9484	0.41245	T	0.119	0.41691	T	8	0.003965497	0.00076	T	.	.	.	0.132	0.35948	0.299	0.26522	0.0675242888579	0.06100	0.1678347992553616	0.16703	0.421350123213	0.42644	0.315058588982	0.12672	T	.	.	.	-0.522502	0.00425	T	-0.512926	0.21015	T	0.0722060694025672	0.08957	T	0.427957	0.11563	T	.	.	.	.	.	.	.	.	-2.759	0.07812	T	.	.	0.090	0.12560	B	.	.	0.917428	0.12921	9.430	0.93434793979861896	0.23209	0.09635	0.15347	N	AEFDBCI	0.074780	0.14999	N	-0.8817684387191	0.11277	0.543324	-0.906701121418943	0.11936	0.6111136	0.999999512845453	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.2	2.4	0.28568	0.879000	0.27783	3.361000	0.37860	-0.135000	0.12811	0.151000	0.23669	0.987000	0.30940	0.039000	0.14166	0.1116:0.2101:0.6784:0.0	5.338	0.15276	268	0.89479	.	.	.	.	.	rs139636574	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	544.83	35	chr6	43076902	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.718;SOR=0.874	GT:AD:DP:GQ:PL	0/1:19,21:40:99:555,0,432	5	0	1	0
chr6	43187980	43187980	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1849A:p.E617K	.	436	1053	33	0	0	33	0.0154278	.	.	.	710526	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.154	.	0.0066	0.00219649	0.0064	0.0018	0.0052	0	0.0032	0.0092	0.0144	0.0028	0.006617	1023	154602	rs145911635	0.0092	0.0092	0.0094	0.0090	0.0198	0.0091	0.0090	0.0168	0.0157	0.0016	0.0052	0.0217	5.038e-05	0.0030	0.0198	0.0103	0.0113	0.0024	0.0064	0.0064	0.0070	0.0057	0.0099	0.0060	0.0059	0.0093	0.0091	0.0013	0	0.0077	0.0205	0	0.0023	0.0238	0.0099	0.0066	0.0015	0.084	0.32929	T	0.445	0.13140	T	0.0	0.02946	B	0.001	0.04355	B	0.054435	0.02061	N	1.879480	1	0.08975	N	0.255	0.09829	N	-0.73	0.73100	T	-0.92	0.24676	N	0.104	0.08786	-0.9962	0.30974	T	0.110	0.39580	T	10	0.003047973	0.00050	T	.	.	.	0.154	0.40340	.	.	0.320526991862	0.31653	0.29360034138945273	0.29273	0.382302591889	0.39563	0.327387154102	0.14539	T	0.099379	0.40414	T	-0.465329	0.00910	T	-0.43337	0.29553	T	0.00907265032461915	0.00114	T	0.69563	0.30512	T	0.04994291	0.08945	0.057893068	0.10604	0.04994291	0.08945	0.057893068	0.10603	-6.217	0.48061	T	.	.	0.074	0.04932	B	.;.	.;.	1.648985	0.21042	15.02	0.99332969980838004	0.59856	0.13633	0.17966	N	AEFBI	0.051366	0.09068	N	-0.640155276472199	0.17747	0.915861	-0.597608556380353	0.19555	1.049719	0.999800144230069	0.43304	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.72	2.9	0.32809	1.739000	0.37842	1.449000	0.26590	0.618000	0.50648	0.566000	0.27473	0.122000	0.22912	0.549000	0.30150	0.1878:0.1703:0.6419:0.0	5.388	0.15527	309	0.87553	.;.	.	.	.	.	.	Likely benign	0	0	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	0.021148	0.005051	0.021739	0.035088	0.000000	0.034483	0.018293	0.011364	0.08333	1633.83	36	chr6	43187980	.	G	A	1633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.901;SOR=0.669	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1275	5	0	1	0
chr6	43198816	43198816	C	T	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon12:c.C3011T:p.A1004V	.	429	1089	4	0	0	4	0.00183318	.	.	.	3661624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0327060457659	0.0002	0.000199681	4.179e-05	0.0001	0	0	0	6.055e-05	0	0	3.88e-05	6	154602	rs201783235	1.984e-05	1.984e-05	1.362e-05	2.613e-05	0.0003	1.392e-05	1.204e-05	6.105e-05	2.526e-05	0	4.472e-05	0	0	0	0.0003	2.068e-05	3.312e-05	0	5.251e-05	5.249e-05	5.139e-05	5.368e-05	0.0001	2.555e-05	1.828e-05	2.846e-05	1.858e-05	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0	0	0.011	0.55530	D	0.16	0.31427	T	0.128	0.27003	B	0.146	0.33945	B	0.622057	0.05761	N	1.183310	0.633746	0.30676	N	1.995	0.54099	M	-0.71	0.72889	T	-0.43	0.14390	N	0.423	0.46274	-0.9751	0.36104	T	0.146	0.47038	T	10	0.09971413	0.18113	T	0.032706	0.54460	D	0.153	0.40148	.	.	0.44480088601	0.44098	0.11198871006527387	0.11127	0.806418835641	0.66490	0.495119601488	0.38149	T	0.08672	0.37786	T	-0.213777	0.18851	T	-0.362706	0.37738	T	0.214707002043724	0.21196	T	0.861714	0.55578	D	0.10985902	0.25971	0.10022088	0.23956	0.10985902	0.25971	0.10022088	0.23956	-4.254	0.27527	T	.	.	0.096	0.18247	B	.;.	.;.	2.997949	0.40049	21.1	0.99935914577212781	0.99621	0.63053	0.31970	D	AEFDBI	0.051607	0.09133	N	-0.0186700777811039	0.41011	2.446	0.12734934216388	0.45954	2.849457	0.999477697294329	0.39898	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	1.818000	0.38650	5.356000	0.48387	0.530000	0.24713	0.954000	0.33273	0.594000	0.25685	0.924000	0.46004	0.0:0.902:0.0:0.098	9.498	0.38165	351	0.85421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1117.83	36	chr6	43198816	.	C	T	1117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.301;DP=243;ExcessHet=0;FS=7.22;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.372;SOR=0.208	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1410	5	0	1	0
chr6	43282820	43282820	G	A	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon14:c.G2080A:p.D694N	.	417	1084	21	0	0	21	0.00959342	.	.	.	2823062	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.00993938144003	0.0047	0.000998403	0.0032	0.0011	0.0014	0	0.0005	0.0048	0.0033	0.0019	0.0034993	541	154602	rs114539464	0.0044	0.0044	0.0043	0.0045	0.0104	0.0043	0.0043	0.0083	0.0075	0.0008	0.0017	0.0013	2.519e-05	0.0003	0.0104	0.0052	0.0039	0.0026	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0048	0.0008	0	0.0009	0.0006	0.0002	9.425e-05	0.0136	0.0054	0.0019	0.0012	0.004	0.65419	D	0.467	0.12351	T	0.96	0.55278	D	0.238	0.38539	B	0.282560	0.14918	N	0.593088	0.907396	0.36322	D	-0.345	0.03330	N	0.69	0.51714	T	-0.36	0.13035	N	0.156	0.16168	-1.1009	0.03984	T	0.041	0.17615	T	10	0.0049971044	0.00107	T	0.009939	0.25878	T	0.089	0.25827	.	.	0.393344232652	0.38951	0.2833841617625029	0.28251	0.374554838699	0.38919	0.539248883724	0.44339	T	0.008008	0.07373	T	-0.609653	0.00127	T	-0.635527	0.09999	T	0.0230485877662929	0.01030	T	0.758124	0.38180	T	0.13773751	0.31880	0.17717718	0.40302	0.13773751	0.31880	0.17717718	0.40301	-4.41	0.29693	T	0.2075521503494858	0.27743	0.100	0.17232	B	.	.	3.308278	0.45448	22.1	0.99833579662536942	0.91456	0.79882	0.39674	D	AEFGBHI	0.299876	0.40881	N	0.0841739464595848	0.45726	2.824289	0.154435871464867	0.47379	2.968893	0.999991451438841	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.12	4.12	0.47504	3.507000	0.53128	8.696000	0.78092	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.118	0.72094	155	0.93937	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.013587	0.000000	0.000000	0.000000	0.009146	0.007576	0.08333	1021.83	38	chr6	43282820	.	G	A	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.655;DP=261;ExcessHet=0;FS=1.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.525;SOR=0.86	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1312	5	0	1	0
chr6	43348445	43348445	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon6:c.T2951A:p.I984N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00219649	0.0009	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0068	0.0008215	127	154602	rs200879474	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0066	0.0064	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0071	0.0003	0.0003	0.0002	0.0005	0.0098	0.0003	0.0002	0.0075	0.0068	7.222e-05	0	0	0	0	0	0	0	0	0.0098	0.001	0.78490	D	0.043	0.49942	D	0.988	0.62325	D	0.837	0.59984	P	0.000525	0.43581	D	0.239316	0.603643	0.34850	D	2.3	0.65703	M	2.33	0.16492	T	-2.0	0.46146	N	0.582	0.60325	-1.0346	0.18983	T	0.063	0.26172	T	10	0.004310578	0.00087	T	.	.	.	0.129	0.35316	0.189	0.09907	0.533325340949	0.52981	0.2491202305777943	0.24826	0.477027003376	0.46822	0.525344610214	0.42379	T	0.183588	0.53598	T	-0.396855	0.02428	T	-0.339385	0.40414	T	0.123587241737642	0.14778	T	0.89791	0.64303	D	0.39195234	0.60170	0.37551263	0.62694	0.39195234	0.60171	0.37551263	0.62693	-9.636	0.71703	D	.	.	0.621	0.69730	P	.	.	4.556541	0.71761	25.7	0.99410894136725292	0.63263	0.96034	0.67234	D	AEFGBI	0.467509	0.51471	N	0.497183944019686	0.66925	5.013714	0.567742900786107	0.72642	5.841954	0.999996838982928	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.750000	0.61857	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9301:0.0:0.0699:0.0	10.827	0.45844	177	0.93145	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3529.04	37	chr6	43348445	.	A	T	3529.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.96;SOR=0.965	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1266	5	1	0	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N,TJAP1:NM_001146020:exon5:c.G223A:p.D75N,TJAP1:NM_001350564:exon5:c.G223A:p.D75N,TJAP1:NM_001350566:exon5:c.G223A:p.D75N,TJAP1:NM_001350568:exon5:c.G223A:p.D75N,TJAP1:NM_001146016:exon6:c.G223A:p.D75N,TJAP1:NM_001146019:exon6:c.G223A:p.D75N,TJAP1:NM_001350562:exon6:c.G223A:p.D75N,TJAP1:NM_001350563:exon6:c.G223A:p.D75N,TJAP1:NM_001350565:exon6:c.G223A:p.D75N,TJAP1:NM_001350567:exon6:c.G223A:p.D75N,TJAP1:NM_001350569:exon6:c.G223A:p.D75N,TJAP1:NM_080604:exon6:c.G223A:p.D75N,TJAP1:NM_001146018:exon7:c.G223A:p.D75N,TJAP1:NM_001350561:exon7:c.G223A:p.D75N,TJAP1:NM_001350570:exon7:c.G223A:p.D75N	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.020202	0.012228	0.002924	0.000000	0.000000	0.012195	0.000000	0.08333	1505.83	127	chr6	43501620	.	G	A	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.949;DP=319;ExcessHet=0;FS=3.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.125;SOR=0.465	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1422	5	0	1	0
chr6	43614439	43614439	C	A	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon9:c.C1652A:p.S551Y,POLH:NM_006502:exon11:c.C2024A:p.S675Y	Xeroderma pigmentosum, variant type, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	300268	Xeroderma_pigmentosum_variant_type|POLH-related_disorder|Xeroderma_pigmentosum|not_provided	MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342|.|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0146155645273	0.0015	0.000599042	0.0018	0	0	0	0.0079	0.0022	0.0044	0.0008	0.0015782	244	154602	rs151095678	0.0015	0.0015	0.0015	0.0016	0.0015	0.0015	0.0014	0.0014	0.0014	8.961e-05	4.472e-05	0	2.519e-05	0.0072	0	0.0015	0.0011	0.0009	0.0017	0.0017	0.0015	0.0018	0.0024	0.0015	0.0014	0.0021	0.0020	4.81e-05	0	0.0002	0	0	0.0074	0	0.0024	0.0005	0.0004	0.021	0.49117	D	0.033	0.53072	D	0.845	0.46707	P	0.259	0.39405	B	0.050657	0.02014	N	1.885850	0.85215	0.35241	D	1.245	0.31408	L	0.27	0.59176	T	-2.61	0.56144	D	0.111	0.09772	-0.8769	0.50005	T	0.141	0.46183	T	10	0.004907161	0.00105	T	0.014616	0.34856	T	0.203	0.48915	.	.	0.72232725858	0.71987	0.19483306380205648	0.19401	0.350778720902	0.36924	0.342900753021	0.16872	T	0.215691	0.57765	T	-0.503553	0.00546	T	-0.495005	0.22868	T	0.0745560942239734	0.09275	T	0.746125	0.36682	T	0.1708723	0.37688	0.14546658	0.34498	0.1708723	0.37688	0.14546658	0.34497	-8.424	0.63924	D	.	.	0.092	0.13503	B	.	.	2.032039	0.25824	16.90	0.91656504199356903	0.20945	0.81329	0.40755	D	AEFDBHCI	0.231066	0.35435	N	-0.176863252779593	0.34101	1.942324	-0.233560101000835	0.30343	1.707561	0.999999999999591	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	1.223000	0.32131	4.032000	0.41347	0.599000	0.40250	0.001000	0.13787	0.968000	0.29604	0.014000	0.10232	0.0:1.0:0.0:0.0	18.235	0.89885	274	0.89249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	809.83	33	chr6	43614439	.	C	A	809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.944;DP=268;ExcessHet=0;FS=1.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.956;SOR=0.465	GT:AD:DP:GQ:PL	0/1:57,37:94:99:820,0,1525	5	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	69.71	80	chr6	44229406	.	C	T	69.71	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.44;DP=406;ExcessHet=0;FS=75.389;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.269;SOR=6.592	GT:AD:DP:GQ:PL	0/1:61,26:87:78:78,0,967	3	0	1	2
chr6	44282504	44282504	C	T	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon4:c.G902A:p.R301Q	.	428	1091	3	0	0	3	0.001373	.	.	.	3615967	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0199469557482	.	.	6.72e-05	0	0	0	0	6.093e-05	0	0.0003	5.17e-05	8	154602	rs369127426	9.489e-05	9.508e-05	8.623e-05	0.0001	0.0002	8.176e-05	7.69e-05	0.0001	0.0001	0	0	0	0	0	0	0.0001	6.63e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.246	0.17353	T	0.252	0.23570	T	0.918	0.50838	P	0.312	0.41466	B	0.000414	0.44736	D	0.219738	1	0.19238	N	.	.	.	0.7	0.51474	T	-0.78	0.21644	N	0.361	0.40264	-1.1000	0.04091	T	0.048	0.20395	T	10	0.097952515	0.17676	T	0.019947	0.42439	T	0.072	0.21020	0.378	0.39319	0.0482279557977	0.04254	0.20456263015521084	0.20373	0.625226995545	0.56702	0.246758043766	0.03434	T	0.004911	0.04332	T	-0.327179	0.06328	T	-0.448067	0.27912	T	0.183024182915688	0.19424	T	0.747625	0.36808	T	0.098219626	0.23164	0.087284364	0.20278	0.098219626	0.23164	0.087284364	0.20278	-4.448	0.30203	T	.	.	0.102	0.17995	B	.	.	3.269683	0.44751	22.0	0.99441378138274494	0.64770	0.07937	0.13923	N	AEFBI	0.117674	0.23042	N	-0.327871712625251	0.28092	1.546718	-0.412582763744037	0.24627	1.34967	0.00464359076343471	0.10654	0.549168	0.22868	0	0.627178	0.54094	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	5.37	3.58	0.40133	0.518000	0.22554	0.820000	0.21843	0.599000	0.40250	0.010000	0.18352	0.247000	0.23892	0.991000	0.66497	0.0:0.7857:0.0:0.2143	10.030	0.41269	729	0.54495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1688.83	107	chr6	44282504	.	C	T	1688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.304;DP=314;ExcessHet=0;FS=1.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=1.14;SOR=0.888	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr6	44303399	44303399	G	A	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon15:c.C2032T:p.R678W	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	370458	not_provided|Combined_oxidative_phosphorylation_defect_type_8	MedGen:C3661900|MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.103422632904	.	.	8.329e-06	0	8.666e-05	0	0	0	0	0	6.5e-06	1	154602	rs751523537	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0002	1.048e-05	8.75e-06	9.31e-06	7.61e-06	2.987e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	0.991	0.64070	D	0.328	0.42011	B	0.001449	0.38980	N	0.285443	0.889534	0.81001	D	2.925	0.84406	M	-0.16	0.65378	T	-4.41	0.77391	D	0.368	0.40963	-0.8238	0.53695	T	0.141	0.46128	T	10	0.4005525	0.55536	T	0.103423	0.77745	D	0.258	0.56959	0.442	0.49811	0.829739961906	0.82812	0.528839713504094	0.52807	0.512931976714	0.49306	0.239345028996	0.02732	T	0.182496	0.53453	T	-0.123921	0.32484	T	-0.234252	0.51358	T	0.83131068944931	0.48631	D	0.831017	0.49766	T	0.14727288	0.33674	0.16932048	0.38958	0.14727288	0.33674	0.16932048	0.38957	-5.852	0.45025	T	0.5056118013478395	0.58013	0.094	0.14523	B	.	.	3.700177	0.52769	23.3	0.99876333802912187	0.95328	0.97989	0.78678	D	AEFBI	0.575424	0.57782	D	0.314449941974481	0.56888	3.85451	0.264611744936462	0.53486	3.517182	0.069296759099233	0.15486	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	1.96	0.25203	3.581000	0.53658	6.480000	0.55735	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0657:0.1176:0.574:0.2427	6.086	0.19194	803	0.44167	Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	517.83	39	chr6	44303399	.	G	A	517.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=193;ExcessHet=0;FS=1.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,928	5	0	1	0
chr6	44408487	44408487	C	T	exonic	CDC5L	.	nonsynonymous SNV	CDC5L:NM_001253:exon8:c.C947T:p.A316V	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0441891416331	7.7e-05	.	0.0003	0	0.0002	0	0	0.0003	0	0.0007	0.0002199	34	154602	rs373916286	0.0001	0.0001	0.0001	0.0002	0.0024	0.0001	0.0001	0.0015	0.0012	5.976e-05	0.0001	0.0020	0	0	0.0024	5.217e-05	0.0001	0.0006	8.547e-05	8.538e-05	0.0001	4.038e-05	0.0002	4.96e-05	3.965e-05	5.843e-05	4.24e-05	0	0	0	0.0006	0	0	0	0.0001	0.0010	0.0002	0.002	0.72154	D	0.007	0.69154	D	0.919	0.50927	P	0.337	0.42281	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.805	0.81760	M	0.71	0.51228	T	-3.19	0.64593	D	0.786	0.78262	-0.7148	0.59717	T	0.152	0.48049	T	10	0.36222675	0.52823	T	0.044189	0.61363	D	0.297	0.61730	.	.	0.721576156449	0.71912	0.5438709904152774	0.54313	0.637666034433	0.57498	0.739515900612	0.72902	T	0.409969	0.76485	T	-0.0743233	0.40634	T	-0.00180573	0.70219	D	0.230678230441729	0.21984	T	0.955404	0.83015	D	0.48157904	0.65996	0.4940675	0.70738	0.48157904	0.65996	0.4940675	0.70739	-9.608	0.71529	D	.	.	0.249	0.48334	B	.	.	4.578858	0.72309	25.8	0.99889390757119945	0.96359	0.99229	0.93135	D	AEFDGBI	0.873557	0.79597	D	0.728153397279819	0.81478	7.531585	0.765372819170861	0.87300	9.175004	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.905000	0.86479	7.680000	0.65243	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.296	0.98558	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1301.83	34	chr6	44408487	.	C	T	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.834;DP=263;ExcessHet=0;FS=0.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.728;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1312,0,851	5	0	1	0
chr6	46829424	46829424	C	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon10:c.C997G:p.R333G	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	.	.	0.00199681	0.0007	0	8.637e-05	0	0	1.498e-05	0	0.0054	0.0006533	101	154602	rs201186238	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0003	0	0	0	0.0005	2.698e-06	0.0004	0.0045	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0.0001	0	0	0	0	0	0	0.0058	0.001	0.78490	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	2.985	0.85602	M	4.51	0.02015	T	-6.61	0.92086	D	0.859	0.87373	-1.1447	0.01192	T	0.024	0.10329	T	10	0.04244271	0.02994	T	.	.	.	0.484	0.77335	0.694	0.83126	0.674972744706	0.67221	0.5363943928423892	0.53564	0.584147767262	0.54101	0.639661848545	0.58516	T	0.289172	0.66196	T	-0.131432	0.31265	T	0.0396594	0.72905	D	0.153814071111954	0.17403	T	0.958304	0.84304	D	0.9174281	0.92999	0.8762551	0.93301	0.9174281	0.93000	0.8762551	0.93301	-10.656	0.77738	D	.	.	0.693	0.78681	P	.;.	.;.	4.406280	0.68124	25.2	0.99906449858902402	0.97726	0.97303	0.73904	D	AEFDBHI	0.706781	0.66173	D	0.747708703243536	0.82754	7.841664	0.698254221804271	0.82247	7.719733	0.701624990667849	0.22707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.67	4.73	0.59485	2.703000	0.46778	2.184000	0.31153	0.599000	0.40250	0.984000	0.35821	0.972000	0.29809	0.990000	0.65344	0.1334:0.8665:0.0:0.0	17.353	0.87217	618	0.66225	MAM domain|MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	897.83	35	chr6	46829424	.	C	G	897.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=248;ExcessHet=0;FS=3.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.295;SOR=1.13	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	5	0	1	0
chr6	47016700	47016700	A	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon8:c.T680C:p.I227T	.	437	1076	9	0	0	9	0.00416474	.	.	.	2344511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.009212306201	0.0008	0.000399361	0.0008	0.0006	0.0005	0	0.0003	0.0012	0	0.0004	0.0007891	122	154602	rs147631696	0.0005	0.0005	0.0005	0.0006	0.0024	0.0005	0.0005	0.0015	0.0012	8.963e-05	0.0002	0.0026	0	0.0001	0.0024	0.0005	0.0006	0.0004	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0023	0	9.427e-05	0.0034	0.0009	0.0019	0	0.006	0.68238	D	0.12	0.35970	T	0.011	0.15914	B	0.014	0.16862	B	0.918331	0.08504	N	0.960190	1	0.08975	N	.	.	.	1.12	0.38718	T	-0.95	0.29727	N	0.575	0.59732	-0.9701	0.37179	T	0.053	0.22307	T	10	0.01417914	0.00299	T	0.009212	0.24201	T	0.124	0.34239	.	.	0.0846915920261	0.08053	0.3001410594602146	0.29927	0.184178322688	0.20715	0.371683657169	0.21074	T	0.005855	0.16896	T	-0.477553	0.00765	T	-0.538009	0.18493	T	0.0357376536117337	0.02934	T	0.743426	0.36288	T	0.113329835	0.26766	0.106672235	0.25668	0.113329835	0.26766	0.106672235	0.25668	-2.819	0.08360	T	.	.	0.104	0.24123	B	.;.	.;.	1.622850	0.20726	14.88	0.90673079176111115	0.19924	0.12598	0.17366	N	AEFBCI	0.361675	0.45121	N	-0.571139153170097	0.19827	1.040658	-0.60396127351175	0.19390	1.040151	0.023059671747006	0.13478	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	5.71	3.33	0.37245	3.380000	0.52180	8.110000	0.76588	0.756000	0.94297	0.045000	0.21207	0.991000	0.31484	0.015000	0.10482	0.8255:0.0:0.1745:0.0	7.243	0.25282	816	0.41767	SEA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	540.83	33	chr6	47016700	.	A	G	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.568;DP=245;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.477;SOR=0.903	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1205	5	0	1	0
chr6	47879229	47879229	T	C	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_001013732:exon3:c.A1615G:p.R539G,PTCHD4:NM_001384253:exon5:c.A1606G:p.R536G	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	.	.	0.00359425	0.0027	9.905e-05	0.0006	0	0	3.084e-05	0.0068	0.0187	0.0023156	358	154602	rs554563949	0.0010	0.0010	0.0006	0.0015	0.0153	0.0010	0.0010	0.0146	0.0144	5.979e-05	0.0002	3.83e-05	2.521e-05	0	0.0003	6.927e-05	0.0017	0.0153	0.0006	0.0006	0.0003	0.0008	0.0166	0.0005	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	5.884e-05	0	0.0166	0.28	0.15509	T	0.099	0.38891	T	0.003	0.11197	B	0.027	0.21085	B	0.000024	0.55875	D	0.113761	0.999955	0.19072	N	0	0.06538	N	-1.98	0.85247	D	-1.69	0.40274	N	0.302	0.34120	-0.9555	0.40006	T	0.175	0.51911	T	10	0.0047989488	0.00102	T	.	.	.	0.237	0.54074	0.551	0.66716	0.379020345274	0.37515	0.35319058205563153	0.35233	0.13409771517	0.15106	0.316842019558	0.12943	T	0.331446	0.70152	T	-0.355914	0.04367	T	-0.271049	0.47714	T	0.0100113445564684	0.00134	T	0.893511	0.63097	D	0.11656942	0.27494	0.15231244	0.35840	0.11656942	0.27493	0.15231244	0.35839	-4.927	0.36037	T	.	.	0.191	0.41047	B	.	.	2.026673	0.25753	16.88	0.81369127065807101	0.13651	0.78547	0.38768	D	AEFBI	0.354947	0.44685	N	-1.06099961976373	0.07373	0.342321	-0.936646649742527	0.11234	0.5710547	2.85252191466908E-4	0.06355	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.48	1.06	0.19341	2.967000	0.48908	3.552000	0.39052	-0.876000	0.02500	0.753000	0.29166	0.801000	0.26950	0.836000	0.39433	0.0:0.0:0.2247:0.7753	15.295	0.73601	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	2226.83	34	chr6	47879229	.	T	C	2226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.611;DP=354;ExcessHet=0;FS=3.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.394;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	5	0	1	0
chr6	52025252	52025252	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4558A:p.V1520M,PKHD1:NM_170724:exon32:c.G4558A:p.V1520M	Polycystic kidney and hepatic disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1567458	not_provided|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.299	0.0644818708987	0.0002	.	6.606e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs201858937	4.857e-05	4.857e-05	4.22e-05	5.5e-05	3.058e-05	3.926e-05	3.605e-05	2.201e-05	1.942e-05	0	0	0.0011	0	0	0	3.058e-05	0.0001	0	3.285e-05	3.283e-05	3.853e-05	2.69e-05	1.47e-05	1.261e-05	7.98e-06	.	.	0	0	0	0.0009	0	0	0	1.47e-05	0.0005	0	0.044	0.42783	D	0.0	0.92824	D	0.918	0.50838	P	0.554	0.49340	P	0.030683	0.25272	N	0.387947	0.95051	0.26502	N	2.3	0.65703	M	-1.27	0.79277	T	-2.3	0.51157	N	0.249	0.28146	-0.7727	0.56709	T	0.263	0.63458	T	10	0.10766226	0.20008	T	0.064482	0.69290	D	0.299	0.61955	.	.	0.592856498712	0.58963	0.50468189006787	0.50390	0.265442073576	0.29100	0.36001688242	0.19389	T	0.501298	0.82155	D	-0.178905	0.23900	T	-0.338395	0.40526	T	0.165895982389791	0.18296	T	0.728227	0.34274	T	0.082700655	0.19064	0.13507089	0.32350	0.082700655	0.19063	0.13507089	0.32349	-4.401	0.29571	T	0.4721461798847437	0.55239	0.162	0.35746	B	.;.	.;.	2.787076	0.36630	20.3	0.99551247897618389	0.71148	0.76313	0.37418	D	AEFBI	0.200567	0.32729	N	-0.0449799019014874	0.39828	2.355045	-0.0989434719033763	0.35434	2.049996	0.0249232909533647	0.13613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	2.86	0.32427	1.454000	0.34789	1.651000	0.27846	0.599000	0.40250	0.840000	0.30285	0.999000	0.35428	0.854000	0.40426	0.1474:0.7429:0.0:0.1097	8.196	0.30558	775	0.48401	IPT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	3162.04	96	chr6	52025252	.	C	T	3162.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.94;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	5	1	0	0
chr6	52273751	52273751	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366375:exon5:c.G697A:p.D233N,MCM3:NM_001270472:exon9:c.G1402A:p.D468N,MCM3:NM_001366369:exon10:c.G1540A:p.D514N,MCM3:NM_001366370:exon10:c.G1540A:p.D514N,MCM3:NM_001366371:exon10:c.G1489A:p.D497N,MCM3:NM_001366372:exon10:c.G1489A:p.D497N,MCM3:NM_001366374:exon10:c.G931A:p.D311N,MCM3:NM_002388:exon10:c.G1540A:p.D514N,MCM3:NM_001366373:exon11:c.G1021A:p.D341N	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0130031276609	0.0023	0.00199681	0.0045	0.0008	0.0011	0	0.0054	0.0070	0.0023	0.0006	0.0040944	633	154602	rs41273732	0.0040	0.0040	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0044	0.0005	0.0017	0.0013	0	0.0065	0.0026	0.0046	0.0040	0.0006	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0007	0	0.0022	0.0014	0	0.0031	0	0.0047	0.0033	0.0008	0.003	0.68238	D	0.032	0.74150	D	0.979	0.59044	D	0.948	0.68536	D	0.000000	0.84330	D	0.046859	1	0.81001	D	1.86	0.49225	L	4.28	0.34050	T	-3.83	0.74051	D	0.36	0.44474	-0.9556	0.39988	T	0.163	0.49930	T	10	0.010209978	0.00228	T	0.013003	0.32054	T	0.277	0.59375	.	.	0.719660668505	0.71719	0.4683618608115827	0.46755	0.263756687781	0.28933	0.698439121246	0.66919	T	0.182108	0.53401	T	-0.472771	0.00817	T	-0.449822	0.27716	T	0.0334107398449504	0.02539	T	0.835616	0.51077	T	0.7180104	0.79051	0.6625154	0.80220	0.7180104	0.79052	0.6625154	0.80221	-6.355	0.49157	T	.	.	0.253	0.79060	B	.;.;.;.;.	.;.;.;.;.	5.184262	0.86933	29.1	0.99905551746587362	0.97651	0.97638	0.76075	D	AEFGBCI	0.914894	0.87890	D	0.624751732856405	0.74743	6.184916	0.663728929125817	0.79637	7.124625	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.726000	0.83783	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93583	581	0.69614	MCM domain;.;.;MCM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.1667	1999.06	33	chr6	52273751	.	C	T	1999.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=293;ExcessHet=0.4139;FS=0.65;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.29;SOR=0.802	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1045,0,974	4	0	2	0
chr6	52677136	52677136	G	A	exonic	TMEM14A	.	nonsynonymous SNV	TMEM14A:NM_014051:exon2:c.G34A:p.V12M	.	.	.	.	.	.	.	.	.	.	.	2238733	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0299868119841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1441632488	7.525e-06	7.524e-06	4.084e-06	1.1e-05	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	7.194e-06	1.656e-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	0.001	0.78490	D	0.003	0.76473	D	0.989	0.62824	D	0.824	0.59271	P	0.017329	0.27751	N	0.347566	0.516196	0.31859	D	.	.	.	0.53	0.55090	T	-2.18	0.49187	N	0.601	0.61933	-0.8918	0.48775	T	0.137	0.45280	T	9	0.7447728	0.75209	D	0.029987	0.52391	D	0.243	0.54921	0.47	0.54376	0.503621591648	0.50000	0.6137690431717249	0.61308	0.263391581007	0.28895	0.547657251358	0.45527	T	0.24275	0.61154	T	-0.0179859	0.49139	T	-0.263612	0.48462	T	0.968863010406494	0.68389	D	0.910809	0.68393	D	0.25717863	0.48761	0.42845914	0.66559	0.25717863	0.48761	0.42845914	0.66559	-10.884	0.79018	D	.	.	0.189	0.40698	B	.	.	3.420655	0.47492	22.5	0.99877389397742233	0.95410	0.34217	0.25015	N	AEFBI	0.334892	0.43351	N	0.245636459226012	0.53423	3.511245	0.205991166882093	0.50179	3.212738	0.159052796218469	0.17564	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.08	2.16	0.26663	0.060000	0.14220	1.725000	0.28287	0.676000	0.76740	0.819000	0.29975	0.960000	0.29291	0.984000	0.60418	0.0683:0.1186:0.4472:0.3659	5.109	0.14134	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2464.06	45	chr6	52677136	.	G	A	2464.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.88;DP=428;ExcessHet=0.4139;FS=2.778;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=1.36;SOR=0.876	GT:AD:DP:GQ:PL	0/1:81,62:143:99:1454,0,1921	4	0	2	0
chr6	52896870	52896870	C	G	exonic	GSTA3	.	nonsynonymous SNV	GSTA3:NM_001363542:exon6:c.G455C:p.S152T,GSTA3:NM_000847:exon7:c.G605C:p.S202T	.	421	1087	14	0	0	14	0.00639854	.	.	.	735704	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0005	0.00419329	0.0036	0.0002	0.0036	0.0001	0	0.0006	0.0022	0.0208	0.0030271	468	154602	rs149910347	0.0016	0.0016	0.0010	0.0022	0.0192	0.0015	0.0015	0.0184	0.0181	2.988e-05	0.0022	0.0057	2.519e-05	0	0.0052	0.0003	0.0018	0.0192	0.0011	0.0011	0.0007	0.0015	0.0164	0.0009	0.0009	0.0135	0.0124	0.0002	0	0.0023	0.0052	0	0	0	0.0003	0.0009	0.0164	0.026	0.49117	D	0.035	0.53788	D	0.996	0.68779	D	0.821	0.59116	P	0.000000	0.84330	D	0.000000	0.721008	0.33617	D	4.045	0.97016	H	3.8	0.03781	T	-2.83	0.59710	D	0.317	0.36148	-1.0528	0.13628	T	0.035	0.15204	T	10	0.004918754	0.00105	T	.	.	.	0.191	0.46948	.	.	0.319970858106	0.31615	0.2172488376076375	0.21640	0.0374744692565	0.03975	0.483047127724	0.36475	T	0.258356	0.62950	T	-0.473515	0.00808	T	-0.438011	0.29031	T	0.118626559516602	0.14295	T	0.974503	0.90930	D	0.69049233	0.77538	0.39724603	0.64344	0.69049233	0.77540	0.39724603	0.64344	-7.608	0.58367	D	.	.	0.259	0.54198	B	.;.	.;.	3.128571	0.42264	21.5	0.99453496129180641	0.65427	0.97502	0.75165	D	AEFBI	0.632597	0.61315	D	0.645146737021222	0.76056	6.416434	0.503221332057515	0.68208	5.18825	0.0280851422141881	0.13811	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	5.859000	0.69288	6.483000	0.55742	0.599000	0.40250	1.000000	0.71638	0.821000	0.27127	0.746000	0.35646	0.0:1.0:0.0:0.0	12.793	0.56925	499	0.76092	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.022727	0.08333	571.83	33	chr6	52896870	.	C	G	571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.396;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.151;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	5	0	1	0
chr6	54354599	54354599	T	C	exonic	TINAG	.	nonsynonymous SNV	TINAG:NM_014464:exon9:c.T1213C:p.Y405H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0606732578809	.	0.000399361	7.539e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs561602659	1.714e-05	1.779e-05	1.637e-05	1.791e-05	0.0003	1.176e-05	9.94e-06	0.0002	0.0002	0	0	0	0	0	0	0	3.323e-05	0.0003	1.317e-05	1.313e-05	0	2.694e-05	0.0004	2.19e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.064	0.36509	T	0.128	0.34959	T	0.998	0.73220	D	0.876	0.62173	P	0.000025	0.55875	D	0.000000	0.825054	0.28833	N	0.67	0.16346	N	-1.77	0.83660	D	-1.74	0.41239	N	0.332	0.37301	-0.3640	0.73144	T	0.369	0.72880	T	10	0.07186422	0.10652	T	0.060673	0.68080	D	0.356	0.67691	0.36	0.36385	0.537356456974	0.53385	0.7469859268014984	0.74644	0.00922494675709	0.00836	0.602947831154	0.53320	T	0.213426	0.57474	T	-0.280701	0.10593	T	-0.319017	0.42682	T	0.372292548418045	0.27885	T	0.690631	0.30012	T	0.10017042	0.23649	0.11975008	0.28901	0.10017042	0.23649	0.11975008	0.28901	-5.801	0.44583	T	.	.	0.109	0.20896	B	.	.	2.743938	0.35944	20.1	0.99657715948312575	0.77694	0.76795	0.37693	D	AEFGBI	0.164534	0.29094	N	0.192938695035556	0.50860	3.272076	0.167293933183611	0.48066	3.027611	0.00572003649094246	0.11022	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.54	4.37	0.51830	2.741000	0.47100	5.081000	0.47267	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.1684:0.0:0.8316	7.457	0.26444	833	0.38804	Peptidase C1A, papain C-terminal|Peptidase C1A, papain C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1325.83	34	chr6	54354599	.	T	C	1325.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.039;DP=264;ExcessHet=0;FS=2.798;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=1.3;SOR=0.449	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	5	0	1	0
chr6	56060920	56060920	G	A	exonic	COL21A1	.	stopgain	COL21A1:NM_001318753:exon10:c.C517T:p.Q173X,COL21A1:NM_001318754:exon10:c.C394T:p.Q132X,COL21A1:NM_001318752:exon25:c.C2314T:p.Q772X,COL21A1:NM_030820:exon26:c.C2323T:p.Q775X,COL21A1:NM_001318751:exon27:c.C2323T:p.Q775X	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461600298	2.103e-06	2.736e-06	2.791e-06	1.409e-06	6.459e-05	5.6e-07	1.6e-07	1.069e-05	4e-06	6.459e-05	0	0	0	0	0	9.09e-07	0	0	6.576e-06	6.568e-06	0	1.347e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.429856	0.12762	N	0.691913	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.216	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273629	0.80763	D	0.34181	0.89990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	7.614632	0.96693	36	0.99385120390151849	0.62068	0.78214	0.38555	D	AEFI	0.093378	0.18895	N	0.294023494790838	0.55844	3.748624	0.0747578197003908	0.43284	2.633338	0.0191527879412196	0.13134	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.9	3.1	0.34780	2.910000	0.48464	6.374000	0.55530	-0.113000	0.14837	0.774000	0.29403	0.995000	0.32472	0.600000	0.31387	0.0732:0.0:0.7876:0.1392	9.878	0.40382	803	0.44167	.;.;.	.	.	.	.	.	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	1971.83	33	chr6	56060920	.	G	A	1971.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.457;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.891;SOR=0.656	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1982,0,1678	5	0	1	0
chr6	56494012	56494012	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon64:c.A12523G:p.K4175E,DST:NM_001374730:exon73:c.A13174G:p.K4392E,DST:NM_183380:exon74:c.A13501G:p.K4501E,DST:NM_001144770:exon75:c.A13621G:p.K4541E,DST:NM_001144769:exon77:c.A14035G:p.K4679E,DST:NM_001374729:exon78:c.A19432G:p.K6478E,DST:NM_001374722:exon83:c.A20392G:p.K6798E,DST:NM_001374734:exon83:c.A20419G:p.K6807E,DST:NM_001374736:exon83:c.A20392G:p.K6798E	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	15	1502	4	1	0	6	0.00199336	0.7613	0.464	.	954570	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.0072208139392	.	0.000399361	0.0001	0.0001	8.857e-05	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs560268832	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.964e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0005	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.715e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0002	0.03	0.55530	D	.	.	.	0.863	0.47474	P	0.53	0.48544	P	0.000017	0.62929	D	0.000000	.	.	.	.	.	.	0.71	0.51228	T	-3.66	0.71397	D	0.853	0.87157	-0.8027	0.54985	T	0.203	0.56101	T	9	0.4870381	0.60770	T	0.007221	0.19143	T	0.264	0.57741	.	.	0.663738440163	0.66091	0.35253684350758935	0.35167	0.654754854923	0.58542	0.598420202732	0.52681	T	0.067923	0.33326	T	-0.0619279	0.42606	T	-0.00672192	0.69898	D	0.386528879404068	0.28432	T	0.976802	0.93989	D	.	.	.	.	.	.	.	.	-11.223	0.80867	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.820908	0.55171	23.6	0.99073008827528086	0.51762	0.98642	0.85044	D	AEFBI	0.925971	0.90635	D	0.681193063905235	0.78401	6.864013	0.705328904161284	0.82785	7.853415	0.999999976437788	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	7.207000	0.77409	7.843000	0.70613	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.281	0.82505	160	0.93798	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	938.83	33	chr6	56494012	.	T	C	938.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=252;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.818;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	5	0	1	0
chr6	56604966	56604966	C	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G9029C:p.G3010A,DST:NM_001374722:exon40:c.G9662C:p.G3221A,DST:NM_001374734:exon40:c.G9689C:p.G3230A,DST:NM_001374736:exon40:c.G9662C:p.G3221A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	10	1504	7	1	0	9	0.0029831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00598693029503	0.0012	0.000599042	0.0016	0.0002	0.0012	0	0.0012	0.0017	0.0022	0.0032	0.0014812	229	154602	rs17674097	0.0011	0.0011	0.0011	0.0012	0.0040	0.0011	0.0011	0.0030	0.0029	5.982e-05	0.0011	0	0	0.0009	0.0040	0.0011	0.0010	0.0034	0.0011	0.0011	0.0010	0.0012	0.0030	0.0010	0.0009	0.0023	0.0020	0.0001	0.0044	0.0030	0	0	0.0005	0.0034	0.0014	0.0005	0.0023	0.047	0.51853	D	0.632	0.07150	T	0.043	0.21573	B	0.031	0.21939	B	0.466188	0.04899	N	1.346760	.	.	.	.	.	.	-0.32	0.71068	T	-1.21	0.30762	N	0.268	0.30347	-0.9959	0.31055	T	0.091	0.34874	T	8	0.0046438873	0.00097	T	0.005987	0.15638	T	0.042	0.11227	.	.	0.187035705434	0.18338	.	.	.	.	.	.	.	0.017515	0.14276	T	-0.51902	0.00446	T	-0.520418	0.20252	T	0.00173953245393932	0.00018	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	-3.239	0.12963	T	.	.	.	.	.	.;.	.;.	1.012404	0.13913	10.47	0.74517803341808286	0.10725	0.23977	0.22248	N	AEFBI	0.113929	0.22459	N	-1.11598807469329	0.06358	0.2924675	-1.1273375124459	0.07181	0.3483609	0.779969145464302	0.23823	0.744818	0.98587	0	0.487994	0.07600	2	0.670488	0.60580	0	0.76194	0.99817	0	.	.	5.42	1.53	0.22224	-0.079000	0.11321	0.518000	0.19139	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.522000	0.29520	0.146:0.4012:0.1337:0.3191	1.290	0.01934	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1613.83	35	chr6	56604966	.	C	G	1613.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.26;DP=356;ExcessHet=0;FS=0.611;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.306;SOR=0.627	GT:AD:DP:GQ:PL	0/1:94,59:153:99:1624,0,2652	5	0	1	0
chr6	56616981	56616981	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.A6486G:p.I2162M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	832090	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.259	0.0116632090588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966512494	8.933e-06	8.893e-06	8.195e-06	9.681e-06	1.173e-05	4.99e-06	3.84e-06	6.54e-06	5.04e-06	0	0	0	0	0	0	1.173e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.996	0.68779	D	0.944	0.68059	D	.	.	.	.	.	.	.	.	.	.	-0.75	0.73311	T	-0.47	0.15178	N	0.394	0.43514	-0.6368	0.63282	T	0.328	0.69614	T	7	0.35558313	0.52317	T	0.011663	0.29506	T	0.259	0.57090	0.388	0.40951	0.651532293328	0.64863	.	.	.	.	.	.	.	.	.	.	-0.00855004	0.50468	T	-0.250058	0.49812	T	0.487777709960938	0.32183	T	0.476352	0.14285	T	.	.	.	.	.	.	.	.	-3.542	0.17025	T	.	.	0.150	0.33063	B	.	.	1.530727	0.19640	14.36	0.99449277969234728	0.65172	0.44123	0.27249	N	AEFBCI	0.187305	0.31460	N	0.0313893060405965	0.43287	2.624616	-0.0609323942096347	0.37021	2.162069	0.104289083369882	0.16470	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.77	0.272	0.14899	-0.651000	0.05471	1.030000	0.23473	0.665000	0.62972	0.078000	0.22289	1.000000	0.68203	0.991000	0.66497	0.4386:0.0:0.2269:0.3345	7.153	0.24798	294	0.88270	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	952.83	35	chr6	56616981	.	T	C	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.097;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	5	0	1	0
chr6	56617066	56617066	G	A	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.C6401T:p.T2134M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1512	7	1	0	9	0.00296736	.	.	.	455679	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00651452457279	0.0012	0.000599042	0.0016	0.0002	0.0013	0	0.0012	0.0017	0.0022	0.0032	0.0014877	230	154602	rs115983672	0.0011	0.0011	0.0011	0.0012	0.0040	0.0011	0.0011	0.0030	0.0029	5.975e-05	0.0011	0	0	0.0009	0.0040	0.0011	0.0010	0.0034	0.0011	0.0011	0.0010	0.0012	0.0031	0.0010	0.0009	0.0024	0.0021	0.0001	0.0044	0.0031	0	0	0.0005	0.0034	0.0014	0.0005	0.0021	0.094	0.31383	T	0.002	0.79402	D	0.133	0.27236	B	0.021	0.19346	B	.	.	.	.	.	.	.	.	.	.	-0.31	0.68030	T	-0.49	0.15578	N	0.162	0.17002	-1.0856	0.06298	T	0.071	0.29001	T	7	0.010834843	0.00239	T	0.006515	0.17157	T	0.040	0.10527	.	.	0.358880540497	0.35496	.	.	.	.	.	.	.	.	.	.	-0.529668	0.00386	T	-0.535713	0.18720	T	0.00277867791408453	0.00029	T	0.684232	0.29249	T	.	.	.	.	.	.	.	.	-5.014	0.36992	T	.	.	0.145	0.31882	B	.	.	2.171497	0.27671	17.54	0.98430764709703222	0.41397	0.87433	0.46971	D	AEFGBCI	0.417324	0.48541	N	-0.143972402260093	0.35492	2.039303	0.00828982560125277	0.40098	2.387731	0.955297194574701	0.28180	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.77	4.81	0.61401	2.541000	0.45394	6.589000	0.56020	-0.108000	0.15293	0.996000	0.39380	1.000000	0.68203	0.697000	0.34049	0.0758:0.0:0.7876:0.1366	9.590	0.38706	296	0.88164	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.011364	0.08333	989.83	35	chr6	56617066	.	G	A	989.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.87;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.31;SOR=0.749	GT:AD:DP:GQ:PL	0/1:31,32:63:99:1000,0,717	5	0	1	0
chr6	57053800	57053800	T	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.T1220G:p.I407R,KIAA1586:NM_001286275:exon4:c.T1100G:p.I367R,KIAA1586:NM_001286276:exon4:c.T1100G:p.I367R,KIAA1586:NM_020931:exon4:c.T1301G:p.I434R	.	474	1046	2	0	0	2	0.00095511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00574384298222	0.0024	0.000199681	0.0018	0.0008	0.0003	0	0.0003	0.0031	0.0012	0.0001	0.0001921	5	26028	rs202156522	0.0022	0.0021	0.0022	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0002	0.0003	0.0003	0	0.0004	0.0019	0.0026	0.0022	4.033e-05	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0016	0.0004	0	0.0003	0.0017	0	0.0002	0	0.0020	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	0.95	0.53885	P	0.571	0.49890	P	.	.	.	.	0.938189	0.37217	D	1.59	0.40313	L	1.98	0.21865	T	-3.27	0.65512	D	0.557	0.58202	-1.0496	0.14509	T	0.018	0.07329	T	9	0.00900808	0.00204	T	0.005744	0.14892	T	0.162	0.41843	.	.	0.225215365344	0.22153	0.25390325512276285	0.25304	0.198000684834	0.22175	0.684002637863	0.64843	T	0.246186	0.61561	T	-0.378283	0.03194	T	-0.319518	0.42628	T	0.0234420556395789	0.01076	T	0.723028	0.33655	T	0.5359384	0.69168	0.63358927	0.78616	0.6210959	0.73823	0.5731603	0.75278	-9.909	0.73365	D	.	.	0.267	0.59661	B	.;.	.;.	3.495726	0.48888	22.7	0.98628936649213184	0.43879	0.71395	0.34994	D	AEBI	0.107344	0.21389	N	0.106491538475619	0.46764	2.911944	0.155753686333257	0.47448	2.974852	0.558440847750074	0.21393	0.651	0.46895	0	0.708844	0.79440	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	3.82	3.82	0.43153	1.123000	0.30922	1.140000	0.24397	0.587000	0.30956	0.545000	0.27306	0.694000	0.26193	0.998000	0.85391	0.0:0.0:0.0:1.0	9.154	0.36144	282	0.88846	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.1667	676.07	13	chr6	57053800	.	T	G	676.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.48;DP=133;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.609;SOR=1.773	GT:AD:DP:GQ:PL	0/1:14,14:28:99:386,0,343	4	0	2	0
chr6	57606426	57606426	C	T	exonic	PRIM2	.	nonsynonymous SNV	PRIM2:NM_000947:exon12:c.C1199T:p.S400L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.928e-07	1.368e-06	0	1.395e-06	2.543e-05	0	0	.	.	0	0	0	2.543e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.44702	T	0.708	0.42036	P	0.392	0.44215	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.33030	.	.	.	.	.	.	.	0.22984129	0.39922	T	.	.	.	.	.	.	.	0.583052320349	0.57977	0.39233447209689587	0.39148	.	.	0.423824578524	0.28363	T	0.020551	0.16160	T	-0.0516694	0.44194	T	-0.311996	0.43443	T	.	.	.	0.860114	0.55285	D	0.39527145	0.60403	0.5562562	0.74334	0.39527145	0.60404	0.5562562	0.74335	-7.725	0.59181	D	.	.	0.09	0.12607	B	.	.	2.568455	0.33279	19.29	0.70571058195452097	0.09339	0.89095	0.49358	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999996578383	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.292527	0.05481	0	0.266559	0.05369	1	0.802457	0.47526	5.91	5.05	0.67566	3.507000	0.53128	3.322000	0.37553	0.423000	0.20817	0.997000	0.40164	0.998000	0.33993	0.982000	0.59238	0.0:0.9321:0.0:0.0679	15.061	0.71618	718	0.55760	.	.	.	.	.	.	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	614.83	34	chr6	57606426	.	C	T	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.969;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.52;MQRankSum=-0.555;QD=16.62;ReadPosRankSum=-0.334;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	5	0	1	0
chr6	64886718	64886718	G	A	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon19:c.C2971T:p.L991F,EYS:NM_001292009:exon19:c.C2971T:p.L991F	Retinitis pigmentosa 25	1	1497	24	0	0	24	0.00795229	.	.	.	192093	Retinitis_pigmentosa_25|Optic_atrophy|Retinal_dystrophy|not_specified|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|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|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0744851416317	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	9.7e-05	15	154602	rs201819948	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0080	0.0072	0.0003	0.0003	0.0023	0	2.033e-05	0.0101	0.0003	0.0009	0.0006	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	6.573e-05	0.0035	0	0	0.0068	0.0003	0	0.0002	0.056	0.38185	T	0.097	0.39190	T	0.356	0.33761	B	0.088	0.29688	B	.	.	.	.	0.999474	0.21134	N	1.205	0.30389	L	-2.91	0.91696	D	-1.34	0.34397	N	0.336	0.42247	-0.6871	0.61043	T	0.315	0.68504	T	9	0.04381132	0.03270	T	0.074485	0.72052	D	0.167	0.42761	.	.	0.241078983079	0.23725	0.5518934580232567	0.55115	0.00979768638769	0.00893	0.272145539522	0.06423	T	0.026573	0.19638	T	-0.345646	0.05006	T	-0.377896	0.35968	T	0.00665512794752755	0.00075	T	0.458254	0.14076	T	0.061071713	0.12605	0.066396594	0.13595	0.061071713	0.12605	0.066396594	0.13595	-4.519	0.31136	T	0.19831537238597025	0.26256	0.088	0.12985	B	.;.	.;.	0.883320	0.12567	9.094	0.98771526240813712	0.45986	0.11424	0.16625	N	AEFI	0.071038	0.14126	N	-0.975959284843479	0.09119	0.4302811	-1.00077579515748	0.09768	0.4879277	1.10563263840404E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	-0.107	0.12930	-0.414000	0.07179	-0.332000	0.09882	-0.114000	0.14653	0.094000	0.22667	0.000000	0.08366	0.988000	0.63387	0.1872:0.3002:0.3592:0.1534	1.643	0.02590	795	0.45444	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001247	0.000000	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	265.83	21	chr6	64886718	.	G	A	265.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.15;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-1.005;SOR=0.525	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,657	5	0	1	0
chr6	65344041	65344041	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon9:c.A1596C:p.K532N,EYS:NM_001142800:exon10:c.A1596C:p.K532N,EYS:NM_001142801:exon10:c.A1596C:p.K532N,EYS:NM_001292009:exon10:c.A1596C:p.K532N	Retinitis pigmentosa 25	10	1490	19	3	0	25	0.00831947	.	.	.	710583	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0083	0.00259585	0.0068	0.0011	0.0019	0	0.0031	0.0109	0.0088	0.0018	0.007018	1085	154602	rs61753611	0.0097	0.0098	0.0100	0.0095	0.0115	0.0096	0.0095	0.0113	0.0113	0.0010	0.0028	0.0140	2.525e-05	0.0051	0.0053	0.0115	0.0084	0.0012	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0105	0.0102	0.0019	0.0330	0.0050	0.0139	0.0002	0.0047	0.0204	0.0112	0.0090	0.0017	0.239	0.17761	T	0.161	0.31326	T	0.246	0.31102	B	0.035	0.24832	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-1.5	0.81318	D	0.6	0.14390	N	0.243	0.27435	-1.0342	0.19109	T	0.098	0.36625	T	9	0.0044945776	0.00092	T	.	.	.	0.047	0.12962	0.449	0.50957	0.110078149338	0.10416	0.23494252369575014	0.23409	0.0100119887689	0.00916	0.215253651142	0.01054	T	0.017918	0.14537	T	-0.549341	0.00294	T	-0.55019	0.17309	T	0.00412558134519826	0.00044	T	0.456654	0.13107	T	0.044149835	0.07007	0.05097871	0.08110	0.042527467	0.06467	0.05097871	0.08110	-3.118	0.12726	T	0.153488012199202	0.18260	0.234	0.50871	B	.;.;.;.	.;.;.;.	0.098160	0.05004	1.558	0.55313910472509453	0.05316	0.02315	0.06641	N	AEFI	0.047262	0.07940	N	-1.16824113892233	0.05486	0.2502346	-1.26494320617993	0.04913	0.232905	7.59859653809289E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-3.87	0.03939	-0.006000	0.12769	-2.928000	0.03221	0.602000	0.45918	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.1407:0.2333:0.0:0.626	4.660	0.12023	889	0.27310	.;.;.;.	.	.	.	.	.	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	0.005045	0.000000	0.006793	0.000000	0.000000	0.000000	0.009202	0.007576	0.1667	745.06	33	chr6	65344041	.	T	G	745.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.277;DP=214;ExcessHet=0.4139;FS=0.853;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.729;SOR=0.813	GT:AD:DP:GQ:PL	0/1:16,19:35:99:444,0,357	4	0	2	0
chr6	72179813	72179813	C	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_014989:exon5:c.C710T:p.A237V	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00427153001029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.883	0.06802	T	0.278	0.21812	T	0.001	0.07471	B	0.002	0.06944	B	0.196545	0.16709	N	0.567650	1	0.08975	N	0.55	0.14455	N	2.5	0.14408	T	0.34	0.04306	N	0.072	0.05670	-0.9186	0.45743	T	0.006	0.01944	T	10	0.045544058	0.03638	T	0.004272	0.10341	T	0.098	0.28162	0.208	0.12497	0.275641507738	0.27180	0.14208153262139106	0.14131	0.590832157368	0.54534	0.294756650925	0.09622	T	0.090619	0.38623	T	-0.367403	0.03728	T	-0.765526	0.02918	T	0.0843945846523954	0.10539	T	0.858314	0.54891	D	0.041004363	0.05958	0.03576335	0.02890	0.041004363	0.05958	0.03576335	0.02889	-5.1	0.37908	T	.	.	0.068	0.02733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.425140	0.18423	13.73	0.99604324593518423	0.74397	0.15967	0.19167	N	AEFBI	0.120250	0.23433	N	-0.92941261692333	0.10159	0.484132	-0.916498879231875	0.11704	0.5979567	1.40056249126253E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.530356	0.10902	0	.	.	5.65	1.16	0.19936	1.284000	0.32855	0.808000	0.21724	0.599000	0.40250	0.188000	0.24163	0.001000	0.17328	0.021000	0.11733	0.1614:0.3961:0.1603:0.2822	1.234	0.01832	858	0.34001	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3000.06	40	chr6	72179813	.	C	T	3000.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.586;DP=385;ExcessHet=0.4139;FS=1.688;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.249;SOR=0.841	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1506,0,1232	4	0	2	0
chr6	73765952	73765952	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159588:exon10:c.G899A:p.G300D,CD109:NM_001159587:exon11:c.G1130A:p.G377D,CD109:NM_133493:exon11:c.G1130A:p.G377D	.	426	1064	30	2	0	34	0.0157262	.	.	.	1936492	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0055	0.00559105	0.0090	0.0012	0.0049	0	0.0212	0.0093	0.0078	0.0152	0.0084604	1308	154602	rs7741152	0.0077	0.0077	0.0075	0.0080	0.0165	0.0076	0.0076	0.0138	0.0128	0.0011	0.0059	0.0032	2.52e-05	0.0196	0.0165	0.0073	0.0080	0.0130	0.0069	0.0069	0.0063	0.0074	0.0131	0.0065	0.0064	0.0105	0.0096	0.0014	0	0.0103	0.0026	0	0.0169	0.0136	0.0083	0.0066	0.0131	0.251	0.37118	T	0.14	0.34837	T	0.99	0.63424	D	0.687	0.53665	P	0.225121	0.16047	N	0.646799	0.803527	0.29086	N	1.945	0.52268	M	1.85	0.28189	T	-3.61	0.69477	D	0.329	0.38027	-1.1034	0.03704	T	0.037	0.15770	T	10	0.003906667	0.00074	T	.	.	.	0.076	0.22200	.	.	0.494165489436	0.49052	0.45858311809435987	0.45776	0.0426313712504	0.04596	0.380707502365	0.22357	T	0.077416	0.35650	T	-0.4463	0.01187	T	-0.401532	0.33206	T	0.0257510232446633	0.01373	T	0.854015	0.55085	D	0.09098712	0.21306	0.13227315	0.31745	0.09098712	0.21306	0.13227315	0.31745	-5.307	0.40012	T	.	.	0.147	0.34602	B	.;.;.	.;.;.	2.610992	0.33913	19.48	0.94816582121608906	0.25582	0.62529	0.31809	D	AEFGBI	0.068000	0.13394	N	-0.171357638359433	0.34331	1.958243	-0.128088779677515	0.34262	1.968913	0.0351198615705181	0.14186	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	2.88	0.32617	1.785000	0.38315	5.533000	0.48851	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.763000	0.36255	0.2571:0.0:0.7429:0.0	7.785	0.28251	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.005051	0.013587	0.014620	0.000000	0.025862	0.015244	0.015152	0.1667	633.04	34	chr6	73765952	.	G	A	633.04	.	AC=2;AF=0.167;AN=12;DP=135;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.65;SOR=1.721	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,688	5	1	0	0
chr6	75134749	75134749	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.G2009A:p.R670Q,COL12A1:NM_004370:exon32:c.G5501A:p.R1834Q	Bethlem myopathy 2	427	1094	1	0	0	1	0.00045683	.	.	.	522137	Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2|not_provided	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.012993467692	0.0002	0.000199681	0.0003	0.0001	0.0013	0.0002	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs182768408	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0003	0.0011	0	0.0003	1.885e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.631e-05	0	0.0007	0	0.0002	0	0.0068	0.0002	0.0005	0	0.356	0.12592	T	0.237	0.27767	T	0.043	0.21573	B	0.007	0.12992	B	0.070429	0.21540	N	0.427942	1	0.08975	N	0.14	0.08730	N	0.63	0.53088	T	-0.33	0.12472	N	0.373	0.41459	-0.9852	0.33784	T	0.025	0.10821	T	10	0.011271119	0.00247	T	0.012993	0.32036	T	0.043	0.11576	.	.	0.187035705434	0.18338	0.4868259123386073	0.48602	0.141389581085	0.15943	0.312972575426	0.12356	T	0.00797	0.31612	T	-0.505273	0.00534	T	-0.539099	0.18385	T	0.0195343381003936	0.00657	T	0.89811	0.64401	D	0.023861703	0.01163	0.028938122	0.01178	0.023861703	0.01163	0.028938122	0.01178	-3.551	0.20969	T	0.10397440299484514	0.08080	0.079	0.08320	B	.;.;.;.;.	.;.;.;.;.	3.226967	0.43993	21.8	0.94732414246328023	0.25416	0.07461	0.13478	N	AEFBI	0.079997	0.16167	N	-0.991155232712783	0.08792	0.4135861	-0.869615287031499	0.12817	0.6615003	0.999925720922169	0.46280	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	3.18	0.35615	2.410000	0.44245	3.263000	0.37105	-0.180000	0.10397	0.339000	0.25666	0.996000	0.32793	0.969000	0.54022	0.0:0.6593:0.0:0.3407	8.900	0.34649	845	0.36510	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	789.83	34	chr6	75134749	.	C	T	789.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.204;DP=243;ExcessHet=0;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.474;SOR=0.374	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	5	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	528.25	25	chr6	80007990	.	G	C	528.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.218;DP=160;ExcessHet=0;FS=37.347;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.65;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,337:.	1	0	1	4
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	558.79	34	chr6	80007991	.	AGTTTT	A	558.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.749;DP=232;ExcessHet=0;FS=37.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.05;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:81:.:.:0,81,1215:.	5	0	1	0
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	567.68	26	chr6	80007996	.	T	TCCCCC	567.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.626;DP=160;ExcessHet=0;FS=34.037;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.81;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:5:.:.:0,5,393:.	3	0	1	2
chr6	83137607	83137607	C	G	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon21:c.C3538G:p.P1180A,DOP1A:NM_015018:exon21:c.C3565G:p.P1189A	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00422702838858	0.0025	0.000599042	0.0021	0.0010	0.0010	0	0.0002	0.0032	0	0.0007	0.0022121	342	154602	rs41271565	0.0030	0.0030	0.0031	0.0030	0.0037	0.0030	0.0029	0.0036	0.0036	0.0007	0.0009	7.656e-05	0	0.0005	0.0035	0.0037	0.0027	0.0009	0.0021	0.0021	0.0021	0.0020	0.0037	0.0019	0.0018	0.0033	0.0032	0.0008	0	0.0012	0	0	0.0004	0	0.0037	0.0024	0.0010	0.7	0.04175	T	0.686	0.05995	T	0.001	0.07471	B	0.001	0.04355	B	0.445347	0.12575	N	0.766287	0.999999	0.08975	N	0	0.06538	N	2.02	0.21119	T	-0.52	0.16187	N	0.109	0.09490	-1.0087	0.27323	T	0.010	0.03856	T	10	0.004528582	0.00093	T	0.004227	0.10216	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.14800445454405992	0.14722	0.247262330812	0.27269	0.203201383352	0.00556	T	0.01737	0.14185	T	-0.617599	0.00114	T	-0.653376	0.08720	T	0.00792398646503796	0.00093	T	0.616838	0.23625	T	0.04543361	0.07435	0.03600634	0.02962	0.04543361	0.07434	0.03600634	0.02962	-2.997	0.10149	T	.	.	0.062	0.01290	B	.;.;.	.;.;.	-0.250413	0.02843	0.398	0.10614543619274894	0.00138	0.37718	0.25825	N	AEFGBI	0.073573	0.14721	N	-0.957212187953559	0.09531	0.4515175	-0.879618821710344	0.12577	0.6477804	0.646595562477157	0.22113	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.8	4.91	0.63897	0.350000	0.19818	-0.107000	0.11873	0.549000	0.26987	0.022000	0.19841	0.000000	0.08366	0.026000	0.12556	0.3329:0.5927:0.0:0.0744	8.165	0.30380	671	0.60868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4256.06	35	chr6	83137607	.	C	G	4256.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.39;DP=474;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.38;SOR=0.689	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1779,0,1655	4	0	2	0
chr6	83922447	83922447	A	G	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon9:c.A668G:p.H223R	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0063098574594	0.0016	0.000798722	0.0013	0.0004	0.0008	0	0.0002	0.0021	0	0.0002	0.0013777	213	154602	rs141290525	0.0020	0.0021	0.0021	0.0020	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0008	0.0014	0	0.0004	0.0014	0.0025	0.0013	0.0003	0.0016	0.0016	0.0017	0.0014	0.0030	0.0014	0.0013	0.0026	0.0025	0.0004	0	0.0008	0.0014	0	0.0002	0	0.0030	0.0005	0	0.092	0.31682	T	0.629	0.07220	T	0.005	0.12996	B	0.009	0.14300	B	0.156288	0.17804	N	0.627318	0.919918	0.36647	D	2.17	0.60663	M	2.46	0.14907	T	-1.81	0.42575	N	0.292	0.33030	-1.0412	0.16951	T	0.014	0.05369	T	10	0.012358844	0.00266	T	0.00631	0.16580	T	0.038	0.09825	.	.	0.408714661073	0.40485	0.4667869915393243	0.46597	0.178612203484	0.20098	0.421492695808	0.28042	T	0.038854	0.24988	T	-0.513103	0.00482	T	-0.513178	0.20988	T	0.0169769176700854	0.00447	T	0.591441	0.21800	T	0.1002087	0.23659	0.0927459	0.21873	0.1002087	0.23658	0.0927459	0.21872	-7.142	0.55064	T	.	.	0.069	0.03162	B	.	.	2.011449	0.25557	16.81	0.92477621986771208	0.21909	0.83906	0.42997	D	AEFBI	0.173607	0.30069	N	-0.277047541581094	0.30036	1.671149	-0.117198161193884	0.34697	1.99877	0.0172647236627468	0.12931	0.706298	0.61202	0	0.708844	0.79440	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.22	4.06	0.46572	1.618000	0.36565	5.026000	0.46786	0.751000	0.87719	0.999000	0.42656	1.000000	0.68203	0.978000	0.57271	0.8232:0.0:0.1768:0.0	6.861	0.23246	499	0.76092	CS domain|CS domain|Cytochrome b5 reductase 4, p23 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	469.83	46	chr6	83922447	.	A	G	469.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.573;DP=220;ExcessHet=0;FS=2.454;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.596;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1081	5	0	1	0
chr6	84152708	84152708	T	G	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.A3238C:p.S1080R,CEP162:NM_014895:exon23:c.A3466C:p.S1156R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00728508070162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.487	0.11656	T	0.113	0.26349	B	0.037	0.23121	B	0.804541	0.06789	N	1.087340	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	-1.23	0.33598	N	0.193	0.25989	-0.9449	0.41830	T	0.014	0.05753	T	10	0.1229122	0.23325	T	0.007285	0.19307	T	0.026	0.05648	0.158	0.06178	0.0482279557977	0.04254	0.14281800754448878	0.14204	0.0226536047655	0.02288	0.247102752328	0.03469	T	0.020535	0.16154	T	-0.296381	0.09006	T	-0.663507	0.08032	T	0.0676487684249878	0.08318	T	0.737326	0.35372	T	0.09207325	0.21592	0.0910751	0.21393	0.09207325	0.21591	0.0910751	0.21393	-4.238	0.27298	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	1.226115	0.16205	12.39	0.77327836076152723	0.11830	0.21369	0.21377	N	AEFBI	0.125263	0.24169	N	-0.953952551814535	0.09604	0.4552653	-0.987017548675938	0.10076	0.5052437	1.15749270027658E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	-1.56	0.08080	0.598000	0.23774	0.678000	0.20656	0.663000	0.56723	0.216000	0.24491	0.000000	0.08366	0.025000	0.12405	0.0:0.6022:0.0:0.3978	12.033	0.52701	562	0.71143	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	980.83	34	chr6	84152708	.	T	G	980.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.228;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.986;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	5	0	1	0
chr6	84174900	84174900	T	C	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon15:c.A1624G:p.R542G,CEP162:NM_014895:exon15:c.A1852G:p.R618G	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0121738565628	0.0004	0.000599042	0.0008	0.0001	0.0011	0	0.0002	0.0009	0.0069	0.0008	0.0005692	88	154602	rs140360717	0.0004	0.0004	0.0004	0.0004	0.0132	0.0003	0.0003	0.0108	0.0099	0.0002	0.0006	0.0029	0	0.0002	0.0132	0.0002	0.0011	0.0005	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0005	0.0004	7.218e-05	0	0.0009	0.0020	0	9.452e-05	0.0068	0.0004	0.0033	0.0002	0.13	0.26740	T	0.017	0.61642	D	1.0	0.90584	D	0.964	0.71005	D	0.000001	0.84330	D	0.000000	0.521363	0.31566	N	2.19	0.61577	M	1.97	0.22067	T	-2.33	0.54702	N	0.747	0.74644	-1.0255	0.21919	T	0.082	0.32382	T	10	0.107449144	0.19958	T	0.012174	0.30502	T	0.203	0.48915	.	.	0.326616659874	0.32268	0.33754705872324386	0.33667	0.119698809295	0.13485	0.422764241695	0.28217	T	0.046626	0.27482	T	-0.137308	0.30318	T	-0.0730992	0.65404	T	0.104118660092354	0.12804	T	0.780422	0.41514	T	0.28570518	0.51590	0.3011004	0.56143	0.28570518	0.51590	0.3011004	0.56142	-5.618	0.43889	T	.	.	0.208	0.43626	B	.;.;.	.;.;.	4.324894	0.66219	24.9	0.99832337733852972	0.91370	0.89659	0.50266	D	AEFBI	0.395647	0.47242	N	0.57858598521035	0.71838	5.712337	0.543782914216686	0.70965	5.583586	0.00659323984989058	0.11259	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	2.278000	0.43085	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:0.0:0.1454:0.8546	12.791	0.56916	589	0.68969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.020202	0.009511	0.040936	0.000000	0.008621	0.003049	0.000000	0.08333	583.83	37	chr6	84174900	.	T	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=252;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=1.02;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	5	0	1	0
chr6	87015797	87015797	A	G	exonic	HTR1E	.	nonsynonymous SNV	HTR1E:NM_000865:exon2:c.A463G:p.M155V	.	424	1093	4	1	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0045810794442	.	0.000798722	0.0008	9.623e-05	8.645e-05	0	0	0.0002	0.0011	0.0056	0.0006921	107	154602	rs200173714	0.0004	0.0004	0.0002	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	0	6.729e-05	0	0	0	0.0019	9.454e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	2.412e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0048	0.202	0.20230	T	0.268	0.22494	T	0.009	0.15093	B	0.019	0.18783	B	0.000052	0.53742	U	0.070424	0.700584	0.33417	D	0.28	0.10031	N	-0.47	0.70133	T	0.48	0.03041	N	0.205	0.22742	-0.9663	0.37954	T	0.119	0.41648	T	10	0.014768332	0.00310	T	0.004581	0.11315	T	0.105	0.29889	.	.	0.774502914159	0.77242	0.590750607584926	0.59005	0.4856727274	0.47436	0.551840364933	0.46117	T	0.01096	0.09835	T	-0.405017	0.02146	T	-0.35374	0.38778	T	0.030551076709668	0.02075	T	0.889011	0.61998	D	0.22975582	0.45718	0.20875467	0.45191	0.22975582	0.45718	0.20875467	0.45190	-3.521	0.16727	T	.	.	0.086	0.10931	B	.	.	2.286124	0.29238	18.06	0.95782050085847315	0.27807	0.80492	0.40115	D	AEFDBI	0.224091	0.34836	N	-0.234001619813048	0.31746	1.78326	-0.0715122328824879	0.36572	2.130154	0.00204022641655854	0.09104	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.26	4.26	0.49832	3.600000	0.53805	6.071000	0.53257	0.540000	0.25189	0.999000	0.42656	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	13.360	0.60092	809	0.43032	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	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.08333	2157.83	33	chr6	87015797	.	A	G	2157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.086;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.52;SOR=0.67	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1438	5	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	162.32	43	chr6	87418396	.	G	C	162.32	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.201;DP=285;ExcessHet=0;FS=178.451;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=0.299;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,11:61:45:.:.:0,45,669:.	4	0	1	1
chr6	88057692	88057692	C	T	exonic	SPACA1	.	nonsynonymous SNV	SPACA1:NM_030960:exon3:c.C346T:p.R116C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0232867229561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021094748	9.578e-06	9.577e-06	8.169e-06	1.1e-05	0.0003	5.56e-06	4.35e-06	6.094e-05	2.522e-05	0	0	0	0	1.872e-05	0.0003	6.296e-06	3.312e-05	2.319e-05	1.973e-05	1.971e-05	2.571e-05	1.347e-05	6.55e-05	5.25e-06	2.46e-06	.	.	0	0	6.55e-05	0	0	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000229	0.47286	D	0.087437	0.974275	0.39091	D	2.31	0.66127	M	1.86	0.24285	T	-5.82	0.88289	D	0.706	0.70966	-1.0518	0.13899	T	0.095	0.35950	T	10	0.7157413	0.73334	D	0.023287	0.46242	T	0.166	0.42578	0.335	0.32329	0.37097340754	0.36704	0.3159512123096082	0.31508	0.53708369229	0.51022	0.416674137115	0.27380	T	0.268	0.63986	T	-0.0440527	0.45346	T	-0.204201	0.54249	T	0.990337133407593	0.80552	D	0.889011	0.61998	D	0.3996998	0.60711	0.26777232	0.52638	0.3996998	0.60712	0.26777232	0.52637	-6.319	0.48872	T	.	.	0.485	0.63914	A	.	.	4.830704	0.78774	27.0	0.99919494299497658	0.98654	0.63051	0.31969	D	AEFBI	0.243644	0.36489	N	0.489201292129308	0.66457	4.952701	0.410534165867855	0.62220	4.433872	1.80103794918412E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.58	0.56077	0.822000	0.27007	4.105000	0.41886	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.289000	0.24236	0.2198:0.6977:0.0:0.0825	8.502	0.32326	396	0.82953	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	540.83	47	chr6	88057692	.	C	T	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.528;DP=226;ExcessHet=0;FS=4.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.767;SOR=0.907	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1096	5	0	1	0
chr6	89675563	89675563	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon78:c.A12662G:p.N4221S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00659718585141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.390998	0.13255	N	0.737152	1	0.08975	N	0.175	0.09039	N	3.94	0.03408	T	-2.33	0.51646	N	0.135	0.13198	-0.9129	0.46492	T	0.002	0.00615	T	10	0.07681984	0.12049	T	0.006597	0.17415	T	0.020	0.03691	0.356	0.35734	0.236619781664	0.23270	0.19851706339961175	0.19768	0.12052743132	0.13571	0.298070251942	0.10114	T	0.005897	0.05345	T	-0.41026	0.01979	T	-0.827087	0.01315	T	0.030404167510259	0.02052	T	0.738226	0.35599	T	0.022925146	0.00991	0.03891409	0.03866	0.022925146	0.00991	0.03891409	0.03865	-1.713	0.02263	T	.	.	0.061	0.01092	B	.;.	.;.	0.522976	0.08917	5.698	0.51537924081685249	0.04581	0.11708	0.16810	N	AEFGBI	0.056834	0.10537	N	-1.36224938127224	0.03000	0.133324	-1.39695940027391	0.03284	0.1528932	0.840393185283307	0.24856	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	-5.22	0.02592	0.138000	0.15838	0.078000	0.14353	-0.703000	0.04025	0.015000	0.19116	0.006000	0.19429	0.012000	0.09680	0.116:0.464:0.2157:0.2043	4.493	0.11234	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1291.83	34	chr6	89675563	.	T	C	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=265;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.062;SOR=0.552	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr6	98834883	98834883	G	A	exonic	POU3F2	.	nonsynonymous SNV	POU3F2:NM_005604:exon1:c.G10A:p.A4T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.218431281936	.	0.000399361	0.0007	0	0	0	0	0	0	0.0050	0.0005369	83	154602	rs201781902	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	6.002e-05	2.24e-05	0	0	0	0	0	0.0004	0.0046	0.0001	0.0001	7.711e-05	0.0002	0.0041	9.744e-05	8.258e-05	0.0027	0.0023	4.812e-05	0	0	0	0	0	0	0	0	0.0041	0.197	0.20607	T	0.277	0.21880	T	0.251	0.31212	B	0.006	0.12133	B	0.000198	0.48115	U	0.084010	0.984762	0.40190	D	0.92	0.23413	L	-2.82	0.91192	D	-0.91	0.24460	N	0.158	0.16447	-0.4387	0.70774	T	0.353	0.71635	T	10	0.0061026216	0.00137	T	0.218431	0.87658	D	0.309	0.63055	0.223	0.14665	0.818975432973	0.81726	0.6090459226266717	0.60836	.	.	0.863023757935	0.91556	D	0.120744	0.44321	T	-0.312148	0.07561	T	-0.220202	0.52718	T	0.093007280839195	0.11569	T	0.934906	0.75551	D	0.15597703	0.35224	0.20688348	0.44922	0.15597703	0.35223	0.20688348	0.44921	-4.076	0.24935	T	.	.	0.105	0.19154	B	.	.	4.150006	0.62247	24.4	0.98401749665532179	0.41073	0.74263	0.36327	D	ALL	0.110938	0.21981	N	-0.303528349103253	0.29014	1.605243	-0.23307678321224	0.30360	1.708658	0.999994844098296	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.06	3.06	0.34374	2.728000	0.46990	9.276000	0.79675	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1288:0.0:0.8712:0.0	7.892	0.28845	871	0.31377	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	282.83	33	chr6	98834883	.	G	A	282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.364;DP=201;ExcessHet=0;FS=3.622;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.232;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	5	0	1	0
chr6	99400939	99400939	T	C	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.A1965G:p.I655M,PNISR:NM_001322408:exon11:c.A2019G:p.I673M,PNISR:NM_001322413:exon11:c.A2019G:p.I673M,PNISR:NM_001322414:exon11:c.A1965G:p.I655M,PNISR:NM_015491:exon11:c.A2019G:p.I673M,PNISR:NM_001322405:exon12:c.A2019G:p.I673M,PNISR:NM_001322410:exon12:c.A2019G:p.I673M,PNISR:NM_001322412:exon12:c.A2019G:p.I673M,PNISR:NM_032870:exon12:c.A2019G:p.I673M,PNISR:NM_001322406:exon13:c.A2019G:p.I673M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00089583667361	.	.	8.623e-06	0	0	0	0	0	0	6.103e-05	6.5e-06	1	154602	rs745756973	2.806e-06	4.106e-06	1.401e-06	4.217e-06	2.342e-05	6.6e-07	4.4e-07	3.89e-06	1.46e-06	0	0	0	0	0	0	1.853e-06	0	2.342e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.222	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.024485	0.26253	N	0.406210	0.943383	0.26723	N	0.345	0.11182	N	.	.	.	0.15	0.05310	N	0.174	0.19190	-1.0761	0.08124	T	0.026	0.11264	T	9	0.06817421	0.09605	T	8.96E-4	0.00822	T	0.067	0.19503	0.202	0.11659	0.128874641272	0.12493	0.020055680148224803	0.01958	0.683117949677	0.60146	0.423679202795	0.28343	T	0.005302	0.04751	T	-0.274855	0.11221	T	-0.531956	0.19092	T	0.598149597644806	0.36327	D	0.716728	0.32905	T	0.08117546	0.18637	0.06394933	0.12744	0.08117546	0.18637	0.06394933	0.12743	-4.944	0.36226	T	.	.	0.069	0.03197	B	.;.;.	.;.;.	2.983759	0.39806	21.0	0.89416897640252058	0.18778	0.91832	0.54359	D	AEFBI	0.387719	0.46759	N	-0.206825806377217	0.32852	1.857437	0.0402837961785656	0.41604	2.502335	0.199872384628294	0.18109	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.207000	0.31938	6.048000	0.53069	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0712:0.0:0.9288	10.637	0.44765	560	0.71333	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2676.06	33	chr6	99400939	.	T	C	2676.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.359;DP=355;ExcessHet=0.4139;FS=1.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.161;SOR=0.824	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1205,0,1529	4	0	2	0
chr6	99408128	99408128	C	T	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322408:exon6:c.G817A:p.D273N,PNISR:NM_001322413:exon6:c.G817A:p.D273N,PNISR:NM_001322415:exon6:c.G817A:p.D273N,PNISR:NM_015491:exon6:c.G817A:p.D273N,PNISR:NM_001322405:exon7:c.G817A:p.D273N,PNISR:NM_001322410:exon7:c.G817A:p.D273N,PNISR:NM_001322412:exon7:c.G817A:p.D273N,PNISR:NM_001322414:exon7:c.G817A:p.D273N,PNISR:NM_001322416:exon7:c.G817A:p.D273N,PNISR:NM_032870:exon7:c.G817A:p.D273N,PNISR:NM_001322406:exon8:c.G817A:p.D273N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00853897201673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.38	0.15988	T	0.062	0.23277	B	0.032	0.22131	B	0.002625	0.36208	N	0.350964	0.860538	0.35380	D	0.345	0.11182	N	0.95	0.43279	T	-1.52	0.36980	N	0.169	0.18649	-1.0994	0.04164	T	0.038	0.16290	T	10	0.089983374	0.15635	T	0.008539	0.22581	T	0.119	0.33137	0.076	0.00544	0.134007934775	0.12933	0.29186678848707365	0.29099	0.605192365814	0.55423	0.523288309574	0.42090	T	0.006826	0.06256	T	-0.319439	0.06943	T	-0.696629	0.06012	T	0.422993396354969	0.29801	T	0.931007	0.74365	D	0.08693965	0.20227	0.09955106	0.23774	0.08693965	0.20226	0.09955106	0.23773	-5.101	0.37918	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.534556	0.49613	22.8	0.99730863417291438	0.82761	0.96635	0.70135	D	AEFBI	0.438421	0.49782	N	-0.0683125236144049	0.38789	2.277232	0.160199806132591	0.47683	2.995027	0.999999905229237	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	2.249000	0.42821	7.719000	0.67224	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.1416:0.8584:0.0:0.0	15.105	0.71982	538	0.73119	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	242.83	45	chr6	99408128	.	C	T	242.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.838;DP=248;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.958;SOR=0.28	GT:AD:DP:GQ:PL	0/1:25,12:37:99:253,0,526	5	0	1	0
chr6	105124621	105124621	T	C	exonic	BVES	.	nonsynonymous SNV	BVES:NM_001199563:exon5:c.A574G:p.N192D,BVES:NM_007073:exon5:c.A574G:p.N192D,BVES:NM_147147:exon5:c.A574G:p.N192D	.	433	1088	1	0	0	1	0.000459348	.	.	.	735311	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2X|not_provided	MONDO:MONDO:0014782,MedGen:C5568138,OMIM:616812,Orphanet:476084|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0144632673405	0.0004	.	0.0007	9.656e-05	0.0047	0	0	0.0003	0.0022	0.0002	0.0005563	86	154602	rs145098126	0.0002	0.0002	0.0003	0.0002	0.0022	0.0002	0.0002	0.0019	0.0017	0	0.0022	3.828e-05	0	9.366e-05	0.0021	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	9.746e-05	8.26e-05	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0	0.0002	0	0	0.228	0.18434	T	0.28	0.21678	T	0.238	0.30817	B	0.079	0.28749	B	0.000000	0.84330	D	0.084158	0.998586	0.45122	D	1.67	0.42885	L	1.55	0.29866	T	-0.99	0.26200	N	0.682	0.76203	-1.0698	0.09458	T	0.026	0.11087	T	10	0.019834667	0.00448	T	0.014463	0.34591	T	0.088	0.25558	.	.	0.249502417897	0.24576	0.5969015640672728	0.59621	0.772935468842	0.64867	0.848067164421	0.89322	D	0.077263	0.35612	T	-0.429735	0.01488	T	-0.396845	0.33751	T	0.0268169566673437	0.01518	T	0.888511	0.61827	D	0.24707338	0.47682	0.22634983	0.47609	0.24774644	0.47755	0.2104409	0.45429	-7.253	0.55861	T	0.3130306903783572	0.41097	0.413	0.60286	A	.;.;.	.;.;.	3.978163	0.58465	24.0	0.9943939254768015	0.64670	0.96606	0.69985	D	AEFBI	0.732660	0.67935	D	0.0918928181438657	0.46086	2.85443	0.285510563929457	0.54693	3.633485	0.998944924732894	0.38034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.86	5.86	0.93936	6.214000	0.72143	7.744000	0.68046	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.072:0.0:0.928	10.563	0.44348	830	0.39242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1437.83	105	chr6	105124621	.	T	C	1437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.693;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1130	5	0	1	0
chr6	106519303	106519303	C	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.C871G:p.R291G,CRYBG1:NM_001371242:exon4:c.C2095G:p.R699G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0287369737943	.	0.000399361	0.0004	0	0	0	0	3.002e-05	0	0.0026	0.0003105	48	154602	rs558701608	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0007	1.799e-06	0.0004	0.0024	5.255e-05	5.25e-05	2.57e-05	8.061e-05	0.0012	2.556e-05	1.83e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0009	0.0012	0.006	0.61437	D	0.093	0.39799	T	0.983	0.60381	D	0.76	0.56425	P	0.060695	0.22229	N	0.232228	1	0.08975	N	.	.	.	-0.73	0.73100	T	-1.86	0.43524	N	0.778	0.77507	-0.5542	0.66626	T	0.291	0.66259	T	10	0.019755095	0.00445	T	0.028737	0.51367	D	0.278	0.59497	0.248	0.18447	0.821884243264	0.82020	0.2077915796899606	0.20695	0.515464313229	0.49457	0.356641471386	0.18895	T	0.050341	0.28566	T	-0.199312	0.20904	T	-0.0643124	0.66029	T	0.110824388270236	0.13508	T	0.767123	0.39533	T	0.13626035	0.31593	0.1022942	0.24512	0.13626035	0.31593	0.1022942	0.24511	-3.361	0.14537	T	.	.	0.274	0.50754	B	.;.	.;.	2.585702	0.33535	19.37	0.99696412280448465	0.80316	0.64504	0.32428	D	AEFDGBCI	0.264595	0.38191	N	0.34693955430204	0.58579	4.03088	0.278205534858612	0.54271	3.592429	0.99999999904061	0.74766	0.651	0.46895	0	0.52208	0.09955	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.73	5.73	0.89730	2.676000	0.46550	4.085000	0.41766	0.599000	0.40250	0.974000	0.34632	0.999000	0.35428	0.676000	0.33425	0.0:0.8515:0.0:0.1485	10.438	0.43634	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1053.83	34	chr6	106519303	.	C	G	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.49;DP=266;ExcessHet=0;FS=1.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.645;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1094:.	5	0	1	0
chr6	106587707	106587707	C	G	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_001318746:exon7:c.G662C:p.G221A,RTN4IP1:NM_032730:exon7:c.G962C:p.G321A	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	432	1078	10	2	0	14	0.00645161	.	.	YES	859454	Retinal_dystrophy|not_provided|Optic_atrophy	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|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0111272992217	7.7e-05	0.000199681	0.0007	0	0.0002	0	0	0.0002	0.0011	0.0043	0.0005757	89	154602	rs145695118	0.0004	0.0004	0.0002	0.0006	0.0059	0.0004	0.0003	0.0045	0.0043	0.0001	6.709e-05	0	0	0	0.0059	6.926e-05	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.216e-05	0	0.0001	0	0	0	0	0.0001	0	0.0027	0.56	0.06381	T	0.794	0.04142	T	0.585	0.38912	P	0.179	0.35808	B	0.000001	0.84330	D	0.095627	0.999991	0.81001	D	0.14	0.08730	N	1.06	0.39781	T	-0.27	0.11366	N	0.294	0.33250	-1.0738	0.08598	T	0.039	0.16935	T	10	0.008723468	0.00198	T	0.011127	0.28436	T	0.188	0.46444	.	.	0.377097596864	0.37317	0.796562215481821	0.79609	0.452195566295	0.44952	0.530304789543	0.43078	T	0.017298	0.14140	T	-0.505285	0.00534	T	-0.497767	0.22580	T	0.0457334771042511	0.04735	T	0.883212	0.60517	D	0.4897794	0.66490	0.36920756	0.62195	0.4897794	0.66490	0.36920756	0.62195	-3.888	0.22122	T	0.153122664218272	0.18190	0.081	0.08465	B	.	.	3.085182	0.41523	21.4	0.76432185195278002	0.11466	0.93025	0.57137	D	AEFDBI	0.487827	0.52641	N	0.114390587134181	0.47135	2.943376	0.287825068648412	0.54826	3.646716	0.99999995555624	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	4.787000	0.62125	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.860	0.99763	859	0.33891	Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.015337	0.003788	0.08333	2649.83	35	chr6	106587707	.	C	G	2649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.05;SOR=0.734	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	5	0	1	0
chr6	107633860	107633860	A	T	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1016T:p.N339I	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0133169445375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.127	0.35082	T	0.804	0.45171	P	0.32	0.41729	B	0.000055	0.53742	D	0.124916	0.964347	0.38401	D	1.1	0.28011	L	1.43	0.32958	T	-1.09	0.28290	N	0.631	0.64478	-1.0983	0.04303	T	0.029	0.12365	T	10	0.37333962	0.53644	T	0.013317	0.32631	T	0.085	0.24743	0.209	0.12639	0.19670166235	0.19296	0.6296427080320632	0.62898	.	.	0.503532767296	0.39319	T	0.085161	0.37440	T	-0.0185324	0.49063	T	-0.264397	0.48385	T	0.679616332054138	0.39770	D	0.836816	0.50885	T	0.36522967	0.58230	0.2473276	0.50261	0.36522967	0.58231	0.2473276	0.50260	-5.532	0.42166	T	.	.	0.109	0.20780	B	.	.	3.809384	0.54942	23.5	0.98915901469548262	0.48454	0.88006	0.47750	D	AEFDBI	0.340014	0.43697	N	0.216608339160643	0.52004	3.377451	0.323543234418872	0.56927	3.85686	0.999998521215564	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.600526	0.37237	0	.	.	5.7	4.47	0.53770	3.852000	0.55642	9.015000	0.78558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8608:0.1392:0.0:0.0	12.506	0.55325	733	0.53988	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1964.83	187	chr6	107633860	.	A	T	1964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=375;ExcessHet=0;FS=5.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.461;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr6	108912478	108912478	A	T	exonic	ARMC2	.	nonsynonymous SNV	ARMC2:NM_001286609:exon9:c.A775T:p.I259L,ARMC2:NM_032131:exon10:c.A1270T:p.I424L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0049788688869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238407662	1.368e-06	1.368e-06	2.723e-06	0	4.473e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.473e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.323128	0.14237	N	0.730123	1	0.08975	N	-0.755	0.01709	N	0.94	0.43672	T	0.17	0.05125	N	0.085	0.09631	-0.9611	0.38974	T	0.009	0.03403	T	10	0.027595788	0.00903	T	0.004979	0.12566	T	0.021	0.04004	0.37	0.38013	0.0884992946249	0.08302	0.12113947983993541	0.12040	0.126505603577	0.14259	0.313809752464	0.12482	T	0.015431	0.12947	T	-0.457232	0.01023	T	-0.718712	0.04859	T	0.0221823257951889	0.00930	T	0.518948	0.16858	T	0.04276034	0.06543	0.040126063	0.04266	0.04276034	0.06543	0.040126063	0.04266	-3.653	0.18627	T	.	.	0.063	0.02765	B	.;.	.;.	0.154422	0.05459	1.929	0.63160350910069829	0.07150	0.03132	0.08084	N	AEI	0.042877	0.06708	N	-1.52914311048747	0.01660	0.07264051	-1.52108191180291	0.02182	0.099983	0.126194696614747	0.16994	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.88	-7.07	0.01409	-0.592000	0.05841	0.428000	0.18294	-0.050000	0.17177	0.001000	0.13787	0.002000	0.18203	0.882000	0.42233	0.1441:0.3818:0.3397:0.1344	4.106	0.09508	680	0.59965	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1284.83	34	chr6	108912478	.	A	T	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.823;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.572;SOR=0.688	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1295,0,927	5	0	1	0
chr6	110357998	110357998	G	C	exonic	METTL24	.	nonsynonymous SNV	METTL24:NM_001123364:exon1:c.C275G:p.P92R	.	450	1066	6	0	0	6	0.00280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0305144355037	.	0.000599042	0	0	0	0	0	0	0	0	0.0002689	7	26028	rs555527864	0.0008	0.0006	0.0008	0.0008	0.0017	0.0008	0.0007	0.0013	0.0011	0.0001	0.0003	0	0	5.794e-05	0.0011	0.0008	0.0008	0.0017	0.0004	0.0004	0.0005	0.0004	0.0015	0.0004	0.0003	0.0007	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0.0015	0.1	0.30515	T	0.205	0.27145	T	0.372	0.34134	B	0.154	0.34351	B	0.518797	0.11765	N	0.715503	0.950133	0.26514	N	0.805	0.20218	L	0.94	0.43672	T	-0.51	0.15986	N	0.109	0.09490	-1.0247	0.22181	T	0.037	0.15899	T	10	0.018948019	0.00417	T	0.030514	0.52811	D	0.043	0.11576	.	.	0.186928172975	0.18263	0.29992390401776264	0.29905	0.237689050953	0.26313	0.824627280235	0.85739	D	0.004463	0.03867	T	-0.499892	0.00572	T	-0.606406	0.12278	T	0.17248797416687	0.18748	T	0.381662	0.09243	T	0.050009925	0.08968	0.08205092	0.18695	0.050009925	0.08968	0.08205092	0.18694	-3.776	0.20446	T	.	.	0.065	0.02038	B	.	.	1.641128	0.20944	14.98	0.9536945482840864	0.26779	0.57480	0.30388	D	AEFDBHCI	0.067538	0.13282	N	-0.631812094607372	0.17994	0.9306531	-0.651026033125123	0.18190	0.9706715	0.998704153026539	0.37498	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.61	0.753	0.17552	-0.498000	0.06502	0.992000	0.23199	-0.320000	0.05874	0.167000	0.23894	0.927000	0.28453	0.909000	0.44452	0.2266:0.0:0.5758:0.1976	3.452	0.07070	775	0.48401	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	48.86	21	chr6	110357998	.	G	C	48.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.022;DP=103;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=0.992;SOR=0.818	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,327	5	0	1	0
chr6	111087886	111087886	A	G	exonic	SLC16A10	.	nonsynonymous SNV	SLC16A10:NM_018593:exon1:c.A134G:p.K45R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.124440767903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.997253	0.22732	N	2.19	0.61577	M	0.62	0.53302	T	-0.61	0.18042	N	0.062	0.03392	-1.0716	0.09065	T	0.031	0.13199	T	9	0.11129576	0.20835	T	0.124441	0.80580	D	0.057	0.16321	0.281	0.23642	0.409533910539	0.40566	0.17886217543840707	0.17805	0.384759530948	0.39774	0.912168562412	0.97671	D	0.008934	0.08170	T	-0.302037	0.08469	T	-0.671631	0.07505	T	0.122155121579375	0.14638	T	0.574243	0.20591	T	0.054091558	0.10330	0.063850656	0.12709	0.054091558	0.10329	0.063850656	0.12709	-4.25	0.27470	T	.	.	0.088	0.12655	B	.;.	.;.	2.849338	0.37614	20.5	0.99233578614770834	0.56310	0.35308	0.25271	N	AEFDBHCI	0.104587	0.20923	N	-0.522674443064283	0.21347	1.132281	-0.386494090232371	0.25399	1.396538	0.999695172150277	0.41870	0.56387	0.32371	0	0.56911	0.20461	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.36	1.97	0.25278	1.756000	0.38018	3.508000	0.38821	0.617000	0.49538	0.957000	0.33433	1.000000	0.68203	0.104000	0.18471	0.6897:0.1467:0.1637:0.0	5.478	0.16000	583	0.69484	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	287.84	24	chr6	111087886	.	A	G	287.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.091;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-2.256;SOR=0.392	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,590	5	0	1	0
chr6	112081199	112081199	C	A	exonic	TUBE1	.	nonsynonymous SNV	TUBE1:NM_016262:exon5:c.G219T:p.L73F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.0655411015563	.	0.000199681	8.272e-06	0	8.669e-05	0	0	0	0	0	1.29e-05	2	154602	rs200730464	8.44e-06	9.581e-06	7.018e-06	9.869e-06	4.575e-05	4.5e-06	3.56e-06	7.58e-06	2.84e-06	0	4.575e-05	0	0	0	0	8.32e-06	1.698e-05	0	1.315e-05	1.313e-05	1.286e-05	1.345e-05	6.545e-05	2.18e-06	8.2e-07	.	.	2.407e-05	0	6.545e-05	0	0	0	0	0	0	0	0.014	0.53172	D	0.011	0.64786	D	0.992	0.64738	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.805	0.47535	L	-0.69	0.72678	T	-3.11	0.63669	D	0.805	0.80083	-0.1663	0.78517	T	0.384	0.74024	T	10	0.75291926	0.75769	D	0.065541	0.69610	D	0.626	0.85563	0.717	0.85230	0.848825281127	0.84737	0.6555770499981919	0.65493	0.333532222954	0.35392	0.796778321266	0.81472	T	0.377916	0.74100	T	0.247446	0.78362	D	0.117663	0.78080	D	0.986359417438507	0.77094	D	0.966503	0.87759	D	0.48315352	0.66091	0.38047245	0.63079	0.48315352	0.66092	0.38047245	0.63079	-11.941	0.84562	D	.	.	0.575	0.67844	P	.	.	4.081138	0.60712	24.3	0.99901736954200093	0.97350	0.93368	0.58030	D	AEFBI	0.689974	0.65046	D	0.521043842082281	0.68337	5.203106	0.509132070493989	0.68602	5.242896	0.999404118107163	0.39524	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.82	4.96	0.65153	1.993000	0.40367	1.754000	0.28498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9315:0.0:0.0685	14.919	0.70471	696	0.58299	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	385.83	32	chr6	112081199	.	C	A	385.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.049;DP=217;ExcessHet=0;FS=4.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=1.05;SOR=0.25	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006471	0.000000	0.013699	0.006250	0.000000	0.000000	0.010417	0.004808	0.08333	1942.83	78	chr6	116253540	.	G	T	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=422;ExcessHet=0;FS=3.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.323;SOR=0.431	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	5	0	1	0
chr6	117365098	117365098	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon20:c.G3080A:p.G1027D,ROS1:NM_001378891:exon21:c.G3068A:p.G1023D,ROS1:NM_001378902:exon21:c.G3065A:p.G1022D	.	426	1084	11	1	0	13	0.00596057	.	.	.	735382	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.247	0.0385318204558	0.0005	0.000599042	0.0008	9.619e-05	0.0010	0	0	0.0005	0	0.0027	0.0006727	104	154602	rs149513638	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0004	0.0026	0.0022	0.0003	0.0012	0.0013	0	3.745e-05	0.0038	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.222e-05	0	0.0009	0.0014	0	0	0.0102	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000279	0.46590	D	0.093959	0.999281	0.46548	D	1.78	0.46185	L	0.19	0.60236	T	-3.27	0.65512	D	0.88	0.87808	-0.6809	0.61331	T	0.188	0.53901	T	10	0.069080085	0.09862	T	0.038532	0.58281	D	0.247	0.55478	.	.	0.489104616352	0.48544	0.8251077521477099	0.82468	0.222514327128	0.24783	0.653309941292	0.60456	T	0.423871	0.77448	T	-0.125213	0.32274	T	0.0436862	0.73169	D	0.0805995687842369	0.10064	T	0.847115	0.52772	T	0.41673973	0.61874	0.46177614	0.68747	0.41673973	0.61875	0.46177614	0.68747	-12.77	0.88393	D	0.7500997215269388	0.83218	0.869	0.82265	P	.;.	.;.	4.719167	0.75895	26.4	0.99821781379981667	0.90414	0.90454	0.51643	D	AEFI	0.574312	0.57715	D	0.570977430348343	0.71367	5.640287	0.615642790575072	0.76075	6.424778	0.0287700612747789	0.13850	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	3.765000	0.54984	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8472:0.1528:0.0	15.006	0.71168	665	0.61472	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.005051	0.012228	0.005848	0.000000	0.000000	0.003067	0.007576	0.08333	978.83	33	chr6	117365098	.	C	T	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=241;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.763;SOR=0.992	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	5	0	1	0
chr6	117387836	117387836	G	A	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon13:c.C1958T:p.S653F,ROS1:NM_001378891:exon14:c.C1943T:p.S648F,ROS1:NM_001378902:exon14:c.C1943T:p.S648F	.	423	1080	19	0	0	19	0.0087196	.	.	.	721687	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.114952651211	0.0047	0.00219649	0.0042	0.0009	0.0021	0	0.0054	0.0058	0.0044	0.0033	0.0042432	656	154602	rs34203286	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0053	0.0053	0.0008	0.0015	0.0001	0	0.0078	0.0057	0.0054	0.0030	0.0034	0.0035	0.0035	0.0037	0.0033	0.0057	0.0032	0.0031	0.0052	0.0050	0.0006	0	0.0014	0	0.0006	0.0067	0	0.0057	0.0024	0.0040	0.001	0.78490	D	0.003	0.76473	D	0.994	0.66517	D	0.928	0.66279	D	0.002413	0.36612	N	0.195249	0.999895	0.50595	D	2.32	0.66415	M	-2.0	0.85393	D	-3.41	0.68651	D	0.816	0.81162	0.289	0.87388	D	0.613	0.86292	D	10	0.02112943	0.00500	T	0.114953	0.79398	D	0.422	0.73078	.	.	0.644821044561	0.64188	0.8021300788229225	0.80167	0.213380235429	0.23852	0.53136920929	0.43228	T	0.426035	0.77595	T	0.0293118	0.55631	T	0.278723	0.87057	D	0.0213073729332243	0.00832	T	0.870113	0.57479	D	0.3534043	0.57330	0.42678654	0.66445	0.34055412	0.56323	0.44890276	0.67919	-9.397	0.70216	D	0.7435229259330862	0.82561	0.420	0.62849	A	.;.	.;.	4.790111	0.77721	26.8	0.99816200084519258	0.89973	0.87385	0.46908	D	AEFBCI	0.720315	0.67092	D	0.659882239046753	0.77011	6.593096	0.64781511141272	0.78446	6.878302	0.896343261165881	0.25976	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	4.32	0.50899	5.808000	0.68834	9.481000	0.80883	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8436:0.1564	13.330	0.59918	699	0.57969	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	1481.83	103	chr6	117387836	.	G	A	1481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.312;DP=286;ExcessHet=0;FS=1.589;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.548;SOR=0.865	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	5	0	1	0
chr6	117907857	117907857	C	T	exonic	SLC35F1	.	nonsynonymous SNV	SLC35F1:NM_001029858:exon1:c.C131T:p.S44F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.416107114719	.	.	6.995e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs774467377	1.38e-05	1.573e-05	7.213e-06	2.047e-05	0.0002	8.83e-06	7.11e-06	0.0002	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.145	0.33000	T	0.214	0.30086	B	0.064	0.27215	B	0.067442	0.21740	N	0.351756	0.850927	0.35221	D	0.55	0.14455	N	.	.	.	-0.13	0.08971	N	0.205	0.22742	-1.0395	0.17465	T	0.056	0.23753	T	9	0.11365241	0.21357	T	0.416107	0.93698	D	0.047	0.12962	0.356	0.35734	0.170165803431	0.16609	0.4312148671647393	0.43038	0.659462829164	0.58806	0.865808427334	0.91963	D	0.013054	0.11362	T	-0.352766	0.04555	T	-0.454357	0.27215	T	0.17807227497661	0.19113	T	0.559044	0.19511	T	0.20769082	0.42982	0.13349572	0.32010	0.20769082	0.42982	0.13349572	0.32010	-6.113	0.47215	T	.	.	0.137	0.29806	B	.	.	3.005596	0.40175	21.1	0.99237131013976865	0.56405	0.41372	0.26642	N	AEFDBCIJ	0.113333	0.22367	N	-0.106835704123332	0.37094	2.153271	0.0430182497649191	0.41737	2.512406	0.999996348478783	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.41	4.41	0.52588	3.920000	0.56158	7.217000	0.57836	0.520000	0.23804	0.768000	0.29334	1.000000	0.68203	0.991000	0.66497	0.0:0.8311:0.1689:0.0	12.494	0.55258	473	0.77910	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	51	chr6	117907857	.	C	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.614;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.1;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:96:0,96,1440	5	0	1	0
chr6	118314152	118314152	C	A	exonic	SLC35F1	.	nonsynonymous SNV	SLC35F1:NM_001029858:exon8:c.C1127A:p.P376H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2338942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.00778263692364	0.0003	0.000199681	0.0006	9.61e-05	0.0010	0	0	0.0009	0.0011	0.0002	0.0005175	80	154602	rs141802559	0.0006	0.0006	0.0005	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0001	0.0009	0.0018	0	1.872e-05	0.0005	0.0006	0.0006	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0007	0.0020	0.0002	0	0.0034	0.0007	0.0019	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.905	0.49920	P	0.656	0.52685	P	0.000487	0.43931	D	0.195714	0.995537	0.42735	D	0.69	0.16971	N	.	.	.	-1.09	0.28290	N	0.41	0.46274	-0.8915	0.48802	T	0.147	0.47273	T	9	0.030665606	0.01195	T	0.007783	0.20642	T	0.142	0.37995	.	.	0.377274123778	0.37341	0.5196943832880454	0.51892	1.35157809382	0.84090	0.626753628254	0.56684	T	0.017094	0.14006	T	-0.321793	0.06752	T	-0.309124	0.43753	T	0.156244307756424	0.17590	T	0.808019	0.45805	T	0.22786006	0.45494	0.20672989	0.44899	0.22786006	0.45494	0.20672989	0.44898	-5.103	0.37939	T	.	.	0.133	0.28863	B	.;.	.;.	4.473027	0.69718	25.4	0.99461728822432471	0.65840	0.91049	0.52760	D	AEFI	0.440960	0.49931	N	0.353708503955724	0.58934	4.069038	0.395376440442431	0.61278	4.325854	0.999876443930036	0.44625	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	4.426000	0.59629	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:1.0:0.0:0.0	19.533	0.95230	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1115.83	34	chr6	118314152	.	C	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.032;DP=297;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.984;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1330	5	0	1	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	59.83	83	chr6	121447059	.	C	T	59.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.447;DP=318;ExcessHet=0;FS=22.498;MLEAC=1;MLEAF=0.083;MQ=57.02;MQRankSum=-0.774;QD=0.72;ReadPosRankSum=0;SOR=4.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1200:.	5	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	60.7	86	chr6	121447061	.	A	G	60.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.904;DP=415;ExcessHet=0;FS=22.498;MLEAC=1;MLEAF=0.1;MQ=57.02;MQRankSum=-0.774;QD=0.73;ReadPosRankSum=-0.305;SOR=4.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:90,0:90:81:.:.:0,81,2320:.	4	0	1	1
chr6	121447063	121447063	C	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C216G:p.I72M	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.722767548319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	2.532e-05	4.093e-06	2.755e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.705e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.001142	0.40056	N	0.240936	1	0.81001	D	3.31	0.90591	M	-5.85	0.99402	D	-2.75	0.58407	D	0.797	0.79310	1.056	0.98248	D	0.985	0.99554	D	10	0.9695214	0.96513	D	0.722768	0.97760	D	0.854	0.95507	0.824	0.93592	0.976463472848	0.97621	0.9546582355619724	0.95450	1.38342801897	0.84833	0.786057114601	0.79844	T	0.965674	0.99588	D	0.397641	0.89779	D	0.333407	0.89651	D	0.986483871936798	0.77190	D	0.908009	0.67517	D	0.740348	0.80312	0.6526063	0.79669	0.740348	0.80313	0.6526063	0.79670	-9.012	0.67775	D	0.9259814856590484	0.96879	0.690	0.72528	P	.;.;.;.;.	.;.;.;.;.	3.844646	0.55656	23.6	0.99761649806460251	0.85091	0.92478	0.55805	D	AEFBCI	0.650822	0.62479	D	0.716717483120291	0.80726	7.359028	0.661243353982356	0.79450	7.085109	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	1.401000	0.34198	4.077000	0.41709	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	62.83	81	chr6	121447063	.	C	G	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.721;DP=365;ExcessHet=0;FS=22.621;MLEAC=1;MLEAF=0.083;MQ=57.02;MQRankSum=-0.743;QD=0.77;ReadPosRankSum=-0.198;SOR=4.403	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:39:.:.:0,39,2054:.	5	0	1	0
chr6	123255885	123255885	G	A	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_006073:exon36:c.C1888T:p.H630Y	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	705	816	1	0	0	1	0.00061237	.	.	.	1835407	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00817966026239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232183760	0	3.429e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.132	0.34477	T	0.981	0.59675	D	0.932	0.66722	D	0.112208	0.19367	U	0.319694	1	0.08975	N	0.695	0.17993	N	2.25	0.17761	T	-0.21	0.10308	N	0.251	0.28381	-1.0728	0.08808	T	0.021	0.09056	T	10	0.16253504	0.30458	T	0.00818	0.21674	T	0.076	0.22200	0.18	0.08751	0.184867976434	0.18130	0.03670711926401643	0.03617	.	.	0.49461466074	0.38079	T	0.087526	0.37962	T	-0.251116	0.13962	T	-0.598487	0.12939	T	0.510891616344452	0.33030	D	0.454955	0.12997	T	0.06300634	0.13221	0.07904067	0.17760	0.06300634	0.13221	0.07904067	0.17759	-5.968	0.46011	T	0.5628100957228303	0.63045	0.098	0.16275	B	.	.	0.860018	0.12326	8.864	0.69641629740347788	0.09038	0.04015	0.09445	N	AEFI	0.040582	0.06057	N	-0.371087619648353	0.26504	1.447016	-0.578153888538055	0.20064	1.079277	1.56945852857772E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.87	0.24559	0.679000	0.24971	3.528000	0.38937	0.676000	0.76740	0.043000	0.21118	0.628000	0.25851	0.041000	0.14368	0.1594:0.0:0.8406:0.0	5.335	0.15257	899	0.25060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	105.92	8	chr6	123255885	.	G	A	105.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.366;SOR=1.022	GT:AD:DP:GQ:PL	0/1:2,5:7:61:116,0,61	5	0	1	0
chr6	125889450	125889450	G	A	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199621:exon8:c.G1051A:p.A351T,NCOA7:NM_001122842:exon9:c.G1363A:p.A455T,NCOA7:NM_181782:exon9:c.G1396A:p.A466T,NCOA7:NM_001199619:exon10:c.G1396A:p.A466T,NCOA7:NM_001199620:exon11:c.G1396A:p.A466T	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00286975955899	0.0002	0.000199681	0.0003	0.0002	8.673e-05	0	0	0.0004	0.0011	0.0004	0.0003234	50	154602	rs149505195	0.0003	0.0003	0.0003	0.0003	0.0054	0.0003	0.0003	0.0039	0.0034	0.0003	0.0003	0	0	7.49e-05	0.0054	0.0003	0.0004	0.0004	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0001	0	0	0	0.0170	0.0003	0.0009	0.0010	0.292	0.14894	T	0.547	0.09522	T	0.003	0.11197	B	0.002	0.06944	B	0.050560	0.23060	N	0.455677	1	0.08975	N	1.2	0.30300	L	2.73	0.11839	T	-0.18	0.12847	N	0.03	0.00825	-0.9398	0.42648	T	0.011	0.04134	T	10	0.015536219	0.00326	T	0.00287	0.06044	T	0.008	0.00669	.	.	0.082315109003	0.07666	0.2051399256909472	0.20430	0.0859450684059	0.09713	0.246005982161	0.03359	T	0.008346	0.07671	T	-0.514585	0.00473	T	-0.636393	0.09935	T	0.00362349092029035	0.00038	T	0.69713	0.30670	T	0.016662547	0.00213	0.035369337	0.02775	0.016662547	0.00213	0.035369337	0.02775	-3.131	0.13063	T	.	.	0.068	0.15251	B	.;.;.	.;.;.	-0.194846	0.03116	0.497	0.81707823359704745	0.13820	0.05683	0.11601	N	ALL	0.046064	0.07608	N	-1.23178805035654	0.04545	0.2053654	-1.20442411756332	0.05838	0.2793248	0.999999999709965	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.691665	0.62940	0	0.825845	0.99933	0	.	.	5.28	1.47	0.21832	0.574000	0.23416	0.771000	0.21396	-0.113000	0.14837	0.005000	0.17040	0.000000	0.08366	0.040000	0.14268	0.216:0.0:0.536:0.248	5.205	0.14610	797	0.45241	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	689.83	34	chr6	125889450	.	G	A	689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.052;DP=256;ExcessHet=0;FS=1.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.004;SOR=0.477	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	233.7	34	chr6	125927739	.	C	T	233.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.266;DP=440;ExcessHet=0;FS=142.432;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=1.3;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1216:.	4	0	1	1
chr6	128089726	128089726	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon7:c.G1042A:p.E348K,PTPRK:NM_001135648:exon8:c.G1429A:p.E477K,PTPRK:NM_001291981:exon8:c.G1429A:p.E477K,PTPRK:NM_001291982:exon8:c.G1429A:p.E477K,PTPRK:NM_001291984:exon8:c.G1429A:p.E477K,PTPRK:NM_002844:exon8:c.G1429A:p.E477K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0550317864603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.65419	D	0.003	0.79402	D	0.785	0.90584	P	0.311	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.24	0.63355	M	0.54	0.54911	T	-3.21	0.64826	D	0.836	0.83885	-0.5533	0.66661	T	0.297	0.66801	T	10	0.6400481	0.69004	D	0.055032	0.66082	D	0.293	0.61272	0.39	0.41279	0.426936546926	0.42313	0.7329004032241517	0.73235	1.38852244081	0.84936	0.799007177353	0.81811	T	0.083194	0.59330	T	0.138088	0.68142	D	-0.0394224	0.67740	D	0.959181997050465	0.65467	D	.	.	.	0.49871716	0.67020	0.41079798	0.65330	0.49871716	0.67021	0.41079798	0.65330	-11.355	0.81700	D	.	.	0.628	0.75213	P	.;.;.;.;.;.	.;.;.;.;.;.	5.028470	0.83620	28.1	0.99934555696117278	0.99535	0.98957	0.89158	D	AEFBI	0.922185	0.89678	D	0.640970733744058	0.75784	6.367818	0.69677697030496	0.82131	7.692377	0.999999999084309	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.871000	0.85545	7.689000	0.65692	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.894	0.96941	694	0.58444	.;.;.;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	.	.	.	.	.	.	.	.	0.08333	995.83	39	chr6	128089726	.	C	T	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=239;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=1.1;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1169	5	0	1	0
chr6	130441129	130441129	G	C	exonic	TMEM200A	.	nonsynonymous SNV	TMEM200A:NM_001258276:exon2:c.G707C:p.G236A,TMEM200A:NM_001258278:exon2:c.G707C:p.G236A,TMEM200A:NM_052913:exon2:c.G707C:p.G236A,TMEM200A:NM_001258277:exon3:c.G707C:p.G236A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00208033359097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.07821	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.01387	B	0.025453	0.26086	N	0.461257	1	0.08975	N	0	0.06538	N	.	.	.	-0.17	0.09627	N	0.045	0.02088	-0.9829	0.34328	T	0.008	0.02801	T	9	0.018843532	0.00414	T	0.00208	0.03828	T	0.078	0.22779	0.194	0.10571	0.043077524339	0.03247	0.13983549067145995	0.13906	0.153597724265	0.17329	0.345865666866	0.17312	T	0.022495	0.17335	T	-0.315655	0.07260	T	-0.691193	0.06321	T	0.0436226419368104	0.04351	T	0.186181	0.01938	T	0.023328025	0.01063	0.032750897	0.02059	0.023328025	0.01063	0.032750897	0.02058	-3.339	0.14245	T	.	.	0.071	0.03887	B	.;.;.;.	.;.;.;.	-0.282855	0.02694	0.350	0.42268041960398978	0.03104	0.16880	0.19591	N	AEFBI	0.248339	0.36876	N	-1.48081078376005	0.01985	0.08720208	-1.45815572290279	0.02697	0.1245321	0.428678185329924	0.20352	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.69	-3.55	0.04343	0.044000	0.13876	0.583000	0.19728	-0.708000	0.03965	0.020000	0.19661	0.004000	0.18990	0.576000	0.30797	0.5575:0.0989:0.2431:0.1004	5.061	0.13896	776	0.48302	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2106.83	177	chr6	130441129	.	G	C	2106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.104;DP=362;ExcessHet=0;FS=7.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.533;SOR=0.358	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1465	5	0	1	0
chr6	131950887	131950887	G	C	exonic	CCN2	.	nonsynonymous SNV	CCN2:NM_001901:exon2:c.C172G:p.R58G	.	1	1484	35	2	0	39	0.0129697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	.	0.00179712	0.0058	0	0	0	.	0.0114	0	0.0043	0.0008279	128	154602	rs111779788	0.0029	0.0028	0.0029	0.0030	0.0098	0.0028	0.0028	0.0074	0.0066	0.0004	0.0025	0.0079	0	0.0042	0.0098	0.0027	0.0042	0.0043	0.0023	0.0023	0.0022	0.0025	0.0037	0.0021	0.0020	0.0024	0.0023	0.0005	0	0.0027	0.0063	0.0004	0.0050	0.0034	0.0028	0.0024	0.0037	0.033	0.44358	D	0.058	0.46182	T	0.948	0.53620	P	0.804	0.58350	P	0.000055	0.53742	D	0.113091	0.612338	0.30850	N	2.945	0.84822	M	0.3	0.58755	T	-3.43	0.67359	D	0.543	0.57006	-0.7450	0.58195	T	0.196	0.55056	T	10	0.013961047	0.00294	T	.	.	.	0.323	0.64522	.	.	0.796444336488	0.79454	0.4768576801871693	0.47605	1.47171924055	0.86544	0.900508642197	0.96497	D	0.337636	0.70700	T	-0.260269	0.12869	T	-0.146779	0.59528	T	0.0537744793132564	0.06151	T	0.946505	0.79528	D	0.7260425	0.79500	0.6255168	0.78171	0.7260425	0.79502	0.6255168	0.78172	-11.85	0.84113	D	.	.	0.228	0.45990	B	.	.	4.691501	0.75173	26.3	0.99747779445746043	0.84002	0.57040	0.30273	D	ALL	0.599166	0.59229	D	0.170819427394724	0.49802	3.176582	0.0928453673664277	0.44187	2.705418	0.999999897586289	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.1	3.05	0.34272	0.429000	0.21131	6.921000	0.56929	0.586000	0.30580	0.215000	0.24480	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.6052:0.3948	13.400	0.60323	435	0.80441	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007437	0.000000	0.003030	0.015924	0.000000	0.000000	0.019380	0.004310	0.1667	492.06	37	chr6	131950887	.	G	C	492.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=182;ExcessHet=0.4139;FS=4.073;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.61;SOR=1.333	GT:AD:DP:GQ:PL	0/1:20,7:27:99:112,0,505	4	0	2	0
chr6	135036652	135036652	C	T	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145207:exon5:c.G1805A:p.S602N	.	449	1060	12	1	0	14	0.00656045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0057	0.00199681	0.0042	0.0005	0.0098	0	0.0025	0.0072	0.0124	0.0021	0.0017917	277	154602	rs186634007	0.0096	0.0092	0.0099	0.0094	0.0117	0.0095	0.0094	0.0116	0.0115	0.0016	0.0021	0.0009	0	0.0026	0.0035	0.0117	0.0059	0.0023	0.0059	0.0058	0.0063	0.0053	0.0106	0.0055	0.0054	0.0099	0.0097	0.0018	0	0.0026	0.0006	0.0002	0.0025	0.0102	0.0106	0.0057	0.0023	0.0	0.91255	D	0.056	0.46632	T	0.112	0.26290	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.91	0.24460	N	0.126	0.11912	-0.9498	0.41006	T	0.076	0.30553	T	7	0.0064092875	0.00145	T	.	.	.	0.057	0.16321	.	.	0.204265027416	0.20035	.	.	.	.	.	.	.	.	.	.	-0.506359	0.00527	T	-0.487802	0.23621	T	0.060909503382093	0.07311	T	0.532847	0.17735	T	.	.	.	.	.	.	.	.	-3.916	0.22542	T	.	.	0.204	0.42891	B	.	.	2.926705	0.38873	20.8	0.98600711565450283	0.43506	0.88902	0.49059	D	AEFGBI	0.218526	0.34352	N	0.0444625448030208	0.43889	2.673064	0.19057530219018	0.49330	3.137428	0.86630103919657	0.25325	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.32	4.39	0.52211	1.658000	0.36992	2.128000	0.30762	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1408:0.649:0.1361:0.074	5.943	0.18438	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001253	0.000000	0.000000	0.000000	0.000000	0.045455	0.011364	0.000000	0.08333	794.83	33	chr6	135036652	.	C	T	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.342;DP=237;ExcessHet=0;FS=4.883;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.986;QD=12.23;ReadPosRankSum=-0.926;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1193	5	0	1	0
chr6	135457653	135457653	C	T	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon7:c.G992A:p.S331N,AHI1:NM_001134832:exon8:c.G992A:p.S331N,AHI1:NM_017651:exon8:c.G992A:p.S331N,AHI1:NM_001134831:exon9:c.G992A:p.S331N,AHI1:NM_001350503:exon9:c.G992A:p.S331N,AHI1:NM_001350504:exon9:c.G992A:p.S331N	Joubert syndrome-3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1526785	Joubert_syndrome	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.029067978339	.	0.000199681	0.0001	0	0	0	0	1.498e-05	0	0.0009	0.00011	17	154602	rs567183382	8.62e-05	8.619e-05	4.356e-05	0.0001	0.0012	7.354e-05	6.904e-05	0.0010	0.0009	2.987e-05	0	3.827e-05	0	0	0	1.259e-05	0.0001	0.0012	3.941e-05	3.937e-05	1.285e-05	6.716e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.254	0.19157	T	0.406	0.14725	T	0.998	0.73220	D	0.852	0.64260	P	0.122681	0.18947	N	0.576691	0.958795	0.26211	N	1.1	0.28011	L	0.36	0.58755	T	-0.72	0.20358	N	0.168	0.19055	-0.8236	0.53708	T	0.212	0.57214	T	10	0.052326232	0.05250	T	0.029068	0.51642	D	0.143	0.38195	0.406	0.43902	0.720338154515	0.71787	0.12602069186062734	0.12528	0.0414141563803	0.04446	0.284454315901	0.08122	T	0.136035	0.46818	T	-0.474101	0.00802	T	-0.510137	0.21301	T	0.273757249116898	0.23907	T	0.815518	0.47040	T	0.080307	0.18394	0.081791796	0.18616	0.080307	0.18394	0.081791796	0.18616	-4.469	0.30481	T	0.1405227430925817	0.15731	0.102	0.27313	B	.;.;.;.	.;.;.;.	2.787953	0.36639	20.3	0.99541377747222515	0.70523	0.87427	0.46963	D	AEFBI	0.309271	0.41562	N	0.387549221822109	0.60746	4.267081	0.351692542836365	0.58608	4.032505	0.999947204458916	0.47345	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.5	4.55	0.55429	2.008000	0.40513	3.363000	0.37875	0.545000	0.25583	0.818000	0.29961	1.000000	0.68203	0.970000	0.54328	0.3298:0.6702:0.0:0.0	10.534	0.44183	698	0.58074	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	904.83	80	chr6	135457653	.	C	T	904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=264;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=2.03;SOR=0.501	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1301	5	0	1	0
chr6	136359992	136359992	C	T	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198617:exon12:c.G1561A:p.A521T,MAP7:NM_001198611:exon13:c.G1798A:p.A600T,MAP7:NM_001198616:exon13:c.G1732A:p.A578T,MAP7:NM_001198608:exon14:c.G1909A:p.A637T,MAP7:NM_001198609:exon14:c.G1933A:p.A645T,MAP7:NM_001198615:exon14:c.G1798A:p.A600T,MAP7:NM_001198618:exon14:c.G1405A:p.A469T,MAP7:NM_001198619:exon14:c.G1405A:p.A469T,MAP7:NM_003980:exon14:c.G1843A:p.A615T,MAP7:NM_001198614:exon15:c.G1909A:p.A637T	.	434	1085	3	0	0	3	0.00138058	.	.	.	2820718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0011	0.00279553	0.0027	0.0003	0.0010	0	0.0051	0.0017	0.0022	0.0098	0.0024515	379	154602	rs147645484	0.0021	0.0021	0.0018	0.0023	0.0085	0.0020	0.0020	0.0080	0.0078	0.0002	0.0008	0	2.521e-05	0.0064	0.0016	0.0016	0.0016	0.0085	0.0016	0.0016	0.0014	0.0017	0.0089	0.0014	0.0014	0.0068	0.0061	0.0002	0	0.0009	0	0	0.0041	0	0.0019	0.0009	0.0089	0.322	0.15354	T	0.217	0.32568	T	0.649	0.40609	P	0.343	0.42509	B	0.064442	0.21952	N	0.386209	0.840263	0.28640	N	1.33	0.33268	L	1.85	0.24472	T	-1.05	0.27463	N	0.234	0.34767	-1.0652	0.10502	T	0.025	0.10643	T	10	0.004345447	0.00088	T	.	.	.	0.044	0.11924	.	.	0.295226631146	0.29124	0.07572818544890253	0.07508	0.147406636612	0.16629	0.335423022509	0.15751	T	0.010179	0.23553	T	-0.598542	0.00149	T	-0.626001	0.10720	T	0.0275844252984346	0.01628	T	0.841716	0.53646	T	0.03594689	0.04328	0.060091928	0.11388	0.03594689	0.04328	0.060091928	0.11388	-4.829	0.35123	T	.	.	0.074	0.06525	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.764221	0.22436	15.62	0.99394659929214446	0.62519	0.72193	0.35345	D	AEFDGBHCI	0.180231	0.30753	N	-0.162119913488043	0.34721	1.985282	-0.0327585746203623	0.38245	2.250485	0.97877865082994	0.29957	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.86	4.05	0.46415	0.179000	0.16653	0.099000	0.14623	0.545000	0.25583	0.706000	0.28683	0.831000	0.27213	0.940000	0.48062	0.0:0.8574:0.0:0.1426	12.073	0.52925	808	0.43318	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	729.83	33	chr6	136359992	.	C	T	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.472;DP=242;ExcessHet=0;FS=4.721;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=2.24;SOR=0.515	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	5	0	1	0
chr6	136366384	136366384	C	T	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198617:exon7:c.G650A:p.R217Q,MAP7:NM_001198611:exon8:c.G887A:p.R296Q,MAP7:NM_001198616:exon8:c.G821A:p.R274Q,MAP7:NM_001198608:exon9:c.G998A:p.R333Q,MAP7:NM_001198609:exon9:c.G1022A:p.R341Q,MAP7:NM_001198615:exon9:c.G887A:p.R296Q,MAP7:NM_001198618:exon9:c.G494A:p.R165Q,MAP7:NM_001198619:exon9:c.G494A:p.R165Q,MAP7:NM_003980:exon9:c.G932A:p.R311Q,MAP7:NM_001198614:exon10:c.G998A:p.R333Q	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0135859483041	0.0002	.	0.0002	0.0004	0	0.0013	0	5.995e-05	0	0	0.0001229	19	154602	rs148369326	3.968e-05	3.967e-05	4.084e-05	3.85e-05	0.0008	3.113e-05	2.846e-05	0.0005	0.0005	0.0002	2.236e-05	0	0.0008	0	0	1.259e-05	8.279e-05	1.159e-05	0.0001	0.0001	8.993e-05	0.0002	0.0010	8.668e-05	7.259e-05	0.0004	0.0002	0.0003	0	6.546e-05	0	0.0010	0	0	0	0.0005	0	0.042	0.43708	D	0.069	0.50809	T	0.774	0.44062	P	0.116	0.31939	B	0.007281	0.31484	N	0.146452	0.973711	0.25531	N	1.92	0.51302	L	2.5	0.14408	T	-1.54	0.37375	N	0.129	0.18239	-0.9863	0.33518	T	0.009	0.03271	T	10	0.024883032	0.00701	T	0.013586	0.33109	T	0.016	0.02506	.	.	0.262679179196	0.25893	0.3096038671047802	0.30873	0.224687600524	0.25003	0.294834375381	0.09633	T	0.032289	0.47068	T	-0.544735	0.00314	T	-0.568481	0.15589	T	0.0534433715293256	0.06095	T	0.887611	0.61581	D	0.07732857	0.17545	0.06262254	0.12281	0.07732857	0.17544	0.06262254	0.12280	-4.321	0.38594	T	.	.	0.083	0.12371	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.695775	0.35200	19.83	0.99841591766667714	0.92229	0.55020	0.29759	D	AEFDBI	0.101050	0.20305	N	-0.0394154043712978	0.40076	2.373928	0.0710756429829178	0.43101	2.618953	0.999966983483701	0.48965	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.54	4.68	0.58319	1.675000	0.37171	1.077000	0.23857	0.599000	0.40250	0.990000	0.36992	0.579000	0.25612	0.970000	0.54328	0.0:0.816:0.0:0.184	8.423	0.31876	854	0.34840	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	893.83	33	chr6	136366384	.	C	T	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=235;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.299;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1159	5	0	1	0
chr6	138868138	138868138	A	G	exonic	ECT2L	.	nonsynonymous SNV	ECT2L:NM_001195037:exon12:c.A1510G:p.I504V,ECT2L:NM_001077706:exon13:c.A1510G:p.I504V	.	436	1083	3	0	0	3	0.00138313	.	.	.	137727	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.049	.	.	0.0071885	0.0034	0.0001	0.0002	0.0001	0	1.499e-05	0.0022	0.0245	0.0030271	468	154602	rs201270230	0.0014	0.0014	0.0008	0.0020	0.0221	0.0014	0.0013	0.0213	0.0210	0	2.239e-05	0	2.52e-05	0	0.0021	3.329e-05	0.0017	0.0221	0.0009	0.0009	0.0005	0.0013	0.0263	0.0007	0.0007	0.0226	0.0212	0	0	6.532e-05	0	0.0002	0	0	2.94e-05	0.0005	0.0263	0.518	0.07307	T	0.485	0.11725	T	0.001	0.07471	B	0.001	0.04355	B	0.450261	0.12516	U	0.594563	1	0.08975	N	1.485	0.37223	L	0.2	0.60111	T	-0.26	0.11185	N	0.152	0.15609	-1.0225	0.22899	T	0.102	0.37618	T	10	0.0031599104	0.00053	T	.	.	.	0.049	0.13647	0.286	0.24440	0.199424873507	0.19547	0.11954962768218094	0.11881	0.073059882837	0.08188	0.381543070078	0.22476	T	0.003241	0.02647	T	-0.636404	0.00087	T	-0.668673	0.07693	T	0.0125056030265524	0.00207	T	0.466353	0.13696	T	0.025491936	0.01493	0.026908303	0.00808	0.025491936	0.01493	0.026908303	0.00808	-3.678	0.18994	T	.	.	0.090	0.12655	B	.;.;.	.;.;.	0.378351	0.07505	4.148	0.24379084119541247	0.01075	0.02747	0.07428	N	AEFBI	0.040144	0.05930	N	-0.994580911778222	0.08719	0.4098915	-0.959224902642287	0.10710	0.5411385	0.483726189192506	0.20807	0.497415	0.19182	0	0.491513	0.07743	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	3.41	0.38145	0.283000	0.18605	0.732000	0.21094	-0.067000	0.16409	0.038000	0.20882	0.001000	0.17328	0.005000	0.06747	0.6851:0.0:0.3149:0.0	4.868	0.12978	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1055.83	40	chr6	138868138	.	A	G	1055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=293;ExcessHet=0;FS=1.633;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-2.063;SOR=0.924	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1308	5	0	1	0
chr6	138911287	138911287	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon14:c.C1783T:p.P595S,REPS1:NM_001128617:exon16:c.C1975T:p.P659S,REPS1:NM_001286611:exon17:c.C2056T:p.P686S,REPS1:NM_031922:exon17:c.C2053T:p.P685S	.	428	1086	7	1	0	9	0.00412655	.	.	.	626156	REPS1-related_disorder|Neurodegeneration_with_brain_iron_accumulation_7|not_provided	.|MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	0.0117638402873	0.0015	0.00119808	0.0013	0.0003	0.0009	0	0	0.0021	0.0022	0.0003	0.0013066	202	154602	rs144226246	0.0016	0.0016	0.0016	0.0017	0.0040	0.0016	0.0015	0.0027	0.0023	0.0003	0.0017	0.0113	0	0.0001	0.0040	0.0016	0.0023	0.0005	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0012	0.0141	0	0	0.0068	0.0014	0.0005	0.0008	0.107	0.29554	T	0.344	0.18732	T	0.03	0.38028	B	0.013	0.38015	B	0.001765	0.38052	N	0.268813	0.979802	0.81001	D	-0.205	0.04094	N	1.56	0.30669	T	-1.39	0.42191	N	0.479	0.56833	-1.0361	0.18513	T	0.018	0.07470	T	10	0.00639382	0.00145	T	0.011764	0.29704	T	0.178	0.44724	.	.	0.20808081866	0.20439	0.08486331132841375	0.08420	0.254390484647	0.28010	0.470694065094	0.34776	T	0.214761	0.57643	T	-0.357278	0.04286	T	-0.304996	0.44194	T	0.0186419217957266	0.00578	T	0.884611	0.60805	D	0.07976423	0.18239	0.07931246	0.17843	0.08661737	0.20138	0.07794004	0.17409	-2.957	0.10052	T	0.1393074874601666	0.15491	0.067	0.04806	B	.;.;.;.;.	.;.;.;.;.	3.364269	0.46465	22.3	0.98620663450897494	0.43771	0.98695	0.85684	D	AEFBI	0.676370	0.64143	D	-0.167214858411733	0.34505	1.970286	0.0765075659218673	0.43369	2.640152	0.999177448897513	0.38651	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	4.382000	0.59360	8.694000	0.78086	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.418	0.87399	919	0.19497	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007560	0.000000	0.010870	0.000000	0.050000	0.008621	0.009202	0.007576	0.08333	509.83	45	chr6	138911287	.	G	A	509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=224;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.206;SOR=1.003	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	5	0	1	0
chr6	139135442	139135442	G	A	exonic	HECA	.	nonsynonymous SNV	HECA:NM_016217:exon1:c.G46A:p.A16T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.227013455088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.641e-06	4.652e-05	3.238e-06	0	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.07570	T	0.421	0.14075	T	0.013	0.16609	B	0.0	0.01387	B	0.034033	0.24822	U	0.148584	0.948603	0.26564	N	-0.345	0.03330	N	.	.	.	0.11	0.05706	N	0.141	0.14054	-0.9853	0.33760	T	0.020	0.08313	T	9	0.04212889	0.02932	T	0.227013	0.88071	D	0.079	0.23065	0.082	0.00727	0.215109475489	0.21095	0.08861890653414378	0.08794	0.742544029749	0.63343	0.923138439655	0.98553	D	0.060637	0.31441	T	-0.0618885	0.42612	T	-0.326675	0.41839	T	0.429150760173798	0.30029	T	0.537046	0.18049	T	0.10066679	0.23771	0.09718788	0.23124	0.10066679	0.23771	0.09718788	0.23123	-4.503	0.30928	T	.	.	0.075	0.05360	B	.	.	2.445462	0.31484	18.75	0.98408789919814099	0.41148	0.21163	0.21304	N	AEFDBHCIJ	0.062203	0.11943	N	-0.549607583882103	0.20496	1.080879	-0.43080854072497	0.24098	1.317752	0.999989013333796	0.51787	0.242642	0.04205	2	0.56911	0.20461	1	0.391439	0.06340	0	0.249971	0.05119	0	.	.	1.98	1.98	0.25351	3.872000	0.55798	10.052000	0.83193	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	8.915	0.34738	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	.	.	.	.	.	.	.	.	0.08333	31.85	21	chr6	139135442	.	G	A	31.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.189;DP=62;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=-1.15;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,190	5	0	1	0
chr6	142402658	142402658	A	G	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon12:c.A1699G:p.T567A,ADGRG6:NM_001032395:exon12:c.A1699G:p.T567A,ADGRG6:NM_020455:exon13:c.A1783G:p.T595A,ADGRG6:NM_198569:exon13:c.A1783G:p.T595A	Lethal congenital contracture syndrome 9, Autosomal recessive	443	1078	1	0	0	1	0.000463607	.	.	.	795759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0227045308331	0.0005	0.000599042	0.0008	0	0	0	0.0022	0.0008	0	0.0015	0.0004851	75	154602	rs193295605	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0006	5.998e-05	2.262e-05	0	0	0.0024	0.0003	0.0006	0.0008	0.0009	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	7.215e-05	0	6.542e-05	0	0	0.0016	0	0.0007	0.0005	0.0006	0.04	0.49613	D	.	.	.	0.989	0.66517	D	0.849	0.66279	P	0.000003	0.62929	D	0.000000	0.995461	0.42703	D	.	.	.	1.48	0.32958	T	-1.44	0.35399	N	0.592	0.70439	-0.9335	0.43620	T	0.132	0.44366	T	10	0.03447181	0.01657	T	0.022705	0.45623	T	0.197	0.47942	.	.	0.418095516054	0.41424	0.7861913320537105	0.78571	0.553608707389	0.52127	0.506709575653	0.39763	T	0.279838	0.65253	T	-0.196394	0.21325	T	-0.105323	0.62982	T	0.144040261009384	0.16618	T	0.865913	0.56597	D	0.30111846	0.53005	0.13283588	0.31867	0.17585097	0.38466	0.16342546	0.37910	-6.519	0.51750	T	.	.	0.351	0.65230	A	.;.;.;.	.;.;.;.	3.723043	0.53211	23.3	0.99617491972223815	0.75233	0.98369	0.82077	D	AEBI	0.655618	0.62789	D	0.597343306507141	0.73009	5.896482	0.545196684102909	0.71063	5.598237	0.999998923248225	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.547309	0.15389	0	0.735409	0.98432	0	.	.	5.66	5.66	0.87293	6.137000	0.71462	9.248000	0.79469	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	15.906	0.79213	709	0.56835	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.83	33	chr6	142402658	.	A	G	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.185;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	5	0	1	0
chr6	149836280	149836280	T	C	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon5:c.A1057G:p.M353V	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0194211936555	0.0038	0.000998403	0.0053	0.0008	0.0036	0	0.0035	0.0081	0.0099	0.0013	0.0051099	790	154602	rs147922549	0.0053	0.0053	0.0055	0.0051	0.0073	0.0052	0.0052	0.0060	0.0059	0.0010	0.0034	0.0064	0	0.0035	0.0073	0.0061	0.0056	0.0010	0.0038	0.0038	0.0039	0.0036	0.0062	0.0035	0.0034	0.0057	0.0055	0.0010	0.0011	0.0025	0.0078	0	0.0027	0.0136	0.0062	0.0061	0.0004	0.139	0.25768	T	0.389	0.15554	T	0.065	0.23521	B	0.016	0.17743	B	0.055900	0.22605	N	0.516989	0.999999	0.08975	N	2.3	0.65703	M	3.71	0.04046	T	-0.7	0.19933	N	0.121	0.11197	-0.4546	0.70248	T	0.491	0.80678	T	10	0.00405249	0.00079	T	0.019421	0.41777	T	0.062	0.17934	.	.	0.104622674875	0.10061	0.273339541682897	0.27246	0.323490542658	0.34515	0.278560519218	0.07293	T	0.001687	0.01111	T	-0.634774	0.00089	T	-0.676624	0.07191	T	0.00641814236293092	0.00071	T	0.523548	0.17131	T	0.03549739	0.04190	0.043645617	0.05476	0.03549739	0.04190	0.043645617	0.05476	-2.109	0.03622	T	.	.	0.083	0.09094	B	.	.	1.229621	0.16240	12.41	0.37671373882032005	0.02496	0.33756	0.24905	N	AEFBI	0.078940	0.15936	N	-0.841319847029646	0.12263	0.5967464	-0.816018951930973	0.14107	0.7354316	0.989449160144716	0.31828	0.732398	0.92422	0	0.59043	0.45803	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	-0.98	0.09747	1.220000	0.32095	0.002000	0.13306	-0.122000	0.13826	0.931000	0.32310	0.003000	0.18671	0.660000	0.32968	0.1345:0.2234:0.1318:0.5103	1.383	0.02100	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.017241	0.000000	0.007576	0.08333	827.83	70	chr6	149836280	.	T	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.56;DP=241;ExcessHet=0;FS=1.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.953;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	5	0	1	0
chr6	149889459	149889459	A	G	exonic	RAET1E	.	nonsynonymous SNV	RAET1E:NM_001243325:exon3:c.T403C:p.W135R,RAET1E:NM_001243327:exon3:c.T511C:p.W171R,RAET1E:NM_139165:exon3:c.T511C:p.W171R,RAET1E:NM_001243328:exon4:c.T511C:p.W171R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.017198776298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.991	0.86255	D	0.017553	0.27695	N	0.182540	0.992675	0.23844	N	.	.	.	0.43	0.56772	T	-12.36	0.99830	D	0.644	0.70351	-0.7783	0.56398	T	0.260	0.63033	T	10	0.9764929	0.97440	D	0.017199	0.38801	T	0.307	0.62838	0.88	0.96835	0.79015365589	0.78820	0.6778243627391832	0.67721	0.553234154126	0.52099	0.39996689558	0.25065	T	0.143053	0.47896	T	0.145305	0.68828	D	-0.0290564	0.68431	D	0.999616026878357	0.98162	D	0.643636	0.25529	T	0.71864164	0.79086	0.7685592	0.86332	0.71864164	0.79087	0.7685592	0.86333	-6.363	0.52841	T	.	.	0.822	0.79416	P	.;.;.;.	.;.;.;.	3.081778	0.41459	21.4	0.97431925585320589	0.33931	0.19217	0.20574	N	AEFDGBHCI	0.101441	0.20374	N	0.23029699912159	0.52672	3.439913	0.0101339749478177	0.40184	2.394183	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.81	3.81	0.43020	3.149000	0.50351	2.358000	0.32355	0.686000	0.82685	0.039000	0.20931	0.002000	0.18203	0.112000	0.18829	1.0:0.0:0.0:0.0	9.303	0.37020	401	0.82673	.;MHC class I-like antigen recognition-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	.	.	.	.	.	.	.	.	0.08333	1682.83	142	chr6	149889459	.	A	G	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.776;DP=320;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.618;SOR=0.884	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1353	5	0	1	0
chr6	150021019	150021019	C	T	exonic	RAET1L	.	nonsynonymous SNV	RAET1L:NM_130900:exon3:c.G517A:p.E173K	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00172519237424	0.0072	0.00319489	0.0052	0.0016	0.0014	0	0.0029	0.0077	0.0011	0.0037	0.0054268	839	154602	rs148198102	0.0081	0.0081	0.0083	0.0078	0.0093	0.0080	0.0079	0.0092	0.0091	0.0010	0.0021	0.0123	5.038e-05	0.0030	0.0017	0.0093	0.0084	0.0037	0.0048	0.0048	0.0056	0.0039	0.0077	0.0045	0.0044	0.0072	0.0070	0.0018	0	0.0022	0.0124	0.0002	0.0021	0	0.0077	0.0033	0.0050	0.003	0.68238	D	0.004	0.74150	D	0.983	0.60381	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	.	.	.	2.98	0.09356	T	-3.33	0.66206	D	0.168	0.17828	-1.0707	0.09260	T	0.026	0.11087	T	9	0.00672698	0.00153	T	0.001725	0.02882	T	0.043	0.11576	.	.	0.254244900254	0.25046	0.23325492473537512	0.23240	0.192957473328	0.21626	0.316740572453	0.12927	T	0.01837	0.14822	T	-0.620221	0.00110	T	-0.65265	0.08769	T	0.0207443749061396	0.00774	T	0.920908	0.71352	D	0.310507	0.53830	0.34226173	0.59955	0.310507	0.53830	0.34226173	0.59954	-6.86	0.53004	T	.	.	0.196	0.41798	B	.;.	.;.	1.899746	0.24129	16.28	0.99206706091487862	0.55442	0.00753	0.03128	N	AEFI	0.023743	0.01365	N	-0.367198781803063	0.26644	1.455756	-0.681990130928375	0.17411	0.9256887	1.15833776898731E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.91	-0.0121	0.13314	-0.062000	0.11631	-4.266000	0.02248	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.6012:0.0:0.3988	4.177	0.09818	299	0.88026	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	2446.83	163	chr6	150021019	.	C	T	2446.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=707;ExcessHet=0;FS=4.791;MLEAC=1;MLEAF=0.083;MQ=59.93;MQRankSum=0;QD=11.71;ReadPosRankSum=0.547;SOR=0.671	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	5	0	1	0
chr6	150065985	150065985	C	T	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon2:c.G266A:p.G89E	.	420	1099	3	0	0	3	0.00136302	.	.	.	2365530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00079006982937	0.0002	0.000399361	4.943e-05	0	8.639e-05	0	0	5.994e-05	0	6.056e-05	5.82e-05	9	154602	rs137927077	8.414e-05	8.414e-05	8.167e-05	8.663e-05	0.0023	7.203e-05	6.75e-05	0.0013	0.0011	0	0.0004	0	0	0	0.0023	6.834e-05	0.0001	9.275e-05	0.0002	0.0002	0.0002	0.0001	0.0011	0.0001	9.695e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	6.14	0.00582	T	2.31	0.00287	N	0.116	0.10483	-1.0122	0.26228	T	0.000	0.00075	T	9	0.0123307705	0.00265	T	7.9E-4	0.00608	T	0.008	0.00669	.	.	0.158396225186	0.15383	0.08141530594845617	0.08076	0.180957177562	0.20352	0.225331068039	0.01641	T	0.002646	0.02035	T	-0.586151	0.00177	T	-0.773765	0.02646	T	0.0172597464117458	0.00468	T	0.362864	0.08399	T	0.05229743	0.09732	0.044724956	0.05858	0.05229743	0.09731	0.044724956	0.05858	-3.59	0.17713	T	.	.	0.092	0.13597	B	.;.	.;.	-1.213674	0.00517	0.012	0.3308138630107727	0.01952	0.00030	0.00276	N	AEFDBI	0.015611	0.00307	N	-1.70814087711651	0.00813	0.03516196	-1.68426287449678	0.01208	0.05441175	0.62687469018617	0.21934	0.732398	0.92422	0	0.59043	0.45803	0	0.667671	0.60360	0	0.727631	0.95156	0	.	.	3.49	-2.06	0.06894	-1.724000	0.01964	-14.301000	0.00411	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3644:0.1963:0.4393	4.019	0.09145	330	0.86467	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1538.83	43	chr6	150065985	.	C	T	1538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=331;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.19;SOR=0.775	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1549,0,1776	5	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.1667	750.04	36	chr6	150389354	.	G	A	750.04	.	AC=2;AF=0.167;AN=12;DP=175;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.79;SOR=0.997	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,801	5	1	0	0
chr6	151351264	151351264	G	T	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2558T:p.R853I,AKAP12:NM_144497:exon2:c.G2579T:p.R860I,AKAP12:NM_005100:exon4:c.G2873T:p.R958I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0099620581271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.106	0.37872	T	0.196	0.32457	B	0.036	0.28749	B	0.377456	0.04399	N	1.454200	1	0.08975	N	1.15	0.29295	L	3.16	0.07711	T	-3.09	0.63438	D	0.124	0.14054	-0.9263	0.44673	T	0.005	0.01578	T	10	0.076340884	0.11912	T	0.009962	0.25923	T	0.014	0.01968	0.207	0.12356	0.28492961333	0.28089	0.13486757621778703	0.13410	0.46476200693	0.45935	0.174578428268	0.00054	T	0.272215	0.64459	T	-0.290656	0.09570	T	-0.655283	0.08587	T	0.199819579720497	0.20406	T	0.835216	0.50504	T	0.09325174	0.21896	0.08079742	0.18306	0.09325174	0.21896	0.08079742	0.18306	-3.513	0.16614	T	.	.	0.137	0.32226	B	.;.;.;.	.;.;.;.	1.219109	0.16129	12.34	0.9562673292356928	0.27403	0.09480	0.15226	N	AEFDBCI	0.048784	0.08360	N	-0.913624971222943	0.10523	0.5032529	-0.963857872835306	0.10603	0.535073	0.998375421432123	0.36850	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.06	0.21	0.14507	1.358000	0.33706	-0.059000	0.12448	0.676000	0.76740	0.818000	0.29961	0.000000	0.08366	0.184000	0.21420	0.52:0.1565:0.19:0.1335	1.524	0.02369	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2688.04	75	chr6	151351264	.	G	T	2688.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=415;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.87;ReadPosRankSum=0.655;SOR=0.232	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	5	1	0	0
chr6	151351365	151351365	G	A	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2659A:p.E887K,AKAP12:NM_144497:exon2:c.G2680A:p.E894K,AKAP12:NM_005100:exon4:c.G2974A:p.E992K	.	425	1091	6	0	0	6	0.00274223	.	.	.	2220478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0266731597487	0.0004	0.000199681	0.0001	9.649e-05	0	0	0	0.0001	0	0.0005	0.0001488	23	154602	rs199808949	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	2.987e-05	6.708e-05	0	0	3.744e-05	0.0003	0.0002	0.0002	0.0007	9.191e-05	9.186e-05	0.0001	8.055e-05	0.0006	5.523e-05	4.361e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	0.0002	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.917	0.70672	D	0.000571	0.43250	D	0.000000	0.991014	0.43409	D	1.995	0.54099	M	2.49	0.14531	T	-2.96	0.61722	D	0.306	0.41261	-1.1459	0.01153	T	0.059	0.24834	T	10	0.11716986	0.22121	T	0.026673	0.49557	D	0.212	0.50341	.	.	0.415820034956	0.41198	0.3295275381166397	0.32865	0.729540741836	0.62671	0.53716892004	0.44046	T	0.336352	0.70587	T	-0.334576	0.05773	T	-0.347286	0.39515	T	0.570143699645996	0.35240	D	0.958004	0.84234	D	0.46357945	0.64893	0.5300753	0.72847	0.46357945	0.64894	0.5300753	0.72848	-4.5	0.32372	T	.	.	0.181	0.45086	B	.;.;.;.	.;.;.;.	4.327622	0.66282	24.9	0.99927080756835429	0.99163	0.75454	0.36944	D	AEFDBCI	0.239943	0.36182	N	0.500865713505945	0.67141	5.042291	0.419803919429386	0.62799	4.501657	0.99982494547127	0.43622	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.92	4.04	0.46262	3.473000	0.52886	10.466000	0.83362	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.041000	0.14368	0.0769:0.0:0.9231:0.0	13.489	0.60837	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1419.83	75	chr6	151351365	.	G	A	1419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=466;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.349;SOR=0.841	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1430,0,1498	5	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	96.87	46	chr6	152331115	.	C	G	96.87	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.751;DP=656;ExcessHet=0;FS=331.703;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.49;SOR=8.739	GT:AD:DP:GQ:PL	0/0:98,31:140:41:0,41,2261	4	0	1	1
chr6	152353298	152353298	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon69:c.A11173G:p.T3725A,SYNE1:NM_182961:exon69:c.A11218G:p.T3740A	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	266351	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|Arthrogryposis_multiplex_congenita_3,_myogenic_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.00733501770578	0.0005	.	0.0005	9.612e-05	8.637e-05	0	0.0002	0.0008	0	0	0.000414	64	154602	rs144797744	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	2.987e-05	6.708e-05	3.826e-05	2.519e-05	0.0002	0.0003	0.0006	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0005	0.0005	4.826e-05	0	0.0001	0	0	0	0	0.0007	0.0005	0	0.03	0.46129	D	0.04	0.65728	D	0.006	0.13644	B	0.003	0.08700	B	0.101887	0.19818	N	0.495207	0.999956	0.19072	N	0	0.06538	N	0.63	0.53088	T	-0.67	0.21429	N	0.127	0.15187	-1.0401	0.17283	T	0.024	0.10239	T	10	0.023053676	0.00592	T	0.007335	0.19442	T	0.030	0.07022	.	.	0.186928172975	0.18263	0.026669246991297507	0.02616	0.129451748039	0.14595	0.248364806175	0.03598	T	0.148242	0.48671	T	-0.540048	0.00335	T	-0.626505	0.10681	T	0.0135413931613622	0.00249	T	0.561944	0.19755	T	0.047970165	0.08288	0.057069294	0.10310	0.047970165	0.08287	0.057069294	0.10310	-3.616	0.18088	T	.	.	0.070	0.03661	B	.;.;.	.;.;.	0.808281	0.11794	8.364	0.43686989497159773	0.03306	0.86521	0.45818	D	AEFBI	0.180100	0.30740	N	-1.01144306903457	0.08365	0.3919834	-0.900029693392584	0.12093	0.6200821	1.34136445292598E-4	0.05486	0.475973	0.10046	0	0.573888	0.26702	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.75	0.531	0.16303	1.797000	0.38438	1.182000	0.24703	-0.123000	0.13640	1.000000	0.71638	0.999000	0.35428	0.738000	0.35369	0.0:0.1347:0.2527:0.6126	6.205	0.19813	859	0.33891	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1829.83	146	chr6	152353298	.	T	C	1829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=321;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.677;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	5	0	1	0
chr6	152367247	152367247	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon62:c.G9964A:p.V3322M,SYNE1:NM_182961:exon62:c.G9943A:p.V3315M	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0258115643914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.92824	D	0.987	0.61912	D	0.794	0.57880	P	0.000028	0.55875	D	0.000000	0.999794	0.49177	D	2.36	0.67893	M	1.32	0.52642	T	-0.74	0.23590	N	0.641	0.67650	-0.7624	0.57275	T	0.244	0.61260	T	10	0.40988135	0.56151	T	0.025812	0.48759	D	0.168	0.42943	0.277	0.23004	0.702165677142	0.69958	0.2844087818107109	0.28353	0.580345339785	0.53887	0.734625935555	0.72183	T	0.258249	0.62938	T	-0.0465581	0.44969	T	-0.304654	0.44230	T	0.965863466262817	0.67401	D	0.942906	0.91141	D	0.1716836	0.37816	0.19951153	0.43837	0.1716836	0.37815	0.19951153	0.43836	-3.508	0.16543	T	.	.	0.139	0.39562	B	.;.;.;.	.;.;.;.	3.371386	0.46592	22.3	0.99890100854072661	0.96436	0.97259	0.73635	D	AEFBI	0.668553	0.63629	D	0.66129879940879	0.77100	6.610464	0.642074287015948	0.78022	6.793248	0.999992392175317	0.74766	0.475973	0.10046	0	0.563428	0.19063	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.17	6.17	0.99707	5.794000	0.68718	5.925000	0.51226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:1.0:0.0:0.0	20.879	0.99870	848	0.35897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1646.83	34	chr6	152367247	.	C	T	1646.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.621;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.543;SOR=0.698	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chr6	158066519	158066519	T	C	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon11:c.T890C:p.M297T,SYNJ2:NM_003898:exon12:c.T1601C:p.M534T	.	434	1051	36	1	0	38	0.017757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0471108017437	0.0043	0.000798722	0.0053	0.0017	0.0060	0	0.0062	0.0060	0.0055	0.0065	0.0050258	777	154602	rs140670406	0.0056	0.0056	0.0056	0.0057	0.0068	0.0055	0.0055	0.0058	0.0058	0.0010	0.0048	0.0055	7.557e-05	0.0051	0.0068	0.0060	0.0061	0.0062	0.0045	0.0045	0.0042	0.0048	0.0067	0.0042	0.0041	0.0062	0.0060	0.0012	0.0055	0.0037	0.0023	0	0.0065	0.0102	0.0067	0.0043	0.0064	0.144	0.25255	T	0.092	0.39954	T	0.001	0.07471	B	0.002	0.10090	B	0.113323	0.19320	N	0.501020	0.960584	0.38188	D	0.455	0.12820	N	-3.59	0.94975	D	-1.56	0.37759	N	0.327	0.36779	0.019	0.82639	D	0.589	0.85298	D	10	0.010551751	0.00234	T	0.047111	0.62773	D	0.329	0.65126	.	.	0.871726672671	0.87048	0.552649446502189	0.55190	0.218780402975	0.24419	0.239437758923	0.02740	T	0.387238	0.74821	T	-0.284348	0.10212	T	-0.177217	0.56780	T	0.00374427043438339	0.00040	T	0.737926	0.35508	T	0.08320107	0.19201	0.12600069	0.30352	0.08320107	0.19201	0.12600069	0.30351	-4.036	0.24341	T	.	.	0.076	0.08754	B	.;.;.	.;.;.	1.442082	0.18620	13.83	0.83304038185294793	0.14653	0.93331	0.57931	D	AEFBI	0.303151	0.41120	N	-0.238356399558222	0.31571	1.77159	-0.113707729520661	0.34837	2.008443	0.99998142565439	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	5.27	4.1	0.47196	2.724000	0.46956	1.118000	0.24218	0.665000	0.62972	1.000000	0.71638	0.885000	0.27754	0.914000	0.44937	0.0:0.1443:0.0:0.8557	9.844	0.40184	958	0.09170	Inositol polyphosphate-related phosphatase;.;Inositol polyphosphate-related phosphatase	.	.	.	.	.	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	0.008056	0.005051	0.006793	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	1625.83	36	chr6	158066519	.	T	C	1625.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.453;DP=368;ExcessHet=0;FS=3.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.092;SOR=0.65	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr6	158074676	158074676	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon15:c.C1519T:p.R507C,SYNJ2:NM_003898:exon16:c.C2230T:p.R744C	.	.	.	.	.	.	.	.	.	.	.	3478284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.805	0.094057213847	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs757678495	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0001	8.31e-06	6.7e-06	5.398e-05	4.044e-05	0	0	0	2.52e-05	0	0	8.094e-06	0	0.0001	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.025	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000022	0.55875	D	0.000000	0.999999	0.58761	D	2.165	0.60562	M	-3.68	0.95282	D	-3.9	0.72932	D	0.53	0.55886	0.952	0.96423	D	0.896	0.96548	D	10	0.81020105	0.80312	D	0.094057	0.76184	D	0.805	0.93660	0.565	0.68633	0.878905868724	0.87772	0.7349865221508605	0.73443	0.866990942957	0.69245	0.639630734921	0.58511	T	0.820087	0.95592	D	0.228241	0.76555	D	0.271604	0.86661	D	0.946112036705017	0.62402	D	0.968103	0.88413	D	0.27907968	0.50959	0.2948314	0.55514	0.27907968	0.50959	0.2948314	0.55513	-9.452	0.71523	D	.	.	0.229	0.49884	B	.;.;.;.	.;.;.;.	6.048371	0.94433	34	0.99933587297301285	0.99488	0.99751	0.99195	D	AEFGBI	0.877579	0.80231	D	0.859313936286307	0.89631	10.05194	0.855232724887464	0.93318	11.96423	0.999999998664791	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.699000	0.83526	7.529000	0.59886	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.111	0.97910	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1563.83	34	chr6	158074676	.	C	T	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=284;ExcessHet=0;FS=7.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.818;SOR=0.302	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	5	0	1	0
chr6	158725512	158725512	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon8:c.G112A:p.A38T,SYTL3:NM_001242395:exon9:c.G526A:p.A176T,SYTL3:NM_001009991:exon10:c.G526A:p.A176T,SYTL3:NM_001242394:exon11:c.G730A:p.A244T,SYTL3:NM_001242384:exon12:c.G730A:p.A244T	.	426	1095	1	0	0	1	0.000456413	.	.	.	3923568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00298635262283	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750019874	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	8.993e-07	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.747	0.05184	T	0.001	0.15093	B	0.001	0.10090	B	0.194266	0.03272	N	1.561630	1	0.21650	N	-0.245	0.03879	N	2.2	0.18570	T	-0.12	0.08809	N	0.066	0.03841	-1.0079	0.27572	T	0.006	0.02093	T	10	0.015941828	0.00335	T	0.002986	0.06369	T	0.012	0.01476	0.201	0.11522	0.0611884634855	0.05136	0.17441694059778903	0.17360	0.0169914472874	0.01642	0.232786029577	0.02181	T	0.004091	0.03502	T	-0.548415	0.00298	T	-0.822883	0.01395	T	0.018556058620157	0.00570	T	0.69713	0.30670	T	0.021507695	0.00757	0.04442486	0.05753	0.021507695	0.00757	0.04442486	0.05753	-4.155	0.33173	T	.	.	0.063	0.01408	B	.;.;.;.	.;.;.;.	-1.040523	0.00715	0.021	0.78976651193765823	0.12535	0.00877	0.03467	N	AEFDBI	0.028114	0.02418	N	-1.36855668143443	0.02937	0.13046	-1.37725390471095	0.03496	0.1631791	0.99288302115318	0.33004	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.42	-5.72	0.02211	-1.393000	0.02627	-1.284000	0.05818	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.6552:0.0:0.2144:0.1304	7.948	0.29157	762	0.50290	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	649.83	34	chr6	158725512	.	G	A	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.546;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.703;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr6	158776414	158776416	CTT	-	exonic	EZR	.	nonframeshift deletion	EZR:NM_003379:exon7:c.787_789del:p.K263del,EZR:NM_001111077:exon8:c.787_789del:p.K263del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	499.79	34	chr6	158776413	.	CCTT	C	499.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.638;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=0.19;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	5	0	1	0
chr6	160122048	160122048	G	A	exonic	SLC22A1	.	nonsynonymous SNV	SLC22A1:NM_003057:exon1:c.G113A:p.G38D,SLC22A1:NM_153187:exon1:c.G113A:p.G38D	.	406	1085	27	4	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	.	0.0015	0.00299521	0.0035	0.0005	0.0036	0	0	0.0051	0.0044	0.0019	0.0033376	516	154602	rs35888596	0.0027	0.0027	0.0025	0.0028	0.0449	0.0026	0.0026	0.0404	0.0387	0.0013	0.0043	0.0349	2.519e-05	5.645e-05	0.0449	0.0018	0.0058	0.0022	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0042	0.0039	0.0006	0.0011	0.0051	0.0375	0.0002	0	0.0646	0.0022	0.0090	0.0014	0.001	0.78490	D	0.004	0.74150	D	0.999	0.90584	D	0.98	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.595	0.93690	H	-0.69	0.74477	T	-5.81	0.89796	D	0.961	0.97426	0.567	0.91463	D	0.679	0.88881	D	10	0.014657378	0.00308	T	.	.	.	0.892	0.96910	.	.	0.795648209137	0.79374	0.8796919050526835	0.87937	0.688094427306	0.60415	0.666530907154	0.62343	T	0.439231	0.78459	T	0.0811231	0.62173	D	0.342913	0.90036	D	0.0767291887891701	0.09564	T	0.849815	0.53298	T	0.88076633	0.89730	0.90945464	0.95650	0.88076633	0.89731	0.90945464	0.95650	-8.143	0.63725	D	.	.	0.828	0.81301	P	.;.;.;.	.;.;.;.	3.791481	0.54572	23.5	0.99864207348351708	0.94276	0.98984	0.89542	D	AEFDBI	0.960016	0.98063	D	0.972892910519621	0.94849	13.09174	0.888011549237918	0.95029	13.248	0.999999999882552	0.74766	0.554377	0.28877	0	0.550933	0.16991	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	9.228000	0.94403	9.547000	0.80972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:1.0:0.0	19.396	0.94596	564	0.70960	.;.;.;.	.	.	.	.	.	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	0.033736	0.000000	0.058424	0.049708	0.000000	0.034483	0.015244	0.007576	0.08333	1797.83	112	chr6	160122048	.	G	A	1797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.012;DP=302;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.983;SOR=0.796	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1278	5	0	1	0
chr6	160537897	160537897	C	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon37:c.G5800A:p.A1934T	.	0	1513	9	0	0	9	0.0029654	.	.	.	2353278	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.0252565184996	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0002	0.0011	0.0010	0.0002329	36	154602	rs189377046	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	5.974e-05	0.0004	0.0006	2.519e-05	0	0.0010	5.126e-05	0.0004	0.0011	9.189e-05	9.842e-05	6.423e-05	0.0001	0.0004	5.522e-05	4.36e-05	7.285e-05	3.027e-05	0	0	0.0001	0.0012	0	0	0	8.819e-05	0	0.0004	0.39	0.10838	T	0.148	0.32675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.51	0.89293	D	-0.68	0.19509	N	0.122	0.11340	-0.4105	0.71695	T	0.509	0.81532	D	9	0.024210155	0.00658	T	0.025257	0.48235	D	0.214	0.50650	.	.	0.367992661779	0.36405	0.21937990519083445	0.21853	.	.	0.354436695576	0.18573	T	.	.	.	-0.322152	0.06723	T	-0.291873	0.45577	T	0.0529448426767918	0.06009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41264	B	.	.	1.663584	0.21216	15.10	0.95477511157285033	0.27034	0.04284	0.09825	N	AEFBI	0.100794	0.20258	N	-0.364883720751343	0.26730	1.461	-0.581473992145408	0.19977	1.07421	4.4137276339742E-4	0.07004	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.62	1.73	0.23565	2.306000	0.43333	1.420000	0.26356	0.306000	0.19039	0.471000	0.26730	0.087000	0.22477	0.000000	0.00833	0.0:0.8698:0.0:0.1302	7.576	0.27106	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1137.83	33	chr6	160537897	.	C	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.588;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.315;SOR=0.691	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1148,0,1445	5	0	1	0
chr6	160586587	160586587	G	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon25:c.C3991A:p.R1331S	.	1	1518	3	0	0	3	0.000987167	.	.	.	2828110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.193	0.00849922304771	0.0018	0.000599042	0.0017	0.0005	0.0023	0	0.0003	0.0024	0.0044	0	0.0017141	265	154602	rs147936725	0.0022	0.0022	0.0022	0.0022	0.0027	0.0021	0.0021	0.0026	0.0026	0.0003	0.0022	7.657e-05	0	0.0004	0.0009	0.0027	0.0015	4.637e-05	0.0018	0.0018	0.0017	0.0019	0.0040	0.0016	0.0016	0.0032	0.0029	0.0008	0	0.0040	0	0	0	0	0.0026	0.0009	0	0.443	0.09182	T	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	-0.73	0.20576	N	0.047	0.01911	-0.9639	0.38428	T	0.121	0.42079	T	9	0.017247856	0.00367	T	0.008499	0.22482	T	0.193	0.47281	.	.	0.0611884634855	0.05136	0.5740356840002586	0.57332	0.103582890826	0.11719	0.515439510345	0.40985	T	.	.	.	-0.623658	0.00104	T	-0.667665	0.07759	T	0.0321944707182085	0.02337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.80694	P	.;.	.;.	-0.422607	0.02129	0.203	0.68488824179843077	0.08674	0.00307	0.01628	N	AEFDI	0.064092	0.12424	N	-0.763556516131837	0.14267	0.7093302	-1.07229981305319	0.08249	0.4047467	0.0014357831446104	0.08535	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	-5.12	0.02674	-2.620000	0.00952	-20.000000	0.00162	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3933:0.1726:0.4341	6.228	0.19931	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2115.83	36	chr6	160586587	.	G	T	2115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=343;ExcessHet=0;FS=4.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.055;SOR=1.08	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr6	160601064	160601064	G	A	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon19:c.C2980T:p.P994S	.	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00530301484674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.09746	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.12	0.87830	T	-0.83	0.22727	N	0.14	0.13911	-1.0153	0.25240	T	0.067	0.27708	T	9	0.12976071	0.24691	T	0.005303	0.13556	T	0.169	0.43123	.	.	0.213573922156	0.20996	0.42694985385214257	0.42611	0.0700158727979	0.07844	0.70603531599	0.68019	T	.	.	.	-0.152737	0.27883	T	-0.457173	0.26907	T	0.109462075570179	0.13367	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42491	B	.;.	.;.	0.248071	0.06276	2.732	0.37581897395792507	0.02485	0.02550	0.07077	N	AEFBI	0.051271	0.09043	N	-0.620552721388175	0.18327	0.9506306	-0.782565660496554	0.14922	0.7822511	2.3288168792104E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.31	1.39	0.21325	0.548000	0.23022	0.130000	0.15034	-1.793000	0.00635	0.063000	0.21864	0.000000	0.08366	0.002000	0.04165	0.0:0.6848:0.3152:0.0	6.618	0.21982	889	0.27310	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	637.83	36	chr6	160601064	.	G	A	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=258;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.248;SOR=1.131	GT:AD:DP:GQ:PL	0/1:48,28:76:99:648,0,1177	5	0	1	0
chr6	160633809	160633809	-	GCTT	exonic	LPA	.	frameshift insertion	LPA:NM_005577:exon8:c.1178_1179insAAGC:p.W394Sfs*11	.	25	1478	19	0	0	19	0.00638655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0009	0.0008	0	0.0004	0.0039	0.0032	0.0001	0.0006662	103	154602	rs762351463	0.0008	0.0027	0.0008	0.0008	0.0016	0.0007	0.0007	0.0009	0.0009	0	0.0002	0.0004	0	4.749e-05	0.0016	0.0010	0.0006	0	0.0008	0.0022	0.0010	0.0006	0.0013	0.0007	0.0007	0.0011	0.0010	0.0004	0	0.0007	0.0012	0	0	0.0054	0.0013	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	633.79	36	chr6	160633809	.	A	AGCTT	633.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.293;DP=492;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.083;MQ=34.83;MQRankSum=-0.209;QD=1.91;ReadPosRankSum=0.057;SOR=0.702	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,429	5	0	1	0
chr6	160731053	160731053	G	A	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon11:c.G1259A:p.G420D	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	2	1499	20	1	0	22	0.00728477	.	.	.	721862	Plasminogen_deficiency,_type_I|Angioedema,_hereditary,_4|not_provided|not_specified|PLG-related_disorder	MONDO:MONDO:0009009,MedGen:C1968804,OMIM:217090,Orphanet:722|MONDO:MONDO:0025712,MedGen:C5543503,OMIM:619360|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0130933545777	0.0015	0.000798722	0.0019	0.0006	0.0022	0	0.0003	0.0028	0.0022	0.0004	0.0018693	289	154602	rs139071351	0.0024	0.0024	0.0024	0.0023	0.0054	0.0023	0.0023	0.0039	0.0034	0.0006	0.0015	0.0052	0	0.0003	0.0054	0.0026	0.0028	0.0009	0.0018	0.0018	0.0020	0.0016	0.0028	0.0017	0.0016	0.0025	0.0024	0.0006	0	0.0014	0.0055	0	0.0007	0.0068	0.0028	0.0052	0.0006	0.872	0.02594	T	1.0	0.01155	T	0.035	0.20614	B	0.107	0.31211	B	0.178306	0.17173	N	0.410936	1	0.08975	N	0.64	0.16041	N	-0.18	0.65747	T	-0.39	0.13611	N	0.072	0.04547	-0.9163	0.46050	T	0.058	0.24465	T	10	0.01172924	0.00255	T	0.013093	0.32217	T	0.236	0.53931	.	.	0.450733807028	0.44697	0.6920846132018005	0.69148	0.291264107057	0.31533	0.384721755981	0.22923	T	0.08321	0.37003	T	-0.55329	0.00279	T	-0.571217	0.15337	T	0.00293976838002257	0.00031	T	0.727127	0.34152	T	0.17778583	0.38763	0.1150387	0.27769	0.17778583	0.38763	0.1150387	0.27768	-4.054	0.24609	T	0.1016413119542937	0.07635	0.073	0.04477	B	.	.	-0.522332	0.01796	0.139	0.67395102283672681	0.08342	0.02844	0.07597	N	ALL	0.577191	0.57889	D	-1.31449162864766	0.03508	0.1568487	-1.36706235653217	0.03609	0.1686872	0.990549622000207	0.32188	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.11	-2.13	0.06745	0.034000	0.13663	-0.051000	0.12545	-0.378000	0.05405	0.031000	0.20493	0.000000	0.08366	0.308000	0.24690	0.7148:0.0:0.2852:0.0	11.49	0.49623	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001521	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.003846	0.08333	556.83	38	chr6	160731053	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.925;DP=237;ExcessHet=0;FS=4.015;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.106;SOR=0.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	5	0	1	0
chr6	160731787	160731787	C	T	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon12:c.C1481T:p.A494V	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	679945	Otitis_media,_susceptibility_to|not_provided	MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	.	0.0085	0.00898562	0.0082	0.0153	0.0310	0.0007	0	0.0067	0.0154	0.0002	0.007943	1228	154602	rs4252128	0.0048	0.0048	0.0049	0.0047	0.0294	0.0047	0.0046	0.0281	0.0275	0.0161	0.0294	0.0588	0.0013	3.744e-05	0.0274	0.0024	0.0121	0.0004	0.0097	0.0097	0.0099	0.0095	0.0189	0.0093	0.0091	0.0171	0.0164	0.0165	0	0.0189	0.0606	0.0015	0	0.0442	0.0035	0.0147	0.0012	0.014	0.53172	D	0.301	0.20293	T	0.992	0.64738	D	0.928	0.66279	D	0.051001	0.23021	U	0.204869	0.871976	0.28192	N	2.835	0.82492	M	-0.05	0.63403	T	-2.38	0.52451	N	0.319	0.35938	-0.5027	0.68553	T	0.354	0.71735	T	10	0.006421864	0.00145	T	.	.	.	0.281	0.59861	.	.	0.879256654498	0.87807	0.9470999344416133	0.94692	0.764815853878	0.64440	0.386979937553	0.23243	T	0.170333	0.51804	T	-0.462974	0.00942	T	-0.415494	0.31594	T	0.0510961458304338	0.05691	T	0.865613	0.56501	D	0.40057975	0.60773	0.28265077	0.54254	0.40057975	0.60773	0.28265077	0.54253	-9.693	0.72053	D	0.09881414717756476	0.07107	0.330	0.55194	B	.	.	3.859389	0.55956	23.7	0.99877461595648165	0.95410	0.77636	0.38195	D	AEFBI	0.941528	0.94492	D	0.442024568810016	0.63752	4.615072	0.261246359392058	0.53291	3.498781	0.999588408453391	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	5.708000	0.68030	4.639000	0.44147	0.449000	0.21268	0.995000	0.38783	1.000000	0.68203	0.002000	0.04165	0.0:1.0:0.0:0.0	12.491	0.55240	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	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	0.045821	0.111111	0.051630	0.020468	0.000000	0.025862	0.027439	0.018939	0.08333	861.83	38	chr6	160731787	.	C	T	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.992;DP=245;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.289;SOR=0.505	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	5	0	1	0
chr6	165298038	165298038	C	T	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon5:c.G1000A:p.A334T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0154990882602	7.7e-05	.	0.0002	9.619e-05	0.0002	0	0.0002	0.0003	0	6.235e-05	0.0001617	25	154602	rs202037689	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	5.977e-05	0.0002	0.0009	2.519e-05	9.387e-05	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.827e-05	0	0.0001	0.0003	0	9.416e-05	0	0.0003	0	0	0.01	0.56456	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000271	0.46590	D	0.089004	0.999954	0.19072	N	1.975	0.53506	M	2.6	0.13204	T	-3.15	0.64132	D	0.517	0.54757	-1.1135	0.02785	T	0.048	0.20434	T	10	0.2908033	0.46660	T	0.015499	0.36266	T	0.148	0.39182	.	.	0.0884992946249	0.08302	0.0976945828578769	0.09700	0.360962373885	0.37756	0.377084195614	0.21843	T	0.032098	0.22339	T	-0.304892	0.08206	T	-0.35766	0.38323	T	0.199699228471907	0.20399	T	0.667533	0.27667	T	0.17327994	0.38067	0.1624651	0.37738	0.17327994	0.38066	0.1624651	0.37737	-4.46	0.30362	T	.	.	0.199	0.42259	B	.	.	3.714164	0.53042	23.3	0.99838459179734129	0.91886	0.20169	0.20940	N	AEFBI	0.061261	0.11698	N	0.0673551535373611	0.44945	2.759411	-0.125811757882736	0.34352	1.975088	2.99274535083825E-4	0.06406	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.67	3.79	0.42757	0.596000	0.23744	4.624000	0.44088	0.599000	0.40250	0.142000	0.23535	1.000000	0.68203	0.001000	0.02609	0.1978:0.8022:0.0:0.0	10.246	0.42521	986	0.02773	Translin-associated factor X-interacting protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1821.83	34	chr6	165298038	.	C	T	1821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.903;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1445	5	0	1	0
chr6	165302227	165302227	G	A	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon2:c.C95T:p.T32M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000884694508073	.	.	9.915e-05	0	0.0002	0.0001	0	0.0001	0	0	7.76e-05	12	154602	rs759307180	4.31e-05	4.378e-05	3.54e-05	5.089e-05	0.0007	3.443e-05	3.129e-05	0.0002	0.0002	5.975e-05	0.0004	3.826e-05	7.557e-05	3.748e-05	0.0007	2.338e-05	8.281e-05	4.64e-05	3.941e-05	4.594e-05	3.856e-05	4.031e-05	0.0002	1.715e-05	1.129e-05	5.282e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.044	0.41096	D	0.016	0.60972	D	0.132	0.27209	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	2.64	0.12780	T	-0.12	0.08809	N	0.168	0.17828	-0.9345	0.43470	T	0.005	0.01833	T	9	0.048029304	0.04199	T	8.85E-4	0.00800	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.2541862911940872	0.25332	0.0668708633351	0.07459	.	.	.	3.25E-4	0.00087	T	-0.51854	0.00449	T	-0.672105	0.07474	T	0.0226529217007345	0.00983	T	0.581242	0.21054	T	0.019573247	0.00490	0.04355475	0.05446	0.019573247	0.00490	0.04355475	0.05445	-8.869	0.66849	D	.	.	0.104	0.18991	B	.	.	1.296732	0.16982	12.89	0.79960043561229943	0.12980	0.00069	0.00489	N	AEFBI	0.022772	0.01181	N	-1.06529538454357	0.07291	0.338243	-1.15394349939353	0.06697	0.3232466	1.36607074696467E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.454	0.454	0.15857	1.504000	0.35333	-0.388000	0.09495	0.000000	0.17513	0.178000	0.24038	0.002000	0.18203	0.048000	0.15020	0.3693:0.0:0.6307:0.0	2.870	0.05269	980	0.04108	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	1247.83	88	chr6	165302227	.	G	A	1247.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.72;DP=270;ExcessHet=0;FS=5.532;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.432;SOR=1.325	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	5	0	1	0
chr6	165392781	165392781	C	A	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon16:c.G1521T:p.K507N,PDE10A:NM_001385079:exon16:c.G2319T:p.K773N,PDE10A:NM_006661:exon17:c.G1491T:p.K497N	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0416252036857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229026933	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.015	0.17086	B	0.009	0.14300	B	0.000002	0.62929	D	0.130364	0.99927	0.46519	D	1.95	0.52479	M	-1.16	0.78082	T	-4.87	0.81269	D	.	.	-0.7638	0.57198	T	0.182	0.52904	T	10	0.29654253	0.47218	T	0.041625	0.60030	D	0.196	0.47777	0.55	0.66576	0.648415186659	0.64550	0.9004474980275059	0.90016	1.10781785835	0.77950	0.740118801594	0.72990	T	0.013296	0.50957	T	-0.0913658	0.37851	T	-0.272163	0.47600	T	0.355610907077789	0.27238	T	0.969103	0.88867	D	0.4635326	0.64890	0.15367876	0.36103	0.4635326	0.64891	0.15367876	0.36102	-5.854	0.45042	T	.	.	0.847	0.79626	P	.;.;.;.;.;.	.;.;.;.;.;.	3.545825	0.49816	22.8	0.99428695923094956	0.64130	0.88030	0.47783	D	AEFBI	0.502752	0.53503	D	-0.132856687249546	0.35966	2.072741	-0.0328643312560443	0.38241	2.250152	5.58965143579051E-4	0.07304	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.43	3.24	0.36257	1.307000	0.33121	0.111000	0.14782	0.549000	0.26987	0.996000	0.39380	0.003000	0.18671	0.998000	0.85391	0.0:0.6172:0.0:0.3828	7.351	0.25866	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1039.83	40	chr6	165392781	.	C	A	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.762;DP=255;ExcessHet=0;FS=3.164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.901;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	5	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A,PDE10A:NM_001385079:exon15:c.C2257G:p.P753A,PDE10A:NM_006661:exon16:c.C1429G:p.P477A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	427	1092	3	0	0	3	0.00137174	.	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	774.83	65	chr6	165395227	.	G	C	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.223;SOR=0.725	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	5	0	1	0
chr6	167004287	167004287	G	T	exonic	CEP43	.	nonsynonymous SNV	CEP43:NM_001278690:exon5:c.G324T:p.E108D,CEP43:NM_007045:exon5:c.G324T:p.E108D,CEP43:NM_194429:exon5:c.G324T:p.E108D	.	437	1065	20	0	0	20	0.00930233	.	.	.	3296927	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00482829371378	0.0008	0.000199681	0.0012	0	0.0003	0	0.0012	0.0015	0.0022	0.0021	0.0011449	177	154602	rs150980464	0.0011	0.0011	0.0010	0.0012	0.0061	0.0011	0.0010	0.0045	0.0040	0.0001	0.0007	0.0003	0	0.0012	0.0061	0.0011	0.0011	0.0020	0.0010	0.0010	0.0009	0.0011	0.0021	0.0008	0.0008	0.0012	0.0010	0.0003	0	0.0017	0.0003	0	0.0012	0.0068	0.0012	0.0014	0.0021	0.219	0.19500	T	0.475	0.17531	T	0.117	0.28404	B	0.145	0.33871	B	0.000007	0.62929	D	0.106388	0.99169	0.41451	D	0.82	0.20857	L	1.44	0.32722	T	-0.42	0.14193	N	0.378	0.48504	-1.0231	0.22704	T	0.015	0.06042	T	10	0.017407238	0.00371	T	0.004828	0.12098	T	0.088	0.25558	0.447	0.50629	0.412434490787	0.40856	0.1967041617966551	0.19587	0.0856515615091	0.09678	0.744154751301	0.73584	T	0.046112	0.27325	T	-0.446358	0.01186	T	-0.420723	0.30994	T	0.0222868833948933	0.00941	T	0.755524	0.41060	T	0.18760195	0.40221	0.10838155	0.26108	0.18760195	0.40221	0.10838155	0.26107	-5.456	0.42370	T	.	.	0.175	0.39168	B	.;.;.	.;.;.	2.502051	0.32303	19.00	0.99222417532008056	0.55932	0.80276	0.39957	D	AEFBI	0.206456	0.33271	N	-0.59114217793133	0.19212	1.003751	-0.413885063937899	0.24589	1.347357	0.999934020635687	0.46732	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.34	3.58	0.40133	2.117000	0.41563	3.672000	0.39440	-0.795000	0.03215	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.2715:0.0:0.7285:0.0	7.668	0.27611	994	0.00715	FGFR1 oncogene partner (FOP), N-terminal dimerisation domain;FGFR1 oncogene partner (FOP), N-terminal dimerisation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.007576	0.08333	1100.83	35	chr6	167004287	.	G	T	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.443;DP=243;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.751;SOR=0.51	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	5	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A,UNC93A:NM_018974:exon8:c.T1334C:p.V445A	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019553	0.017857	0.000000	0.033613	0.000000	0.017241	0.027972	0.027778	0.08333	58.83	37	chr6	167315412	.	T	C	58.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=303;ExcessHet=0;FS=6.018;MLEAC=1;MLEAF=0.083;MQ=57.76;MQRankSum=-7.505;QD=0.78;ReadPosRankSum=0.347;SOR=1.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1346:.	5	0	1	0
chr6	167340931	167340931	A	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.A1031C:p.K344T	.	432	1069	19	2	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00154577874248	0.0005	0.000998403	0.0013	9.61e-05	0.0002	0	0	0.0004	0.0022	0.0078	0.0010543	163	154602	rs146295287	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	0	0.0001	0	2.519e-05	0	0.0076	0.0002	0.0010	0.0082	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	4.817e-05	0	0.0002	0	0	0	0	0.0004	0	0.0060	0.007	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.985	0.76457	D	0.002034	0.37411	N	0.159801	0.987245	0.24536	N	2.43	0.70455	M	3.38	0.05778	T	-4.11	0.74980	D	0.397	0.43803	-1.1011	0.03961	T	0.025	0.10643	T	10	0.010228634	0.00228	T	0.001546	0.02420	T	0.072	0.21020	.	.	0.262662153117	0.25859	0.6282461185719669	0.62757	0.565748960011	0.52901	0.371026456356	0.20979	T	0.01456	0.12376	T	-0.475804	0.00783	T	-0.45153	0.27528	T	0.0616771880338444	0.07429	T	0.714629	0.32694	T	0.3679429	0.58432	0.31032136	0.57043	0.3679429	0.58432	0.31032136	0.57043	-6.996	0.54005	T	.	.	0.220	0.45074	B	.;.	.;.	2.550494	0.33007	19.21	0.99630248474974281	0.76020	0.32261	0.24541	N	AEFBHCI	0.145505	0.26872	N	0.044515280591658	0.43891	2.673259	-0.167817901167994	0.32728	1.865	0.947404356873519	0.27751	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	1.37	0.21200	0.779000	0.26407	1.966000	0.29963	0.587000	0.30956	0.923000	0.32050	0.003000	0.18671	0.692000	0.33898	0.8004:0.0:0.1996:0.0	7.627	0.27383	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.008152	0.008772	0.000000	0.017241	0.012195	0.007576	0.08333	2437.83	154	chr6	167340931	.	A	C	2437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=639;ExcessHet=0;FS=6.095;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.62;SOR=0.535	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	5	0	1	0
chr6	167969811	167969811	G	A	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon32:c.G5108A:p.G1703E,AFDN:NM_001291964:exon33:c.G5222A:p.G1741E,AFDN:NM_001366319:exon33:c.G5345A:p.G1782E,AFDN:NM_001366320:exon33:c.G5351A:p.G1784E,AFDN:NM_001366321:exon33:c.G5330A:p.G1777E	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	.	0.0041	0.00299521	0.0010	0.0115	0.0003	0	0	0	0.0011	0	0.000912	141	154602	rs6921553	0.0003	0.0004	0.0004	0.0003	0.0117	0.0003	0.0003	0.0108	0.0104	0.0117	0.0009	0	0	0	0.0010	1.26e-05	0.0010	0	0.0036	0.0037	0.0034	0.0039	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0014	0	0	0	0	2.94e-05	0.0033	0	0.003	0.91255	D	0.327	0.30729	T	0.998	0.73220	D	0.941	0.67658	D	0.001674	0.38326	N	0.168410	0.999743	0.48716	D	2.215	0.62545	M	3.66	0.04746	T	-1.65	0.45404	N	0.505	0.78356	-0.7326	0.58832	T	0.225	0.58894	T	10	0.0068939924	0.00157	T	.	.	.	0.153	0.40148	.	.	0.123314135267	0.11883	0.21570064282913454	0.21486	.	.	0.517325758934	0.41250	T	0.025764	0.75362	T	-0.434133	0.01400	T	-0.385347	0.35095	T	0.0535833403493452	0.06118	T	0.846715	0.53247	T	0.24028657	0.46930	0.3911136	0.63890	0.24028657	0.46930	0.3911136	0.63890	-4.801	0.34603	T	.	.	0.226	0.46097	B	.;.;.;.;.	.;.;.;.;.	4.632781	0.73682	26.0	0.99761699449945063	0.85091	0.99633	0.98183	D	AEFDBI	0.927376	0.90994	D	0.450226543643914	0.64217	4.67118	0.501157152101135	0.68070	5.169396	0.999996845962803	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	8.925000	0.92380	11.623000	0.93636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.224	0.93795	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	915.06	33	chr6	167969811	.	G	A	915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.183;DP=189;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.485;SOR=0.746	GT:AD:DP:GQ:PL	0/1:25,21:46:99:486,0,657	4	0	2	0
chr6	167976307	167976307	G	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346G:p.P116A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0073	0	0	0	0	0	0	9.06e-05	14	154602	rs71573433	0	1.392e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.872e-05	0.0002	7.356e-05	0.0001	0.0004	5.797e-05	4.532e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1045.19	47	chr6	167976307	.	G	C	1045.19	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.593;DP=236;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.4;MQRankSum=-1.515;QD=16.59;ReadPosRankSum=0.448;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:16:48:1|1:167976273_A_C:690,48,0:167976273	4	1	1	0
chr6	167976415	167976498	GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.155_238del:p.Q52_S79del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0016	0.0014	7.263e-05	0.0008	0.0004	0	0.0004	0.0004	5.461e-05	0.0002	0.0020	0.0033	0.0055	0.0034	0.0032	0.0116	0.0030	0.0029	0.0083	0.0072	0.0045	0.0032	0.0045	0.0018	0.0116	0.0029	0.0054	0.0021	0.0027	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	35.86	53	chr6	167976414	.	GGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT	G	35.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.89;MQRankSum=0.431;QD=11.95;ReadPosRankSum=0.967;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,1:3:46:46,0,74	5	0	1	0
chr6	167976497	167976497	T	0	exonic	HGC6.3	.	.	.	.	599	835	31	1	56	89	0.0193776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	53.88	40	chr6	167976497	.	T	*	53.88	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.67;DP=192;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.78;MQRankSum=-1.985;QD=2.07;ReadPosRankSum=0.579;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,1:3:46:.:.:46,0,74:.	4	0	1	1
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.08333	156.83	20	chr6	168664103	.	A	G	156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.83;DP=183;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=-1.745;SOR=0.223	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,977	5	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2681.43	64	chr6	170561964	.	G	*	2681.43	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,36:101:99:1|0:170561949_GCAA_G:1267,0,2513:170561949	1	1	3	1
chr6	170580067	170580067	-	T	exonic	PDCD2	.	frameshift insertion	PDCD2:NM_001363655:exon4:c.696dupA:p.H233Tfs*2,PDCD2:NM_002598:exon4:c.696dupA:p.H233Tfs*2,PDCD2:NM_001199462:exon5:c.597dupA:p.H200Tfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	523.79	33	chr6	170580067	.	G	GT	523.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.084;SOR=0.776	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,803	5	0	1	0
chr7	195687	195687	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G739A:p.E247K	Raine syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	425745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0880899506735	0.0002	0.000599042	0.0004	0.0001	8.66e-05	0	0.0002	0.0001	0	0.0021	0.0003169	49	154602	rs374098657	0.0001	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	8.976e-05	6.731e-05	3.833e-05	2.528e-05	3.812e-05	0.0002	2.701e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.696e-05	0.0014	0.0011	0.0001	0	0.0002	0	0	9.416e-05	0	4.41e-05	0	0.0025	0.238	0.17821	T	0.284	0.21411	T	0.226	0.30455	B	0.026	0.20792	B	0.023599	0.26414	N	0.228496	0.55817	0.31279	N	.	.	.	-1.02	0.76300	T	-1.99	0.45949	N	0.364	0.40565	-0.4596	0.70081	T	0.301	0.67195	T	10	0.017036289	0.00362	T	0.08809	0.75065	D	0.242	0.54781	.	.	0.215239754934	0.21150	0.43518058081431044	0.43435	0.550286484915	0.51898	0.433739870787	0.29721	T	0.00691	0.06335	T	-0.392971	0.02574	T	-0.356267	0.38486	T	0.0316362716257572	0.02247	T	0.910309	0.68205	D	0.15260598	0.34633	0.104235	0.25030	0.15260598	0.34633	0.104235	0.25029	-10.487	0.76772	D	.	.	0.081	0.08224	B	.	.	3.238080	0.44185	21.9	0.98816681608441526	0.46704	0.87131	0.46579	D	AEFDBCI	0.620358	0.60545	D	-0.241857553892081	0.31430	1.76226	-0.191720203428999	0.31840	1.805702	0.999999999642179	0.74766	0.706548	0.73137	0	0.578056	0.33634	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	3.291000	0.51470	6.528000	0.55850	0.674000	0.70861	0.915000	0.31815	1.000000	0.68203	0.049000	0.15107	0.084:0.0:0.916:0.0	12.352	0.54484	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	510.83	35	chr7	195687	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.515;DP=251;ExcessHet=0;FS=0.915;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.31;ReadPosRankSum=0.025;SOR=0.899	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1219	5	0	1	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	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	38.87	14	chr7	290724	.	A	G	38.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=119;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.1;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,693:.	5	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	131.58	14	chr7	290725	.	C	G	131.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.359;DP=125;ExcessHet=1.383;FS=83.886;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=-0.568;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,3:24:38:.:.:0,38,406:.	2	0	3	1
chr7	848558	848558	C	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367636:exon6:c.C649G:p.H217D,SUN1:NM_001367646:exon6:c.C649G:p.H217D,SUN1:NM_001367655:exon6:c.C649G:p.H217D,SUN1:NM_001367666:exon6:c.C649G:p.H217D,SUN1:NM_001367673:exon6:c.C649G:p.H217D,SUN1:NM_001367681:exon6:c.C649G:p.H217D,SUN1:NM_001367684:exon6:c.C649G:p.H217D,SUN1:NM_001367691:exon6:c.C649G:p.H217D,SUN1:NM_001367706:exon6:c.C649G:p.H217D,SUN1:NM_001367640:exon7:c.C799G:p.H267D,SUN1:NM_001367641:exon7:c.C799G:p.H267D,SUN1:NM_001367674:exon7:c.C799G:p.H267D,SUN1:NM_001367675:exon7:c.C799G:p.H267D,SUN1:NM_001367676:exon7:c.C799G:p.H267D,SUN1:NM_001367677:exon7:c.C799G:p.H267D,SUN1:NM_001367678:exon7:c.C799G:p.H267D,SUN1:NM_001367682:exon7:c.C799G:p.H267D,SUN1:NM_001367687:exon7:c.C799G:p.H267D,SUN1:NM_001367690:exon7:c.C799G:p.H267D,SUN1:NM_001367692:exon7:c.C799G:p.H267D,SUN1:NM_001367698:exon7:c.C799G:p.H267D,SUN1:NM_001367699:exon7:c.C799G:p.H267D,SUN1:NM_001367700:exon7:c.C799G:p.H267D,SUN1:NM_001367703:exon7:c.C799G:p.H267D,SUN1:NM_001367705:exon7:c.C799G:p.H267D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0134916001056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.22920	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.02	0.21119	T	-0.74	0.20791	N	.	.	-1.0123	0.26196	T	0.042	0.17910	T	8	0.13292325	0.25300	T	0.013492	0.32933	T	0.045	0.12272	.	.	0.117191471859	0.11215	.	.	.	.	.	.	.	0.012393	0.10902	T	-0.327189	0.06326	T	-0.707761	0.05412	T	0.0413823313444732	0.03942	T	0.458654	0.13238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23986	B	.	.	1.819030	0.23114	15.89	0.87450918200104333	0.17236	0.52579	0.29165	D	AEFDGBI	0.115575	0.22718	N	-0.695670258105031	0.16145	0.8199675	-0.582347222217622	0.19954	1.072882	0.0931603696469884	0.16175	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.34	1.67	0.23149	1.703000	0.37465	1.495000	0.26916	-1.097000	0.01519	0.997000	0.40164	0.999000	0.35428	0.857000	0.40602	0.0:0.1855:0.1913:0.6232	4.300	0.10366	895	0.25842	SUN domain-containing protein 1, 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	.	.	.	.	.	.	.	.	0.08333	823.83	37	chr7	848558	.	C	G	823.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.454;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.39;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	5	0	1	0
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C,SUN1:NM_001130965:exon6:c.G738T:p.W246C,SUN1:NM_001367639:exon6:c.G282T:p.W94C,SUN1:NM_001367660:exon6:c.G588T:p.W196C,SUN1:NM_001367662:exon6:c.G588T:p.W196C,SUN1:NM_001367670:exon6:c.G588T:p.W196C,SUN1:NM_001367671:exon6:c.G588T:p.W196C,SUN1:NM_001367633:exon7:c.G738T:p.W246C,SUN1:NM_001367644:exon7:c.G672T:p.W224C,SUN1:NM_001367645:exon7:c.G699T:p.W233C,SUN1:NM_001367653:exon7:c.G738T:p.W246C,SUN1:NM_001367658:exon7:c.G88T:p.A30S,SUN1:NM_001367665:exon7:c.G738T:p.W246C,SUN1:NM_001367667:exon7:c.G699T:p.W233C,SUN1:NM_001367669:exon7:c.G765T:p.W255C,SUN1:NM_001367672:exon7:c.G738T:p.W246C,SUN1:NM_001367679:exon7:c.G699T:p.W233C,SUN1:NM_001367680:exon7:c.G672T:p.W224C,SUN1:NM_001367681:exon7:c.G786T:p.W262C,SUN1:NM_001367689:exon7:c.G699T:p.W233C,SUN1:NM_001367694:exon7:c.G738T:p.W246C,SUN1:NM_001367695:exon7:c.G660T:p.W220C,SUN1:NM_001367701:exon7:c.G672T:p.W224C,SUN1:NM_001367634:exon8:c.G738T:p.W246C,SUN1:NM_001367635:exon8:c.G392T:p.G131V,SUN1:NM_001367638:exon8:c.G849T:p.W283C,SUN1:NM_001367646:exon8:c.G870T:p.W290C,SUN1:NM_001367647:exon8:c.G783T:p.W261C,SUN1:NM_001367649:exon8:c.G783T:p.W261C,SUN1:NM_001367664:exon8:c.G849T:p.W283C,SUN1:NM_001367668:exon8:c.G783T:p.W261C,SUN1:NM_001367673:exon8:c.G870T:p.W290C,SUN1:NM_001367674:exon8:c.G936T:p.W312C,SUN1:NM_001367683:exon8:c.G822T:p.W274C,SUN1:NM_001367684:exon8:c.G897T:p.W299C,SUN1:NM_001367685:exon8:c.G849T:p.W283C,SUN1:NM_001367688:exon8:c.G822T:p.W274C,SUN1:NM_001367696:exon8:c.G849T:p.W283C,SUN1:NM_001367706:exon8:c.G870T:p.W290C,SUN1:NM_001367636:exon9:c.G981T:p.W327C,SUN1:NM_001367641:exon9:c.G1020T:p.W340C,SUN1:NM_001367643:exon9:c.G933T:p.W311C,SUN1:NM_001367651:exon9:c.G1152T:p.W384C,SUN1:NM_001367655:exon9:c.G981T:p.W327C,SUN1:NM_001367666:exon9:c.G981T:p.W327C,SUN1:NM_001367677:exon9:c.G1047T:p.W349C,SUN1:NM_001367682:exon9:c.G1020T:p.W340C,SUN1:NM_001367691:exon9:c.G981T:p.W327C,SUN1:NM_001367692:exon9:c.G1047T:p.W349C,SUN1:NM_001367693:exon9:c.G933T:p.W311C,SUN1:NM_001367697:exon9:c.G933T:p.W311C,SUN1:NM_001367698:exon9:c.G1020T:p.W340C,SUN1:NM_001367678:exon10:c.G1131T:p.W377C,SUN1:NM_001367687:exon10:c.G1131T:p.W377C,SUN1:NM_001367699:exon10:c.G1131T:p.W377C,SUN1:NM_001367703:exon10:c.G1131T:p.W377C,SUN1:NM_001367705:exon10:c.G1131T:p.W377C	.	428	1011	77	6	0	89	0.0421601	.	.	.	457959	not_provided|Emery-Dreifuss_muscular_dystrophy|SUN1-related_disorder	MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022704	0.000000	0.016349	0.026471	0.050000	0.060345	0.033951	0.022727	0.08333	1176.83	36	chr7	851463	.	G	T	1176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.821;DP=276;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.394;SOR=0.895	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr7	852813	852813	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001171944:exon7:c.G605A:p.G202D,SUN1:NM_001367708:exon8:c.G347A:p.G116D,SUN1:NM_025154:exon8:c.G665A:p.G222D,SUN1:NM_001130965:exon9:c.G914A:p.G305D,SUN1:NM_001367639:exon9:c.G455A:p.G152D,SUN1:NM_001367648:exon9:c.G776A:p.G259D,SUN1:NM_001367660:exon9:c.G764A:p.G255D,SUN1:NM_001367662:exon9:c.G761A:p.G254D,SUN1:NM_001367670:exon9:c.G764A:p.G255D,SUN1:NM_001367671:exon9:c.G761A:p.G254D,SUN1:NM_001367686:exon9:c.G746A:p.G249D,SUN1:NM_001367633:exon10:c.G914A:p.G305D,SUN1:NM_001367642:exon10:c.G899A:p.G300D,SUN1:NM_001367644:exon10:c.G845A:p.G282D,SUN1:NM_001367645:exon10:c.G875A:p.G292D,SUN1:NM_001367653:exon10:c.G914A:p.G305D,SUN1:NM_001367665:exon10:c.G911A:p.G304D,SUN1:NM_001367667:exon10:c.G875A:p.G292D,SUN1:NM_001367669:exon10:c.G941A:p.G314D,SUN1:NM_001367672:exon10:c.G914A:p.G305D,SUN1:NM_001367679:exon10:c.G872A:p.G291D,SUN1:NM_001367680:exon10:c.G848A:p.G283D,SUN1:NM_001367681:exon10:c.G962A:p.G321D,SUN1:NM_001367689:exon10:c.G875A:p.G292D,SUN1:NM_001367694:exon10:c.G911A:p.G304D,SUN1:NM_001367695:exon10:c.G836A:p.G279D,SUN1:NM_001367701:exon10:c.G848A:p.G283D,SUN1:NM_001367702:exon10:c.G926A:p.G309D,SUN1:NM_001367704:exon10:c.G926A:p.G309D,SUN1:NM_001367634:exon11:c.G914A:p.G305D,SUN1:NM_001367635:exon11:c.G563A:p.G188D,SUN1:NM_001367638:exon11:c.G1022A:p.G341D,SUN1:NM_001367640:exon11:c.G1094A:p.G365D,SUN1:NM_001367646:exon11:c.G1043A:p.G348D,SUN1:NM_001367647:exon11:c.G956A:p.G319D,SUN1:NM_001367649:exon11:c.G959A:p.G320D,SUN1:NM_001367664:exon11:c.G1025A:p.G342D,SUN1:NM_001367668:exon11:c.G956A:p.G319D,SUN1:NM_001367673:exon11:c.G1046A:p.G349D,SUN1:NM_001367674:exon11:c.G1112A:p.G371D,SUN1:NM_001367675:exon11:c.G1097A:p.G366D,SUN1:NM_001367676:exon11:c.G1097A:p.G366D,SUN1:NM_001367683:exon11:c.G998A:p.G333D,SUN1:NM_001367684:exon11:c.G1073A:p.G358D,SUN1:NM_001367685:exon11:c.G1025A:p.G342D,SUN1:NM_001367688:exon11:c.G995A:p.G332D,SUN1:NM_001367696:exon11:c.G1025A:p.G342D,SUN1:NM_001367700:exon11:c.G1124A:p.G375D,SUN1:NM_001367706:exon11:c.G1046A:p.G349D,SUN1:NM_001367636:exon12:c.G1154A:p.G385D,SUN1:NM_001367641:exon12:c.G1196A:p.G399D,SUN1:NM_001367643:exon12:c.G1106A:p.G369D,SUN1:NM_001367651:exon12:c.G1328A:p.G443D,SUN1:NM_001367655:exon12:c.G1157A:p.G386D,SUN1:NM_001367666:exon12:c.G1157A:p.G386D,SUN1:NM_001367677:exon12:c.G1220A:p.G407D,SUN1:NM_001367682:exon12:c.G1196A:p.G399D,SUN1:NM_001367690:exon12:c.G1205A:p.G402D,SUN1:NM_001367691:exon12:c.G1154A:p.G385D,SUN1:NM_001367692:exon12:c.G1223A:p.G408D,SUN1:NM_001367693:exon12:c.G1109A:p.G370D,SUN1:NM_001367697:exon12:c.G1109A:p.G370D,SUN1:NM_001367698:exon12:c.G1193A:p.G398D,SUN1:NM_001367678:exon13:c.G1304A:p.G435D,SUN1:NM_001367687:exon13:c.G1304A:p.G435D,SUN1:NM_001367699:exon13:c.G1304A:p.G435D,SUN1:NM_001367703:exon13:c.G1307A:p.G436D,SUN1:NM_001367705:exon13:c.G1307A:p.G436D	.	431	1088	3	0	0	3	0.00137678	.	.	.	1363527	Emery-Dreifuss_muscular_dystrophy	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0129529059266	.	.	2.487e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs781390393	3.424e-06	4.104e-06	1.362e-06	5.509e-06	4.647e-05	1e-06	7.3e-07	1.585e-05	9.31e-06	0	0	0	0	0	0	9.002e-07	0	4.647e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.116	0.65419	T	0.025	0.67890	D	1.0	0.90584	D	0.993	0.81110	D	0.004268	0.33923	N	0.365001	0.999996	0.08975	N	.	.	.	2.05	0.26885	T	-4.75	0.84035	D	0.871	0.86833	-1.0379	0.17954	T	0.115	0.40853	T	10	0.35424358	0.52212	T	0.012953	0.31963	T	0.162	0.41843	.	.	0.431114715335	0.42728	0.7620975714698097	0.76157	0.436034313164	0.43706	0.372851073742	0.21240	T	0.311356	0.68325	T	-0.109875	0.34789	T	-0.192004	0.55401	T	0.855277955532074	0.50626	D	0.776522	0.45053	T	.	.	.	.	.	.	.	.	-14.533	0.94660	D	.	.	0.770	0.75913	P	.;.;.;.;.;.	.;.;.;.;.;.	3.220461	0.43878	21.8	0.99689114061869688	0.79775	0.83781	0.42877	D	AEFGBI	0.305053	0.41258	N	0.184608472665149	0.50461	3.235798	0.0767542807877799	0.43383	2.641126	0.679719719569011	0.22465	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.52	0.54797	3.833000	0.55492	5.820000	0.50076	0.676000	0.76740	0.887000	0.31133	1.000000	0.68203	0.505000	0.29129	0.0841:0.0:0.9159:0.0	11.691	0.50778	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	988.83	36	chr7	852813	.	G	A	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.295;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-1.114;SOR=0.738	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1316	5	0	1	0
chr7	985245	985245	C	-	exonic	CYP2W1	.	frameshift deletion	CYP2W1:NM_017781:exon4:c.567delC:p.Y190Tfs*55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	473.79	34	chr7	985244	.	AC	A	473.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=195;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-0.267;SOR=1.179	GT:AD:DP:GQ:PL	0/1:13,14:27:99:484,0,444	5	0	1	0
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008836	0.000000	0.008264	0.009036	0.000000	0.018182	0.009494	0.007752	0.08333	168.83	19	chr7	987514	.	G	A	168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.85;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.661;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	5	0	1	0
chr7	988740	988740	C	T	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon9:c.C1391T:p.P464L	.	387	1128	6	1	0	8	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.045092674562	0.0045	0.00139776	0.0051	0.0023	0.0031	0	0.0054	0.0069	0.0080	0.0036	0.0048318	747	154602	rs149976257	0.0071	0.0071	0.0074	0.0069	0.0083	0.0070	0.0070	0.0081	0.0081	0.0013	0.0037	0.0038	2.52e-05	0.0041	0.0023	0.0083	0.0051	0.0039	0.0050	0.0050	0.0054	0.0046	0.0080	0.0047	0.0046	0.0075	0.0073	0.0015	0.0274	0.0037	0.0040	0.0004	0.0024	0.0034	0.0080	0.0066	0.0033	0.258	0.16683	T	0.036	0.52060	D	0.772	0.43974	P	0.116	0.31939	B	0.117877	0.19136	N	0.573455	1	0.08975	N	0.895	0.22405	L	-0.4	0.69287	T	-2.59	0.55821	D	0.061	0.03283	-0.8222	0.53796	T	0.190	0.54153	T	10	0.0039518178	0.00076	T	0.045093	0.61813	D	0.144	0.38394	.	.	0.576907859032	0.57359	0.4940565454649463	0.49326	0.209163875076	0.23382	0.579017043114	0.49947	T	0.049647	0.28367	T	-0.464357	0.00923	T	-0.432402	0.29663	T	0.0115027526456319	0.00173	T	0.694731	0.30434	T	0.077569194	0.17613	0.063532785	0.12599	0.077569194	0.17613	0.063532785	0.12599	-5.798	0.44557	T	.	.	0.101	0.17657	B	.	.	1.652926	0.21087	15.04	0.97544198428318873	0.34528	0.07550	0.13563	N	AEFDBHCIJ	0.206787	0.33302	N	-0.516982243449109	0.21530	1.14333	-0.623462053315648	0.18891	1.011186	0.999999999740137	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	4.65	2.47	0.29113	0.685000	0.25058	2.085000	0.30516	0.519000	0.23678	0.000000	0.06391	0.006000	0.19429	0.003000	0.05239	0.21:0.6899:0.0:0.1001	6.931	0.23621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.005155	0.002717	0.002924	0.000000	0.008621	0.003049	0.011364	0.08333	586.83	35	chr7	988740	.	C	T	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=231;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.278;SOR=0.536	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	5	0	1	0
chr7	1010113	1010113	C	A	exonic	C7orf50	.	nonsynonymous SNV	C7orf50:NM_001134395:exon3:c.G160T:p.A54S,C7orf50:NM_001134396:exon3:c.G160T:p.A54S,C7orf50:NM_001318252:exon3:c.G160T:p.A54S,C7orf50:NM_001350968:exon3:c.G160T:p.A54S,C7orf50:NM_001350969:exon3:c.G118T:p.A40S,C7orf50:NM_032350:exon3:c.G160T:p.A54S	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000951276224655	0.0039	0.00119808	0.0043	0.0021	0.0026	0	0.0049	0.0056	0.0086	0.0033	0.0044954	695	154602	rs34458355	0.0064	0.0064	0.0066	0.0061	0.0075	0.0063	0.0062	0.0074	0.0073	0.0013	0.0034	0	0	0.0037	0.0005	0.0075	0.0045	0.0034	0.0044	0.0044	0.0047	0.0040	0.0072	0.0041	0.0040	0.0067	0.0065	0.0012	0.0275	0.0036	0	0.0004	0.0023	0	0.0072	0.0057	0.0019	0.305	0.14256	T	0.533	0.15506	T	0.01	0.15535	B	0.004	0.10090	B	0.316007	0.04044	N	1.626230	1	0.08975	N	1.24	0.30952	L	.	.	.	-0.15	0.09297	N	0.098	0.07949	-1.0070	0.27850	T	0.048	0.20434	T	9	0.0033142269	0.00057	T	9.51E-4	0.00957	T	0.011	0.01250	.	.	0.110078149338	0.10416	0.09317787634839428	0.09249	0.0278430330954	0.02857	.	.	.	0.007415	0.11022	T	-0.539879	0.00335	T	-0.53888	0.18406	T	0.00125443922670724	0.00012	T	0.492651	0.15191	T	0.02868024	0.02242	0.033988245	0.02386	0.02868024	0.02242	0.033988245	0.02385	-4.476	0.30573	T	.	.	0.085	0.11701	B	.;.;.;.;.	.;.;.;.;.	-0.201885	0.03081	0.483	0.73628713485054642	0.10397	0.11773	0.16852	N	AEFDGBCI	0.051710	0.09163	N	-1.15448532085802	0.05706	0.2608511	-1.38222380227301	0.03441	0.1605257	0.990703876817785	0.32242	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	2.81	-5.26	0.02559	-0.003000	0.12836	-3.258000	0.02929	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2743:0.3148:0.15:0.2609	0.405	0.00402	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1702.83	36	chr7	1010113	.	C	A	1702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=263;ExcessHet=0;FS=2.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=1.44;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.08333	778.83	44	chr7	1434651	.	T	G	778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.968;DP=272;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.111;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	5	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	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	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.25	2089.03	62	chr7	1440649	.	C	T	2089.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.54;DP=272;ExcessHet=1.383;FS=0.585;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.332;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	3	0	3	0
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H,MAD1L1:NM_001304524:exon15:c.G1451A:p.R484H,MAD1L1:NM_001304523:exon16:c.G1727A:p.R576H,MAD1L1:NM_001013836:exon17:c.G1727A:p.R576H,MAD1L1:NM_001013837:exon17:c.G1727A:p.R576H,MAD1L1:NM_003550:exon17:c.G1727A:p.R576H	Lymphoma, somatic (3);Prostate cancer, somatic	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002049	0.000000	0.001366	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	638.83	35	chr7	1936767	.	C	T	638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.168;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.159;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	5	0	1	0
chr7	2526878	2526878	G	A	exonic	LFNG	.	nonsynonymous SNV	LFNG:NM_001040167:exon7:c.G1030A:p.V344I,LFNG:NM_001040168:exon7:c.G1030A:p.V344I,LFNG:NM_001166355:exon8:c.G817A:p.V273I,LFNG:NM_002304:exon8:c.G643A:p.V215I	.	.	.	.	.	.	.	.	.	.	.	3984436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.0222771651493	7.7e-05	.	1.714e-05	0	0	0	0	1.571e-05	0	6.117e-05	1.29e-05	2	154602	rs143802425	1.78e-05	1.915e-05	1.771e-05	1.789e-05	0.0003	1.239e-05	1.052e-05	6.092e-05	2.521e-05	8.961e-05	0	0	0	0	0.0003	1.619e-05	3.313e-05	1.159e-05	9.226e-05	9.2e-05	6.439e-05	0.0001	0.0002	5.543e-05	4.377e-05	7.921e-05	5.607e-05	0.0002	0	6.557e-05	0	0	0	0	8.835e-05	0	0	0.669	0.04575	T	0.599	0.07972	T	0.507	0.40310	P	0.182	0.35926	B	0.000182	0.48115	N	0.210172	0.790615	0.29230	N	-0.445	0.02820	N	0.04	0.62051	T	-0.1	0.09135	N	0.172	0.19728	-0.9104	0.46805	T	0.088	0.34078	T	10	0.06268421	0.08051	T	0.022277	0.45152	T	0.091	0.26358	.	.	0.398283496042	0.39440	0.3122882686237473	0.31141	0.3878823604	0.40057	0.339162051678	0.16313	T	0.261696	0.63320	T	-0.366762	0.03761	T	-0.527936	0.19493	T	0.0186861573754763	0.00581	T	0.869313	0.57326	D	0.024934834	0.01376	0.03177623	0.01816	0.024934834	0.01376	0.03177623	0.01816	-3.812	0.21614	T	0.08943496067484633	0.05467	0.067	0.04041	B	.;.;.;.;.;.	.;.;.;.;.;.	1.472442	0.18966	14.02	0.69452547619725602	0.08977	0.61949	0.31635	D	AEFDGBI	0.076635	0.15421	N	-0.782805219641252	0.13758	0.6801174	-0.803334026381927	0.14416	0.7530534	0.999994822624725	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.46	0.53	0.16296	2.741000	0.47100	0.968000	0.23038	0.676000	0.76740	0.996000	0.39380	0.185000	0.23452	0.510000	0.29244	0.8219:0.0:0.1781:0.0	8.702	0.33493	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1659.83	103	chr7	2526878	.	G	A	1659.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.65;DP=281;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.9;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	5	0	1	0
chr7	2646946	2646946	C	T	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon2:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0764809837884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324679621	3.453e-06	1.915e-05	2.749e-06	4.164e-06	0.0002	1.01e-06	7.4e-07	1.594e-05	9.37e-06	0	0	0	0	0	0.0002	0	0	4.687e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.63226	D	0.002	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000131	0.49741	D	0.171092	0.999983	0.54805	D	2.64	0.77224	M	2.55	0.13795	T	-2.43	0.63323	N	0.634	0.65930	-1.0716	0.09065	T	0.092	0.35174	T	10	0.4432236	0.58234	T	0.076481	0.72541	D	0.236	0.53931	0.502	0.59460	0.143184338766	0.13958	0.6211951010481327	0.62052	0.388535252049	0.40113	0.751979410648	0.74738	T	0.278326	0.65098	T	-0.0848433	0.38924	T	-0.359648	0.38094	T	0.84624719619751	0.49845	D	0.972403	0.89999	D	0.103265755	0.24407	0.095759876	0.22725	0.103265755	0.24407	0.095759876	0.22724	-9.169	0.68778	D	.	.	0.139	0.48551	B	.;.;.	.;.;.	5.118959	0.85616	28.7	0.99905579275119227	0.97651	0.96808	0.71050	D	ALL	0.661771	0.63188	D	0.476204980437262	0.65704	4.856049	0.416011669079748	0.62563	4.473676	0.99999999999545	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.96	4.05	0.46415	1.838000	0.38851	4.818000	0.45095	0.524000	0.24156	0.985000	0.35982	1.000000	0.68203	0.997000	0.79791	0.1558:0.8442:0.0:0.0	14.175	0.65071	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	834.83	36	chr7	2646946	.	C	T	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.972;DP=258;ExcessHet=0;FS=1.91;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.833;SOR=0.945	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	5	0	1	0
chr7	3967322	3967322	C	G	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon10:c.C1434G:p.I478M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00199681	0.0012	0	8.637e-05	0	0	0	0	0.0087	0.001022	158	154602	rs527487069	0.0005	0.0005	0.0003	0.0007	0.0083	0.0005	0.0005	0.0078	0.0076	0	0	0	0	0	0.0005	2.703e-06	0.0004	0.0083	0.0003	0.0003	0.0002	0.0004	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.137	0.26085	T	0.184	0.29153	T	0.028	0.19712	B	0.009	0.14300	B	0.040637	0.24037	N	0.371038	0.999994	0.08975	N	0.825	0.20901	L	-3.9	0.96015	D	-0.75	0.21003	N	0.374	0.41557	-0.5785	0.65676	T	0.502	0.81218	D	10	0.007853299	0.00178	T	.	.	.	0.273	0.58883	0.436	0.48828	0.343101102393	0.33919	0.4438150469648736	0.44299	0.0787918062119	0.08867	0.285283118486	0.08240	T	0.028614	0.20688	T	-0.338614	0.05485	T	-0.252349	0.49585	T	0.0539649895247358	0.06183	T	0.883612	0.60617	D	0.073734656	0.16497	0.049960468	0.07742	0.073734656	0.16497	0.049960468	0.07742	-6.221	0.48093	T	.	.	0.091	0.20078	B	.;.;.	.;.;.	-1.760669	0.00171	0.003	0.86319561071092799	0.16457	0.03770	0.09084	N	AEFGBI	0.074032	0.14827	N	-1.72158043511646	0.00768	0.03317358	-1.82966906176687	0.00669	0.02974827	0.999999999888175	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.65	-11.3	0.00084	-1.520000	0.02345	-7.789000	0.01086	-0.827000	0.02907	0.005000	0.17040	0.000000	0.08366	0.444000	0.27761	0.078:0.3921:0.2027:0.3271	4.447	0.11026	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1445.83	35	chr7	3967322	.	C	G	1445.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.039;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	5	0	1	0
chr7	5064954	5064954	G	A	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.G1498A:p.D500N,RBAK:NM_001204456:exon6:c.G1498A:p.D500N	.	413	1091	17	1	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00121223142827	0.0009	0.00139776	0.0015	0.0010	0.0008	0	0	0.0014	0.0011	0.0038	0.0012872	199	154602	rs149739845	0.0009	0.0009	0.0008	0.0011	0.0054	0.0009	0.0009	0.0040	0.0039	0.0005	0.0006	0.0017	0	1.872e-05	0.0054	0.0007	0.0012	0.0044	0.0008	0.0008	0.0007	0.0009	0.0044	0.0007	0.0006	0.0029	0.0025	0.0007	0	0.0009	0.0009	0	9.464e-05	0.0034	0.0008	0.0005	0.0044	0.502	0.07695	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.233062	0.15876	N	0.565121	.	.	.	-0.45	0.02807	N	2.49	0.14531	T	-0.09	0.08340	N	0.088	0.06587	-0.9827	0.34375	T	0.016	0.06616	T	8	0.006048858	0.00136	T	0.001212	0.01583	T	0.018	0.03083	.	.	0.0482279557977	0.04254	0.11366945105048618	0.11294	0.0712543647857	0.07981	0.293589174747	0.09449	T	0.01575	0.13153	T	-0.740965	0.00020	T	-0.837641	0.01135	T	0.000333575056128164	0.00003	T	0.166283	0.01543	T	0.01795362	0.00318	0.020732109	0.00152	0.01795362	0.00318	0.020732109	0.00152	-4.298	0.28149	T	.	.	0.082	0.08754	B	.;.	.;.	0.761272	0.11309	7.932	0.7951076946333282	0.12775	0.00009	0.00143	N	AEFDGBHCI	0.041901	0.06431	N	-1.04311244204094	0.07723	0.3597564	-1.08192594315864	0.08057	0.3944742	0.0136590108915788	0.12493	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	3.77	-1.42	0.08446	-0.698000	0.05194	-0.421000	0.09284	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.3632:0.3103:0.3266:0.0	4.422	0.10912	917	0.20147	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	0.006546	0.000000	0.008152	0.008772	0.000000	0.008621	0.015244	0.003788	0.08333	1059.83	86	chr7	5064954	.	G	A	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=286;ExcessHet=0;FS=2.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.951;SOR=1.106	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	5	0	1	0
chr7	5333004	5333004	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon19:c.G5765A:p.R1922H	.	436	1085	0	1	0	2	0.00092081	.	.	.	3336470	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0354672727271	0.0002	.	0.0003	0	0	0	0	0.0005	0	0.0002	7.12e-05	11	154602	rs368584372	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.051e-05	0.0001	0	0	0	0	0.0003	0.0003	7.271e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.746e-05	8.26e-05	0.0002	0.0002	0	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.018	0.50676	D	0.015	0.61642	D	0.99	0.63424	D	0.765	0.56630	P	.	.	.	.	0.826547	0.34854	D	1.845	0.48678	L	2.26	0.17596	T	-2.87	0.60348	D	0.245	0.27673	-1.0286	0.20908	T	0.064	0.26491	T	9	0.1473675	0.27925	T	0.035467	0.56363	D	0.076	0.22200	.	.	0.043077524339	0.03247	0.17250649875772875	0.17170	1.38456906483	0.84856	0.781819581985	0.79202	T	0.075321	0.35149	T	-0.420961	0.01686	T	-0.49752	0.22605	T	0.268180680578214	0.23669	T	0.867913	0.56927	D	0.108111255	0.25563	0.13239737	0.31771	0.108111255	0.25563	0.13239737	0.31770	-5.071	0.37600	T	.	.	0.125	0.26451	B	.;.	.;.	2.881932	0.38144	20.7	0.98857199737165269	0.47407	0.87722	0.47358	D	AEFDGBI	0.226611	0.35053	N	0.212771994475382	0.51818	3.360162	0.174839319599821	0.48474	3.06269	0.965387337082696	0.28827	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.38	3.45	0.38602	0.951000	0.28733	4.262000	0.42810	-0.267000	0.06790	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	0.0:0.8225:0.1775:0.0	11.868	0.51783	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001366	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	505.83	34	chr7	5333004	.	C	T	505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.762;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.138;SOR=0.816	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,743	5	0	1	0
chr7	5359443	5359443	G	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon15:c.C4788A:p.N1596K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00448945077156	8.1e-05	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs369331019	8.894e-06	8.893e-06	8.168e-06	9.627e-06	8.994e-06	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	4.969e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.289	0.15149	T	1.0	0.01155	T	0.009	0.15093	B	0.002	0.06944	B	0.217903	0.16208	N	0.560274	0.863718	0.28316	N	1.355	0.33814	L	2.87	0.40749	T	-1.4	0.34596	N	0.419	0.45898	-1.0342	0.19109	T	0.068	0.27743	T	10	0.072695404	0.10886	T	0.004489	0.11031	T	0.089	0.25827	0.167	0.07186	0.043077524339	0.03247	0.0393523972740733	0.03881	0.0669625001767	0.07473	0.294202566147	0.09539	T	0.015279	0.12850	T	-0.289343	0.09701	T	-0.637912	0.09823	T	0.43219119310379	0.30142	T	0.767123	0.43036	T	0.07630735	0.17248	0.08420207	0.19352	0.07630735	0.17248	0.08420207	0.19352	2.119	0.00046	T	.	.	0.268	0.53448	B	.;.;.	.;.;.	2.517905	0.32531	19.07	0.98478450792170691	0.41943	0.90624	0.51955	D	AEFDBI	0.170751	0.29768	N	-0.264745674613395	0.30519	1.702482	-0.0378756507874952	0.38020	2.234067	0.986061619211613	0.30998	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.064000	0.49680	6.728000	0.56449	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0792:0.0:0.9208:0.0	12.022	0.52640	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1982.83	36	chr7	5359443	.	G	T	1982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.483;DP=366;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.856;SOR=0.586	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr7	5388749	5388749	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon5:c.G1075A:p.V359I	.	.	.	.	.	.	.	.	.	.	.	4082238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.510328789378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331565450	1.931e-05	5.541e-05	1.595e-05	2.294e-05	2.736e-05	1.241e-05	1.053e-05	1.419e-05	1.153e-05	0	0	0	0	0	0	2.173e-05	0	2.736e-05	1.346e-05	1.32e-05	2.626e-05	0	2.993e-05	2.24e-06	8.4e-07	4.97e-06	1.86e-06	0	0	0	0	0	0	0	2.993e-05	0	0	0.501	0.07746	T	0.396	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999664	0.20745	N	-0.345	0.03330	N	2.86	0.10482	T	0.19	0.04947	N	0.116	0.10483	-0.9197	0.45594	T	0.011	0.04134	T	9	0.09999272	0.18182	T	0.510329	0.95291	D	0.031	0.07369	0.24	0.17218	0.043077524339	0.03247	0.04501997667572351	0.04445	1.40764129348	0.85361	0.844457387924	0.88775	D	0.007804	0.07183	T	-0.347909	0.04860	T	-0.737523	0.03996	T	0.210636308211726	0.20986	T	0.578742	0.20864	T	0.04315968	0.06676	0.068091355	0.14173	0.04315968	0.06675	0.068091355	0.14172	-5.354	0.40474	T	.	.	0.072	0.04436	B	.;.	.;.	1.398817	0.18123	13.56	0.97070931287413076	0.32239	0.19925	0.20848	N	AEFDBCI	0.054347	0.09874	N	-0.641641511435935	0.17703	0.9132671	-0.475192855725965	0.22839	1.242543	0.103987205550107	0.16462	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.604944	0.38103	0	.	.	3.66	2.61	0.30255	0.724000	0.25624	0.995000	0.23219	0.503000	0.22915	1.000000	0.71638	0.643000	0.25925	0.091000	0.17840	0.0:0.3921:0.0:0.6078	4.710	0.12247	893	0.26510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	281.83	42	chr7	5388749	.	C	T	281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.301;DP=139;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=1.12;SOR=0.806	GT:AD:DP:GQ:PL	0/0:19,0:19:45:0,45,675	5	0	1	0
chr7	5938820	5938820	T	G	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon16:c.A1768C:p.M590L,RSPH10B:NM_173565:exon16:c.A1768C:p.M590L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0109352750802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206477234	2.558e-05	9.351e-06	0	4.656e-05	.	9.48e-06	6.44e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	1.863e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.899	0.02430	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.227462	0.15996	U	0.586539	1	0.81001	D	1.83	0.48079	L	1.01	0.41058	T	-0.11	0.08653	N	0.094	0.08646	-1.0814	0.07079	T	0.066	0.27364	T	10	0.037033826	0.02035	T	0.010935	0.28020	T	0.124	0.34239	0.383	0.40134	0.162503812791	0.15892	0.19331548203316545	0.19249	.	.	0.749081373215	0.74311	T	0.001088	0.00603	T	-0.146183	0.28910	T	-0.447758	0.27945	T	0.0526970950410469	0.05966	T	0.607939	0.22935	T	0.17443527	0.38248	0.12569885	0.30282	0.17443527	0.38248	0.12569885	0.30281	-1.77	0.02421	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	2.241041	0.28615	17.86	0.46310898861828326	0.03700	0.60990	0.31354	D	AEI	0.129632	0.24788	N	-0.417687169885348	0.24848	1.344671	-0.242149101795655	0.30043	1.688191	2.69963157417864E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.51	4.51	0.54589	3.006000	0.49215	5.040000	0.46903	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.194:0.806	8.599	0.32894	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	446.7	.	chr7	5938820	.	T	G	446.7	.	AC=2;AF=0.333;AN=6;DP=64;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=31.38;QD=26.28;SOR=0.804	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,611	2	1	0	3
chr7	6036129	6036129	C	A	exonic	ANKRD61	.	nonsynonymous SNV	ANKRD61:NM_001271700:exon3:c.C1000A:p.L334I	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	.	0.00359425	0.0056	0.0021	0.0102	0.0021	0.0141	0.0103	0.0095	0.0008	0.0020246	313	154602	rs117715040	0.0089	0.0085	0.0090	0.0087	0.0130	0.0087	0.0087	0.0106	0.0097	0.0011	0.0058	0.0141	2.798e-05	0.0146	0.0130	0.0097	0.0083	0.0008	0.0064	0.0064	0.0062	0.0067	0.0084	0.0061	0.0060	0.0078	0.0076	0.0022	0.0033	0.0041	0.0156	0.0002	0.0160	0.0408	0.0084	0.0062	0.0008	0.0	0.91255	D	0.02	0.58613	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.999825	0.49512	D	2.75	0.80375	M	1.06	0.39781	T	-1.15	0.29525	N	0.431	0.47022	-0.9550	0.40096	T	0.091	0.34955	T	7	0.009520173	0.00215	T	.	.	.	0.219	0.51417	.	.	0.146414634003	0.14194	0.4042201142318326	0.40338	.	.	0.525072216988	0.42340	T	0.016966	0.13922	T	-0.250482	0.14039	T	-0.121545	0.61675	T	0.113345832179516	0.13767	T	0.522448	0.17034	T	0.43481648	0.63067	0.5732601	0.75283	0.43481648	0.63068	0.5732601	0.75284	-6.161	0.47607	T	.	.	0.171	0.37558	B	.	.	2.106957	0.26808	17.25	0.99352550740671919	0.60656	0.82184	0.41451	D	AEFBI	0.143616	0.26636	N	-0.231731538815071	0.31839	1.789343	-0.304273811030339	0.27961	1.555316	0.023710298744365	0.13526	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.49	3.71	0.41733	0.079000	0.14636	.	.	0.599000	0.40250	0.919000	0.31930	0.000000	0.08366	0.091000	0.17840	0.0:0.7441:0.0:0.2559	8.519	0.32423	692	0.58729	Ankyrin repeat-containing domain	PMS2|CCZ1B	Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	CCZ1B|CCZ1B	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs117715040	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1623.83	34	chr7	6036129	.	C	A	1623.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.066;DP=297;ExcessHet=0;FS=8.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-2.422;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1132	5	0	1	0
chr7	6154192	6154192	G	C	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon15:c.G2638C:p.A880P,USP42:NM_032172:exon15:c.G2638C:p.A880P	.	.	.	.	.	.	.	.	.	.	.	2339847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0244403867907	0.0002	.	0.0002	0	9.081e-05	0	0	0.0004	0	0	0.0001617	25	154602	rs201567953	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0	4.513e-05	0.0051	0	0	0.0007	4.061e-05	0.0005	0	0.0001	0.0001	0.0001	0.0002	4.411e-05	9.743e-05	8.257e-05	1.171e-05	6.25e-06	2.411e-05	0	0	0.0049	0	0	0	4.411e-05	0.0005	0	0.036	0.43393	D	0.289	0.21078	T	0.167	0.28604	B	0.049	0.25116	B	0.852015	0.08956	N	0.938103	1	0.08975	N	0	0.06538	N	0.66	0.52416	T	-1.3	0.32590	N	0.082	0.05799	-1.0435	0.16265	T	0.047	0.20275	T	10	0.0061540008	0.00138	T	0.02444	0.47428	T	0.046	0.12618	.	.	0.123314135267	0.11883	0.18753117934340424	0.18671	0.0759444557685	0.08528	0.299917459488	0.10389	T	0.017832	0.14480	T	-0.369372	0.03626	T	-0.572719	0.15202	T	0.0213835445808508	0.00841	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	-3.407	0.15150	T	.	.	0.067	0.03736	B	.;.	.;.	0.334457	0.07081	3.654	0.93666214687309857	0.23558	0.03385	0.08491	N	AEFDBCI	0.044032	0.07036	N	-1.58986058654798	0.01316	0.05730841	-1.65718021301302	0.01339	0.06045008	0.287161897738172	0.19048	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	4.22	-5.1	0.02691	-0.411000	0.07205	.	.	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1125:0.0846:0.5064:0.2965	4.380	0.10721	613	0.66686	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	659.83	38	chr7	6154192	.	G	C	659.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.693;DP=223;ExcessHet=0;FS=2.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.39;SOR=0.34	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr7	7531484	7531484	C	T	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon3:c.G545A:p.G182E	.	436	1073	13	0	0	13	0.00602131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0296635243123	0.0007	0.000199681	0.0011	0.0002	0.0012	0	0	0.0013	0.0033	0.0020	0.0009961	154	154602	rs201967894	0.0007	0.0008	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0079	0.0002	0.0010	0.0106	0	0	0.0108	0.0004	0.0018	0.0016	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0006	0.0005	0.0002	0	0.0007	0.0115	0	0	0.0034	0.0008	0.0043	0.0010	0.01	0.56456	D	0.01	0.65728	D	0.999	0.77913	D	0.977	0.73820	D	0.153103	0.17902	U	0.505872	0.999773	0.48980	D	2.24	0.63355	M	-0.07	0.63738	T	-5.44	0.85397	D	0.732	0.73285	-0.2889	0.75295	T	0.373	0.73167	T	10	0.023703396	0.00628	T	0.029664	0.52133	D	0.528	0.80067	.	.	0.463414561204	0.45969	0.605758391111315	0.60506	0.250625226812	0.27637	0.62706053257	0.56728	T	0.216551	0.57875	T	-0.0390297	0.46094	T	0.15793	0.80680	D	0.0471129754404522	0.04985	T	0.791621	0.43272	T	0.6055087	0.72987	0.69344234	0.81955	0.6055087	0.72988	0.69344234	0.81956	-9.08	0.68210	D	.	.	0.164	0.36134	B	.	.	3.902348	0.56852	23.8	0.99781899517084316	0.86867	0.94507	0.61389	D	AEFI	0.640899	0.61843	D	0.461203190935839	0.64842	4.748023	0.391503108828037	0.61040	4.298757	0.403910874983275	0.20154	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	3.3	0.36912	2.405000	0.44201	4.328000	0.43018	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8455:0.1545:0.0	13.867	0.63095	793	0.45818	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.005435	0.026316	0.000000	0.025862	0.000000	0.003788	0.08333	1243.83	38	chr7	7531484	.	C	T	1243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.928;DP=312;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.773;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr7	7969649	7969649	C	T	exonic	GLCCI1	.	nonsynonymous SNV	GLCCI1:NM_138426:exon1:c.C299T:p.A100V	.	544	956	18	4	0	26	0.0134159	.	.	.	2828319	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0686408083084	.	0.00179712	0	.	.	.	.	.	.	.	0.0016136	42	26028	rs545986371	0.0052	0.0038	0.0051	0.0052	0.0133	0.0050	0.0050	0.0091	0.0077	0.0006	0.0027	0.0035	0	0.0016	0.0133	0.0052	0.0057	0.0064	0.0042	0.0041	0.0045	0.0039	0.0093	0.0039	0.0038	0.0072	0.0064	0.0014	0	0.0037	0.0035	0	0.0033	0	0.0062	0.0044	0.0093	0.098	0.30800	T	0.12	0.35970	T	0.133	0.27236	B	0.037	0.23121	B	0.575456	0.11196	U	0.753024	0.999998	0.08975	N	0.55	0.14455	N	.	.	.	-1.04	0.27259	N	0.07	0.04307	-1.0273	0.21331	T	0.065	0.26878	T	9	0.0012222826	0.00013	T	0.068641	0.70508	D	0.029	0.06676	.	.	.	.	0.36313711105675534	0.36227	0.704620403043	0.61339	0.869236528873	0.92459	D	0.028456	0.20609	T	-0.6065	0.00133	T	-0.643018	0.09451	T	0.100193137873478	0.12378	T	0.50295	0.15803	T	0.041186877	0.06020	0.051433187	0.08275	0.041186877	0.06020	0.051433187	0.08274	-5.935	0.45733	T	.	.	0.101	0.17742	B	.	.	2.708300	0.35391	19.89	0.99231310907088921	0.56214	0.01392	0.04728	N	AEFDBHCI	0.043369	0.06847	N	-0.665260610469291	0.17017	0.8721214	-0.651388387608389	0.18181	0.9701436	0.999999978869478	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.231153	0.04653	2	0.554799	0.18163	0	.	.	2.7	0.63	0.16865	0.191000	0.16883	2.136000	0.30812	0.464000	0.21668	0.230000	0.24643	1.000000	0.68203	0.956000	0.50813	0.0:0.3585:0.4875:0.154	4.584	0.11666	924	0.18029	.	.	.	.	.	.	Likely benign	0	0	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	0.010989	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.062500	0.1	63.85	21	chr7	7969649	.	C	T	63.85	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.524;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	4	0	1	1
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.08333	900.83	41	chr7	12380643	.	G	C	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.03;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.022;SOR=0.651	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	5	0	1	0
chr7	16600937	16600937	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1150T:p.L384F	.	427	1087	8	0	0	8	0.00366636	.	.	.	2385510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0136870305644	.	.	8.452e-05	0	0	0.0002	0	4.564e-05	0	0.0003	7.12e-05	11	154602	rs201863855	6.088e-05	6.293e-05	5.135e-05	7.057e-05	0.0016	4.995e-05	4.666e-05	0.0008	0.0006	0	2.566e-05	0.0003	5.125e-05	0	0.0016	2.648e-05	0.0001	0.0004	4.603e-05	4.598e-05	2.571e-05	6.732e-05	0.0006	2.111e-05	1.528e-05	0.0002	9.003e-05	0	0	0	0.0006	0	0	0	1.47e-05	0.0005	0.0006	0.14	0.25664	T	0.088	0.40586	T	0.214	0.30086	B	0.07	0.27859	B	0.444346	0.04778	N	1.303420	0.999902	0.19694	N	1.245	0.31408	L	-0.58	0.71425	T	-1.62	0.38924	N	0.08	0.05542	-0.9400	0.42616	T	0.190	0.54198	T	10	0.040706664	0.02663	T	0.013687	0.33283	T	0.103	0.29403	0.089	0.00982	0.627878856413	0.62484	0.11700394179336271	0.11628	0.068787038064	0.07702	0.300751328468	0.10512	T	0.013161	0.11438	T	-0.357304	0.04284	T	-0.450695	0.27620	T	0.021150966567398	0.00817	T	0.679032	0.28770	T	0.04604887	0.07641	0.06541775	0.13256	0.04604887	0.07640	0.06541775	0.13256	-6.442	0.49836	T	.	.	0.071	0.03887	B	.	.	1.691972	0.21554	15.25	0.98852641643805272	0.47322	0.11201	0.16476	N	AEFBI	0.063998	0.12402	N	-0.687944334588868	0.16364	0.8330771	-0.669170788666536	0.17734	0.9442391	0.00325566253908062	0.10018	0.706548	0.73137	0	0.627178	0.54094	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	1.56	0.22423	1.331000	0.33398	1.256000	0.25200	0.676000	0.76740	0.218000	0.24513	0.001000	0.17328	0.894000	0.43146	0.1664:0.297:0.5366:0.0	5.925	0.18339	939	0.14249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	705.83	41	chr7	16600937	.	G	A	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.782;DP=234;ExcessHet=0;FS=8.257;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.616;SOR=0.171	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1274	5	0	1	0
chr7	17339293	17339293	A	G	exonic	AHR	.	nonsynonymous SNV	AHR:NM_001621:exon10:c.A1468G:p.M490V	.	417	1061	44	0	0	44	0.0203139	.	.	.	1155650	AHR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	0.00592794406859	0.0010	0.00139776	0.0019	0.0005	0.0038	0.0002	0	0.0023	0.0044	0.0010	0.0017852	276	154602	rs61755968	0.0015	0.0015	0.0015	0.0016	0.0333	0.0015	0.0014	0.0294	0.0280	0.0014	0.0044	0.0103	2.519e-05	1.872e-05	0.0333	0.0011	0.0035	0.0013	0.0018	0.0018	0.0020	0.0015	0.0043	0.0016	0.0015	0.0034	0.0031	0.0004	0	0.0043	0.0089	0	0	0.0680	0.0017	0.0061	0.0010	0.686	0.04353	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.386539	0.04452	N	1.295330	1	0.08975	N	-0.805	0.01590	N	3.6	0.04494	T	-0.26	0.11185	N	0.022	0.00372	-0.9222	0.45252	T	0.004	0.01470	T	10	0.003658086	0.00067	T	0.005928	0.15460	T	0.009	0.00846	.	.	0.204265027416	0.20035	0.17086664397383802	0.17006	0.114153396927	0.12873	0.218387007713	0.01219	T	0.085885	0.37601	T	-0.77272	0.00012	T	-0.877045	0.00679	T	0.00502727211406991	0.00054	T	0.260774	0.04184	T	0.0338362	0.03680	0.029485425	0.01292	0.0338362	0.03680	0.029485425	0.01292	-2.536	0.06032	T	.	.	0.052	0.00361	B	.;.;.	.;.;.	-1.957283	0.00111	0.002	0.38163772742654201	0.02558	0.05044	0.10831	N	AEFDGBHCI	0.047190	0.07918	N	-1.65382777947741	0.01019	0.04417788	-1.71530635961718	0.01071	0.04809935	0.99999999992978	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.658983	0.55881	0	0.725737	0.93299	0	.	.	5.8	-9.3	0.00551	-0.989000	0.03846	-6.376000	0.01416	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3884:0.2679:0.3437:0.0	9.114	0.35907	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030715	0.020202	0.020380	0.093567	0.000000	0.025862	0.012195	0.015152	0.08333	2822.83	34	chr7	17339293	.	A	G	2822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=345;ExcessHet=0;FS=1.221;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.106;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	5	0	1	0
chr7	18027551	18027551	T	G	exonic	PRPS1L1	.	nonsynonymous SNV	PRPS1L1:NM_175886:exon1:c.A232C:p.K78Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	.	0.0032	0.00199681	0.0013	0.0063	0.0015	0	0	0.0010	0.0033	6.056e-05	0.0011902	184	154602	rs199799262	0.0009	0.0009	0.0009	0.0008	0.0069	0.0008	0.0008	0.0062	0.0059	0.0069	0.0024	0.0069	0	0	0.0066	0.0005	0.0021	0.0006	0.0023	0.0023	0.0021	0.0024	0.0057	0.0021	0.0020	0.0051	0.0048	0.0057	0	0.0024	0.0049	0	0	0.0102	0.0007	0.0024	0.0004	0.005	0.63226	D	0.001	0.83351	D	0.994	0.66517	D	0.907	0.64423	P	.	.	.	.	.	.	.	4.25	0.98048	H	-3.18	0.93111	D	-3.15	0.64132	D	.	.	0.939	0.96230	D	0.866	0.95546	D	8	0.015219003	0.00319	T	.	.	.	0.845	0.95175	.	.	0.963857122909	0.96346	0.7712705126099573	0.77077	.	.	0.673428893089	0.63326	T	0.131451	0.94784	T	-0.142225	0.29536	T	0.0263744	0.72042	D	0.0725472100591262	0.09003	T	0.986151	0.95294	D	0.30113104	0.53006	0.28460884	0.54460	0.30113104	0.53006	0.28460884	0.54459	-11.04	0.79877	D	.	.	0.314	0.54079	B	.;.	.;.	4.287707	0.65363	24.8	0.99463156838672273	0.65892	0.95950	0.66859	D	AEFGI	0.668350	0.63616	D	0.795698620164982	0.85834	8.696626	0.7061879162773	0.82848	7.870102	0.999065487716934	0.38343	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.67	4.67	0.58089	5.687000	0.67883	4.906000	0.45906	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.398	0.54726	807	0.43470	Ribose-phosphate pyrophosphokinase, N-terminal domain;Ribose-phosphate pyrophosphokinase, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.020202	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2687.83	34	chr7	18027551	.	T	G	2687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.752;DP=414;ExcessHet=0;FS=6.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.762;SOR=0.81	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	5	0	1	0
chr7	19772542	19772542	C	A	exonic	TMEM196	.	nonsynonymous SNV	TMEM196:NM_001366625:exon1:c.G155T:p.S52I,TMEM196:NM_001366626:exon1:c.G155T:p.S52I	.	.	.	.	.	.	.	.	0.9910	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	62.83	21	chr7	19772542	.	C	A	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=0.159;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,3:20:73:0|1:19772542_C_A:73,0,692:19772542	5	0	1	0
chr7	19772544	19772544	C	A	exonic	TMEM196	.	nonsynonymous SNV	TMEM196:NM_001366625:exon1:c.G153T:p.W51C,TMEM196:NM_001366626:exon1:c.G153T:p.W51C	.	.	.	.	.	.	.	.	0.9596	0.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	62.83	21	chr7	19772544	.	C	A	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.748;DP=139;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=-0.053;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,3:20:73:0|1:19772542_C_A:73,0,692:19772542	5	0	1	0
chr7	21901198	21901198	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon82:c.G13495A:p.E4499K	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	YES	229591	Primary_ciliary_dyskinesia_7|not_provided|not_specified|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0020	0.00299521	0.0040	0.0004	0.0008	0.0020	0.0248	0.0035	0.0078	0.0032	0.0037128	574	154602	rs143362381	0.0036	0.0036	0.0036	0.0036	0.0043	0.0036	0.0035	0.0031	0.0030	0.0008	0.0012	0.0004	0.0017	0.0232	0.0043	0.0032	0.0027	0.0025	0.0040	0.0040	0.0028	0.0052	0.0031	0.0037	0.0036	0.0026	0.0025	0.0007	0	0.0024	0	0.0019	0.0290	0.0034	0.0030	0.0019	0.0031	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.009282	0.30429	N	0.412335	1	0.81001	D	.	.	.	3.21	0.07125	T	3.09	0.00129	N	0.156	0.16168	-0.9003	0.47962	T	0.007	0.02282	T	9	0.002060622	0.00029	T	.	.	.	0.032	0.07718	.	.	0.0846915920261	0.08053	0.16280028807902414	0.16200	.	.	0.277374863625	0.07129	T	0.013292	0.11527	T	-0.627998	0.00098	T	-0.674997	0.07292	T	0.00187411544808209	0.00019	T	0.517048	0.16713	T	0.024502672	0.01289	0.07466748	0.16358	0.03026252	0.02660	0.09242625	0.21782	-1.473	0.01710	T	0.0746207692164072	0.03251	0.067	0.02578	B	.;.;.	.;.;.	0.561602	0.09303	6.083	0.65798481415480237	0.07875	0.04817	0.10541	N	AEFGBI	0.043922	0.07004	N	-1.41959815687533	0.02467	0.108966	-1.33772817820881	0.03952	0.1854431	0.355524989978658	0.19726	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	0.464	0.15918	1.042000	0.29914	1.401000	0.26197	-0.550000	0.04901	0.199000	0.24297	0.109000	0.22772	0.312000	0.24784	0.6047:0.2858:0.1095:0.0	8.917	0.34747	829	0.39537	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002073	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2985.83	196	chr7	21901198	.	G	A	2985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.216;DP=413;ExcessHet=0;FS=1.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.891;SOR=0.591	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr7	27095361	27095361	G	T	exonic	HOXA1	.	nonsynonymous SNV	HOXA1:NM_005522:exon1:c.C552A:p.H184Q	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	1520	2	0	0	2	0.000657462	.	.	.	311028	Bosley-Salih-Alorainy_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0019075,MedGen:C1832216,Orphanet:69737|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0044979287642	.	.	4.118e-05	0	8.637e-05	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs768265195	2.805e-05	2.805e-05	2.45e-05	3.163e-05	0.0001	2.086e-05	1.878e-05	5.804e-05	3.952e-05	2.987e-05	0.0001	0.0003	0	0	0	1.978e-05	3.312e-05	1.159e-05	3.289e-05	3.284e-05	5.144e-05	1.346e-05	6.547e-05	1.262e-05	7.99e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0.0006	0	0	0	2.941e-05	0	0	0.465	0.08609	T	0.859	0.03418	T	.	.	.	.	.	.	0.002036	0.37411	N	0.318098	0.998554	0.81001	D	.	.	.	1.43	0.32958	T	-0.72	0.20358	N	0.27	0.30574	-1.0513	0.14036	T	0.040	0.17020	T	10	0.099491656	0.18059	T	0.004498	0.11063	T	0.075	0.21907	0.192	0.10304	0.627475323314	0.62443	0.7135965389314167	0.71302	1.13161604598	0.78638	0.688727557659	0.65524	T	.	.	.	-0.347264	0.04901	T	-0.467297	0.25807	T	0.0607257083807729	0.07282	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24867	B	.;.	.;.	4.810428	0.78248	26.9	0.88477973524149045	0.18008	0.71350	0.34975	D	AEFDBCI	.	.	.	-0.245041859940611	0.31302	1.753797	-0.0526498198919395	0.37376	2.187581	0.99999739151433	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.375	0.06713	1	.	.	5.01	4.05	0.46415	1.429000	0.34511	9.719000	0.81359	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1816:0.2144:0.604:0.0	4.187	0.09863	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2043.06	35	chr7	27095361	.	G	T	2043.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.14;DP=327;ExcessHet=0.4139;FS=1.186;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.28;SOR=0.57	GT:AD:DP:GQ:PL	0/1:50,32:82:99:807,0,1270	4	0	2	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	16570.7	120	chr7	27095695	.	C	*	16570.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=732;ExcessHet=0.4139;FS=0.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.26;ReadPosRankSum=0.473;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:123:99:.:.:4052,4052,4052:.	5	0	1	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1762.66	142	chr7	27095697	.	ATGGTGGTGG	A	1762.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.095;DP=403;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=0.616;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	4	0	1	1
chr7	27095700	27095700	G	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	10	1349	116	9	38	172	0.0473164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2188.04	121	chr7	27095700	.	G	*	2188.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=408;ExcessHet=0.4139;FS=1.063;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.436;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	5	0	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	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	0.033941	0.097938	0.036685	0.038012	0.000000	0.017241	0.003125	0.011450	0.08333	873.83	33	chr7	27156238	.	T	C	873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.119;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	5	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	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	.	.	.	.	.	.	.	.	0.2	203.05	47	chr7	30446188	.	C	G	203.05	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.613;DP=446;ExcessHet=0.4139;FS=205.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.06;SOR=7.475	GT:AD:DP:GQ:PL	0/0:66,0:66:43:0,43,1556	3	0	2	1
chr7	30497739	30497739	A	T	splicing	GGCT	NM_001199815:exon3:c.443+2T>A	.	.	.	428	1092	2	0	0	2	0.000914913	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0.0011	0	0.0008	9.06e-05	14	154602	rs200273357	0.0006	0.0005	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	0	9.41e-05	0.0004	0.0007	0.0006	0.0002	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	9.664e-05	0	0.0008	0	0	9.511e-05	0	0.0003	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.684104	0.00045	T	-0.862961	0.00812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785760	0.11562	8.154	0.34054803095131986	0.02062	0.05606	0.11511	N	AEFBI	.	.	.	-0.659124478389587	0.17195	0.8827393	-0.843580262278931	0.13442	0.697323	6.17210814516625E-5	0.04366	0.099367	0.02607	0	0.104858	0.03167	0	0.137589	0.03823	0	0.117559	0.03655	0	0.0971776	0.21760	3.76	-0.138	0.12807	-0.096000	0.11027	0.824000	0.21882	-0.059000	0.16651	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4875:0.2028:0.1138:0.1959	0.882	0.01157	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	694.83	35	chr7	30497739	.	A	T	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.961;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.668;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	5	0	1	0
chr7	30662718	30662718	A	C	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202482:exon6:c.T670G:p.C224G,CRHR2:NM_001202483:exon6:c.T673G:p.C225G,CRHR2:NM_001883:exon6:c.T673G:p.C225G,CRHR2:NM_001202475:exon7:c.T754G:p.C252G,CRHR2:NM_001202481:exon8:c.T631G:p.C211G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00531243363901	0.0006	.	0.0002	9.628e-05	8.646e-05	0	0	0.0003	0.0011	0.0002	0.0002458	38	154602	rs149017573	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0001	0.0002	0	0	0.0001	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	9.649e-05	0	0.0008	0	0	9.411e-05	0	0.0004	0.0010	0.0004	0.067	0.35918	T	0.158	0.34596	T	0.001	0.07471	B	0.03	0.21741	B	0.000000	0.84330	D	0.056838	0.838291	0.28666	N	0.49	0.13296	N	1.25	0.36512	T	0.46	0.03140	N	0.442	0.48596	-1.0586	0.12108	T	0.049	0.20711	T	10	0.17576763	0.32525	T	0.005312	0.13587	T	0.081	0.23632	.	.	0.351180957027	0.34734	0.7859060926168719	0.78541	0.323203872345	0.34483	0.644778549671	0.59244	T	0.040615	0.25586	T	-0.329681	0.06136	T	-0.395184	0.33945	T	0.160204082727432	0.17887	T	0.822218	0.48193	T	0.49975657	0.67081	0.30409682	0.56439	0.49975657	0.67082	0.30409682	0.56438	-4.431	0.29975	T	.	.	0.067	0.02399	B	.;.;.;.	.;.;.;.	2.757255	0.36155	20.2	0.95353405124997226	0.26743	0.96367	0.68792	D	AEFDBI	0.894214	0.83296	D	-0.240701049012686	0.31476	1.765347	-0.0303909247378931	0.38349	2.25811	0.919423608339084	0.26601	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	4.24	0.49486	5.285000	0.65438	2.279000	0.31884	0.756000	0.94297	1.000000	0.71638	0.882000	0.27718	0.985000	0.61073	0.9186:0.0:0.0814:0.0	9.887	0.40437	697	0.58201	.;.;GPCR, family 2-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	.	.	.	.	.	.	.	.	0.08333	724.83	38	chr7	30662718	.	A	C	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.579;DP=245;ExcessHet=0;FS=2.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.53;SOR=0.457	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1301	5	0	1	0
chr7	30912229	30912229	T	G	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.T320G:p.V107G,AQP1:NM_198098:exon1:c.T320G:p.V107G	.	.	.	.	.	.	.	.	.	.	.	1554024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.838	0.221141992638	0.0014	0.000998403	0.0026	0.0004	0.0011	0	0.0038	0.0037	0.0034	0.0010	0.0026196	405	154602	rs147400857	0.0034	0.0034	0.0035	0.0033	0.0040	0.0033	0.0033	0.0039	0.0039	0.0005	0.0012	7.652e-05	0	0.0033	0.0002	0.0040	0.0029	0.0008	0.0025	0.0025	0.0025	0.0026	0.0041	0.0023	0.0022	0.0037	0.0036	0.0006	0.0186	0.0022	0	0	0.0026	0	0.0041	0.0009	0	0.002	0.72154	D	0.171	0.30339	T	1.0	0.90584	D	0.998	0.88582	D	0.000008	0.62929	D	0.063541	1	0.81001	D	1.985	0.53793	M	-2.14	0.86415	D	-2.44	0.53420	N	0.493	0.52651	0.685	0.92987	D	0.771	0.92223	D	10	0.014616966	0.00307	T	0.221142	0.87792	D	0.838	0.94914	.	.	0.941745034481	0.94113	0.8985043637516297	0.89822	1.39981356533	0.85174	.	.	.	0.79807	0.94821	D	-0.104545	0.35671	T	0.0778673	0.75435	D	0.0370450760625683	0.03163	T	0.754824	0.37774	T	0.76711977	0.81875	0.63530046	0.78709	0.76711977	0.81877	0.63530046	0.78710	-6.002	0.46296	T	0.23759192098901724	0.32177	0.383	0.58605	A	.	.	4.180834	0.62939	24.5	0.99721805978410194	0.82125	0.95886	0.66577	D	AEFGBCI	0.929719	0.91592	D	0.687877103133838	0.78839	6.95292	0.618869419246626	0.76309	6.467618	0.999999999719802	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	5.134000	0.64611	6.201000	0.54892	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	12.026	0.52663	877	0.30165	.	.	.	.	.	.	Likely benign	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	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	777.83	35	chr7	30912229	.	T	G	777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=263;ExcessHet=0;FS=8.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.596;SOR=1.708	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	5	0	1	0
chr7	35638413	35638413	G	A	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon6:c.C554T:p.A185V	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00830089784445	0.0003	0.000599042	0.0009	0.0002	0.0007	0	0	0.0004	0.0011	0.0045	0.0007762	120	154602	rs143548194	0.0005	0.0005	0.0004	0.0007	0.0147	0.0005	0.0005	0.0122	0.0113	0.0001	0.0005	0.0002	0	0	0.0147	0.0002	0.0010	0.0042	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.406e-05	0	0.0002	0.0006	0	0	0.0136	0.0003	0.0005	0.0039	0.098	0.39334	T	0.589	0.11078	T	0.024	0.19075	B	0.014	0.16862	B	0.009620	0.30282	N	0.391146	0.590511	0.32452	D	1.545	0.39105	L	2.78	0.30669	T	-1.2	0.30762	N	0.137	0.13484	-1.0500	0.14397	T	0.051	0.21572	T	10	0.007558018	0.00172	T	0.008301	0.21979	T	0.048	0.13305	.	.	0.375384844437	0.37152	0.3521035654502703	0.35124	0.286700371962	0.31060	0.491807460785	0.37690	T	0.002	0.01317	T	-0.470251	0.00847	T	-0.44854	0.27859	T	0.0213379543456771	0.00837	T	0.844016	0.66491	T	0.06061559	0.12459	0.066769175	0.13724	0.06061559	0.12458	0.066769175	0.13724	-3.477	0.16111	T	.	.	0.088	0.18746	B	.;.;.;.	.;.;.;.	1.776554	0.22588	15.68	0.93043355323146437	0.22648	0.87186	0.46650	D	AEFBI	0.112113	0.22172	N	-0.568905067551693	0.19894	1.044783	-0.487702264382553	0.22491	1.221877	0.169259988860167	0.17711	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.04	4.15	0.47978	3.054000	0.49600	7.572000	0.60737	0.676000	0.76740	0.275000	0.25094	1.000000	0.68203	0.031000	0.13245	0.0:0.1371:0.8629:0.0	15.752	0.77765	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.001359	0.008772	0.000000	0.025862	0.003067	0.007576	0.08333	513.83	40	chr7	35638413	.	G	A	513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.019;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.064;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1147	5	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	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	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.08333	2405.83	35	chr7	36618320	.	G	A	2405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.246;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.84;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1361:.	5	0	1	0
chr7	36870425	36870425	T	C	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001039459:exon5:c.A433G:p.M145V,ELMO1:NM_130442:exon5:c.A433G:p.M145V,ELMO1:NM_001206480:exon20:c.A1873G:p.M625V,ELMO1:NM_001206482:exon20:c.A1873G:p.M625V,ELMO1:NM_014800:exon20:c.A1873G:p.M625V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0107805417457	.	.	8.246e-06	9.617e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776767360	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.252	0.23570	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.725	0.44537	L	0.93	0.44065	T	-1.85	0.43334	N	0.697	0.70175	-1.0613	0.11434	T	0.074	0.29960	T	10	0.46944326	0.59771	T	0.010781	0.27705	T	0.241	0.54641	0.424	0.46857	0.706560917885	0.70400	0.5539153075321251	0.55317	0.771881204982	0.64809	0.86879324913	0.92395	D	0.199479	0.55677	T	-0.082046	0.39383	T	-0.174102	0.57067	T	0.390660228325564	0.28589	T	0.874613	0.58533	D	0.32792452	0.55301	0.29452005	0.55483	0.32792452	0.55301	0.29452005	0.55482	-8.394	0.66348	D	.	.	0.120	0.46144	B	.;.;.;.;.	.;.;.;.;.	4.041693	0.59845	24.1	0.96035681880669921	0.28518	0.98789	0.86875	D	AEFBI	0.864646	0.78351	D	-0.0952207724873101	0.37601	2.189988	0.131533391871464	0.46171	2.867472	0.999999997378186	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	7.674000	0.83146	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.744	0.77688	851	0.35303	.;Pleckstrin homology domain;.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2756.06	35	chr7	36870425	.	T	C	2756.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.73;DP=365;ExcessHet=0.4139;FS=0.487;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.323;SOR=0.656	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1341,0,1244	4	0	2	0
chr7	37740710	37740710	A	C	exonic	GPR141	.	nonsynonymous SNV	GPR141:NM_001381946:exon3:c.A317C:p.Y106S,GPR141:NM_001329993:exon4:c.A317C:p.Y106S,GPR141:NM_001329994:exon4:c.A317C:p.Y106S,GPR141:NM_181791:exon4:c.A317C:p.Y106S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.239596203991	.	.	2.473e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs776331619	2.736e-06	2.736e-06	2.723e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	-0.58	0.71425	T	-5.71	0.87457	D	0.885	0.88577	0.140	0.84880	D	0.523	0.82221	D	10	0.8610076	0.85320	D	0.239596	0.88637	D	0.826	0.94466	0.531	0.63855	0.902956240734	0.90199	0.7880582711959011	0.78757	0.305313771181	0.32837	0.584404110909	0.50706	T	0.315959	0.68753	T	0.292588	0.82367	D	0.290163	0.87685	D	0.915132947507215	0.57204	D	0.823318	0.48387	T	0.9000458	0.91387	0.80819637	0.88786	0.9000458	0.91388	0.80819637	0.88786	-9.16	0.68721	D	.	.	0.549	0.67698	A	.;.	.;.	4.916613	0.80938	27.4	0.991784471097095	0.54614	0.97905	0.78016	D	AEFHCI	0.934335	0.92756	D	0.803708787921925	0.86338	8.853154	0.757412302737207	0.86709	8.977163	0.999953592258601	0.48110	0.632932	0.41330	0	0.588015	0.36545	0	0.601832	0.32385	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	8.947000	0.92735	10.853000	0.83948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.124	0.64739	936	0.14734	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1623.83	33	chr7	37740710	.	A	C	1623.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=296;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.254;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1426	5	0	1	0
chr7	37741076	37741076	T	C	exonic	GPR141	.	nonsynonymous SNV	GPR141:NM_001381946:exon3:c.T683C:p.L228P,GPR141:NM_001329993:exon4:c.T683C:p.L228P,GPR141:NM_001329994:exon4:c.T683C:p.L228P,GPR141:NM_181791:exon4:c.T683C:p.L228P	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.0654444155295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	0.995	0.83170	D	0.000210	0.47681	D	0.080969	1	0.81001	D	2.72	0.79541	M	0.96	0.42888	T	-3.35	0.66436	D	0.957	0.96644	-0.6419	0.63065	T	0.234	0.60087	T	10	0.91858447	0.91216	D	0.065444	0.69580	D	0.525	0.79886	0.688	0.82558	0.708074060055	0.70552	0.8589809990846944	0.85861	0.318980945097	0.34112	0.586587309837	0.51013	T	0.436589	0.78292	T	0.241501	0.77803	D	0.109123	0.77514	D	0.987975656986237	0.78375	D	0.741926	0.36121	T	0.8329009	0.86105	0.8531857	0.91718	0.8329009	0.86107	0.8531857	0.91718	-8.36	0.63498	D	.	.	0.921	0.84278	P	.;.	.;.	5.086497	0.84911	28.4	0.99904678924521639	0.97576	0.98650	0.85139	D	AEFI	0.951380	0.96589	D	0.720922135458119	0.81003	7.421696	0.683013475853444	0.81088	7.446003	0.999977436837317	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	7.462000	0.79890	7.648000	0.63548	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.999000	0.91618	0.0:0.0:0.0:1.0	14.496	0.67272	937	0.14592	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	.	.	.	.	.	.	.	.	0.1667	2404.06	33	chr7	37741076	.	T	C	2404.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.07;SOR=0.661	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1322,0,1284	4	0	2	0
chr7	37850628	37850628	G	A	splicing	NME8	NM_016616:exon5:c.92-1G>A	.	.	Ciliary dyskinesia, primary, 6, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400809471	1.382e-06	2.052e-06	2.754e-06	0	5.046e-05	2.3e-07	9e-08	8.36e-06	3.13e-06	0	0	0	5.046e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500301	0.94294	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.763939	0.93445	33	0.99490553319530195	0.67403	0.96163	0.67822	D	AEFBI	.	.	.	1.10831221323337	0.98285	17.87328	0.947137568967406	0.97317	15.92928	0.998414618167551	0.36924	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.987656	0.96192	5.01	5.01	0.66477	7.303000	0.78192	11.692000	0.94371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.435	0.87443	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	579.83	38	chr7	37850628	.	G	A	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.075;DP=225;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.48;SOR=0.91	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	0	1	0
chr7	39339680	39339680	-	A	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.637_638insA:p.L213Hfs*94,POU6F2:NM_001166018:exon6:c.550_551insA:p.L184Hfs*94,POU6F2:NM_007252:exon6:c.550_551insA:p.L184Hfs*94	.	1	1503	15	0	3	18	0.00496524	.	.	.	4008052	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0018	0.0002	0.0038	0.0033	0.0004398	68	154602	rs766603583	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0008	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1174.79	35	chr7	39339680	.	C	CA	1174.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=275;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=2.32;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1285:.	5	0	1	0
chr7	39339681	39339681	T	G	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T638G:p.L213R,POU6F2:NM_001166018:exon6:c.T551G:p.L184R,POU6F2:NM_007252:exon6:c.T551G:p.L184R	.	1	1503	14	1	3	19	0.00529451	.	.	.	722503	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0745331248071	.	.	0.0006	0	0	0	0.0018	0.0002	0.0039	0.0032	0.0004269	66	154602	rs566759150	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	0.05	0.51248	D	0.384	0.17750	T	0.995	0.77913	D	0.979	0.84481	D	0.003268	0.00950	U	5.088810	0.957031	0.38004	D	0.345	0.11182	N	0.93	0.86349	T	0.27	0.06868	N	0.711	0.75101	-0.2995	0.74999	T	0.576	0.84685	D	10	0.008406937	0.00191	T	0.074533	0.72064	D	0.297	0.61730	.	.	0.902403036094	0.90142	0.13895129386167432	0.13818	0.188262878971	0.21156	0.73977124691	0.72940	T	0.052548	0.29192	T	0.0947825	0.63724	D	-0.101628	0.63272	T	0.0788612767488848	0.09841	T	0.480052	0.14930	T	0.313356	0.54075	0.32990277	0.58865	0.4213184	0.62180	0.32705986	0.58606	-7.142	0.57933	T	.	.	0.136	0.39064	B	.;.;.;.;.	.;.;.;.;.	2.936691	0.39031	20.9	0.98927095159951717	0.48676	0.99051	0.90508	D	AEFDBI	0.822586	0.74288	D	0.268068562511938	0.54539	3.619105	0.319795148205281	0.56704	3.834135	0.743475314039906	0.23249	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	6.366000	0.73033	4.896000	0.45813	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.541	0.61136	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	982.04	35	chr7	39339681	.	T	G	982.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.48;DP=274;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=2.48;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1285:.	5	0	1	0
chr7	39339682	39339682	-	AG	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.639_640insAG:p.Q214Sfs*118,POU6F2:NM_001166018:exon6:c.552_553insAG:p.Q185Sfs*118,POU6F2:NM_007252:exon6:c.552_553insAG:p.Q185Sfs*118	.	1	1503	2	0	16	18	0.000664894	.	.	.	4008053	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0005	0.0001	0.0013	0.0031	3.84e-05	1	26028	rs754399260	0.0009	0.0013	0.0007	0.0011	0.0064	0.0009	0.0008	0.0059	0.0058	0.0001	0.0006	0.0007	0	0.0005	0.0026	0.0006	0.0008	0.0064	0.0010	0.0011	0.0009	0.0012	0.0073	0.0009	0.0009	0.0054	0.0047	0.0002	0	0.0009	0.0009	0	0.0005	0	0.0014	0.0009	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	983.01	35	chr7	39339682	.	C	CAG	983.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=271;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=2.52;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1285:.	5	0	1	0
chr7	39339687	39339687	T	A	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T644A:p.L215H,POU6F2:NM_001166018:exon6:c.T557A:p.L186H,POU6F2:NM_007252:exon6:c.T557A:p.L186H	.	2	1502	14	1	3	19	0.00529801	.	.	.	722504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.173	0.128482008254	.	0.00219649	0.0008	0	0	0	0.0019	0.0003	0.0040	0.0045	0.0006662	103	154602	rs558679060	0.0012	0.0014	0.0010	0.0014	0.0072	0.0011	0.0011	0.0068	0.0066	0.0001	0.0006	0.0007	0	0.0021	0.0035	0.0008	0.0010	0.0072	0.0013	0.0014	0.0011	0.0015	0.0078	0.0012	0.0011	0.0058	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0015	0.0014	0.0078	0.013	0.68238	D	0.091	0.41405	T	0.0	0.02946	B	0.0	0.04355	B	0.526992	0.11679	U	0.674572	0.687166	0.33290	D	0	0.06538	N	0.99	0.86283	T	0.44	0.04091	N	0.472	0.55799	-0.6724	0.61720	T	0.344	0.70899	T	10	0.0053934455	0.00118	T	0.128482	0.81043	D	0.173	0.43840	.	.	0.795581171059	0.79368	0.2851193258759142	0.28424	0.164144482972	0.18523	0.573362588882	0.49153	T	0.081322	0.36571	T	0.0179733	0.54108	T	-0.211959	0.53507	T	0.0254729737496765	0.01335	T	0.329867	0.07558	T	0.11896534	0.28020	0.18976596	0.42341	0.14952165	0.34083	0.16491888	0.38178	-5.183	0.39235	T	.	.	0.233	0.48572	B	.;.;.;.;.	.;.;.;.;.	2.685035	0.35034	19.79	0.95294137525612943	0.26605	0.86589	0.45901	D	AEFDBI	0.091232	0.18482	N	-0.65631439813835	0.17276	0.8876356	-0.530111321139244	0.21337	1.15378	2.95067598432571E-4	0.06406	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.39	1.85	0.24418	2.459000	0.44680	2.056000	0.30370	0.665000	0.62972	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.6554:0.0:0.0:0.3446	8.716	0.33575	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005699	0.010101	0.002717	0.006993	0.000000	0.025862	0.000000	0.007576	0.08333	764.83	35	chr7	39339687	.	T	A	764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=272;ExcessHet=0;FS=3.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=2.54;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1285:.	5	0	1	0
chr7	39339864	39339864	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C821T:p.A274V,POU6F2:NM_001166018:exon6:c.C734T:p.A245V,POU6F2:NM_007252:exon6:c.C734T:p.A245V	.	13	1506	3	0	0	3	0.000995025	.	.	.	722506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0045	0.00279553	0.0017	0.0161	0.0009	0	0	4.266e-05	0.0044	0.0010	0.0011061	171	154602	rs150071017	0.0004	0.0004	0.0005	0.0004	0.0139	0.0004	0.0004	0.0128	0.0124	0.0139	0.0004	3.836e-05	7.58e-05	0	0.0003	3.332e-05	0.0011	0.0006	0.0038	0.0038	0.0037	0.0038	0.0131	0.0035	0.0034	0.0122	0.0119	0.0131	0	0.0010	0	0	0	0	0	0.0024	0.0012	0.005	0.68238	D	0.275	0.24694	T	0.033	0.34646	B	0.001	0.16460	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.96	0.84701	T	-1.04	0.35194	N	0.187	0.20395	-0.8128	0.54380	T	0.220	0.58253	T	9	0.0039544106	0.00076	T	.	.	.	0.048	0.13305	.	.	0.785934030397	0.78395	0.09546483204171588	0.09478	0.126190377115	0.14226	0.429263263941	0.29107	T	0.161925	0.50638	T	-0.370826	0.03552	T	-0.293119	0.45447	T	0.00636298075322351	0.00071	T	0.644436	0.27951	T	0.062655225	0.13108	0.07989306	0.18026	0.058223747	0.11686	0.07089363	0.15117	-5.251	0.39576	T	0.12060954091623115	0.11359	0.080	0.08851	B	.;.;.;.;.	.;.;.;.;.	2.366967	0.30367	18.41	0.95941530518409068	0.28244	0.06768	0.12791	N	AEFDBI	0.074188	0.14864	N	-0.810642088931036	0.13038	0.639533	-0.845464463485598	0.13396	0.6947374	1.71354138382234E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	2.03	2.03	0.25714	0.690000	0.25132	0.000000	0.13247	0.530000	0.24713	0.053000	0.21524	0.136000	0.23046	0.331000	0.25224	0.3125:0.6874:0.0:0.0	5.866	0.18022	871	0.31377	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002075	0.000000	0.004076	0.003497	0.000000	0.000000	0.000000	0.000000	0.08333	836.83	35	chr7	39339864	.	C	T	836.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.11;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	5	0	1	0
chr7	39339990	39339990	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C947T:p.P316L,POU6F2:NM_001166018:exon6:c.C860T:p.P287L,POU6F2:NM_007252:exon6:c.C860T:p.P287L	.	13	1488	21	0	0	21	0.00700701	.	.	.	750624	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.360	0.186887782839	0.0004	0.00119808	0.0009	0	0.0005	0	0	0.0004	0	0.0050	0.0007956	123	154602	rs140579551	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0043	2.99e-05	0.0003	0.0048	2.521e-05	0	0.0042	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0004	0.0037	0.0002	0	0	0.0002	0.0005	0.0048	0.002	0.91255	D	0.018	0.66756	D	1.0	0.90584	D	0.995	0.88582	D	0.000000	0.00162	N	38.749600	0.999991	0.58761	D	0.895	0.22405	L	0.91	0.87910	T	-2.36	0.68178	N	0.572	0.68603	-0.0577	0.81042	T	0.789	0.92843	D	10	0.0104005635	0.00232	T	0.186888	0.85904	D	0.360	0.68052	.	.	0.944785693014	0.94420	0.4494868403030696	0.44866	0.12945880337	0.14595	0.710781097412	0.68706	T	0.381144	0.74352	T	-0.198564	0.21012	T	-0.056634	0.66565	D	0.0583975139153932	0.06913	T	0.934007	0.75281	D	0.27540636	0.50604	0.3132593	0.57324	0.2842961	0.51457	0.3352743	0.59343	-4.889	0.35611	T	0.1709959771602053	0.21531	0.102	0.32969	B	.;.;.;.;.	.;.;.;.;.	4.519271	0.70844	25.6	0.99677032777020813	0.78977	0.96149	0.67757	D	AEFDBI	0.698710	0.65630	D	0.538923182564204	0.69409	5.352951	0.496279600837992	0.67743	5.125052	0.985010285847895	0.30813	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	4.676000	0.61317	4.718000	0.44490	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.622	0.84784	871	0.31377	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002591	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.1667	1378.06	35	chr7	39339990	.	C	T	1378.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.51;DP=277;ExcessHet=0.4139;FS=5.703;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.323;SOR=1.226	GT:AD:DP:GQ:PL	0/1:31,17:48:99:405,0,726	4	0	2	0
chr7	42023572	42023572	C	G	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon10:c.G1393C:p.G465R	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	0	1477	44	1	0	46	0.0153333	.	.	.	252866	Pallister-Hall_syndrome|Greig_cephalopolysyndactyly_syndrome|not_provided|Polydactyly|not_specified	MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0299272507372	0.0038	0.000998403	0.0044	0.0004	0.0029	0	0.0029	0.0068	0.0055	0.0012	0.004062	628	154602	rs35488756	0.0040	0.0040	0.0038	0.0042	0.0229	0.0039	0.0039	0.0197	0.0185	0.0008	0.0028	0.0083	2.519e-05	0.0025	0.0229	0.0043	0.0044	0.0014	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0046	0.0044	0.0004	0	0.0031	0.0072	0.0002	0.0027	0.0377	0.0050	0.0086	0.0021	0.386	0.10980	T	0.079	0.42086	T	0.017	0.17573	B	0.01	0.14941	B	0.000000	0.84330	D	0.043845	1	0.81001	D	1.905	0.50856	L	-0.39	0.69158	T	-1.97	0.45587	N	0.822	0.81758	-0.7588	0.57471	T	0.218	0.58007	T	10	0.00919497	0.00208	T	0.029927	0.52343	D	0.226	0.52472	0.269	0.21735	0.735286814614	0.73292	0.3599121688930344	0.35905	0.631794354057	0.57122	0.860202550888	0.91141	D	0.364331	0.72993	T	-0.169071	0.25376	T	-0.0131616	0.69478	D	0.0198023934957371	0.00682	T	0.944506	0.78979	D	0.23039405	0.45793	0.28803176	0.54817	0.24898969	0.47890	0.29560518	0.55591	-9.105	0.68369	D	0.7767274389200907	0.85711	0.816	0.78032	P	.;.	.;.	4.526654	0.71028	25.6	0.99819326486150983	0.90238	0.98718	0.85968	D	AEFDBI	0.803880	0.72890	D	0.164509815850464	0.49502	3.149775	0.343521531659773	0.58118	3.980624	1.0	0.98316	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	6.058000	0.70754	5.965000	0.51894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.091	0.97819	894	0.26265	.;.	.	.	.	.	.	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	0.018127	0.010101	0.021739	0.014620	0.000000	0.034483	0.015244	0.015152	0.08333	1011.83	33	chr7	42023572	.	C	G	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.302;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.561;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1341	5	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	90.2	105	chr7	43624718	.	C	G	90.2	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.563;DP=532;ExcessHet=0.4139;FS=295.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.16;SOR=8.567	GT:AD:DP:GQ:PL	0/0:69,14:104:94:0,94,1468	4	0	2	0
chr7	44052885	44052885	G	C	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001014436:exon4:c.G271C:p.D91H,DBNL:NM_001122956:exon4:c.G271C:p.D91H,DBNL:NM_001362723:exon4:c.G271C:p.D91H,DBNL:NM_014063:exon4:c.G271C:p.D91H	.	426	1070	25	1	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	.	0.0013	0.00499201	0.0035	0	0.0012	0.0004	0	0.0012	0.0058	0.0189	0.0030465	471	154602	rs139647339	0.0022	0.0022	0.0017	0.0028	0.0193	0.0022	0.0022	0.0185	0.0182	0.0002	0.0011	0.0002	0	1.882e-05	0.0085	0.0012	0.0022	0.0193	0.0015	0.0015	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0001	0	0.0018	0	0.0004	0	0	0.0011	0.0024	0.0215	0.213	0.20306	T	0.579	0.19362	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	1.33	0.35031	T	-4.01	0.76254	D	0.855	0.87481	-0.1876	0.77989	T	0.396	0.74858	T	10	0.0092229545	0.00208	T	.	.	.	0.377	0.69527	.	.	0.804634121527	0.80281	0.8291163487985999	0.82869	2.22236575028	0.95846	0.762620568275	0.76320	T	0.529261	0.83680	D	-0.118421	0.33381	T	0.0720562	0.75047	D	0.122179954687555	0.14641	T	0.956971	0.90895	D	0.4046013	0.61050	0.34679255	0.60343	0.4046013	0.61050	0.34679255	0.60342	-11.653	0.83908	D	.	.	0.858	0.80211	P	.;.;.;.	.;.;.;.	4.455114	0.69291	25.4	0.99383301760627984	0.61979	0.95755	0.66016	D	AEFDGBHCI	0.962461	0.98406	D	0.410057472336601	0.61974	4.406109	0.398860132209106	0.61493	4.35035	0.999999982135241	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.775000	0.84243	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:0.8542:0.1458	14.682	0.68635	698	0.58074	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	832.83	58	chr7	44052885	.	G	C	832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.157;DP=238;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=2.28;SOR=0.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr7	44201164	44201164	A	G	exonic	YKT6	.	nonsynonymous SNV	YKT6:NM_001363678:exon1:c.A29G:p.Y10C,YKT6:NM_006555:exon1:c.A29G:p.Y10C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0435934262408	0.0008	0.000798722	0.0005	0.0003	0.0005	0	0	0.0007	0.0015	0	0.0003299	51	154602	rs150272603	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0001	0.0002	0	0	3.756e-05	0	0.0009	0.0006	1.165e-05	0.0006	0.0006	0.0007	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0004	0	0.0007	0	0	0	0.0034	0.0009	0	0	0.138	0.25873	T	0.14	0.36765	T	0.999	0.77913	D	0.96	0.70309	D	0.000156	0.49130	D	0.185391	1	0.81001	D	2.915	0.84231	M	2.26	0.17596	T	-7.06	0.93879	D	0.759	0.79792	-0.9515	0.40712	T	0.118	0.41560	T	10	0.24128762	0.41303	T	0.043593	0.61064	D	0.256	0.56694	.	.	0.123314135267	0.11883	0.5828313263381804	0.58212	0.863382039472	0.69074	0.730811953545	0.71625	T	0.29553	0.66819	T	-0.274862	0.11221	T	-0.223944	0.52357	T	0.380399743830588	0.28198	T	0.954005	0.83363	D	0.6506685	0.75400	0.3051741	0.56545	0.6506685	0.75401	0.3051741	0.56544	-3.869	0.43756	T	.	.	0.154	0.34071	B	.;.	.;.	5.139185	0.86031	28.8	0.99759527961071592	0.84931	0.99550	0.97340	D	AEFDGBHCI	0.933487	0.92547	D	0.681731789145554	0.78438	6.87119	0.589490893212476	0.74183	6.094233	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.8	3.8	0.42887	8.380000	0.90038	7.776000	0.68567	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	11.962	0.52299	794	0.45591	.;Longin 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	.	.	.	.	.	.	.	.	0.1667	1408.06	34	chr7	44201164	.	A	G	1408.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.121;DP=254;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=2.2;SOR=0.685	GT:AD:DP:GQ:PL	0/1:24,34:58:99:868,0,597	4	0	2	0
chr7	45920722	45920722	-	GA	exonic	IGFBP3	.	frameshift insertion	IGFBP3:NM_001013398:exon1:c.418_419insTC:p.P140Lfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	658.8	34	chr7	45920722	.	G	GGA	658.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.56;DP=107;ExcessHet=0;FS=3.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.656;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,370:.	5	0	1	0
chr7	45920724	45920724	-	GGGCGGCTCACCTGGA	exonic	IGFBP3	.	frameshift insertion	IGFBP3:NM_001013398:exon1:c.416_417insTCCAGGTGAGCCGCCC:p.N142Efs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0001	2.19e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	779.05	34	chr7	45920724	.	C	CGGGCGGCTCACCTGGA	779.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=108;ExcessHet=0.4139;FS=1.213;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.13;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,370:.	5	0	1	0
chr7	47344757	47344757	C	T	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon20:c.G2648A:p.R883H	.	427	1084	11	0	0	11	0.00504819	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.117891833213	0.0002	0.000399361	0.0004	0.0002	8.664e-05	0	0	0.0004	0	0.0016	0.0003752	58	154602	rs200980382	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0022	0.0001	0.0002	0	0	0	0.0041	0.0002	0.0004	0.0013	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.404e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0017	0.805	0.03642	T	0.228	0.25286	T	0.0	0.02946	B	0.0	0.01387	B	0.680532	0.06089	N	1.215580	1	0.08975	N	-0.695	0.01866	N	-2.92	0.92158	D	0.57	0.02721	N	0.095	0.07535	-0.5212	0.67870	T	0.408	0.75734	T	10	0.0065677464	0.00149	T	0.117892	0.79779	D	0.241	0.54641	.	.	0.200294437569	0.19612	0.14802012598127917	0.14724	.	.	0.289016723633	0.08780	T	0.037265	0.24412	T	-0.381049	0.03069	T	-0.355505	0.38573	T	0.00855496471707305	0.00104	T	0.711029	0.32195	T	0.020555025	0.00618	0.022777382	0.00297	0.020555025	0.00618	0.022777382	0.00297	-4.733	0.33801	T	.	.	0.066	0.05360	B	.;.	.;.	0.397629	0.07692	4.364	0.43730734630115159	0.03312	0.00361	0.01848	N	AEFDBI	0.035843	0.04681	N	-1.39174202705502	0.02715	0.1202698	-1.40676126905753	0.03184	0.1480013	0.999990671226792	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	-5.53	0.02351	-0.339000	0.07878	-2.318000	0.03907	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2359:0.1073:0.3856:0.2713	1.630	0.02566	855	0.34697	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002528	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.003817	0.08333	1012.83	37	chr7	47344757	.	C	T	1012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=279;ExcessHet=0;FS=3.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.901;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	5	0	1	0
chr7	47369283	47369283	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1363T:p.R455C	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.27006216484	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.000401	62	154602	rs148721285	0.0003	0.0003	0.0003	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	0.0002	0.0005	0	2.519e-05	0	0.0040	0.0002	0.0006	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.623e-05	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0017	0.0	0.91255	D	0.007	0.92824	D	0.999	0.77913	D	0.732	0.55359	P	0.009228	0.30456	N	0.254913	0.997792	0.81001	D	2.6	0.76081	M	2.02	0.95422	T	-5.16	0.85468	D	0.393	0.43417	0.816	0.94611	D	0.861	0.95387	D	10	0.05390227	0.06305	T	0.270062	0.89844	D	0.262	0.57482	.	.	0.763170643102	0.76101	0.17440321087642913	0.17359	.	.	0.419878840446	0.27818	T	0.35614	0.72304	T	0.0249762	0.55051	T	0.227722	0.84558	D	0.118032040293728	0.14236	T	0.922608	0.74183	D	0.27323943	0.50392	0.2262455	0.47596	0.27323943	0.50392	0.2262455	0.47595	-9.944	0.73576	D	.	.	0.107	0.19998	B	.;.;.	.;.;.	4.089820	0.60902	24.3	0.99911027498506333	0.98022	0.95738	0.65944	D	AEFGBI	0.761565	0.69924	D	0.434415363766789	0.63326	4.564066	0.383335588669547	0.60537	4.242372	0.999999944380405	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.29	5.29	0.74430	3.142000	0.50296	8.609000	0.77761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.1724:0.8276:0.0	12.193	0.53588	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.005435	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	2181.83	86	chr7	47369283	.	G	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=543;ExcessHet=0;FS=0.572;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.709;SOR=0.644	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chr7	47659097	47659097	C	A	exonic	C7orf65	.	nonsynonymous SNV	C7orf65:NM_001123065:exon3:c.C325A:p.L109I	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275649940293	.	0.00139776	0.0007	0	0.0002	0	0	9.048e-05	0	0.0045	0.0005886	91	154602	rs577917764	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0	8.045e-05	0	0	0	0.0020	2.726e-05	0.0004	0.0044	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0047	0.0040	0	0	0.0001	0	0	0	0	5.88e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1803.83	133	chr7	47659097	.	C	A	1803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.189;DP=319;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.363;SOR=0.635	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr7	47813287	47813287	T	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon49:c.A7180G:p.R2394G	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	414	1080	28	0	0	28	0.0127971	.	.	.	711018	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00175661637455	0.0012	0.00199681	0.0023	0.0002	0.0010	0	0.0002	0.0020	0.0057	0.0075	0.0020246	313	154602	rs138441246	0.0016	0.0016	0.0013	0.0019	0.0179	0.0015	0.0015	0.0151	0.0140	0.0004	0.0010	0.0114	0	0.0001	0.0179	0.0010	0.0027	0.0068	0.0014	0.0014	0.0013	0.0015	0.0068	0.0013	0.0012	0.0050	0.0044	0.0002	0	0.0014	0.0107	0	0.0002	0.0034	0.0014	0.0080	0.0068	0.35	0.12305	T	0.243	0.24193	T	0.001	0.07471	B	0.001	0.04355	B	0.762761	0.06550	N	1.118960	1	0.08975	N	0.425	0.12573	N	2.18	0.18875	T	0.64	0.02368	N	0.08	0.05542	-0.9816	0.34632	T	0.026	0.10954	T	10	0.0033038855	0.00057	T	0.001757	0.02986	T	0.009	0.00846	.	.	0.36453787251	0.36064	0.43316799921163585	0.43233	0.120409947034	0.13557	0.19317252934	0.00286	T	0.014141	0.12098	T	-0.72205	0.00027	T	-0.806922	0.01735	T	0.00208919443613553	0.00022	T	0.354665	0.08016	T	0.06999847	0.15382	0.04193365	0.04881	0.06999847	0.15382	0.04193365	0.04880	-2.486	0.05687	T	0.1867311497326399	0.24318	0.085	0.09965	B	.	.	-1.021441	0.00741	0.023	0.74024587281582088	0.10542	0.00768	0.03170	N	AEFBI	0.061139	0.11667	N	-1.11025166153776	0.06460	0.2974381	-1.18236057520871	0.06204	0.2979059	0.993548330117776	0.33257	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.76	-1.87	0.07317	-1.721000	0.01969	-5.038000	0.01875	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1683:0.3889:0.0:0.4428	4.165	0.09768	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.000000	0.005435	0.011696	0.000000	0.000000	0.009146	0.011364	0.08333	1120.83	84	chr7	47813287	.	T	C	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=282;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.453;SOR=1.052	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	5	0	1	0
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	119.69	98	chr7	47829595	.	G	A	119.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.506;DP=503;ExcessHet=0;FS=148.918;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=1.57;SOR=6.803	GT:AD:DP:GQ:PL	0/1:88,29:119:99:129,0,2251	4	0	1	1
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	219.81	89	chr7	47829596	.	G	C	219.81	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.184;DP=630;ExcessHet=0.4139;FS=206.453;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=1.45;SOR=8.238	GT:AD:DP:GQ:PL	0/1:88,31:119:99:148,0,2250	2	0	2	2
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	430	1070	20	2	0	24	0.0110906	.	.	.	700117	PKD1L1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011399	0.015152	0.012228	0.010490	0.000000	0.008621	0.012195	0.000000	0.08333	330.83	33	chr7	47915452	.	A	G	330.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-1.404;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1158	5	0	1	0
chr7	47929528	47929528	T	G	splicing	PKD1L1	NM_138295:exon7:c.738-2A>C	.	.	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	0.9999	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998781	0.21910	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.081078	0.41449	21.4	0.9327198868132992	0.22971	0.03933	0.09325	N	AEFDGBI	.	.	.	0.319334872994312	0.57142	3.880448	-0.0287323048596155	0.38423	2.263487	0.999996328258073	0.74766	0.095506	0.02484	0	0.166317	0.03975	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0951774	0.21360	3.98	2.76	0.31527	1.474000	0.35006	1.554000	0.27312	0.609000	0.47794	0.124000	0.23245	0.999000	0.35428	0.151000	0.20341	0.0:0.0:0.2237:0.7763	7.356	0.25890	830	0.39242	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	522.83	37	chr7	47929528	.	T	G	522.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.938;DP=238;ExcessHet=0;FS=3.278;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.26;SOR=1.519	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	5	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	96.68	73	chr7	48103309	.	A	G	96.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.448;DP=404;ExcessHet=0;FS=39.991;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=-0.47;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:59,0:59:0:.:.:0,0,1217:.	3	0	1	2
chr7	48644645	48644645	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon61:c.A14972G:p.H4991R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0143685405431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.841e-07	1.363e-06	0	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.002	0.79402	D	.	.	.	.	.	.	0.001136	0.40136	N	0.000000	0.630819	0.32788	D	.	.	.	-0.73	0.73100	T	-4.51	0.88289	D	0.371	0.41261	-0.3565	0.73366	T	0.360	0.72224	T	10	0.4666577	0.59611	T	0.014369	0.34441	T	0.400	0.71401	0.47	0.54376	0.570543898189	0.56720	0.1821970379992141	0.18138	0.0317804330332	0.03293	0.429568171501	0.29149	T	.	.	.	0.000132592	0.51673	T	-0.237586	0.51034	T	0.951683580875397	0.63617	D	0.564644	0.19916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.21803	B	.;.	.;.	2.464519	0.31755	18.84	0.99164989393106118	0.54212	0.62565	0.31820	D	AEFI	0.189362	0.31662	N	0.207574031732752	0.51565	3.336777	0.162231193951582	0.47794	3.004293	1.45620231453043E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	3.73	0.41982	1.561000	0.35950	5.029000	0.46811	0.733000	0.85838	0.631000	0.28008	0.978000	0.30204	0.998000	0.85391	0.9096:0.0:0.0904:0.0	8.591	0.32847	844	0.36711	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	940.06	39	chr7	48644645	.	A	G	940.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.364;DP=215;ExcessHet=0.4139;FS=5.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.242;SOR=0.341	GT:AD:DP:GQ:PL	0/1:23,23:46:99:466,0,560	4	0	2	0
chr7	50368258	50368258	C	T	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C413T:p.A138V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2742773	Acute_lymphoid_leukemia|not_provided|IKZF1-related_disorder	Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.00648398107326	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541802498	0.0002	0.0002	0.0002	0.0002	0.0108	0.0001	0.0001	0.0083	0.0074	0.0001	0.0001	0	0	0	0.0108	9.462e-05	9.773e-05	9.558e-05	0.0001	0.0001	0.0001	9.415e-05	0.0002	7.58e-05	6.284e-05	0.0001	7.894e-05	0.0001	0	0	0	0	0	0.0034	0.0002	0	0	0.0	0.91255	D	.	.	.	0.107	0.26081	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.78	0.21644	N	0.086	0.06322	-1.0217	0.23162	T	0.044	0.19029	T	7	0.040712714	0.02663	T	0.006484	0.17072	T	0.119	0.33137	0.125	0.03095	0.082315109003	0.07666	.	.	.	.	.	.	.	0.067099	0.33114	T	-0.517168	0.00457	T	-0.695939	0.06050	T	0.0225006375234229	0.00965	T	0.256474	0.04006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.53641	B	.	.	-0.715419	0.01285	0.068	0.38921415818926902	0.02654	0.00365	0.01864	N	AEFDGBI	0.038706	0.05518	N	-1.28043077984085	0.03911	0.1755919	-1.43338157960261	0.02923	0.1354314	0.999999707393444	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	-5.29	0.02535	-1.011000	0.03763	-0.614000	0.08207	-1.126000	0.01464	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.2346:0.3975:0.2132:0.1546	1.526	0.02373	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1944.83	111	chr7	50368258	.	C	T	1944.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=590;ExcessHet=0;FS=3.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.545;SOR=0.979	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	5	0	1	0
chr7	50792521	50792521	G	T	exonic	GRB10	.	nonsynonymous SNV	GRB10:NM_001350815:exon1:c.C4A:p.Q2K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31939805	0.49327	T	.	.	.	.	.	.	.	.	.	0.04081014389822126	0.04026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207979	0.02486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	3.128861	0.42274	21.5	0.96653732378609181	0.30600	0.93541	0.58498	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.08998	0.02334	0	0.085267	0.02369	0	0.054209	0.00285	2	0.088244	0.02422	0	0.964681	0.67975	4.22	4.22	0.49153	3.819000	0.55386	6.860000	0.56760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	11.930	0.52123	907	0.22727	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	33.92	.	chr7	50792521	.	G	T	33.92	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	0	1	3
chr7	55472872	55472872	C	T	exonic	VOPP1	.	nonsynonymous SNV	VOPP1:NM_001321246:exon4:c.G424A:p.V142I,VOPP1:NM_001321247:exon4:c.G308A:p.G103D,VOPP1:NM_001321248:exon4:c.G313A:p.V105I,VOPP1:NM_001284282:exon5:c.G451A:p.V151I,VOPP1:NM_001284283:exon5:c.G493A:p.V165I,VOPP1:NM_001284284:exon5:c.G475A:p.V159I,VOPP1:NM_001321242:exon5:c.G521A:p.G174D,VOPP1:NM_001321249:exon5:c.G389A:p.G130D,VOPP1:NM_001321250:exon5:c.G389A:p.G130D,VOPP1:NM_001321251:exon5:c.G389A:p.G130D,VOPP1:NM_030796:exon5:c.G502A:p.V168I,VOPP1:NM_001321243:exon6:c.G428A:p.G143D,VOPP1:NM_001321244:exon6:c.G496A:p.V166I	.	348	1164	10	0	0	10	0.00427716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00611534382965	.	.	0.0019	0	0	0	0	0.0027	0	0.0020	0.0001921	5	26028	rs753017721	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0088	0.0079	0.0005	0.0014	0.0006	0	0	0.0113	0.0007	0.0013	0.0005	0.0007	0.0008	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0015	0	0	0	0.0172	0.0009	0.0021	0.0005	0.11	0.29158	T	0.082	0.43913	T	0.975	0.58077	D	0.761	0.56482	P	.	.	.	.	0.944262	0.37442	D	1.04	0.26193	L	.	.	.	-0.5	0.20791	N	0.421	0.57433	-0.5813	0.65566	T	0.229	0.59434	T	8	0.02328536	0.00605	T	0.006115	0.15993	T	0.117	0.32689	.	.	0.352262096564	0.34836	0.314835483097391	0.31396	0.699190003716	0.61010	0.651013791561	0.60129	T	0.014112	0.12078	T	-0.341102	0.05312	T	-0.270009	0.47818	T	0.0497159107662204	0.05450	T	0.886711	0.61387	D	0.08660421	0.20136	0.1043666	0.25064	0.08660421	0.20136	0.1043666	0.25063	-7.013	0.57793	T	.	.	0.219	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067616	0.60414	24.2	0.99855892711894434	0.93458	0.95972	0.66957	D	AEFDGBI	0.529795	0.55076	D	0.553094033045629	0.70272	5.477097	0.60525913816113	0.75320	6.289914	0.999999938675794	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.326000	0.65654	7.594000	0.61341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.846	0.85844	805	0.43675	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.008596	0.017699	0.000000	0.017857	0.003676	0.004132	0.08333	276.83	34	chr7	55472872	.	C	T	276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.909;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.95;MQRankSum=1.33;QD=13.18;ReadPosRankSum=-0.32;SOR=1.329	GT:AD:DP:GQ:PL	0/0:17,0:17:48:0,48,720	5	0	1	0
chr7	56058445	56058445	G	A	exonic	CCT6A	.	nonsynonymous SNV	CCT6A:NM_001009186:exon6:c.G674A:p.R225K,CCT6A:NM_001762:exon7:c.G809A:p.R270K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.025972956284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.888e-07	1.368e-06	0	1.385e-06	9.027e-07	0	0	.	.	0	0	0	0	0	0	9.027e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02084	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.000000	0.84330	N	0.086474	0.999646	0.48019	D	0.415	0.12483	N	-1.02	0.76300	T	-0.38	0.17417	N	0.345	0.38643	-0.8598	0.51277	T	0.227	0.59158	T	10	0.07614726	0.11858	T	0.025973	0.48910	D	0.231	0.53208	0.478	0.55663	0.364535869594	0.36064	0.6234249207194661	0.62275	0.176366275699	0.19851	0.572799146175	0.49073	T	0.215696	0.57765	T	-0.0539215	0.43849	T	-0.315231	0.43094	T	0.148524463176727	0.16985	T	0.788221	0.42806	T	0.5734434	0.71249	0.3611045	0.61540	0.5734434	0.71250	0.3611045	0.61540	-7.527	0.57801	D	.	.	0.230	0.56959	B	.;.	.;.	2.624194	0.34107	19.53	0.78409749581840682	0.12289	0.97288	0.73812	D	AEFBI	0.847875	0.76471	D	-0.850250608884306	0.12043	0.5847017	-0.618956590618475	0.19007	1.01787	0.999974570028558	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	3.86	0.43689	5.854000	0.69242	.	.	-0.297000	0.06226	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1394:0.0:0.8606:0.0	14.025	0.64099	610	0.67008	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	467.83	33	chr7	56058445	.	G	A	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.77;DP=222;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.705;SOR=0.967	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	5	0	1	0
chr7	64831587	64831587	T	G	exonic	ZNF138	.	nonsynonymous SNV	ZNF138:NM_006524:exon3:c.T267G:p.D89E,ZNF138:NM_001271638:exon4:c.T249G:p.D83E,ZNF138:NM_001271639:exon4:c.T345G:p.D115E,ZNF138:NM_001367572:exon5:c.T174G:p.D58E	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0009	0.00239617	0.0018	0	0.0013	0	0	0.0010	0.0011	0.0080	0.0016041	248	154602	rs147588810	0.0011	0.0011	0.0009	0.0014	0.0079	0.0011	0.0011	0.0074	0.0072	8.965e-05	0.0009	0.0020	5.042e-05	7.492e-05	0.0033	0.0007	0.0011	0.0079	0.0008	0.0008	0.0007	0.0008	0.0075	0.0006	0.0006	0.0055	0.0049	0.0002	0	0.0007	0.0023	0.0002	0.0002	0.0034	0.0007	0.0005	0.0075	0.008	0.61437	D	0.358	0.23638	T	0.864	0.47514	P	0.437	0.45591	B	.	.	.	.	1	0.08975	N	.	.	.	3.51	0.04959	T	-3.12	0.65972	D	0.046	0.02088	-1.0198	0.23780	T	0.021	0.08963	T	9	0.004234642	0.00085	T	.	.	.	0.035	0.08770	0.16	0.06396	0.117506650769	0.11410	0.0040252320605216035	0.00377	0.122585095412	0.13814	.	.	.	.	.	.	-0.70477	0.00034	T	-0.781124	0.02419	T	0.0317831349857848	0.02271	T	0.60264	0.22576	T	.	.	.	.	.	.	.	.	-6.637	0.51335	T	.	.	0.115	0.31228	B	.;.;.	.;.;.	0.464503	0.08344	5.092	0.96346750343163889	0.29503	0.00501	0.02358	N	AEFBI	0.038064	0.05330	N	-0.892165934712263	0.11027	0.5300173	-1.1145648777584	0.07422	0.3609264	0.0194890606020563	0.13166	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.85	-1.7	0.07721	-2.206000	0.01315	.	.	-0.695000	0.04090	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4886:0.5114	2.920	0.05411	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.08333	1535.83	38	chr7	64831587	.	T	G	1535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.334;DP=285;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=1.13;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	5	0	1	0
chr7	64831925	64831925	G	T	exonic	ZNF138	.	nonsynonymous SNV	ZNF138:NM_001271649:exon2:c.G242T:p.C81F,ZNF138:NM_006524:exon3:c.G605T:p.C202F,ZNF138:NM_001271638:exon4:c.G587T:p.C196F,ZNF138:NM_001271639:exon4:c.G683T:p.C228F,ZNF138:NM_001367572:exon5:c.G512T:p.C171F	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0031553014196	0.0007	0.000399361	0.0006	0.0001	0.0010	0	0.0003	0.0008	0	0.0002	0.0005821	90	154602	rs138905610	0.0006	0.0006	0.0006	0.0006	0.0148	0.0005	0.0005	0.0123	0.0113	5.978e-05	0.0014	3.828e-05	0	0.0006	0.0148	0.0005	0.0010	0.0004	0.0007	0.0007	0.0005	0.0008	0.0024	0.0006	0.0005	0.0018	0.0016	9.626e-05	0	0.0024	0	0	0.0011	0	0.0006	0.0028	0.0004	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.873321	0.81001	D	.	.	.	-2.04	0.85703	D	-10.14	0.99082	D	0.249	0.33140	0.552	0.91260	D	0.785	0.92694	D	9	0.07132569	0.10499	T	0.003155	0.06876	T	0.309	0.63055	.	.	0.866239044016	0.86493	0.06289570206840663	0.06228	0.186690442142	0.20978	.	.	.	.	.	.	-0.182952	0.23298	T	-0.0656537	0.65935	T	0.447367429733276	0.30701	T	0.513049	0.17228	T	.	.	.	.	.	.	.	.	-7.824	0.59865	D	.	.	0.187	0.42007	B	.;.;.	.;.;.	2.242103	0.28630	17.86	0.96916147906401995	0.31597	0.95032	0.63190	D	AEFBI	.	.	.	0.127032862278325	0.47725	2.994357	-0.201096264344503	0.31496	1.783101	0.959529343908383	0.28432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	0.85	0.85	0.18119	5.333000	0.65692	.	.	0.338000	0.19717	1.000000	0.71638	0.000000	0.08366	0.008000	0.08271	0.0:0.0:1.0:0.0	6.997	0.23968	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008621	0.005102	0.010870	0.006061	0.000000	0.025862	0.009202	0.000000	0.08333	389.83	37	chr7	64831925	.	G	T	389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.45;DP=219;ExcessHet=0;FS=3.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.194;SOR=1.473	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1473	5	0	1	0
chr7	67278741	67278741	A	G	exonic	SPDYE21	.	nonsynonymous SNV	SPDYE21:NM_001382715:exon1:c.A28G:p.K10E	.	541	979	2	0	0	2	0.00102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409910782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.323e-05	1.314e-05	0	2.711e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	6.617e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	342.83	35	chr7	67278741	.	A	G	342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.012;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.48;MQRankSum=-0.095;QD=6.86;ReadPosRankSum=1.19;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	5	0	1	0
chr7	70790590	70790590	-	CCA	exonic	AUTS2	.	nonframeshift insertion	AUTS2:NM_001127231:exon18:c.3302_3303insCCA:p.H1109_P1110insH,AUTS2:NM_015570:exon19:c.3374_3375insCCA:p.H1133_P1134insH	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	360894	Autism_spectrum_disorder_due_to_AUTS2_deficiency|not_provided|Autism|Global_developmental_delay	MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	.	0.0098	0.0023	0.0036	0.0009	0.0004	0.0075	0.0166	0.0279	0.0003842	10	26028	rs1057518870	0.0084	0.0085	0.0077	0.0090	0.0268	0.0082	0.0082	0.0249	0.0246	0.0024	0.0058	0.0075	0.0014	0.0022	0.0268	0.0077	0.0091	0.0259	0.0062	0.0063	0.0063	0.0062	0.0265	0.0059	0.0058	0.0227	0.0213	0.0025	0.0066	0.0073	0.0061	0.0010	0.0018	0.0204	0.0078	0.0076	0.0265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2621.03	36	chr7	70790590	.	G	GCCA	2621.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.833;DP=341;ExcessHet=0.4139;FS=0.599;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.63;SOR=0.597	GT:AD:DP:GQ:PL	0/1:44,35:79:99:1268,0,1728	4	0	2	0
chr7	72815472	72815472	T	C	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.A145G:p.T49A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0016	9.688e-05	0.0150	0	0.0008	6.005e-05	0.0011	0.0005	0.0014553	225	154602	rs184391894	0.0005	0.0005	0.0006	0.0004	0.0136	0.0005	0.0005	0.0127	0.0123	0.0003	0.0136	0	2.534e-05	0.0005	0.0007	2.881e-05	0.0004	0.0006	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0045	0.0041	0.0002	0	0.0054	0	0	0.0005	0	4.41e-05	0.0014	0.0002	.	.	.	0.545	0.09588	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.004697293	0.00099	T	.	.	.	.	.	.	.	0.107399877778	0.10242	0.3654886115886064	0.36462	.	.	0.250639557838	0.03835	T	0.019492	0.15519	T	-0.496641	0.00597	T	-0.47449	0.25033	T	.	.	.	0.438156	0.12052	T	0.06358137	0.13404	0.16258688	0.37759	0.06358137	0.13403	0.16258688	0.37758	-4.591	0.32058	T	.	.	0.064	0.03887	B	.;.;.	.;.;.	-0.627824	0.01498	0.094	0.67558660980193574	0.08391	0.02061	0.06149	N	AEFDBI	0.034355	0.04239	N	.	.	.	.	.	.	0.00452924939631249	0.10600	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.092715	0.02821	0	.	.	2.68	-3.03	0.05100	-1.050000	0.03621	-2.949000	0.03201	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.3622:0.1587:0.4791	5.025	0.13721	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1592.83	34	chr7	72815472	.	T	C	1592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=-3.876;QD=10.76;ReadPosRankSum=0.491;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	5	0	1	0
chr7	72826863	72826863	C	T	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon2:c.G127A:p.E43K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00738818	0.0033	0.0191	0.0156	0	0.0008	4.497e-05	0.0022	0.0005	0.0030853	477	154602	rs201638072	0.0010	0.0011	0.0012	0.0009	0.0200	0.0010	0.0010	0.0187	0.0182	0.0200	0.0145	0	2.522e-05	0.0005	0.0009	3.598e-05	0.0016	0.0006	0.0066	0.0066	0.0067	0.0066	0.0210	0.0063	0.0062	0.0198	0.0194	0.0210	0	0.0078	0	0	0.0005	0.0034	4.41e-05	0.0043	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.004748285	0.00100	T	.	.	.	.	.	.	.	0.302459207581	0.29844	0.5428715162759994	0.54212	.	.	0.32956585288	0.14869	T	0.010297	0.09311	T	-0.356574	0.04327	T	-0.269375	0.47882	T	.	.	.	0.353365	0.07952	T	0.03566698	0.04242	0.12613198	0.30381	0.03566698	0.04242	0.12613198	0.30380	-2.762	0.07839	T	.	.	0.064	0.13830	B	.;.;.	.;.;.	1.300225	0.17018	12.91	0.59324623606674343	0.06198	0.00193	0.01117	N	AEFBI	0.023712	0.01360	N	.	.	.	.	.	.	0.991762519133101	0.32601	0.162113	0.03585	0	0.079893	0.02001	0	0.175069	0.04249	0	0.088406	0.02457	0	.	.	2.62	2.62	0.30337	1.485000	0.35127	3.301000	0.37383	-0.272000	0.06708	0.995000	0.38783	1.000000	0.68203	0.015000	0.10482	0.0:0.1159:0.0:0.8841	7.081	0.24408	846	0.36215	.;Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	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	0.000524	0.000000	0.001359	0.003676	0.000000	0.000000	0.000000	0.000000	0.08333	749.83	39	chr7	72826863	.	C	T	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.858;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.74;MQRankSum=-1.965;QD=13.39;ReadPosRankSum=-0.32;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	5	0	1	0
chr7	72864101	72864101	G	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.C674G:p.P225R	.	417	1103	1	0	1	2	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.00011	17	154602	rs182572291	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0037	0.0002	0.0044	0	2.519e-05	0.0003	0.0004	1.71e-05	0.0003	0.0004	0.0004	0.0006	0.0004	0.0005	0.0032	0.0004	0.0003	0.0025	0.0022	0.0002	0	0.0032	0	0	0.0005	0	2.942e-05	0.0009	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	.	.	.	.	.	.	.	.	0.08333	360.83	41	chr7	72864101	.	G	C	360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.05;DP=245;ExcessHet=0;FS=3.276;MLEAC=1;MLEAF=0.083;MQ=45.22;MQRankSum=-2.02;QD=6.94;ReadPosRankSum=-0.775;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530:.	5	0	1	0
chr7	72864120	72864120	A	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.T655G:p.C219G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs554867916	0.0003	0.0004	0.0003	0.0003	0.0052	0.0003	0.0002	0.0046	0.0044	0.0004	0.0052	0	0.0011	0.0004	0.0004	3.687e-05	0.0003	0.0005	0.0007	0.0008	0.0006	0.0007	0.0040	0.0006	0.0005	0.0032	0.0029	0.0005	0	0.0040	0	0.0006	0.0003	0	8.824e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	670.83	41	chr7	72864120	.	A	C	670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=264;ExcessHet=0;FS=3.686;MLEAC=1;MLEAF=0.083;MQ=49.52;MQRankSum=-0.617;QD=10.01;ReadPosRankSum=-1.988;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530:.	5	0	1	0
chr7	72940853	72940853	T	C	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon11:c.T908C:p.I303T,POM121:NM_001257190:exon13:c.T908C:p.I303T	.	542	978	2	0	0	2	0.00102145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00145418170853	.	.	0.0006	0.0001	0.0050	0	0.0003	3.634e-05	0	0.0004	0.0003458	9	26028	rs1248996137	0.0006	0.0006	0.0006	0.0005	0.0122	0.0005	0.0005	0.0114	0.0110	0.0004	0.0122	0	7.681e-05	0.0005	0.0008	9.71e-05	0.0004	0.0008	0.0006	0.0007	0.0006	0.0006	0.0045	0.0005	0.0005	0.0036	0.0033	0.0002	0	0.0045	0	0	0.0003	0	0.0001	0.0015	0.0011	0.518	0.07307	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.429746	0.04697	N	1.407060	1	0.08975	N	-1.83	0.00276	N	3.43	0.05440	T	1.96	0.00461	N	0.044	0.02759	-0.9459	0.41665	T	0.006	0.02055	T	10	0.004666209	0.00098	T	0.001454	0.02189	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.10628538105815692	0.10558	.	.	0.417625248432	0.27511	T	0.002632	0.02024	T	-0.424262	0.01607	T	-0.8472	0.00996	T	0.00450448588551297	0.00048	T	0.0310969	0.00283	T	0.01604007	0.00172	0.026646793	0.00765	0.01604007	0.00172	0.026646793	0.00765	-1.651	0.02104	T	.	.	0.068	0.03849	B	.;.;.;.;.	.;.;.;.;.	0.255380	0.06345	2.805	0.34498242501759396	0.02113	0.00073	0.00509	N	AEFI	0.015122	0.00274	N	-1.47158998175939	0.02052	0.09023613	-1.4078455549889	0.03173	0.1474844	1.01464419932089E-5	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.1	1.09	0.19517	-0.298000	0.08302	1.354000	0.25830	-0.744000	0.03643	0.000000	0.06391	0.001000	0.17328	0.138000	0.19872	0.0:0.4964:0.2253:0.2783	3.259	0.06438	437	0.80299	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	238.83	22	chr7	72940853	.	T	C	238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=165;ExcessHet=0;FS=3.821;MLEAC=1;MLEAF=0.083;MQ=27.79;MQRankSum=-1.802;QD=10.86;ReadPosRankSum=1.65;SOR=1.609	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,1227	5	0	1	0
chr7	73318943	73318943	C	T	exonic	TRIM50	.	nonsynonymous SNV	TRIM50:NM_001281450:exon4:c.G605A:p.R202H,TRIM50:NM_001281451:exon4:c.G605A:p.R202H,TRIM50:NM_178125:exon4:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	2274474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.037250660556	.	0.000199681	8.245e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs543800440	1.3e-05	1.368e-05	9.53e-06	1.65e-05	8.963e-05	8.31e-06	6.7e-06	3.766e-05	2.662e-05	8.963e-05	0	0	0	0	0	7.195e-06	1.656e-05	8.116e-05	3.281e-05	3.281e-05	3.853e-05	2.684e-05	0.0002	1.26e-05	7.97e-06	.	.	2.405e-05	0	6.533e-05	0	0	9.411e-05	0	1.47e-05	0	0.0002	0.05	0.39575	D	0.034	0.52727	D	.	.	.	.	.	.	0.128496	0.18729	N	0.419510	1	0.08975	N	.	.	.	-0.17	0.65563	T	-1.8	0.42384	N	0.201	0.22614	-0.8901	0.48925	T	0.231	0.59645	T	10	0.11693576	0.22072	T	0.037251	0.57497	D	0.141	0.37795	0.454	0.51775	0.826545055579	0.82490	0.35755557307843183	0.35669	0.924273002003	0.71573	0.512882947922	0.40626	T	0.025319	0.18955	T	-0.222566	0.17644	T	-0.354823	0.38650	T	0.523712158203125	0.33502	D	0.813919	0.46746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16538	B	.;.	.;.	4.206884	0.63523	24.6	0.99894826710532048	0.96819	0.09612	0.15329	N	AEFDBHCI	0.176901	0.30413	N	-0.114558193912055	0.36758	2.129085	-0.229379035381504	0.30489	1.717078	0.986463877259578	0.31068	0.553676	0.25195	0	0.588015	0.36545	0	0.600433	0.31921	0	0.584449	0.35598	0	.	.	4.36	3.48	0.38946	0.447000	0.21428	4.554000	0.43814	0.464000	0.21668	0.001000	0.13787	1.000000	0.68203	0.976000	0.56436	0.0:0.7312:0.173:0.0958	7.17	0.24889	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001127	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1746.83	33	chr7	73318943	.	C	T	1746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.138;DP=333;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.48;MQRankSum=0.714;QD=11.49;ReadPosRankSum=-0.094;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1254	5	0	1	0
chr7	73328587	73328587	C	T	exonic	FKBP6	.	nonsynonymous SNV	FKBP6:NM_001135211:exon2:c.C55T:p.R19W,FKBP6:NM_001281304:exon2:c.C70T:p.R24W,FKBP6:NM_001362789:exon2:c.C55T:p.R19W,FKBP6:NM_003602:exon2:c.C70T:p.R24W	.	445	1072	5	0	0	5	0.00232666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0561437235279	0.0012	.	0.0052	0	0	0	0	0.0097	0	0.0016	0.0006531	17	26028	rs200050904	0.0011	0.0011	0.0010	0.0012	0.0058	0.0011	0.0010	0.0040	0.0034	0.0003	0.0014	0.0312	0	0.0002	0.0058	0.0004	0.0025	0.0011	0.0012	0.0012	0.0012	0.0012	0.0013	0.0011	0.0010	0.0006	0.0005	7.249e-05	0	0.0010	0.0324	0	0.0002	0.0204	0.0005	0.0014	0.0013	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.953	0.69275	D	0.005443	0.32788	N	0.283385	0.725583	0.37339	D	2.005	0.54552	M	0.96	0.54911	T	-4.42	0.82511	D	0.481	0.56058	-0.6971	0.60577	T	0.212	0.57281	T	10	0.006667465	0.00151	T	0.056144	0.66496	D	0.189	0.46613	.	.	0.679133280349	0.67640	0.58584769241392	0.58514	3.16284728334	0.99441	0.589020073414	0.51356	T	0.453419	0.79336	T	-0.332762	0.05904	T	-0.296318	0.45112	T	0.0818965229481857	0.10228	T	0.871513	0.76258	D	0.33831328	0.56145	0.19547594	0.43226	0.33831328	0.56145	0.19547594	0.43225	-6.761	0.52871	T	.	.	0.163	0.41357	B	.;.;.;.	.;.;.;.	2.506047	0.32358	19.02	0.99823427877770454	0.90590	0.69066	0.34042	D	AEFBI	0.363383	0.45230	N	-0.141046962142459	0.35618	2.048083	-0.290082718162603	0.28425	1.584778	0.0221436412040732	0.13407	0.516011	0.20929	0	0.693144	0.66847	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.66	1.29	0.20717	1.049000	0.30001	1.396000	0.26156	0.469000	0.21855	0.907000	0.31601	0.998000	0.33993	0.154000	0.20445	0.237:0.763:0.0:0.0	13.636	0.61694	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005740	0.000000	0.011142	0.004545	0.000000	0.000000	0.000000	0.000000	0.08333	262.05	36	chr7	73328587	.	C	T	262.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.544;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.43;MQRankSum=0.15;QD=10.92;ReadPosRankSum=-0.996;SOR=0.602	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,665	5	0	1	0
chr7	74045245	74045245	G	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001081752:exon9:c.G463T:p.V155L,ELN:NM_001278913:exon9:c.G457T:p.V153L,ELN:NM_001278914:exon9:c.G478T:p.V160L,ELN:NM_001278917:exon9:c.G463T:p.V155L,ELN:NM_000501:exon10:c.G493T:p.V165L,ELN:NM_001081753:exon10:c.G508T:p.V170L,ELN:NM_001081754:exon10:c.G508T:p.V170L,ELN:NM_001081755:exon10:c.G493T:p.V165L,ELN:NM_001278912:exon10:c.G493T:p.V165L,ELN:NM_001278915:exon10:c.G493T:p.V165L,ELN:NM_001278916:exon10:c.G493T:p.V165L,ELN:NM_001278939:exon10:c.G493T:p.V165L	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	190789	not_provided|not_specified|Supravalvar_aortic_stenosis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0065	0.00539137	0.0016	0.0163	0.0023	0	0	1.508e-05	0	6.061e-05	0.00152	235	154602	rs61734581	0.0005	0.0005	0.0006	0.0004	0.0152	0.0004	0.0004	0.0141	0.0137	0.0152	0.0016	0	0	0	0.0007	3.058e-05	0.0013	2.319e-05	0.0044	0.0044	0.0044	0.0043	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0017	0	0	0	0	2.939e-05	0.0052	0.0002	0.036	0.91255	D	0.532	0.16914	T	0.99	0.63424	D	0.971	0.72444	D	.	.	.	.	0.854257	0.81001	D	1.7	0.43825	L	-1.01	0.76168	T	-1.23	0.54059	N	0.801	0.83371	-0.1210	0.79611	T	0.369	0.72864	T	9	0.008381695	0.00190	T	.	.	.	0.245	0.55201	0.144	0.04746	0.855917407964	0.85452	0.6749768984011361	0.67435	0.179054877184	0.20141	0.637444496155	0.58200	T	0.234468	0.80866	T	-0.255758	0.13400	T	-0.127181	0.61208	T	0.0343182204004223	0.02692	T	0.955504	0.87125	D	0.08658344	0.20131	0.23760779	0.49063	0.095377706	0.22446	0.21987575	0.46741	-6.541	0.52283	T	.	.	0.835	0.82201	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.218162	0.63779	24.6	0.99138879978162275	0.53464	0.76381	0.37456	D	AEFDBCI	0.719774	0.67055	D	0.50126892716182	0.67164	5.045435	0.439662707290235	0.64055	4.652215	0.999991117418351	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.562822	0.20929	0	.	.	3.75	3.75	0.42236	5.691000	0.67911	11.672000	0.94114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	11.259	0.48306	929	0.16858	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001554	0.005051	0.001359	0.006993	0.000000	0.000000	0.000000	0.000000	0.08333	389.83	34	chr7	74045245	.	G	T	389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.294;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1083	5	0	1	0
chr7	74051926	74051926	G	A	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon14:c.G784A:p.V262I,ELN:NM_001278918:exon14:c.G760A:p.V254I,ELN:NM_001081752:exon16:c.G862A:p.V288I,ELN:NM_001278914:exon16:c.G877A:p.V293I,ELN:NM_001278916:exon16:c.G850A:p.V284I,ELN:NM_001278917:exon16:c.G862A:p.V288I,ELN:NM_000501:exon17:c.G892A:p.V298I,ELN:NM_001081753:exon17:c.G907A:p.V303I,ELN:NM_001081754:exon17:c.G907A:p.V303I,ELN:NM_001081755:exon17:c.G892A:p.V298I,ELN:NM_001278912:exon17:c.G892A:p.V298I,ELN:NM_001278915:exon17:c.G892A:p.V298I,ELN:NM_001278939:exon17:c.G892A:p.V298I	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	240167	not_provided|Supravalvar_aortic_stenosis|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	.	0.0045	0.00379393	0.0012	0.0120	0.0016	0	0	3.009e-05	0	6.056e-05	0.0011449	177	154602	rs41526244	0.0004	0.0004	0.0004	0.0004	0.0116	0.0004	0.0004	0.0106	0.0102	0.0116	0.0012	0	2.519e-05	0	0.0003	7.644e-05	0.0010	3.478e-05	0.0032	0.0032	0.0033	0.0032	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0012	0	0	0	0	8.821e-05	0.0028	0.0002	0.084	0.91255	T	0.389	0.16086	T	0.468	0.36503	P	0.055	0.29615	B	.	.	.	.	1	0.08975	N	1.67	0.42885	L	1.33	0.50459	T	-0.49	0.21429	N	0.146	0.20262	-1.0648	0.10596	T	0.049	0.20789	T	9	0.0060070157	0.00135	T	.	.	.	0.063	0.18251	.	.	0.324161360171	0.32030	0.29908644609894547	0.29821	0.146451787718	0.16529	0.473534047604	0.35167	T	0.106466	0.51007	T	-0.50023	0.00570	T	-0.480934	0.24347	T	0.0255454487646816	0.01344	T	0.565243	0.28519	T	0.04083208	0.05902	0.117289014	0.28313	0.032090537	0.03170	0.109833546	0.26476	-6.478	0.50961	T	.	.	0.176	0.39134	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.044574	0.25992	16.96	0.96768793729317493	0.31027	0.08612	0.14517	N	AEFDGBHCI	0.423620	0.48913	N	-0.41638097091693	0.24894	1.347478	-0.408742334105479	0.24741	1.356503	0.999999999999981	0.74766	0.516213	0.21343	1	0.615948	0.52940	0	0.651303	0.49530	0	0.584449	0.35598	0	.	.	4.98	4.98	0.65679	3.271000	0.51311	7.238000	0.57892	0.661000	0.55757	0.142000	0.23535	0.999000	0.35428	0.020000	0.11549	0.0:0.0:1.0:0.0	13.831	0.62876	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.010101	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	400.83	42	chr7	74051926	.	G	A	400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.014;DP=244;ExcessHet=0;FS=1.259;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.569;SOR=0.394	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,103,1227	5	0	1	0
chr7	74254319	74254319	G	A	exonic	RFC2	.	nonsynonymous SNV	RFC2:NM_002914:exon1:c.C65T:p.P22L,RFC2:NM_181471:exon1:c.C65T:p.P22L	.	.	.	.	.	.	.	.	.	.	.	2200427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.014625254608	.	.	9.568e-06	0	0	0	0	1.725e-05	0	0	6.5e-06	1	154602	rs782571058	1.78e-05	1.779e-05	1.772e-05	1.789e-05	0.0007	1.239e-05	1.052e-05	0.0002	0.0001	0	0	0.0002	0	0	0.0007	1.259e-05	6.638e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.049	0.42199	D	0.052	0.47581	T	0.062	0.23277	B	0.013	0.16460	B	0.321481	0.14264	N	0.706063	0.999986	0.18198	N	1.24	0.30952	L	2.1	0.19990	T	-0.87	0.28703	N	0.24	0.27792	-1.0793	0.07485	T	0.047	0.19998	T	10	0.12724239	0.24197	T	0.014625	0.34872	T	0.041	0.10877	0.245	0.17984	0.448201132538	0.44443	0.6198663752458715	0.61919	0.525322443723	0.50200	0.64301431179	0.58993	T	0.124776	0.45003	T	-0.180425	0.23672	T	-0.496944	0.22666	T	0.194092303514481	0.20083	T	0.781022	0.41604	T	0.07218538	0.16038	0.13583125	0.32511	0.07218538	0.16038	0.13583125	0.32510	-4.322	0.30902	T	.	.	0.087	0.12655	B	.;.	.;.	2.503856	0.32326	19.01	0.97028354299351527	0.32055	0.19935	0.20852	N	AEFGBHCIJ	0.180711	0.30803	N	-0.498184492165391	0.22141	1.180111	-0.483032789505551	0.22621	1.229555	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.89	4.89	0.63387	1.254000	0.32500	5.408000	0.48530	0.676000	0.76740	0.003000	0.16062	0.978000	0.30204	0.011000	0.09372	0.0:0.0:1.0:0.0	15.282	0.73495	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	745.83	33	chr7	74254319	.	G	A	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-1.499;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	5	0	1	0
chr7	74376754	74376754	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.G2248A:p.E750K,CLIP2:NM_003388:exon10:c.G2353A:p.E785K	.	426	1093	3	0	0	3	0.00137049	.	.	.	3305638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0125921285795	.	0.000199681	0.0001	0	0.0001	0	0	0.0002	0.0015	0	7.12e-05	11	154602	rs199947783	8.219e-05	8.209e-05	7.631e-05	8.814e-05	0.0005	7.011e-05	6.561e-05	0.0001	7.541e-05	2.988e-05	9.006e-05	0	0	0.0001	0.0005	7.827e-05	9.946e-05	0.0001	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.087e-05	5.744e-05	0.0001	9.901e-05	2.405e-05	0	0	0	0	0	0	0.0002	0.0005	0.0002	0.112	0.29158	T	0.319	0.19188	T	0.668	0.41123	P	0.355	0.42984	B	0.014501	0.28517	N	0.373626	0.999649	0.51612	D	2.295	0.65404	M	0.19	0.60236	T	-1.87	0.47344	N	0.767	0.76481	-0.7273	0.59099	T	0.254	0.62360	T	10	0.4227434	0.56973	T	0.012592	0.31297	T	0.139	0.37390	.	.	0.508148174324	0.50453	0.3239795739203378	0.32310	0.650682689082	0.58340	0.639001607895	0.58422	T	0.138468	0.47198	T	-0.0721062	0.40990	T	-0.126017	0.61305	T	0.125339105725288	0.14945	T	0.766923	0.39491	T	0.12656818	0.29641	0.14647627	0.34701	0.12656818	0.29640	0.14647627	0.34700	-8.285	0.62995	D	.	.	0.223	0.45483	B	.;.;.	.;.;.	3.734355	0.53434	23.4	0.9987285333908964	0.94989	0.90287	0.51344	D	AEFDBHCI	0.716450	0.66828	D	0.276735176492867	0.54972	3.661673	0.346061775038808	0.58272	3.996692	0.996763074762689	0.34990	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	6.560000	0.73846	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.741	0.85320	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	557.83	39	chr7	74376754	.	G	A	557.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=238;ExcessHet=0;FS=1.082;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.036;SOR=0.908	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr7	75399067	75399067	A	G	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon2:c.A134G:p.Y45C,TRIM74:NM_198853:exon2:c.A134G:p.Y45C,TRIM73:NM_198924:exon2:c.A134G:p.Y45C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.00784651200563	.	.	0.0001	0	0	0	0.0008	0.0001	0	0	.	.	.	rs782671348	4.317e-05	4.583e-05	3.681e-05	4.959e-05	3.782e-05	3.448e-05	3.134e-05	2.831e-05	2.51e-05	0	0	0.0002	0	0.0002	0	3.782e-05	6.637e-05	1.163e-05	7.611e-05	9.267e-05	8.047e-05	7.146e-05	0.0002	4.176e-05	3.277e-05	8.257e-05	6.348e-05	0	0	0	0	0	0.0001	0	0.0002	0	0	0.062	0.36912	T	0.181	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.067692	0.02214	N	1.925500	1	0.08975	N	0.17	0.09006	N	-2.06	0.85875	D	-0.93	0.24898	N	0.093	0.07262	-0.7396	0.58473	T	0.326	0.69479	T	10	0.030756503	0.01204	T	0.007847	0.20824	T	0.310	0.63162	0.468	0.54052	0.185906805712	0.18197	0.07387235953152373	0.07324	.	.	0.376641988754	0.21779	T	0.008119	0.07471	T	-0.257219	0.13227	T	-0.487273	0.23677	T	0.0290521766826568	0.01845	T	0.142686	0.01160	T	0.058993004	0.11937	0.054354105	0.09333	0.058993004	0.11936	0.054354105	0.09333	-1.135	0.01162	T	.	.	0.075	0.05800	B	.;.;.;.	.;.;.;.	0.650452	0.10190	6.929	0.59251181270819075	0.06181	0.00212	0.01206	N	AEFBI	0.030826	0.03178	N	-1.39079706746354	0.02724	0.1206689	-1.42983586641624	0.02958	0.1370721	0.968185849688409	0.29033	0.638212	0.43195	0	0.670034	0.63936	0	0.667716	0.60424	0	0.620846	0.47308	0	.	.	2.31	-0.717	0.10644	-0.060000	0.11669	0.496000	0.18948	-1.049000	0.01645	0.000000	0.06391	0.004000	0.18990	0.017000	0.10941	0.5306:0.0:0.4694:0.0	6.727	0.22549	940	0.13648	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-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	.	.	.	.	.	.	.	.	0.08333	435.83	42	chr7	75399067	.	A	G	435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.003;DP=300;ExcessHet=0;FS=2.835;MLEAC=1;MLEAF=0.083;MQ=33.51;MQRankSum=-0.252;QD=3.6;ReadPosRankSum=-0.597;SOR=0.438	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	5	0	1	0
chr7	76533955	76533955	G	A	exonic	SPDYE16	.	nonsynonymous SNV	SPDYE16:NM_001351597:exon5:c.C800T:p.A267V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1244316431	6.402e-05	0.0002	6.972e-05	5.83e-05	0.0012	5.198e-05	4.803e-05	0.0009	0.0008	0	0.0012	4.844e-05	0	2.146e-05	0.0003	1.865e-05	0.0001	0.0001	1.087e-05	6.365e-05	0	2.224e-05	4.934e-05	0	0	.	.	4.934e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.531	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.08647102	0.14701	T	.	.	.	.	.	.	.	.	.	0.012609640500810659	0.01219	.	.	.	.	.	0.045584	0.27166	T	.	.	.	.	.	.	.	.	.	0.142786	0.01162	T	0.050287347	0.09062	0.11905638	0.28737	0.050287347	0.09061	0.11905638	0.28737	-3.893	0.22197	T	.	.	0.110	0.28261	B	.;.;.	.;.;.	-0.027104	0.04097	0.965	0.70823601631824495	0.09423	0.00129	0.00800	N	AEFI	.	.	.	.	.	.	.	.	.	1.24886946467749E-6	0.01202	0.078448	0.01964	0	0.097471	0.02872	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0448725	0.03863	0.376	0.376	0.15424	-0.513000	0.06389	-0.111000	0.11829	-0.954000	0.02017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	904	0.23766	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	96.22	4	chr7	76533955	.	G	A	96.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=117;ExcessHet=0;FS=12.175;MLEAC=1;MLEAF=0.083;MQ=27.54;MQRankSum=-3.067;QD=8.75;ReadPosRankSum=0.349;SOR=0.587	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,109,1466	5	0	1	0
chr7	77537635	77537635	G	A	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_002835:exon1:c.G89A:p.R30Q	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.231543618518	0.0002	0.000199681	0.0009	0.0002	0.0003	0	0.0004	0.0009	0	0.0024	0.0004786	74	154602	rs138381153	0.0005	0.0006	0.0004	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	9.476e-05	2.323e-05	0.0002	0	0.0005	0.0002	0.0005	0.0004	0.0027	0.0005	0.0005	0.0006	0.0004	0.0019	0.0004	0.0004	0.0010	0.0007	7.218e-05	0	0	0.0006	0	0.0006	0	0.0008	0.0005	0.0019	0.476	0.08335	T	0.343	0.17857	T	0.439	0.35873	B	0.02	0.19048	B	0.368019	0.13570	N	0.673120	0.781724	0.29325	N	0.77	0.19370	N	1.62	0.28189	T	0.06	0.06253	N	0.237	0.26717	-1.0630	0.11021	T	0.034	0.14596	T	10	0.011890203	0.00258	T	0.231544	0.88281	D	0.078	0.22779	.	.	0.51375633675	0.51017	0.279720681006298	0.27885	1.20263528524	0.80585	0.732449114323	0.71865	T	0.060007	0.31270	T	-0.495545	0.00606	T	-0.488896	0.23506	T	0.0651863024058845	0.07958	T	0.89721	0.64041	D	0.2001326	0.41977	0.12520786	0.30172	0.2001326	0.41977	0.12520786	0.30171	-2.752	0.07750	T	.	.	0.111	0.21428	B	.	.	3.857368	0.55922	23.7	0.88681212660094078	0.18170	0.81158	0.40622	D	AEFDBHCIJ	0.522894	0.54672	D	-0.339408372944977	0.27664	1.519571	-0.26984179756363	0.29097	1.627492	0.99999993643164	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.98	2.98	0.33575	3.447000	0.52699	10.885000	0.84068	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.2074:0.7926:0.0	10.035	0.41297	339	0.86048	PTP type protein phosphatase|PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	328.83	34	chr7	77537635	.	G	A	328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=201;ExcessHet=0;FS=6.779;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.205;SOR=0.105	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	5	0	1	0
chr7	77618562	77618562	G	A	exonic	PTPN12	.	nonsynonymous SNV	PTPN12:NM_001131009:exon11:c.G632A:p.R211H,PTPN12:NM_001131008:exon12:c.G665A:p.R222H,PTPN12:NM_002835:exon12:c.G1022A:p.R341H	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.02820688658	.	.	1.655e-05	0	0	0	0	3.006e-05	0	0	1.94e-05	3	154602	rs751126065	4.16e-05	4.653e-05	3.455e-05	4.871e-05	0.0002	3.289e-05	2.959e-05	3.598e-05	3.252e-05	6.068e-05	0	0	2.536e-05	0	0.0002	4.655e-05	5.023e-05	2.345e-05	2.63e-05	2.627e-05	2.571e-05	2.693e-05	4.412e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.412e-05	0	0	0.0	0.91255	D	0.056	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.565	0.75005	M	1.43	0.32958	T	-1.7	0.42384	N	0.736	0.74553	-0.7544	0.57705	T	0.200	0.55541	T	10	0.56817377	0.65169	D	0.028207	0.50918	D	0.229	0.52916	0.205	0.12076	0.502820412485	0.49921	0.38009217394039396	0.37924	0.146583872415	0.16547	0.797510921955	0.81585	T	0.192666	0.54788	T	-0.0588183	0.43092	T	-0.140737	0.60055	T	0.801505267620087	0.46456	D	0.963104	0.86259	D	0.5095269	0.67652	0.30323717	0.56355	0.5095269	0.67653	0.30323717	0.56354	-3.138	0.19584	T	.	.	0.665	0.76470	P	.;.;.	.;.;.	5.367350	0.89995	31	0.99939823284859497	0.99767	0.99369	0.95128	D	AEFBI	0.908405	0.86369	D	0.795804178112697	0.85841	8.698675	0.774511610079471	0.87970	9.410445	0.99999924064726	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	8.281000	0.89833	8.653000	0.77941	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	19.107	0.93282	883	0.28872	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	576.83	36	chr7	77618562	.	G	A	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.995;DP=241;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.379;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,918	5	0	1	0
chr7	80656562	80656562	C	T	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.C143T:p.T48I,CD36:NM_001289908:exon2:c.C143T:p.T48I,CD36:NM_001127443:exon3:c.C143T:p.T48I,CD36:NM_001289909:exon3:c.C143T:p.T48I,CD36:NM_000072:exon4:c.C143T:p.T48I,CD36:NM_001001547:exon4:c.C143T:p.T48I,CD36:NM_001001548:exon4:c.C143T:p.T48I,CD36:NM_001371074:exon4:c.C143T:p.T48I,CD36:NM_001371075:exon4:c.C143T:p.T48I,CD36:NM_001371077:exon4:c.C143T:p.T48I,CD36:NM_001371078:exon4:c.C143T:p.T48I	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1514	4	0	0	4	0.00131926	.	.	.	2331411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.693	0.0661310444281	.	.	2.482e-05	9.638e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs780265725	2.737e-05	2.805e-05	1.906e-05	3.576e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0002	0	6.711e-05	0	0	0	0.0002	8.096e-06	1.656e-05	0.0003	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.08	0.87267	M	-0.83	0.74159	T	-4.89	0.85176	D	0.714	0.92200	0.259	0.86900	D	0.621	0.86655	D	9	0.9519199	0.94532	D	0.066131	0.69785	D	0.693	0.88867	0.83	0.93978	0.848845432693	0.84739	0.9575294824765377	0.95737	3.71968781554E-4	0.00038	0.581376373768	0.50279	T	0.476365	0.80703	T	0.126923	0.67061	D	0.218839	0.84117	D	0.871911764144897	0.52180	D	0.955004	0.86839	D	0.93802714	0.95046	0.85535145	0.91864	0.93802714	0.95046	0.85535145	0.91865	-10.565	0.78066	D	0.7461278515183923	0.82821	0.955	0.89938	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.668205	0.74577	26.2	0.9991043621532808	0.98022	0.92013	0.54752	D	AEFHCI	0.920960	0.89371	D	0.798491085055395	0.86010	8.750805	0.752661748052033	0.86356	8.862812	0.999999999990867	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	5.294000	0.65483	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.600	0.91199	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	70	chr7	80656562	.	C	T	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=251;ExcessHet=0;FS=4.748;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.38;SOR=0.319	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	5	0	1	0
chr7	80671008	80671008	A	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.A733C:p.N245H,CD36:NM_001371080:exon7:c.A385C:p.N129H,CD36:NM_001127444:exon8:c.A850C:p.N284H,CD36:NM_001289909:exon8:c.A670C:p.N224H,CD36:NM_001289911:exon8:c.A622C:p.N208H,CD36:NM_001127443:exon9:c.A850C:p.N284H,CD36:NM_000072:exon10:c.A850C:p.N284H,CD36:NM_001001547:exon10:c.A850C:p.N284H,CD36:NM_001001548:exon10:c.A850C:p.N284H,CD36:NM_001371074:exon10:c.A850C:p.N284H,CD36:NM_001371075:exon10:c.A850C:p.N284H,CD36:NM_001371077:exon10:c.A850C:p.N284H,CD36:NM_001371078:exon10:c.A850C:p.N284H,CD36:NM_001371079:exon10:c.A748C:p.N250H,CD36:NM_001371081:exon10:c.A385C:p.N129H	Platelet glycoprotein IV deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0367667101625	.	.	8.24e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768809508	2.601e-05	2.668e-05	3.133e-05	2.064e-05	3.239e-05	1.933e-05	1.693e-05	2.371e-05	2.104e-05	0	0	0	0	0	0	3.239e-05	1.657e-05	1.16e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.039	0.49613	D	0.117	0.39340	T	0.703	0.41913	P	0.54	0.48825	P	0.001109	0.40219	N	0.283599	1	0.21810	N	2.75	0.80375	M	-0.61	0.71779	T	-2.72	0.57920	D	0.357	0.42050	-0.6202	0.63980	T	0.315	0.68504	T	9	0.21077952	0.37483	T	0.036767	0.57199	D	0.269	0.58381	0.4	0.42917	0.130388298395	0.12655	0.7499346495559543	0.74940	3.71968781554E-4	0.00038	0.347700089216	0.17583	T	0.13585	0.46790	T	-0.105591	0.35497	T	-0.292596	0.45501	T	0.786999106407166	0.45494	D	0.889111	0.63379	D	0.482962	0.66080	0.29364994	0.55393	0.482962	0.66080	0.29364994	0.55393	-6.551	0.50678	T	0.3594371646804513	0.45600	0.090	0.12465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.369616	0.17795	13.37	0.99236062075628162	0.56373	0.20315	0.20995	N	AEFCI	0.375547	0.46004	N	-0.646079361111405	0.17574	0.905494	-0.799998878018092	0.14496	0.7576667	0.118817501089885	0.16831	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.85	-2.72	0.05616	-0.267000	0.08648	-0.404000	0.09391	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.829000	0.39076	0.379:0.1386:0.4824:0.0	9.664	0.39138	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	656.83	34	chr7	80671008	.	A	C	656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=220;ExcessHet=0;FS=2.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.599;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	70.83	92	chr7	80674068	.	T	C	70.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.231;DP=274;ExcessHet=0;FS=61.564;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.911;SOR=6.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	5	0	1	0
chr7	83155272	83155272	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.G1369A:p.G457R,PCLO:NM_033026:exon2:c.G1369A:p.G457R	.	428	1073	19	2	0	23	0.010604	.	.	.	700246	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.00239617	0.0041	0.0003	0.0029	0	0.0003	0.0041	0.0022	0.0107	0.0038357	593	154602	rs144574814	0.0046	0.0046	0.0044	0.0048	0.0160	0.0045	0.0044	0.0133	0.0124	0.0006	0.0024	0.0185	0	0.0003	0.0160	0.0042	0.0056	0.0113	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0112	0.0103	0.0009	0	0.0019	0.0196	0	0.0002	0.0170	0.0038	0.0057	0.0139	0.433	0.09458	T	0.025	0.56192	D	0.157	0.28234	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15964	T	-1.08	0.28084	N	0.211	0.23506	-1.0117	0.26385	T	0.026	0.10998	T	9	0.0049199164	0.00105	T	.	.	.	0.042	0.11227	0.31	0.28289	0.0675242888579	0.06100	0.0882736804711831	0.08760	0.265799251449	0.29129	0.24127009511	0.02906	T	.	.	.	-0.691899	0.00041	T	-0.75868	0.03160	T	0.00888627188882829	0.00110	T	0.645335	0.25688	T	0.03834431	0.05089	0.057530824	0.10473	0.038431603	0.05118	0.06815152	0.14193	-8.652	0.65431	D	.	.	0.236	0.46927	B	.;.	.;.	1.252155	0.16489	12.57	0.89555626376048347	0.18898	0.11480	0.16662	N	AEFI	0.115531	0.22712	N	-0.914395105151028	0.10505	0.5023057	-0.99146945926259	0.09976	0.4995761	9.88023819527639E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.77	-0.0247	0.13263	0.751000	0.26013	-2.306000	0.03922	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5446:0.0:0.4554	7.943	0.29131	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	1	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.017544	0.050000	0.008621	0.006098	0.011364	0.08333	639.83	36	chr7	83155272	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=235;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.209;SOR=0.512	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1118	5	0	1	0
chr7	87452957	87452957	T	C	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon6:c.A523G:p.T175A,ABCB4:NM_018849:exon6:c.A523G:p.T175A,ABCB4:NM_018850:exon6:c.A523G:p.T175A	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	6	1494	21	1	0	23	0.00763866	.	.	.	28730	not_specified|not_provided|Cholestasis,_intrahepatic,_of_pregnancy,_3|Low_phospholipid_associated_cholelithiasis|Progressive_familial_intrahepatic_cholestasis_type_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665|MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663|MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.581	.	0.0085	0.00638978	0.0106	0.0012	0.0079	0.0006	0.0337	0.0107	0.0243	0.0133	0.0100581	1555	154602	rs58238559	0.0094	0.0094	0.0091	0.0096	0.0136	0.0092	0.0092	0.0130	0.0127	0.0013	0.0078	0.0051	0.0007	0.0353	0.0047	0.0086	0.0076	0.0136	0.0091	0.0091	0.0079	0.0103	0.0120	0.0087	0.0085	0.0095	0.0092	0.0013	0.0099	0.0074	0.0035	0.0004	0.0418	0.0034	0.0100	0.0057	0.0120	0.002	0.72154	D	0.083	0.41405	T	0.841	0.47740	P	0.615	0.55432	P	0.000000	0.84330	D	0.046680	1	0.81001	A	2.755	0.80505	M	-1.33	0.79854	T	-3.77	0.71997	D	0.322	0.51851	0.159	0.85208	D	0.481	0.80185	T	9	0.011848539	0.00257	T	.	.	.	0.581	0.83137	.	.	.	.	0.8884451188334237	0.88813	0.778371249764	0.65146	0.491507828236	0.37648	T	0.76704	0.93735	D	-0.121492	0.32879	T	0.0643854	0.74536	D	0.0273231974595752	0.01590	T	0.927907	0.73422	D	0.7808954	0.82709	0.70820194	0.82793	0.82174784	0.85339	0.6922355	0.81887	-8.721	0.66817	D	0.31431262091786344	0.41231	0.139	0.39982	B	.;.;.;.;.	.;.;.;.;.	4.349374	0.66796	25.0	0.99899103891873675	0.97124	0.99189	0.92544	D	AEFBI	0.877848	0.80274	D	0.521155578972957	0.68343	5.204016	0.574596404183443	0.73126	5.919407	0.999999960561408	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	5.089000	0.64326	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.258	0.82351	464	0.78488	.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.015244	0.007576	0.08333	432.83	33	chr7	87452957	.	T	C	432.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.553;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.03;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1039	5	0	1	0
chr7	87908065	87908065	A	G	exonic	DBF4	.	nonsynonymous SNV	DBF4:NM_001318060:exon11:c.A1228G:p.I410V,DBF4:NM_001318061:exon12:c.A1255G:p.I419V,DBF4:NM_001318062:exon12:c.A1147G:p.I383V,DBF4:NM_006716:exon12:c.A1927G:p.I643V	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00420445254734	0.0002	0.000199681	0.0002	0.0004	0.0006	0	0	0.0001	0	0.0005	0.0001811	28	154602	rs148580432	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0001	0.0009	3.829e-05	0	0	0.0026	0.0001	0.0007	0.0004	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	0	0	0.0001	0.0028	0.0002	0.793	0.03175	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.805431	0.09291	N	0.908181	1	0.08975	N	1.5	0.37844	L	1.6	0.28604	T	-0.16	0.09460	N	0.049	0.02088	-0.9758	0.35948	T	0.035	0.15291	T	10	0.017714292	0.00380	T	0.004204	0.10121	T	0.018	0.03083	.	.	0.50315201076	0.49952	0.09300891952656395	0.09232	0.124736295977	0.14054	0.337535381317	0.16069	T	0.041188	0.25775	T	-0.548138	0.00299	T	-0.635552	0.09997	T	0.00614808607546244	0.00068	T	0.59824	0.22282	T	0.027566848	0.01966	0.021217456	0.00181	0.027566848	0.01966	0.021217456	0.00181	-3.456	0.15821	T	.	.	0.072	0.04198	B	.	.	-0.052647	0.03933	0.874	0.44758173714464644	0.03464	0.10615	0.16071	N	AEFGBCI	0.048460	0.08272	N	-0.844522520037764	0.12185	0.592409	-0.743961597808246	0.15871	0.8368487	0.443873367107901	0.20476	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.61	2.03	0.25714	0.029000	0.13555	0.308000	0.17052	0.756000	0.94297	0.001000	0.13787	0.006000	0.19429	0.922000	0.45779	0.5366:0.0:0.1303:0.3331	3.253	0.06418	541	0.72942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.017857	0.006849	0.000000	0.000000	0.000000	0.000000	0.004000	0.1667	2462.06	36	chr7	87908065	.	A	G	2462.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.02;DP=354;ExcessHet=0.4139;FS=5.065;MLEAC=2;MLEAF=0.167;MQ=58.2;MQRankSum=0.393;QD=11.89;ReadPosRankSum=0.053;SOR=1.061	GT:AD:DP:GQ:PL	0/1:61,43:104:99:1053,0,1588	4	0	2	0
chr7	92040807	92040807	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4826A:p.R1609K,AKAP9:NM_147185:exon18:c.G4826A:p.R1609K	.	2	1517	3	0	0	3	0.000987817	.	.	.	655810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0105003809502	.	0.000599042	0.0004	0	0.0025	0	0.0002	0.0003	0.0033	0	0.0003946	61	154602	rs148146011	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.987e-05	0.0020	0.0007	0	3.744e-05	0.0033	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	9.633e-05	0	0.0012	0.0012	0	0	0	0.0002	0.0005	0.0004	0.186	0.21467	T	0.686	0.07518	T	.	.	.	.	.	.	0.000524	0.43581	D	0.000000	0.954299	0.26374	N	.	.	.	4.05	0.03092	T	-0.35	0.12847	N	0.113	0.26957	-1.0222	0.22998	T	0.013	0.05033	T	10	0.011005938	0.00242	T	0.011	0.27109	T	0.037	0.09474	.	.	0.385084120042	0.38121	0.21059081786531725	0.20975	0.199357701048	0.22332	0.707103550434	0.68173	T	0.257823	0.64280	T	-0.560859	0.00251	T	-0.584888	0.14111	T	0.0222847738322418	0.00941	T	0.806219	0.45479	T	0.09535455	0.22439	0.11842089	0.28586	0.09535455	0.22438	0.11842089	0.28585	-5.876	0.45230	T	.	.	0.243	0.49711	B	.;.;.;.	.;.;.;.	3.796036	0.54670	23.5	0.91839952688437132	0.21152	0.85325	0.44447	D	AEFBI	0.210202	0.33612	N	0.0236045481696767	0.42930	2.596034	0.133577509776135	0.46276	2.876341	0.996458878739137	0.34757	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.48	0.53973	2.851000	0.48001	9.656000	0.81182	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.1443:0.0:0.8557:0.0	10.84	0.45913	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.015152	0.004076	0.017544	0.000000	0.000000	0.000000	0.000000	0.08333	2018.83	38	chr7	92040807	.	G	A	2018.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.179;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-0.587;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,53:113:99:0|1:92040806_A_C:2029,0,2360:92040806	5	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	149.06	141	chr7	93102964	.	C	G	149.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.633;DP=463;ExcessHet=0.4139;FS=234.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.333;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,19:160:57:.:.:57,0,4898:.	4	0	2	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	240.76	142	chr7	93102965	.	C	G	240.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-5.225;DP=612;ExcessHet=0.4139;FS=241.27;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.501;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,30:161:99:.:.:147,0,4883:.	3	0	2	1
chr7	94551390	94551390	G	A	exonic	CASD1	.	nonsynonymous SNV	CASD1:NM_001363427:exon15:c.G1046A:p.R349H,CASD1:NM_001363428:exon15:c.G1313A:p.R438H,CASD1:NM_022900:exon15:c.G1868A:p.R623H,CASD1:NM_001363426:exon16:c.G1439A:p.R480H	.	.	.	.	.	.	.	.	.	.	.	3295423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00487971575508	0.0002	0.000199681	0.0001	0.0001	0	0.0001	0.0002	7.827e-05	0	0.0003	0.0001423	22	154602	rs150476678	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	3.096e-05	0	2.773e-05	5.69e-05	0	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0002	0.0005	0	0.293	0.14843	T	0.3	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	0.005216	0.32996	N	0.355822	0.728742	0.29850	N	-0.165	0.04321	N	0.95	0.43279	T	1.69	0.00584	N	0.123	0.11483	-1.0644	0.10689	T	0.029	0.12409	T	10	0.023097754	0.00594	T	0.00488	0.12255	T	0.055	0.15663	.	.	0.178374595973	0.17440	0.27836419279855873	0.27749	0.483244084845	0.47279	0.330159366131	0.14958	T	0.014914	0.12608	T	-0.43269	0.01428	T	-0.594877	0.13246	T	0.0498514321869069	0.05475	T	0.89791	0.64303	D	0.03074472	0.02791	0.044710573	0.05855	0.03074472	0.02790	0.044710573	0.05855	-2.126	0.03697	T	.	.	0.078	0.07036	B	.	.	3.272394	0.44800	22.0	0.9532166722083949	0.26668	0.85830	0.45008	D	AEFBI	0.110944	0.21982	N	-0.553337662976097	0.20380	1.073872	-0.291075563231098	0.28390	1.582695	4.27615317986064E-4	0.06935	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.63	2.83	0.32150	2.423000	0.44361	5.854000	0.50366	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.966000	0.53164	0.3617:0.0:0.6383:0.0	8.333	0.31356	632	0.64850	Cas1p 10 TM acyl transferase 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	.	.	.	.	.	.	.	.	0.08333	460.83	33	chr7	94551390	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.183;DP=213;ExcessHet=0;FS=1.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.709;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	5	0	1	0
chr7	95284095	95284095	T	C	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon15:c.T3254C:p.M1085T,PPP1R9A:NM_001166162:exon15:c.T3308C:p.M1103T,PPP1R9A:NM_001166160:exon17:c.T3374C:p.M1125T	.	429	1091	2	0	0	2	0.000915751	.	.	.	711200	not_provided|PPP1R9A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.0144835210125	0.0076	0.00219649	0.0057	0.0015	0.0019	0	0.0036	0.0092	0.0034	0.0013	0.0055239	854	154602	rs117573976	0.0091	0.0091	0.0095	0.0088	0.0109	0.0090	0.0089	0.0108	0.0107	0.0010	0.0031	0.0019	0	0.0049	0.0017	0.0109	0.0081	0.0013	0.0053	0.0053	0.0055	0.0050	0.0088	0.0050	0.0049	0.0082	0.0079	0.0014	0	0.0058	0.0017	0.0002	0.0044	0	0.0088	0.0033	0.0004	0.001	0.78490	D	0.035	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.4	0.15843	T	-2.37	0.54864	N	0.285	0.39760	-1.0493	0.14593	T	0.020	0.08266	T	9	0.007053435	0.00160	T	0.014484	0.34624	T	0.101	0.28911	.	.	0.31291088546	0.30898	0.2968393850924641	0.29596	0.221745772331	0.24710	0.442933440208	0.30979	T	.	.	.	-0.541011	0.00330	T	-0.542795	0.18023	T	0.0287728413600755	0.01803	T	0.554445	0.19192	T	.	.	.	.	.	.	.	.	-0.761	0.01818	T	.	.	0.277	0.58803	B	.;.;.;.	.;.;.;.	3.417908	0.47442	22.5	0.94411546735286067	0.24810	0.97257	0.73623	D	AEFBI	0.651074	0.62495	D	-0.136208238478353	0.35824	2.062627	0.0537676078992911	0.42254	2.552576	0.99812091106589	0.36460	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	4.4	4.4	0.52402	4.487000	0.60022	4.003000	0.41092	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.697	0.68742	844	0.36711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1644.83	34	chr7	95284095	.	T	C	1644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.876;DP=350;ExcessHet=0;FS=5.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.36;SOR=1.047	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1140	5	0	1	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	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	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.08333	929.83	34	chr7	95311568	.	A	C	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.12;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	5	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.08333	1391.83	33	chr7	95592889	.	T	C	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.614;DP=319;ExcessHet=0;FS=2.234;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.607;SOR=0.943	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1410	5	0	1	0
chr7	97006076	97006076	-	CAG	exonic	DLX6	.	nonframeshift insertion	DLX6:NM_005222:exon1:c.99_100insCAG:p.Q44_P45insQ	.	.	.	.	.	.	.	.	.	.	.	2115645	not_provided|DLX6-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.002	0	0.0007	0	7.211e-05	0	0.0004	0.0002458	38	154602	rs748608675	0.0006	0.0006	0.0006	0.0005	0.0036	0.0005	0.0005	0.0031	0.0029	0.0036	0.0013	0	0.0009	0	0.0006	0.0005	0.0008	0.0005	0.0015	0.0015	0.0017	0.0014	0.0040	0.0013	0.0013	0.0035	0.0033	0.0040	0	0.0014	0	0.0014	0	0	0.0004	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1357.79	57	chr7	97006076	.	A	ACAG	1357.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=1.14;SOR=0.656	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1572	5	0	1	0
chr7	98233522	98233522	T	C	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon11:c.A1571G:p.E524G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0269962607334	.	.	7.321e-05	0	0	0.0006	0	4.144e-05	0	0	1.94e-05	3	154602	rs770214191	1.41e-05	1.71e-05	1.399e-05	1.421e-05	0.0004	9.21e-06	7.48e-06	0.0003	0.0002	0	0	4.215e-05	0.0004	0	0	2.742e-06	0	0	6.606e-06	6.58e-06	0	1.353e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.087	0.32453	T	0.013	0.63109	D	0.839	0.46454	P	0.218	0.37679	B	0.000001	0.62929	D	0.056109	0.999798	0.49177	D	2.125	0.59049	M	1.27	0.36146	T	-1.83	0.42957	N	0.283	0.32037	-0.9752	0.36082	T	0.099	0.36830	T	10	0.1337966	0.25464	T	0.026996	0.49857	D	0.100	0.28662	0.316	0.29258	0.538421760271	0.53494	0.5037388496278227	0.50295	0.341874215475	0.36132	0.391062915325	0.23819	T	0.029521	0.21136	T	-0.0817461	0.39431	T	-0.355199	0.38608	T	0.363624542951584	0.27550	T	0.791221	0.43226	T	0.18246144	0.39467	0.14865169	0.35131	0.18246144	0.39466	0.14865169	0.35130	-2.893	0.09074	T	.	.	0.097	0.15921	B	.	.	3.510658	0.49159	22.7	0.99816598087251229	0.89973	0.89212	0.49542	D	AEFDBCI	0.612314	0.60044	D	0.175439547549776	0.50021	3.196328	0.176596984750756	0.48568	3.070954	0.999998805336351	0.74766	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	4.745000	0.61820	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.0:1.0	13.340	0.59981	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	770.83	35	chr7	98233522	.	T	C	770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=210;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.046;SOR=0.922	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1233	5	0	1	0
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009639	0.013889	0.000000	0.004464	0.000000	0.000000	0.021127	0.021277	0.08333	301.83	31	chr7	98617646	.	C	T	301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.385;DP=122;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-0.868;SOR=0.534	GT:AD:DP:GQ:PL	0/1:6,10:16:99:312,0,159	5	0	1	0
chr7	99005219	99005219	T	C	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_003496:exon67:c.T10495C:p.Y3499H,TRRAP:NM_001244580:exon68:c.T10582C:p.Y3528H,TRRAP:NM_001375524:exon69:c.T10624C:p.Y3542H	.	.	.	.	.	.	.	.	.	.	.	1275349	not_provided|Developmental_delay_with_or_without_dysmorphic_facies_and_autism	MedGen:C3661900|MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.927	0.159940102319	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs199577454	2.394e-05	2.394e-05	2.586e-05	2.2e-05	0.0038	1.739e-05	1.539e-05	0.0026	0.0022	0	0	0	0	0	0.0038	9.892e-06	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.119592	1	0.81001	D	2.44	0.70756	M	-1.52	0.81478	D	-3.76	0.71276	D	0.955	0.96416	0.539	0.91093	D	0.697	0.89543	D	10	0.8979465	0.89152	D	0.15994	0.84004	D	0.927	0.98229	0.669	0.80703	0.868594633239	0.86731	0.9383716600042861	0.93818	2.5862836791	0.98110	0.939507782459	0.99437	D	0.842093	0.96326	D	0.351018	0.86574	D	0.36329	0.90824	D	0.984081029891968	0.75517	D	0.962704	0.86724	D	0.22276928	0.44883	0.27161953	0.53065	0.22276928	0.44883	0.27161953	0.53064	-9.887	0.73232	D	0.9850787811356978	0.99605	0.994	0.94895	P	.;.;.;.	.;.;.;.	4.123843	0.61658	24.4	0.99810149683419847	0.89442	0.98908	0.88470	D	AEFDBI	0.878933	0.80451	D	0.818318099814755	0.87235	9.14914	0.770892712403956	0.87709	9.316189	0.999999999661814	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.642000	0.82531	7.857000	0.71250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:0.0:1.0	15.880	0.78980	285	0.88719	Phosphatidylinositol 3-/4-kinase, catalytic domain;.;Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	2076.83	171	chr7	99005219	.	T	C	2076.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.682;DP=356;ExcessHet=0;FS=1.89;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.365;SOR=0.867	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1467	5	0	1	0
chr7	99486688	99486688	C	G	exonic	ZNF789	.	nonsynonymous SNV	ZNF789:NM_001350999:exon4:c.C427G:p.L143V,ZNF789:NM_001351000:exon4:c.C364G:p.L122V,ZNF789:NM_213603:exon5:c.C478G:p.L160V,ZNF789:NM_001351002:exon6:c.C193G:p.L65V,ZNF789:NM_001351004:exon7:c.C193G:p.L65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00818199257693	0.0002	0.00139776	0.0005	0	0.0002	0	0	2.997e-05	0	0.0036	0.0004657	72	154602	rs149797851	0.0002	0.0002	0.0001	0.0002	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0003	2.698e-06	0.0004	0.0028	0.0002	0.0002	8.993e-05	0.0002	0.0048	0.0001	9.234e-05	0.0033	0.0028	2.407e-05	0	0	0	0	0	0	0	0	0.0048	0.082	0.33254	T	0.026	0.55759	D	0.421	0.35387	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	3.485	0.92608	M	1.78	0.25678	T	-2.03	0.46673	N	0.189	0.20660	-1.0051	0.28427	T	0.077	0.30676	T	9	0.005666554	0.00126	T	0.008182	0.21674	T	0.089	0.25827	.	.	0.319402600006	0.31557	0.0377106145453577	0.03717	0.663473762055	0.59019	0.241172775626	0.02897	T	0.012471	0.10959	T	-0.530337	0.00382	T	-0.53699	0.18594	T	0.148247098624436	0.16963	T	0.672833	0.28129	T	0.08001302	0.18310	0.07510658	0.16499	0.08001302	0.18309	0.07510658	0.16498	-5.333	0.40268	T	.	.	0.086	0.10883	B	.	.	0.942930	0.13185	9.688	0.98540850482266951	0.42719	0.19254	0.20589	N	AEFBI	0.073357	0.14670	N	-0.548290189108639	0.20538	1.083381	-0.742190024169473	0.15913	0.8393589	7.31721267367893E-5	0.04552	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	3.09	-0.121	0.12875	0.355000	0.19902	-0.003000	0.13174	-0.274000	0.06627	0.002000	0.15269	0.000000	0.08366	0.353000	0.25727	0.0:0.526:0.0:0.474	6.164	0.19594	331	0.86429	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2712.06	33	chr7	99486688	.	C	G	2712.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.017;DP=367;ExcessHet=0.4139;FS=0.484;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.03;SOR=0.736	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1123,0,1387	4	0	2	0
chr7	99493951	99493951	G	A	exonic	ZNF394	.	nonsynonymous SNV	ZNF394:NM_032164:exon3:c.C1264T:p.R422C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00375366063368	7.7e-05	.	4.942e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs140280438	3.352e-05	3.352e-05	2.722e-05	3.988e-05	0.0002	2.566e-05	2.312e-05	2.985e-05	2.022e-05	2.987e-05	8.944e-05	0	0	0	0.0002	3.147e-05	9.934e-05	2.319e-05	2.629e-05	2.627e-05	5.139e-05	0	6.55e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.55e-05	0	0	0	0	4.41e-05	0	0	0.063	0.36709	T	0.149	0.32568	T	0.0	0.02946	B	0.001	0.04355	B	0.551188	0.11434	N	0.784778	1	0.08975	N	1.91	0.51138	L	2.1	0.19990	T	1.15	0.01151	N	0.045	0.01740	-1.0124	0.26165	T	0.022	0.09193	T	10	0.088547975	0.15256	T	0.003754	0.08713	T	0.017	0.02790	.	.	0.19670166235	0.19296	.	.	0.397479418646	0.40839	0.26919978857	0.06037	T	0.014238	0.12157	T	-0.51566	0.00466	T	-0.780843	0.02427	T	0.0341095013909232	0.02657	T	0.681032	0.28992	T	0.043449283	0.06772	0.037724234	0.03487	0.043449283	0.06771	0.037724234	0.03487	-4.128	0.25701	T	.	.	0.128	0.27403	B	.	.	0.957291	0.13337	9.840	0.80649634807155735	0.13303	0.02431	0.06858	N	AEFDBHCI	0.047429	0.07985	N	-1.33367483512086	0.03297	0.1470403	-1.38160823819252	0.03448	0.1608555	0.999993208697839	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.54	-2.24	0.06518	-0.862000	0.04371	-3.554000	0.02700	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.276000	0.23917	0.4535:0.0:0.2336:0.3129	4.089	0.09437	329	0.86514	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	.	.	.	.	.	.	.	.	0.08333	1125.83	34	chr7	99493951	.	G	A	1125.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=284;ExcessHet=0;FS=6.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.099;SOR=1.347	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1325	5	0	1	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	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	369.83	36	chr7	99563862	.	G	A	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.799;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.989;SOR=0.551	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	5	0	1	0
chr7	99572910	99572910	T	C	exonic	ZNF655	.	nonsynonymous SNV	ZNF655:NM_001009960:exon3:c.T802C:p.Y268H,ZNF655:NM_001363334:exon3:c.T802C:p.Y268H,ZNF655:NM_138494:exon3:c.T802C:p.Y268H,ZNF655:NM_001083956:exon4:c.T907C:p.Y303H,ZNF655:NM_001085368:exon4:c.T907C:p.Y303H,ZNF655:NM_001363332:exon4:c.T907C:p.Y303H,ZNF655:NM_001363333:exon4:c.T907C:p.Y303H	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	0.0065	0.00978435	0.0082	0.0014	0.0035	0.0001	0.0135	0.0089	0.0066	0.0155	0.00793	1226	154602	rs7783862	0.0081	0.0081	0.0078	0.0084	0.0129	0.0080	0.0079	0.0123	0.0121	0.0012	0.0043	0.0036	2.52e-05	0.0139	0.0052	0.0083	0.0073	0.0129	0.0068	0.0068	0.0065	0.0071	0.0131	0.0065	0.0063	0.0105	0.0095	0.0015	0.0197	0.0057	0.0037	0	0.0153	0	0.0091	0.0066	0.0131	0.054	0.91255	T	0.07	0.53426	T	0.889	0.48869	P	0.653	0.52567	P	0.000813	0.41658	D	0.000000	1	0.81001	D	1.61	0.41143	L	1.99	0.21666	T	-4.58	0.79143	D	0.319	0.41261	-1.1713	0.00515	T	0.041	0.17700	T	10	0.004024029	0.00078	T	.	.	.	0.120	0.33359	.	.	0.0666544352282	0.05500	0.13151110690390708	0.13076	0.225179848457	0.25062	0.540488779545	0.44515	T	0.19214	0.54721	T	-0.418467	0.01749	T	-0.362199	0.37798	T	0.0437381184261215	0.04373	T	0.953105	0.82243	D	0.19936997	0.41873	0.21171641	0.45611	0.19936997	0.41873	0.21171641	0.45610	-5.635	0.43111	T	.	.	0.372	0.57932	A	.;.;.;.	.;.;.;.	4.207304	0.63535	24.6	0.99837223746291293	0.91800	0.80485	0.40110	D	AEFGBCI	0.303924	0.41176	N	0.274394854923824	0.54854	3.650139	0.294488807778051	0.55217	3.684951	0.0342953730162883	0.14147	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.34	4.21	0.48984	3.843000	0.55575	7.676000	0.65050	0.665000	0.62972	0.392000	0.26104	1.000000	0.68203	0.996000	0.76049	0.0:0.0875:0.0:0.9125	8.925	0.34794	273	0.89298	.;.;.;.	.	.	.	.	rs7783862	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.050000	0.000000	0.003049	0.022727	0.08333	1118.83	91	chr7	99572910	.	T	C	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.958;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.06;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	5	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.08333	956.83	33	chr7	100029881	.	C	G	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.92;DP=266;ExcessHet=0;FS=3.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.303;SOR=1.134	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	5	0	1	0
chr7	100106862	100106862	G	A	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon15:c.G1363A:p.A455T,AP4M1:NM_004722:exon15:c.G1342A:p.A448T	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	207436	not_provided|Hereditary_spastic_paraplegia_50|not_specified|Hereditary_spastic_paraplegia|AP4M1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.00721912620788	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0.0023	0.0001	0.0002264	35	154602	rs147738731	0.0003	0.0003	0.0002	0.0003	0.0088	0.0002	0.0002	0.0069	0.0062	0.0002	0.0002	0.0025	5.038e-05	0	0.0088	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0.0003	0.0029	0.0002	0	0.0032	0.0003	0	0	0.039	0.42487	D	0.494	0.25907	T	0.008	0.14655	B	0.004	0.10090	B	0.000007	0.62929	D	0.110266	0.988929	0.43968	D	-0.625	0.02162	N	2.17	0.19020	T	-0.45	0.14782	N	0.068	0.11340	-0.9885	0.32978	T	0.016	0.06425	T	10	0.038645953	0.02297	T	0.007219	0.19143	T	0.098	0.28162	.	.	0.36893422563	0.36505	0.4587114228224545	0.45789	0.10008063047	0.11309	0.508121609688	0.39959	T	0.058399	0.30832	T	-0.440513	0.01285	T	-0.57435	0.15052	T	0.0357600004055112	0.02939	T	0.852415	0.53747	D	0.19090977	0.40695	0.11519746	0.27807	0.23768955	0.46636	0.09829594	0.23429	-2.942	0.09569	T	0.2559488148643369	0.34605	0.079	0.10931	B	.;.;.;.	.;.;.;.	3.560942	0.50109	22.9	0.99171917894246964	0.54412	0.79283	0.39257	D	AEFDGBI	0.185938	0.31326	N	-0.518033416493859	0.21496	1.141258	-0.324148020133679	0.27321	1.515183	0.999999515887781	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	3.84	0.43422	2.187000	0.42234	9.672000	0.81222	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.138000	0.19872	0.1136:0.0:0.6669:0.2194	4.651	0.11978	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.017241	0.000000	0.007576	0.08333	668.83	35	chr7	100106862	.	G	A	668.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.014;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=3.12;SOR=0.705	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1247	5	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:100175805_G_C:392,0,1201:100175805	0	0	5	1
chr7	100177184	100177184	G	A	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon1:c.C16T:p.P6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0105524294306	.	.	4.492e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs762233816	8.899e-06	8.893e-06	2.724e-06	1.514e-05	0.0001	4.97e-06	3.83e-06	7.134e-05	5.489e-05	0	0	0	0	0	0	8.995e-07	1.658e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.09629	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.275968	0.15036	N	0.632829	0.99898	0.21747	N	0.435	0.12660	N	1.23	0.36872	T	-0.9	0.24244	N	0.062	0.03392	-1.0027	0.29139	T	0.029	0.12365	T	10	0.057523787	0.06621	T	0.010552	0.27217	T	0.042	0.11227	0.259	0.20159	0.130388298395	0.12655	0.4722806840888063	0.47147	0.30379330075	0.32703	0.564588904381	0.47915	T	0.10472	0.41453	T	-0.524219	0.00416	T	-0.731101	0.04278	T	0.0406968318877805	0.03816	T	0.368563	0.08641	T	0.033237256	0.03503	0.039068963	0.03917	0.033237256	0.03502	0.039068963	0.03917	-5.185	0.38789	T	.	.	0.074	0.05274	B	.	.	0.535181	0.09040	5.821	0.83491396327980649	0.14755	0.05086	0.10883	N	ALL	0.055162	0.10093	N	-1.53276491824844	0.01638	0.07162088	-1.43188445853391	0.02938	0.1361169	0.999997678952591	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.29	-0.161	0.12716	-0.007000	0.12747	1.501000	0.26956	-0.973000	0.01932	0.917000	0.31872	0.998000	0.33993	0.060000	0.15972	0.4343:0.0:0.3352:0.2305	2.795	0.05067	287	0.88635	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	229.83	30	chr7	100177184	.	G	A	229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.277;DP=180;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=2;SOR=1.27	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1076	5	0	1	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.08333	861.83	37	chr7	100220255	.	C	T	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=236;ExcessHet=0;FS=4.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=1.94;SOR=0.268	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr7	100314556	100314556	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon6:c.C1007T:p.P336L	.	587	933	0	2	0	4	0.00213904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.00219649	0.0016	0	0.0004	0	0	0.0001	0	0.0101	0.0007244	112	154602	rs185181307	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.932e-05	0	0	0	0.0006	2.291e-05	0.0006	0.0058	0.0003	0.0003	0.0001	0.0005	0.0090	0.0002	0.0002	0.0067	0.0059	5.806e-05	0	0	0	0	0	0	0	0	0.0090	0.292	0.14894	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.2	0.49519	N	0.071	0.04426	-1.0080	0.27541	T	0.052	0.22076	T	4	0.005325198	0.00117	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.010637752304975092	0.01024	1.47686996324	0.86643	.	.	.	0.029378	0.21062	T	-0.531388	0.00377	T	-0.534021	0.18886	T	0.037379401505994	0.03223	T	0.130787	0.01031	T	0.05646106	0.11112	0.12803924	0.30810	0.05646106	0.11112	0.12803924	0.30810	-10.428	0.76432	D	.	.	0.187	0.40344	B	.	.	0.967640	0.13443	9.954	0.25846354168856783	0.01211	0.03055	0.07955	N	AEFI	0.036323	0.04822	N	-0.741398034514801	0.14869	0.7443482	-0.90416226674536	0.11995	0.6145253	1.10530146109008E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.632000	0.24273	-8.038000	0.01039	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1243.93	21	chr7	100314556	.	C	T	1243.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.154;DP=181;ExcessHet=0.5115;FS=2.611;MLEAC=2;MLEAF=0.2;MQ=37.23;MQRankSum=2.21;QD=11.74;ReadPosRankSum=1.67;SOR=0.452	GT:AD:DP:GQ:PL	0/1:25,36:61:99:755,0,472	3	0	2	1
chr7	100319614	100319614	A	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon9:c.A1396T:p.I466F	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.000345042112731	0.0048	0.00179712	0.0043	0.0005	0.0012	0	0.0056	0.0067	0.0044	0.0004	0.0041914	648	154602	rs200892093	0.0049	0.0049	0.0049	0.0049	0.0109	0.0048	0.0048	0.0088	0.0080	0.0008	0.0013	0.0186	0	0.0051	0.0109	0.0054	0.0047	0.0003	0.0039	0.0039	0.0039	0.0038	0.0059	0.0036	0.0035	0.0054	0.0052	0.0006	0	0.0018	0.0193	0	0.0054	0.0034	0.0059	0.0043	0.0006	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000530	0.43581	D	0.095245	1	0.08975	N	3.06	0.86941	M	.	.	.	-3.31	0.65972	D	0.465	0.50146	-0.8605	0.51227	T	0.163	0.49980	T	6	0.011924058	0.00259	T	3.45E-4	0.00039	T	0.171	0.43483	.	.	0.0675242888579	0.06100	0.24494128623059327	0.24408	0.20692334296	0.23130	.	.	.	0.31524	0.68686	T	-0.295002	0.09139	T	-0.184203	0.56131	T	0.0719273038436829	0.08918	T	0.888511	0.61827	D	0.53700966	0.69228	0.45613778	0.68387	0.53700966	0.69229	0.45613778	0.68387	-10.328	0.75852	D	.	.	0.58	0.68052	P	.	.	2.036941	0.25894	16.92	0.94278473685668363	0.24570	0.00416	0.02058	N	AEFDBI	0.028120	0.02418	N	-0.560471071124954	0.20156	1.060524	-0.864409325114642	0.12942	0.668644	9.12763380145057E-6	0.01202	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.185	0.185	0.14378	1.162000	0.31396	6.873000	0.56793	0.261000	0.18407	0.007000	0.17678	0.984000	0.30665	0.006000	0.07323	.	.	.	281	0.88893	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.010101	0.002717	0.011696	0.000000	0.025862	0.003049	0.007576	0.08333	1181.83	34	chr7	100319614	.	A	T	1181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.858;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.46;MQRankSum=-1.901;QD=10.55;ReadPosRankSum=-0.526;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	5	0	1	0
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I,LRCH4:NM_002319:exon5:c.G646A:p.V216I	.	415	1068	36	3	0	42	0.0192837	.	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017120	0.005051	0.021739	0.005882	0.000000	0.043103	0.018293	0.018939	0.08333	596.83	38	chr7	100578739	.	C	T	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=230;ExcessHet=0;FS=4.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.321;SOR=0.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	5	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1519.29	59	chr7	100773851	.	A	*	1519.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=392;ExcessHet=0.7136;FS=2.532;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-1.128;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1219:.	2	2	2	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7693.02	59	chr7	100773854	.	G	*	7693.02	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.505;DP=371;ExcessHet=0.7136;FS=2.558;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.83;ReadPosRankSum=1.37;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1219:.	5	0	1	0
chr7	100786066	100786066	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon37:c.G6904A:p.G2302R,ZAN:NM_173059:exon37:c.G6904A:p.G2302R	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.00141368348533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200555930	2.395e-05	2.463e-05	2.45e-05	2.338e-05	0.0002	1.739e-05	1.539e-05	1.83e-05	1.582e-05	0	0	0	0	1.874e-05	0.0002	2.608e-05	6.626e-05	0	1.971e-05	1.97e-05	3.853e-05	0	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	.	.	.	0.903	0.03021	T	0.001	0.07471	B	0.001	0.04355	B	0.397035	0.04512	N	1.461850	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.097	0.10626	-0.9357	0.43288	T	0.007	0.02321	T	9	0.050958455	0.04906	T	0.001414	0.02088	T	0.265	0.57870	0.432	0.48171	0.117506650769	0.11410	0.5240625416487723	0.52330	0.0818412678812	0.09219	0.184047847986	0.00137	T	0.002266	0.01662	T	0.368157	0.87893	D	0.291055	0.87737	D	0.085916556417942	0.10725	T	0.760924	0.38541	T	0.04107942	0.05984	0.07233965	0.15594	0.04107942	0.05984	0.07233965	0.15593	-0.221	0.00437	T	.	.	0.059	0.00742	B	.;.;.;.	.;.;.;.	-0.974872	0.00808	0.027	0.87126042349072164	0.17006	0.00757	0.03139	N	AEFDBIJ	0.018016	0.00514	N	-1.37357511696995	0.02887	0.1281718	-1.42227487066613	0.03030	0.1405792	0.0255053720944553	0.13653	0.053988	0.00671	0	0.059962	0.00310	0	0.050388	0.00267	0	0.058706	0.01089	0	.	.	4.77	-3.44	0.04493	-1.848000	0.01766	-6.572000	0.01362	-0.826000	0.02916	0.000000	0.06391	0.000000	0.08366	0.377000	0.26268	0.3587:0.2435:0.2418:0.1559	1.227	0.01819	697	0.58201	TILa domain|VWFC domain|VWFC domain;TILa domain|VWFC domain;TILa domain|VWFC domain|VWFC domain;TILa domain|VWFC 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	.	.	.	.	.	.	.	.	0.08333	296.83	41	chr7	100786066	.	G	A	296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=230;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.44;SOR=0.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	5	0	1	0
chr7	100819734	100819734	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon6:c.G1120A:p.G374R	.	427	1092	3	0	0	3	0.00137174	.	.	.	2858811	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.548	0.178587345	.	0.000998403	0.0010	0.0001	0.0012	0	0	4.273e-05	0	0.0051	0.0006404	99	154602	rs534368922	0.0003	0.0003	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	2.993e-05	0.0009	0	0	0	0.0007	3.961e-05	0.0003	0.0041	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	9.618e-05	0	0.0008	0	0	0	0	7.35e-05	0.0005	0.0052	0.03	0.45393	D	0.085	0.41074	T	0.981	0.59675	D	0.73	0.55268	P	0.004217	0.33991	N	0.137133	0.987292	0.24531	N	1.63	0.41750	L	-4.4	0.97419	D	-3.49	0.69593	D	0.34	0.38129	0.542	0.91127	D	0.891	0.96382	D	10	0.014349163	0.00302	T	0.178587	0.85366	D	0.548	0.81252	0.59	0.71874	0.942627131603	0.94202	0.5405495959261755	0.53979	1.0380228498	0.75678	0.660882771015	0.61535	T	0.273468	0.64591	T	-0.0448753	0.45224	T	0.161925	0.80925	D	0.314560621976852	0.25600	T	0.818018	0.49436	T	0.22113293	0.44684	0.2083226	0.45130	0.20166036	0.42184	0.19923347	0.43795	-7.239	0.55761	T	0.2109400763986856	0.28271	0.137	0.29887	B	.;.	.;.	3.818768	0.55127	23.6	0.99854537233845608	0.93368	0.82015	0.41310	D	AEFDBI	0.274137	0.38939	N	0.301704343220864	0.56237	3.788016	0.22092247390116	0.51011	3.287318	0.999999337613891	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.46	4.57	0.55860	2.625000	0.46117	5.788000	0.49850	0.599000	0.40250	0.016000	0.19238	1.000000	0.68203	0.015000	0.10482	0.1845:0.7236:0.0:0.0918	6.294	0.20283	691	0.58815	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	1342.83	34	chr7	100819734	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=287;ExcessHet=0;FS=9.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.91;SOR=1.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1394	5	0	1	0
chr7	100884215	100884215	G	T	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon6:c.G733T:p.A245S,SRRT:NM_001128853:exon6:c.G733T:p.A245S,SRRT:NM_001128854:exon6:c.G733T:p.A245S,SRRT:NM_015908:exon6:c.G733T:p.A245S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00697921788641	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs140988239	4.104e-06	4.104e-06	1.361e-06	6.875e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	4.967e-05	2.319e-05	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.613	0.07691	T	0.728	0.43887	P	0.219	0.41976	B	0.004680	0.33505	N	0.236882	0.997959	0.44355	D	1.475	0.37068	L	.	.	.	.	.	.	0.589	0.60918	-1.0320	0.19809	T	0.116	0.40919	T	9	0.19313142	0.35070	T	0.006979	0.18485	T	.	.	.	.	0.102598925029	0.09809	0.27600257055637706	0.27513	.	.	0.534827649593	0.43714	T	0.136977	0.46965	T	-0.0789774	0.39881	T	-0.351222	0.39065	T	0.282814856540149	0.24289	T	0.753825	0.37593	T	0.16566214	0.36852	0.08929064	0.20871	0.16566214	0.36852	0.08929064	0.20870	-4.113	0.25584	T	.	.	0.088	0.12418	B	.;.;.;.	.;.;.;.	3.474684	0.48488	22.6	0.99231700228971098	0.56246	0.91040	0.52743	D	AEFDBCI	0.558232	0.56754	D	0.102547363591978	0.46580	2.896312	0.176393511416609	0.48556	3.069993	0.999999092541205	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.06	4.06	0.46572	3.895000	0.55971	7.537000	0.60015	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	11.928	0.52113	692	0.58729	.;.;.;SERRATE/Ars2, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2451.06	45	chr7	100884215	.	G	T	2451.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.008;DP=349;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.839;SOR=0.562	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1060,0,1409	4	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,160:472:99:0|1:100952930_T_C:5779,0,12619:100952930	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,86:438:99:0|1:100953098_G_C:2720,0,12170:100953098	0	0	6	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1195.45	353	chr7	100953225	.	G	*	1195.45	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.83;DP=2114;ExcessHet=6.1542;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=57.87;MQRankSum=-18.2;QD=0.69;ReadPosRankSum=-5.269;SOR=0.852	GT:AD:DP:GQ:PL	0/1:316,30:361:99:280,0,13326	5	0	1	0
chr7	100953313	100953313	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1534A:p.P512T	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967061375	0.0005	0.0005	0.0004	0.0006	0.0045	0.0004	0.0004	0.0038	0.0035	0	0	0.0025	0	0	0.0006	9.908e-05	0.0004	0.0045	0.0002	0.0011	0.0002	0.0003	0.0036	0.0002	0.0001	0.0023	0.0019	2.486e-05	0	6.76e-05	0.0026	0	0	0	5.983e-05	0	0.0036	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.00142	.	.	.	.	.	.	.	0.019521058	0.00437	T	.	.	.	.	.	.	.	.	.	0.026023660895657615	0.02553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331367	0.06940	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.116	0.23395	B	.;.	.;.	-0.922023	0.00890	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.168000	0.09914	-9.533000	0.00808	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2923.83	441	chr7	100953313	.	C	A	2923.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.815;DP=2631;ExcessHet=0;FS=6.737;MLEAC=1;MLEAF=0.083;MQ=57.56;MQRankSum=6.14;QD=8.83;ReadPosRankSum=-1.756;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:487,0:487:99:.:.:0,120,1800:.	5	0	1	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33149.9	464	chr7	100953371	.	C	*	33149.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.544;DP=3329;ExcessHet=6.1542;FS=4.984;MLEAC=1;MLEAF=0.083;MQ=57.14;MQRankSum=-13.21;QD=12.08;ReadPosRankSum=0.606;SOR=1.056	GT:AD:DP:GQ:PL	0/0:356,0:598:99:6109,7180,22129	5	0	1	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	926.04	586	chr7	100953494	.	C	*	926.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.326;DP=4210;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.79;MQRankSum=-7.231;QD=0.59;ReadPosRankSum=1.92;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:793,0:793:99:.:.:0,120,1800:.	5	0	1	0
chr7	100953539	100953539	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1760A:p.P587H	.	784	663	71	3	1	78	0.0548824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.035e-05	3.18e-05	1.419e-05	6.712e-06	1.076e-05	2.75e-06	7.6e-07	1.79e-06	6.7e-07	0	0	0	0	0	0	1.076e-05	5.308e-05	0	2.547e-05	0.0002	1.665e-05	3.465e-05	8.239e-05	6.77e-06	2.88e-06	6.2e-06	2.32e-06	0	0	8.239e-05	0	0	0	0	3.737e-05	0	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.09901434	0.17941	T	.	.	.	.	.	.	.	.	.	0.06298223924897405	0.06237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234777	0.03226	T	.	.	.	.	.	.	.	.	-7.153	0.55143	T	.	.	0.178	0.38889	B	.;.	.;.	1.495620	0.19233	14.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.159000	0.31360	-4.775000	0.01992	0.470000	0.21925	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3072.09	698	chr7	100953539	.	C	A	3072.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.712;DP=4439;ExcessHet=0.4139;FS=1.725;MLEAC=1;MLEAF=0.083;MQ=56.66;MQRankSum=-2.329;QD=2.23;ReadPosRankSum=-0.527;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:849,0:849:99:.:.:0,120,1800:.	5	0	1	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4486.23	721	chr7	100953548	.	C	T	4486.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=4439;ExcessHet=3.1439;FS=0.937;MLEAC=1;MLEAF=0.083;MQ=55.42;MQRankSum=-6.083;QD=1.39;ReadPosRankSum=2.16;SOR=0.901	GT:AD:DP:GQ:PL	0/0:794,0:857:99:255,2645,35985	5	0	1	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1194.83	740	chr7	100953580	.	T	G	1194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.449;DP=4385;ExcessHet=0;FS=6.275;MLEAC=1;MLEAF=0.083;MQ=55.81;MQRankSum=-3.608;QD=1.73;ReadPosRankSum=2.53;SOR=1.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:816,0:816:99:.:.:0,120,1800:.	5	0	1	0
chr7	100954855	100954855	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3076G:p.T1026A	.	807	709	4	2	0	8	0.0056101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	5.884e-05	7.191e-06	0	.	0	0	.	.	0	0	0	0	4.431e-05	0	0	0	0	2.25e-05	0.0015	0	4.61e-05	0.0002	5.98e-06	2.66e-06	.	.	0	0	7.67e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	0.088	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01825	.	.	.	.	.	.	.	0.08561024	0.14470	T	.	.	.	.	.	.	.	.	.	0.0396548642750254	0.03911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-7.48	0.57470	T	.	.	0.126	0.26669	B	.;.	.;.	-0.093702	0.03679	0.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.087000	0.11181	-2.695000	0.03458	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	291	chr7	100954855	.	A	G	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.62;DP=2024;ExcessHet=0;FS=33.676;MLEAC=1;MLEAF=0.083;MQ=58.53;MQRankSum=-14.42;QD=0.57;ReadPosRankSum=-0.132;SOR=3.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:413,0:413:99:.:.:0,120,1800:.	5	0	1	0
chr7	100954858	100954858	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3079G:p.T1027A	.	1002	512	6	2	0	10	0.00967118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253536811	2.526e-05	0.0001	2.204e-05	2.837e-05	0.0001	1.149e-05	7.74e-06	4.5e-06	2.25e-06	0.0001	0	0	0	4.49e-05	0	1.693e-05	5.48e-05	0.0001	3.283e-05	0.0029	2.153e-05	4.451e-05	0.0003	8.72e-06	4.42e-06	.	.	0	0	0.0001	0	0.0003	0	0	2.354e-05	0	0	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.02559	.	.	.	.	.	.	.	0.08334914	0.13855	T	.	.	.	.	.	.	.	.	.	0.04319746289071145	0.04264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183182	0.01877	T	.	.	.	.	.	.	.	.	-7.357	0.56600	T	.	.	0.113	0.22208	B	.;.	.;.	-0.076276	0.03784	0.796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.178000	0.31590	-5.132000	0.01836	-0.764000	0.03494	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	226.9	291	chr7	100954858	.	A	G	226.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5.59;DP=2032;ExcessHet=0;FS=33.811;MLEAC=1;MLEAF=0.167;MQ=58.54;MQRankSum=-14.16;QD=0.7;ReadPosRankSum=0.443;SOR=3.178	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:413,0:413:0:.:.:0,0,10249:.	2	0	1	3
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	904.9	291	chr7	100954873	.	G	A	904.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.092;DP=2116;ExcessHet=0;FS=25.256;MLEAC=1;MLEAF=0.167;MQ=58.58;MQRankSum=-11.98;QD=2.66;ReadPosRankSum=-0.197;SOR=2.146	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:425,0:425:0:.:.:0,0,11041:.	2	0	1	3
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1373.68	298	chr7	100955762	.	C	A	1373.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.104;DP=2777;ExcessHet=0;FS=10.797;MLEAC=1;MLEAF=0.125;MQ=58.89;MQRankSum=-14.93;QD=3.76;ReadPosRankSum=-4.624;SOR=1.34	GT:AD:DP:GQ:PL	0/0:579,0:579:82:0,82,14743	3	0	1	2
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2198.25	298	chr7	100955779	.	C	G	2198.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.246;DP=3137;ExcessHet=0;FS=7.027;MLEAC=2;MLEAF=0.5;MQ=58.35;MQRankSum=-17.18;QD=5.44;ReadPosRankSum=-3.231;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:652,0:652:0:.:.:0,0,5413:.	1	0	1	4
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2597.25	298	chr7	100955783	.	C	A	2597.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.42;DP=3221;ExcessHet=0;FS=6.583;MLEAC=2;MLEAF=0.5;MQ=58.13;MQRankSum=-17.3;QD=6.4;ReadPosRankSum=-2.495;SOR=1.187	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:681,0:681:0:.:.:0,0,3512:.	1	0	1	4
chr7	100956002	100956002	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4223A:p.T1408K	.	737	766	17	2	0	21	0.0135222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031611977	8.417e-05	0.0007	8.521e-05	8.322e-05	0.0004	6e-05	5.198e-05	0.0002	0.0001	0	5.954e-05	0	0	7.546e-05	0	8.937e-05	4.724e-05	0.0004	0.0005	0.0088	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0006	0.0003	0	0.0013	0	0.0006	0.0010	0.0019	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	0.055023044	0.05949	T	.	.	.	.	.	.	.	.	.	0.055842908081126706	0.05525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275372	0.05417	T	.	.	.	.	.	.	.	.	-8.63	0.65287	D	.	.	0.197	0.41947	B	.;.	.;.	0.269045	0.06469	2.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	-6.448000	0.01396	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1011.83	644	chr7	100956002	.	C	A	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.625;DP=3618;ExcessHet=0;FS=1.802;MLEAC=1;MLEAF=0.083;MQ=58.29;MQRankSum=-13.23;QD=2.15;ReadPosRankSum=-3.79;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:770,0:770:99:.:.:0,120,1800:.	5	0	1	0
chr7	100959239	100959239	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C7460G:p.T2487R	.	402	1105	15	0	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.000399361	0.0009	0	8.82e-05	0.0012	0	0.0002	0	0.0052	0.0006727	104	154602	rs199829729	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0005	0.0042	0.0041	5.975e-05	0	0.0021	0.0010	0	0.0005	0.0002	0.0005	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.807e-05	0	6.53e-05	0.0026	0.0002	0	0	0.0002	0	0.0029	.	.	.	0.008	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9635	0.38507	T	0.013	0.04938	T	6	0.0033223033	0.00057	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.04254950817714387	0.04199	.	.	.	.	.	.	.	.	-0.292981	0.09339	T	-0.658623	0.08360	T	0.0125464564189315	0.00208	T	0.354465	0.09893	T	0.06280327	0.13156	0.06946024	0.14638	0.06280327	0.13155	0.06946024	0.14637	-7.582	0.58185	D	.	.	0.194	0.41387	B	.;.	.;.	0.900237	0.12741	9.261	0.86711192404425053	0.16721	0.02290	0.06594	N	AEFGI	0.068670	0.13557	N	-1.03686950376846	0.07848	0.3659505	-1.23464434807009	0.05363	0.255304	0.999978822832524	0.50053	0.69289	0.55638	0	0.019298	0.00044	3	0.517114	0.09559	2	0.683672	0.66515	0	.	.	1.97	-3.46	0.04465	-1.064000	0.03572	-0.543000	0.08571	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.397:0.3407:0.2623	4.397	0.10799	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3803.83	308	chr7	100959239	.	C	G	3803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.178;DP=2427;ExcessHet=0;FS=2.546;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=2.15;QD=9.19;ReadPosRankSum=0.598;SOR=0.883	GT:AD:DP:GQ:PL	0/0:414,0:414:99:0,120,1800	5	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	29139.0	498	chr7	100960582	.	T	*	29139.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.604;DP=3400;ExcessHet=11.5949;FS=1.104;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.9;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:366,0:640:99:0|1:100960582_T_A:10307,11409,26625:100960582	4	0	2	0
chr7	100994359	100994359	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3796A:p.V1266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00658461216505	.	0.000199681	0.0006	0	0	0	0	0	0	0.0014	3.84e-05	1	26028	rs569676301	0.0003	0.0006	0.0001	0.0004	0.0033	0.0002	0.0002	0.0029	0.0028	0	0.0002	6.778e-05	0	0	0.0004	3.808e-05	0.0001	0.0033	2.005e-05	0.0001	0	4.159e-05	0.0001	0	0	.	.	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.085	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.76	0.11515	T	-0.26	0.11185	N	0.092	0.09066	-0.9616	0.38877	T	0.013	0.05081	T	7	0.008494794	0.00192	T	0.006585	0.17358	T	0.014	0.01968	0.15	0.05339	0.0138822411134	0.00435	0.0011260988011681033	0.00103	.	.	0.547454237938	0.45498	T	0.00352	0.02930	T	-0.361631	0.04039	T	-0.757234	0.03212	T	0.0116841371343507	0.00179	T	0.365963	0.08520	T	0.045228884	0.07368	0.06385276	0.12709	0.045228884	0.07368	0.06385276	0.12709	-5.669	0.45085	T	.	.	0.153	0.34711	B	.;.	.;.	-0.223068	0.02976	0.444	0.42846047119387515	0.03186	0.00083	0.00561	N	AEFI	0.028427	0.02501	N	-0.927504170881533	0.10203	0.4864205	-1.09601634957574	0.07778	0.3796968	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.880000	0.01719	-8.641000	0.00936	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3321:0.0:0.6678:0.0	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	179.34	59	chr7	100994359	.	G	A	179.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.83;DP=105;ExcessHet=0;FS=15.563;MLEAC=2;MLEAF=0.167;MQ=25.85;MQRankSum=0.967;QD=19.93;ReadPosRankSum=-0.842;SOR=4.161	GT:AD:DP:GQ:PL	1/1:0,3:3:9:95,9,0	4	1	1	0
chr7	100994762	100994762	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4199A:p.T1400N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00707413867358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.518e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.185e-05	3.078e-05	4.125e-05	0	4.378e-05	0	0	.	.	0	0	0	0	0	0	0	4.378e-05	0	0	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.74	0.20791	N	0.153	0.15749	-0.9382	0.42900	T	0.014	0.05608	T	6	0.08910248	0.15404	T	0.007074	0.18731	T	0.009	0.00846	0.131	0.03577	0.0138822411134	0.00435	0.003347394202168646	0.00312	.	.	0.522460341454	0.41973	T	0.002777	0.02166	T	-0.333952	0.05817	T	-0.717475	0.04918	T	0.0521372865109686	0.05870	T	0.286771	0.06705	T	0.13070439	0.30490	0.13040441	0.31335	0.13070439	0.30489	0.13040441	0.31334	-8.383	0.63652	D	.	.	0.185	0.40065	B	.;.	.;.	1.424381	0.18417	13.72	0.31469477507435145	0.01775	0.00138	0.00846	N	AEFI	0.029318	0.02744	N	-1.05620994572844	0.07466	0.3469244	-1.23894304148428	0.05297	0.2520353	1.36650798488973E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-0.958	0.09819	0.918000	0.28299	-0.287000	0.10223	-0.724000	0.03774	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	118.83	28	chr7	100994762	.	C	A	118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.193;DP=236;ExcessHet=0;FS=10.326;MLEAC=1;MLEAF=0.083;MQ=25.41;MQRankSum=-0.404;QD=2.29;ReadPosRankSum=-1.806;SOR=1.719	GT:AD:DP:GQ:PL	0/1:41,11:52:99:129,0,960	5	0	1	0
chr7	100996634	100996634	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G6071A:p.S2024N	.	508	989	25	0	0	25	0.0124813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0140274259014	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs201009895	5.919e-05	0.0006	4.745e-05	7.066e-05	0.0006	4.615e-05	4.185e-05	0.0002	0.0001	0.0001	0.0004	0.0003	0.0002	0.0002	0.0006	1.515e-05	0	0.0002	0.0004	0.0023	0.0003	0.0005	0.0015	0.0003	0.0003	0.0010	0.0008	0.0005	0	0.0015	0	0.0006	0	0	0.0002	0.0005	0.0009	0.0	0.91255	D	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.68	0.12371	T	-0.86	0.23372	N	0.092	0.07125	-0.9669	0.37834	T	0.016	0.06569	T	7	0.093948334	0.16667	T	0.014027	0.33868	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.011766040700622862	0.01136	.	.	0.429456561804	0.29133	T	0.002718	0.02115	T	-0.345439	0.05020	T	-0.733975	0.04149	T	0.0890976508453012	0.11110	T	0.294071	0.05429	T	0.09936937	0.23451	0.10994819	0.26504	0.09936937	0.23451	0.10994819	0.26504	-9.028	0.74568	D	.	.	0.456	0.62523	A	.;.	.;.	0.209536	0.05930	2.373	0.59872127429762345	0.06327	0.00265	0.01446	N	AEFI	0.043864	0.06987	N	-0.914581382338609	0.10501	0.5020716	-1.0763760444893	0.08167	0.4003712	1.18008797771581E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.282	0.12241	-0.717000	0.05088	-0.805000	0.07358	-0.596000	0.04633	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4236:0.5764:0.0	4.461	0.11085	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.83	36	chr7	100996634	.	G	A	35.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.443;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=36.93;MQRankSum=-3.933;QD=1;ReadPosRankSum=-0.664;SOR=0.035	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,117,1755	5	0	1	0
chr7	101000107	101000107	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9544A:p.A3182T	.	336	1141	45	0	0	45	0.0193382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0257733312218	0.0009	.	0.0061	0.0022	0	0	0.0096	0.0061	0.0043	0.0072	3.84e-05	1	26028	rs371708947	0.0012	0.0091	0.0012	0.0012	0.0039	0.0011	0.0011	0.0026	0.0022	0.0001	0.0006	0.0003	2.798e-05	0.0027	0.0039	0.0012	0.0010	0.0010	0.0017	0.0093	0.0015	0.0018	0.0026	0.0015	0.0014	0.0023	0.0022	0.0004	0	0.0004	0.0003	0	0.0036	0.0072	0.0026	0.0010	0.0017	0.532	0.06980	T	0.459	0.12632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.65	0.12676	T	0.88	0.01813	N	0.052	0.08925	-0.9456	0.41715	T	0.012	0.04747	T	6	0.005135894	0.00111	T	0.025773	0.48722	D	0.003	0.00094	.	.	0.0297737177859	0.01360	0.06795878814125544	0.06733	.	.	0.466616332531	0.34217	T	0.003395	0.02798	T	-0.71827	0.00028	T	-0.834601	0.01184	T	0.013651278538142	0.00254	T	0.280872	0.04893	T	0.042773437	0.06547	0.081971824	0.18671	0.042773437	0.06546	0.081971824	0.18670	-5.278	0.39724	T	.	.	0.118	0.28892	B	.;.	.;.	-0.806695	0.01094	0.049	0.9243322916297374	0.21852	0.00027	0.00265	N	AEFBI	0.018528	0.00568	N	-1.18653740619796	0.05203	0.2366343	-1.35108449020083	0.03793	0.1776613	1.38392605320333E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	-0.964	0.09799	-0.316000	0.08112	-3.396000	0.02819	-0.376000	0.05418	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025499	0.015625	0.042056	0.044304	0.000000	0.031250	0.010000	0.009259	0.08333	10749.8	1316	chr7	101000107	.	G	A	10749.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.272;DP=9867;ExcessHet=0;FS=1.859;MLEAC=1;MLEAF=0.083;MQ=49.1;MQRankSum=-1.972;QD=8.19;ReadPosRankSum=-0.502;SOR=0.542	GT:AD:DP:GQ:PL	0/0:1827,0:1827:99:0,120,1800	5	0	1	0
chr7	101002843	101002843	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12280T:p.P4094S	.	653	864	2	3	0	8	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00373543314567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	3.377e-06	4.209e-06	0	0.0005	3.5e-07	1.3e-07	8.623e-05	3.587e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.93	0.02777	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.5	0.14531	T	-1.07	0.27876	N	0.111	0.12341	-0.9495	0.41058	T	0.012	0.04653	T	7	0.071789205	0.10630	T	0.003735	0.08651	T	0.005	0.00259	0.121	0.02793	0.0401082797425	0.02173	0.013883061828667234	0.01345	.	.	0.343907296658	0.17021	T	0.003324	0.02728	T	-0.350173	0.04716	T	-0.740776	0.03857	T	0.0275614133307057	0.01625	T	0.210779	0.02928	T	0.024016328	0.01194	0.041439056	0.04711	0.024016328	0.01193	0.041439056	0.04711	-4.653	0.32830	T	.	.	0.119	0.27791	B	.;.	.;.	0.540067	0.09088	5.870	0.26196593007923519	0.01243	0.00195	0.01126	N	AEFI	0.034023	0.04142	N	-1.21927330450868	0.04720	0.2136671	-1.38831149324315	0.03376	0.1573354	1.69384473227754E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.9	-1.23	0.08977	0.119000	0.15456	-10.069000	0.00743	-0.648000	0.04400	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4763:0.0:0.5237	3.798	0.08265	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3364.83	99	chr7	101002843	.	C	T	3364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.301;DP=1179;ExcessHet=0;FS=3.446;MLEAC=1;MLEAF=0.083;MQ=57.37;MQRankSum=-0.162;QD=13.2;ReadPosRankSum=0.19;SOR=0.568	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	5	0	1	0
chr7	101003281	101003281	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12718A:p.V4240I	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00574796016007	.	.	0.0017	0	0	0.0059	0	0.0005	0	0.0038	0.0001153	3	26028	rs762695880	0.0002	0.0007	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0.0001	0.0001	7.961e-05	0.0003	8.592e-05	0.0004	0.0002	0.0001	0.0013	0.0003	0.0005	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	0.0001	0	0.0001	0.0006	0	0.0001	0	0.0003	0.0005	0.0025	0.528	0.07093	T	0.494	0.11407	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.76	0.11515	T	0.05	0.07299	N	0.031	0.00825	-0.9657	0.38073	T	0.013	0.05081	T	7	0.006115705	0.00138	T	0.005748	0.14922	T	0.004	0.00165	.	.	0.0138822411134	0.00435	0.0016236875894308192	0.00150	.	.	0.499606072903	0.38773	T	0.003587	0.02990	T	-0.427465	0.01536	T	-0.851801	0.00937	T	0.00589624420234789	0.00065	T	0.183882	0.01946	T	0.020965537	0.00675	0.026132151	0.00686	0.020965537	0.00675	0.026132151	0.00686	-3.812	0.20984	T	.	.	0.085	0.13268	B	.;.	.;.	-0.531976	0.01766	0.134	0.31265973891078286	0.01753	0.00131	0.00809	N	AEFBI	0.031370	0.03344	N	-1.74949833397045	0.00681	0.02937943	-1.90786987961224	0.00472	0.02091665	6.16072488393289E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.801	-0.17	0.12681	-3.350000	0.00557	-20.000000	0.00162	-3.460000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.601:0.2209:0.1781	4.486	0.11205	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	862.83	323	chr7	101003281	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.34;DP=1133;ExcessHet=0;FS=0.775;MLEAC=1;MLEAF=0.083;MQ=40.01;MQRankSum=-0.968;QD=2.1;ReadPosRankSum=2.47;SOR=0.861	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	5	0	1	0
chr7	101013966	101013966	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon9:c.T15692C:p.I5231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0104223073806	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs369951785	5.346e-05	5.062e-05	4.278e-05	6.442e-05	0.0004	4.356e-05	3.99e-05	6.163e-05	3.857e-05	3.166e-05	0	0	0	0	0.0004	5.377e-05	0.0001	7.596e-05	3.943e-05	3.94e-05	3.856e-05	4.035e-05	8.822e-05	1.716e-05	1.13e-05	3.763e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.074	0.34621	T	0.173	0.30143	T	.	.	.	.	.	.	0.647761	0.05905	N	1.259530	1	0.08975	N	0.2	0.09183	N	0.94	0.43672	T	-1.0	0.26422	N	0.123	0.15328	-1.0201	0.23682	T	0.050	0.21222	T	8	0.069351286	0.09939	T	0.010422	0.26937	T	0.013	0.01715	.	.	0.0482279557977	0.04254	0.7772171344829375	0.77671	.	.	0.344941675663	0.17175	T	0.00456	0.03968	T	-0.540119	0.00334	T	-0.721471	0.04725	T	0.017502619367934	0.00485	T	0.336666	0.07200	T	0.041218217	0.06030	0.052898753	0.08807	0.041218217	0.06030	0.052898753	0.08807	-5.276	0.39705	T	.	.	0.251	0.48531	B	.;.	.;.	0.712497	0.10815	7.495	0.28143278524012461	0.01431	0.00305	0.01619	N	AEFDBI	0.034875	0.04397	N	-1.26536683678459	0.04100	0.1844128	-1.4306362240064	0.02950	0.1367013	0.12576338254589	0.16985	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.86	-3.94	0.03856	-0.579000	0.05927	-0.579000	0.08386	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6958:0.0:0.3042	8.829	0.34233	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	930.83	35	chr7	101013966	.	T	C	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.557;DP=240;ExcessHet=0;FS=0.994;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.547;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	5	0	1	0
chr7	101034592	101034592	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3176T:p.T1059M	.	416	1069	37	0	0	37	0.0170115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	.	0.0067	0.0017	0.0048	0.0001	0.0009	0.0083	0.0088	0.0103	0.0057114	883	154602	rs144904263	0.0073	0.0083	0.0072	0.0075	0.0200	0.0072	0.0072	0.0170	0.0159	0.0013	0.0043	0.0176	2.534e-05	0.0011	0.0200	0.0077	0.0088	0.0088	0.0042	0.0063	0.0047	0.0037	0.0068	0.0039	0.0038	0.0063	0.0061	0.0009	0.0011	0.0024	0.0143	0	0.0006	0.0105	0.0068	0.0076	0.0051	0.012	0.54683	D	.	.	.	0.968	0.56581	D	0.105	0.31087	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.26	0.02538	T	-0.77	0.21429	N	0.047	0.01911	-0.8863	0.49248	T	0.004	0.01192	T	9	0.0051009655	0.00110	T	.	.	.	0.095	0.27398	.	.	0.0138822411134	0.00435	0.002995186224735075	0.00279	.	.	0.21727925539	0.01159	T	0.017352	0.14172	T	-0.692104	0.00041	T	-0.760963	0.03078	T	0.0075188941836622	0.00087	T	0.435556	0.11926	T	0.020548632	0.00617	0.035751507	0.02887	0.020548632	0.00616	0.035751507	0.02886	-6.792	0.52500	T	.	.	0.097	0.15743	B	.	.	0.283147	0.06599	3.091	0.37993982564826517	0.02536	0.00308	0.01632	N	AEFGBI	0.039571	0.05765	N	-1.39427633929123	0.02691	0.1191954	-1.57979180434879	0.01779	0.08096282	0.00153576149883892	0.08622	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.481	-0.962	0.09806	0.275000	0.18461	-9.209000	0.00852	-0.650000	0.04392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3323:0.0:0.6677	5.534	0.16292	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	0.016913	0.005051	0.005435	0.045082	0.000000	0.043103	0.027439	0.011364	0.08333	6086.83	33	chr7	101034592	.	C	T	6086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.55;DP=4912;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.083;MQ=59.32;MQRankSum=-3.172;QD=5.44;ReadPosRankSum=-1.707;SOR=0.678	GT:AD:DP:GQ:PL	0/0:1200,0:1200:99:0,120,1800	5	0	1	0
chr7	102317213	102317213	G	A	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon7:c.G1213A:p.E405K,SH2B2:NM_001359229:exon7:c.G1213A:p.E405K,SH2B2:NM_001359230:exon7:c.G1210A:p.E404K,SH2B2:NM_001359231:exon7:c.G1210A:p.E404K,SH2B2:NM_020979:exon7:c.G1342A:p.E448K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0737424495379	.	.	4.498e-05	0	0.0002	0	0	0	0.0020	9.217e-05	1.94e-05	3	154602	rs782777792	1.442e-05	1.505e-05	1.502e-05	1.382e-05	6.821e-05	9.27e-06	7.87e-06	2.217e-05	1.447e-05	0	6.821e-05	0	0	0	0	1.172e-05	0	5.878e-05	6.574e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.436e-05	0	0	0	0	0.165	0.23271	T	0.317	0.19304	T	.	.	.	.	.	.	0.000294	0.46274	D	0.216956	.	.	.	.	.	.	0.9	0.45248	T	-1.33	0.33197	N	0.164	0.17278	-0.8879	0.49113	T	0.072	0.29098	T	9	0.1578736	0.29700	T	0.073742	0.71866	D	0.146	0.38789	.	.	0.646995065335	0.64406	0.37465928050806746	0.37379	0.17292932455	0.19480	0.37109130621	0.20988	T	.	.	.	-0.259969	0.12904	T	-0.412211	0.31971	T	0.390815943479538	0.28596	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	-13.728	0.92139	D	.	.	0.084	0.09868	B	.	.	2.457454	0.31654	18.81	0.99659404803556573	0.77820	0.80393	0.40043	D	AEFDBCI	0.173627	0.30071	N	-0.482557271336236	0.22653	1.211069	-0.585874490463021	0.19861	1.06751	0.687896045603733	0.22555	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	3.8	0.85	0.18119	1.589000	0.36253	3.064000	0.36172	0.675000	0.71128	0.847000	0.30396	0.999000	0.35428	0.002000	0.04165	0.0849:0.2956:0.6194:0.0	8.359	0.31508	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	743.83	34	chr7	102317213	.	G	A	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.775;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1037	5	0	1	0
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q,LRWD1:NM_152892:exon5:c.G578A:p.R193Q	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001665	0.005435	0.000000	0.000000	0.000000	0.010000	0.000000	0.004167	0.08333	831.83	36	chr7	102467723	.	G	A	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=252;ExcessHet=0;FS=2.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.337;SOR=0.919	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1472	5	0	1	0
chr7	102468293	102468293	C	G	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon7:c.C379G:p.L127V,LRWD1:NM_152892:exon7:c.C835G:p.L279V	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.158904088497	0.0018	0.000599042	0.0035	0.0004	0.0003	0	0.0024	0.0049	0	0.0035	0.0024321	376	154602	rs148425285	0.0025	0.0025	0.0024	0.0025	0.0031	0.0024	0.0024	0.0028	0.0027	0.0002	0.0006	0.0318	2.524e-05	0.0015	0.0017	0.0019	0.0049	0.0031	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0018	0.0003	0	0.0007	0.0276	0	0.0008	0	0.0019	0.0028	0.0035	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	2.16	0.60381	M	-0.84	0.74265	T	-1.36	0.33798	N	0.524	0.55366	-0.2259	0.76995	T	0.487	0.80491	T	10	0.008157939	0.00185	T	0.158904	0.83920	D	0.469	0.76355	.	.	0.833474424401	0.83189	0.6904765006523477	0.68987	0.338710026487	0.35836	0.575519323349	0.49455	T	0.052061	0.29053	T	-0.277646	0.10920	T	-0.17496	0.56987	T	0.0400554426226445	0.03700	T	0.876112	0.69967	D	0.44136426	0.63490	0.358931	0.61360	0.44136426	0.63491	0.358931	0.61360	-9.934	0.73516	D	.	.	0.415	0.68198	A	.;.	.;.	3.826703	0.55292	23.6	0.99804638777583465	0.88906	0.95416	0.64634	D	AEFDBCI	0.735877	0.68155	D	0.321266493118608	0.57241	3.89076	0.301940180032929	0.55653	3.728212	0.999998830705925	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.04	4.17	0.48303	4.964000	0.63410	3.317000	0.37513	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9223:0.0:0.0777	12.947	0.57776	524	0.74079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	362.83	34	chr7	102468293	.	C	G	362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.332;DP=171;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=-0.933;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:60:.:.:0,60,876:.	5	0	1	0
chr7	103561701	103561701	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon36:c.G5360A:p.R1787Q,RELN:NM_173054:exon36:c.G5360A:p.R1787Q	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	991867	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.202	0.0171510248389	.	.	4.133e-05	0	0	0	0	3.005e-05	0	0.0002	3.23e-05	5	154602	rs372887562	3.558e-05	3.557e-05	2.587e-05	4.538e-05	0.0005	2.763e-05	2.502e-05	0.0003	0.0003	2.988e-05	2.238e-05	3.827e-05	2.521e-05	0	0	7.195e-06	1.656e-05	0.0005	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	9.429e-05	0	1.471e-05	0	0	0.227	0.18498	T	0.132	0.34477	T	0.998	0.73220	D	0.963	0.70837	D	0.000001	0.84330	D	0.055160	0.998545	0.45064	D	-0.4	0.02994	N	2.73	0.11839	T	-0.79	0.21860	N	0.462	0.52386	-1.0636	0.10878	T	0.055	0.23375	T	10	0.33844578	0.50949	T	0.017151	0.38730	T	0.202	0.48754	0.444	0.50139	0.451230547186	0.44747	0.3560523682695205	0.35519	0.740407204184	0.63230	0.477631121874	0.35731	T	0.059062	0.31014	T	-0.373927	0.03400	T	-0.478705	0.24583	T	0.226812764900873	0.21799	T	0.884712	0.60854	D	0.19714502	0.41568	0.20930566	0.45269	0.19714502	0.41568	0.20930566	0.45268	-3.823	0.21149	T	0.11026185065582604	0.09299	0.091	0.13080	B	.;.;.	.;.;.	4.098068	0.61082	24.3	0.99941530789399236	0.99797	0.96294	0.68438	D	AEFBI	0.704541	0.66022	D	0.477462838738036	0.65777	4.865245	0.56648780603224	0.72554	5.82791	0.984288560987437	0.30693	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	4.414000	0.59555	4.097000	0.41842	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	20.191	0.98231	897	0.25382	EGF-like domain;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1415.83	34	chr7	103561701	.	C	T	1415.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.26;DP=297;ExcessHet=0;FS=0.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.188;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	5	0	1	0
chr7	103654164	103654164	T	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon13:c.A1483G:p.I495V,RELN:NM_173054:exon13:c.A1483G:p.I495V	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	207451	Epilepsy,_familial_temporal_lobe,_1|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_specified|not_provided	MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00608343923033	0.0002	.	0.0001	9.625e-05	0	0	0	0.0002	0.0011	6.061e-05	8.41e-05	13	154602	rs150850005	7.194e-05	7.319e-05	5.182e-05	9.226e-05	0.0044	6.057e-05	5.604e-05	0.0030	0.0026	0.0002	0.0007	0	0	0	0.0044	2.702e-05	0.0002	2.319e-05	0.0003	0.0003	0.0002	0.0005	0.0028	0.0003	0.0002	0.0021	0.0019	0	0	0.0028	0	0	0	0.0068	8.829e-05	0	0	0.304	0.14497	T	0.653	0.06666	T	0.004	0.12183	B	0.007	0.12992	B	0.137452	0.18412	N	0.568373	1	0.08975	N	0.205	0.09354	N	1.95	0.22474	T	-0.11	0.08653	N	0.171	0.18649	-0.9836	0.34164	T	0.024	0.10284	T	10	0.051508456	0.05044	T	0.006083	0.15905	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.2419924119947583	0.24113	0.141360574457	0.15935	0.354771971703	0.18622	T	0.061614	0.31699	T	-0.531486	0.00376	T	-0.614207	0.11645	T	0.0109685441340354	0.00158	T	0.746525	0.36724	T	0.028660143	0.02237	0.0266236	0.00762	0.029019294	0.02329	0.028409708	0.01075	-2.839	0.08548	T	0.15988244192993212	0.19470	0.081	0.08368	B	.;.;.	.;.;.	0.731762	0.11013	7.668	0.60527729194744773	0.06485	0.52558	0.29160	D	AEFBI	0.251969	0.37174	N	-0.750554782871795	0.14618	0.7296873	-0.651231832265375	0.18185	0.9703737	0.00456817660619692	0.10618	0.648238	0.45900	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	0.581	0.16590	1.128000	0.30982	1.598000	0.27567	0.609000	0.47794	0.790000	0.29595	0.032000	0.21310	0.856000	0.40543	0.1116:0.063:0.3741:0.4513	4.728	0.12331	859	0.33891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.08333	868.83	58	chr7	103654164	.	T	C	868.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.283;DP=218;ExcessHet=0;FS=10.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.135;SOR=0.129	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1197	5	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5911.96	133	chr7	105613788	.	C	T	5911.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.57;DP=523;ExcessHet=3.1439;FS=1.103;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.749;SOR=0.803	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1143,0,1244	2	0	4	0
chr7	107298193	107298193	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A548G:p.H183R,COG5:NM_001379515:exon7:c.A692G:p.H231R,COG5:NM_001161520:exon12:c.A1262G:p.H421R,COG5:NM_001379511:exon12:c.A1262G:p.H421R,COG5:NM_001379512:exon12:c.A1262G:p.H421R,COG5:NM_001379513:exon12:c.A1262G:p.H421R,COG5:NM_001379514:exon12:c.A1262G:p.H421R,COG5:NM_006348:exon12:c.A1262G:p.H421R,COG5:NM_181733:exon12:c.A1262G:p.H421R	Congenital disorder of glycosylation, type IIi	8	1477	34	3	0	40	0.0133601	.	.	.	309238	not_provided|COG5-congenital_disorder_of_glycosylation|COG5-related_disorder	MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0032	0.00359425	0.0034	0.0008	0.0021	0	0.0008	0.0044	0.0088	0.0046	0.0033635	520	154602	rs35393416	0.0039	0.0040	0.0038	0.0041	0.0184	0.0039	0.0038	0.0156	0.0145	0.0005	0.0024	0.0031	2.524e-05	0.0014	0.0184	0.0042	0.0048	0.0049	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0006	0	0.0027	0.0037	0	0.0004	0.0102	0.0046	0.0038	0.0041	0.345	0.15303	T	0.374	0.16280	T	0.006	0.15535	B	0.01	0.19966	B	0.045775	0.23504	N	0.497022	1	0.08975	N	0.895	0.22405	L	0.67	0.52187	T	-0.68	0.19720	N	0.306	0.34552	-1.0478	0.15016	T	0.057	0.23791	T	10	0.0037671328	0.00070	T	.	.	.	0.043	0.11576	.	.	0.526539220858	0.52300	0.28366215763521374	0.28279	0.0637909203938	0.07108	0.374383628368	0.21458	T	0.004263	0.03670	T	-0.512833	0.00484	T	-0.508472	0.21472	T	0.0047717878686339	0.00051	T	0.633837	0.24812	T	0.04289514	0.06590	0.047563996	0.06880	0.03286603	0.03394	0.04435043	0.05725	-2.74	0.08028	T	.	.	0.073	0.05623	B	.;.;.	.;.;.	1.314671	0.17179	13.01	0.65716210919453166	0.07851	0.43873	0.27194	N	AEFGI	0.123842	0.23963	N	-0.794909827317595	0.13442	0.6622209	-0.697013875268555	0.17035	0.903974	0.826393147105066	0.24614	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.633917	0.49826	0	.	.	5.68	4.52	0.54797	1.859000	0.39058	3.534000	0.38969	-0.128000	0.13240	0.744000	0.29069	1.000000	0.68203	0.884000	0.42379	0.1327:0.0:0.1391:0.7282	8.252	0.30891	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.005435	0.005848	0.000000	0.025862	0.030488	0.011364	0.08333	851.83	34	chr7	107298193	.	T	C	851.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.38;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	5	0	1	0
chr7	108095332	108095332	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon12:c.G1366A:p.D456N,LAMB4:NM_001318047:exon12:c.G1366A:p.D456N,LAMB4:NM_001318048:exon12:c.G1366A:p.D456N,LAMB4:NM_007356:exon12:c.G1366A:p.D456N	.	426	1093	3	0	0	3	0.00137049	.	.	.	3701359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00618760759927	.	.	1.7e-05	0	0	0	0	3.077e-05	0	0	1.29e-05	2	154602	rs754838790	2.125e-05	2.326e-05	1.637e-05	2.617e-05	2.52e-05	1.523e-05	1.327e-05	1.38e-05	1.153e-05	0	2.236e-05	0.0001	2.52e-05	0	0	2.073e-05	3.316e-05	1.161e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.903	0.06204	T	1.0	0.07150	T	0.001	0.07471	B	0.002	0.06944	B	0.034079	0.24817	N	0.337088	0.996661	0.22942	N	-0.585	0.02270	N	0.11	0.61208	T	1.08	0.01595	N	0.048	0.03613	-1.0233	0.22638	T	0.062	0.25923	T	10	0.0283041	0.00964	T	0.006188	0.16229	T	0.077	0.22490	0.61	0.74300	0.0297737177859	0.01360	0.40406696655756613	0.40322	0.0625614042726	0.06963	0.232387810946	0.02150	T	0.045294	0.27077	T	-0.364864	0.03863	T	-0.631428	0.10307	T	0.0295007366988017	0.01913	T	0.633137	0.34984	T	0.042776063	0.06550	0.04172797	0.04809	0.042776063	0.06550	0.04172797	0.04809	-4.798	0.34568	T	.	.	0.059	0.01059	B	.;.;.	.;.;.	-0.112445	0.03568	0.690	0.82689351425872326	0.14323	0.00439	0.02144	N	AEFDBHCIJ	0.033549	0.04004	N	-1.38572197392753	0.02771	0.1228406	-1.36172784030514	0.03670	0.1716516	0.999996806821361	0.74766	0.428477	0.06694	0	0.48864	0.07623	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	4.79	-4.93	0.02839	-0.525000	0.06302	-2.553000	0.03616	-0.177000	0.10537	0.043000	0.21118	0.000000	0.08366	0.984000	0.60418	0.1145:0.44:0.0:0.4455	7.473	0.26531	700	0.57880	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	318.83	34	chr7	108095332	.	C	T	318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=207;ExcessHet=0;FS=3.776;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.42;SOR=1.589	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1345	5	0	1	0
chr7	108497549	108497549	T	G	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon5:c.A1387C:p.K463Q,PNPLA8:NM_001256009:exon5:c.A1387C:p.K463Q,PNPLA8:NM_001256010:exon5:c.A1087C:p.K363Q,PNPLA8:NM_001256007:exon6:c.A1387C:p.K463Q,PNPLA8:NM_001256011:exon6:c.A1087C:p.K363Q,PNPLA8:NM_015723:exon7:c.A1387C:p.K463Q	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00944348936759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.50676	T	0.044	0.51112	D	0.362	0.33945	B	0.156	0.34472	B	0.000003	0.62929	D	0.099805	0.99892	0.45696	D	1.17	0.29769	L	2.29	0.17113	T	-2.3	0.51157	N	0.342	0.44952	-1.0992	0.04189	T	0.038	0.16203	T	10	0.33208972	0.50420	T	0.009443	0.24739	T	0.093	0.26882	0.503	0.59615	0.296679040009	0.29266	0.7562293205539602	0.75570	0.183562545926	0.20647	0.604503631592	0.53540	T	0.381129	0.74352	T	-0.170125	0.25216	T	-0.482149	0.24219	T	0.808408379554749	0.46934	D	0.943606	0.80045	D	0.33889922	0.56192	0.17502446	0.39939	0.33889922	0.56192	0.17502446	0.39938	-6.676	0.51629	T	.	.	0.186	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.035686	0.59715	24.1	0.98635948330251433	0.43987	0.95465	0.64829	D	AEFGBCI	0.666973	0.63525	D	0.0897834286621976	0.45986	2.846207	0.243495966478514	0.52281	3.40391	0.810655740948619	0.24349	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.46	5.46	0.80021	5.040000	0.63987	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	15.527	0.75650	859	0.33891	.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain;.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	616.83	22	chr7	108497549	.	T	G	616.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=166;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=1.37;SOR=1.167	GT:AD:DP:GQ:PL	0/1:13,25:38:99:627,0,253	5	0	1	0
chr7	112939695	112939695	G	C	exonic	BMT2	.	nonsynonymous SNV	BMT2:NM_152556:exon1:c.C56G:p.P19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.022454820272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.052e-06	1.363e-06	1.377e-06	2.988e-05	2.3e-07	9e-08	.	.	2.988e-05	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.071	0.43531	T	0.0	0.02946	B	0.0	0.01387	B	0.573257	0.11217	U	0.787148	0.994287	0.23550	N	.	.	.	.	.	.	-0.07	0.08033	N	0.106	0.09066	-1.0196	0.23845	T	0.075	0.30242	T	9	0.058901787	0.06997	T	0.022455	0.45351	T	0.021	0.04004	0.237	0.16760	0.043077524339	0.03247	0.1980681276761079	0.19723	0.822681584721	0.67246	.	.	.	0.017267	0.14114	T	-0.117744	0.33494	T	-0.406908	0.32582	T	0.0837086513638496	0.10455	T	0.407159	0.10452	T	0.06776147	0.14705	0.13338839	0.31987	0.06776147	0.14704	0.13338839	0.31986	-1.926	0.02914	T	.	.	0.063	0.01449	B	.	.	1.715552	0.21842	15.37	0.90666990623394816	0.19918	0.36001	0.25432	N	ALL	0.066794	0.13098	N	-0.817286952491799	0.12868	0.6301022	-0.81664470436992	0.14092	0.7345551	0.999999971300768	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.492483	0.08430	1	.	.	5.04	0.973	0.18829	-0.028000	0.12299	.	.	0.586000	0.30580	0.286000	0.25196	0.888000	0.27792	0.736000	0.35301	0.1665:0.3037:0.5297:0.0	6.465	0.21176	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	384.83	34	chr7	112939695	.	G	C	384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.46;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=2.2;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	5	0	1	0
chr7	116257352	116257352	A	G	exonic	TES	.	nonsynonymous SNV	TES:NM_015641:exon7:c.A1136G:p.N379S,TES:NM_152829:exon7:c.A1109G:p.N370S	.	438	1077	7	0	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	.	.	0.0113818	0.0063	9.61e-05	0.0005	0.0001	0	0.0001	0.0066	0.0453	0.0055368	856	154602	rs201714316	0.0028	0.0028	0.0015	0.0041	0.0447	0.0027	0.0027	0.0435	0.0430	2.988e-05	0.0002	0.0001	0	3.744e-05	0.0024	4.946e-05	0.0030	0.0447	0.0018	0.0018	0.0010	0.0026	0.0537	0.0016	0.0015	0.0483	0.0463	4.814e-05	0	0.0001	0	0.0002	0	0	4.41e-05	0.0009	0.0537	0.226	0.20835	T	0.642	0.06925	T	0.0	0.02946	B	0.001	0.04355	B	0.001021	0.40562	N	0.215683	0.969439	0.38728	D	1.79	0.46772	L	-2.24	0.88455	D	-0.9	0.24898	N	0.068	0.06587	-0.3129	0.74623	T	0.510	0.81575	D	10	0.0031743944	0.00053	T	.	.	.	0.240	0.54500	0.534	0.64293	0.811351156269	0.80957	0.07053226397762064	0.06990	0.0565668980249	0.06250	0.30550968647	0.11228	T	0.41868	0.77094	T	-0.420572	0.01696	T	-0.344043	0.39887	T	0.0156795409731871	0.00361	T	0.892211	0.62852	D	0.28515255	0.51538	0.16315885	0.37863	0.28515255	0.51538	0.16315885	0.37862	-5.265	0.39596	T	.	.	0.066	0.03231	B	.;.	.;.	0.837818	0.12093	8.647	0.9847307607069633	0.41884	0.62289	0.31736	D	AEFGBCI	0.184303	0.31163	N	-0.442430239336738	0.23998	1.292681	-0.334090473610269	0.27006	1.495551	0.999999070550522	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.64	4.49	0.54177	0.987000	0.29203	-0.566000	0.08452	0.756000	0.94297	0.180000	0.24064	0.000000	0.08366	0.979000	0.57723	0.8574:0.0:0.1426:0.0	8.963	0.35021	722	0.55239	Zinc finger, LIM-type|Zinc finger, LIM-type|Testin, LIM domain 3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.034091	0.08333	248.83	40	chr7	116257352	.	A	G	248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.229;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=-0.867;SOR=0.91	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	5	0	1	0
chr7	116796087	116796087	T	G	exonic	MET	.	nonsynonymous SNV	MET:NM_001324402:exon20:c.T2846G:p.V949G,MET:NM_000245:exon21:c.T4136G:p.V1379G,MET:NM_001127500:exon21:c.T4190G:p.V1397G	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1521	1	0	0	1	0.000328623	.	.	.	1044590	Hereditary_cancer-predisposing_syndrome|not_provided|Renal_cell_carcinoma	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	0.0157620198462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.435	0.13518	T	0.0	0.02946	B	0.0	0.01387	B	0.210677	0.16373	N	0.669254	0.983433	0.43626	D	0	0.06538	N	-0.78	0.73631	T	-0.49	0.15578	N	0.068	0.12627	-1.0172	0.24625	T	0.177	0.52272	T	10	0.07837874	0.12485	T	0.015762	0.36670	T	0.145	0.38592	0.308	0.27967	0.452476734342	0.44872	0.6178991278886501	0.61722	1.00905915386	0.74685	0.267533689737	0.05821	T	0.293877	0.66657	T	-0.0652781	0.42077	T	-0.331544	0.41297	T	0.0492458529770374	0.05366	T	0.208679	0.02500	T	0.05912511	0.11979	0.0438646	0.05553	0.05912511	0.11979	0.0438646	0.05553	-3.262	0.13252	T	.	.	0.062	0.01328	B	.;.	.;.	0.895990	0.12696	9.219	0.81052768644004425	0.13496	0.78801	0.38934	D	AEFBI	0.283981	0.39696	N	-0.692279811078883	0.16241	0.8256814	-0.567152230387967	0.20352	1.096117	0.994560936662363	0.33696	0.722319	0.85440	0	0.563428	0.19063	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	4.43	1.99	0.25423	0.446000	0.21410	1.716000	0.28228	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.287000	0.24188	0.0:0.1645:0.1524:0.6831	5.216	0.14666	703	0.57489	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1497.83	47	chr7	116796087	.	T	G	1497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=322;ExcessHet=0;FS=3.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.38;SOR=1.056	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1325	5	0	1	0
chr7	117534295	117534295	G	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon5:c.G509T:p.R170L	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.737774627815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.001	0.83351	D	0.949	0.53761	P	0.871	0.61869	P	0.000008	0.62929	D	0.108901	0.999998	0.58761	D	1.13	0.28900	L	-2.61	0.89953	D	-2.83	0.59710	D	0.839	0.83473	0.439	0.89667	D	0.706	0.89904	D	10	0.91400194	0.90762	D	0.737775	0.97896	D	0.820	0.94238	0.738	0.87063	0.976046592347	0.97578	0.9331083844034441	0.93289	0.00590512933603	0.00517	0.763000249863	0.76377	T	0.774835	0.94002	D	0.398244	0.89809	D	0.334274	0.89681	D	0.989456593990326	0.79690	D	0.968203	0.89778	D	0.5786244	0.71533	0.5238114	0.72488	0.5786244	0.71534	0.5238114	0.72489	-3.698	0.22377	T	0.7696870712673856	0.85078	0.352	0.65710	A	.;.;.;.	.;.;.;.	5.219894	0.87605	29.3	0.99822208203658125	0.90502	0.98279	0.81205	D	AEFI	0.971439	0.99350	D	0.668310729440703	0.77556	6.697864	0.705611240096563	0.82806	7.858939	0.999340489285442	0.39222	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.138000	0.76898	11.840000	0.97786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.996	0.71087	811	0.42639	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	650.83	52	chr7	117534295	.	G	T	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=236;ExcessHet=0;FS=2.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.109;SOR=1.134	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	5	0	1	0
chr7	121124461	121124461	A	C	exonic	CPED1	.	nonsynonymous SNV	CPED1:NM_001105533:exon7:c.A1049C:p.K350T,CPED1:NM_024913:exon8:c.A1049C:p.K350T	.	435	1085	2	0	0	2	0.00092081	.	.	.	2333784	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.015666289211	7.7e-05	0.000199681	0.0003	0	0.0002	0	0.0006	0.0003	0	0.0005	0.0002199	34	154602	rs200186503	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	0.0003	0.0007	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	7.221e-05	0	0.0001	0	0	0.0006	0	0.0003	0	0.0006	0.029	0.54683	D	0.08	0.47828	T	0.219	0.73220	B	0.061	0.68536	B	0.012007	0.29322	N	0.339227	0.842129	0.35084	D	2.84	0.82582	M	0.78	0.49358	T	-1.53	0.69118	N	0.325	0.38438	-0.5715	0.65955	T	0.273	0.64515	T	10	0.077049404	0.12114	T	0.015666	0.36531	T	0.091	0.26358	.	.	0.242825505644	0.23883	0.4278098411833417	0.42697	0.0869547142286	0.09809	0.501538872719	0.39042	T	0.059874	0.38036	T	-0.220472	0.17928	T	-0.205038	0.54169	T	0.0619388859839075	0.07471	T	0.868613	0.57103	D	0.20081358	0.42070	0.124403775	0.29986	0.20081358	0.42070	0.124403775	0.29985	-0.843	0.00841	T	.	.	0.199	0.42259	B	.;.;.;.;.	.;.;.;.;.	3.114401	0.42023	21.5	0.99384839343024844	0.62068	0.90110	0.51034	D	AEFBI	0.673406	0.63948	D	0.211104139224444	0.51735	3.352587	0.25377809775778	0.52866	3.458518	0.999998854754102	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	4.228000	0.58419	6.174000	0.54533	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	1.0:0.0:0.0:0.0	13.367	0.60133	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	279.83	30	chr7	121124461	.	A	C	279.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.604;DP=170;ExcessHet=0;FS=1.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.488;SOR=0.223	GT:AD:DP:GQ:PL	0/0:25,0:25:63:0,63,945	5	0	1	0
chr7	121339164	121339164	A	G	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon4:c.A887G:p.Q296R,WNT16:NM_057168:exon4:c.A917G:p.Q306R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00707722374607	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168501365	4.104e-06	4.104e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	0.05420	T	0.98	0.02423	T	0.001	0.07471	B	0.002	0.06944	B	0.000485	0.43931	N	0.263887	0.596084	0.32497	D	-0.65	0.02095	N	-0.95	0.75438	T	-0.64	0.18670	N	0.145	0.14622	-0.8988	0.48115	T	0.139	0.45810	T	10	0.19924125	0.35926	T	0.007077	0.18759	T	0.130	0.35528	0.575	0.69957	0.883659811782	0.88252	0.49947047618281687	0.49868	0.166182025418	0.18754	0.479666173458	0.36010	T	0.382596	0.74464	T	-0.23396	0.16127	T	-0.476989	0.24768	T	0.0341178569489577	0.02658	T	0.839216	0.51320	T	0.08249704	0.19006	0.07639971	0.16916	0.08249704	0.19006	0.07639971	0.16916	-2.71	0.07387	T	.	.	0.061	0.02518	B	.;.	.;.	1.315346	0.17185	13.01	0.91411881985884802	0.20679	0.59154	0.30837	D	AEFHCI	0.162161	0.28831	N	-0.600823006671817	0.18921	0.9861644	-0.371102058913237	0.25862	1.424931	0.999999811198856	0.74766	0.581397	0.33459	0	0.187218	0.04217	2	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.81	3.49	0.39065	2.376000	0.43947	3.689000	0.39491	0.756000	0.94297	0.704000	0.28664	1.000000	0.68203	0.999000	0.91618	0.8603:0.0:0.1397:0.0	9.662	0.39123	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1576.83	94	chr7	121339164	.	A	G	1576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.278;DP=419;ExcessHet=0;FS=12.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.934;SOR=1.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	5	0	1	0
chr7	123616399	123616399	A	G	exonic	ASB15	.	nonsynonymous SNV	ASB15:NM_080928:exon4:c.A196G:p.K66E,ASB15:NM_001290258:exon6:c.A196G:p.K66E	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0084754779281	0.0011	0.000798722	0.0016	0.0004	0.0019	0	0	0.0017	0.0033	0.0027	0.0015006	232	154602	rs146389595	0.0012	0.0012	0.0011	0.0013	0.0139	0.0011	0.0011	0.0114	0.0105	0.0008	0.0015	0.0121	0	1.873e-05	0.0139	0.0007	0.0026	0.0030	0.0009	0.0009	0.0009	0.0009	0.0033	0.0008	0.0007	0.0021	0.0017	0.0002	0	0.0008	0.0118	0	0	0.0272	0.0007	0.0019	0.0033	0.892	0.30656	T	0.96	0.92824	T	0.332	0.33274	B	0.186	0.36104	B	0.000001	0.84330	D	0.000000	0.991962	0.41520	D	1.955	0.52871	M	2.45	0.52416	T	-0.72	0.30555	N	0.422	0.46928	-0.9451	0.41797	T	0.137	0.45260	T	10	0.008272409	0.00188	T	0.008475	0.22407	T	0.159	0.41286	.	.	0.623888465017	0.62083	0.33115366317917055	0.33028	0.195611412408	0.21904	0.442374646664	0.30901	T	0.00741	0.06818	T	-0.287075	0.09932	T	-0.188818	0.55701	T	0.0427459386873625	0.04190	T	0.79572	0.43862	T	0.21618117	0.44070	0.29316846	0.55345	0.21618117	0.44069	0.29316846	0.55344	-4.073	0.24891	T	.	.	0.18	0.54368	B	.;.;.;.;.;.	.;.;.;.;.;.	2.810219	0.36988	20.4	0.9963365777917903	0.76203	0.98045	0.79135	D	AEDIJ	0.838380	0.75590	D	0.240152028362037	0.53154	3.485585	0.385193605664805	0.60650	4.255098	0.99973891051268	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.182000	0.58107	7.922000	0.74576	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.682	0.77130	690	0.58899	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011604	0.000000	0.016304	0.011696	0.000000	0.043103	0.006173	0.003788	0.08333	1166.83	101	chr7	123616399	.	A	G	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.057;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.693;SOR=0.738	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr7	123627256	123627256	C	T	exonic	ASB15	.	stopgain	ASB15:NM_080928:exon7:c.C844T:p.R282X,ASB15:NM_001290258:exon9:c.C844T:p.R282X	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00898562	0.0079	0.0007	0.0500	0.0287	0.0082	0.0004	0.0089	0.0017	0.0070762	1094	154602	rs116956332	0.0029	0.0029	0.0031	0.0027	0.0451	0.0028	0.0028	0.0435	0.0428	0.0004	0.0451	0.0002	0.0339	0.0070	0.0005	0.0002	0.0029	0.0015	0.0049	0.0049	0.0041	0.0057	0.0289	0.0046	0.0045	0.0266	0.0258	0.0006	0	0.0289	0	0.0257	0.0110	0	0.0002	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.004952	0.33236	N	0.139826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236669	0.77349	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High	8.129159	0.97211	37	0.99676919507720396	0.78977	0.88769	0.48857	D	AEFI	0.410746	0.48150	N	0.589142947540737	0.72497	5.814979	0.434929938980213	0.63754	4.615722	0.00288669013316398	0.09774	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	5.77	3.95	0.44952	1.543000	0.35754	1.414000	0.26305	-0.189000	0.09497	0.906000	0.31575	0.999000	0.35428	0.986000	0.61781	0.5595:0.4405:0.0:0.0	14.089	0.64506	714	0.56256	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	565.83	35	chr7	123627256	.	C	T	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=240;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-1.563;SOR=0.95	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1128	5	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.08333	1369.83	42	chr7	127584383	.	C	T	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.112;DP=327;ExcessHet=0;FS=3.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.255;SOR=0.927	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1387	5	0	1	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	763.83	33	chr7	127598540	.	C	T	763.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.451;DP=251;ExcessHet=0;FS=0.864;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.055;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	5	0	1	0
chr7	127615065	127615065	C	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366111:exon3:c.G175C:p.G59R,PAX4:NM_001366110:exon5:c.G175C:p.G59R	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	.	.	.	.	.	.	.	.	.	1581365	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.685	0.231792295361	.	0.000199681	0.0001	0	0	0.0020	0	0	0	0	0.0001164	18	154602	rs571619646	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0006	1.111e-05	9.33e-06	0.0004	0.0003	0	0	0	0.0006	0	0	0	3.311e-05	0	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.028	0.56456	D	0.004	0.74150	D	0.992	0.64738	D	0.845	0.60432	P	0.000894	0.41231	N	0.279604	0.996915	0.43501	D	.	.	.	-5.63	0.99387	D	-5.51	0.86914	D	0.482	0.52740	1.071	0.98620	D	0.963	0.98800	D	10	0.10521129	0.19436	T	0.231792	0.88292	D	0.685	0.88490	0.628	0.76366	0.96858258482	0.96824	0.6063819022387102	0.60569	0.0990137291376	0.11188	0.638192772865	0.58306	T	0.782578	0.94274	D	-0.136992	0.30368	T	0.0270798	0.72088	D	0.315959994105012	0.25658	T	0.952205	0.81731	D	.	.	.	.	.	.	.	.	-8.814	0.66492	D	.	.	0.548	0.66704	A	.;.;.;.;.;.	.;.;.;.;.;.	3.752997	0.53807	23.4	0.99924679417317475	0.98980	0.92324	0.55449	D	AEFDBI	0.601499	0.59372	D	0.37220298986467	0.59921	4.175729	0.357232656089144	0.58944	4.06837	0.998475386310879	0.37033	0.603402	0.35316	0	0.563428	0.19063	0	0.657636	0.52715	0	0.663205	0.64265	0	.	.	5.73	3.93	0.44666	1.291000	0.32936	4.070000	0.41657	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.999000	0.91618	0.0:0.837:0.0:0.163	10.005	0.41125	0	0.99858	.;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain;Paired domain|Paired domain|Paired domain|Paired domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1927.83	33	chr7	127615065	.	C	G	1927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.646;DP=363;ExcessHet=0;FS=5.372;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-2.259;SOR=0.931	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1351	5	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	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	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.25	419.71	216	chr7	128479325	.	T	C	419.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.1;DP=985;ExcessHet=0.4139;FS=71.433;MLEAC=2;MLEAF=0.25;MQ=58.11;MQRankSum=-11.35;QD=1.16;ReadPosRankSum=-1.886;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,20:187:99:0|1:128479325_T_C:337,0,6899:128479325	2	0	2	2
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	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	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.3333	421.99	220	chr7	128479326	.	G	C	421.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.47;DP=994;ExcessHet=0.4139;FS=71.433;MLEAC=3;MLEAF=0.5;MQ=58.17;MQRankSum=-11.35;QD=1.17;ReadPosRankSum=-2.163;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,20:187:99:0|1:128479325_T_C:337,0,6899:128479325	1	0	2	3
chr7	128677743	128677743	C	T	exonic	FAM71F2	.	nonsynonymous SNV	FAM71F2:NM_001012454:exon3:c.C545T:p.T182I,FAM71F2:NM_001128926:exon3:c.C518T:p.T173I,FAM71F2:NM_001290254:exon4:c.C260T:p.T87I,FAM71F2:NM_001290255:exon4:c.C260T:p.T87I	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0060	0.00738818	0.0098	0.0013	0.0035	0.0001	0.0020	0.0089	0.0056	0.0312	0.0091202	1410	154602	rs201533178	0.0088	0.0088	0.0080	0.0096	0.0311	0.0087	0.0086	0.0301	0.0297	0.0015	0.0029	0.0068	7.557e-05	0.0013	0.0139	0.0082	0.0079	0.0311	0.0056	0.0056	0.0056	0.0056	0.0288	0.0053	0.0052	0.0249	0.0234	0.0015	0.0241	0.0029	0.0066	0.0002	0.0006	0.0136	0.0081	0.0028	0.0288	0.03	0.45393	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000113	0.50451	D	0.000000	0.80703	0.81001	D	2.14	0.59869	M	2.08	0.20255	T	-2.68	0.57275	D	.	.	-0.8908	0.48864	T	0.097	0.36341	T	10	0.00919649	0.00208	T	.	.	.	0.110	0.31079	.	.	.	.	0.5546752896110517	0.55394	.	.	0.627503037453	0.56791	T	0.082458	0.36831	T	-0.349493	0.04759	T	-0.252487	0.49571	T	0.0126631620357627	0.00212	T	0.782522	0.41827	T	0.44731474	0.63871	0.39873335	0.64455	0.44731474	0.63872	0.39873335	0.64455	-8.007	0.63169	D	.	.	0.717	0.73971	P	.;.	.;.	4.118072	0.61526	24.3	0.99909957456325926	0.97949	0.79437	0.39362	D	AEFBI	0.286245	0.39868	N	0.690633544851522	0.79018	6.990073	0.679180252109865	0.80802	7.380318	0.99989815711009	0.45129	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.7	5.7	0.88690	2.480000	0.44865	4.835000	0.45233	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	15.345	0.74043	428	0.80967	Domain of unknown function DUF3699;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.005435	0.000000	0.000000	0.017241	0.018293	0.034091	0.08333	649.83	37	chr7	128677743	.	C	T	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.163;DP=239;ExcessHet=0;FS=8.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.558;SOR=1.938	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	5	0	1	0
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H,CCDC136:NM_022742:exon4:c.G652C:p.D218H,CCDC136:NM_001363423:exon5:c.G802C:p.D268H,CCDC136:NM_001367761:exon5:c.G802C:p.D268H,CCDC136:NM_001367763:exon5:c.G802C:p.D268H,CCDC136:NM_001367764:exon5:c.G802C:p.D268H,CCDC136:NM_001367765:exon5:c.G652C:p.D218H	.	430	1075	17	0	0	17	0.00784495	.	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011581	0.020202	0.010870	0.002924	0.000000	0.025862	0.006098	0.015152	0.08333	769.83	34	chr7	128801491	.	G	C	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.335;DP=236;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=2.09;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	5	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R,CCDC136:NM_001367764:exon16:c.G3088A:p.G1030R	.	422	1082	17	1	0	19	0.00870362	.	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.020202	0.012228	0.002924	0.000000	0.025862	0.009146	0.015152	0.08333	1253.83	34	chr7	128814812	.	G	A	1253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=262;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	5	0	1	0
chr7	128840575	128840575	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.G1577A:p.R526Q,FLNC:NM_001458:exon10:c.G1577A:p.R526Q	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	190795	not_specified|not_provided|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.199	.	0.0014	0.00299521	0.0023	0.0010	0.0007	0	0	0.0012	0.0011	0.0108	0.0021927	339	154602	rs34932223	0.0022	0.0022	0.0019	0.0025	0.0096	0.0021	0.0021	0.0091	0.0089	0.0012	0.0016	0	0	0.0001	0.0016	0.0019	0.0020	0.0096	0.0016	0.0016	0.0017	0.0015	0.0085	0.0014	0.0014	0.0064	0.0057	0.0008	0	0.0020	0	0	0.0006	0	0.0019	0.0009	0.0085	0.044	0.41096	D	0.245	0.24054	T	0.027	0.19556	B	0.015	0.17295	B	0.241004	0.15711	N	0.620373	1	0.08975	N	1.135	0.28956	L	-1.84	0.84195	D	-1.35	0.33598	N	0.314	0.36359	-0.6014	0.64759	T	0.389	0.74394	T	10	0.0068624616	0.00156	T	.	.	.	0.199	0.48268	.	.	0.426039362998	0.42221	0.32783013417972684	0.32696	0.319035525961	0.34116	0.35458356142	0.18594	T	0.357542	0.72423	T	-0.402556	0.02228	T	-0.343059	0.39998	T	0.00742864542466097	0.00086	T	0.836416	0.50788	T	0.04008348	0.05657	0.059511866	0.11181	0.041022338	0.05964	0.059008688	0.11001	-5.347	0.40406	T	0.1896189704614919	0.24810	0.076	0.07793	B	.;.	.;.	2.499507	0.32263	18.99	0.99504341911348548	0.68206	0.21797	0.21527	N	AEFDBHCI	0.101347	0.20358	N	-0.719623274724168	0.15470	0.7799423	-0.611670608056233	0.19194	1.028686	0.999994398205015	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	4.41	0.52588	0.487000	0.22064	5.217000	0.47986	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.763000	0.36255	0.1663:0.0:0.8337:0.0	10.703	0.45131	626	0.65439	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	813.83	36	chr7	128840575	.	G	A	813.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=234;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.463;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	5	0	1	0
chr7	128878637	128878637	T	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon38:c.A4232T:p.N1411I	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.00119808	0.0021	0.0005	0	0	0.0068	0.0022	0	0.0018	0.0007633	118	154602	rs191095949	0.0031	0.0030	0.0031	0.0031	0.0034	0.0030	0.0030	0.0033	0.0033	0.0008	0.0018	0.0012	2.798e-05	0.0051	0.0005	0.0034	0.0021	0.0025	0.0025	0.0025	0.0025	0.0026	0.0035	0.0023	0.0022	0.0031	0.0030	0.0006	0	0.0022	0.0020	0	0.0064	0	0.0035	0.0014	0.0019	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.86404	.	.	.	.	.	.	.	0.040703982	0.02661	T	.	.	.	.	.	.	.	0.335414705075	0.33150	0.8077449840177505	0.80729	.	.	0.465006321669	0.33996	T	0.373505	0.73887	T	0.0260081	0.55189	T	0.268308	0.86483	D	.	.	.	0.906109	0.67676	D	0.36454192	0.58179	0.50223315	0.71225	0.36454192	0.58179	0.50223315	0.71226	-13.162	0.90019	D	.	.	0.934	0.85575	P	.;.;.	.;.;.	4.451128	0.69188	25.3	0.7968484101949409	0.12853	0.93609	0.58687	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999995302288442	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.129117	0.03641	0	0.058706	0.01089	0	0.795994	0.47091	4.94	3.78	0.42629	3.014000	0.49278	6.130000	0.53904	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.088:0.0:0.912	9.309	0.37055	567	0.70732	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	0.002242	0.000000	0.000000	0.000000	0.000000	0.062500	0.000000	0.000000	0.08333	896.83	35	chr7	128878637	.	T	A	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.686;SOR=0.66	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1181	5	0	1	0
chr7	128890943	128890943	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon20:c.C2126T:p.A709V,KCP:NM_199349:exon20:c.C2126T:p.A709V	.	324	1166	27	5	0	37	0.0156184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	0	.	.	0	.	0	0.0006921	107	154602	rs142146217	0.0078	0.0064	0.0077	0.0079	0.0236	0.0077	0.0076	0.0192	0.0175	0.0044	0.0063	0.0050	0	0.0041	0.0236	0.0082	0.0079	0.0053	0.0071	0.0071	0.0075	0.0067	0.0098	0.0067	0.0066	0.0091	0.0089	0.0041	0.0186	0.0065	0.0046	0.0002	0.0049	0.0274	0.0098	0.0100	0.0064	.	.	.	0.047	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.26111	.	.	.	.	.	.	.	0.0073870122	0.00168	T	.	.	.	.	.	.	.	0.343334270461	0.33943	0.2254635075436212	0.22461	.	.	0.637730777264	0.58241	T	0.023234	0.17773	T	-0.238041	0.15600	T	-0.108592	0.62724	T	.	.	.	0.516848	0.16688	T	0.053548023	0.10148	0.22741485	0.47750	0.053548023	0.10147	0.22741485	0.47749	-9.267	0.69400	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.598436	0.33719	19.42	0.97280268731145969	0.33181	0.65780	0.32852	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999948015	0.74766	0.110573	0.02883	0	0.166317	0.03975	0	0.119651	0.03204	0	0.109499	0.03221	0	0.961317	0.65959	4.15	4.15	0.47978	1.230000	0.32214	1.427000	0.26414	0.483000	0.22176	0.006000	0.17386	0.012000	0.20211	0.688000	0.33778	0.0:0.0:1.0:0.0	14.299	0.65887	546	0.72524	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026611	0.031250	0.084746	0.011236	0.000000	0.000000	0.006410	0.039474	0.08333	123.84	17	chr7	128890943	.	G	A	123.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=82;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0;SOR=0.476	GT:AD:DP:GQ:PL	0/1:11,7:18:99:134,0,271	5	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V,KCP:NM_199349:exon17:c.C1715T:p.A572V	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005636	0.005208	0.000000	0.000000	0.000000	0.016667	0.008475	0.021429	0.08333	753.83	41	chr7	128891726	.	G	A	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.517;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.688;SOR=0.656	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	5	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.1667	1566.06	36	chr7	128893261	.	G	A	1566.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.75;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.918;SOR=0.73	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1291	4	0	2	0
chr7	129203555	129203555	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G503A:p.R168H	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	430	1061	29	2	0	33	0.0153132	.	.	.	139005	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0021	0.00958466	0.0095	0.0004	0.0013	0	0.0002	0.0032	0.0158	0.0532	0.0069339	1072	154602	rs61746143	0.0047	0.0047	0.0032	0.0061	0.0462	0.0046	0.0045	0.0450	0.0445	0.0005	0.0017	0.0053	0	0.0006	0.0153	0.0020	0.0048	0.0462	0.0030	0.0030	0.0022	0.0038	0.0458	0.0028	0.0027	0.0408	0.0389	0.0002	0	0.0023	0.0078	0.0004	0	0.0068	0.0024	0.0014	0.0458	0.007	0.59928	D	0.018	0.59732	D	0.768	0.43819	P	0.372	0.43610	B	0.000012	0.62929	D	0.099149	0.954403	0.37876	D	1.64	0.41913	L	-1.34	0.79944	T	-3.08	0.63323	D	0.36	0.40164	-0.2252	0.77013	T	0.322	0.69056	T	10	0.017337203	0.00370	T	.	.	.	0.426	0.73372	.	.	0.856339808068	0.85495	0.4635699264073164	0.46275	1.68521837868	0.90051	0.456530988216	0.32835	T	0.787159	0.94435	D	-0.362033	0.04016	T	-0.260677	0.48757	T	0.0523352547188831	0.05905	T	0.89581	0.63671	D	0.26048836	0.49105	0.115611814	0.27908	0.3058411	0.53423	0.115611814	0.27907	-6.068	0.46844	T	.	.	0.094	0.14293	B	.	.	5.101587	0.85237	28.5	0.99953317081244297	0.99957	0.66007	0.32930	D	AEFDBI	0.238549	0.36065	N	0.434301182156193	0.63319	4.563295	0.492786399810357	0.67511	5.093808	0.999239072247611	0.38840	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	4.43	0.52967	5.280000	0.65411	8.352000	0.77014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.181:0.0:0.819:0.0	8.401	0.31747	714	0.56256	Frizzled domain|Frizzled domain|Frizzled 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	0.009119	0.010309	0.002717	0.011834	0.000000	0.000000	0.006173	0.026515	0.08333	719.83	34	chr7	129203555	.	G	A	719.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.262;DP=231;ExcessHet=0;FS=2.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.402;SOR=0.302	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A,STRIP2:NM_020704:exon4:c.T275C:p.V92A	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	691.83	35	chr7	129451613	.	T	C	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.21;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.687;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1226	5	0	1	0
chr7	131445777	131445777	A	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon12:c.A778G:p.N260D,MKLN1:NM_013255:exon12:c.A1399G:p.N467D,MKLN1:NM_001145354:exon13:c.A1330G:p.N444D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0158621107532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466724898	6.271e-06	7.525e-06	6.927e-06	5.606e-06	0.0004	2.95e-06	2.14e-06	6.268e-05	2.586e-05	0	0	0	0	0	0.0004	6.353e-06	0	0	1.976e-05	1.971e-05	0	4.048e-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	0.511	0.08839	T	0.608	0.07741	T	0.514	0.37393	P	0.216	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	0.09	0.61443	T	-1.46	0.35792	N	0.63	0.66959	-0.9719	0.36798	T	0.137	0.45394	T	10	0.36690748	0.53173	T	0.015862	0.36823	T	0.188	0.46444	0.45	0.51121	0.44851236055	0.44475	0.6535716706465415	0.65293	1.73630748658	0.90807	0.895734012127	0.95953	D	0.021416	0.53182	T	-0.0580923	0.43205	T	-0.321222	0.42441	T	0.934405863285065	0.60186	D	0.945205	0.79148	D	0.27105653	0.50176	0.17111407	0.39269	0.27105653	0.50176	0.17111407	0.39269	-3.649	0.18568	T	.	.	0.307	0.58428	B	.;.	.;.	4.839176	0.78995	27.0	0.99605865065845822	0.74516	0.98789	0.86875	D	AEFGBI	0.893179	0.83086	D	0.0906039314389284	0.46025	2.849387	0.249661564367499	0.52631	3.436599	0.99999999996735	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	9.239000	0.94505	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.133	0.64798	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	781.83	38	chr7	131445777	.	A	G	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.259;DP=256;ExcessHet=0;FS=7.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.965;SOR=0.208	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1246	5	0	1	0
chr7	131506291	131506291	C	T	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon6:c.G1184A:p.R395Q,PODXL:NM_001018111:exon7:c.G1280A:p.R427Q	.	0	225	1	0	0	1	0.00221729	.	.	.	1541791	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.00408158761684	0.0002	0.000399361	0.0002	9.61e-05	0.0008	0	0	0.0002	0	0	0.0001876	29	154602	rs199529657	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	8.961e-05	0.0010	0	0	0	0.0003	0.0003	0.0002	5.797e-05	0.0004	0.0004	0.0003	0.0006	0.0021	0.0003	0.0003	0.0015	0.0013	7.215e-05	0	0.0021	0	0	0	0	0.0004	0.0019	0	0.34	0.12714	T	0.145	0.33000	T	0.179	0.28995	B	0.014	0.16862	B	0.404368	0.04554	N	1.506970	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-0.01	0.07590	N	0.1	0.12770	-1.0408	0.17071	T	0.019	0.08173	T	10	0.020045966	0.00456	T	0.004082	0.09744	T	0.038	0.09825	.	.	0.18274738541	0.17906	0.3441388122477267	0.34327	0.375685216108	0.39028	0.21295183897	0.00943	T	0.061532	0.31678	T	-0.584214	0.00182	T	-0.69122	0.06319	T	0.0255381071840856	0.01344	T	0.587441	0.21745	T	0.024510982	0.01289	0.030094951	0.01422	0.024510982	0.01289	0.030094951	0.01422	-5.738	0.44031	T	.	.	0.097	0.17700	B	.;.	.;.	1.102562	0.14872	11.40	0.99105166612299944	0.52572	0.02766	0.07461	N	AEFDBHCI	0.047538	0.08015	N	-1.28074816257271	0.03907	0.1754088	-1.28209261520343	0.04672	0.2209466	0.995900895694021	0.34398	0.67177	0.52595	0	0.759151	0.99529	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.79	-2.71	0.05633	-0.740000	0.04966	-1.850000	0.04613	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.745000	0.35611	0.268:0.272:0.1882:0.2718	0.184	0.00118	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1091.83	35	chr7	131506291	.	C	T	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.792;SOR=0.671	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1102,0,1211	5	0	1	0
chr7	132223613	132223613	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon9:c.C2011T:p.R671C	.	.	.	.	.	.	.	.	.	.	.	2797658	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.00496985225715	7.9e-05	0.000399361	3.573e-05	0	9.318e-05	0	0	4.81e-05	0	0	3.88e-05	6	154602	rs199651527	2.942e-05	2.941e-05	3.54e-05	2.339e-05	0.0002	2.217e-05	1.97e-05	5.808e-05	3.954e-05	2.987e-05	0.0001	0	2.52e-05	0	0.0002	2.249e-05	6.625e-05	5.807e-05	7.224e-05	7.218e-05	5.141e-05	9.401e-05	0.0006	3.969e-05	3.126e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.024	0.56640	D	0.995	0.67487	D	0.762	0.56524	P	0.000000	0.84330	D	0.056342	0.999997	0.58761	D	2.275	0.64647	M	2.25	0.17761	T	-2.53	0.54864	D	0.712	0.71498	-1.1458	0.01156	T	0.060	0.24981	T	10	0.49735403	0.61345	T	0.00497	0.12535	T	0.250	0.55888	.	.	0.220282294035	0.21616	0.46048553142132803	0.45966	1.50425018939	0.87093	0.506606340408	0.39748	T	0.265751	0.63764	T	-0.0872721	0.38525	T	-0.18729	0.55845	T	0.936082541942596	0.60481	D	0.980902	0.93438	D	0.29470396	0.52425	0.25209165	0.50832	0.29470396	0.52425	0.25209165	0.50831	-15.609	0.97115	D	.	.	0.401	0.59611	A	.;.	.;.	5.792331	0.93574	33	0.99930972119823291	0.99387	0.99238	0.93267	D	AEFDBI	0.936715	0.93343	D	0.765808948875862	0.83931	8.148201	0.776525813039244	0.88117	9.463842	0.999999960940692	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.8	4.87	0.62877	7.938000	0.87136	7.275000	0.58003	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8596:0.1404	15.333	0.73940	875	0.30485	PSI domain;PSI 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	.	.	.	.	.	.	.	.	0.08333	581.83	33	chr7	132223613	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=221;ExcessHet=0;FS=3.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.457;SOR=0.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1333	5	0	1	0
chr7	134536754	134536754	T	G	exonic	AKR1B10	.	stopgain	AKR1B10:NM_020299:exon5:c.T534G:p.Y178X	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0005	0	8.639e-05	0	0.0002	0.0002	0	0.0023	0.0004269	66	154602	rs150738610	0.0003	0.0003	0.0002	0.0005	0.0036	0.0003	0.0003	0.0031	0.0029	0	0.0002	3.827e-05	0	3.744e-05	0.0036	0.0001	0.0003	0.0034	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.000427	0.44522	D	0.236906	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176159	0.71689	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.092638	0.96132	35	0.9908041505210391	0.51954	0.69411	0.34177	D	AEFCI	0.310110	0.41622	N	-0.018785366680861	0.41006	2.445101	-0.288767321328559	0.28467	1.587499	0.999905019883353	0.45458	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.68	-3.56	0.04330	0.007000	0.13074	-5.727000	0.01616	-0.234000	0.07639	0.921000	0.31989	0.000000	0.08366	0.996000	0.76049	0.0:0.7532:0.0:0.2468	14.435	0.66849	822	0.40702	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.001775	0.000000	0.001366	0.000000	0.000000	0.000000	0.003623	0.004237	0.08333	1220.83	33	chr7	134536754	.	T	G	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=290;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-0.356;QD=14.36;ReadPosRankSum=-1.447;SOR=0.761	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	5	0	1	0
chr7	134538258	134538258	G	A	exonic	AKR1B10	.	nonsynonymous SNV	AKR1B10:NM_020299:exon8:c.G806A:p.R269H	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0132954678695	0.0013	0.000798722	0.0027	0.0011	0.0020	0	0	0.0021	0.0077	0.0087	0.0023609	365	154602	rs146556418	0.0024	0.0024	0.0021	0.0027	0.0089	0.0023	0.0023	0.0084	0.0081	0.0023	0.0021	7.653e-05	0.0002	5.616e-05	0.0071	0.0021	0.0027	0.0089	0.0019	0.0020	0.0018	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0020	0	0.0027	0	0.0004	9.423e-05	0.0034	0.0017	0.0038	0.0085	0.051	0.39334	T	0.094	0.39645	T	0.02	0.18235	B	0.022	0.19653	B	0.000002	0.62929	N	0.104408	0.999985	0.54805	D	1.275	0.32135	L	1.9	0.23486	T	-3.81	0.71882	D	0.392	0.43320	-1.0772	0.07901	T	0.064	0.26562	T	10	0.012001812	0.00260	T	0.013295	0.32578	T	0.081	0.23632	.	.	0.290590437066	0.28656	0.7265906804854775	0.72603	0.0417484063962	0.04490	0.27160820365	0.06352	T	0.209792	0.57010	T	-0.514587	0.00473	T	-0.505264	0.21803	T	0.0466400836865233	0.04900	T	0.743426	0.36288	T	0.41403872	0.61692	0.18016008	0.40797	0.41403872	0.61693	0.18016008	0.40796	-8.055	0.61445	D	.	.	0.430	0.61171	A	.	.	2.242027	0.28630	17.86	0.9882154788464238	0.46786	0.85467	0.44602	D	AEFBHCI	0.604892	0.59581	D	-0.393098212925703	0.25713	1.397952	-0.381319867669791	0.25555	1.406028	0.999999953660407	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	2.69	0.30923	2.718000	0.46904	-0.185000	0.11094	0.586000	0.30580	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.1675:0.0:0.8325:0.0	10.177	0.42122	814	0.42100	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	2485.83	33	chr7	134538258	.	G	A	2485.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.687;DP=363;ExcessHet=0;FS=1.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.586;SOR=0.834	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	5	0	1	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M,CALD1:NM_033139:exon6:c.G883A:p.V295M,CALD1:NM_004342:exon7:c.G823A:p.V275M,CALD1:NM_033138:exon8:c.G1588A:p.V530M,CALD1:NM_033157:exon8:c.G901A:p.V301M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005285	0.000000	0.005556	0.003546	0.000000	0.000000	0.009494	0.011538	0.08333	457.83	33	chr7	134947563	.	G	A	457.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.951;DP=183;ExcessHet=0;FS=6.291;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.08;SOR=0.113	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,723	5	0	1	0
chr7	134960033	134960033	A	C	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon9:c.A1338C:p.E446D,CALD1:NM_033139:exon10:c.A1416C:p.E472D,CALD1:NM_004342:exon11:c.A1356C:p.E452D,CALD1:NM_033138:exon12:c.A2121C:p.E707D,CALD1:NM_033157:exon12:c.A1431C:p.E477D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0139047326432	.	.	4.12e-05	9.61e-05	0	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs767071529	3.968e-05	3.967e-05	3.403e-05	4.538e-05	0.0002	3.113e-05	2.846e-05	3.983e-05	2.469e-05	0.0001	0	0	0	0	0.0002	3.687e-05	0.0002	1.159e-05	3.283e-05	3.281e-05	5.139e-05	1.343e-05	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.41e-05	0.0005	0	0.208	0.23360	T	0.678	0.08245	T	0.111	0.37421	B	0.084	0.37394	B	0.000064	0.52346	D	0.000000	0.692373	0.30179	N	1.49	0.37298	L	0.81	0.48460	T	-0.74	0.23590	N	0.491	0.53269	-0.9749	0.36148	T	0.107	0.38882	T	10	0.16765174	0.31271	T	0.013905	0.33646	T	0.203	0.48915	0.618	0.75232	0.74451253264	0.74221	0.13717122240487817	0.13641	0.261570637116	0.28704	0.5825111866	0.50439	T	0.096715	0.59359	T	-0.228385	0.16864	T	-0.379932	0.35731	T	0.0417534106736356	0.04010	T	0.915608	0.73996	D	0.03557775	0.04215	0.048086785	0.07070	0.03557775	0.04214	0.048086785	0.07069	-5.621	0.50992	T	.	.	0.192	0.41078	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.239551	0.16352	12.48	0.96427867582474902	0.29782	0.57352	0.30354	D	AEFBI	0.593532	0.58882	D	-0.716919531224027	0.15547	0.7844099	-0.692699738655952	0.17142	0.9102061	0.807335313872207	0.24293	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	1.96	0.25203	-0.020000	0.12466	2.212000	0.31376	-0.065000	0.16512	0.619000	0.27905	1.000000	0.68203	0.027000	0.12703	0.5337:0.0:0.3356:0.1307	5.050	0.13839	849	0.35778	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	782.83	35	chr7	134960033	.	A	C	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.762;DP=231;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.074;SOR=0.914	GT:AD:DP:GQ:PL	0/1:21,33:54:99:793,0,470	5	0	1	0
chr7	135034651	135034651	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_178563:exon7:c.C1060T:p.R354W	.	434	1087	1	0	0	1	0.00045977	.	.	.	2332014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0234119015888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975006265	2.43e-05	2.326e-05	2.538e-05	2.318e-05	0.0002	1.749e-05	1.543e-05	1.886e-05	1.63e-05	3.165e-05	0	0	0	0	0.0002	2.688e-05	5.172e-05	0	3.287e-05	3.284e-05	5.141e-05	1.346e-05	7.245e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.062511	0.549188	0.31349	N	3.275	0.90144	M	2.68	0.12371	T	-5.17	0.83489	D	0.488	0.52208	-0.7710	0.56803	T	0.110	0.39580	T	10	0.3454477	0.51518	T	0.023412	0.46369	T	0.269	0.58381	0.537	0.64730	0.198526703765	0.19489	0.870581085049	0.87024	.	.	0.45733448863	0.32945	T	.	.	.	-0.0663073	0.41914	T	-0.0963537	0.63680	T	0.88723486661911	0.53772	D	0.921708	0.71584	D	.	.	.	.	.	.	.	.	-11.496	0.82309	D	.	.	0.379	0.58352	A	.;.	.;.	4.356468	0.66959	25.0	0.99904461440484249	0.97576	0.81419	0.40826	D	AEFI	0.364576	0.45307	N	0.417417458289579	0.62378	4.45295	0.27555452054342	0.54116	3.577609	0.366030483351984	0.19823	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	3.53	0.39533	1.856000	0.39028	0.772000	0.21405	0.596000	0.33519	0.796000	0.29669	0.936000	0.28664	0.964000	0.52637	0.4647:0.5353:0.0:0.0	11.530	0.49856	803	0.44167	.;Peptidase M14, carboxypeptidase A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1732.83	33	chr7	135034651	.	C	T	1732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=304;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.38;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	5	0	1	0
chr7	135198020	135198020	C	G	exonic	WDR91	.	nonsynonymous SNV	WDR91:NM_001362736:exon7:c.G1023C:p.K341N,WDR91:NM_001362737:exon7:c.G1023C:p.K341N,WDR91:NM_001362738:exon7:c.G294C:p.K98N,WDR91:NM_014149:exon7:c.G1023C:p.K341N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0247095157815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.225e-06	0.0004	1.228e-05	4.133e-06	1.082e-05	4.39e-06	3.46e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.082e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.015	0.63918	D	0.912	0.50421	P	0.416	0.44962	B	0.000002	0.62929	D	0.132037	0.999208	0.46326	D	1.795	0.47270	L	0.3	0.67543	T	-1.47	0.38540	N	0.548	0.60833	-0.7204	0.59444	T	0.197	0.55229	T	10	0.3418054	0.51223	T	0.02471	0.47696	T	0.061	0.17616	0.269	0.21735	0.661913004606	0.65907	0.17011025613490635	0.16931	0.58467069867	0.54134	0.511138081551	0.40382	T	0.023632	0.29195	T	-0.0809371	0.39562	T	-0.354037	0.38742	T	0.827747404575348	0.48356	D	0.935306	0.75759	D	0.3040003	0.53261	0.18387754	0.41405	0.3040003	0.53261	0.18387754	0.41404	-5.092	0.37823	T	.	.	0.903	0.82925	P	.;.	.;.	3.537164	0.49653	22.8	0.99863544751240574	0.94184	0.97381	0.74389	D	AEFBI	0.330042	0.43020	N	0.314854268337097	0.56910	3.856629	0.390114502417117	0.60956	4.289092	0.999282991160995	0.39007	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	4.58	0.56077	1.547000	0.35798	2.626000	0.33663	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8524:0.0:0.1476	10.466	0.43791	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	69.83	44	chr7	135198020	.	C	G	69.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.334;DP=278;ExcessHet=0;FS=61.266;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.81;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	1	0
chr7	137912952	137912952	T	C	exonic	CREB3L2	.	nonsynonymous SNV	CREB3L2:NM_001253775:exon4:c.A622G:p.M208V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0016605692022	.	.	1.245e-05	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs750176619	2.057e-06	2.052e-06	4.091e-06	0	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	3.765e-05	0	0	0	0	1.315e-05	1.313e-05	0	2.691e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0.0003	0	0	0	0	0	0	0.445	0.26740	T	0.509	0.11041	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.97	0.47130	T	-0.47	0.18248	N	0.043	0.02179	-1.0334	0.19363	T	0.051	0.21728	T	8	0.056810826	0.06426	T	0.001661	0.02728	T	0.051	0.14325	0.24	0.17218	0.642148461468	0.63919	.	.	.	.	.	.	.	0.010829	0.10811	T	-0.365731	0.03816	T	-0.579733	0.14568	T	0.0112513747705157	0.00166	T	0.314968	0.06216	T	.	.	.	.	.	.	.	.	-2.367	0.04935	T	.	.	0.075	0.48345	B	.;.;.	.;.;.	0.312902	0.06877	3.414	0.35679815703512013	0.02253	0.00053	0.00405	N	AEFDBI	0.014011	0.00207	N	-1.33087061246605	0.03328	0.1484454	-1.45107637316682	0.02760	0.1275521	0.999656303032325	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.02	-5.14	0.02656	-0.129000	0.10493	-4.946000	0.01915	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2667:0.3381:0.2646:0.1306	1.302	0.01955	965	0.07246	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	776.83	81	chr7	137912952	.	T	C	776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.689;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.438;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	5	0	1	0
chr7	138861200	138861200	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.G5186A:p.R1729K,KIAA1549:NM_020910:exon16:c.G5186A:p.R1729K	.	428	1084	9	1	0	11	0.00504819	.	.	.	699872	not_provided|Retinal_dystrophy	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	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0006	0.0171725	0.0070	0.0009	0.0004	0.0819	0	0.0005	0.0057	0.0048	0.0065976	1020	154602	rs60797311	0.0037	0.0037	0.0037	0.0037	0.1084	0.0037	0.0036	0.1057	0.1046	0.0005	0.0002	0.0008	0.1084	1.875e-05	0.0007	0.0005	0.0047	0.0039	0.0036	0.0037	0.0032	0.0040	0.0865	0.0034	0.0033	0.0799	0.0773	0.0005	0	0.0004	0.0003	0.0865	0	0	0.0005	0.0024	0.0081	0.0	0.91255	D	0.056	0.46632	T	0.998	0.73220	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.981912	0.25003	N	2.555	0.74557	M	1.57	0.29342	T	-2.53	0.54864	D	0.254	0.29313	-1.1777	0.00404	T	0.008	0.02760	T	10	0.0020601153	0.00029	T	.	.	.	0.101	0.28911	.	.	0.102598925029	0.09809	0.42286415317929255	0.42203	0.114385035191	0.12898	0.607154250145	0.53914	T	0.045276	0.27071	T	-0.565342	0.00236	T	-0.442574	0.28521	T	0.0547285410811422	0.06312	T	0.554844	0.19218	T	0.6722069	0.76551	0.639483	0.78942	0.68491256	0.77236	0.639483	0.78943	-5.278	0.39724	T	.	.	0.088	0.11654	B	.;.	.;.	2.810104	0.36988	20.4	0.99681477322606815	0.79307	0.38639	0.26033	N	AEFDBI	0.172097	0.29911	N	0.207632665557396	0.51568	3.337048	0.0862243917042879	0.43854	2.678654	0.930851908500628	0.27024	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.6	3.72	0.41857	0.976000	0.29059	5.935000	0.51384	0.595000	0.32841	0.043000	0.21118	1.000000	0.68203	0.844000	0.39860	0.1477:0.7715:0.0:0.0808	8.895	0.34617	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	1275.83	34	chr7	138861200	.	C	T	1275.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.491;DP=271;ExcessHet=0;FS=6.506;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.95;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	5	0	1	0
chr7	138861272	138861272	G	A	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.C5114T:p.A1705V,KIAA1549:NM_020910:exon16:c.C5114T:p.A1705V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0051080760048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.434e-06	6.156e-06	5.467e-06	1.38e-06	0.0001	1.01e-06	7.3e-07	4.104e-05	2.388e-05	0.0001	0	0	0	0	0	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.33753	T	0.299	0.20486	T	0.01	0.19075	B	0.011	0.15521	B	0.113532	0.19312	N	0.591969	1	0.08975	N	0.51	0.13489	N	1.91	0.23283	T	-1.81	0.42575	N	0.088	0.08366	-1.0212	0.23324	T	0.028	0.12190	T	10	0.04445368	0.03403	T	0.005108	0.12970	T	0.049	0.13647	0.158	0.06178	0.0675242888579	0.06100	0.20268540405027607	0.20185	0.0984155680203	0.11118	0.351076841354	0.18080	T	0.012055	0.10661	T	-0.342156	0.05239	T	-0.72926	0.04361	T	0.142174008973941	0.16460	T	0.644036	0.25562	T	0.05355305	0.10151	0.094313145	0.22320	0.05355305	0.10151	0.094313145	0.22319	-3.666	0.18818	T	.	.	0.076	0.05890	B	.;.	.;.	1.579327	0.20209	14.64	0.97105924392064924	0.32387	0.05795	0.11731	N	AEFDBI	0.066123	0.12933	N	-0.920297283057455	0.10368	0.4951127	-0.891925043989736	0.12284	0.631032	0.552234148260203	0.21344	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.6	1.81	0.24139	2.279000	0.43094	4.958000	0.46324	0.671000	0.69459	0.084000	0.22438	0.966000	0.29516	0.456000	0.28029	0.3402:0.0:0.6598:0.0	7.860	0.28666	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1133.83	90	chr7	138861272	.	G	A	1133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.17;DP=270;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.085;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	5	0	1	0
chr7	138981145	138981145	-	GGCGGC	exonic	KIAA1549	.	nonframeshift insertion	KIAA1549:NM_001164665:exon1:c.124_125insGCCGCC:p.R41_P42insRR,KIAA1549:NM_020910:exon1:c.124_125insGCCGCC:p.R41_P42insRR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	61.96	22	chr7	138981145	.	G	GGGCGGC	61.96	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.834;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	5	0	1	0
chr7	139055249	139055249	G	A	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon10:c.C2509T:p.R837C,ZC3HAV1:NM_020119:exon10:c.C2143T:p.R715C	.	.	.	.	.	.	.	.	.	.	.	2424318	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00234781285181	7.7e-05	0.000199681	0.0002	0.0002	0.0005	0	0	0.0002	0	6.056e-05	0.0001682	26	154602	rs141029907	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	9.772e-05	0.0005	0.0003	8.963e-05	0.0005	0	0	0	0.0010	0.0001	0.0004	3.488e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.619e-05	0	0.0007	0	0	0	0	0.0002	0.0014	0	0.054	0.38633	T	0.136	0.34009	T	0.561	0.38362	P	0.092	0.30031	B	0.099640	0.02535	N	1.964760	1	0.08975	N	0.345	0.11182	N	3.23	0.06931	T	-0.14	0.09297	N	0.093	0.08925	-1.0085	0.27385	T	0.009	0.03011	T	10	0.018089175	0.00391	T	0.002348	0.04562	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.4672761937675989	0.46646	0.467027789823	0.46087	0.20876994729	0.00760	T	0.001825	0.04911	T	-0.557798	0.00262	T	-0.728496	0.04396	T	0.014523440040648	0.00296	T	0.529847	0.17555	T	0.04848564	0.08459	0.027659709	0.00936	0.04848564	0.08459	0.027659709	0.00936	-2.673	0.07079	T	.	.	0.092	0.20741	B	.;.	.;.	0.895281	0.12690	9.212	0.82851387977673285	0.14409	0.02096	0.06219	N	AEFBI	0.040626	0.06068	N	-1.26262183710425	0.04135	0.1860738	-1.4285917185349	0.02970	0.1376382	0.999633969423284	0.41205	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	3.68	-6.59	0.01663	-1.703000	0.02000	0.127000	0.14995	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2546:0.3437:0.1693:0.2324	0.900	0.01192	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	312.83	33	chr7	139055249	.	G	A	312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.075;SOR=0.795	GT:AD:DP:GQ:PL	0/1:24,14:38:99:323,0,561	5	0	1	0
chr7	139080057	139080057	C	T	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon4:c.G884A:p.R295H,ZC3HAV1:NM_020119:exon4:c.G884A:p.R295H,ZC3HAV1:NM_024625:exon4:c.G884A:p.R295H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00216074322508	0.0046	0.00179712	0.0026	0.0010	0.0022	0	0.0005	0.0040	0	0.0004	0.0029236	452	154602	rs138485120	0.0049	0.0049	0.0052	0.0046	0.0059	0.0048	0.0048	0.0057	0.0057	0.0008	0.0037	0.0013	2.519e-05	0.0005	0.0003	0.0059	0.0059	0.0003	0.0032	0.0032	0.0033	0.0030	0.0051	0.0029	0.0028	0.0047	0.0045	0.0012	0	0.0050	0.0009	0	0.0002	0	0.0051	0.0024	0.0002	1.0	0.00964	T	0.925	0.04492	T	0.0	0.02946	B	0.0	0.01387	B	0.941431	0.08351	N	0.971401	1	0.08975	N	-0.975	0.01213	N	1.48	0.31731	T	0.83	0.01787	N	0.016	0.00485	-0.9971	0.30728	T	0.020	0.08266	T	10	0.0058557093	0.00131	T	0.002161	0.04043	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.17947201192858023	0.17866	0.349746417612	0.36819	0.255286157131	0.04346	T	3.76E-4	0.01461	T	-0.689858	0.00042	T	-0.760681	0.03088	T	0.000426794268518085	0.00003	T	0.266473	0.04381	T	0.0146249235	0.00101	0.020581229	0.00143	0.0146249235	0.00101	0.020581229	0.00143	-4.709	0.33513	T	.	.	0.064	0.05317	B	.;.;.	.;.;.	-0.084376	0.03735	0.771	0.26267169693701076	0.01250	0.00485	0.02305	N	AEFBCI	0.011154	0.00093	N	-1.40222623849382	0.02619	0.115914	-1.34620884646232	0.03851	0.1804661	0.00424872237310791	0.10472	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.41	2.0	0.25495	-0.055000	0.11763	-0.748000	0.07590	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2051:0.0:0.7949	6.232	0.19953	443	0.79878	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1949.83	34	chr7	139080057	.	C	T	1949.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.983;DP=359;ExcessHet=0;FS=4.392;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.49;SOR=0.975	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	5	0	1	0
chr7	139614492	139614492	G	A	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_022740:exon8:c.C1784T:p.A595V	.	.	.	.	.	.	.	.	0.4412	0.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0474481057809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.328e-07	7.561e-06	0	1.712e-06	1.039e-06	0	0	.	.	0	0	0	0	0	0	1.039e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.489	0.15059	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.998956	0.81001	D	.	.	.	0.67	0.52187	T	-0.58	0.17417	N	0.529	0.61511	-1.0705	0.09304	T	0.093	0.35390	T	8	0.30987635	0.48470	T	0.047448	0.62924	D	0.062	0.17934	0.066	0.00312	0.553613530234	0.55019	0.32720391015854233	0.32633	0.44134038575	0.44124	0.517784118652	0.41314	T	0.161266	0.50545	T	-0.149983	0.28314	T	-0.453216	0.27341	T	0.583903759283412	0.35769	D	0.634537	0.27701	T	0.048329554	0.08406	0.09353187	0.22095	0.048329554	0.08406	0.09353187	0.22094	-1.692	0.02208	T	.	.	0.104	0.18705	B	.;.	.;.	3.923317	0.57294	23.8	0.99256542791234592	0.57055	0.93816	0.59273	D	AEFBCI	0.657221	0.62893	D	0.417016637654045	0.62357	4.450356	0.441178988619543	0.64151	4.663966	0.999999573393191	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.78367	0.99111	0	0.635551	0.53088	0	.	.	5.39	4.5	0.54382	5.853000	0.69232	8.686000	0.78060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0736:0.0:0.9264:0.0	13.876	0.63153	899	0.25060	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	49.9	62	chr7	139614492	.	G	A	49.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.509;DP=261;ExcessHet=0;FS=36.394;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=-0.09;SOR=5.544	GT:AD:DP:GQ:PL	./.:36,0:36:0:0,0,625	2	0	1	3
chr7	140020029	140020029	C	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon12:c.C1349T:p.P450L,TBXAS1:NM_030984:exon12:c.C1369T:p.R457C,TBXAS1:NM_001061:exon13:c.C1532T:p.P511L,TBXAS1:NM_001314028:exon13:c.C1475T:p.P492L,TBXAS1:NM_001166253:exon14:c.C1670T:p.P557L,TBXAS1:NM_001166254:exon15:c.C1331T:p.P444L,TBXAS1:NM_001130966:exon17:c.C1532T:p.P511L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	1609537	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.321	.	0.0005	0.0183706	0.0071	0.0017	8.643e-05	0.0897	0.0036	0.0001	0.0022	0.0018	0.0065394	1011	154602	rs13306050	0.0024	0.0024	0.0025	0.0024	0.0728	0.0024	0.0023	0.0706	0.0697	0.0015	0.0002	0.0003	0.0728	0.0036	0	4.857e-05	0.0033	0.0016	0.0038	0.0038	0.0034	0.0042	0.0854	0.0035	0.0034	0.0789	0.0763	0.0015	0	0.0006	0	0.0854	0.0015	0	0.0001	0.0047	0.0058	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.48	0.70249	T	-9.36	0.98352	D	0.767	0.76481	-0.5676	0.66111	T	0.048	0.20395	T	10	0.005150974	0.00112	T	.	.	.	0.631	0.85821	.	.	0.908992176636	0.90808	0.5583692594375584	0.55763	0.563864899542	0.52805	0.489147573709	0.37320	T	0.083382	0.37042	T	-0.165641	0.25897	T	0.0587097	0.74159	D	0.10641807298129	0.13049	T	0.928507	0.73679	D	.	.	.	.	.	.	.	.	-11.604	0.82869	D	.	.	0.420	0.60646	A	.;.;.;.;.	.;.;.;.;.	5.250729	0.88155	29.5	0.9984492287373915	0.92489	0.97225	0.73430	D	AEFBI	0.800871	0.72673	D	0.685126872175678	0.78659	6.916077	0.648669992251971	0.78511	6.891135	0.99999966343216	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	5.42	5.42	0.78666	5.939000	0.69894	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	17.761	0.88373	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	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	604.83	38	chr7	140020029	.	C	T	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.554;DP=231;ExcessHet=0;FS=3.91;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.427;SOR=0.314	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr7	141919054	141919054	T	C	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.T179C:p.F60S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00327194008206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286817106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.762	0.56524	P	.	.	.	.	0.831947	0.28748	N	2.96	0.85114	M	6.62	0.00515	T	-7.06	0.93879	D	0.382	0.42345	-1.1060	0.03437	T	0.006	0.02168	T	9	0.6451462	0.69283	D	0.003272	0.07237	T	0.179	0.44899	0.577	0.70217	0.610979500378	0.60784	0.2988721825737309	0.29800	0.333137343093	0.35351	0.248419106007	0.03603	T	0.034775	0.23458	T	-0.0229301	0.48434	T	-0.270714	0.47747	T	0.981489956378937	0.73938	D	0.790621	0.43132	T	0.37908354	0.59250	0.63010573	0.78424	0.37908354	0.59250	0.63010573	0.78425	-8.572	0.64904	D	.	.	0.340	0.55909	B	.;.	.;.	3.694538	0.52654	23.3	0.99828666610906613	0.91026	0.98086	0.79479	D	AEFI	0.574962	0.57754	D	0.460857301675108	0.64823	4.745556	0.317124283775484	0.56546	3.81803	0.379782192425482	0.19950	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	3.88	0.43959	3.546000	0.53409	.	.	0.654000	0.53741	0.981000	0.35396	1.000000	0.68203	0.035000	0.13729	0.0:0.0:0.0:1.0	10.985	0.46733	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1542.83	35	chr7	141919054	.	T	C	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.138;DP=311;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.253;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	5	0	1	0
chr7	142052399	142052399	A	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon25:c.A2911G:p.N971D,MGAM:NM_004668:exon25:c.A2911G:p.N971D	.	436	1079	6	1	0	8	0.00369344	.	.	.	750467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00359324346926	0.0002	0.00139776	0.0013	0	9.966e-05	0	0	0.0004	0	0.0081	0.0010479	162	154602	rs199621773	0.0007	0.0007	0.0004	0.0009	0.0071	0.0006	0.0006	0.0066	0.0064	2.988e-05	0.0001	0.0013	0	0	0.0024	0.0002	0.0009	0.0071	0.0005	0.0005	0.0004	0.0006	0.0087	0.0004	0.0004	0.0067	0.0059	9.631e-05	0	6.545e-05	0	0	0	0	0.0004	0.0009	0.0087	1.0	0.02448	T	1.0	0.02685	T	0.0	0.02946	B	0.001	0.04355	B	0.459360	0.04861	N	1.424420	1	0.08975	N	-0.405	0.02972	N	2.58	0.13434	T	0.3	0.04091	N	0.147	0.18784	-0.9582	0.39516	T	0.016	0.06664	T	10	0.0054890513	0.00121	T	0.003593	0.08216	T	0.010	0.01040	.	.	0.115124310173	0.11017	0.13987696902726343	0.13910	0.0469682851253	0.05113	0.370541006327	0.20909	T	0.169618	0.51706	T	-0.782468	0.00011	T	-0.892593	0.00556	T	0.0033447629863122	0.00035	T	0.0506949	0.00362	T	0.0723746	0.16094	0.088261254	0.20568	0.0723746	0.16094	0.088261254	0.20568	-5.597	0.42765	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	0.361333	0.07339	3.956	0.38477931052707381	0.02597	0.00628	0.02764	N	AEFI	0.037808	0.05257	N	-1.23886493622073	0.04448	0.2007718	-1.22767873641946	0.05470	0.260691	2.75826227588431E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-3.09	0.05006	-0.259000	0.08742	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.638000	0.32368	0.1758:0.5655:0.2587:0.0	8.769	0.33879	.	.	P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain;P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain;P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1771.83	38	chr7	142052399	.	A	G	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.338;DP=352;ExcessHet=0;FS=2.325;MLEAC=1;MLEAF=0.083;MQ=59.79;MQRankSum=-1.215;QD=14.29;ReadPosRankSum=0.361;SOR=0.503	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1315	5	0	1	0
chr7	142772171	142772171	G	T	exonic	PRSS2	.	stopgain	PRSS2:NM_001303414:exon2:c.G163T:p.E55X,PRSS2:NM_002770:exon2:c.G163T:p.E55X	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373988778	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0005	0.0005	0	0.0002	0.0003	0	1.872e-05	0.0009	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.72e-05	0.0002	0.0001	2.412e-05	0	0	0.0006	0	9.422e-05	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.921126	0.57248	23.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076000	0.14570	.	.	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	707.83	210	chr7	142772171	.	G	T	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.64;DP=875;ExcessHet=0;FS=1.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.127;SOR=0.448	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	5	0	1	0
chr7	142925581	142925581	C	A	exonic	TRPV5	.	nonsynonymous SNV	TRPV5:NM_019841:exon8:c.G1070T:p.G357V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.030358865226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.268	0.25286	T	.	.	.	.	.	.	0.182213	0.17072	N	0.639360	0.997412	0.43869	D	.	.	.	-1.93	0.84842	D	-1.76	0.41618	N	0.166	0.17553	-0.8160	0.54183	T	0.345	0.70980	T	10	0.169408	0.31547	T	0.030359	0.52685	D	0.125	0.34456	0.431	0.48007	0.862882302953	0.86155	0.2973937380847846	0.29652	0.195192585736	0.21857	0.248937547207	0.03656	T	0.188193	0.81845	T	-0.0985683	0.36662	T	-0.379363	0.35797	T	0.117388807237148	0.14172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.14888	B	.;.;.	.;.;.	0.197067	0.05823	2.265	0.93658158496426036	0.23546	0.19782	0.20793	N	ALL	0.194929	0.32199	N	-0.860453289779728	0.11794	0.5711325	-0.859575832108959	0.13058	0.6752886	0.999999995917916	0.74766	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	5.18	0.00282	0.13374	-1.163000	0.03248	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.940000	0.48062	0.121:0.5456:0.1238:0.2096	3.028	0.05728	692	0.58729	Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.08333	1367.83	36	chr7	142925581	.	C	A	1367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.965;DP=272;ExcessHet=0;FS=12.889;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.712;SOR=1.606	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	5	0	1	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.005848	0.000000	0.000000	0.012195	0.003788	0.08333	2144.83	36	chr7	142940391	.	C	T	2144.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.468;DP=340;ExcessHet=0;FS=5.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.198;SOR=1.133	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	5	0	1	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q,TMEM139:NM_153345:exon2:c.G245A:p.R82Q,TMEM139:NM_001242773:exon3:c.G245A:p.R82Q,TMEM139:NM_001242775:exon3:c.G245A:p.R82Q,TMEM139:NM_001282877:exon3:c.G245A:p.R82Q,TMEM139:NM_001242774:exon4:c.G245A:p.R82Q	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	.	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.009511	0.008772	0.000000	0.008621	0.012195	0.003788	0.08333	289.83	35	chr7	143286202	.	G	A	289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.352;DP=218;ExcessHet=0;FS=3.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=1.76;SOR=0.283	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	5	0	1	0
chr7	143727654	143727654	G	A	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon8:c.G2435A:p.R812H,TCAF2:NM_001363538:exon8:c.G2747A:p.R916H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00148101578224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326914559	9.055e-05	0.0001	7.345e-05	0.0001	0.0001	7.027e-05	6.239e-05	8.146e-05	7.209e-05	0	0.0001	6.66e-05	3.134e-05	0	0	0.0001	0.0002	0	0.0001	0.0001	6.391e-05	0.0002	0.0016	7.916e-05	6.171e-05	0.0007	0.0005	7.86e-05	0	0	0	0.0016	0	0	9.884e-05	0	0	0.448	0.09687	T	0.609	0.08079	T	0.002	0.09854	B	0.002	0.06944	B	0.020489	0.01533	N	3.053340	1	0.08975	N	.	.	.	.	.	.	-0.66	0.19085	N	0.079	0.11340	-1.0465	0.15389	T	0.065	0.26772	T	8	0.03264934	0.01421	T	0.001481	0.02267	T	0.006	0.00375	0.266	0.21261	0.0138822411134	0.00435	0.265013133573278	0.26414	.	.	.	.	.	0.017297	0.14133	T	-0.328792	0.06204	T	-0.710063	0.05291	T	0.183281242847443	0.19440	T	0.457154	0.13128	T	0.020681413	0.00636	0.02036236	0.00132	0.020681413	0.00636	0.02036236	0.00132	-4.483	0.31240	T	.	.	0.070	0.21653	B	.;.;.	.;.;.	0.472963	0.08423	5.182	0.47286707127217859	0.03854	0.01672	0.05346	N	AEFI	0.074625	0.14962	N	-1.28538882760982	0.03850	0.1727577	-1.45520269346996	0.02723	0.1257825	0.0760940596815247	0.15717	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.92	-7.47	0.01221	-1.388000	0.02638	-2.309000	0.03918	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.0:0.5215:0.2801	6.079	0.19154	781	0.47532	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	49.81	9	chr7	143727654	.	G	A	49.81	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.21;DP=42;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=25;MQRankSum=0;QD=4.98;ReadPosRankSum=-0.549;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:59:59,0,178	4	0	1	1
chr7	143756430	143756430	A	G	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.T1229C:p.I410T	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.00539137	0.0015	0.0169	0.0007	0	0	4.535e-05	0.0011	6.098e-05	0.001326	205	154602	rs201706723	0.0004	0.0005	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0006	0	0	0	0.0004	4.063e-05	0.0007	8.174e-05	0.0033	0.0045	0.0033	0.0034	0.0117	0.0031	0.0030	0.0108	0.0104	0.0117	0	0.0011	0	0	0	0	7.377e-05	0.0014	0	.	.	.	0.038	0.51421	D	0.222	0.30359	B	0.098	0.30479	B	.	.	.	.	.	.	.	1.355	0.33814	L	3.46	0.05249	T	.	.	.	0.195	0.21449	.	.	.	.	.	.	.	0.0044006705	0.00090	T	.	.	.	.	.	.	.	0.193865811164	0.18958	0.06212445528328905	0.06152	.	.	0.60335367918	0.53377	T	0.018	0.14269	T	-0.532786	0.00370	T	-0.527056	0.19582	T	.	.	.	.	.	.	0.06796443	0.14765	0.1610289	0.37477	0.06796443	0.14765	0.1610289	0.37477	-3.357	0.14484	T	.	.	0.085	0.10304	B	.	.	1.290614	0.16917	12.84	0.17848029377090024	0.00537	0.08613	0.14518	N	AEFI	0.040037	0.05899	N	.	.	.	.	.	.	1.66587043468156E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.101684	0.03063	0	.	.	0.109	0.109	0.13884	2.198000	0.42339	5.824000	0.50107	0.247000	0.18307	0.987000	0.36337	0.636000	0.25890	0.008000	0.08271	.	.	.	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001636	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2229.83	295	chr7	143756430	.	A	G	2229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.107;DP=472;ExcessHet=0;FS=6.664;MLEAC=1;MLEAF=0.083;MQ=53.56;MQRankSum=-0.399;QD=7.56;ReadPosRankSum=0.878;SOR=1.052	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	5	0	1	0
chr7	143876443	143876443	G	A	exonic	TCAF1	.	nonsynonymous SNV	TCAF1:NM_001206938:exon2:c.C166T:p.R56C,TCAF1:NM_014719:exon2:c.C166T:p.R56C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0191179172707	.	.	8.536e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs774779542	4.804e-06	6.156e-06	6.827e-06	2.76e-06	5.039e-05	2e-06	1.29e-06	8.35e-06	3.12e-06	0	0	3.905e-05	5.039e-05	0	0	1.802e-06	0	2.342e-05	6.571e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.042	0.78490	D	0.008	0.67890	D	0.998	0.73220	D	0.786	0.57542	P	0.015219	0.28310	N	0.292911	0.999032	0.45921	D	.	.	.	1.94	0.22678	T	-3.33	0.83763	D	0.537	0.56833	-1.0865	0.06138	T	0.083	0.32671	T	10	0.31102324	0.48575	T	0.019118	0.41395	T	0.156	0.40720	0.519	0.62066	0.276898752692	0.27294	0.5926767897173779	0.59197	0.290619426683	0.31473	0.384252339602	0.22858	T	0.102291	0.46157	T	-0.141804	0.29604	T	-0.215767	0.53143	T	0.840448319911957	0.49364	D	0.937906	0.86380	D	0.13664491	0.31669	0.116094865	0.28026	0.13664491	0.31668	0.116094865	0.28025	-6.637	0.51335	T	.	.	0.098	0.22500	B	.;.;.;.;.;.	.;.;.;.;.;.	4.304723	0.65759	24.9	0.99882814021748312	0.95892	0.50722	0.28729	D	AEFBI	0.306379	0.41354	N	0.16290446202253	0.49424	3.143041	0.050132547332433	0.42077	2.538895	0.999936363997837	0.46732	0.758104	0.99027	0	0.633656	0.55848	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.01	3.09	0.34677	1.607000	0.36447	4.910000	0.45943	0.618000	0.50648	0.380000	0.26006	1.000000	0.68203	0.621000	0.31922	0.0:0.0:0.578:0.422	8.955	0.34974	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1751.83	33	chr7	143876443	.	G	A	1751.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.62;DP=301;ExcessHet=0;FS=2.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.098;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	5	0	1	0
chr7	144050404	144050404	G	A	exonic	OR2A5	.	startloss	OR2A5:NM_012365:exon2:c.G3A:p.M1?	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0044	0.00339457	0.0014	0.0141	0.0005	0	0	0.0001	0	0	0.0012225	189	154602	rs77440366	0.0004	0.0004	0.0004	0.0004	0.0150	0.0004	0.0004	0.0139	0.0134	0.0150	0.0004	0.0017	0	0	0.0013	1.763e-05	0.0010	6.983e-05	0.0041	0.0041	0.0043	0.0040	0.0144	0.0039	0.0038	0.0135	0.0131	0.0144	0	0.0011	0.0020	0	0	0	2.941e-05	0.0019	0.0002	0.022	0.48642	D	0.051	0.47828	T	0.2	0.29645	B	0.216	0.37572	B	.	.	.	.	1	0.81001	D	.	.	.	7.93	0.00326	T	-2.12	0.48184	N	0.747	0.74644	-0.0892	0.80345	T	0.001	0.00188	T	8	0.004324734	0.00087	T	.	.	.	0.192	0.47115	0.989	0.99885	0.702360448851	0.69978	0.06836997745929536	0.06774	.	.	.	.	.	0.007002	0.06422	T	-0.546653	0.00305	T	-0.545681	0.17742	T	0.0168786166447931	0.00440	T	.	.	.	0.43373072	0.62996	0.40608075	0.64991	0.43373072	0.62996	0.40608075	0.64991	-7.061	0.54478	T	.	.	.	.	.	.;.	.;.	2.190768	0.27933	17.63	0.99492565157554458	0.67516	0.89974	0.50798	D	AEFGBI	0.019601	0.00696	N	0.136706085074748	0.48182	3.033857	0.240104612807102	0.52088	3.386131	0.999190451652627	0.38711	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.06	5.06	0.67838	1.393000	0.34106	4.893000	0.45784	0.661000	0.55757	0.106000	0.22914	1.000000	0.68203	0.360000	0.25886	0.0:0.0:1.0:0.0	13.781	0.62573	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1285.83	120	chr7	144050404	.	G	A	1285.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.525;DP=440;ExcessHet=0;FS=3.399;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.542;SOR=0.415	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	5	0	1	0
chr7	144074575	144074575	A	G	exonic	OR2A25	.	nonsynonymous SNV	OR2A25:NM_001004488:exon1:c.A356G:p.Y119C	.	426	1095	1	0	0	1	0.000456413	.	.	.	3570650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00629318252559	7.7e-05	.	4.132e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs377302946	2.873e-05	2.873e-05	2.586e-05	3.163e-05	0.0004	2.151e-05	1.908e-05	0.0002	0.0002	0.0004	0	0	0	0	0	5.396e-06	0.0004	1.159e-05	5.911e-05	5.907e-05	6.425e-05	5.374e-05	0.0002	3.076e-05	2.209e-05	9.542e-05	6.946e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	.	.	.	.	0.883262	0.35795	D	3.14	0.88230	M	7.03	0.00453	T	-8.14	0.96736	D	0.352	0.39356	-0.9151	0.46207	T	0.005	0.01651	T	9	0.2730757	0.44854	T	0.006293	0.16522	T	0.076	0.22200	.	.	0.523444149082	0.51990	0.3698716564375882	0.36901	0.0163493297543	0.01574	0.330320894718	0.14983	T	0.009716	0.08828	T	-0.363009	0.03963	T	-0.453237	0.27339	T	0.431353978343276	0.30111	T	0.874613	0.58533	D	0.46433145	0.64941	0.6290757	0.78367	0.46433145	0.64941	0.6290757	0.78368	-6.475	0.50093	T	.	.	0.096	0.15430	B	.;.;.	.;.;.	3.608339	0.50997	23.0	0.99663350843767484	0.78074	0.72550	0.35507	D	AEFBHCI	0.392376	0.47045	N	0.405833151990645	0.61743	4.379544	0.258726197702562	0.53145	3.485119	0.00335562551860974	0.10072	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.88	2.41	0.28644	1.889000	0.39352	1.353000	0.25823	-0.057000	0.16691	0.795000	0.29657	0.121000	0.22902	0.955000	0.50612	0.824:0.0:0.176:0.0	8.097	0.29996	866	0.32446	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	.	.	.	.	.	.	.	.	0.08333	1617.83	102	chr7	144074575	.	A	G	1617.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.68;DP=506;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.348;SOR=0.759	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1628,0,2049	5	0	1	0
chr7	144232351	144232351	G	C	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.C493G:p.L165V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0032322132768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	.	.	.	.	.	.	0.024822	0.26194	U	0.000000	1	0.81001	D	.	.	.	8.3	0.00261	T	-2.68	0.57275	D	0.519	0.54932	-0.9524	0.40555	T	0.001	0.00378	T	9	0.24370903	0.41590	T	0.003232	0.07117	T	0.062	0.17934	0.506	0.60078	0.20808081866	0.20439	0.04378174034092069	0.04322	.	.	0.369973540306	0.20828	T	.	.	.	-0.244797	0.14743	T	-0.589411	0.13717	T	0.818839907646179	0.47685	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.665412	0.34737	19.71	0.99595206584388074	0.73866	0.37204	0.25708	N	AEFGI	.	.	.	-0.352599497614675	0.27177	1.488973	-0.561611956953805	0.20498	1.104642	0.00154549063210378	0.08631	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.55	1.65	0.23015	0.256000	0.18120	-0.543000	0.08571	-0.378000	0.05405	0.050000	0.21411	0.000000	0.08366	0.496000	0.28927	0.1454:0.0:0.8546:0.0	7.160	0.24835	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	474.75	24	chr7	144232351	.	G	C	474.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.807;DP=113;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=26.69;MQRankSum=-1.234;QD=13.96;ReadPosRankSum=2.29;SOR=0.941	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,441	4	0	1	1
chr7	147044015	147044015	C	T	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	.	.	.	.	.	.	.	.	.	635850	not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.776	0.743037369054	7.7e-05	.	4.118e-05	0	8.637e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs375032955	3.147e-05	3.147e-05	2.314e-05	3.988e-05	0.0003	2.412e-05	2.158e-05	6.092e-05	2.521e-05	0	8.944e-05	0	0	0	0.0003	3.327e-05	4.968e-05	0	5.257e-05	5.254e-05	5.14e-05	5.38e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	6.548e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.011600	0.29474	N	0.205057	0.61318	0.32639	D	3.03	0.86425	M	-4.86	0.98263	D	-5.65	0.86988	D	0.878	0.87590	1.063	0.98415	D	0.957	0.98612	D	10	0.93919224	0.93246	D	0.743037	0.97944	D	0.776	0.92501	.	.	0.921655970581	0.92086	0.5921860038201401	0.59148	0.553458847318	0.52117	0.259106755257	0.04785	T	0.893348	0.97851	D	0.119306	0.66303	D	0.125281	0.78583	D	0.859313607215881	0.50989	D	0.924807	0.72410	D	0.5249502	0.68543	0.3726928	0.62472	0.4613261	0.64754	0.34786832	0.60434	-12.257	0.86080	D	.	.	0.314	0.54071	B	.;.	.;.	4.959477	0.81993	27.7	0.99914222276497067	0.98309	0.95977	0.66979	D	AEFI	0.698999	0.65649	D	0.599252172019041	0.73129	5.915799	0.520470853961526	0.69370	5.350518	0.00669783986257984	0.11284	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	3.000000	0.49169	3.935000	0.40562	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.789000	0.37270	0.1621:0.8378:0.0:0.0	12.938	0.57722	946	0.12043	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2106.06	37	chr7	147044015	.	C	T	2106.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.18;DP=303;ExcessHet=0.4139;FS=1.974;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=2;SOR=0.886	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1111,0,879	4	0	2	0
chr7	149006052	149006052	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon8:c.G1136T:p.G379V,PDIA4:NM_001371245:exon8:c.G1064T:p.G355V,PDIA4:NM_004911:exon8:c.G1133T:p.G378V	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00913991251055	.	.	0.0004	0	0	0	0	0.0002	0.0067	0.0018	0.000304	47	154602	rs374904189	0.0001	0.0001	7.077e-05	0.0002	0.0010	0.0001	9.894e-05	0.0008	0.0007	0	0	0	0	3.809e-05	0.0002	6.232e-05	0.0004	0.0010	5.913e-05	5.91e-05	5.137e-05	6.725e-05	0.0008	3.077e-05	2.21e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.879e-05	0.0005	0.0008	0.088	0.32296	T	0.069	0.43913	T	0.011	0.15914	B	0.005	0.11217	B	0.047296	0.23358	N	0.489229	0.999824	0.49512	D	1.195	0.30194	L	2.17	0.19020	T	-3.02	0.62630	D	0.316	0.35620	-1.0827	0.06833	T	0.038	0.16333	T	10	0.02521503	0.00723	T	0.00914	0.24036	T	0.027	0.05988	0.345	0.33950	0.389283895039	0.38539	.	.	0.105681853306	0.11943	0.254233837128	0.04227	T	0.09834	0.40207	T	-0.533994	0.00364	T	-0.5752	0.14976	T	0.0215518811329841	0.00859	T	0.585341	0.21331	T	0.13728964	0.31794	0.14012216	0.33410	0.13728964	0.31794	0.14012216	0.33409	-6.262	0.48421	T	.	.	.	.	.	.	.	1.223842	0.16181	12.37	0.80368516223857656	0.13170	0.63720	0.32177	D	ALL	0.817578	0.73903	D	-0.519934542841312	0.21435	1.137588	-0.485862399280656	0.22542	1.224898	0.999999999998743	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.11	1.76	0.23776	1.165000	0.31432	-1.179000	0.06102	0.599000	0.40250	0.966000	0.33990	0.000000	0.08366	0.210000	0.22183	0.0:0.3486:0.0:0.6514	5.722	0.17264	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	447.83	35	chr7	149006052	.	C	A	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=219;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.93;SOR=0.384	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1174	5	0	1	0
chr7	149021083	149021083	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon2:c.G153T:p.E51D,PDIA4:NM_001371245:exon2:c.G153T:p.E51D,PDIA4:NM_004911:exon2:c.G153T:p.E51D	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00466184016796	0.0025	0.000399361	0.0029	0.0004	0.0005	0	0.0022	0.0046	0.0026	0.0012	0.0003946	61	154602	rs149592400	0.0025	0.0025	0.0025	0.0025	0.0023	0.0024	0.0024	0.0022	0.0022	0.0003	0.0003	0.0232	2.52e-05	0.0017	0.0016	0.0023	0.0035	0.0018	0.0018	0.0018	0.0019	0.0018	0.0022	0.0017	0.0016	0.0020	0.0018	0.0004	0	0.0002	0.0248	0	0.0010	0.0034	0.0022	0.0019	0.0010	0.453	0.46129	T	0.339	0.18071	T	0.0	0.02946	B	0.0	0.01387	B	0.090182	0.20388	N	0.514245	0.999999	0.08975	N	0.105	0.08473	N	2.37	0.24285	T	0.1	0.13418	N	0.176	0.18920	-1.0597	0.11830	T	0.018	0.07234	T	10	0.001894474	0.00026	T	0.004662	0.11566	T	0.069	0.20116	0.247	0.18293	0.0762999501168	0.06990	.	.	0.0742760297956	0.08328	0.289083749056	0.08789	T	0.003849	0.15966	T	-0.587277	0.00174	T	-0.621286	0.11084	T	0.0116491407316542	0.00178	T	0.450355	0.12714	T	0.04026153	0.05713	0.022070311	0.00240	0.04026153	0.05712	0.022070311	0.00240	-2.676	0.07103	T	.	.	0.064	0.02829	B	.;.	.;.	-1.445676	0.00329	0.006	0.64762786055355115	0.07583	0.03068	0.07977	N	AEFDBI	0.099891	0.20098	N	-1.69837151909715	0.00848	0.03666495	-1.78337491715008	0.00814	0.03633175	0.999999999760165	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.51	-9.03	0.00632	-3.369000	0.00549	-20.000000	0.00162	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.791000	0.37352	0.3283:0.1765:0.2244:0.2708	0.136	0.00073	946	0.12043	Thioredoxin domain;Thioredoxin 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	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	1026.83	33	chr7	149021083	.	C	A	1026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.568;DP=303;ExcessHet=0;FS=1.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.82;SOR=0.851	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	5	0	1	0
chr7	149070915	149070915	C	A	exonic	ZNF786	.	nonsynonymous SNV	ZNF786:NM_152411:exon4:c.G1857T:p.R619S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0184264491292	7.7e-05	.	8.312e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs367975181	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.86e-06	8.42e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.349e-05	6.624e-05	0	1.315e-05	1.314e-05	0	2.692e-05	6.552e-05	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.971	0.72444	D	0.000829	0.41547	D	0.000000	0.873366	0.35606	D	1.3	0.32576	L	2.16	0.19166	T	-3.72	0.70793	D	0.497	0.56919	-0.8641	0.50966	T	0.099	0.36932	T	10	0.21292424	0.37768	T	0.018426	0.40491	T	0.231	0.53208	0.542	0.65446	0.0884992946249	0.08302	0.23978196816891484	0.23892	0.365106079287	0.38114	0.785299360752	0.79729	T	0.249055	0.61894	T	-0.0550667	0.43673	T	-0.30139	0.44578	T	0.899898886680603	0.55229	D	0.768023	0.39669	T	0.42188305	0.62217	0.313276	0.57326	0.42188305	0.62217	0.313276	0.57325	-8.366	0.63538	D	.	.	0.921	0.89791	P	.;.	.;.	1.672490	0.21320	15.15	0.97415884224472471	0.33850	0.55496	0.29879	D	AEFDBCI	0.179807	0.30710	N	-0.624114430372953	0.18221	0.9442997	-0.965242524934565	0.10571	0.5332852	0.999990493967583	0.74766	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.61	-6.97	0.01459	-0.900000	0.04205	-2.899000	0.03249	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.887000	0.42601	0.0:0.1458:0.1088:0.7455	11.414	0.49181	952	0.10565	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	.	.	.	.	.	.	.	.	0.08333	1179.83	45	chr7	149070915	.	C	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.611;DP=270;ExcessHet=0;FS=4.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.915;SOR=0.407	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1386	5	0	1	0
chr7	149492969	149492969	T	C	exonic	ZNF746	.	nonsynonymous SNV	ZNF746:NM_001163474:exon4:c.A410G:p.Y137C,ZNF746:NM_001363517:exon4:c.A455G:p.Y152C,ZNF746:NM_152557:exon4:c.A410G:p.Y137C	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0189160126902	.	0.000399361	0.0002	0.0001	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs367694089	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0051	0.0045	0.0004	0.0004	0	0	0	0.0068	0.0001	0.0006	0.0001	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0012	0.0010	2.408e-05	0	0.0017	0	0	0	0	0.0002	0.0005	0	0.004	0.68238	D	0.036	0.52389	D	0.999	0.77913	D	0.995	0.83170	D	0.000867	0.41335	D	0.000000	0.991291	0.41354	D	1.075	0.27130	L	5.63	0.00800	T	-6.2	0.90371	D	0.569	0.59816	-0.5558	0.66565	T	0.008	0.02842	T	10	0.0501166	0.04697	T	0.018916	0.41136	T	0.128	0.35103	.	.	0.387689773709	0.38380	0.298950773867413	0.29808	1.76612806109	0.91193	0.760063707829	0.75939	T	0.136133	0.46834	T	-0.279822	0.10686	T	-0.342162	0.40100	T	0.140211425573068	0.16294	T	0.276272	0.05963	T	0.40703702	0.61217	0.35175222	0.60764	0.40703702	0.61218	0.35175222	0.60764	-6.325	0.48920	T	.	.	0.686	0.79605	P	.;.;.;.	.;.;.;.	3.881342	0.56413	23.7	0.99338666480467264	0.60091	0.60536	0.31223	D	AEFBCI	0.186218	0.31353	N	-0.0228799816615872	0.40821	2.430861	0.0232143051778615	0.40794	2.440404	0.963454690115732	0.28692	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	0.333000	0.19512	7.831000	0.70117	0.661000	0.55757	0.037000	0.20830	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	13.240	0.59420	946	0.12043	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	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.010101	0.009511	0.014620	0.000000	0.025862	0.003049	0.000000	0.08333	1399.83	33	chr7	149492969	.	T	C	1399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.39;DP=266;ExcessHet=0;FS=1.882;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.397;SOR=0.495	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1410,0,1288	5	0	1	0
chr7	149765079	149765079	C	T	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.G1423A:p.V475I	.	425	1061	34	2	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00139776	0.0049	0.0015	0.0114	0	0	0.0099	0	0.0016	0.0017982	278	154602	rs200292588	0.0052	0.0049	0.0052	0.0051	0.0133	0.0050	0.0050	0.0108	0.0098	0.0017	0.0039	0.0049	3.083e-05	0.0003	0.0133	0.0058	0.0054	0.0016	0.0036	0.0036	0.0039	0.0032	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0035	0.0081	0	0.0007	0.0274	0.0058	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.124	0.26825	B	0.037	0.23121	B	0.141921	0.18261	U	0.290048	1	0.20048	N	-0.05	0.04954	N	2.48	0.14657	T	-0.08	0.08187	N	0.036	0.01068	-0.9619	0.38819	T	0.015	0.05849	T	10	0.0051863194	0.00113	T	.	.	.	0.028	0.06331	.	.	0.110078149338	0.10416	0.12038871058306477	0.11965	0.90605360512	0.70852	0.896112501621	0.95997	D	0.002422	0.01816	T	-0.710448	0.00032	T	-0.790813	0.02142	T	0.0120901311861236	0.00192	T	0.452755	0.12846	T	0.02658357	0.01734	0.05044717	0.07918	0.02658357	0.01734	0.05044717	0.07917	-5.618	0.42956	T	.	.	0.161	0.35643	B	.	.	1.442480	0.18620	13.84	0.97761160531471991	0.35807	0.05583	0.11485	N	AEFDBHCI	0.075218	0.15099	N	-0.867315500954441	0.11627	0.5620979	-0.751374697420605	0.15689	0.8263525	0.999999362224792	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	3.82	2.94	0.33188	-0.181000	0.09734	3.219000	0.36843	-0.193000	0.09282	0.000000	0.06391	0.282000	0.24114	0.046000	0.14843	0.0:0.8983:0.0:0.1017	10.110	0.41728	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012605	0.011494	0.015449	0.012121	0.000000	0.000000	0.025806	0.000000	0.08333	180.83	39	chr7	149765079	.	C	T	180.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.428;DP=179;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=1.07;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	5	0	1	0
chr7	149765568	149765568	T	C	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.A934G:p.K312E	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0291354652555	.	.	2.271e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs780155517	5.566e-06	5.472e-06	1.38e-06	9.821e-06	7.201e-05	2.39e-06	1.73e-06	3.083e-05	2.095e-05	0	0	0	0	0	0	0	3.355e-05	7.201e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.018	0.59732	D	0.953	0.54283	P	0.473	0.46845	P	0.003994	0.34245	U	0.000000	1	0.81001	D	1.04	0.26193	L	3.19	0.07353	T	-1.8	0.42384	N	0.132	0.12770	-1.0329	0.19522	T	0.017	0.06998	T	10	0.13895369	0.26423	T	0.029135	0.51700	D	0.077	0.22490	0.471	0.54537	0.219573609325	0.21563	0.3043459622073789	0.30347	1.2812324095	0.82538	0.828350543976	0.86311	D	0.019284	0.15390	T	-0.273087	0.11416	T	-0.519988	0.20296	T	0.748810410499573	0.43219	D	0.849515	0.53247	T	0.17327234	0.38065	0.22145918	0.46956	0.17327234	0.38065	0.22145918	0.46955	-11.925	0.84483	D	.	.	0.992	0.94236	P	.	.	3.208163	0.43659	21.8	0.99781859085240698	0.86867	0.50271	0.28624	D	AEFDBHCIJ	0.303911	0.41176	N	-0.298655468354182	0.29201	1.617228	-0.31264044450555	0.27690	1.538299	0.999989108880473	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.378051	0.06126	2	0.491896	0.07777	0	.	.	4.35	3.16	0.35406	0.709000	0.25407	4.349000	0.43081	-0.112000	0.15009	0.000000	0.06391	1.000000	0.68203	0.566000	0.30555	0.0:0.0:0.3855:0.6144	10.646	0.44810	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	367.83	46	chr7	149765568	.	T	C	367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=256;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=-0.604;SOR=1.255	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1121	5	0	1	0
chr7	149892335	149892335	A	G	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon3:c.T173C:p.V58A,ACTR3C:NM_001351028:exon8:c.T143C:p.V48A	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs200817159	0.0049	0.0049	0.0034	0.0063	0.0519	0.0048	0.0047	0.0507	0.0501	0.0003	0.0012	0.0002	5.08e-05	0.0002	0.0092	0.0020	0.0048	0.0519	0.0031	0.0031	0.0025	0.0038	0.0538	0.0029	0.0028	0.0483	0.0461	0.0008	0	0.0026	0	0	0	0.0035	0.0020	0.0049	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1180.83	97	chr7	149892335	.	A	G	1180.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.79;DP=532;ExcessHet=0;FS=1.528;MLEAC=1;MLEAF=0.083;MQ=53.66;MQRankSum=-0.712;QD=10.45;ReadPosRankSum=-0.21;SOR=0.551	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	5	0	1	0
chr7	150047637	150047637	T	A	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon1:c.A25T:p.R9W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396756648	1.463e-05	1.642e-05	1.266e-05	1.688e-05	1.381e-05	8.16e-06	6.29e-06	7.41e-06	5.42e-06	0	0	0	0	0	0	1.381e-05	6.544e-05	0	6.715e-06	6.59e-06	1.311e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	443.84	35	chr7	150047637	.	T	A	443.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.608;DP=101;ExcessHet=0;FS=3.074;MLEAC=1;MLEAF=0.083;MQ=54.58;MQRankSum=-1.175;QD=12.68;ReadPosRankSum=-0.298;SOR=1.27	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,306	5	0	1	0
chr7	150474077	150474077	G	A	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon4:c.G748A:p.V250I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	0.0005	0.0071885	0.0025	0.0007	0	0.0281	0	0.0003	0.0011	0.0019	0.0022833	353	154602	rs79397821	0.0013	0.0013	0.0013	0.0013	0.0340	0.0012	0.0012	0.0325	0.0319	0.0005	0.0001	0.0045	0.0340	3.744e-05	0.0017	7.644e-05	0.0017	0.0016	0.0016	0.0016	0.0013	0.0018	0.0297	0.0014	0.0013	0.0259	0.0245	0.0008	0	0.0001	0.0052	0.0297	0	0	0.0002	0.0014	0.0033	0.96	0.02097	T	0.41	0.14544	T	0.999	0.77913	D	0.997	0.86255	D	0.099209	0.19944	N	0.361375	0.955885	0.26318	N	-0.295	0.03650	N	-0.02	0.62918	T	0.11	0.05706	N	0.066	0.03841	-0.9933	0.31749	T	0.065	0.26772	T	10	0.0041127503	0.00081	T	.	.	.	0.131	0.35738	.	.	0.698418770453	0.69581	0.13604579838439876	0.13528	0.249172828966	0.27491	0.386429339647	0.23164	T	0.002224	0.01623	T	-0.548055	0.00300	T	-0.538389	0.18455	T	0.0257675198812196	0.01374	T	0.588241	0.21547	T	0.021855906	0.00812	0.022958323	0.00313	0.021855906	0.00811	0.022958323	0.00313	-1.172	0.01212	T	.	.	0.085	0.10400	B	.	.	0.819010	0.11898	8.466	0.76983318587576088	0.11688	0.08497	0.14418	N	AEFDBHCI	0.038830	0.05552	N	-0.443253856458047	0.23970	1.290964	-0.588284560006883	0.19797	1.063841	0.986211023230439	0.31024	0.706548	0.73137	0	0.653731	0.59785	0	0.68496	0.61776	0	0.714379	0.83352	0	.	.	4.47	1.32	0.20897	-0.154000	0.10116	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2434:0.2132:0.5434:0.0	3.563	0.07443	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (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	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	995.83	34	chr7	150474077	.	G	A	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.661;DP=275;ExcessHet=0;FS=2.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.929;SOR=1.009	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	5	0	1	0
chr7	150792109	150792109	C	G	exonic	TMEM176B	.	nonsynonymous SNV	TMEM176B:NM_001101314:exon5:c.G556C:p.V186L,TMEM176B:NM_001101311:exon6:c.G667C:p.V223L,TMEM176B:NM_001101312:exon6:c.G667C:p.V223L,TMEM176B:NM_014020:exon6:c.G667C:p.V223L,TMEM176B:NM_001362691:exon7:c.G715C:p.V239L,TMEM176B:NM_001362692:exon7:c.G715C:p.V239L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00338342571973	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs748680887	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.087	0.40747	T	0.019	0.17989	B	0.014	0.16862	B	0.061520	0.02146	N	2.427640	0.999998	0.08975	N	0.895	0.22405	L	4.48	0.02067	T	-1.18	0.30140	N	0.191	0.21056	-0.9487	0.41194	T	0.005	0.01688	T	10	0.15267116	0.28832	T	0.003383	0.07572	T	0.044	0.11924	0.496	0.58520	0.0920862733494	0.08535	0.20194187835753313	0.20111	0.0421810079997	0.04541	0.380210757256	0.22286	T	0.030183	0.21454	T	-0.322283	0.06712	T	-0.685227	0.06669	T	0.09103004539089	0.11340	T	0.475152	0.14192	T	0.068936415	0.15061	0.08737017	0.20305	0.068936415	0.15061	0.08737017	0.20304	-3.853	0.21599	T	.	.	0.132	0.32372	B	.;.;.;.;.;.	.;.;.;.;.;.	2.557268	0.33111	19.24	0.90065399135923163	0.19350	0.60282	0.31151	D	AEFGBIJ	0.370397	0.45678	N	-0.848076745814986	0.12097	0.5876317	-0.733840087328969	0.16120	0.8512582	0.957204245735505	0.28290	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.56	1.64	0.22949	0.781000	0.26435	1.868000	0.29368	-0.202000	0.08738	1.000000	0.71638	0.950000	0.28999	0.591000	0.31164	0.0:0.7124:0.0:0.2876	5.393	0.15554	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3188.06	33	chr7	150792109	.	C	G	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=424;ExcessHet=0.4139;FS=3.242;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.357;SOR=0.885	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1907,0,2170	4	0	2	0
chr7	151149131	151149131	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon2:c.G550T:p.V184L	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0457042781483	.	.	0.0005	0	0	0	0	0.0003	0.0011	0.0023	0.0003816	59	154602	rs757031253	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	2.988e-05	6.714e-05	0	0	0.0001	0.0003	0.0001	0.0001	0.0018	0.0001	0.0001	0.0002	0.0001	0.0015	9.146e-05	7.702e-05	0.0007	0.0005	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0015	0.33	0.13131	T	0.452	0.12884	T	0.002	0.09854	B	0.002	0.06944	B	0.009292	0.30429	U	0.138248	0.702407	0.30091	N	0.255	0.09829	N	-2.8	0.91076	D	-0.46	0.14978	N	0.042	0.01498	-0.3515	0.73510	T	0.468	0.79497	T	10	0.013121039	0.00279	T	0.045704	0.62109	D	0.186	0.46104	0.262	0.20631	0.856628854582	0.85525	0.07571174283375334	0.07507	0.730581440228	0.62714	0.709222316742	0.68481	T	0.004551	0.03958	T	-0.383473	0.02962	T	-0.330872	0.41371	T	0.0116305838423375	0.00177	T	0.814719	0.46890	T	0.1610981	0.36095	0.15739834	0.36806	0.1610981	0.36095	0.15739834	0.36805	-2.252	0.04300	T	.	.	0.127	0.26917	B	.	.	2.342138	0.30018	18.31	0.91668974463846697	0.20959	0.94115	0.60157	D	AEFDBCI	0.537092	0.55504	D	-0.25105940293182	0.31062	1.73799	-0.0204323576102625	0.38793	2.290655	0.999989098743945	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.12	5.12	0.69459	2.829000	0.47830	4.866000	0.45518	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8416:0.1584:0.0	13.325	0.59891	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	805.83	33	chr7	151149131	.	C	A	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.976;DP=229;ExcessHet=0;FS=1.053;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.849;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	5	0	1	0
chr7	151167166	151167174	GCGGCGGCA	-	exonic	GBX1	.	nonframeshift deletion	GBX1:NM_001098834:exon1:c.375_383del:p.A128_A130del	.	234	1280	7	0	1	8	0.00272692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0013	0	0	0.0007	0	0.0001	0.0003558	55	154602	rs756243397	0.0004	0.0004	0.0004	0.0004	0.0032	0.0004	0.0004	0.0021	0.0017	0.0002	0.0009	0.0005	2.611e-05	9.871e-05	0.0032	0.0004	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0004	0.0012	0	0	0.0034	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1388.79	63	chr7	151167165	.	GGCGGCGGCA	G	1388.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.659;DP=186;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.04;ReadPosRankSum=-0.072;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:60:.:.:0,60,900:.	5	0	1	0
chr7	151167174	151167174	A	0	exonic	GBX1	.	.	.	.	246	1263	3	1	9	14	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	178.05	63	chr7	151167174	.	A	*	178.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.084;DP=171;ExcessHet=0.4139;FS=1.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=-1.452;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:25:.:.:0,25,687:.	5	0	1	0
chr7	152002716	152002716	G	A	exonic	GALNTL5	.	nonsynonymous SNV	GALNTL5:NM_145292:exon6:c.G661A:p.D221N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0480302560697	7.7e-05	.	1.653e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs151275982	6.157e-06	6.156e-06	5.445e-06	6.876e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	0.994	0.66517	D	0.918	0.65394	D	0.004466	0.33710	N	0.135832	0.998	0.44028	D	3.17	0.88688	M	-0.21	0.66294	T	-3.4	0.67014	D	0.372	0.41360	-0.0937	0.80243	T	0.445	0.78185	T	10	0.41683343	0.56598	T	0.04803	0.63188	D	0.415	0.72555	.	.	0.767558170736	0.76543	0.3625019771762731	0.36164	0.0974379367118	0.11007	0.397118419409	0.24667	T	0.024661	0.18589	T	-0.0960551	0.37078	T	-0.312107	0.43432	T	0.944168746471405	0.62005	D	0.863414	0.55914	D	0.43155634	0.62854	0.4212321	0.66061	0.43155634	0.62854	0.4212321	0.66062	-6.208	0.47988	T	.	.	0.093	0.14201	B	.;.;.	.;.;.	4.289576	0.65412	24.8	0.9989808959285158	0.97048	0.88919	0.49085	D	AEFBI	0.400900	0.47561	N	0.713691542775593	0.80529	7.314535	0.643932357158116	0.78160	6.820637	0.016388083691489	0.12825	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.83	4.83	0.61880	2.030000	0.40728	7.198000	0.57790	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.975000	0.56047	0.0987:0.1876:0.7137:0.0	6.478	0.21244	643	0.63827	Glycosyltransferase 2-like;Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	503.83	34	chr7	152002716	.	G	A	503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.323;DP=218;ExcessHet=0;FS=3.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.844;SOR=0.188	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr7	152108209	152108209	A	G	exonic	GALNT11	.	nonsynonymous SNV	GALNT11:NM_001304514:exon5:c.A641G:p.N214S,GALNT11:NM_001371475:exon5:c.A758G:p.N253S,GALNT11:NM_001371464:exon6:c.A884G:p.N295S,GALNT11:NM_001371465:exon6:c.A881G:p.N294S,GALNT11:NM_001371470:exon6:c.A587G:p.N196S,GALNT11:NM_022087:exon6:c.A884G:p.N295S,GALNT11:NM_001371458:exon7:c.A884G:p.N295S,GALNT11:NM_001371459:exon7:c.A884G:p.N295S,GALNT11:NM_001371461:exon7:c.A884G:p.N295S,GALNT11:NM_001371462:exon7:c.A884G:p.N295S,GALNT11:NM_001371463:exon7:c.A884G:p.N295S,GALNT11:NM_001371466:exon7:c.A881G:p.N294S,GALNT11:NM_001371467:exon7:c.A881G:p.N294S,GALNT11:NM_001371468:exon7:c.A587G:p.N196S,GALNT11:NM_001371469:exon7:c.A587G:p.N196S,GALNT11:NM_001371460:exon8:c.A884G:p.N295S	.	439	1079	3	1	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0207787275948	0.0002	0.000599042	0.0003	0	0	0	0	7.494e-05	0.0011	0.0019	0.0002781	43	154602	rs201235145	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0012	0.0012	2.987e-05	2.236e-05	0	0	3.744e-05	0.0016	7.014e-05	0.0002	0.0014	9.851e-05	9.842e-05	7.71e-05	0.0001	0.0012	6.003e-05	4.877e-05	0.0005	0.0004	0	0	6.538e-05	0.0003	0	9.414e-05	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.008	0.67890	D	0.988	0.62325	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.015	0.25427	L	0.36	0.57880	T	-4.11	0.74980	D	0.728	0.75374	-0.6979	0.60539	T	0.230	0.59583	T	10	0.13049099	0.24834	T	0.020779	0.43441	T	0.327	0.64926	.	.	0.762419401012	0.76025	0.6952733926290208	0.69468	0.763629131486	0.64388	0.523650050163	0.42141	T	0.164301	0.50971	T	-0.372393	0.03474	T	-0.326708	0.41834	T	0.260209709405899	0.23324	T	0.960504	0.85148	D	0.7366979	0.80103	0.6759662	0.80972	0.7366979	0.80105	0.6759662	0.80973	-9.558	0.71219	D	.	.	0.121	0.25166	B	.;.	.;.	4.593962	0.72687	25.9	0.99844441815424079	0.92489	0.95121	0.63515	D	AEFDBCI	0.930374	0.91756	D	0.584193282693165	0.72189	5.766487	0.59221851373082	0.74378	6.127338	0.996153041763489	0.34559	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.741806	0.99463	0	.	.	5.28	4.07	0.46726	7.460000	0.79850	9.294000	0.79816	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.8595:0.1405:0.0:0.0	12.357	0.54509	663	0.61610	Glycosyltransferase 2-like;Glycosyltransferase 2-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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1413.83	90	chr7	152108209	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=282;ExcessHet=0;FS=2.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.194;SOR=0.412	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr7	152199398	152199398	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon27:c.A4154G:p.N1385S	.	436	1084	2	0	0	2	0.000921659	.	.	.	138487	not_provided|not_specified|Inborn_genetic_diseases|KMT2C-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.180	0.0089724321895	7.7e-05	.	0.0002	0	0.0003	0	0	0.0002	0.0022	6.089e-05	0.0001423	22	154602	rs61730535	9.221e-05	9.303e-05	7.859e-05	0.0001	0.0017	7.929e-05	7.404e-05	0.0009	0.0007	3.111e-05	0.0001	0.0025	0	0	0.0017	2.533e-05	0.0004	2.458e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.658e-05	7.251e-05	3.762e-05	2.575e-05	0	0	0.0001	0.0026	0	0	0	8.82e-05	0.0014	0	0.176	0.22312	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.037234	0.24427	N	0.277746	0.969911	0.25730	N	0.715	0.18665	N	-1.6	0.82165	D	-1.86	0.43524	N	0.172	0.34228	-0.8445	0.52345	T	0.301	0.67176	T	10	0.011018038	0.00243	T	0.008972	0.23631	T	0.180	0.45073	.	.	0.267718591433	0.26370	0.16226650901219186	0.16146	0.0640093265079	0.07131	0.29297298193	0.09357	T	0.089657	0.38419	T	-0.359362	0.04166	T	-0.484676	0.23951	T	0.0206044358422887	0.00760	T	0.766923	0.39491	T	0.048927326	0.08606	0.062241163	0.12145	0.048927326	0.08606	0.062241163	0.12145	-1.993	0.03154	T	0.2312603803453081	0.31294	0.065	0.01834	B	.;.	.;.	1.322247	0.17263	13.06	0.91975227279398319	0.21306	0.91424	0.53505	D	AEFBI	0.117034	0.22945	N	-0.480465984326863	0.22722	1.215243	-0.307965318920262	0.27841	1.547751	0.952936989496296	0.28045	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.45	2.98	0.33575	0.913000	0.28233	0.464000	0.18647	0.665000	0.62972	1.000000	0.71638	0.773000	0.26716	0.996000	0.76049	0.0:0.0809:0.1462:0.7728	7.129	0.24668	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001009	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	429.83	33	chr7	152199398	.	T	C	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.451;DP=224;ExcessHet=0;FS=2.544;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.4;SOR=0.395	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr7	152205112	152205112	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon25:c.G3955C:p.D1319H	.	448	1056	18	0	0	18	0.0084507	.	.	.	138486	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.501	.	0.0050	0.00239617	0.0085	0.0020	0.0026	0	0.0065	0.0106	0.0069	0.0128	0.0057244	885	154602	rs138119145	0.0067	0.0068	0.0066	0.0069	0.0118	0.0066	0.0066	0.0100	0.0098	0.0009	0.0029	0.0016	2.53e-05	0.0068	0.0118	0.0072	0.0053	0.0106	0.0053	0.0053	0.0053	0.0054	0.0079	0.0050	0.0049	0.0073	0.0071	0.0015	0	0.0058	0.0023	0	0.0069	0.0102	0.0079	0.0038	0.0067	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.879	0.62418	P	0.009870	0.30165	N	0.147317	0.999994	0.58761	D	2.485	0.72352	M	-1.88	0.84557	D	-4.04	0.74427	D	0.453	0.49055	0.439	0.89668	D	0.668	0.88490	D	10	0.009700209	0.00218	T	.	.	.	0.501	0.78413	.	.	0.819569700567	0.81786	0.5195825074040655	0.51881	2.46540379897	0.97448	0.448005527258	0.31672	T	0.387487	0.74839	T	-0.265729	0.12238	T	-0.145083	0.59677	T	0.0124907214302725	0.00206	T	0.910209	0.68156	D	0.3838508	0.59593	0.48335987	0.70089	0.43801832	0.63275	0.49340585	0.70699	-6.57	0.50823	T	0.6025763354653823	0.66969	0.328	0.55082	B	.;.	.;.	4.147716	0.62187	24.4	0.9871961608920109	0.45186	0.99594	0.97801	D	AEFBI	0.666513	0.63495	D	0.794095892349163	0.85734	8.665662	0.79423801030766	0.89390	9.955145	0.999999892431563	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.729000	0.74581	7.558000	0.60417	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.860	0.96779	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.08333	1191.83	85	chr7	152205112	.	C	G	1191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.592;DP=266;ExcessHet=0;FS=7.33;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.479;SOR=1.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	5	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:161,52:213:99:.:.:719,0,5797:.	0	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	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	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.1667	79.06	49	chr7	152235831	.	C	G	79.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.48;DP=331;ExcessHet=0.4139;FS=19.603;MLEAC=2;MLEAF=0.167;MQ=50.95;MQRankSum=-2.334;QD=0.64;ReadPosRankSum=-1.322;SOR=2.81	GT:AD:DP:GQ:PL	0/1:62,7:69:27:27,0,2515	4	0	2	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.058409	0.106061	0.028533	0.055556	0.050000	0.051724	0.060976	0.049242	0.08333	61.83	120	chr7	152248140	.	T	C	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=527;ExcessHet=0;FS=16.08;MLEAC=1;MLEAF=0.083;MQ=49.19;MQRankSum=-3.865;QD=0.59;ReadPosRankSum=1.43;SOR=3.8	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr7	154976079	154976079	C	A	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon6:c.G691T:p.D231Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00811914618362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.029	0.54541	D	0.996	0.68779	D	0.859	0.61184	P	0.029568	0.25434	U	0.266177	0.997577	0.22602	N	1.95	0.52479	M	1.43	0.32958	T	-1.92	0.44657	N	0.275	0.31140	-1.0610	0.11508	T	0.111	0.39982	T	10	0.20223606	0.36336	T	0.008119	0.21521	T	0.129	0.35316	.	.	0.370276754211	0.36643	0.14827114439747635	0.14749	0.637711510295	0.57507	0.351574510336	0.18153	T	0.158234	0.50117	T	-0.0876837	0.38458	T	-0.363728	0.37620	T	0.666096091270447	0.39164	D	0.790321	0.43084	T	0.09780862	0.23060	0.08324678	0.19062	0.09780862	0.23059	0.08324678	0.19061	-8.117	0.61865	D	.	.	0.118	0.23986	B	.;.	.;.	3.322947	0.45711	22.2	0.99294473717452003	0.58397	0.89750	0.50418	D	AEFBI	0.222739	0.34719	N	0.00576460191605477	0.42116	2.531647	-0.056420237565384	0.37214	2.175874	0.999692226828802	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.64	3.75	0.42236	3.636000	0.54058	2.376000	0.32458	0.549000	0.26987	0.996000	0.39380	0.079000	0.22353	0.994000	0.71098	0.0:0.828:0.0:0.172	8.831	0.34241	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	281.83	34	chr7	154976079	.	C	A	281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.142;DP=272;ExcessHet=0;FS=73.496;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.03;ReadPosRankSum=0.047;SOR=5.889	GT:AD:DP:GQ:PL	0/1:52,18:70:99:292,0,1446	5	0	1	0
chr7	155739840	155739851	CCCACCCCAGCA	-	exonic	RBM33	.	nonframeshift deletion	RBM33:NM_053043:exon12:c.1863_1874del:p.P630_H633del	.	657	861	3	1	0	5	0.00289519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	.	0.0017	0	0.0054	0	0	0.0040	0	0.0005	3.84e-05	1	26028	rs756497414	0.0019	0.0018	0.0020	0.0019	0.0024	0.0019	0.0018	0.0021	0.0020	0.0002	0.0005	0.0060	5.692e-05	0.0002	0.0024	0.0021	0.0027	0.0005	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0021	0.0020	0.0007	0	0.0017	0.0074	0.0002	0.0003	0	0.0025	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1736.79	95	chr7	155739839	.	CCCCACCCCAGCA	C	1736.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.12;DP=304;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.28;ReadPosRankSum=2.23;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	5	0	1	0
chr8	246121	246121	G	T	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon6:c.G1274T:p.G425V,ZNF596:NM_001042416:exon6:c.G1274T:p.G425V,ZNF596:NM_001287254:exon6:c.G1274T:p.G425V,ZNF596:NM_001287255:exon6:c.G1274T:p.G425V,ZNF596:NM_001287256:exon6:c.G1274T:p.G425V,ZNF596:NM_001287399:exon6:c.G875T:p.G292V,ZNF596:NM_173539:exon6:c.G1274T:p.G425V	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0048	0.00359425	0.0049	0.0014	0.0059	0	0.0008	0.0074	0.0044	0.0005	0.0052263	808	154602	rs117305688	0.0080	0.0080	0.0084	0.0077	0.0097	0.0079	0.0079	0.0096	0.0095	0.0013	0.0073	0.0028	2.52e-05	0.0008	0.0014	0.0097	0.0066	0.0005	0.0052	0.0052	0.0055	0.0049	0.0101	0.0049	0.0048	0.0088	0.0083	0.0012	0.0285	0.0101	0.0032	0	0.0008	0	0.0077	0.0076	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.925	0.65999	D	.	.	.	.	0.997658	0.44071	D	3.75	0.95014	H	5.44	0.00979	T	-8.09	0.96664	D	0.384	0.42541	-1.1263	0.01967	T	0.016	0.06377	T	9	0.01144582	0.00250	T	.	.	.	0.205	0.49236	.	.	0.575080649919	0.57175	0.07640030832795322	0.07576	0.00501952263468	0.00445	0.521692693233	0.41864	T	0.196272	0.55260	T	-0.40848	0.02035	T	-0.349142	0.39302	T	0.0703050603760631	0.08693	T	0.666133	0.27528	T	0.72208697	0.79277	0.63395107	0.78636	0.72208697	0.79279	0.63395107	0.78637	-8.36	0.63498	D	.	.	0.948	0.86668	P	.;.;.	.;.;.	2.986135	0.39851	21.0	0.9940163902146214	0.62841	0.00398	0.01994	N	AEFDGBHCI	0.272627	0.38821	N	0.457759296229387	0.64645	4.723751	0.197590625957046	0.49716	3.171433	0.256564127472771	0.18741	0.615465	0.37627	0	0.486142	0.07564	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	2.72	2.72	0.31179	1.845000	0.38920	3.425000	0.38278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.662	0.50611	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1002.83	33	chr8	246121	.	G	T	1002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.293;DP=318;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.494;SOR=0.738	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	5	0	1	0
chr8	432894	432894	C	T	exonic	FBXO25	.	nonsynonymous SNV	FBXO25:NM_183420:exon4:c.C247T:p.R83C,FBXO25:NM_183421:exon4:c.C247T:p.R83C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0234706261596	0.0004	0.000599042	0.0004	0.0003	0	0	0	0.0006	0	0.0007	0.0003428	53	154602	rs142717048	0.0007	0.0007	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	3.162e-05	0	0	0	0	0.0008	0.0009	0.0005	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0001	0	0	9.466e-05	0	0.0007	0	0.0012	0.021	0.63226	D	0.009	0.66756	D	0.992	0.64738	D	0.785	0.57495	P	0.000487	0.43931	D	0.227432	0.999989	0.81001	D	1.67	0.42885	L	1.96	0.22270	T	-0.02	0.07299	N	0.739	0.76019	-1.1131	0.02817	T	0.082	0.32411	T	10	0.04588279	0.03712	T	0.023471	0.46432	T	0.175	0.44197	.	.	0.33340067248	0.32956	0.35989669025029764	0.35903	.	.	0.530263900757	0.43072	T	0.036501	0.24126	T	-0.312348	0.07543	T	-0.337012	0.40683	T	0.133730471134186	0.15722	T	0.955304	0.83579	D	0.16131417	0.36132	0.10518181	0.25280	0.16131417	0.36131	0.10518181	0.25279	-3.889	0.22438	T	.	.	0.144	0.31683	B	.;.;.	.;.;.	5.651172	0.92809	33	0.99886391900440363	0.96126	0.77564	0.38151	D	AEFI	0.581966	0.58178	D	0.421495752254928	0.62605	4.479205	0.412699401481712	0.62356	4.449553	0.00168053167892084	0.08770	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.669	0.65921	0	.	.	4.36	4.36	0.51643	3.291000	0.51470	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.775	0.69335	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000616	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004310	0.08333	147.83	15	chr8	432894	.	C	T	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.75;MQRankSum=-0.624;QD=7.39;ReadPosRankSum=0.991;SOR=0.787	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,504	5	0	1	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S	.	943	554	20	5	0	30	0.026362	.	.	.	3210342	DLGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	691.83	48	chr8	737814	.	G	T	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.319;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.82;SOR=0.773	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,880	5	0	1	0
chr8	1668406	1668406	A	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon9:c.A1888T:p.T630S	.	418	1098	6	0	0	6	0.0027248	.	.	.	2337886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	0.0219923309443	8.1e-05	.	0.0006	0	0.0002	0	0	0.0010	0	0.0003	0.0002975	46	154602	rs377576966	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	3.018e-05	0.0001	0.0017	5.133e-05	0	0.0012	0.0003	0.0004	0.0002	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.424e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0010	0.0004	.	.	.	0.021	0.58089	D	0.749	0.43231	P	0.257	0.39298	B	0.000000	0.84330	D	0.043664	0.999457	0.47118	D	3.31	0.90591	M	.	.	.	.	.	.	0.742	0.74189	-0.1388	0.79195	T	0.426	0.76930	T	10	0.060617	0.07474	T	0.021992	0.44830	T	0.256	0.56694	.	.	0.355511061997	0.35164	0.35805920735082397	0.35719	0.214803422188	0.24017	0.823596179485	0.85580	D	0.341799	0.82878	T	-0.262411	0.12619	T	-0.294702	0.45282	T	0.177487890575197	0.19075	T	0.949405	0.80515	D	0.32659137	0.55190	0.3373146	0.59523	0.32659137	0.55190	0.3373146	0.59522	-9.617	0.71585	D	.	.	0.479	0.68048	A	.;.;.	.;.;.	4.239153	0.64256	24.7	0.99607651619720983	0.74634	0.98404	0.82430	D	AEFDBI	0.816839	0.73847	D	0.508025941219022	0.67563	5.098398	0.55107998785456	0.71471	5.660089	0.999999645250006	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.793000	0.74917	7.493000	0.59393	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.655	0.76884	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	918.83	33	chr8	1668406	.	A	T	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.108;DP=283;ExcessHet=0;FS=6.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-2.17;SOR=1.347	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr8	1909390	1909390	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon17:c.G1949A:p.S650N,ARHGEF10:NM_014629:exon18:c.G2063A:p.S688N,ARHGEF10:NM_001308153:exon19:c.G2135A:p.S712N	.	0	1503	19	0	0	19	0.00628099	.	.	.	361190	not_provided|Autosomal_dominant_slowed_nerve_conduction_velocity|not_specified	MedGen:C3661900|MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00454202123999	0.0006	0.000399361	0.0008	9.614e-05	0.0015	0	0.0002	0.0011	0.0033	0.0007	0.0007827	121	154602	rs143290224	0.0006	0.0006	0.0006	0.0007	0.0135	0.0006	0.0006	0.0111	0.0102	0.0010	0.0019	0	0	3.75e-05	0.0135	0.0005	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0043	0	0	0	0	0.0006	0.0024	0.0002	0.372	0.17014	T	0.374	0.16914	T	0.002	0.09854	B	0.013	0.16460	B	0.887705	0.07275	N	1.057830	1	0.08975	N	0.15	0.08895	N	2.23	0.18083	T	-0.8	0.22078	N	0.081	0.09914	-0.9764	0.35816	T	0.037	0.15770	T	10	0.0051074624	0.00111	T	0.004542	0.11189	T	0.077	0.22490	.	.	0.134241683229	0.13084	0.21262784305416427	0.21178	0.0324232225892	0.03388	0.353598922491	0.18450	T	0.028301	0.20534	T	-0.687676	0.00043	T	-0.767839	0.02839	T	0.0121567051769111	0.00194	T	.	.	.	0.029185459	0.02373	0.044929598	0.05932	0.03713525	0.04704	0.042660918	0.05131	-6.413	0.51068	T	.	.	0.076	0.05756	B	.;.;.;.;.	.;.;.;.;.	-0.158695	0.03307	0.574	0.78395020267440041	0.12282	0.14466	0.18418	N	AEFDBI	0.059294	0.11189	N	-1.33759350455826	0.03255	0.1450981	-1.4347312478848	0.02911	0.13482	0.980101808749081	0.30099	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	-5.54	0.02343	1.899000	0.39450	0.335000	0.17323	-0.633000	0.04490	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.1465:0.131:0.7225:0.0	12.370	0.54581	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.020202	0.024457	0.014620	0.000000	0.025862	0.009146	0.003788	0.1667	5635.06	78	chr8	1909390	.	G	A	5635.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.517;DP=689;ExcessHet=0.4139;FS=0.519;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.2;SOR=0.737	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2595,0,2545	4	0	2	0
chr8	1928541	1928541	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon23:c.G2698A:p.V900I,ARHGEF10:NM_014629:exon24:c.G2812A:p.V938I,ARHGEF10:NM_001308153:exon25:c.G2884A:p.V962I	.	0	1510	12	0	0	12	0.00395778	.	.	.	512833	Autosomal_dominant_slowed_nerve_conduction_velocity|not_provided|not_specified	MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0080	0.00299521	0.0055	0.0014	0.0050	0	0.0024	0.0082	0.0044	0.0018	0.006009	929	154602	rs61752020	0.0095	0.0095	0.0097	0.0092	0.0116	0.0093	0.0093	0.0114	0.0113	0.0016	0.0042	7.652e-05	0	0.0021	0.0029	0.0116	0.0071	0.0021	0.0060	0.0060	0.0063	0.0057	0.0107	0.0057	0.0055	0.0101	0.0098	0.0021	0	0.0037	0	0.0002	0.0019	0.0034	0.0107	0.0057	0.0015	1.0	0.00964	T	1.0	0.02434	T	0.021	0.18474	B	0.048	0.24975	B	0.029414	0.25458	N	0.444896	1	0.08975	N	-0.495	0.02627	N	-0.15	0.65192	T	-0.03	0.08033	N	0.124	0.17691	-0.9950	0.31299	T	0.048	0.20315	T	10	0.0046761036	0.00098	T	.	.	.	0.137	0.36984	.	.	0.136095386433	0.13204	0.15839481021490168	0.15760	0.0316564953664	0.03281	0.283190727234	0.07941	T	0.038889	0.24998	T	-0.584988	0.00180	T	-0.600747	0.12748	T	0.0011307726358451	0.00011	T	.	.	.	0.013005088	0.00047	0.026686532	0.00771	0.01587026	0.00162	0.025918612	0.00656	-4.673	0.33513	T	.	.	0.063	0.02609	B	.;.;.;.;.	.;.;.;.;.	-0.406263	0.02190	0.216	0.50895661031252371	0.04465	0.34334	0.25043	N	AEFDBI	0.032274	0.03612	N	-1.74925982601287	0.00682	0.02941038	-1.72307545726633	0.01039	0.04662018	0.999975723687318	0.50053	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	-8.29	0.00884	1.051000	0.30027	-1.804000	0.04695	-0.560000	0.04857	0.999000	0.42656	0.000000	0.08366	0.025000	0.12405	0.4282:0.0:0.5718:0.0	16.213	0.82004	964	0.07719	.;.;.;.;.	CLN8	Esophagus_Mucosa	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.007576	0.08333	1179.83	35	chr8	1928541	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.956;SOR=0.735	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr8	2001555	2001563	GGAGCCCGG	-	exonic	KBTBD11	.	nonframeshift deletion	KBTBD11:NM_014867:exon2:c.363_371del:p.G124_P126del	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0.0179	0	.	0.0110	0	0.0016	0.0002305	6	26028	rs757999930	0.0027	0.0025	0.0027	0.0027	0.0098	0.0026	0.0026	0.0073	0.0064	0.0023	0.0020	0.0103	7.232e-05	0.0009	0.0098	0.0028	0.0030	0.0013	0.0031	0.0031	0.0034	0.0027	0.0040	0.0029	0.0028	0.0036	0.0034	0.0022	0.0044	0.0031	0.0104	0	0.0002	0.0070	0.0040	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	142.8	17	chr8	2001554	.	AGGAGCCCGG	A	142.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.111;DP=68;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.8;ReadPosRankSum=0;SOR=3.258	GT:AD:DP:GQ:PL	0/0:12,0:12:33:0,33,495	5	0	1	0
chr8	2003013	2003013	C	G	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.C1821G:p.F607L	.	440	1075	4	1	2	8	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.638155765716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.855e-07	2.052e-06	0	1.851e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.192e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.033	0.53072	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.609536	0.30872	N	1.645	0.42016	L	-1.54	0.81640	D	-4.53	0.78388	D	0.567	0.59053	-0.0060	0.82132	T	0.555	0.83757	D	10	0.819705	0.81183	D	0.638156	0.96909	D	0.459	0.75687	0.235	0.16457	0.892755373579	0.89169	0.7410751096181228	0.74053	1.77695890874	0.91349	0.827225208282	0.86138	D	0.119411	0.44091	T	0.113174	0.65678	D	-0.0752105	0.65251	T	0.969058334827423	0.68456	D	.	.	.	0.4101862	0.61431	0.3657635	0.61919	0.4101862	0.61432	0.3657635	0.61919	-5.798	0.44557	T	.	.	0.959	0.87935	P	.	.	1.748856	0.22250	15.54	0.99460639628473835	0.65788	0.76867	0.37735	D	AEFDBCI	0.397468	0.47353	N	-0.200001956555768	0.33134	1.876439	-0.426963067754129	0.24210	1.324453	0.999994975040397	0.74766	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.76	-1.63	0.07900	-0.025000	0.12361	-1.721000	0.04849	0.578000	0.29377	0.934000	0.32416	0.000000	0.08366	0.007000	0.07825	0.0:0.308:0.0:0.692	12.747	0.56660	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	105.83	34	chr8	2003013	.	C	G	105.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.047;DP=115;ExcessHet=0;FS=1.721;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.667;SOR=0.803	GT:AD:DP:GQ:PL	0/0:15,0:15:42:0,42,630	5	0	1	0
chr8	2106323	2106323	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon22:c.C2816T:p.S939F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	0.0479158109894	.	.	3.301e-05	0	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs761427827	7.525e-06	7.524e-06	6.806e-06	8.251e-06	0.0002	4.04e-06	2.95e-06	0.0001	0.0001	0	0.0002	0	0	0	0	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.02	0.40749	T	-5.54	0.86149	D	0.896	0.89577	-0.3652	0.73108	T	0.311	0.68094	T	10	0.86037505	0.85254	D	0.047916	0.63138	D	0.613	0.84879	0.616	0.75000	0.613388676277	0.61026	0.6411916621454066	0.64054	0.0453492157167	0.04917	0.537991821766	0.44161	T	.	.	.	0.0683166	0.60643	T	0.162077	0.80934	D	0.982339918613434	0.74430	D	0.919408	0.70943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.78571	P	.;.	.;.	3.775304	0.54247	23.5	0.99788829445663652	0.87484	0.99042	0.90377	D	AEFBI	0.924286	0.90208	D	0.613426520762417	0.74021	6.062746	0.484440853088905	0.66957	5.020366	0.99999999996001	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	7.631000	0.82408	5.832000	0.50172	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.0:1.0:0.0:0.0	18.998	0.92799	946	0.12043	.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1013.83	92	chr8	2106323	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.152;DP=303;ExcessHet=0;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.485;SOR=0.917	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	5	0	1	0
chr8	2144794	2144794	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon37:c.C4211T:p.T1404I	.	429	1075	18	0	0	18	0.00830258	.	.	.	3203094	not_provided|MYOM2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0008	0.00299521	0.0022	0	0.0012	0	0	0.0017	0.0011	0.0083	0.0019793	306	154602	rs147501499	0.0012	0.0012	0.0009	0.0014	0.0078	0.0011	0.0011	0.0068	0.0066	2.987e-05	0.0009	0.0127	2.519e-05	3.744e-05	0.0078	0.0005	0.0019	0.0073	0.0010	0.0010	0.0010	0.0011	0.0089	0.0009	0.0009	0.0068	0.0061	4.811e-05	0	0.0010	0.0144	0	0	0.0034	0.0006	0.0014	0.0089	0.001	0.78490	D	0.008	0.67890	D	.	.	.	.	.	.	0.000431	0.44522	D	0.222362	0.770511	0.34145	D	.	.	.	-0.37	0.68892	T	-4.76	0.80682	D	0.178	0.20262	-0.3595	0.73278	T	0.255	0.62507	T	10	0.012775004	0.00273	T	.	.	.	0.334	0.65620	.	.	0.637017290465	0.63403	0.5428526361877503	0.54210	0.0234488037338	0.02381	0.51453691721	0.40857	T	.	.	.	-0.217342	0.18358	T	-0.0799868	0.64904	T	0.117605831609702	0.14193	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.51832	B	.;.	.;.	3.091681	0.41634	21.4	0.99874652642255091	0.95160	0.87234	0.46712	D	AEFDBI	0.262618	0.38032	N	0.353223132316343	0.58908	4.066269	0.375473070259359	0.60055	4.189151	0.999999304954846	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.35	4.47	0.53770	2.997000	0.49145	2.731000	0.34388	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7949:0.1336:0.0715	10.684	0.45026	970	0.06235	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.011364	0.08333	1727.83	34	chr8	2144794	.	C	T	1727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.453;DP=364;ExcessHet=0;FS=0.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.915;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1297	5	0	1	0
chr8	2974553	2974553	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8638A:p.V2880I	.	424	1081	16	1	0	18	0.00825688	.	.	.	723047	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0004	0.00299521	0.0021	0.0002	0.0010	0	0	0.0007	0.0036	0.0118	0.0017658	273	154602	rs199997360	0.0012	0.0012	0.0009	0.0015	0.0104	0.0011	0.0011	0.0098	0.0096	0.0001	0.0007	3.829e-05	5.045e-05	0	0.0042	0.0006	0.0012	0.0104	0.0008	0.0008	0.0006	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0001	0	0.0004	0	0	0	0.0068	0.0008	0.0014	0.0108	0.271	0.24468	T	0.058	0.46182	T	0.0	0.02946	B	0.002	0.06944	B	0.616804	0.05733	N	1.232560	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.84	0.23590	N	0.125	0.13055	-0.9811	0.34748	T	0.162	0.49748	T	10	0.024886549	0.00701	T	.	.	.	0.109	0.30843	.	.	0.0884992946249	0.08302	0.1613124792866428	0.16052	.	.	0.200619101524	0.00475	T	0.022544	0.17365	T	-0.547403	0.00302	T	-0.551121	0.17219	T	0.00539363786171525	0.00058	T	0.609039	0.23205	T	0.034196056	0.03792	0.036459863	0.03098	0.033009052	0.03435	0.04383823	0.05543	-3.967	0.23308	T	.	.	0.068	0.02927	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.727708	0.01257	0.065	0.88680894306336966	0.18169	0.05817	0.11756	N	AEFDHCI	0.070578	0.14017	N	-1.5934040966404	0.01298	0.05650825	-1.69436569463707	0.01162	0.05229985	0.394897223316251	0.20079	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.66	-8.52	0.00801	-0.587000	0.05874	-5.250000	0.01790	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.0891:0.4553	11.110	0.47447	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.000000	0.000000	0.050000	0.000000	0.012195	0.011364	0.08333	543.83	64	chr8	2974553	.	C	T	543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.85;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.493;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	5	0	1	0
chr8	3106536	3106536	G	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon46:c.C6941G:p.T2314R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.022129989045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.089	0.48855	T	0.549	0.38101	P	0.322	0.41795	B	0.010892	0.29744	N	0.300687	1	0.08975	N	.	.	.	-0.14	0.65006	T	-3.22	0.66436	D	0.524	0.58543	-0.9387	0.42822	T	0.166	0.50405	T	10	0.40573835	0.55879	T	0.02213	0.44986	T	0.218	0.51265	0.547	0.66156	0.407632638399	0.40377	0.4008383888407469	0.39998	.	.	0.342022061348	0.16740	T	0.045794	0.27287	T	-0.0817816	0.39425	T	-0.35525	0.38603	T	0.586394906044006	0.35865	D	0.89611	0.63771	D	0.1111617	0.26270	0.1867523	0.41866	0.1111617	0.26270	0.1867523	0.41865	-5.456	0.41455	T	.	.	0.085	0.10208	B	.;.;.;.;.;.	.;.;.;.;.;.	3.231397	0.44070	21.9	0.82965572456449177	0.14469	0.19263	0.20592	N	AEFI	0.259012	0.37744	N	-0.445717779790239	0.23886	1.285847	-0.46036687722603	0.23255	1.267256	0.0834183564291608	0.15927	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.31	5.31	0.75063	1.449000	0.34734	1.514000	0.27045	-0.108000	0.15293	0.003000	0.16062	0.002000	0.18203	0.011000	0.09372	0.1256:0.0:0.721:0.1535	7.088	0.24444	940	0.13648	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;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	.	.	.	.	.	.	.	.	0.08333	822.83	40	chr8	3106536	.	G	C	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.369;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.494;SOR=0.578	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,115,1452	5	0	1	0
chr8	3107796	3107796	A	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon45:c.T6757C:p.F2253L	.	.	.	.	.	.	.	.	.	.	.	751102	CSMD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.291	0.0321387943421	0.0008	0.00119808	0.0003	0.0037	0.0002	0	0	0	0	0	0.0002846	44	154602	rs182371880	8.119e-05	8.757e-05	8.3e-05	7.937e-05	0.0030	6.88e-05	6.4e-05	0.0025	0.0023	0.0030	0.0004	0	0	0	0.0002	0	0.0002	0	0.0008	0.0008	0.0008	0.0009	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0004	0	0	0	0	0	0.0005	0	0.016	0.61437	D	0.004	0.74150	D	0.969	0.56768	D	0.914	0.64984	D	0.000033	0.55875	D	0.074160	0.99993	0.51612	D	.	.	.	0.27	0.59176	T	-3.52	0.69950	D	0.359	0.46649	-0.9106	0.46781	T	0.162	0.49715	T	10	0.011229485	0.00246	T	0.032139	0.54044	D	0.291	0.61040	0.485	0.56780	0.498830998431	0.49518	0.4446479742133524	0.44382	.	.	0.685541927814	0.65065	T	0.097682	0.40382	T	-0.345302	0.05030	T	-0.270885	0.47730	T	0.0896929089962171	0.11181	T	0.919908	0.72788	D	0.45935628	0.64631	0.38398314	0.63349	0.45935628	0.64631	0.38398314	0.63349	-13.885	0.92677	D	.	.	0.956	0.87601	P	.;.;.;.;.;.	.;.;.;.;.;.	4.538755	0.71321	25.7	0.99466377463415001	0.66102	0.97359	0.74250	D	AEFBCIJ	0.918636	0.88799	D	0.463789021320719	0.64990	4.766451	0.455373025718303	0.65062	4.776538	0.999999999574311	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.11	5.11	0.69188	8.268000	0.89807	11.015000	0.84894	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	1.0:0.0:0.0:0.0	14.890	0.70240	940	0.13648	CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain;CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2890.83	40	chr8	3107796	.	A	G	2890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.453;DP=403;ExcessHet=0;FS=3.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.03;SOR=0.479	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	5	0	1	0
chr8	3187965	3187965	T	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon36:c.A5524T:p.I1842F	.	.	.	.	.	.	.	.	0.0291	0.296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.995	0.67487	D	0.99	0.78936	D	0.000027	0.55875	D	0.068565	1	0.81001	D	.	.	.	2.12	0.19726	T	-3.38	0.66780	D	0.876	0.91852	-1.1070	0.03340	T	0.099	0.36932	T	10	0.7300048	0.74233	D	0.007621	0.20219	T	0.180	0.45073	0.744	0.87570	0.246773566709	0.24272	0.6738327182317176	0.67321	.	.	0.656003236771	0.60839	T	0.01905	0.17490	T	-0.0535442	0.43909	T	-0.314689	0.43153	T	0.96508401632309	0.67157	D	0.944805	0.79065	D	0.29645294	0.52585	0.2998911	0.56023	0.29645294	0.52585	0.2998911	0.56022	-7.687	0.58917	D	.	.	0.757	0.75360	P	.;.;.;.;.;.	.;.;.;.;.;.	3.678281	0.52339	23.2	0.98856296556499956	0.47390	0.97659	0.76220	D	AEFBI	0.789548	0.71870	D	0.293107741124996	0.55800	3.743967	0.250550898314702	0.52680	3.441292	0.400415534629407	0.20125	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.13	3.83	0.43287	4.897000	0.62918	3.333000	0.37643	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:0.0818:0.0:0.9182	10.759	0.45453	934	0.15400	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	.	.	.	.	.	.	.	.	0.08333	1238.83	35	chr8	3187965	.	T	A	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=282;ExcessHet=0;FS=4.045;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.312;SOR=1.188	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1369	5	0	1	0
chr8	3359292	3359292	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon21:c.G3164A:p.R1055Q	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0383411729481	.	.	3.315e-05	0	0	0.0001	0	4.506e-05	0	0	2.59e-05	4	154602	rs754510346	6.978e-05	6.977e-05	6.943e-05	7.014e-05	8.454e-05	5.847e-05	5.458e-05	7.048e-05	6.541e-05	2.987e-05	0	0	2.519e-05	3.745e-05	0	8.454e-05	1.657e-05	3.478e-05	1.316e-05	1.97e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.322	0.14256	T	0.364	0.16815	T	1.0	0.90584	D	0.993	0.81110	D	0.000001	0.62929	D	0.000000	0.957732	0.43861	D	.	.	.	-0.03	0.63077	T	-0.85	0.23156	N	0.62	0.66959	-0.7082	0.60041	T	0.273	0.64474	T	10	0.380939	0.54188	T	0.038341	0.58162	D	0.247	0.55478	0.791	0.91291	0.546044812627	0.54260	0.5372747888466629	0.53652	.	.	0.605168402195	0.53634	T	0.014553	0.12369	T	-0.266311	0.12170	T	-0.394612	0.34011	T	0.299316174706977	0.24975	T	0.909009	0.67793	D	0.19890067	0.41809	0.14395323	0.34193	0.19890067	0.41809	0.14395323	0.34192	-7.892	0.60332	D	.	.	0.094	0.14431	B	.;.;.;.;.;.	.;.;.;.;.;.	4.346271	0.66720	25.0	0.99919419725383885	0.98654	0.86311	0.45566	D	AEFBI	0.308361	0.41497	N	0.131322444879939	0.47929	3.01179	0.126110888433103	0.45890	2.844172	6.0510090525913E-4	0.07437	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.24	4.36	0.51643	2.416000	0.44298	1.723000	0.28273	0.597000	0.34315	0.973000	0.34540	0.915000	0.28207	0.835000	0.39381	0.0:0.9264:0.0:0.0736	14.013	0.64023	964	0.07719	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1664.83	33	chr8	3359292	.	C	T	1664.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.177;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=2.11;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1440	5	0	1	0
chr8	4032073	4032073	G	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon4:c.C442T:p.P148S	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.45715590753	.	0.000599042	0.0004	0	0	0	0	0	0	0.0029	0.0003299	51	154602	rs548910975	0.0002	0.0002	8.718e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0005	2.7e-06	0.0002	0.0026	4.597e-05	4.593e-05	3.856e-05	5.372e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000209	0.47681	U	0.000000	0.999985	0.54805	D	4.285	0.98199	H	-1.86	0.84341	D	-3.56	0.68880	D	0.881	0.88798	1.012	0.97391	D	0.869	0.95644	D	10	0.107593685	0.19992	T	0.457156	0.94447	D	0.759	0.91795	0.727	0.86111	0.876043322735	0.87483	0.36456096716508907	0.36370	.	.	0.771998405457	0.77724	T	0.044042	0.50720	T	-0.0534068	0.43929	T	0.146205	0.79945	D	0.368579609851239	0.27743	T	0.987401	0.95706	D	0.21455787	0.43865	0.23599079	0.48858	0.21455787	0.43865	0.23599079	0.48857	-11.095	0.80176	D	.	.	0.710	0.73359	P	.;.;.;.;.;.	.;.;.;.;.;.	4.849171	0.79243	27.1	0.99903761272077596	0.97502	0.98977	0.89442	D	AEFBI	0.933427	0.92532	D	1.04233275352767	0.96906	15.30791	0.911954005259741	0.96073	14.27186	0.999999254446152	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.663000	0.97879	11.330000	0.92539	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	18.415	0.90510	982	0.03397	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2189.06	33	chr8	4032073	.	G	A	2189.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.897;DP=318;ExcessHet=0.4139;FS=1.403;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.42;SOR=0.879	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1248,0,697	4	0	2	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1500.83	38	chr8	6445112	.	G	A	1500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=304;ExcessHet=0;FS=2.38;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.639;SOR=0.501	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr8	6811689	6811689	C	T	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G1570A:p.G524R,XKR5:NM_001289973:exon8:c.G1081A:p.G361R	.	384	1128	10	0	0	10	0.00441306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00139776	0.0027	0.0016	0	0	0	0.0042	0.0044	0.0023	0.0010349	160	154602	rs148339184	0.0050	0.0047	0.0051	0.0048	0.0058	0.0049	0.0048	0.0057	0.0057	0.0009	0.0013	7.942e-05	0	0.0003	0.0005	0.0058	0.0051	0.0026	0.0030	0.0030	0.0034	0.0026	0.0054	0.0028	0.0027	0.0050	0.0048	0.0013	0.0077	0.0010	0.0006	0	9.418e-05	0.0034	0.0054	0.0009	0.0023	.	.	.	0.501	0.11153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.12	0.28775	L	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.0036621392	0.00067	T	.	.	.	.	.	.	.	0.235664433957	0.23186	0.21286599932417272	0.21202	.	.	0.245238721371	0.03283	T	0.012575	0.11029	T	-0.476586	0.00775	T	-0.454052	0.27251	T	.	.	.	0.513449	0.16474	T	0.041439876	0.06103	0.20168461	0.44161	0.041439876	0.06102	0.20168461	0.44160	-4.196	0.26694	T	.	.	0.118	0.24226	B	.	.	0.451041	0.08212	4.949	0.75499532741431707	0.11099	0.05609	0.11515	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999844504986364	0.43971	0.162113	0.03585	0	0.166317	0.03975	0	0.175069	0.04249	0	0.075334	0.01956	0	0.121902	0.24847	5.5	2.65	0.30588	0.204000	0.17133	-0.100000	0.11953	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1665:0.6574:0.0:0.1761	5.031	0.13752	994	0.00715	.	.	.	.	.	.	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	1429.83	35	chr8	6811689	.	C	T	1429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.331;DP=274;ExcessHet=0;FS=2.667;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.19;SOR=0.994	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1229	5	0	1	0
chr8	7333590	7333590	C	T	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.C1204T:p.R402X,USP17L1:NM_001256873:exon1:c.C1204T:p.R402X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0	0.0003	0.0001153	3	26028	rs575331454	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	6.802e-05	3.974e-05	7.733e-05	3.793e-05	0.0002	0.0001	7.203e-05	0.0003	0.0001	0.0001	0.0001	9.4e-05	0.0002	6.957e-05	5.632e-05	8.17e-05	6.284e-05	7.757e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.725768	0.00025	T	-0.95435	0.00249	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.808954	0.78206	26.9	0.57070883978628917	0.05689	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.38594698175052E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	-0.943	0.09866	-0.516000	0.06367	-1.168000	0.06133	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3116.04	46	chr8	7333590	.	C	T	3116.04	.	AC=2;AF=0.167;AN=12;DP=297;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=36.48;QD=30.25;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1356	5	1	0	0
chr8	7358418	7358418	C	T	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G461A:p.R154H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000431589808943	0.0002	.	4.144e-05	0	0	0.0001	0	4.498e-05	0	6.071e-05	3.23e-05	5	154602	rs201106758	5.762e-05	6.708e-05	5.188e-05	6.342e-05	0.0002	4.756e-05	4.378e-05	5.413e-05	4.055e-05	9.354e-05	2.237e-05	0	0.0001	0	0.0002	5.488e-05	6.652e-05	0.0001	6.676e-05	8.614e-05	9.149e-05	4.094e-05	0.0001	3.569e-05	2.755e-05	3.478e-05	2.001e-05	0.0001	0	6.555e-05	0	0	0	0	7.354e-05	0	0	0.056	0.38185	T	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.855	0.21307	L	3.1	0.08283	T	-0.18	0.09796	N	0.107	0.09207	-1.0224	0.22932	T	0.028	0.12103	T	7	0.07263368	0.10869	T	4.32E-4	0.00092	T	0.030	0.07022	.	.	0.0297737177859	0.01360	0.010430456923198913	0.01004	6.86557160948E-4	0.00063	0.369434833527	0.20750	T	0.011287	0.10090	T	-0.605448	0.00135	T	-0.815312	0.01550	T	0.0243425401637793	0.01188	T	0.151985	0.01292	T	0.041552395	0.06139	0.042928398	0.05224	0.041552395	0.06138	0.042928398	0.05224	-4.642	0.32695	T	.	.	0.106	0.19639	B	.	.	1.669900	0.21287	15.13	0.93816411370882002	0.23794	0.01142	0.04139	N	AEFBI	0.060797	0.11579	N	-0.66950268166808	0.16895	0.8647635	-0.891246952774332	0.12301	0.6319442	1.29785486134138E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.14	1.14	0.19817	-1.112000	0.03410	-5.588000	0.01665	0.226000	0.18113	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.6257:0.3743:0.0	5.214	0.14655	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	0.000594	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	6368.06	34	chr8	7358418	.	C	T	6368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=632;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.93;MQRankSum=0.086;QD=14.09;ReadPosRankSum=-0.183;SOR=0.707	GT:AD:DP:GQ:PL	0/1:105,115:220:99:3011,0,2483	4	0	2	0
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	37.62	.	chr8	7976907	.	G	A	37.62	.	AC=2;AF=0.333;AN=6;DP=74;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=45;QD=18.81;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1128	2	1	0	3
chr8	8328402	8328402	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon5:c.G2380A:p.V794I,PRAG1:NM_001369759:exon5:c.G2380A:p.V794I	.	417	1102	2	1	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00890788794536	8.1e-05	0.00159744	0.0008	0.0001	0.0002	0.0001	0	0.0002	0	0.0047	0.0006921	107	154602	rs202114232	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0	2.236e-05	0.0011	2.519e-05	0	0.0019	8.094e-05	0.0003	0.0044	0.0002	0.0002	0.0001	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	2.409e-05	0	0	0.0006	0	0	0	7.354e-05	0	0.0058	.	.	.	0.577	0.08594	T	.	.	.	.	.	.	0.000235	0.47286	D	0.000000	0.96736	0.25852	N	.	.	.	.	.	.	.	.	.	0.279	0.31590	-0.9988	0.30255	T	0.129	0.43787	T	10	0.0078550875	0.00178	T	0.008908	0.23487	T	.	.	.	.	0.0806252709748	0.07271	0.09650026235197756	0.09582	.	.	0.478297293186	0.35821	T	0.04315	0.26411	T	-0.359451	0.04161	T	-0.288974	0.45880	T	0.0584335504470382	0.06919	T	0.747125	0.36767	T	0.016736116	0.00218	0.043512616	0.05432	0.016736116	0.00218	0.043512616	0.05431	-3.88	0.22002	T	.	.	0.093	0.14155	B	.;.	.;.	2.979278	0.39734	21.0	0.97606978037481562	0.34881	0.49576	0.28464	N	AEFDBI	0.090539	0.18345	N	-0.0941172914403514	0.37649	2.193525	-0.115267178475584	0.34774	2.004124	0.999999475248285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.838000	0.38851	1.342000	0.25744	0.596000	0.33519	0.014000	0.18986	0.937000	0.28687	0.029000	0.12982	0.0:0.9166:0.0:0.0834	11.634	0.50450	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1159.83	93	chr8	8328402	.	C	T	1159.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=263;ExcessHet=0;FS=0.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.362;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	5	0	1	0
chr8	10319942	10319942	G	A	exonic	MSRA	.	nonsynonymous SNV	MSRA:NM_001135670:exon4:c.G376A:p.A126T,MSRA:NM_001135671:exon5:c.G367A:p.A123T,MSRA:NM_012331:exon5:c.G496A:p.A166T,MSRA:NM_001199729:exon6:c.G298A:p.A100T	.	.	.	.	.	.	.	.	.	.	.	3365303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00231704212706	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs778510160	1.172e-05	1.436e-05	1.234e-05	1.11e-05	4.641e-05	7.14e-06	5.84e-06	7.69e-06	5.74e-06	0	4.641e-05	0	0	0	0	1.265e-05	1.667e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.279	0.30375	T	0.171	0.31326	T	0.001	0.07471	B	0.002	0.10090	B	0.257970	0.15374	N	0.672047	1	0.08975	N	0.3	0.10203	N	.	.	.	-0.52	0.18877	N	0.141	0.19593	-1.0053	0.28368	T	0.065	0.26983	T	8	0.08103067	0.13220	T	0.002317	0.04479	T	0.008	0.00669	.	.	0.0884992946249	0.08302	0.22846338969110827	0.22761	0.00170528863853	0.00144	0.272564828396	0.06477	T	0.248677	0.61852	T	-0.329415	0.06155	T	-0.52943	0.19343	T	0.0222673397511244	0.00939	T	.	.	.	0.03828472	0.05070	0.046465192	0.06480	0.03828472	0.05070	0.046465192	0.06480	-4.576	0.31869	T	.	.	0.074	0.09336	B	.;.;.;.;.	.;.;.;.;.	0.935295	0.13106	9.609	0.93858076411335956	0.23862	0.03091	0.08015	N	AEFBI	0.233029	0.35602	N	-0.623223937898488	0.18249	0.9458694	-0.768861660133933	0.15259	0.8016601	0.00257159069584194	0.09543	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	-0.658	0.10855	-0.178000	0.09775	-1.776000	0.04747	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2338:0.1497:0.41:0.2065	1.256	0.01871	946	0.12043	Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA;.;Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA|Peptide methionine sulphoxide reductase MsrA;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1346.83	111	chr8	10319942	.	G	A	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.793;DP=287;ExcessHet=0;FS=0.711;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.23;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	5	0	1	0
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	169.0	111	chr8	10609948	.	C	T	169.0	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.724;DP=687;ExcessHet=0;FS=171.753;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.473;SOR=6.735	GT:AD:DP:GQ:PL	0/1:136,16:164:99:173,0,5872	0	0	1	5
chr8	10610092	10610092	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4006A:p.V1336M	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00114577688842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.993e-06	8.955e-06	5.944e-06	6.043e-06	3.264e-05	2.58e-06	1.86e-06	7.7e-07	2.1e-07	3.264e-05	0	0	0	8.69e-05	0	2.896e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.43	0.05440	T	-0.27	0.11366	N	0.135	0.13198	-0.9617	0.38858	T	0.009	0.03227	T	9	0.06748101	0.09407	T	0.001146	0.01410	T	0.040	0.10527	0.199	0.11247	0.0401082797425	0.02173	0.07222556414626348	0.07159	.	.	0.29433619976	0.09559	T	0.029574	0.21161	T	-0.360728	0.04089	T	-0.755937	0.03260	T	0.0672599761496024	0.08261	T	0.427757	0.11540	T	0.024466448	0.01281	0.05155163	0.08318	0.024466448	0.01281	0.05155163	0.08317	-7.74	0.59285	D	.	.	0.145	0.32054	B	.	.	0.126759	0.05232	1.737	0.93971475685794903	0.24046	0.01097	0.04030	N	AEFDBI	0.017489	0.00462	N	-0.928810513650289	0.10172	0.4848509	-0.944094959129912	0.11060	0.5611587	1.26160858260043E-4	0.05386	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	2.78	1.84	0.24348	-0.013000	0.12615	-0.116000	0.11774	-0.640000	0.04453	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	0.0:0.5315:0.2266:0.2418	3.607	0.07591	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.83	55	chr8	10610092	.	C	T	332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.237;DP=1140;ExcessHet=0;FS=11.659;MLEAC=1;MLEAF=0.083;MQ=59.03;MQRankSum=-0.642;QD=6.05;ReadPosRankSum=-2.318;SOR=2.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:190,0:190:99:.:.:0,120,1800:.	5	0	1	0
chr8	11785992	11785992	A	G	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.A535G:p.R179G,NEIL2:NM_001349441:exon4:c.A535G:p.R179G,NEIL2:NM_001135746:exon5:c.A718G:p.R240G,NEIL2:NM_001135748:exon5:c.A370G:p.R124G,NEIL2:NM_001349439:exon5:c.A535G:p.R179G,NEIL2:NM_001349440:exon5:c.A535G:p.R179G,NEIL2:NM_145043:exon5:c.A718G:p.R240G,NEIL2:NM_001349442:exon6:c.A718G:p.R240G	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0171201275	.	.	8.263e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs759717925	1.368e-05	1.368e-05	2.723e-06	2.475e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	6.295e-06	0.0001	2.319e-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	0.102	0.39334	T	0.471	0.20357	T	0.801	0.45051	P	0.522	0.48285	P	0.002946	0.35672	N	0.273781	0.593053	0.31004	N	3.03	0.86425	M	2.37	0.15964	T	-4.36	0.83899	D	0.457	0.49692	-0.9519	0.40643	T	0.079	0.31526	T	10	0.42889994	0.57359	T	0.01712	0.38687	T	0.202	0.48754	.	.	0.495970961353	0.49232	0.5429397104386617	0.54218	0.00782571836696	0.00705	0.445672750473	0.31353	T	0.121645	0.44475	T	-0.0955031	0.37167	T	-0.278106	0.46998	T	0.797300636768341	0.46170	D	0.989121	0.96387	D	0.69050455	0.77539	0.63089263	0.78467	0.69050455	0.77540	0.63089263	0.78468	-10.65	0.77704	D	.	.	0.206	0.51497	B	.;.;.;.;.	.;.;.;.;.	3.567191	0.50221	22.9	0.99711151104856066	0.81353	0.77049	0.37842	D	AEFBI	0.295546	0.40563	N	0.143653775991315	0.48512	3.062546	0.0608248767954214	0.42598	2.579328	0.859724893526196	0.25202	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	1.44	0.21647	0.552000	0.23083	.	.	0.756000	0.94297	0.997000	0.40164	0.998000	0.33993	0.396000	0.26692	0.3778:0.4982:0.0:0.124	7.524	0.26811	958	0.09170	DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;.;.;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2974.83	35	chr8	11785992	.	A	G	2974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.245;DP=553;ExcessHet=0;FS=5.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.644;SOR=0.897	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chr8	11838472	11838472	A	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287756:exon5:c.A616G:p.N206D,FDFT1:NM_001287750:exon7:c.A1294G:p.N432D,FDFT1:NM_001287751:exon7:c.A862G:p.N288D,FDFT1:NM_001287744:exon8:c.A925G:p.N309D,FDFT1:NM_001287747:exon8:c.A925G:p.N309D,FDFT1:NM_001287748:exon8:c.A925G:p.N309D,FDFT1:NM_001287749:exon8:c.A925G:p.N309D,FDFT1:NM_004462:exon8:c.A1117G:p.N373D,FDFT1:NM_001287743:exon9:c.A1117G:p.N373D,FDFT1:NM_001287745:exon9:c.A925G:p.N309D,FDFT1:NM_001287742:exon10:c.A1117G:p.N373D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00642284844805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373133591	6.875e-07	6.84e-07	0	1.384e-06	9.028e-07	0	0	.	.	0	0	0	0	0	0	9.028e-07	0	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.14	0.25664	T	0.455	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.865157	0.07140	N	1.052520	0.999997	0.18878	N	0.345	0.11182	N	1.57	0.41750	T	-0.34	0.17417	N	0.075	0.10626	-1.0193	0.23943	T	0.060	0.25163	T	10	0.048363864	0.04276	T	0.006423	0.16899	T	0.025	0.05312	0.247	0.18293	0.144782658237	0.14088	0.2333710558690042	0.23252	.	.	0.281569838524	0.07712	T	0.185689	0.53874	T	-0.342449	0.05221	T	-0.729681	0.04342	T	0.0310740702048689	0.02158	T	0.678032	0.28700	T	0.059218846	0.12008	0.051983092	0.08476	0.059218846	0.12007	0.051983092	0.08475	-3.271	0.15835	T	.	.	0.063	0.01884	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.837901	0.23349	15.98	0.96820111452851043	0.31221	0.39731	0.26278	N	AEFBHCI	0.432608	0.49441	N	-0.992421475490481	0.08764	0.4122215	-0.906247847177337	0.11947	0.6117188	0.999918202002774	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	3.12	0.34986	0.617000	0.24053	.	.	-0.122000	0.13826	0.004000	0.16614	0.998000	0.33993	0.848000	0.40082	0.6939:0.0:0.3061:0.0	8.013	0.29526	970	0.06235	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2283.83	42	chr8	11838472	.	A	G	2283.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.224;DP=425;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.23;SOR=0.714	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2710.75	.	chr8	12132989	.	C	T	2710.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.225;DP=776;ExcessHet=0;FS=2.501;MLEAC=1;MLEAF=0.1;MQ=51.86;MQRankSum=-5.133;QD=14.19;ReadPosRankSum=-1.062;SOR=0.518	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	4	0	1	1
chr8	12137952	12137952	T	G	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.A809C:p.H270P	.	575	930	16	1	0	18	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00123841217267	.	0.00179712	0.0002	0	0.0004	0.0002	0	0.0001	0	0.0008	0.0003458	9	26028	rs551224100	0.0006	0.0031	0.0006	0.0005	0.0013	0.0005	0.0005	0.0008	0.0008	0.0005	0.0005	0.0004	0	0.0003	0.0013	0.0006	0.0006	0.0010	0.0003	0.0007	0.0003	0.0003	0.0013	0.0002	0.0002	0.0008	0.0007	0.0002	0	0.0013	0	0	0.0002	0	0.0002	0	0.0002	0.017	0.51248	D	0.002	0.79402	D	0.007	0.14184	B	0.003	0.08700	B	0.000463	0.44119	D	0.143175	1	0.08975	N	3.265	0.90016	M	1.53	0.30401	T	-7.99	0.96426	D	0.439	0.47765	-0.9017	0.47814	T	0.107	0.39051	T	10	0.017846763	0.00384	T	0.001238	0.01658	T	0.131	0.35738	.	.	0.383256108077	0.37933	0.06571566565063057	0.06510	0.582843186882	0.54023	0.553416967392	0.46339	T	0.008134	0.07480	T	-0.0987034	0.36640	T	-0.379557	0.35774	T	0.965151131153107	0.67179	D	0.233377	0.03180	T	0.6745935	0.76679	0.38457483	0.63395	0.6745935	0.76680	0.38457483	0.63395	-8.94	0.67310	D	.	.	0.627	0.69975	P	.	.	2.283964	0.29208	18.05	0.831239738730433	0.14555	0.03478	0.08638	N	AEFI	0.065702	0.12830	N	-0.645579563684511	0.17589	0.9063794	-0.857662995886589	0.13103	0.6779107	6.21968687468632E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	2.995000	0.49129	2.197000	0.31255	0.301000	0.18947	0.540000	0.27267	0.029000	0.21193	0.009000	0.08673	0.0:0.0:0.0:1.0	3.861	0.08501	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	0.003822	0.000000	0.000000	0.009709	0.000000	0.000000	0.000000	0.019231	0.2	270.93	.	chr8	12137952	.	T	G	270.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.76;DP=1137;ExcessHet=0.5115;FS=28.453;MLEAC=2;MLEAF=0.2;MQ=47.73;MQRankSum=-3.195;QD=0.55;ReadPosRankSum=-2.235;SOR=3.57	GT:AD:DP:GQ:PL	0/1:265,27:292:89:89,0,7373	3	0	2	1
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A,MTUS1:NM_001001925:exon2:c.A1771G:p.T591A,MTUS1:NM_001363057:exon2:c.A1771G:p.T591A,MTUS1:NM_001363059:exon2:c.A1771G:p.T591A,MTUS1:NM_001363060:exon2:c.A1771G:p.T591A,MTUS1:NM_001363061:exon2:c.A1771G:p.T591A,MTUS1:NM_001363062:exon2:c.A1771G:p.T591A,MTUS1:NM_001363058:exon3:c.A1771G:p.T591A	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	2675.83	34	chr8	17754037	.	T	C	2675.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.43;DP=372;ExcessHet=0;FS=1.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.534;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1124	5	0	1	0
chr8	17874493	17874493	A	T	exonic	FGL1	.	stopgain	FGL1:NM_004467:exon4:c.T273A:p.Y91X,FGL1:NM_147203:exon4:c.T273A:p.Y91X,FGL1:NM_201552:exon5:c.T273A:p.Y91X,FGL1:NM_201553:exon5:c.T273A:p.Y91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.267e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs773110889	4.803e-06	4.788e-06	5.46e-06	4.14e-06	6.305e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.305e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512635	0.11828	N	0.797812	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.743	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357448	0.87056	D	0.275673	0.86888	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High;High;High	7.575720	0.96655	36	0.99074377898242949	0.51810	0.08034	0.14010	N	AEFBI	0.359716	0.44994	N	-0.118529932708923	0.36587	2.116765	-0.477677614269446	0.22769	1.238404	0.222722463866124	0.18374	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.36	-2.9	0.05310	0.162000	0.16318	1.734000	0.28349	0.756000	0.94297	0.010000	0.18352	0.994000	0.32194	0.813000	0.38311	0.458:0.0:0.5419:0.0	13.263	0.59548	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	.	.	.	.	.	.	.	.	0.08333	808.83	35	chr8	17874493	.	A	T	808.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=224;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.714;SOR=0.973	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	5	0	1	0
chr8	17962121	17962121	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.A2410G:p.S804G,PCM1:NM_001352652:exon15:c.A2410G:p.S804G,PCM1:NM_001315507:exon16:c.A2410G:p.S804G,PCM1:NM_001315508:exon16:c.A2413G:p.S805G,PCM1:NM_001352634:exon16:c.A2410G:p.S804G,PCM1:NM_001352639:exon16:c.A2410G:p.S804G,PCM1:NM_001352640:exon16:c.A2413G:p.S805G,PCM1:NM_001352641:exon16:c.A2410G:p.S804G,PCM1:NM_001352644:exon16:c.A2410G:p.S804G,PCM1:NM_001352646:exon16:c.A2410G:p.S804G,PCM1:NM_001352649:exon16:c.A2413G:p.S805G,PCM1:NM_001352651:exon16:c.A2527G:p.S843G,PCM1:NM_001352654:exon16:c.A2410G:p.S804G,PCM1:NM_001352658:exon16:c.A2410G:p.S804G,PCM1:NM_006197:exon16:c.A2410G:p.S804G,PCM1:NM_001352632:exon17:c.A2527G:p.S843G,PCM1:NM_001352636:exon17:c.A2530G:p.S844G,PCM1:NM_001352637:exon17:c.A2527G:p.S843G,PCM1:NM_001352643:exon17:c.A2527G:p.S843G,PCM1:NM_001352655:exon17:c.A2410G:p.S804G,PCM1:NM_001352635:exon18:c.A2413G:p.S805G,PCM1:NM_001352638:exon18:c.A2527G:p.S843G,PCM1:NM_001352642:exon18:c.A2410G:p.S804G,PCM1:NM_001352645:exon18:c.A2410G:p.S804G,PCM1:NM_001352648:exon18:c.A2413G:p.S805G,PCM1:NM_001352653:exon18:c.A2410G:p.S804G,PCM1:NM_001352656:exon18:c.A2410G:p.S804G,PCM1:NM_001352657:exon18:c.A2410G:p.S804G,PCM1:NM_001352633:exon19:c.A2527G:p.S843G,PCM1:NM_001352650:exon19:c.A2527G:p.S843G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00349419692468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25055	T	0.344	0.20745	T	.	.	.	.	.	.	0.123959	0.18899	N	0.615544	1	0.08975	N	.	.	.	3.45	0.33842	T	-1.73	0.41046	N	0.062	0.17278	-1.0570	0.12517	T	0.050	0.21339	T	10	0.070652425	0.10307	T	0.003494	0.07908	T	0.051	0.14325	0.122	0.02867	0.26169431596	0.25797	0.08217163870324999	0.08152	.	.	0.298138737679	0.10125	T	.	.	.	-0.277765	0.10906	T	-0.636767	0.09908	T	0.0455819948381863	0.04708	T	0.681032	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	1.540773	0.19760	14.42	0.97461291883773926	0.34084	0.17449	0.19842	N	AEFDBIJ	0.053138	0.09549	N	-0.743915300584118	0.14800	0.740288	-0.715691337405069	0.16571	0.8771971	0.982556384511255	0.30417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-0.183	0.12631	1.276000	0.32760	2.164000	0.31003	0.756000	0.94297	0.085000	0.22462	0.001000	0.17328	0.769000	0.36481	0.4603:0.279:0.2607:0.0	4.971	0.13465	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1319.83	49	chr8	17962121	.	A	G	1319.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.112;DP=318;ExcessHet=0;FS=1.548;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.581;SOR=0.583	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr8	21909720	21909720	G	A	exonic	DOK2	.	nonsynonymous SNV	DOK2:NM_001317800:exon3:c.C368T:p.S123L,DOK2:NM_201349:exon4:c.C368T:p.S123L,DOK2:NM_003974:exon5:c.C830T:p.S277L	.	421	1097	4	0	0	4	0.00181984	.	.	.	2436647	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0367037663758	.	.	0.0001	0	0	0	0	3.015e-05	0.0011	0.0007	3.84e-05	1	26028	rs779927750	0.0001	0.0001	9.806e-05	0.0001	0.0014	0.0001	9.971e-05	0.0007	0.0006	0	4.473e-05	0	0	0	0.0014	7.194e-05	0.0002	0.0009	3.282e-05	3.28e-05	0	6.712e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.409e-05	0	0.0002	0.035	0.43708	D	0.116	0.47336	T	0.028	0.19712	B	0.006	0.12133	B	0.033392	0.24904	N	0.382752	0.896362	0.30259	N	2.175	0.60977	M	1.87	0.45636	T	-2.41	0.52938	N	0.088	0.06587	-0.8601	0.51256	T	0.131	0.44108	T	10	0.06895843	0.09826	T	0.036704	0.57161	D	0.090	0.26093	0.245	0.17984	0.663891511034	0.66106	0.3743292025830164	0.37346	0.041373833253	0.04440	0.532435894012	0.43378	T	0.29326	0.66596	T	-0.47136	0.00833	T	-0.554058	0.16939	T	0.0515422783792019	0.05769	T	0.779122	0.41282	T	0.08820024	0.20567	0.08435696	0.19400	0.08820024	0.20567	0.08435696	0.19400	-2.387	0.05053	T	.	.	0.135	0.36214	B	.;.	.;.	3.531891	0.49562	22.8	0.98706515243087478	0.44982	0.57984	0.30520	D	AEFDBHCI	0.282455	0.39578	N	-0.196242130849216	0.33291	1.887019	-0.146097606025094	0.33558	1.920882	0.999999999995611	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.42	4.55	0.55429	1.470000	0.34963	9.934000	0.82603	0.676000	0.76740	0.199000	0.24297	1.000000	0.68203	0.098000	0.18187	0.0859:0.0:0.9141:0.0	11.742	0.51066	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	866.83	35	chr8	21909720	.	G	A	866.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.879;DP=267;ExcessHet=0;FS=8.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.758;SOR=2.007	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	0	1	0
chr8	22034509	22034509	-	A	splicing	NPM2	NM_001286680:exon8:c.532-1->A;NM_001286681:exon6:c.365-1->A;NM_182795:exon7:c.532-1->A	.	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	4.51e-05	0.0011	0.0006	0.00011	17	154602	rs770540772	0.0001	0.0004	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	6.043e-05	4.585e-05	7.702e-05	2.522e-05	0	0.0014	9.745e-05	0.0002	0.0007	4.614e-05	5.259e-05	2.577e-05	6.747e-05	0.0002	2.115e-05	1.531e-05	1.174e-05	6.26e-06	4.832e-05	0	0	0	0.0002	0	0	4.423e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	406.79	34	chr8	22034509	.	G	GA	406.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.782;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.215;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	5	0	1	0
chr8	22121201	22121201	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon10:c.C2231T:p.A744V,HR:NM_018411:exon10:c.C2231T:p.A744V	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0402640757816	.	.	1.663e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs754908515	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0.0003	0	0	0	0	0.0002	8.993e-07	4.967e-05	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0001	1.26e-05	7.98e-06	4.735e-05	3.051e-05	0.0001	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.016	0.60972	D	0.935	0.61523	P	0.575	0.56253	P	0.052489	0.22889	N	0.367330	0.99999	0.08975	N	2.19	0.61577	M	-0.86	0.74477	T	-0.43	0.14390	N	0.307	0.36779	-0.6438	0.62983	T	0.353	0.71650	T	10	0.2084634	0.37176	T	0.040264	0.59280	D	0.176	0.44373	.	.	0.831611669049	0.83001	0.4075834966050131	0.40674	0.242101679886	0.26724	0.381248891354	0.22433	T	0.050483	0.28609	T	-0.224697	0.17356	T	-0.32387	0.42148	T	0.34761843085289	0.26925	T	0.857114	0.54640	D	0.042235337	0.06368	0.071863666	0.15436	0.042235337	0.06367	0.071863666	0.15436	-4.474	0.30744	T	.	.	0.087	0.12371	B	.;.	.;.	4.015452	0.59269	24.1	0.99922548168545999	0.98852	0.76598	0.37580	D	AEFDBI	0.231163	0.35443	N	0.243639420384801	0.53324	3.501897	0.229139680243535	0.51472	3.329322	0.999998215145229	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.29	4.35	0.51454	2.039000	0.40815	6.948000	0.57014	0.676000	0.76740	0.025000	0.20085	1.000000	0.68203	0.971000	0.54645	0.0:0.2446:0.7553:0.0	10.823	0.45820	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	555.83	41	chr8	22121201	.	G	A	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.73;DP=267;ExcessHet=0;FS=3.221;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-1.567;SOR=1.094	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1478	5	0	1	0
chr8	23437044	23437044	G	A	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon10:c.C1240T:p.H414Y,ENTPD4:NM_004901:exon10:c.C1264T:p.H422Y	.	434	1075	11	2	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00707083531017	0.0003	0.00119808	0.0012	9.61e-05	0.0016	0	0	0.0002	0.0022	0.0069	0.001022	158	154602	rs139657829	0.0006	0.0006	0.0004	0.0008	0.0065	0.0005	0.0005	0.0061	0.0059	2.987e-05	0.0006	0	0	0	0.0031	0.0001	0.0008	0.0065	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	0.0001	0	0	0	0.0068	0.0001	0.0019	0.0050	0.008	0.58626	D	0.084	0.59732	T	0.829	0.46068	P	0.522	0.48285	P	0.000002	0.62929	D	0.133909	0.953318	0.37824	D	1.525	0.38595	L	2.79	0.11189	T	-2.52	0.54702	D	0.433	0.47672	-1.1105	0.03027	T	0.035	0.14987	T	10	0.011068851	0.00243	T	0.007071	0.18731	T	0.105	0.29889	.	.	0.288727942641	0.28479	0.534895443283127	0.53414	0.213149193583	0.23823	0.496249496937	0.38306	T	0.033946	0.47121	T	-0.535876	0.00355	T	-0.539497	0.18346	T	0.0706206693073606	0.08738	T	0.89551	0.66280	D	0.6849581	0.77237	0.47026655	0.69282	0.6849581	0.77238	0.47026655	0.69282	-4.384	0.30520	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	3.422278	0.47522	22.5	0.99722947962297981	0.82195	0.94050	0.59962	D	AEFBI	0.474694	0.51884	N	0.247822785739112	0.53531	3.521579	0.306732782256088	0.55935	3.756344	0.999658556169345	0.41424	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.59	4.69	0.58546	2.750000	0.47177	5.082000	0.47276	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8502:0.1498	14.320	0.66036	807	0.43470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.08333	1278.83	34	chr8	23437044	.	G	A	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.02;DP=308;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.101;SOR=0.841	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	5	0	1	0
chr8	23682862	23682862	C	G	exonic	NKX3-1	.	nonsynonymous SNV	NKX3-1:NM_001256339:exon1:c.G28C:p.G10R,NKX3-1:NM_006167:exon1:c.G28C:p.G10R	.	283	1219	19	1	0	21	0.00854006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	0.00159744	0.0039	0.0050	0	0	0.0455	0.0045	0	0.0037	0.001119	173	154602	rs199879315	0.0038	0.0036	0.0039	0.0037	0.0059	0.0037	0.0036	0.0041	0.0040	0.0004	0.0020	8.706e-05	0	0.0038	0.0059	0.0042	0.0038	0.0026	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0	0.0018	0	0	0.0025	0.0137	0.0042	0.0024	0.0021	0.134	0.56456	T	0.099	0.38891	T	0.003	0.11197	B	0.004	0.10090	B	0.008725	0.01216	N	4.460320	1	0.08975	N	1.245	0.31408	L	-2.7	0.91643	D	-1.01	0.26639	N	0.114	0.10340	-0.4440	0.70598	T	0.437	0.77663	T	10	0.0044508576	0.00091	T	.	.	.	0.205	0.49236	0.196	0.10839	0.817378622091	0.81565	0.19839726917081543	0.19756	0.843248174428	0.68164	0.675098955631	0.63566	T	0.09831	0.40201	T	-0.383331	0.02968	T	-0.322727	0.42274	T	0.0694187926280806	0.08570	T	0.461754	0.13398	T	0.06653287	0.14324	0.110001214	0.26519	0.06653287	0.14324	0.110001214	0.26519	-3.88	0.22002	T	.	.	0.110	0.21049	B	.;.	.;.	1.568187	0.20082	14.58	0.98761231855630283	0.45816	0.20371	0.21016	N	ALL	0.091290	0.18492	N	-1.17562686390958	0.05370	0.2446397	-1.21933654477296	0.05599	0.267248	0.999997869941008	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.65	-0.838	0.10218	-0.945000	0.04019	-0.451000	0.09099	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3611:0.5543:0.0846	9.973	0.40939	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005252	0.000000	0.004190	0.003067	0.000000	0.009259	0.006579	0.011628	0.08333	90.83	39	chr8	23682862	.	C	G	90.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.857;DP=171;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=1.25;SOR=0.399	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	5	0	1	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.010101	0.013587	0.005848	0.000000	0.017241	0.003049	0.003788	0.08333	1279.83	34	chr8	24442522	.	G	T	1279.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.376;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.465;SOR=0.635	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1290,0,1127	5	0	1	0
chr8	25506584	25506584	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C1873T:p.R625C,CDCA2:NM_152562:exon15:c.C1918T:p.R640C	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00907877226808	.	.	2.507e-05	0	0	0	0	4.548e-05	0	0	1.94e-05	3	154602	rs773590003	9.646e-06	1.026e-05	9.59e-06	9.702e-06	2.403e-05	5.6e-06	4.38e-06	3.99e-06	2.76e-06	0	0	0	0	0	0	8.113e-06	5.007e-05	2.403e-05	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	0.008	0.58626	D	0.005	0.74150	D	0.067	0.23653	B	0.006	0.12133	B	0.198299	0.16666	N	0.574285	1	0.08975	N	0	0.06538	N	0.87	0.46412	T	-1.14	0.29525	N	0.074	0.06720	-1.0529	0.13601	T	0.043	0.18493	T	10	0.05317712	0.05467	T	0.009079	0.23893	T	0.053	0.14996	0.306	0.27646	0.379707525713	0.37584	0.1824084233782259	0.18159	0.11347962357	0.12810	0.282610177994	0.07860	T	0.008331	0.19354	T	-0.304677	0.08226	T	-0.605586	0.12346	T	0.1758199473822	0.18967	T	0.534647	0.17878	T	0.08380742	0.19368	0.04086085	0.04512	0.08380742	0.19367	0.04086085	0.04512	-3.103	0.11330	T	.	.	0.087	0.14201	B	.;.	.;.	1.995664	0.25356	16.73	0.95987257872102483	0.28377	0.02707	0.07358	N	AEFBI	0.055428	0.10162	N	-0.946226434292349	0.09778	0.4642616	-0.941115227461971	0.11130	0.5651229	0.999657107277824	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.18	1.31	0.20837	-0.018000	0.12508	0.249000	0.16404	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.037000	0.13953	0.1583:0.5125:0.1535:0.1757	2.112	0.03480	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	353.83	34	chr8	25506584	.	C	T	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=229;ExcessHet=0;FS=4.06;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=0.976;SOR=1.291	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	5	0	1	0
chr8	28463730	28463730	C	T	exonic	FBXO16	.	nonsynonymous SNV	FBXO16:NM_001258211:exon3:c.G188A:p.R63Q,FBXO16:NM_172366:exon4:c.G224A:p.R75Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0032	0.00798722	0.0053	0.0007	0.0036	0.0292	0.0011	0.0035	0.0055	0.0056	0.0051099	790	154602	rs3735726	0.0048	0.0048	0.0048	0.0048	0.0310	0.0047	0.0047	0.0296	0.0290	0.0007	0.0041	0.0036	0.0310	0.0009	0.0023	0.0042	0.0048	0.0048	0.0037	0.0037	0.0038	0.0036	0.0270	0.0035	0.0034	0.0233	0.0219	0.0010	0	0.0040	0.0035	0.0270	0.0004	0.0034	0.0041	0.0043	0.0039	0.491	0.12032	T	0.49	0.12740	T	0.029	0.19866	B	0.003	0.08700	B	0.611412	0.10863	N	0.750729	0.999665	0.20745	N	0.805	0.20218	L	2.56	0.39990	T	-0.4	0.13805	N	0.151	0.19728	-1.0448	0.15884	T	0.026	0.11220	T	10	0.0026821792	0.00041	T	.	.	.	0.032	0.07718	.	.	0.255777322467	0.25185	0.08502330320680847	0.08436	0.0471141811343	0.05133	0.286356389523	0.08394	T	6.16E-4	0.00258	T	-0.611572	0.00124	T	-0.62826	0.10546	T	0.00453315636866865	0.00048	T	0.813419	0.47426	T	0.033555724	0.03597	0.04583415	0.06253	0.033555724	0.03597	0.04583415	0.06253	-7.056	0.54442	T	.	.	0.063	0.02428	B	.;.;.;.	.;.;.;.	1.784550	0.22686	15.72	0.95745011269057601	0.27708	0.38332	0.25964	N	AEFBI	0.124008	0.23987	N	-0.751000629622611	0.14605	0.728991	-0.552886777216525	0.20729	1.118162	0.227983699836338	0.18432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.63	2.88	0.32617	-0.123000	0.10586	-0.496000	0.08830	-0.259000	0.06933	0.253000	0.24879	0.000000	0.08366	0.948000	0.49324	0.0:0.685:0.0:0.315	9.094	0.35789	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.020202	0.000000	0.002959	0.000000	0.000000	0.006135	0.000000	0.08333	1640.83	33	chr8	28463730	.	C	T	1640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.767;SOR=0.7	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	5	0	1	0
chr8	28716980	28716980	G	T	exonic	EXTL3	.	nonsynonymous SNV	EXTL3:NM_001440:exon3:c.G921T:p.Q307H	.	419	1102	1	0	0	1	0.000453515	.	.	.	1362294	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.725	0.167305811505	.	.	1.649e-05	0	8.646e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs757011891	3.967e-05	3.967e-05	4.22e-05	3.713e-05	0.0003	3.113e-05	2.846e-05	6.092e-05	3.204e-05	0	2.236e-05	0	0	0	0.0003	4.586e-05	3.311e-05	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.188	0.21304	T	0.365	0.16717	T	0.672	0.41203	P	0.497	0.47562	P	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	1.78	0.46185	L	-4.64	0.97920	D	-0.84	0.22944	N	0.809	0.80473	0.714	0.93346	D	0.871	0.95708	D	9	0.72927576	0.74186	D	0.167306	0.84571	D	0.725	0.90324	0.621	0.75576	0.939087737409	0.93846	0.7765167534411681	0.77601	0.385026323921	0.39793	0.564919948578	0.47960	T	0.566603	0.85581	D	0.242336	0.77882	D	0.207177	0.83518	D	0.235190153121948	0.22196	T	0.938306	0.76795	D	0.10740712	0.25398	0.08822775	0.20560	0.10740712	0.25398	0.08822775	0.20559	-4.235	0.27255	T	0.1162174359732632	0.10484	0.67	0.71734	P	.	.	2.419280	0.31107	18.64	0.99528972578487374	0.69715	0.98672	0.85404	D	AEFGBI	0.732829	0.67946	D	0.179622112899484	0.50222	3.214245	0.206983052529656	0.50234	3.217651	0.999999257109709	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.54	2.54	0.29674	4.255000	0.58595	2.226000	0.31491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.1363:0.1204:0.7433:0.0	9.094	0.35789	597	0.68309	.	.	.	.	.	.	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	1750.83	34	chr8	28716980	.	G	T	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.737;DP=325;ExcessHet=0;FS=3.828;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=2.19;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr8	30132316	30132316	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon3:c.G935A:p.R312Q	.	432	1069	21	0	0	21	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0011	0.00259585	0.0062	0	0.0024	0	0.0012	0.0026	0.0041	0.0135	0.0010931	169	154602	rs147712548	0.0020	0.0019	0.0016	0.0025	0.0146	0.0019	0.0019	0.0139	0.0136	0.0002	0.0010	0.0024	0	0.0008	0.0070	0.0012	0.0024	0.0146	0.0014	0.0014	0.0012	0.0016	0.0145	0.0012	0.0012	0.0118	0.0108	9.621e-05	0	0.0018	0.0035	0	0.0006	0	0.0013	0.0019	0.0145	0.697	0.04213	T	0.616	0.07543	T	0.027	0.19556	B	0.012	0.16012	B	0.261604	0.03712	N	1.604190	1	0.08975	N	0.29	0.10111	N	-0.71	0.72889	T	-0.34	0.12661	N	0.056	0.02759	-1.0408	0.17071	T	0.117	0.41341	T	9	0.006554872	0.00149	T	.	.	.	0.061	0.17616	.	.	0.374255764437	0.37033	0.3869578746534554	0.38610	.	.	0.213384717703	0.00963	T	0.059465	0.31122	T	-0.530605	0.00381	T	-0.523278	0.19964	T	0.00626107664933781	0.00069	T	0.488651	0.14976	T	0.024338823	0.01255	0.032818653	0.02076	0.024338823	0.01255	0.032818653	0.02076	-4.223	0.27083	T	.	.	0.070	0.03336	B	.	.	-0.738689	0.01234	0.063	0.86212942198657228	0.16386	0.01673	0.05349	N	AEFGBI	.	.	.	-1.31547530602023	0.03497	0.1563344	-1.34201333366928	0.03900	0.1829128	0.978163069639916	0.29893	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.16	-2.61	0.05811	-2.511000	0.01035	-3.773000	0.02547	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.2385:0.44:0.0:0.3215	4.624	0.11857	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	0.008621	0.005319	0.000000	0.000000	0.000000	0.000000	0.005882	0.051282	0.08333	2144.83	49	chr8	30132316	.	C	T	2144.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.15;DP=348;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.418;SOR=0.692	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr8	30837646	30837646	T	A	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon10:c.A8638T:p.N2880Y	.	.	.	.	.	.	.	.	.	.	.	2451337	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.014080887149	.	.	8.252e-05	0	8.657e-05	0	0	0	0	0.0005	6.47e-05	10	154602	rs758605539	4.105e-05	4.104e-05	2.178e-05	6.051e-05	0.0007	3.245e-05	2.919e-05	0.0005	0.0005	0	0	0	0	0	0	0	1.656e-05	0.0007	3.286e-05	3.283e-05	0	6.725e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.023	0.48186	D	0.049	0.48336	D	0.876	0.48154	P	0.346	0.42645	B	0.266535	0.15210	N	0.618971	0.999017	0.21709	N	0.345	0.11182	N	2.9	0.10101	T	-1.56	0.37759	N	0.184	0.19995	-1.0246	0.22214	T	0.016	0.06664	T	10	0.044591784	0.03433	T	0.014081	0.33954	T	0.075	0.21907	0.226	0.15109	0.334161072951	0.33023	0.04308887828396826	0.04253	0.0942058110094	0.10638	0.258803337812	0.04749	T	0.259835	0.63115	T	-0.567901	0.00228	T	-0.692733	0.06232	T	0.121947096149455	0.14619	T	0.531447	0.17660	T	0.07042078	0.15508	0.0639108	0.12730	0.07042078	0.15508	0.0639108	0.12729	-4.814	0.34754	T	.	.	0.094	0.14523	B	.;.;.	.;.;.	1.393275	0.18062	13.53	0.96665035887225481	0.30643	0.34738	0.25138	N	AEBI	0.061246	0.11695	N	-0.410592579138127	0.25097	1.359888	-0.445601700459416	0.23674	1.292272	0.0347439752323815	0.14168	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.0	3.8	0.42887	0.927000	0.28418	0.762000	0.21323	-0.120000	0.14102	0.276000	0.25103	0.742000	0.26489	0.005000	0.06747	0.0:0.0:0.185:0.815	9.098	0.35815	744	0.52588	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1109.83	34	chr8	30837646	.	T	A	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=312;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-2.027;SOR=1.137	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	5	0	1	0
chr8	30848416	30848416	G	A	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C1751T:p.S584L	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00526435891446	.	.	9.912e-05	0	0	0	0	1.5e-05	0	0.0007	7.76e-05	12	154602	rs759705675	5.13e-05	5.13e-05	2.859e-05	7.426e-05	0.0006	4.192e-05	3.823e-05	0.0005	0.0005	5.974e-05	0	0	0	0	0.0003	9.892e-06	8.279e-05	0.0006	4.599e-05	4.594e-05	1.286e-05	8.062e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	2.408e-05	0	0	0	0.0002	0	0	0	0	0.0010	0.099	0.30656	T	0.004	0.74150	D	0.333	0.33288	B	0.061	0.26820	B	0.199087	0.16647	N	0.497156	0.999986	0.18198	N	0.92	0.23413	L	2.84	0.10674	T	-2.81	0.59389	D	0.152	0.15609	-1.0258	0.21821	T	0.022	0.09147	T	10	0.036360413	0.01930	T	0.005264	0.13433	T	0.026	0.05648	0.192	0.10304	0.299427821978	0.29548	0.0884356278364716	0.08776	0.0235980657725	0.02396	0.299876958132	0.10382	T	0.275545	0.64808	T	-0.541573	0.00328	T	-0.659331	0.08312	T	0.0273420734930452	0.01593	T	0.551245	0.19007	T	0.04391709	0.06931	0.08305664	0.19004	0.04391709	0.06930	0.08305664	0.19004	-3.603	0.17900	T	.	.	0.077	0.07318	B	.;.;.	.;.;.	0.637592	0.10061	6.810	0.86456550318176584	0.16548	0.09555	0.15285	N	AEFGBI	0.074606	0.14957	N	-0.811979961291721	0.13004	0.6376487	-0.843921978442824	0.13433	0.696854	0.681302570918417	0.22482	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.67	2.9	0.32809	0.582000	0.23535	1.741000	0.28400	-0.693000	0.04107	0.001000	0.13787	0.009000	0.19889	0.006000	0.07323	0.2327:0.0:0.7673:0.0	9.191	0.36359	732	0.54084	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1630.83	33	chr8	30848416	.	G	A	1630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.194;SOR=0.727	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr8	31080997	31080997	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.A970G:p.T324A	Werner syndrome, Autosomal recessive	1	1464	56	1	0	58	0.019424	.	.	YES	139188	Wiskott-Aldrich_syndrome|Werner_syndrome|not_specified|not_provided|Malignant_tumor_of_breast	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00505079907063	0.0030	0.00299521	0.0036	0.0008	0.0019	0.0006	0.0002	0.0037	0.0044	0.0091	0.0035252	545	154602	rs1800390	0.0034	0.0034	0.0032	0.0035	0.0168	0.0033	0.0033	0.0141	0.0131	0.0009	0.0027	0.0031	5.045e-05	0.0001	0.0168	0.0032	0.0043	0.0090	0.0027	0.0027	0.0024	0.0030	0.0085	0.0025	0.0024	0.0064	0.0057	0.0009	0	0.0033	0.0026	0.0002	0.0002	0.0068	0.0038	0.0038	0.0085	0.359	0.11957	T	0.432	0.13634	T	0.003	0.11197	B	0.004	0.10090	B	0.286245	0.03865	N	1.445540	1	0.08975	N	0.075	0.08292	N	1.0	0.41392	T	-0.85	0.23156	N	0.026	0.00527	-1.0313	0.20034	T	0.056	0.23753	T	10	0.0030954778	0.00051	T	0.005051	0.12784	T	0.018	0.03083	.	.	0.214338557667	0.21045	0.14327334679901807	0.14250	0.0637302715162	0.07097	0.230082198977	0.01974	T	0.102429	0.41014	T	-0.67586	0.00051	T	-0.737063	0.04015	T	0.00531589299191147	0.00057	T	0.305869	0.05863	T	0.022202376	0.00867	0.0239113	0.00404	0.022202376	0.00867	0.0239113	0.00404	-3.795	0.20730	T	.	.	0.064	0.01715	B	.	.	-1.003236	0.00766	0.024	0.55756443819337698	0.05409	0.01764	0.05543	N	AEFDBI	0.019684	0.00706	N	-1.35196350224658	0.03105	0.1381541	-1.4355450691311	0.02904	0.1344473	0.488924830504959	0.20846	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	-6.52	0.01703	-1.501000	0.02385	-1.533000	0.05227	-0.589000	0.04658	0.000000	0.06391	0.000000	0.08366	0.221000	0.22489	0.4115:0.0:0.4829:0.1056	9.139	0.36052	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015609	0.015152	0.013587	0.020468	0.000000	0.017241	0.009146	0.030303	0.1667	1652.06	33	chr8	31080997	.	A	G	1652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=262;ExcessHet=0.4139;FS=3.444;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.654;SOR=1.035	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	4	0	2	0
chr8	31091882	31091882	C	A	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon16:c.C1882A:p.L628I	Werner syndrome, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	396185	Werner_syndrome|not_provided	MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00844216436885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77969734	6.846e-06	7.524e-06	4.087e-06	9.633e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	2.7e-06	6.63e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.444	0.13177	T	0.08	0.24543	B	0.091	0.29943	B	0.496365	0.12000	N	0.756014	0.999957	0.19072	N	0.695	0.17993	N	3.54	0.04799	T	-0.47	0.15178	N	0.137	0.13484	-0.9172	0.45931	T	0.011	0.03996	T	10	0.08407211	0.14054	T	0.008442	0.22332	T	0.082	0.23913	0.579	0.70476	0.276898752692	0.27294	0.4540127183215048	0.45319	0.101851402616	0.11526	0.314609020948	0.12604	T	0.047653	0.27785	T	-0.439753	0.01297	T	-0.687923	0.06509	T	0.0266259025274164	0.01491	T	0.647135	0.25820	T	0.08215397	0.18912	0.03846268	0.03719	0.08215397	0.18912	0.03846268	0.03719	-4.865	0.35339	T	.	.	0.079	0.07177	B	.	.	0.970752	0.13477	9.988	0.89761278805138589	0.19078	0.06831	0.12856	N	AEFBI	0.026645	0.02036	N	-0.764372050483825	0.14245	0.7080725	-0.697553998994765	0.17021	0.9031948	1.02646181355199E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	0.95	0.18697	0.032000	0.13620	-0.311000	0.10039	0.599000	0.40250	0.290000	0.25233	0.080000	0.22369	0.280000	0.24017	0.4407:0.3852:0.0985:0.0756	5.019	0.13692	929	0.16858	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	718.83	74	chr8	31091882	.	C	A	718.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.035;DP=244;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.62;SOR=0.544	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1086	5	0	1	0
chr8	35766935	35766935	C	T	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon15:c.C2332T:p.R778W,UNC5D:NM_080872:exon15:c.C2347T:p.R783W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0177795975324	.	.	1.656e-05	0	0	0	0	1.504e-05	0	6.171e-05	1.94e-05	3	154602	rs776286236	1.437e-05	1.505e-05	1.089e-05	1.788e-05	6.713e-05	9.23e-06	7.84e-06	1.78e-05	8.93e-06	5.975e-05	6.713e-05	0	0	0	0	9.894e-06	3.312e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.61437	D	0.001	0.83351	D	0.996	0.73220	D	0.549	0.55529	P	0.002543	0.36353	N	0.306161	0.97183	0.41471	D	1.04	0.26193	L	0.55	0.55266	T	-3.51	0.71882	D	0.315	0.37613	-0.8119	0.54435	T	0.172	0.51325	T	10	0.24121574	0.41295	T	0.01778	0.39611	T	0.213	0.50496	.	.	0.043077524339	0.03247	0.31848388457085863	0.31761	0.974683858962	0.73517	0.512889385223	0.40626	T	0.240032	0.60827	T	-0.266257	0.12177	T	-0.383568	0.35305	T	0.327166193854221	0.26111	T	0.913909	0.77922	D	0.17509648	0.38349	0.16571566	0.38322	0.17509648	0.38349	0.16571566	0.38321	-8.119	0.62385	D	.	.	0.129	0.27642	B	.;.;.;.;.;.	.;.;.;.;.;.	4.264982	0.64845	24.8	0.9992083301251854	0.98721	0.96624	0.70078	D	AEFI	0.775157	0.70865	D	0.309724173608597	0.56646	3.829693	0.345187421716337	0.58219	3.991108	0.320688463292029	0.19381	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.79	4.0	0.45673	3.411000	0.52425	0.897000	0.22519	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.8646:0.0:0.1354	12.461	0.55070	682	0.59757	UPA domain;UPA domain;UPA domain;UPA domain;.;UPA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	962.83	65	chr8	35766935	.	C	T	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=245;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.447;SOR=0.563	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1378	5	0	1	0
chr8	37765583	37765583	A	G	exonic	PLPBP	.	startloss	PLPBP:NM_001349346:exon2:c.A157G:p.M53V,PLPBP:NM_001349347:exon2:c.A157G:p.M53V,PLPBP:NM_001349348:exon2:c.A1G:p.M1?,PLPBP:NM_001349349:exon2:c.A262G:p.M88V,PLPBP:NM_007198:exon2:c.A157G:p.M53V	Epilepsy, early-onset, vitamin B6-dependent, Autosomal recessive	432	1057	33	0	0	33	0.0153703	.	.	.	700577	Epilepsy,_early-onset,_vitamin_B6-dependent|PLPBP-related_disorder|not_provided	MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.165	.	0.0025	0.00299521	0.0040	0.0002	0.0016	0	0	0.0044	0.0044	0.0105	0.0037386	578	154602	rs79148472	0.0030	0.0030	0.0026	0.0033	0.0114	0.0029	0.0029	0.0108	0.0106	0.0003	0.0025	0.0360	0	9.362e-05	0.0097	0.0017	0.0052	0.0114	0.0036	0.0036	0.0036	0.0037	0.0118	0.0034	0.0033	0.0094	0.0085	0.0004	0.0581	0.0068	0.0349	0.0002	0	0.0102	0.0027	0.0066	0.0118	0.186	0.43708	T	0.269	0.65728	T	0.03	0.20002	B	0.036	0.22909	B	0.000002	0.62929	N	0.129180	0.999947	0.51968	D	.	.	.	1.1	0.39050	T	-1.26	0.33197	N	0.363	0.40465	-1.0971	0.04460	T	0.041	0.17488	T	10	0.0074546933	0.00234	T	.	.	.	0.165	0.42395	.	.	0.375326005269	0.37140	0.6676253969053125	0.66700	0.393107289621	0.40487	0.498717695475	0.38649	T	0.115455	0.43406	T	-0.397739	0.02396	T	-0.334706	0.40943	T	0.0174620146107762	0.00482	T	0.870713	0.70943	D	0.16238672	0.36311	0.24272025	0.49699	0.18322273	0.39578	0.25851876	0.51584	-9.208	0.69025	D	0.2352886415509135	0.31858	0.132	0.28406	B	.;.;.	.;.;.	1.941475	0.24657	16.48	0.98291450862916874	0.39954	0.96462	0.69259	D	AEFBI	0.543781	0.55897	D	-0.351469607905831	0.27217	1.491578	-0.161590075980083	0.32965	1.880748	0.999970943173882	0.50053	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	3.19	0.35720	4.095000	0.57456	2.187000	0.31177	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.79:0.1383:0.0717:0.0	7.911	0.28952	798	0.45050	Alanine racemase, N-terminal;Alanine racemase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.025253	0.010870	0.014620	0.050000	0.017241	0.003049	0.034091	0.08333	1170.83	35	chr8	37765583	.	A	G	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.67;DP=248;ExcessHet=0;FS=2.063;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.636;SOR=1.08	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	5	0	1	0
chr8	37835213	37835213	C	T	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon12:c.C1648T:p.P550S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	7.7e-05	0.00579073	0.0030	0.0002	0.0003	0	0	1.526e-05	0.0023	0.0211	0.0025873	400	154602	rs200624144	0.0013	0.0013	0.0007	0.0018	0.0200	0.0012	0.0012	0.0192	0.0189	0.0001	6.708e-05	0	2.519e-05	0	0.0005	9.892e-06	0.0018	0.0200	0.0009	0.0009	0.0005	0.0013	0.0270	0.0008	0.0007	0.0232	0.0218	7.218e-05	0	6.534e-05	0	0	0	0.0034	0	0	0.0270	0.22	0.18956	T	0.241	0.24334	T	0.506	0.37245	P	0.12	0.32230	B	0.001620	0.38497	N	0.219125	0.999107	0.81001	D	.	.	.	0.47	0.56114	T	-2.75	0.58407	D	0.737	0.73735	-0.9734	0.36474	T	0.134	0.44817	T	10	0.008160889	0.00185	T	.	.	.	0.083	0.24192	.	.	0.395894371353	0.39203	0.7590296466410396	0.75850	0.703163881875	0.61253	0.594106912613	0.52073	T	0.55147	0.84821	D	-0.39929	0.02340	T	-0.330073	0.41460	T	0.0227330802238697	0.00992	T	0.607439	0.22904	T	0.15712915	0.35422	0.15926391	0.37152	0.15712915	0.35422	0.15926391	0.37151	-9.977	0.73774	D	.	.	0.462	0.62786	A	.	.	3.830622	0.55368	23.6	0.99542247246413829	0.70586	0.87079	0.46512	D	AEFDBCI	0.546155	0.56037	D	0.124930273047473	0.47628	2.985836	0.257509888275316	0.53077	3.478588	0.999999868757477	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	2.589000	0.45810	5.968000	0.51946	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.635	0.91332	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	1079.83	40	chr8	37835213	.	C	T	1079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.698;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.845;SOR=0.602	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr8	37872011	37872011	C	T	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.G2791A:p.E931K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0252995184957	7.7e-05	.	5.784e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs370083013	4.857e-05	4.857e-05	4.764e-05	4.95e-05	0.0003	3.926e-05	3.605e-05	6.092e-05	2.671e-05	5.974e-05	0	0.0006	0	0	0.0003	3.957e-05	9.934e-05	1.159e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	6.544e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0.0006	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.018	0.59732	D	1.0	0.90584	D	0.995	0.83170	D	0.000073	0.52346	D	0.000000	0.829463	0.81001	D	2.28	0.64929	M	1.66	0.27486	T	-1.51	0.36787	N	0.317	0.35727	-1.0479	0.14988	T	0.126	0.43236	T	10	0.16712287	0.31188	T	0.025	0.48274	D	0.173	0.43840	.	.	0.482357354261	0.47867	0.11131213914209154	0.11060	0.441933971099	0.44173	0.42034381628	0.27883	T	0.005552	0.05002	T	-0.118288	0.33405	T	-0.344043	0.39887	T	0.538108646869659	0.34034	D	0.763824	0.39073	T	0.27833936	0.50888	0.30315858	0.56347	0.27833936	0.50888	0.30315858	0.56346	-3.808	0.20924	T	.	.	0.239	0.47305	B	.	.	4.042488	0.59857	24.1	0.99920122031456704	0.98721	0.88569	0.48558	D	AEFDBCIJ	0.301814	0.41023	N	0.194398555552436	0.50929	3.278488	0.119216758686369	0.45532	2.814732	0.99999999862598	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.19	5.19	0.71428	2.657000	0.46389	4.007000	0.41127	0.599000	0.40250	0.523000	0.27135	0.999000	0.35428	0.858000	0.40661	0.0:1.0:0.0:0.0	15.443	0.74927	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2433.83	187	chr8	37872011	.	C	T	2433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=379;ExcessHet=0;FS=5.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.57;SOR=1.055	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	5	0	1	0
chr8	37872968	37872968	T	C	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.A1834G:p.I612V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0066	0.00798722	0.0030	0.0191	0.0010	0	0	0.0001	0	0.0085	0.0027296	422	154602	rs79502532	0.0013	0.0013	0.0012	0.0015	0.0189	0.0013	0.0013	0.0177	0.0172	0.0189	0.0011	7.652e-05	2.519e-05	0	0.0012	0.0003	0.0019	0.0089	0.0060	0.0060	0.0062	0.0058	0.0195	0.0057	0.0055	0.0184	0.0180	0.0195	0	0.0019	0.0003	0	0	0	0.0002	0.0014	0.0116	0.414	0.10020	T	0.392	0.15406	T	0.022	0.18677	B	0.01	0.14941	B	0.204720	0.16512	N	0.573508	1	0.08975	N	1.655	0.42436	L	2.46	0.14907	T	-0.4	0.13805	N	0.069	0.04188	-0.9817	0.34608	T	0.010	0.03765	T	10	0.0030185282	0.00049	T	.	.	.	0.009	0.00846	.	.	0.227260227426	0.22338	0.07184475373024962	0.07121	0.0619570086035	0.06898	0.231771245599	0.02102	T	0.002488	0.01875	T	-0.730944	0.00024	T	-0.80647	0.01746	T	0.000388127108668144	0.00003	T	0.560444	0.19591	T	0.021733193	0.00792	0.026590774	0.00757	0.021733193	0.00792	0.026590774	0.00757	-1.995	0.03162	T	.	.	0.066	0.02091	B	.	.	-0.521796	0.01798	0.140	0.3303954295498972	0.01947	0.19393	0.20643	N	AEFBCI	0.080309	0.16234	N	-1.21220584718371	0.04821	0.2184404	-1.1934040331098	0.06020	0.2885019	0.999606575572457	0.40866	0.566229	0.32551	0	0.615513	0.52658	0	0.679469	0.61720	0	0.613276	0.41899	0	.	.	5.8	0.706	0.17290	-0.566000	0.06013	-2.304000	0.03925	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1372:0.411:0.0:0.4518	5.649	0.16884	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1590.83	125	chr8	37872968	.	T	C	1590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.647;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	5	0	1	0
chr8	38105674	38105674	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_004674:exon1:c.C124T:p.P42S	.	387	1126	9	0	0	9	0.00398054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0218130502301	7.7e-05	.	0.0002	0	9.094e-05	0	0	5.083e-05	0	0.0013	0.0001488	23	154602	rs367605367	7.031e-05	7.319e-05	4.702e-05	9.391e-05	0.0010	5.881e-05	5.486e-05	0.0005	0.0004	0	0.0004	4.103e-05	0	0	0.0010	1.726e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	8.665e-05	7.257e-05	0.0004	0.0003	2.412e-05	0	0.0007	0.0003	0	0	0	7.349e-05	0.0010	0.0002	0.075	0.41915	T	0.227	0.25362	T	0.075	0.24198	B	0.027	0.21085	B	0.340980	0.13964	N	0.710208	0.999383	0.46865	D	1.245	0.31408	L	-0.02	0.62918	T	-0.48	0.15379	N	0.114	0.10198	-0.9991	0.30171	T	0.138	0.45545	T	10	0.019585103	0.00439	T	0.021813	0.44628	T	0.039	0.10176	.	.	0.284112513307	0.28011	0.2041916935709072	0.20336	0.0113752822125	0.01063	0.542414963245	0.44786	T	0.116386	0.43569	T	-0.390668	0.02663	T	-0.420674	0.30999	T	0.0432792604497326	0.04289	T	0.671933	0.28057	T	0.057558633	0.11469	0.12123233	0.29251	0.057377696	0.11411	0.11232863	0.27102	-3.668	0.18847	T	.	.	0.058	0.05060	B	.;.	.;.	2.083031	0.26494	17.14	0.99858047024745122	0.93639	0.18120	0.20128	N	ALL	0.070839	0.14078	N	-0.71952635335122	0.15473	0.7801015	-0.689708336030547	0.17217	0.9145062	0.999999999999968	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.94	4.07	0.46726	1.286000	0.32877	0.163000	0.15428	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.006000	0.07323	0.0:0.9018:0.0:0.0982	9.597	0.38743	172	0.93355	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	213.83	34	chr8	38105674	.	C	T	213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.502;DP=143;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.572;SOR=0.743	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,745	5	0	1	0
chr8	38413726	38413727	CT	-	exonic	FGFR1	.	frameshift deletion	FGFR1:NM_001174066:exon17:c.2103_2104del:p.E703Gfs*7,FGFR1:NM_001354368:exon17:c.2091_2092del:p.E699Gfs*7,FGFR1:NM_023105:exon17:c.2103_2104del:p.E703Gfs*7,FGFR1:NM_023106:exon17:c.2097_2098del:p.E701Gfs*7,FGFR1:NM_001174063:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_001174065:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_015850:exon18:c.2364_2365del:p.E790Gfs*7,FGFR1:NM_023110:exon18:c.2370_2371del:p.E792Gfs*7,FGFR1:NM_001174064:exon19:c.2340_2341del:p.E782Gfs*7,FGFR1:NM_001174067:exon19:c.2463_2464del:p.E823Gfs*7	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1453180	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|not_provided|Encephalocraniocutaneous_lipomatosis|Jackson-Weiss_syndrome|Osteoglophonic_dysplasia|Hartsfield-Bixler-Demyer_syndrome|Trigonocephaly_1	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C3661900|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150,Orphanet:1540|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645|MONDO:MONDO:0014196,MedGen:C1845146,OMIM:615465,Orphanet:2117|MONDO:MONDO:0008603,MedGen:C0432122,OMIM:190440,Orphanet:3366	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.536e-05	0	0.0007	8.41e-05	13	154602	rs767698667	4.378e-05	4.446e-05	3.403e-05	5.363e-05	0.0005	3.509e-05	3.193e-05	0.0003	0.0003	0	0	3.827e-05	5.038e-05	0	0	1.529e-05	6.624e-05	0.0005	4.598e-05	4.593e-05	5.14e-05	4.031e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	1.471e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1881.79	101	chr8	38413725	.	CCT	C	1881.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=278;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=0.5;SOR=0.916	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1383	5	0	1	0
chr8	38819828	38819828	C	T	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001352779:exon3:c.C584T:p.A195V,TACC1:NM_001352781:exon3:c.C584T:p.A195V,TACC1:NM_001352782:exon3:c.C500T:p.A167V,TACC1:NM_001352783:exon3:c.C584T:p.A195V,TACC1:NM_001352784:exon3:c.C500T:p.A167V,TACC1:NM_001352800:exon3:c.C584T:p.A195V,TACC1:NM_006283:exon3:c.C584T:p.A195V,TACC1:NM_001352785:exon4:c.C476T:p.A159V,TACC1:NM_001352787:exon4:c.C476T:p.A159V,TACC1:NM_001352778:exon5:c.C632T:p.A211V,TACC1:NM_001352780:exon5:c.C632T:p.A211V,TACC1:NM_001352786:exon5:c.C449T:p.A150V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00730839127021	7.7e-05	.	4.193e-05	0	0	0.0002	0	4.588e-05	0	0	3.23e-05	5	154602	rs141798350	3.626e-05	3.625e-05	2.995e-05	4.264e-05	0.0002	2.828e-05	2.565e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	3.597e-05	4.968e-05	2.319e-05	2.626e-05	2.625e-05	1.285e-05	4.029e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0	0.264	0.38185	T	0.797	0.18505	T	0.948	0.53620	P	0.24	0.38599	B	0.064947	0.21916	N	0.450027	0.908708	0.36354	D	1.955	0.52871	M	2.92	0.11622	T	-0.71	0.30140	N	0.071	0.04426	-1.0126	0.26101	T	0.023	0.09741	T	10	0.06989983	0.10095	T	0.007308	0.19388	T	0.029	0.06676	.	.	0.477219869099	0.47349	0.10657005588258243	0.10587	0.103722506496	0.11733	0.321185529232	0.13602	T	0.025888	0.29277	T	-0.459401	0.00992	T	-0.597351	0.13034	T	0.0449086010402978	0.04586	T	0.752425	0.37456	T	0.027108183	0.01857	0.049043696	0.07411	0.027108183	0.01857	0.049043696	0.07410	-3.619	0.18132	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	1.210289	0.16035	12.27	0.99580508249582644	0.72980	0.28238	0.23499	N	AEFBCIJ	0.099592	0.20045	N	-0.355073465728478	0.27087	1.483307	-0.39608743653814	0.25113	1.379171	0.99997853032476	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.13	3.32	0.37134	0.101000	0.15088	0.422000	0.18230	0.596000	0.33519	0.006000	0.17386	0.033000	0.21346	0.130000	0.19568	0.0:0.8232:0.0:0.1768	9.083	0.35726	622	0.65860	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1755.83	34	chr8	38819828	.	C	T	1755.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.9;DP=296;ExcessHet=0;FS=2.464;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.05;SOR=0.893	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1766,0,1217	5	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K	Cone-rod dystrophy 9	3	1467	49	3	0	55	0.0184008	.	.	.	193527	Cone-rod_dystrophy_9|not_specified|not_provided	MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011078	0.015152	0.008152	0.002924	0.000000	0.000000	0.018293	0.018939	0.08333	1019.83	34	chr8	39011688	.	G	A	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=296;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.541;SOR=0.942	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1328	5	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	65.07	156	chr8	39963621	.	A	G	65.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.13;DP=652;ExcessHet=0.4139;FS=103.292;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.81;SOR=8.862	GT:AD:DP:GQ:PL	0/0:109,0:109:23:0,23,2018	4	0	2	0
chr8	42187431	42187431	A	T	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_033011:exon5:c.T368A:p.I123N,PLAT:NM_000930:exon6:c.T506A:p.I169N	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	0	1513	9	0	0	9	0.0029654	.	.	.	4024660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.123	0.0293429221252	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	6.156e-05	0	0.0013	0.0002199	34	154602	rs369709932	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	0	0.0002	0	0	0	0.0009	7.845e-05	0.0003	0.0012	9.845e-05	9.842e-05	0.0001	6.711e-05	0.0006	6e-05	4.875e-05	0.0002	8.989e-05	7.213e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0006	0.028	0.57480	D	0.083	0.42614	T	0.0	0.02946	B	0.003	0.08700	B	0.599360	0.05637	N	1.174590	1	0.08975	N	0.715	0.18665	N	0.0	0.62608	T	-3.19	0.65283	D	0.29	0.37820	-1.0631	0.10997	T	0.113	0.40238	T	10	0.010795832	0.00239	T	0.029343	0.51873	D	0.123	0.34020	.	.	0.26547132957	0.26150	0.4148258764237494	0.41398	0.309095719093	0.33226	0.272128045559	0.06420	T	0.309259	0.68130	T	-0.386327	0.02841	T	-0.363086	0.37695	T	0.0177027446815645	0.00501	T	0.39866	0.10319	T	0.18521406	0.39874	0.15777428	0.36875	0.18521406	0.39873	0.15777428	0.36875	-5.971	0.50101	T	.	.	0.104	0.29615	B	.;.;.;.	.;.;.;.	0.516807	0.08858	5.635	0.83817715964603712	0.14937	0.10480	0.15975	N	AEFDGBI	0.119622	0.23339	N	-1.28907177068391	0.03806	0.1706776	-1.31004254826034	0.04300	0.2024988	0.999818585620534	0.43459	0.634777	0.41761	0	0.547309	0.14657	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.95	-2.64	0.05757	0.413000	0.20869	1.743000	0.28415	-0.065000	0.16512	0.001000	0.13787	0.311000	0.24273	0.069000	0.16583	0.4326:0.213:0.2514:0.103	1.952	0.03164	396	0.82953	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;.;Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1150.83	38	chr8	42187431	.	A	T	1150.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.965;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=0.238;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,117,1549:.	5	0	1	0
chr8	47817561	47817561	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon68:c.G9446A:p.G3149D,PRKDC:NM_006904:exon68:c.G9446A:p.G3149D	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	3	1451	65	3	0	71	0.0238816	.	.	.	457879	not_provided|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|Malignant_tumor_of_breast|not_specified	MedGen:C3661900|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0036	0.00838658	0.0088	0.0056	0.0052	0	0	0.0055	0.0087	0.0272	0.0044631	690	154602	rs8178208	0.0037	0.0038	0.0031	0.0044	0.0248	0.0037	0.0036	0.0239	0.0235	0.0043	0.0030	0.0059	0.0001	5.729e-05	0.0210	0.0022	0.0053	0.0248	0.0039	0.0039	0.0037	0.0040	0.0251	0.0036	0.0035	0.0215	0.0201	0.0044	0	0.0026	0.0081	0.0002	9.446e-05	0.0136	0.0029	0.0066	0.0251	.	.	.	0.183	0.29153	T	0.029	0.19866	B	0.094	0.30180	B	0.000949	0.40932	D	0.217402	0.999991	0.58761	D	1.76	0.45711	L	.	.	.	.	.	.	0.169	0.17966	-0.6439	0.62979	T	0.302	0.67279	T	10	0.0056990087	0.00127	T	0.009362	0.24553	T	0.136	0.36778	.	.	0.474515700568	0.47080	0.34185097520819946	0.34098	0.257240741173	0.28296	0.47807687521	0.35791	T	0.077021	0.35556	T	-0.374624	0.03366	T	-0.293978	0.45356	T	0.012189863090418	0.00196	T	0.777822	0.41150	T	0.27504557	0.50569	0.21136695	0.45563	0.2726713	0.50336	0.29716197	0.55748	-3.016	0.12129	T	.	.	0.131	0.28319	B	.;.	.;.	2.214422	0.28255	17.74	0.9353510979718791	0.23359	0.85155	0.44264	D	AEFDBHCI	0.523992	0.54736	D	-0.08396049542195	0.38095	2.226033	0.0505750619888519	0.42099	2.540583	0.999999999834419	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	2.351000	0.43727	1.405000	0.26230	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	19.801	0.96506	612	0.66786	PIK-related kinase, FAT|PIK-related kinase;.	.	.	.	.	.	Likely benign	0	0	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	0.016616	0.010101	0.017663	0.020468	0.000000	0.025862	0.009146	0.022727	0.08333	518.83	52	chr8	47817561	.	C	T	518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.724;DP=219;ExcessHet=0;FS=2.407;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.301;SOR=1.068	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	5	0	1	0
chr8	47893277	47893277	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon31:c.G3709A:p.A1237T,PRKDC:NM_006904:exon31:c.G3709A:p.A1237T	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	0	1493	29	0	0	29	0.00961857	.	.	.	371922	PRKDC-related_disorder|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_provided	.|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.00427168699308	0.0006	0.000199681	0.0010	0.0004	0.0016	0	0	0.0013	0.0025	0.0006	0.0008344	129	154602	rs191531119	0.0007	0.0007	0.0007	0.0008	0.0278	0.0007	0.0007	0.0243	0.0229	0.0010	0.0009	0.0058	0	0	0.0278	0.0005	0.0018	0.0008	0.0006	0.0006	0.0007	0.0005	0.0007	0.0005	0.0005	0.0005	0.0004	7.218e-05	0	0.0007	0.0081	0	0	0.0102	0.0006	0.0033	0.0004	0.398	0.10553	T	0.406	0.14725	T	0.075	0.24198	B	0.08	0.28873	B	0.000423	0.44522	N	0.195454	0.987602	0.24499	N	.	.	.	4.37	0.02437	T	-0.9	0.24244	N	0.045	0.02559	-0.9225	0.45210	T	0.007	0.02360	T	9	0.00720194	0.00164	T	0.004272	0.10341	T	0.048	0.13305	.	.	0.288221626996	0.28429	0.2577901571421005	0.25693	0.160355348195	0.18093	0.289789557457	0.08891	T	0.114369	0.43213	T	-0.649918	0.00072	T	-0.75189	0.03413	T	0.0173658003147706	0.00475	T	0.760924	0.38541	T	0.027305225	0.01904	0.060164414	0.11413	0.033926997	0.03710	0.067229226	0.13879	-3.462	0.15904	T	0.3477253227131244	0.44515	0.082	0.08802	B	.;.	.;.	0.931801	0.13072	9.574	0.5586442457726889	0.05431	0.62056	0.31667	D	AEFDBI	0.062470	0.12011	N	-0.562255373657403	0.20101	1.057191	-0.509359093036359	0.21898	1.186849	0.326110412030161	0.19435	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.04	0.46262	1.696000	0.37392	1.058000	0.23696	-0.929000	0.02155	0.800000	0.29721	0.483000	0.25112	0.005000	0.06747	0.18:0.5942:0.0:0.2258	5.078	0.13978	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.020202	0.036685	0.070175	0.000000	0.008621	0.009146	0.000000	0.08333	1729.83	34	chr8	47893277	.	C	T	1729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.547;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.462;SOR=0.741	GT:AD:DP:GQ:PL	0/1:51,69:120:99:1740,0,1240	5	0	1	0
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E,MCM4:NM_182746:exon5:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	314607	Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency|not_provided	MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.000000	0.050000	0.008621	0.009146	0.007576	0.08333	781.83	33	chr8	47962392	.	A	G	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=237;ExcessHet=0;FS=1.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0;SOR=1.027	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	5	0	1	0
chr8	49075160	49075160	T	G	exonic	PPDPFL	.	nonsynonymous SNV	PPDPFL:NM_001256596:exon5:c.T242G:p.M81R,PPDPFL:NM_001256597:exon5:c.T242G:p.M81R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.000541215822055	0.0031	0.000998403	0.0024	0.0012	0.0014	0	0.0018	0.0035	0.0045	0.0007	0.0023932	370	154602	rs180910379	0.0033	0.0033	0.0033	0.0033	0.0040	0.0033	0.0032	0.0039	0.0039	0.0010	0.0018	0.0001	2.519e-05	0.0013	0.0024	0.0040	0.0026	0.0009	0.0026	0.0026	0.0028	0.0024	0.0041	0.0024	0.0023	0.0037	0.0035	0.0006	0.0099	0.0032	0.0003	0	0.0021	0	0.0041	0.0019	0.0010	0.015	0.52492	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.19	0.04947	N	0.096	0.07673	-1.0261	0.21723	T	0.027	0.11441	T	4	0.005693257	0.00126	T	5.41E-4	0.00196	T	0.094	0.27141	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.605261	0.00135	T	-0.641789	0.09539	T	0.00610738012166533	0.00067	T	0.214779	0.02659	T	.	.	.	.	.	.	.	.	-2.243	0.04254	T	.	.	0.120	0.24867	B	.;.	.;.	0.687930	0.10564	7.273	0.30085421067863383	0.01628	0.01882	0.05788	N	AEFI	0.040430	0.06014	N	-1.07781643229902	0.07054	0.3265441	-1.33318348274486	0.04008	0.1881722	0.088683850081247	0.16066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.66	-7.23	0.01331	-0.040000	0.12056	-2.989000	0.03163	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1321:0.2911:0.3035:0.2733	1.480	0.02288	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1635.83	37	chr8	49075160	.	T	G	1635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.709;SOR=0.645	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1333	5	0	1	0
chr8	50530203	50530203	A	G	exonic	SNTG1	.	nonsynonymous SNV	SNTG1:NM_001287814:exon9:c.A493G:p.T165A,SNTG1:NM_001321773:exon9:c.A493G:p.T165A,SNTG1:NM_001321777:exon9:c.A493G:p.T165A,SNTG1:NM_001321776:exon10:c.A493G:p.T165A,SNTG1:NM_001321778:exon10:c.A493G:p.T165A,SNTG1:NM_018967:exon10:c.A493G:p.T165A,SNTG1:NM_001287813:exon11:c.A493G:p.T165A,SNTG1:NM_001321775:exon11:c.A493G:p.T165A	.	.	.	.	.	.	.	.	.	.	.	3326332	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.00466219334967	.	.	2.475e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs765351175	1.163e-05	1.163e-05	5.446e-06	1.788e-05	0.0005	7.09e-06	5.79e-06	0.0001	7.546e-05	0	0	0	0	0	0.0005	9.894e-06	4.969e-05	0	3.945e-05	3.938e-05	7.716e-05	0	7.356e-05	1.716e-05	1.13e-05	2.848e-05	1.859e-05	0	0	0	0	0	0	0.0034	7.356e-05	0	0	0.738	0.04699	T	0.636	0.07059	T	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.425	0.12573	N	1.62	0.28189	T	-0.12	0.08809	N	0.724	0.72567	-1.0727	0.08830	T	0.101	0.37417	T	10	0.21802619	0.38432	T	0.004662	0.11566	T	0.258	0.56959	.	.	0.498576615019	0.49493	0.3359602086510024	0.33509	0.0528663543749	0.05827	0.787548303604	0.80070	T	0.009588	0.08721	T	0.0390033	0.56916	T	-0.166265	0.57784	T	0.145985319838885	0.16779	T	0.782222	0.45619	T	0.14534448	0.33321	0.20333917	0.44405	0.14534448	0.33321	0.20333917	0.44404	-3.256	0.13176	T	.	.	0.150	0.54947	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.174651	0.43070	21.7	0.97772422671746317	0.35882	0.96940	0.71775	D	AEFI	0.846140	0.76303	D	0.204674631849614	0.51425	3.323866	0.353277683663965	0.58703	4.042717	0.980587709539666	0.30153	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.68	5.68	0.88021	7.981000	0.87725	9.044000	0.78622	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.755	0.69180	884	0.28482	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1426.83	34	chr8	50530203	.	A	G	1426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.004;DP=300;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.32;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	5	0	1	0
chr8	53939660	53939660	G	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon2:c.G250A:p.G84R,RGS20:NM_003702:exon2:c.G154A:p.G52R,RGS20:NM_170587:exon3:c.G595A:p.G199R	.	434	1084	3	1	0	5	0.00230097	.	.	.	2677238	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0175486056843	0.0002	0.000599042	0.0011	0	0.0032	0	0	0.0013	0.0029	0.0010	0.0005304	82	154602	rs145171609	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0017	0.0014	0.0002	0.0008	0.0014	2.575e-05	0.0001	0.0028	0.0005	0.0007	0.0009	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	7.214e-05	0	0.0001	0.0009	0	0	0	0.0006	0.0019	0.0008	0.107	0.29554	T	0.068	0.44106	T	0.476	0.36665	P	0.018	0.22546	B	0.000000	0.00162	N	9.434290	0.999945	0.51968	D	0.46	0.12951	N	1.06	0.39781	T	-2.3	0.51157	N	0.219	0.32259	-0.9851	0.33808	T	0.096	0.36185	T	10	0.006878078	0.00156	T	0.017549	0.39293	T	0.105	0.29889	0.19	0.10039	0.640616392243	0.63765	0.3122192068859138	0.31134	0.572173580468	0.53320	0.418564289808	0.27639	T	0.213468	0.57479	T	-0.43418	0.01399	T	-0.441997	0.28586	T	0.0138266653733792	0.00262	T	0.738826	0.35731	T	0.14482066	0.33224	0.13043335	0.31342	0.14482066	0.33224	0.13043335	0.31341	-4.275	0.37399	T	.	.	0.141	0.31048	B	.;.;.	.;.;.	1.904010	0.24183	16.30	0.92103513438150508	0.21455	0.78640	0.38829	D	AEFDBI	0.232933	0.35593	N	-0.496720734237631	0.22187	1.182995	-0.49459559697198	0.22303	1.210674	0.99994026683177	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.81	2.98	0.33575	3.085000	0.49849	2.795000	0.34819	0.676000	0.76740	0.996000	0.39380	0.326000	0.24349	0.013000	0.09966	0.1265:0.0:0.8735:0.0	11.590	0.50195	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002525	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.003788	0.08333	214.83	33	chr8	53939660	.	G	A	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.351;DP=202;ExcessHet=0;FS=1.422;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=-0.159;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	5	0	1	0
chr8	55786346	55786346	G	A	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_001317902:exon3:c.G169A:p.D57N,TGS1:NM_001363184:exon3:c.G169A:p.D57N,TGS1:NM_024831:exon4:c.G448A:p.D150N	.	445	1062	13	2	0	17	0.00794021	.	.	.	711583	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.0117076615631	0.0065	0.000998403	0.0059	0.0006	0.0012	0	0.0017	0.0094	0.0056	0.0030	0.0057373	887	154602	rs61740025	0.0073	0.0073	0.0073	0.0073	0.0086	0.0072	0.0071	0.0085	0.0084	0.0012	0.0015	0.0055	5.041e-05	0.0022	0.0061	0.0086	0.0070	0.0027	0.0049	0.0049	0.0054	0.0043	0.0089	0.0046	0.0045	0.0083	0.0081	0.0013	0	0.0018	0.0052	0	0.0019	0	0.0089	0.0038	0.0012	0.238	0.17821	T	0.28	0.21678	T	0.147	0.27870	B	0.035	0.22741	B	0.045469	0.23534	N	0.438834	1	0.08975	N	2.015	0.55033	M	2.21	0.18414	T	-0.88	0.23808	N	0.101	0.08366	-1.0322	0.19745	T	0.033	0.14029	T	10	0.0028980374	0.00046	T	0.011708	0.29605	T	0.085	0.24743	.	.	0.502005994047	0.49837	0.11370694957732977	0.11298	0.0549830316714	0.06090	0.304268658161	0.11041	T	0.031821	0.22214	T	-0.634854	0.00089	T	-0.671727	0.07498	T	0.00651362585566055	0.00073	T	0.785321	0.42297	T	0.03602391	0.04353	0.043781422	0.05526	0.03602391	0.04353	0.043781422	0.05525	-3.877	0.21958	T	.	.	0.079	0.07318	B	.	.	1.554669	0.19923	14.50	0.96901805160595367	0.31542	0.11281	0.16529	N	AEFBI	0.057781	0.10790	N	-0.614333367505788	0.18513	0.9617517	-0.564009282694913	0.20435	1.100928	0.99948680843209	0.39952	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.92	0.64147	2.064000	0.41059	5.039000	0.46894	-0.119000	0.14319	0.057000	0.21666	1.000000	0.68203	0.445000	0.27784	0.1543:0.1523:0.6934:0.0	7.696	0.27764	850	0.35610	.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.002717	0.005848	0.000000	0.025862	0.009146	0.003788	0.08333	1062.83	34	chr8	55786346	.	G	A	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.867;DP=260;ExcessHet=0;FS=8.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.839;SOR=0.229	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr8	56167403	56167403	C	T	exonic	PLAG1	.	nonsynonymous SNV	PLAG1:NM_001114635:exon3:c.G97A:p.D33N,PLAG1:NM_001114634:exon4:c.G343A:p.D115N,PLAG1:NM_002655:exon5:c.G343A:p.D115N	Adenomas, salivary gland pleomorphic, somatic	.	.	.	.	.	.	.	.	.	.	2224890	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00522003700747	.	.	1.722e-05	0	0	0	0	3.143e-05	0	0	1.29e-05	2	154602	rs755390631	4.106e-06	4.104e-06	0	8.254e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.133	0.34359	T	0.002	0.09854	B	0.001	0.04355	B	0.000008	0.62929	D	0.159694	0.999864	0.50061	D	0.19	0.09125	N	2.7	0.59851	T	-2.83	0.60348	D	0.141	0.18512	-1.0285	0.20940	T	0.090	0.34518	T	10	0.1488961	0.28189	T	0.00522	0.13310	T	0.097	0.27909	0.337	0.32654	0.262679179196	0.25893	0.5078026818979449	0.50702	0.546786555214	0.51664	0.619406402111	0.55645	T	0.222961	0.58697	T	-0.276989	0.10990	T	-0.620166	0.11172	T	0.40482559800148	0.29124	T	0.953905	0.83719	D	0.15575814	0.35186	0.1143749	0.27608	0.15575814	0.35186	0.1143749	0.27607	-6.294	0.48674	T	.	.	0.462	0.71006	A	.;.;.	.;.;.	3.691570	0.52601	23.3	0.98799616421796188	0.46429	0.81089	0.40568	D	AEFDBHI	0.116954	0.22933	N	-0.177430586119815	0.34075	1.940676	0.0412433299605973	0.41651	2.505882	0.999947109215586	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.608524	0.38960	0	0.635551	0.53088	0	.	.	5.82	4.83	0.61880	2.547000	0.45446	5.965000	0.51894	0.549000	0.26987	0.986000	0.36153	1.000000	0.68203	0.891000	0.42908	0.0:0.8082:0.0:0.1918	7.029	0.24133	875	0.30485	Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1493.83	34	chr8	56167403	.	C	T	1493.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.81;SOR=0.744	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1179	5	0	1	0
chr8	61567194	61567194	C	T	exonic	ASPH	.	nonsynonymous SNV	ASPH:NM_001164750:exon17:c.G1187A:p.R396H,ASPH:NM_004318:exon17:c.G1274A:p.R425H	Traboulsi syndrome, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	4074158	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0431648805798	.	.	0.0001	0	0	0	0	1.502e-05	0.0011	0.0008	0.0001035	16	154602	rs571146931	6.637e-05	6.635e-05	3.676e-05	9.627e-05	0.0009	5.563e-05	5.153e-05	0.0007	0.0007	0	6.714e-05	3.827e-05	0	1.874e-05	0.0002	1.169e-05	1.656e-05	0.0009	5.911e-05	5.906e-05	1.285e-05	0.0001	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	2.406e-05	0	0	0	0	9.423e-05	0	1.47e-05	0	0.0012	0.021	0.49117	D	0.051	0.48855	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	1.01	0.41058	T	-2.95	0.62151	D	0.837	0.83269	-0.4296	0.71080	T	0.307	0.67786	T	10	0.43067628	0.57469	T	0.043165	0.60843	D	0.280	0.59740	0.437	0.48993	0.53055931775	0.52705	0.7147014716526148	0.71413	0.289078124948	0.31315	0.647467672825	0.59627	T	0.668709	0.90142	D	-0.191746	0.22002	T	-0.104554	0.63043	T	0.38718221806595	0.28457	T	0.970503	0.89388	D	0.33491254	0.55871	0.16884743	0.38875	0.36191088	0.57982	0.1836531	0.41368	-7.792	0.60215	D	.	.	0.362	0.57405	A	.;.	.;.	4.381602	0.67539	25.1	0.99940281156977084	0.99767	0.97777	0.77057	D	AEFBI	0.840053	0.75739	D	0.846112725300693	0.88885	9.750051	0.807951823909868	0.90341	10.36314	0.999999999999625	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	7.088000	0.76565	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.701	0.96050	751	0.51694	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1322.83	33	chr8	61567194	.	C	T	1322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=268;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.696;SOR=0.57	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1333,0,1022	5	0	1	0
chr8	66664818	66664818	C	A	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.G2141T:p.R714I	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0692960819431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.216e-06	8.893e-06	8.175e-06	8.257e-06	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.799e-06	0	5.806e-05	6.573e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.854	0.60866	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	1.02	0.40749	T	-3.12	0.63782	D	0.863	0.85979	-0.6988	0.60495	T	0.221	0.58421	T	10	0.7825818	0.77978	D	0.069296	0.70689	D	0.326	0.64826	0.354	0.35408	0.426039362998	0.42221	0.4043971821929618	0.40355	2.12007149357	0.94997	0.731780827045	0.71767	T	0.280155	0.65286	T	0.259128	0.79448	D	0.134443	0.79182	D	0.986955583095551	0.77550	D	0.951605	0.81505	D	0.44765878	0.63893	0.4944496	0.70761	0.44765878	0.63894	0.4944496	0.70761	-4.036	0.24341	T	.	.	0.469	0.63152	A	.	.	4.230721	0.64060	24.7	0.97829207487943004	0.36246	0.96322	0.68572	D	AEFDBHCI	0.909541	0.86632	D	0.774294355424997	0.84476	8.298069	0.785139113486422	0.88742	9.697551	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	5.55	5.55	0.83298	7.873000	0.85565	7.737000	0.67919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1297.83	34	chr8	66664818	.	C	A	1297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.622;DP=291;ExcessHet=0;FS=0.706;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=2.88;SOR=0.776	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1308,0,1640	5	0	1	0
chr8	66666951	66666951	T	C	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.A8G:p.Q3R	.	330	1178	14	0	0	14	0.00590717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0007	0.00319489	0.0033	0.0002	0.0017	0.0002	0	0.0017	0.0062	0.0151	0.0015912	246	154602	rs201004658	0.0012	0.0012	0.0010	0.0014	0.0083	0.0011	0.0011	0.0073	0.0071	6.394e-05	0.0007	0.0057	7.637e-05	8.021e-05	0.0083	0.0007	0.0015	0.0078	0.0009	0.0009	0.0008	0.0010	0.0091	0.0008	0.0007	0.0070	0.0062	0.0001	0	0.0005	0.0049	0	0	0.0068	0.0008	0.0014	0.0091	0.0	0.91255	D	0.046	0.49120	D	0.967	0.56408	D	0.901	0.63994	P	0.066068	0.21835	N	0.453010	0.999972	0.53665	D	1.39	0.34934	L	1.52	0.30669	T	-0.11	0.08653	N	0.411	0.45142	-0.9749	0.36148	T	0.129	0.43686	T	10	0.007842988	0.00178	T	.	.	.	0.228	0.52768	.	.	0.423328145879	0.41948	0.2321000444721787	0.23125	0.674172896119	0.59628	0.710390210152	0.68650	T	0.018462	0.14879	T	-0.171264	0.25044	T	-0.0133772	0.69463	D	0.214245093661126	0.21172	T	0.564244	0.19889	T	0.5113944	0.67760	0.5687035	0.75030	0.5113944	0.67761	0.5687035	0.75030	-5.294	0.39884	T	.	.	0.12	0.24767	B	.	.	4.162688	0.62525	24.5	0.93248031259094577	0.22937	0.91812	0.54316	D	ALL	0.660630	0.63113	D	0.611781872294092	0.73917	6.045309	0.65991680021798	0.79352	7.064	0.999999999999945	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	6.03	6.03	0.97798	5.376000	0.65931	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.232	0.82169	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007630	0.000000	0.010929	0.011765	0.000000	0.000000	0.015337	0.003788	0.08333	139.83	20	chr8	66666951	.	T	C	139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.148;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.911;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	5	0	1	0
chr8	68108323	68108323	C	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_024870:exon24:c.C2930T:p.S977L	.	434	1040	45	3	0	51	0.0239324	.	.	.	723175	PREX2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0069	0.00419329	0.0059	0.0017	0.0039	0	0.0014	0.0090	0.0079	0.0025	0.0060931	942	154602	rs61753700	0.0073	0.0073	0.0072	0.0074	0.0320	0.0072	0.0072	0.0282	0.0267	0.0017	0.0057	0.0292	0	0.0007	0.0320	0.0078	0.0083	0.0027	0.0057	0.0057	0.0061	0.0053	0.0093	0.0054	0.0053	0.0080	0.0076	0.0013	0	0.0093	0.0254	0	0.0014	0.0272	0.0078	0.0113	0.0012	0.034	0.44029	D	0.705	0.05622	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.99748	0.22640	N	0	0.06538	N	1.29	0.35775	T	-1.05	0.27463	N	0.122	0.11340	-1.0365	0.18388	T	0.034	0.14726	T	9	0.0042907298	0.00086	T	.	.	.	0.033	0.08068	.	.	0.187945064343	0.18414	0.17599731828383275	0.17518	0.129204883604	0.14567	0.468185156584	0.34431	T	0.052767	0.29254	T	-0.610609	0.00125	T	-0.644747	0.09326	T	0.0118460378374581	0.00184	T	0.506149	0.16021	T	0.043264266	0.06712	0.07784652	0.17381	0.043264266	0.06712	0.07784652	0.17381	-3.919	0.22587	T	0.10005616733180377	0.07338	0.063	0.01449	B	.	.	1.298181	0.17000	12.90	0.99085105092494219	0.52075	0.72002	0.35260	D	AEFBI	0.163207	0.28946	N	-0.661565505330665	0.17123	0.8784968	-0.497489690309836	0.22223	1.205998	0.144898504644221	0.17340	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	2.76	0.31527	0.981000	0.29124	-0.000000	0.13247	-0.806000	0.03109	0.346000	0.25726	0.004000	0.18990	0.699000	0.34110	0.0:0.7417:0.1214:0.1368	9.068	0.35637	97	0.95994	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.030303	0.031250	0.026316	0.000000	0.025862	0.012195	0.007576	0.08333	395.83	42	chr8	68108323	.	C	T	395.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.842;DP=205;ExcessHet=0;FS=3.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.878;SOR=0.2	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1231	5	0	1	0
chr8	72937987	72937987	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2632G:p.S878G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0471189628232	7.7e-05	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs373156197	4.788e-06	4.788e-06	5.445e-06	4.125e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.356	0.12070	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.168479	0.03092	U	1.982250	0.953954	0.26386	N	0.695	0.17993	N	-4.2	0.96934	D	0.07	0.06138	N	0.044	0.01658	-0.0912	0.80300	T	0.751	0.91514	D	10	0.05726239	0.06550	T	0.047119	0.62773	D	0.259	0.57090	.	.	0.579588314073	0.57628	0.0778450964086712	0.07720	0.508890419231	0.49035	0.279488265514	0.07421	T	0.072755	0.34531	T	-0.196818	0.21266	T	-0.283823	0.46410	T	0.0586739292015086	0.06957	T	0.630137	0.24490	T	0.10067281	0.23774	0.10832253	0.26093	0.10067281	0.23773	0.10832253	0.26092	-4.117	0.25540	T	.	.	0.062	0.01348	B	.	.	1.780997	0.22647	15.70	0.94136989775421687	0.24324	0.96711	0.70532	D	AEFBI	0.499379	0.53309	N	-0.338481625165133	0.27699	1.521746	-0.13834610741652	0.33860	1.94138	0.0234718618751767	0.13510	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	4.01	0.45821	3.693000	0.54467	4.157000	0.42186	0.626000	0.51810	0.989000	0.36753	0.988000	0.31051	0.988000	0.63387	0.9266:0.0:0.0734:0.0	10.919	0.46367	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1111.83	88	chr8	72937987	.	A	G	1111.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.051;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-1.119;SOR=0.707	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr8	79765222	79765222	T	C	exonic	HEY1	.	nonsynonymous SNV	HEY1:NM_001282851:exon2:c.A611G:p.Y204C,HEY1:NM_001040708:exon5:c.A893G:p.Y298C,HEY1:NM_012258:exon5:c.A881G:p.Y294C	.	406	1111	5	0	0	5	0.00224517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.0384978591394	7.8e-05	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0004	7.12e-05	11	154602	rs368116797	0.0001	0.0001	9.582e-05	0.0001	0.0012	9.095e-05	8.56e-05	0.0006	0.0004	0	5.591e-05	0	0	0	0.0012	9.08e-05	0.0002	0.0003	0.0001	0.0001	6.422e-05	0.0002	0.0017	7.085e-05	5.742e-05	0.0008	0.0006	7.214e-05	0	6.531e-05	0	0	0	0	7.35e-05	0	0.0017	0.001	0.78490	D	0.012	0.63918	D	1.0	0.90584	D	0.962	0.73820	D	0.000007	0.62929	D	0.112006	0.999999	0.58761	D	2.65	0.77586	M	-0.06	0.63568	T	-4.14	0.75220	D	0.802	0.80767	-0.3818	0.72595	T	0.377	0.73460	T	10	0.39502704	0.55164	T	0.038498	0.58257	D	0.511	0.79033	.	.	0.468253496145	0.46452	0.8408217831765497	0.84042	1.57728761444	0.88332	0.77704834938	0.78483	T	0.820556	0.95608	D	-0.00157192	0.51438	T	0.0761216	0.75318	D	0.276030961730142	0.24004	T	0.954405	0.86445	D	0.4538079	0.64282	0.4942938	0.70752	0.4538079	0.64283	0.4942938	0.70752	-10.542	0.77088	D	.	.	0.420	0.73784	A	.;.;.	.;.;.	4.723550	0.76007	26.4	0.98357096507713704	0.40608	0.80620	0.40210	D	ALL	0.896705	0.83805	D	0.67135035260691	0.77755	6.736281	0.682921084482786	0.81084	7.444421	0.999999999969529	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	5.79	5.79	0.91751	5.891000	0.69523	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.134	0.81282	918	0.19598	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000521	0.000000	0.001425	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	172.83	19	chr8	79765222	.	T	C	172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.88;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=0.492;SOR=0.569	GT:AD:DP:GQ:PL	0/1:19,9:28:99:183,0,544	5	0	1	0
chr8	80486926	80486926	C	T	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.C116T:p.P39L,ZBTB10:NM_023929:exon1:c.C116T:p.P39L	.	.	.	.	.	.	.	.	.	.	.	3627624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.532215882642	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1441486338	1.843e-05	1.984e-05	1.89e-05	1.795e-05	0.0005	1.265e-05	1.069e-05	8.486e-05	3.535e-05	0	9.198e-05	0	3.166e-05	0	0.0005	1.503e-05	3.548e-05	1.318e-05	2.642e-05	2.628e-05	2.58e-05	2.706e-05	0.0001	8.17e-06	5.16e-06	2.267e-05	9.1e-06	0	0	0.0001	0	0	0	0	2.959e-05	0	0	0.0	0.91255	D	0.06	0.45744	T	0.001	0.09854	B	0.0	0.04355	B	.	.	.	.	0.595088	0.81001	D	0	0.06538	N	2.48	0.15608	T	-0.53	0.16393	N	0.126	0.17278	-1.0728	0.08808	T	0.024	0.10103	T	9	0.09013006	0.15674	T	0.532216	0.95605	D	0.058	0.16647	0.145	0.04843	0.043077524339	0.03247	0.15506763189132516	0.15427	0.761718942184	0.64298	0.874441027641	0.93197	D	0.005088	0.04527	T	-0.430848	0.01465	T	-0.703354	0.05645	T	0.169818031345385	0.18568	T	0.766923	0.39491	T	0.13550793	0.31448	0.12727728	0.30640	0.13550793	0.31447	0.12727728	0.30640	-4.276	0.27839	T	.	.	0.184	0.39932	B	.;.;.	.;.;.	3.819786	0.55149	23.6	0.99707882528440883	0.81143	0.38765	0.26062	N	AEFDBHCI	0.050746	0.08899	N	-0.570454759480828	0.19847	1.041927	-0.488682979485022	0.22464	1.220289	0.999999398523324	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.621717	0.48901	0	.	.	2.18	2.18	0.26813	-0.187000	0.09652	4.152000	0.42155	0.397000	0.20528	0.560000	0.27425	1.000000	0.68203	0.830000	0.39126	0.0:0.8423:0.0:0.1577	6.785	0.22850	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	171.83	36	chr8	80486926	.	C	T	171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=157;ExcessHet=0;FS=1.527;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.37;ReadPosRankSum=-1.784;SOR=1.061	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	5	0	1	0
chr8	80665069	80665069	A	G	exonic	ZNF704	.	nonsynonymous SNV	ZNF704:NM_001033723:exon6:c.T673C:p.S225P,ZNF704:NM_001367783:exon6:c.T1195C:p.S399P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0730362992064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.332	0.18449	T	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.063358	1	0.81001	D	1.46	0.36832	L	-1.71	0.83157	D	-1.03	0.27052	N	0.643	0.65501	0.062	0.83474	D	0.602	0.85864	D	10	0.59177226	0.66421	D	0.073036	0.71685	D	0.409	0.72099	0.17	0.07536	0.375737878683	0.37188	0.45239820224102656	0.45157	1.78295362445	0.91415	0.689910054207	0.65693	T	0.13371	0.46454	T	0.229536	0.76678	D	0.0919362	0.76375	D	0.83990629264257	0.49320	D	0.544446	0.18591	T	0.35746488	0.57642	0.24827111	0.50374	0.35746488	0.57643	0.24827111	0.50373	-10.879	0.78990	D	.	.	0.272	0.50636	B	.	.	5.505953	0.91635	32	0.99769210717876655	0.85750	0.99250	0.93443	D	AEFI	0.957925	0.97740	D	0.667807111119018	0.77524	6.691571	0.705630887846811	0.82806	7.859298	0.999999233374523	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.325000	0.96006	11.147000	0.87239	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	16.628	0.84839	848	0.35897	.	.	.	.	.	.	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	977.83	33	chr8	80665069	.	A	G	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.973;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-2.051;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	5	0	1	0
chr8	81671002	81671002	G	A	exonic	IMPA1	.	nonsynonymous SNV	IMPA1:NM_005536:exon7:c.C503T:p.T168I,IMPA1:NM_001144878:exon8:c.C680T:p.T227I	Mental retardation, autosomal recessive 59, Autosomal recessive	439	1072	9	2	0	13	0.00602689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0161915108403	0.0002	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0055	0.0007374	114	154602	rs148950764	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0041	0.0039	7.169e-05	0.0002	0	0	0	0.0048	0.0001	0.0005	0.0045	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.221e-05	0	0.0005	0	0	0	0	0.0003	0.0005	0.0025	0.003	0.68238	D	0.009	0.66756	D	0.088	0.25022	B	0.068	0.27651	B	0.201186	0.16596	N	0.625996	1	0.81001	D	1.165	0.29723	L	0.66	0.52416	T	-1.98	0.51478	N	0.237	0.26717	-1.0029	0.29080	T	0.094	0.35738	T	10	0.011553228	0.00252	T	0.016192	0.37323	T	0.036	0.09122	.	.	0.660644780661	0.65780	0.5545667876305154	0.55383	0.123502751491	0.13904	0.396727532148	0.24614	T	0.400385	0.75798	T	-0.459902	0.00985	T	-0.432578	0.29643	T	0.0409013131765717	0.03854	T	0.89811	0.64401	D	0.33410552	0.55805	0.24734825	0.50263	0.37741506	0.59129	0.23773234	0.49076	-3.084	0.14896	T	.	.	0.229	0.47986	B	.;.;.;.	.;.;.;.	3.005572	0.40175	21.1	0.99238177236615399	0.56437	0.74076	0.36233	D	AEFBI	0.359663	0.44991	N	-0.243995322399795	0.31343	1.756549	-0.166132050605109	0.32791	1.869139	0.170529903057637	0.17729	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.16	2.08	0.26079	1.605000	0.36426	4.939000	0.46195	0.606000	0.46413	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.4757:0.5243	11.306	0.48570	688	0.59122	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.25	1459.03	34	chr8	81671002	.	G	A	1459.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.748;DP=268;ExcessHet=1.383;FS=2.755;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.482;SOR=0.594	GT:AD:DP:GQ:PL	0/1:35,31:66:99:660,0,837	3	0	3	0
chr8	85250939	85250939	T	C	splicing	CA13	NM_198584:exon2:c.235+2T>C	.	.	.	.	.	.	.	.	.	.	0.9999	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	8.649e-05	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767376724	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.8e-06	0	1.16e-05	6.587e-06	6.573e-06	1.287e-05	0	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15527	0.69761	D	-0.014742	0.69375	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.736023	0.76327	26.5	0.97819436882980026	0.36181	0.99381	0.95289	D	AEFI	.	.	.	0.860414606237816	0.89692	10.078	0.653495242298954	0.78872	6.964331	0.999974726514976	0.50053	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.826211	0.49445	5.41	4.26	0.49832	4.785000	0.62110	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0733:0.0:0.9267	10.954	0.46558	782	0.47442	.	.	.	.	.	.	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	1015.83	33	chr8	85250939	.	T	C	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.728;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.978;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1447	5	0	1	0
chr8	85332503	85332503	G	A	exonic	CA1	.	nonsynonymous SNV	CA1:NM_001291968:exon4:c.C161T:p.A54V,CA1:NM_001164830:exon5:c.C500T:p.A167V,CA1:NM_001291967:exon5:c.C302T:p.A101V,CA1:NM_001128831:exon6:c.C500T:p.A167V,CA1:NM_001128829:exon7:c.C500T:p.A167V,CA1:NM_001128830:exon7:c.C500T:p.A167V,CA1:NM_001738:exon7:c.C500T:p.A167V	.	424	1000	93	5	0	103	0.0489777	.	.	.	711647	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0069	0.00738818	0.0091	0.0008	0.0062	0	0.0053	0.0120	0.0188	0.0101	0.0090684	1402	154602	rs61734485	0.0083	0.0083	0.0078	0.0088	0.0480	0.0082	0.0081	0.0433	0.0415	0.0022	0.0072	0.0352	2.527e-05	0.0063	0.0480	0.0077	0.0106	0.0110	0.0071	0.0070	0.0072	0.0069	0.0091	0.0067	0.0066	0.0083	0.0081	0.0015	0.0220	0.0084	0.0329	0	0.0061	0.0272	0.0089	0.0142	0.0091	0.041	0.44694	D	0.499	0.17910	T	0.45	0.36066	B	0.144	0.33818	B	0.263341	0.15271	N	0.669489	0.999997	0.25329	N	2.745	0.80253	M	-0.28	0.67543	T	-1.62	0.44657	N	0.176	0.18920	-0.8815	0.49642	T	0.091	0.34874	T	10	0.007727623	0.00175	T	.	.	.	0.145	0.38592	.	.	0.73447084507	0.73210	0.3681289320262565	0.36726	0.0410110934837	0.04401	0.281334668398	0.07679	T	0.068996	0.33598	T	-0.399058	0.02348	T	-0.333671	0.41060	T	0.00874550681318089	0.00108	T	0.833317	0.56350	T	0.26060283	0.49116	0.24295774	0.49728	0.34881502	0.56974	0.24295774	0.49727	-6.553	0.50694	T	0.2323406808646329	0.31446	0.124	0.26010	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.317641	0.17215	13.03	0.96525085045259451	0.30129	0.48464	0.28213	N	AEFI	0.261359	0.37932	N	-0.341041418075239	0.27603	1.515762	-0.427219303761543	0.24202	1.324005	4.52593591734053E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.39	0.21325	1.381000	0.33969	1.567000	0.27393	0.618000	0.50648	0.049000	0.21372	0.004000	0.18990	0.546000	0.30079	0.0946:0.1684:0.3902:0.3467	2.502	0.04354	806	0.43582	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	C8orf59|C8orf59|C8orf59	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial	rs61734485	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.044814	0.025253	0.054348	0.061404	0.000000	0.043103	0.033537	0.034091	0.08333	544.83	35	chr8	85332503	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.133;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.07;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	5	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.000000	0.010870	0.032164	0.000000	0.017241	0.027439	0.022727	0.08333	1075.83	89	chr8	86064021	.	T	G	1075.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.434;DP=268;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.562;SOR=0.475	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	5	0	1	0
chr8	86474312	86474314	TTC	-	exonic	RMDN1	.	nonframeshift deletion	RMDN1:NM_001286707:exon9:c.810_812del:p.K270del,RMDN1:NM_001286719:exon9:c.849_851del:p.K283del,RMDN1:NM_016033:exon10:c.939_941del:p.K313del	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0376	0.00199681	0.0038	0.0004	0.0036	0.0001	0.0029	0.0049	0.0033	0.0043	0.0007684	20	26028	rs529480556	0.0047	0.0047	0.0046	0.0047	0.0052	0.0046	0.0045	0.0051	0.0050	0.0005	0.0040	0.0005	0	0.0031	0.0019	0.0052	0.0038	0.0051	0.0031	0.0031	0.0032	0.0031	0.0051	0.0029	0.0028	0.0046	0.0044	0.0008	0	0.0041	0.0009	0.0002	0.0014	0	0.0051	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1416.79	34	chr8	86474311	.	ATTC	A	1416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.698;DP=241;ExcessHet=0;FS=2.113;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.14;ReadPosRankSum=-0.646;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1066	5	0	1	0
chr8	93734469	93734469	-	T	exonic	RBM12B	.	frameshift insertion	RBM12B:NM_001377964:exon2:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377962:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377963:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_203390:exon3:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377960:exon4:c.1941_1942insA:p.E648Rfs*9,RBM12B:NM_001377961:exon5:c.1941_1942insA:p.E648Rfs*9	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.529e-05	0	0.0008	9.7e-05	15	154602	rs765756035	3.714e-05	3.7e-05	2.6e-05	4.839e-05	0.0005	2.909e-05	2.606e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.71e-06	3.332e-05	0.0005	0	1.317e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	901.79	33	chr8	93734469	.	C	CT	901.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=232;ExcessHet=0;FS=3.634;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.18;ReadPosRankSum=-0.461;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1334:.	5	0	1	0
chr8	93734470	93734470	-	GGAGCTGCCTGAAGTCCTCCTCT	exonic	RBM12B	.	frameshift insertion	RBM12B:NM_001377964:exon2:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377962:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377963:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_203390:exon3:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377960:exon4:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14,RBM12B:NM_001377961:exon5:c.1940_1941insAGAGGAGGACTTCAGGCAGCTCC:p.P654Lfs*14	.	435	448	441	196	2	835	0.481781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	1.521e-05	0	0.0008	3.84e-05	1	26028	rs753234790	3.695e-05	3.695e-05	2.587e-05	4.815e-05	0.0005	2.895e-05	2.593e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.699e-06	3.313e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4484.79	33	chr8	93734470	.	G	GGGAGCTGCCTGAAGTCCTCCTCT	4484.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=257;ExcessHet=2.3007;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-0.44;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:45:99:.:.:1513,1513,1513:.	5	0	1	0
chr8	94940181	94940186	TCTTCT	-	exonic	TP53INP1	.	nonframeshift deletion	TP53INP1:NM_001135733:exon3:c.147_152del:p.E51_E52del,TP53INP1:NM_033285:exon3:c.147_152del:p.E51_E52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.572e-05	0.0001	0	0	0	3.08e-05	0	0	1.94e-05	3	154602	rs767017254	1.51e-05	2.531e-05	1.502e-05	1.517e-05	0.0009	9.88e-06	8.44e-06	0.0003	0.0002	0	0	0	2.521e-05	0	0.0009	1.173e-05	1.662e-05	2.324e-05	1.973e-05	1.971e-05	0	4.041e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	555.79	37	chr8	94940180	.	CTCTTCT	C	555.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-2.283;SOR=0.874	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1168	5	0	1	0
chr8	98033116	98033116	T	C	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon16:c.T2533C:p.F845L,MATN2:NM_002380:exon17:c.T2656C:p.F886L,MATN2:NM_030583:exon17:c.T2599C:p.F867L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0075	0.0091853	0.0030	0.0326	0.0013	0	0	0.0001	0	0.0001	0.0024191	374	154602	rs149724220	0.0007	0.0007	0.0008	0.0006	0.0249	0.0007	0.0007	0.0235	0.0230	0.0249	0.0013	0	0	0	0.0026	4.411e-05	0.0013	0.0001	0.0075	0.0076	0.0078	0.0073	0.0260	0.0072	0.0070	0.0247	0.0241	0.0260	0	0.0023	0	0	0	0.0068	0.0002	0.0090	0	0.16	0.57480	T	0.209	0.65728	T	0.663	0.64070	P	0.159	0.53321	B	0.000004	0.62929	D	0.000000	0.946521	0.41983	D	1.1	0.28011	L	-1.51	0.81478	D	-0.75	0.24676	N	0.63	0.81360	-1.0394	0.17495	T	0.065	0.26913	T	10	0.008822709	0.00200	T	.	.	.	0.370	0.68930	0.257	0.19845	0.869680927452	0.86841	0.4494858763306572	0.44866	0.499162885821	0.48370	0.637112677097	0.58154	T	0.040174	0.25439	T	-0.258816	0.13039	T	-0.123598	0.61505	T	0.0196699237022804	0.00670	T	0.89801	0.64352	D	0.14079723	0.32469	0.15573633	0.36493	0.14079723	0.32469	0.15573633	0.36492	-2.315	0.04638	T	.	.	0.778	0.80123	P	.;.;.;.;.	.;.;.;.;.	4.514317	0.70726	25.6	0.99846524486928834	0.92663	0.93624	0.58728	D	AEFGBI	0.777784	0.71048	D	0.163906528454077	0.49473	3.147232	0.260175364402481	0.53229	3.493012	0.999999258258362	0.74766	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.76	4.59	0.56297	4.903000	0.62964	7.909000	0.73932	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.138:0.0:0.0:0.862	11.075	0.47246	836	0.38045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	594.83	52	chr8	98033116	.	T	C	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.695;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	5	0	1	0
chr8	100062621	100062621	G	A	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon7:c.C941T:p.S314F,RGS22:NM_001286692:exon9:c.C1448T:p.S483F,RGS22:NM_015668:exon9:c.C1484T:p.S495F	.	483	1032	6	1	0	8	0.003861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0587215122403	.	0.00179712	0.0014	0	8.887e-05	0	0	4.59e-05	0	0.0096	0.0011384	176	154602	rs529511396	0.0006	0.0006	0.0003	0.0009	0.0090	0.0005	0.0005	0.0085	0.0082	0	4.572e-05	0	0	0	0.0016	3.166e-05	0.0004	0.0090	0.0004	0.0004	0.0003	0.0005	0.0112	0.0003	0.0003	0.0088	0.0080	2.407e-05	0	0	0	0	0	0	1.471e-05	0	0.0112	0.139	0.25768	T	0.066	0.44501	T	0.479	0.36725	P	0.048	0.24975	B	0.004186	0.01010	N	2.597870	1	0.08975	N	1.245	0.31408	L	-0.08	0.63911	T	-1.77	0.42575	N	0.263	0.31365	-1.0101	0.26886	T	0.107	0.39027	T	10	0.0059093833	0.00132	T	0.058722	0.67417	D	0.089	0.25827	.	.	0.589041309526	0.58578	0.14192842626022797	0.14115	0.0819930394997	0.09240	0.271501690149	0.06338	T	0.008123	0.21325	T	-0.514242	0.00475	T	-0.505617	0.21765	T	0.0233400289596884	0.01064	T	0.593441	0.22486	T	0.06867097	0.14979	0.06928477	0.14578	0.06867097	0.14979	0.06928477	0.14577	-8.74	0.66008	D	.	.	0.119	0.39596	B	.;.;.;.	.;.;.;.	2.368170	0.30382	18.42	0.83613710399087682	0.14823	0.45469	0.27545	N	AEFGBI	0.099228	0.19978	N	-0.943552188207871	0.09838	0.4674005	-0.982841641753276	0.10171	0.510555	0.729618732244386	0.23028	0.497415	0.19182	0	0.475579	0.06741	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	-4.9	0.02866	0.893000	0.27970	0.527000	0.19215	-0.106000	0.15538	0.933000	0.32380	0.019000	0.20708	0.900000	0.43643	0.2411:0.394:0.2644:0.1005	3.355	0.06748	0	0.99858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.08333	779.83	34	chr8	100062621	.	G	A	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=263;ExcessHet=0;FS=4.486;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=2.13;SOR=1.272	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	5	0	1	0
chr8	100063762	100063762	C	T	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon6:c.G463A:p.V155I,RGS22:NM_001286692:exon8:c.G970A:p.V324I,RGS22:NM_015668:exon8:c.G1006A:p.V336I	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00902388936096	.	.	5.807e-05	0	0.0003	0	0	3.001e-05	0	6.058e-05	7.12e-05	11	154602	rs763021411	6.704e-05	6.704e-05	6.671e-05	6.738e-05	0.0003	5.629e-05	5.172e-05	0.0001	7.818e-05	8.961e-05	0.0002	0	0	0	0.0003	6.925e-05	8.281e-05	2.319e-05	5.251e-05	5.249e-05	2.569e-05	8.054e-05	0.0002	2.555e-05	1.828e-05	5.28e-05	2.833e-05	0	0	0.0002	0	0	0	0	5.88e-05	0.0005	0	0.461	0.09209	T	0.599	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.130890	0.02807	N	1.693580	1	0.08975	N	-0.69	0.01958	N	1.56	0.29602	T	0.22	0.05217	N	0.035	0.01498	-1.0819	0.06984	T	0.026	0.11176	T	10	0.037082464	0.02041	T	0.009024	0.23750	T	0.027	0.05988	.	.	0.318828661733	0.31499	0.057391571074801424	0.05680	0.0460706449521	0.05005	0.238987907767	0.02700	T	0.001567	0.05804	T	-0.622805	0.00106	T	-0.838906	0.01115	T	0.0417756964561273	0.04013	T	0.611839	0.23263	T	0.020680659	0.00636	0.020581933	0.00143	0.020680659	0.00636	0.020581933	0.00143	-3.653	0.18671	T	.	.	0.071	0.04198	B	.;.;.;.	.;.;.;.	-1.340154	0.00405	0.008	0.29228266280589732	0.01540	0.02138	0.06301	N	AEFI	0.050534	0.08842	N	-1.82247438572251	0.00492	0.02119611	-1.91527583643763	0.00457	0.02020907	0.999371465217372	0.39355	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	-11.7	0.00035	-2.149000	0.01377	-1.075000	0.06408	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0855:0.2819:0.4279:0.2047	5.886	0.18131	0	0.99858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1114.83	82	chr8	100063762	.	C	T	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.495;DP=254;ExcessHet=0;FS=5.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.306;SOR=1.018	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	5	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1512.01	35	chr8	102560795	.	AGCCCCTGC	*	1512.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.189;DP=356;ExcessHet=0.4139;FS=1.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.018;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	5	0	1	0
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1430.01	35	chr8	102560804	.	AACCCGTGCAG	*	1430.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.363;DP=355;ExcessHet=0.4139;FS=1.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=0.389;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	5	0	1	0
chr8	103331493	103331493	G	A	exonic	FZD6	.	nonsynonymous SNV	FZD6:NM_001317796:exon6:c.G1190A:p.C397Y,FZD6:NM_001164615:exon7:c.G2105A:p.C702Y,FZD6:NM_003506:exon7:c.G2105A:p.C702Y,FZD6:NM_001164616:exon8:c.G2009A:p.C670Y	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0151059252239	.	.	8.327e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs757112285	6.857e-07	2.052e-06	1.365e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31383	T	0.114	0.37449	T	0.001	0.07471	B	0.004	0.10090	B	0.000069	0.00414	N	3.375160	1	0.08975	N	0.345	0.11182	N	-0.91	0.75438	T	-0.33	0.12472	N	0.057	0.03502	-0.8996	0.48034	T	0.199	0.55471	T	10	0.039586216	0.02459	T	0.015106	0.35650	T	0.181	0.45247	0.095	0.01241	0.662413160851	0.65958	0.13658497569674066	0.13582	0.42995996695	0.43261	0.35824662447	0.19130	T	0.162056	0.50656	T	-0.146699	0.28831	T	-0.448499	0.27864	T	0.0443216599524021	0.04479	T	0.69513	0.30474	T	0.07854354	0.17891	0.10500566	0.25233	0.07854354	0.17891	0.10500566	0.25233	-3.83	0.21898	T	.	.	0.064	0.02829	B	.;.;.	.;.;.	1.688635	0.21515	15.23	0.72645755593408601	0.10046	0.01444	0.04845	N	AEFDBI	0.028254	0.02456	N	-0.804404353716185	0.13197	0.6484671	-0.739618845047526	0.15978	0.8430131	0.0995402079415605	0.16333	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	1.99	0.25423	0.786000	0.26505	.	.	0.676000	0.76740	0.009000	0.18154	0.103000	0.22699	0.970000	0.54328	0.5323:0.0:0.4677:0.0	5.002	0.13615	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	747.83	34	chr8	103331493	.	G	A	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=247;ExcessHet=0;FS=5.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.573;SOR=1.395	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	5	0	1	0
chr8	104349544	104349544	T	C	exonic	DCSTAMP	.	nonsynonymous SNV	DCSTAMP:NM_030788:exon2:c.T992C:p.L331S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.039645112506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000055	0.53742	D	0.078542	0.999895	0.81001	D	3.1	0.87590	M	1.43	0.32958	T	-0.33	0.12472	N	0.609	0.62611	-0.9041	0.47550	T	0.160	0.49363	T	10	0.7226913	0.73768	D	0.039645	0.58928	D	0.226	0.52472	0.621	0.75576	0.547638893815	0.54419	0.6672444212368851	0.66662	0.49271540764	0.47905	0.384348213673	0.22871	T	0.079697	0.36190	T	-0.00482832	0.50985	T	-0.244712	0.50336	T	0.962053835391998	0.66257	D	0.630437	0.24556	T	0.39071104	0.60082	0.36801386	0.62100	0.39071104	0.60083	0.36801386	0.62100	-4.618	0.32397	T	.	.	0.415	0.60399	A	.	.	4.341443	0.66608	25.0	0.99870185147623669	0.94815	0.96968	0.71932	D	AEFDBHCI	0.749239	0.69074	D	0.554055412654427	0.70329	5.485642	0.553837835022632	0.71664	5.68953	0.983487126546018	0.30567	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	3.357000	0.51997	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	14.179	0.65098	531	0.73574	Dendritic cell-specific transmembrane protein-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	.	.	.	.	.	.	.	.	0.08333	513.83	40	chr8	104349544	.	T	C	513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.478;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.286;SOR=0.861	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	5	0	1	0
chr8	105802166	105802166	C	T	exonic	ZFPM2	.	nonsynonymous SNV	ZFPM2:NM_001362836:exon7:c.C1925T:p.T642I,ZFPM2:NM_001362837:exon8:c.C1688T:p.T563I,ZFPM2:NM_012082:exon8:c.C2084T:p.T695I	Diaphragmatic hernia 3;Tetralogy of Fallot, Autosomal dominant;46XY sex reversal 9, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	2675402	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.023903429405	.	.	8.324e-05	0	0.0002	0	0	1.505e-05	0	0.0004	6.47e-05	10	154602	rs757616386	5.679e-05	5.678e-05	2.723e-05	8.665e-05	0.0008	4.677e-05	4.302e-05	0.0007	0.0006	0	0	0	0	0	0.0005	2.698e-06	6.625e-05	0.0008	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.096	0.43085	T	0.042	0.51421	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.32	0.66415	M	1.34	0.34841	T	-2.48	0.54059	N	0.797	0.89577	-0.7503	0.57919	T	0.202	0.55836	T	10	0.44877598	0.58565	T	0.023903	0.46878	T	0.284	0.60219	0.374	0.38667	0.542495532069	0.53903	0.5806165859495843	0.57990	0.520921126819	0.49874	0.895971179008	0.95981	D	0.494172	0.81742	T	-0.0453251	0.45156	T	0.0693814	0.74867	D	0.258131721067725	0.23233	T	0.90311	0.66064	D	0.2786056	0.50913	0.22689068	0.47681	0.2786056	0.50913	0.22689068	0.47680	-10.578	0.77294	D	.	.	0.609	0.85176	P	.;.;.	.;.;.	4.556267	0.71761	25.7	0.99849752482150778	0.92925	0.94824	0.62456	D	AEFBCI	0.804423	0.72929	D	0.631061749827587	0.75147	6.255048	0.615277302915503	0.76047	6.419927	0.999381367229861	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.72	4.83	0.61880	6.049000	0.70682	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1367:0.8633:0.0:0.0	15.865	0.78838	812	0.42537	Zinc finger CCHC FOG-type|Zinc finger C2H2-type;Zinc finger CCHC FOG-type|Zinc finger C2H2-type;Zinc finger CCHC FOG-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	2188.83	33	chr8	105802166	.	C	T	2188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.452;DP=386;ExcessHet=0;FS=4.821;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.527;SOR=0.452	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1443	5	0	1	0
chr8	107322046	107322046	G	C	exonic	ANGPT1	.	nonsynonymous SNV	ANGPT1:NM_001314051:exon3:c.C58G:p.Q20E,ANGPT1:NM_001146:exon4:c.C658G:p.Q220E,ANGPT1:NM_001199859:exon4:c.C658G:p.Q220E	.	.	.	.	.	.	.	.	.	.	.	1357128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0171720266397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.36912	T	0.24	0.26145	T	0.085	0.39964	B	0.033	0.34249	B	0.000002	0.62929	D	0.103838	1	0.81001	D	1.98	0.53716	M	1.04	0.52642	T	-1.93	0.44852	N	0.618	0.65416	-1.0103	0.26823	T	0.103	0.37994	T	10	0.49685463	0.61317	T	0.017172	0.38759	T	0.162	0.41843	0.287	0.24601	0.69697033627	0.69435	.	.	0.213971234726	0.23928	0.434200078249	0.29784	T	0.466	0.80110	T	-0.00609326	0.50812	T	-0.246529	0.50159	T	0.771904289722443	0.44554	D	0.884811	0.60904	D	0.24124803	0.47037	0.26114723	0.51888	0.24124803	0.47037	0.26114723	0.51887	-7.667	0.59216	D	.	.	0.091	0.14842	B	.;.;.;.	.;.;.;.	3.315292	0.45575	22.2	0.97785415582707558	0.35963	0.99356	0.94951	D	AEFBI	0.940296	0.94205	D	0.131910861863719	0.47955	3.014226	0.310656076752987	0.56165	3.779519	0.999999999999538	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	9.264000	0.94788	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.066	0.93091	876	0.30350	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	892.83	77	chr8	107322046	.	G	C	892.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.493;DP=258;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.159;SOR=0.47	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	5	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	.	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	614.83	33	chr8	109452281	.	G	A	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=217;ExcessHet=0;FS=9.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.263;SOR=2.147	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	5	0	1	0
chr8	109454805	109454805	A	G	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon45:c.A6827G:p.Y2276C	.	435	1086	1	0	0	1	0.000460193	.	.	.	3460505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.877	0.0471301102648	.	.	1.66e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs761128271	1.095e-05	1.094e-05	1.498e-05	6.877e-06	4.473e-05	6.48e-06	5.25e-06	7.41e-06	5.03e-06	2.987e-05	4.473e-05	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.998181	0.44603	D	3.595	0.93690	H	-2.53	0.89430	D	-8.04	0.96594	D	0.959	0.96871	0.887	0.95501	D	0.844	0.94798	D	10	0.89361715	0.88710	D	0.04713	0.62778	D	0.877	0.96354	0.608	0.74063	0.421060224861	0.41726	0.8154547802882404	0.81501	0.252784853795	0.27842	0.783619105816	0.79474	T	0.594205	0.86900	D	0.324467	0.84785	D	0.404145	0.92247	D	0.99383956193924	0.84805	D	0.950205	0.80929	D	0.9035254	0.91701	0.92608064	0.96822	0.9035254	0.91702	0.92608064	0.96823	-12.721	0.88180	D	.	.	0.687	0.72413	P	.	.	4.858096	0.79476	27.1	0.99815917465838266	0.89885	0.96786	0.70931	D	AEFI	0.914848	0.87880	D	0.897101883769352	0.91616	10.97483	0.845920085612052	0.92776	11.62476	0.999998748545906	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.609000	0.82142	11.209000	0.89330	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.149	0.64902	685	0.59416	G8 domain|G8 domain|G8 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	.	.	.	.	.	.	.	.	0.08333	1872.83	34	chr8	109454805	.	A	G	1872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.039;DP=298;ExcessHet=0;FS=1.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.05;SOR=0.893	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1448	5	0	1	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I,CSMD3:NM_052900:exon58:c.A9116T:p.N3039I,CSMD3:NM_198123:exon60:c.A9623T:p.N3208I,CSMD3:NM_198124:exon61:c.A9503T:p.N3168I	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025706	0.010101	0.035326	0.023392	0.000000	0.034483	0.021472	0.011364	0.08333	1002.83	33	chr8	112265476	.	T	A	1002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.86;DP=245;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-2.696;SOR=0.936	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1299	5	0	1	0
chr8	112304740	112304740	A	C	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon48:c.T7647G:p.N2549K,CSMD3:NM_198123:exon52:c.T8247G:p.N2749K,CSMD3:NM_198124:exon53:c.T8127G:p.N2709K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00831139853163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774021816	6.159e-06	6.156e-06	2.724e-06	9.629e-06	8.097e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.097e-06	0	0	1.971e-05	1.97e-05	3.854e-05	0	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.941e-05	0	0	0.076	0.34269	T	0.026	0.55759	D	0.845	0.77913	P	0.545	0.75793	P	0.000062	0.52346	D	0.072784	0.994391	0.81001	D	1.6	0.40776	L	1.86	0.24285	T	-2.24	0.50502	N	0.613	0.68950	-0.9892	0.32803	T	0.102	0.37568	T	10	0.3669994	0.53180	T	0.008311	0.22004	T	0.146	0.38789	0.604	0.73586	0.468098961252	0.46438	0.40845545096516084	0.40761	0.685167646302	0.60274	0.642451524734	0.58913	T	0.038365	0.24814	T	-0.177559	0.24101	T	-0.492827	0.23094	T	0.956132352352142	0.64681	D	0.894511	0.63379	D	0.15249753	0.34614	0.18951379	0.42303	0.15249753	0.34613	0.18951379	0.42302	-7.845	0.60009	D	.	.	0.167	0.36732	B	.;.;.	.;.;.	3.934099	0.57522	23.9	0.99688327689939038	0.79775	0.89640	0.50234	D	AEFGI	0.478373	0.52096	N	0.281617941011346	0.55216	3.685891	0.308717650964008	0.56050	3.768053	0.00327197341316168	0.10029	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.279000	0.43094	4.032000	0.41347	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9211:0.0:0.0789:0.0	9.595	0.38735	848	0.35897	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	771.83	34	chr8	112304740	.	A	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.089;DP=226;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.959;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	5	0	1	0
chr8	116938319	116938319	C	G	exonic	AARD	.	nonsynonymous SNV	AARD:NM_001025357:exon1:c.C76G:p.L26V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0430937671105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248669595	2.054e-06	2.052e-06	1.363e-06	2.753e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.046	0.49120	D	0.994	0.66517	D	0.841	0.60228	P	0.003083	0.35449	N	0.000000	1	0.08975	N	0.805	0.20218	L	1.24	0.36691	T	-1.61	0.38734	N	0.306	0.34552	-1.0788	0.07582	T	0.094	0.35711	T	10	0.19382668	0.35168	T	0.043094	0.60807	D	0.170	0.43303	0.23	0.15705	0.162503812791	0.15892	0.031445551271447936	0.03093	0.955501152494	0.72796	0.406776368618	0.26010	T	0.013114	0.11404	T	-0.107063	0.35253	T	-0.391565	0.34367	T	0.306455002691576	0.25268	T	0.456654	0.13107	T	0.17311035	0.38040	0.15863143	0.37035	0.17311035	0.38040	0.15863143	0.37035	-3.96	0.23203	T	.	.	0.121	0.25100	B	.	.	2.158264	0.27497	17.48	0.992518307502259	0.56891	0.14826	0.18605	N	ALL	0.044765	0.07242	N	-0.305269036755223	0.28947	1.600998	-0.505266615042067	0.22009	1.193396	0.999999999907316	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.47417	0.07244	0	0.56751	0.32155	0	.	.	3.36	2.48	0.29194	1.726000	0.37706	-0.012000	0.13046	0.530000	0.24713	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.0:0.864:0.0:0.136	6.552	0.21638	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	532.83	36	chr8	116938319	.	C	G	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.65;DP=246;ExcessHet=0;FS=0.984;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=2.7;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	5	0	1	0
chr8	120289648	120289648	T	C	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon34:c.T4118C:p.I1373T,COL14A1:NM_021110:exon34:c.T4118C:p.I1373T	.	9	1469	42	2	0	46	0.0154155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0027	0.00459265	0.0048	0.0007	0.0016	0	0.0005	0.0038	0.0033	0.0182	0.0044372	686	154602	rs61754507	0.0041	0.0041	0.0036	0.0047	0.0185	0.0041	0.0040	0.0177	0.0174	0.0006	0.0017	0.0091	0	0.0009	0.0092	0.0033	0.0051	0.0185	0.0026	0.0026	0.0023	0.0028	0.0209	0.0024	0.0023	0.0176	0.0164	0.0008	0	0.0024	0.0052	0	0.0002	0	0.0028	0.0028	0.0209	0.001	0.78490	D	0.007	0.69154	D	0.181	0.29111	B	0.036	0.22909	B	0.010610	0.29855	N	0.374219	0.915011	0.36514	D	2.475	0.71894	M	4.32	0.02387	T	-3.61	0.69477	D	0.773	0.77039	-1.0479	0.14988	T	0.015	0.06234	T	10	0.0121225715	0.00262	T	.	.	.	0.194	0.47447	.	.	0.479818277033	0.47611	0.6657480468610676	0.66511	0.303603615688	0.32679	0.434954255819	0.29886	T	0.585014	0.86469	D	-0.469243	0.00859	T	-0.432532	0.29648	T	0.10416299502868	0.12808	T	0.957904	0.84742	D	0.48062095	0.65938	0.42359492	0.66225	0.48062095	0.65938	0.42359492	0.66226	-9.71	0.72157	D	.	.	0.238	0.47195	B	.;.;.	.;.;.	3.680034	0.52381	23.2	0.99485900347351819	0.67180	0.97838	0.77507	D	AEFGBI	0.910121	0.86763	D	0.184864008024977	0.50472	3.236911	0.31834502951146	0.56616	3.825359	0.999996673597258	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.436000	0.79570	7.890000	0.72998	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	0.0:0.0:0.0:1.0	16.405	0.83500	658	0.62094	.;Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.002924	0.000000	0.017241	0.006098	0.015152	0.08333	694.83	34	chr8	120289648	.	T	C	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.337;DP=258;ExcessHet=0;FS=1.892;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-1.147;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1174	5	0	1	0
chr8	120490555	120490555	T	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.T1432G:p.L478V	.	434	1076	12	0	0	12	0.00554529	.	.	.	2828481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0015	0.00399361	0.0027	0.0003	0.0007	0	0.0015	0.0023	0.0056	0.0089	0.002542	393	154602	rs148151530	0.0021	0.0021	0.0019	0.0022	0.0081	0.0020	0.0020	0.0076	0.0074	0.0002	0.0006	0.0047	5.106e-05	0.0023	0.0012	0.0017	0.0021	0.0081	0.0014	0.0014	0.0012	0.0016	0.0075	0.0013	0.0012	0.0055	0.0049	0.0002	0	0.0017	0.0052	0.0002	0.0020	0	0.0015	0.0014	0.0075	0.159	0.23813	T	0.24	0.24406	T	0.054	0.22658	B	0.016	0.17743	B	0.012499	0.29156	N	0.323169	0.99794	0.44345	D	1.545	0.39105	L	.	.	.	-1.78	0.42001	N	0.24	0.27077	-1.0529	0.13601	T	0.088	0.34105	T	9	0.006462723	0.00146	T	.	.	.	0.019	0.03383	.	.	0.250579442822	0.24687	0.4763601740251134	0.47556	0.174194465544	0.19610	0.366567730904	0.20338	T	0.19557	0.55169	T	-0.460437	0.00977	T	-0.428753	0.30077	T	0.00645529215309807	0.00072	T	0.719228	0.33234	T	0.11241137	0.26557	0.10191243	0.24411	0.11241137	0.26557	0.10191243	0.24411	-4.215	0.26968	T	.	.	0.101	0.17657	B	.	.	2.125185	0.27051	17.33	0.97078150097488014	0.32268	0.84831	0.43922	D	AEFDBI	0.223015	0.34742	N	-0.317623983300179	0.28477	1.571127	-0.169863050127608	0.32651	1.85977	0.162222999246146	0.17610	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	3.49	0.39065	2.075000	0.41163	0.862000	0.22237	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.877000	0.41881	0.0:0.0681:0.2702:0.6617	7.507	0.26720	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.08333	512.83	34	chr8	120490555	.	T	G	512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.484;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.502;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	5	0	1	0
chr8	120510028	120510028	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon17:c.G1978A:p.E660K	.	428	1093	1	0	0	1	0.000457247	0.9806	0.696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0179598390113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07e-06	3.421e-06	1.374e-06	2.772e-06	1.175e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	1.175e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	.	.	.	-3.07	0.63207	D	0.887	0.88577	-0.0235	0.81766	T	0.518	0.81995	D	9	0.9411557	0.93441	D	0.01796	0.39858	T	0.570	0.82516	0.838	0.94479	0.725936817495	0.72351	0.7280181308338061	0.72745	0.632153404959	0.57156	0.741351485252	0.73172	T	0.606423	0.87462	D	0.447906	0.92387	D	0.40561	0.92293	D	0.988552808761597	0.78871	D	0.935106	0.75644	D	0.7175712	0.79026	0.49818888	0.70985	0.7175712	0.79028	0.49818888	0.70985	-3.23	0.12851	T	.	.	0.477	0.63500	A	.	.	5.696218	0.93088	33	0.99898195821598712	0.97048	0.98798	0.86991	D	AEFI	0.884896	0.81495	D	0.931866818227949	0.93232	11.90467	0.928644507638938	0.96704	15.03473	0.999999999912543	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	8.442000	0.90177	11.627000	0.93669	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	702	0.57624	MDN2-binding protein, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	635.83	33	chr8	120510028	.	G	A	635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.926;DP=227;ExcessHet=0;FS=9.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-2.024;SOR=0.673	GT:AD:DP:GQ:PL	0/1:28,28:56:99:646,0,682	5	0	1	0
chr8	120517852	120517852	C	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon19:c.C2248T:p.L750F	.	434	1060	27	1	0	29	0.0134946	0.0213	0.172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0082	0.00539137	0.0081	0.0022	0.0048	0.0001	0.0020	0.0094	0.0067	0.0150	0.0079624	1231	154602	rs61753798	0.0097	0.0099	0.0096	0.0099	0.0132	0.0096	0.0096	0.0126	0.0123	0.0017	0.0057	0.0032	5.046e-05	0.0025	0.0092	0.0108	0.0081	0.0132	0.0068	0.0068	0.0068	0.0068	0.0114	0.0065	0.0063	0.0103	0.0101	0.0019	0	0.0064	0.0032	0.0002	0.0024	0.0136	0.0110	0.0081	0.0114	0.107	0.29554	T	0.13	0.34716	T	0.36	0.33860	B	0.139	0.33484	B	0.000226	0.47286	N	0.144353	0.999576	0.47641	D	2.545	0.74286	M	.	.	.	-1.96	0.45404	N	0.142	0.14196	-0.9822	0.34491	T	0.106	0.38611	T	9	0.0057896674	0.00129	T	.	.	.	0.036	0.09122	.	.	0.640041731404	0.63707	0.2528034314553507	0.25194	0.201326276818	0.22533	0.379101604223	0.22130	T	0.219499	0.58253	T	-0.528778	0.00390	T	-0.518704	0.20425	T	0.015199612315482	0.00333	T	0.785621	0.42343	T	0.08627172	0.20047	0.104997456	0.25231	0.08627172	0.20047	0.104997456	0.25230	-4.534	0.31330	T	.	.	0.094	0.14293	B	.	.	2.493602	0.32177	18.96	0.99774697825411618	0.86260	0.80009	0.39764	D	AEFBI	0.156271	0.28160	N	-0.148636852762372	0.35292	2.025314	-0.0770798766117348	0.36340	2.113589	0.00706565440859107	0.11376	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	2.7	0.31007	0.684000	0.25043	0.812000	0.21762	0.599000	0.40250	0.972000	0.34453	0.879000	0.27682	0.837000	0.39485	0.1233:0.6823:0.0:0.1944	7.558	0.27000	686	0.59327	MDN2-binding protein, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.005848	0.000000	0.000000	0.006098	0.015152	0.08333	889.83	52	chr8	120517852	.	C	T	889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.697;DP=299;ExcessHet=0;FS=3.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-2.065;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,36:64:99:0|1:120517821_C_T:900,0,702:120517821	5	0	1	0
chr8	120693819	120693819	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon2:c.C661T:p.R221W	.	431	1090	1	0	0	1	0.000458505	.	.	.	2210921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0519646472568	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373190531	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.159e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	4.967e-05	1.159e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	6.535e-05	8.14e-06	5.14e-06	.	.	0	0	6.535e-05	0	0	0	0.0068	1.47e-05	0	0	0.019	0.50132	D	0.03	0.54159	D	1.0	0.90584	D	0.937	0.67262	D	0.000030	0.55875	D	0.163403	0.999999	0.58761	D	2.47	0.71715	M	0.48	0.55945	T	-2.98	0.62008	D	0.561	0.58798	-0.5569	0.66522	T	0.283	0.65527	T	10	0.72011614	0.73606	D	0.051965	0.64878	D	0.231	0.53208	.	.	0.250512400709	0.24649	0.4478086607302675	0.44698	.	.	0.639398336411	0.58478	T	0.42849	0.77761	T	-0.0913031	0.37860	T	-0.272073	0.47609	T	0.978215634822845	0.72217	D	0.944805	0.79065	D	0.11461472	0.27057	0.115768656	0.27946	0.11461472	0.27057	0.115768656	0.27945	-8.205	0.62459	D	.	.	0.223	0.45544	B	.;.	.;.	4.843862	0.79105	27.0	0.99891934752563827	0.96589	0.98654	0.85187	D	AEFBI	0.588689	0.58586	D	0.202629344792859	0.51327	3.314773	0.085535631605291	0.43819	2.675917	0.999953642336569	0.48110	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.96	4.09	0.47038	3.524000	0.53250	1.698000	0.28113	0.676000	0.76740	0.997000	0.40164	0.951000	0.29025	0.186000	0.21481	0.0:0.0:0.7324:0.2676	14.991	0.71046	623	0.65786	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	556.83	36	chr8	120693819	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=269;ExcessHet=0;FS=0.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=1.67;SOR=0.873	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr8	123369919	123369927	TCATCATCA	-	exonic	ATAD2	.	nonframeshift deletion	ATAD2:NM_014109:exon7:c.825_833del:p.D275_D277del	.	3	209	5	0	9	14	0.0118203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0009	0.0022	0.0019	0.0011	0.0042	0	0.0021	0.0003458	9	26028	rs751807156	0.0025	0.0026	0.0025	0.0025	0.0032	0.0025	0.0024	0.0027	0.0027	0.0005	0.0032	0.0024	0.0007	0.0012	0.0009	0.0028	0.0023	0.0018	0.0021	0.0021	0.0023	0.0019	0.0035	0.0019	0.0018	0.0027	0.0025	0.0007	0	0.0024	0.0026	0.0017	0.0009	0	0.0030	0.0024	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	711.79	34	chr8	123369918	.	TTCATCATCA	T	711.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=237;ExcessHet=0;FS=4.566;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=2.59;SOR=0.423	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	5	0	1	0
chr8	123812551	123812551	G	T	exonic	FAM91A1	.	nonsynonymous SNV	FAM91A1:NM_001317917:exon24:c.G1638T:p.E546D,FAM91A1:NM_144963:exon24:c.G2364T:p.E788D	.	437	1077	7	1	0	9	0.00416089	.	.	.	2828487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	.	0.00199681	0.0008	0	0	0	0	3.049e-05	0.0023	0.0064	0.0006662	103	154602	rs559570553	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	3.123e-05	0	0	2.554e-05	0	0.0011	1.176e-05	0.0004	0.0058	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0056	0.813	0.03013	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.085531	0.936837	0.37169	D	0	0.06538	N	1.47	0.31987	T	-0.02	0.07299	N	0.057	0.02861	-1.0542	0.13251	T	0.028	0.11971	T	10	0.00415954	0.00082	T	.	.	.	0.109	0.30843	0.21	0.12781	0.043077524339	0.03247	0.2892239892632202	0.28835	0.405078446708	0.41395	0.377963334322	0.21966	T	0.051914	0.29014	T	-0.564537	0.00238	T	-0.581499	0.14411	T	0.0440003081627695	0.04421	T	0.689031	0.29821	T	0.093532726	0.21971	0.08083919	0.18322	0.093532726	0.21970	0.08083919	0.18321	-2.506	0.05822	T	.	.	0.060	0.00979	B	.	.	0.658592	0.10271	7.005	0.95230278743824681	0.26460	0.89888	0.50651	D	AEFBI	0.156875	0.28230	N	-0.64946134204889	0.17476	0.8996107	-0.450031101368281	0.23548	1.284729	0.537883968128475	0.21229	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.89	4.1	0.47196	0.437000	0.21261	3.055000	0.36136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.1385:0.0:0.7261:0.1354	8.225	0.30722	940	0.13648	FAM91, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000611	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004202	0.08333	458.83	35	chr8	123812551	.	G	T	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.56;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.59;MQRankSum=-0.784;QD=14.8;ReadPosRankSum=-1.903;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,725	5	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.08333	846.83	34	chr8	124010665	.	C	T	846.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.501;DP=239;ExcessHet=0;FS=1.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=2.64;SOR=0.481	GT:AD:DP:GQ:PL	0/1:29,32:61:99:857,0,807	5	0	1	0
chr8	124039935	124039935	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon20:c.G2518A:p.A840T	.	425	1059	35	3	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	.	0.0052	0.00579073	0.0060	0.0005	0.0029	0	0.0023	0.0070	0.0033	0.0119	0.0058667	907	154602	rs142217401	0.0060	0.0060	0.0057	0.0064	0.0184	0.0059	0.0059	0.0155	0.0145	0.0016	0.0026	0.0310	0	0.0025	0.0184	0.0055	0.0076	0.0117	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0094	0.0010	0	0.0068	0.0346	0	0.0042	0.0102	0.0061	0.0038	0.0128	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.385	0.91502	M	-0.47	0.70133	T	-2.98	0.62008	D	0.743	0.74280	0.236	0.86505	D	0.489	0.80570	T	10	0.009503335	0.00214	T	.	.	.	0.573	0.82686	.	.	0.500678981321	0.49703	0.49789396815745735	0.49710	0.508400521286	0.48994	0.630729317665	0.57248	T	0.371066	0.73549	T	-0.0170175	0.49277	T	0.213167	0.83826	D	0.0513036213528473	0.05727	T	0.968103	0.88413	D	0.38378093	0.59588	0.51439893	0.71942	0.38378093	0.59589	0.51439893	0.71942	-11.287	0.81209	D	.	.	0.749	0.74994	P	.	.	5.545356	0.92002	32	0.99946500699424612	0.99901	0.93654	0.58812	D	ALL	0.893354	0.83121	D	1.02785673737034	0.96537	14.81895	0.962320638862546	0.97756	16.70569	1.0	0.98316	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.64	5.64	0.86480	9.968000	0.99102	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.473	0.90727	686	0.59327	C2 domain|C2 domain|C2 domain|Ferlin, fourth 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	0.015609	0.000000	0.020380	0.017544	0.000000	0.008621	0.021341	0.015152	0.08333	2816.83	170	chr8	124039935	.	G	A	2816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.762;DP=368;ExcessHet=0;FS=9.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=0.579;SOR=0.29	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr8	124076322	124076322	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon32:c.G4217A:p.G1406E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.0781053936767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	2.205	0.62170	M	-1.33	0.79854	T	-7.54	0.95160	D	0.874	0.87157	0.360	0.88494	D	0.659	0.88163	D	10	0.8942176	0.88772	D	0.078105	0.72926	D	0.823	0.94353	0.614	0.74768	0.52297913765	0.51942	0.6347747319034354	0.63411	0.608326245006	0.55607	0.774493932724	0.78097	T	0.552581	0.84877	D	0.398545	0.89830	D	0.334706	0.89703	D	0.999058067798615	0.96022	D	0.958004	0.84234	D	0.8952279	0.90960	0.9295668	0.97064	0.8952279	0.90962	0.9295668	0.97065	-15.128	0.96145	D	.	.	0.988	0.93122	P	.	.	5.187145	0.86985	29.1	0.99775916803840259	0.86346	0.99095	0.91152	D	AEFGBI	0.943317	0.94900	D	0.880089642326928	0.90750	10.54837	0.870765424647811	0.94170	12.55529	0.999999999712128	0.74766	0.516011	0.20929	0	0.588764	0.42986	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	10.003000	0.99689	11.756000	0.95519	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	19.702	0.96053	809	0.43032	C2 domain|C2 domain|C2 domain|Ferlin, fifth 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	.	.	.	.	.	.	.	.	0.08333	663.83	33	chr8	124076322	.	G	A	663.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.181;DP=215;ExcessHet=0;FS=4.461;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.298;SOR=0.836	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1198	5	0	1	0
chr8	124451696	124451696	G	C	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G769C:p.G257R	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0009	0.00399361	0.0045	0.0002	0.0009	0	0	0.0009	0.0066	0.0285	0.0038809	600	154602	rs148858836	0.0020	0.0020	0.0012	0.0028	0.0253	0.0019	0.0019	0.0244	0.0241	0.0003	0.0010	0.0015	0	1.872e-05	0.0092	0.0004	0.0024	0.0253	0.0014	0.0014	0.0009	0.0019	0.0237	0.0012	0.0012	0.0201	0.0188	9.624e-05	0	0.0014	0.0012	0	0	0.0068	0.0008	0.0047	0.0237	0.387	0.10945	T	0.787	0.04234	T	0.277	0.31978	B	0.292	0.40739	B	0.099600	0.19926	N	0.571867	0.99991	0.19694	N	1.065	0.27018	L	1.13	0.38556	T	0.73	0.02068	N	0.183	0.19861	-1.0247	0.22181	T	0.105	0.38366	T	10	0.0047546923	0.00100	T	.	.	.	0.097	0.27909	.	.	0.082315109003	0.07666	0.6696233123562838	0.66900	0.328560466209	0.34964	0.59677696228	0.52450	T	0.002738	0.02136	T	-0.452658	0.01090	T	-0.402716	0.33068	T	0.0453637498981926	0.04668	T	0.946005	0.79398	D	0.18428667	0.39737	0.17261861	0.39530	0.18428667	0.39737	0.17261861	0.39530	-4.047	0.24504	T	.	.	0.087	0.10979	B	.	.	3.296526	0.45235	22.1	0.97430559167786401	0.33926	0.58537	0.30668	D	AEFGBCI	0.274209	0.38945	N	0.0604140368447166	0.44623	2.732964	0.196258597748989	0.49640	3.164913	0.999998147199328	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.66	4.77	0.60425	3.574000	0.53608	4.972000	0.46406	0.676000	0.76740	0.907000	0.31601	1.000000	0.68203	0.954000	0.50415	0.0813:0.0:0.9187:0.0	13.294	0.59724	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-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	0.009567	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.030303	0.08333	1815.83	154	chr8	124451696	.	G	C	1815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.647;DP=355;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0;SOR=0.578	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr8	124553103	124553103	G	T	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001363300:exon13:c.C1962A:p.D654E,MTSS1:NM_001363301:exon13:c.C1959A:p.D653E,MTSS1:NM_001363302:exon13:c.C1911A:p.D637E,MTSS1:NM_001282974:exon14:c.C2082A:p.D694E,MTSS1:NM_001363294:exon14:c.C2154A:p.D718E,MTSS1:NM_001363295:exon14:c.C2106A:p.D702E,MTSS1:NM_001363298:exon14:c.C2079A:p.D693E,MTSS1:NM_001363299:exon14:c.C1974A:p.D658E,MTSS1:NM_014751:exon14:c.C2157A:p.D719E,MTSS1:NM_001282971:exon15:c.C2169A:p.D723E,MTSS1:NM_001363296:exon15:c.C2094A:p.D698E,MTSS1:NM_001363297:exon15:c.C2091A:p.D697E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00476770475096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	0.05992	T	1.0	0.01155	T	0.0	0.12996	B	0.001	0.12133	B	0.062757	0.22075	N	0.500084	0.999824	0.81001	N	1.265	0.31966	L	1.6	0.28604	T	-0.51	0.21215	N	0.034	0.04547	-1.0130	0.25975	T	0.069	0.28180	T	10	0.07856375	0.12535	T	0.004768	0.11910	T	0.063	0.18251	0.052	0.00113	0.587762011895	0.58451	0.06679750434703359	0.06617	0.330764358393	0.35157	0.42318880558	0.28275	T	0.184442	0.53709	T	-0.29714	0.08932	T	-0.664598	0.07959	T	0.0281491260975599	0.01710	T	0.754325	0.38317	T	0.038518023	0.05147	0.0329894	0.02120	0.038518023	0.05146	0.0329894	0.02120	-3.02	0.11239	T	.	.	0.085	0.10352	B	.;.;.;.;.	.;.;.;.;.	1.239312	0.16346	12.48	0.57590919780145378	0.05803	0.90936	0.52543	D	AEFGBCI	0.283399	0.39651	N	-0.416956948475576	0.24875	1.346245	-0.38479944543262	0.25450	1.399631	0.999949559600784	0.47345	0.67177	0.52595	0	0.379588	0.06130	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	6.14	1.13	0.19758	0.229000	0.17614	0.641000	0.20320	-0.106000	0.15538	0.956000	0.33378	0.997000	0.33255	0.685000	0.33688	0.1822:0.4378:0.38:0.0	8.837	0.34276	893	0.26510	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1783.83	42	chr8	124553103	.	G	T	1783.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=318;ExcessHet=0;FS=11.385;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.548;SOR=1.574	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1175	5	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	207.59	102	chr8	132010871	.	G	C	207.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.486;DP=687;ExcessHet=1.383;FS=212.538;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.918;SOR=9.926	GT:AD:DP:GQ:PL	0/1:94,33:137:51:51,0,1415	2	0	3	1
chr8	132098932	132098932	G	A	exonic	HHLA1	.	nonsynonymous SNV	HHLA1:NM_001145095:exon4:c.C230T:p.A77V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00861135575219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023505309	1.644e-05	1.642e-05	1.411e-05	1.884e-05	0.0002	1.095e-05	9.15e-06	1.049e-05	5.18e-06	6.334e-05	0	0	5.599e-05	2.028e-05	0.0002	1.205e-05	6.895e-05	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.035	0.43708	D	0.032	0.54541	D	0.972	0.57405	D	0.552	0.49293	P	.	.	.	.	1	0.08975	N	2.135	0.59519	M	.	.	.	-1.57	0.37955	N	0.627	0.64137	-1.0432	0.16354	T	0.092	0.35146	T	8	0.4073789	0.55987	T	0.008611	0.22755	T	0.140	0.37593	0.213	0.13210	0.0401082797425	0.02173	0.15311328799339585	0.15233	.	.	0.35773396492	0.19054	T	0.074087	0.34855	T	-0.0942587	0.37372	T	-0.362354	0.37780	T	0.87975800037384	0.52974	D	0.847215	0.53103	T	0.11247511	0.26571	0.18131942	0.40987	0.11247511	0.26570	0.18131942	0.40986	-3.697	0.19274	T	.	.	0.137	0.38426	B	.;.	.;.	3.814690	0.55040	23.6	0.99892276664721313	0.96589	0.30470	0.24091	N	AEFDBI	0.162547	0.28873	N	0.0192981092595456	0.42732	2.580378	-0.0148846139057998	0.39041	2.308965	0.00186301349967884	0.08957	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.16	0.70563	3.629000	0.54007	6.374000	0.55530	0.671000	0.69459	0.316000	0.25468	0.997000	0.33255	0.599000	0.31363	0.0:0.0:0.7173:0.2827	13.575	0.61330	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001253	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.000000	0.1667	1332.04	38	chr8	132098932	.	G	A	1332.04	.	AC=2;AF=0.167;AN=12;DP=303;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.34;SOR=0.919	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	1	0	0
chr8	132897714	132897714	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon12:c.C3067T:p.R1023W	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0266844100394	7.7e-05	0.000199681	4.944e-05	0.0003	0	0	0	4.498e-05	0	0	4.53e-05	7	154602	rs114452431	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.324e-05	7.712e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	1.978e-05	0	2.319e-05	8.534e-05	8.53e-05	7.707e-05	9.399e-05	0.0003	4.953e-05	3.959e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	2.94e-05	0	0	0.133	0.26409	T	0.188	0.28669	T	0.002	0.09854	B	0.002	0.06944	B	0.000730	0.00674	N	3.109570	1	0.08975	N	1.275	0.32135	L	-0.07	0.63738	T	-1.01	0.26639	N	0.148	0.15046	-1.0187	0.24139	T	0.128	0.43544	T	10	0.038980603	0.02355	T	0.026684	0.49576	D	0.232	0.53354	.	.	0.542630587416	0.53915	0.526497907780505	0.52573	0.0719027453471	0.08059	0.265279382467	0.05536	T	0.039	0.25175	T	-0.255136	0.13476	T	-0.367593	0.37169	T	0.0953842625021935	0.11841	T	0.506149	0.16021	T	0.081641406	0.18768	0.029271893	0.01247	0.081641406	0.18768	0.029271893	0.01247	-5.99	0.46196	T	0.14376432242904225	0.16369	0.075	0.05360	B	.	.	0.974442	0.13517	10.04	0.55480740806985318	0.05351	0.05170	0.10987	N	AEFDBI	0.136764	0.25754	N	-1.1504758244399	0.05772	0.2640099	-1.17929908771484	0.06257	0.3005844	0.962385307652049	0.28619	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-1.61	0.07951	0.544000	0.22960	-4.991000	0.01896	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2225:0.2127:0.1921:0.3726	0.373	0.00356	781	0.47532	Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1542.83	64	chr8	132897714	.	C	T	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.629;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=0.571;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	5	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1667	4559.06	34	chr8	132941380	.	C	T	4559.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.806;DP=511;ExcessHet=0.4139;FS=2.899;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.65;SOR=0.87	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2023,0,2240	4	0	2	0
chr8	133191182	133191182	C	T	exonic	CCN4	.	nonsynonymous SNV	CCN4:NM_001204869:exon1:c.C38T:p.T13I,CCN4:NM_001204870:exon1:c.C38T:p.T13I,CCN4:NM_003882:exon1:c.C38T:p.T13I,CCN4:NM_080838:exon1:c.C38T:p.T13I	.	430	1077	13	2	0	17	0.00783049	.	.	.	3292544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0356155637784	0.0005	0.000199681	0.0004	0	0.0004	0	0	0.0004	0.0029	0.0007	0.000304	47	154602	rs149172980	0.0004	0.0004	0.0004	0.0004	0.0107	0.0004	0.0003	0.0085	0.0077	0.0002	0.0004	0.0016	0	0	0.0107	0.0003	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.812e-05	0	0.0006	0.0014	0	0	0	0.0004	0.0009	0.0012	0.113	0.43085	T	0.304	0.92824	T	0.001	0.12996	B	0.002	0.11217	B	0.564578	0.05444	N	1.249740	0.783441	0.34296	D	1.39	0.34934	L	-1.18	0.82806	T	-1.15	0.32590	N	0.271	0.34981	-0.6517	0.62640	T	0.344	0.70964	T	10	0.03453362	0.01665	T	0.035616	0.56462	D	0.280	0.59740	.	.	0.657540335597	0.65467	0.2011292496138533	0.20029	0.638599242714	0.57569	0.468920230865	0.34531	T	0.060963	0.31527	T	-0.226253	0.17148	T	-0.222224	0.52522	T	0.0302072114409639	0.02021	T	0.678032	0.28700	T	0.06633928	0.14263	0.08049462	0.18213	0.06633928	0.14262	0.08049462	0.18213	-4.709	0.34440	T	.	.	0.165	0.49186	B	.;.;.;.	.;.;.;.	2.833218	0.37356	20.5	0.99505252323292237	0.68264	0.68000	0.33638	D	AEFDGBI	0.053565	0.09663	N	-0.541885250640801	0.20739	1.095508	-0.380996507100726	0.25564	1.406622	0.999999958140857	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	3.53	0.39533	0.549000	0.23037	1.702000	0.28138	0.599000	0.40250	0.597000	0.27722	0.888000	0.27792	0.980000	0.58198	0.0:0.8134:0.0:0.1866	8.746	0.33750	842	0.36989	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009654	0.000000	0.009511	0.014706	0.000000	0.034483	0.006289	0.003817	0.08333	610.83	41	chr8	133191182	.	C	T	610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.217;DP=198;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.039;SOR=0.963	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1171	5	0	1	0
chr8	138148665	138148665	T	A	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon14:c.A3303T:p.K1101N,FAM135B:NM_015912:exon14:c.A3303T:p.K1101N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00898408988024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	1.368e-06	0	1.383e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.073	0.43159	T	0.028	0.19712	B	0.009	0.14300	B	0.000000	0.84330	D	0.052775	0.972898	0.38982	D	2.06	0.56677	M	2.39	0.15724	T	-1.92	0.44657	N	0.216	0.24135	-1.1338	0.01609	T	0.070	0.28609	T	10	0.08404735	0.14046	T	0.008984	0.23655	T	0.093	0.26882	0.37	0.38013	0.117191471859	0.11215	0.6074436903089347	0.60676	1.12124685148	0.78307	0.524117708206	0.42207	T	0.08545	0.37504	T	-0.256435	0.13320	T	-0.606127	0.12301	T	0.875644862651825	0.52552	D	0.783622	0.42065	T	0.25547695	0.48582	0.20388824	0.44487	0.25547695	0.48581	0.20388824	0.44486	-8.696	0.65720	D	.	.	0.197	0.41947	B	.	.	2.600902	0.33759	19.43	0.99570812389586716	0.72379	0.83570	0.42678	D	AEI	0.469095	0.51562	N	-0.0372381566230602	0.40175	2.381394	0.00810423773169052	0.40090	2.387085	1.45656700976475E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	2.19	0.26890	0.078000	0.14615	0.040000	0.13855	0.665000	0.62972	0.970000	0.34288	0.961000	0.29326	1.000000	0.97212	0.0:0.2943:0.0:0.7057	9.100	0.35826	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	299.83	28	chr8	138148665	.	T	A	299.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.061;DP=178;ExcessHet=0;FS=3.211;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.177;SOR=1.473	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	5	0	1	0
chr8	140702673	140702673	G	A	exonic	PTK2	.	nonsynonymous SNV	PTK2:NM_001352749:exon4:c.C194T:p.A65V,PTK2:NM_001352750:exon4:c.C194T:p.A65V,PTK2:NM_001352751:exon4:c.C194T:p.A65V,PTK2:NM_001352752:exon4:c.C194T:p.A65V,PTK2:NM_001352728:exon23:c.C2156T:p.A719V,PTK2:NM_001352741:exon23:c.C1925T:p.A642V,PTK2:NM_001352745:exon23:c.C1838T:p.A613V,PTK2:NM_001352746:exon23:c.C1793T:p.A598V,PTK2:NM_001352694:exon24:c.C2264T:p.A755V,PTK2:NM_001352720:exon24:c.C2264T:p.A755V,PTK2:NM_001352742:exon24:c.C1901T:p.A634V,PTK2:NM_001352744:exon24:c.C1856T:p.A619V,PTK2:NM_001199649:exon25:c.C2264T:p.A755V,PTK2:NM_001316342:exon25:c.C1964T:p.A655V,PTK2:NM_001352713:exon25:c.C2285T:p.A762V,PTK2:NM_001352715:exon25:c.C2282T:p.A761V,PTK2:NM_001352718:exon25:c.C2264T:p.A755V,PTK2:NM_001352719:exon25:c.C2264T:p.A755V,PTK2:NM_001352729:exon25:c.C2195T:p.A732V,PTK2:NM_001352733:exon25:c.C2027T:p.A676V,PTK2:NM_001352738:exon25:c.C1964T:p.A655V,PTK2:NM_001352739:exon25:c.C1946T:p.A649V,PTK2:NM_001352740:exon25:c.C1943T:p.A648V,PTK2:NM_005607:exon25:c.C2330T:p.A777V,PTK2:NM_153831:exon25:c.C2264T:p.A755V,PTK2:NM_001352696:exon26:c.C1964T:p.A655V,PTK2:NM_001352706:exon26:c.C2303T:p.A768V,PTK2:NM_001352711:exon26:c.C2300T:p.A767V,PTK2:NM_001352714:exon26:c.C2285T:p.A762V,PTK2:NM_001352717:exon26:c.C2282T:p.A761V,PTK2:NM_001352721:exon26:c.C2303T:p.A768V,PTK2:NM_001352725:exon26:c.C2264T:p.A755V,PTK2:NM_001352726:exon26:c.C2195T:p.A732V,PTK2:NM_001352727:exon26:c.C2303T:p.A768V,PTK2:NM_001352730:exon26:c.C2048T:p.A683V,PTK2:NM_001352732:exon26:c.C2048T:p.A683V,PTK2:NM_001352734:exon26:c.C2048T:p.A683V,PTK2:NM_001352735:exon26:c.C1985T:p.A662V,PTK2:NM_001352736:exon26:c.C1979T:p.A660V,PTK2:NM_001352737:exon26:c.C2027T:p.A676V,PTK2:NM_001352743:exon26:c.C1964T:p.A655V,PTK2:NM_001352747:exon26:c.C842T:p.A281V,PTK2:NM_001352695:exon27:c.C2366T:p.A789V,PTK2:NM_001352700:exon27:c.C2387T:p.A796V,PTK2:NM_001352704:exon27:c.C2366T:p.A789V,PTK2:NM_001352705:exon27:c.C2342T:p.A781V,PTK2:NM_001352707:exon27:c.C2303T:p.A768V,PTK2:NM_001352708:exon27:c.C2303T:p.A768V,PTK2:NM_001352709:exon27:c.C2303T:p.A768V,PTK2:NM_001352710:exon27:c.C2303T:p.A768V,PTK2:NM_001352716:exon27:c.C2279T:p.A760V,PTK2:NM_001352722:exon27:c.C2303T:p.A768V,PTK2:NM_001352723:exon27:c.C2303T:p.A768V,PTK2:NM_001352724:exon27:c.C2303T:p.A768V,PTK2:NM_001352731:exon27:c.C2048T:p.A683V,PTK2:NM_001352698:exon28:c.C2426T:p.A809V,PTK2:NM_001352699:exon28:c.C2387T:p.A796V,PTK2:NM_001352701:exon28:c.C2387T:p.A796V,PTK2:NM_001352702:exon28:c.C2387T:p.A796V,PTK2:NM_001352703:exon28:c.C2387T:p.A796V,PTK2:NM_001352712:exon29:c.C2387T:p.A796V,PTK2:NM_001352697:exon30:c.C2519T:p.A840V	.	426	1095	1	0	0	1	0.000456413	.	.	.	3318235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0336656385199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403693308	3.421e-06	3.42e-06	0	6.876e-06	2.236e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.236e-05	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.57480	T	0.233	0.46632	T	0.026	0.26290	B	0.01	0.24114	B	0.000020	0.62929	D	0.154764	0.916959	0.81001	D	1.24	0.30952	L	-1.0	0.76300	T	-1.14	0.53258	N	0.308	0.40864	-0.7937	0.55514	T	0.219	0.58137	T	10	0.17611009	0.32577	T	0.033666	0.55143	D	0.084	0.24469	0.381	0.39807	0.692736788463	0.69009	0.5772086405088804	0.57649	0.396212701024	0.40736	0.440617203712	0.30661	T	0.395661	0.75449	T	-0.0619555	0.42600	T	-0.243906	0.50415	T	0.476059526205063	0.31753	T	0.975302	0.91244	D	0.10579689	0.25016	0.11695692	0.28235	0.10579689	0.25016	0.11695692	0.28234	-3.802	0.22423	T	.	.	0.088	0.24226	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.573782	0.50344	22.9	0.99591109573495984	0.73631	0.95854	0.66439	D	AEFGBI	0.792693	0.72091	D	-0.264873327607955	0.30515	1.702151	-0.0409517594977978	0.37884	2.224285	0.999992121856827	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	4.786000	0.62117	7.303000	0.58097	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0726:0.0:0.9274:0.0	14.334	0.66132	987	0.02648	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1163.83	35	chr8	140702673	.	G	A	1163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.555;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.426;SOR=0.639	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1174,0,1329	5	0	1	0
chr8	141218541	141218541	C	T	exonic	SLC45A4	.	nonsynonymous SNV	SLC45A4:NM_001080431:exon4:c.G946A:p.A316T,SLC45A4:NM_001286648:exon4:c.G946A:p.A316T,SLC45A4:NM_001286646:exon5:c.G1099A:p.A367T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0065088512367	0.0028	0.00239617	0.0007	0.0083	0.0003	0	0	1.525e-05	0	0	0.0006792	105	154602	rs61995887	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0051	0.0061	0.0004	0	0	0	0.0007	2.248e-05	0.0004	3.478e-05	0.0018	0.0018	0.0020	0.0017	0.0063	0.0016	0.0016	0.0057	0.0055	0.0063	0	0.0007	0	0	0	0	1.47e-05	0.0014	0	0.649	0.11550	T	0.461	0.14865	T	0.004	0.22733	B	0.002	0.11217	B	0.787986	0.06694	N	1.100310	1	0.08975	N	.	.	.	2.56	0.14038	T	-0.11	0.09297	N	0.103	0.18103	-0.9554	0.40024	T	0.012	0.04416	T	10	0.0038675368	0.00073	T	0.006509	0.17157	T	0.005	0.00259	.	.	0.0716867268079	0.06686	0.3290844275407139	0.32821	0.285314286895	0.30943	0.25253456831	0.04039	T	0.00568	0.05129	T	-0.713918	0.00030	T	-0.794125	0.02054	T	0.000909776049981543	0.00009	T	0.518148	0.20130	T	.	.	.	.	.	.	.	.	-3.728	0.19865	T	.	.	0.068	0.02733	B	.;.;.	.;.;.	-0.409064	0.02180	0.214	0.89589579351847326	0.18927	0.19582	0.20717	N	AEFBCI	0.037228	0.05088	N	-1.13845037847263	0.05972	0.2737019	-1.13034036551176	0.07126	0.3454565	0.991474477598644	0.32501	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.79	0.841	0.18052	0.158000	0.16239	-2.702000	0.03451	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.628:0.1174:0.2546	6.906	0.23489	963	0.08280	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	893.83	34	chr8	141218541	.	C	T	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=292;ExcessHet=0;FS=11.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.33;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1047	5	0	1	0
chr8	141218829	141218829	C	T	exonic	SLC45A4	.	nonsynonymous SNV	SLC45A4:NM_001080431:exon4:c.G658A:p.A220T,SLC45A4:NM_001286648:exon4:c.G658A:p.A220T,SLC45A4:NM_001286646:exon5:c.G811A:p.A271T	.	429	1092	0	1	0	2	0.000914913	.	.	.	2678161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00332730671169	.	.	5.011e-05	9.846e-05	0.0002	0	0	0	0	0.0002	3.88e-05	6	154602	rs756143827	2.875e-05	2.873e-05	2.452e-05	3.302e-05	0.0003	2.153e-05	1.909e-05	7.125e-05	5.483e-05	0	4.474e-05	0	2.519e-05	3.806e-05	0.0003	1.619e-05	9.938e-05	0.0001	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0004	1.714e-05	1.128e-05	7.296e-05	3.031e-05	4.81e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.684	0.06086	T	0.631	0.07173	T	0.002	0.23796	B	0.009	0.14941	B	0.000059	0.00414	N	2587.460000	1	0.08975	N	.	.	.	2.56	0.42502	T	0.31	0.04022	N	0.059	0.12055	-1.0938	0.04929	T	0.049	0.20711	T	10	0.041532874	0.02818	T	0.003327	0.07421	T	0.015	0.02232	0.334	0.32167	0.0716867268079	0.06686	0.20677370744863963	0.20593	0.283711145729	0.30804	0.334583342075	0.15625	T	0.003031	0.02432	T	-0.445652	0.01198	T	-0.618246	0.11323	T	0.0108366807014061	0.00154	T	0.517348	0.17685	T	.	.	.	.	.	.	.	.	-4.056	0.25614	T	.	.	0.066	0.02428	B	.;.;.;.	.;.;.;.	-0.259676	0.02800	0.384	0.76902183383641121	0.11656	0.30659	0.24139	N	AEFDGBCI	0.071585	0.14258	N	-1.2969088157518	0.03713	0.1663442	-1.33398367265784	0.03998	0.1876842	0.999837784482828	0.43792	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.09	-2.8	0.05477	-0.304000	0.08238	-0.446000	0.09129	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.148:0.357:0.2095:0.2856	1.002	0.01385	963	0.08280	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1292.83	34	chr8	141218829	.	C	T	1292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.82;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.463;SOR=0.682	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1047	5	0	1	0
chr8	141479938	141479938	G	A	exonic	MROH5	.	unknown	UNKNOWN	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.50327	.	.	.	.	.	.	.	0.18843314	0.34398	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	.	.	.	.	0.481720626354	0.36294	T	.	.	.	-0.0553577	0.43628	T	-0.317294	0.42871	T	.	.	.	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41418	B	.	.	2.367126	0.30367	18.42	0.99750179226632307	0.84228	0.29405	0.23813	N	AEFBI	0.059036	0.11119	N	.	.	.	.	.	.	0.00375754857762003	0.10266	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.38	3.49	0.39065	1.672000	0.37139	3.072000	0.36204	-0.236000	0.07595	0.178000	0.24038	1.000000	0.68203	0.763000	0.36255	0.1221:0.0:0.8779:0.0	7.265	0.25399	895	0.25842	.	.	.	.	.	.	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	974.83	40	chr8	141479938	.	G	A	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.805;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=1.37;SOR=0.596	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	5	0	1	0
chr8	142875830	142875830	T	C	exonic	CYP11B1	.	nonsynonymous SNV	CYP11B1:NM_000497:exon6:c.A1003G:p.N335D,CYP11B1:NM_001026213:exon6:c.A1003G:p.N335D	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Autosomal recessive;Aldosteronism, glucocorticoid-remediable, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	44641	not_specified|not_provided|Congenital_adrenal_hyperplasia|Glucocorticoid-remediable_aldosteronism|Deficiency_of_steroid_11-beta-monooxygenase	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0008729,MedGen:C0268292,OMIM:202010,Orphanet:90795	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.0026	0.00279553	0.0012	0.0115	0.0006	0.0002	0	0.0001	0.0011	0.0004	0.0011061	171	154602	rs61752766	0.0003	0.0004	0.0003	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0004	0	0.0001	1.873e-05	0	4.946e-05	0.0005	0.0002	0.0023	0.0024	0.0023	0.0022	0.0076	0.0021	0.0020	0.0070	0.0067	0.0076	0	0.0016	0	0.0002	0.0002	0	2.942e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.116882	0.02690	N	1.897250	1	0.08975	N	-1.655	0.00384	N	-0.08	0.63911	T	1.4	0.00936	N	0.093	0.07262	-1.0021	0.29313	T	0.045	0.19437	T	10	0.012870431	0.00275	T	.	.	.	0.017	0.02790	.	.	0.480274617672	0.47656	0.6461935221990315	0.64554	0.0960441938547	0.10841	0.632202386856	0.57457	T	0.099966	0.40529	T	-0.642146	0.00081	T	-0.689625	0.06410	T	0.00139546130952381	0.00014	T	0.00360873	0.00039	T	0.11409973	0.26940	0.07639056	0.16913	0.1003987	0.23705	0.11643791	0.28108	0.161	0.00831	T	.	.	0.048	0.01428	B	.;.;.	.;.;.	-1.335472	0.00409	0.008	0.46723027083485563	0.03764	0.00113	0.00716	N	AEFDGBI	0.024334	0.01490	N	-1.80989377264299	0.00521	0.02244069	-1.74573194822372	0.00949	0.04250722	3.96880493378859E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.42	-0.977	0.09757	-1.543000	0.02298	-3.832000	0.02508	-4.761000	0.00021	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2528:0.497:0.0:0.2502	4.823	0.12766	987	0.02648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1571.83	36	chr8	142875830	.	T	C	1571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=347;ExcessHet=0;FS=4.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.938;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	5	0	1	0
chr8	142914761	142914761	A	G	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon4:c.T743C:p.I248T	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	711339	not_provided|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyl_oxidase_type_II_deficiency	MedGen:C3661900|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0491592199511	.	.	0.0004	0.0006	9.283e-05	0	0.0011	0.0005	0.0012	0	0.0016136	42	26028	rs4547	0.0009	0.0020	0.0010	0.0009	0.0086	0.0009	0.0009	0.0078	0.0075	0.0086	0.0019	0	7.557e-05	0.0012	0.0009	0.0007	0.0022	8.126e-05	0.0057	0.0069	0.0059	0.0055	0.0149	0.0054	0.0053	0.0139	0.0135	0.0149	0.0033	0.0042	0	0.0004	0.0014	0.0068	0.0025	0.0033	0.0002	0.556	0.06461	T	0.091	0.40110	T	0.0	0.02946	B	0.005	0.11217	B	0.756477	0.06515	N	1.139050	1	0.08975	N	-0.695	0.01866	N	-0.38	0.69027	T	0.74	0.02038	N	0.051	0.02272	-1.0278	0.21168	T	0.104	0.38144	T	10	0.0040483177	0.00079	T	0.049159	0.63689	D	0.032	0.07718	.	.	0.27132560031	0.26736	0.20737873784778507	0.20653	0.286842265143	0.31076	0.317195743322	0.12996	T	0.114507	0.43238	T	-0.592472	0.00162	T	-0.619816	0.11199	T	0.00299051845383322	0.00031	T	0.0984901	0.00732	T	0.19973059	0.41923	0.08223399	0.18752	0.19973059	0.41923	0.08223399	0.18752	-3.284	0.13532	T	.	.	0.073	0.04477	B	.	.	0.442760	0.08128	4.859	0.73437403192244166	0.10328	0.01019	0.03833	N	AEFDGBI	0.028360	0.02483	N	-1.33586310131483	0.03274	0.1459594	-1.30383715217491	0.04381	0.2064848	4.74470483388935E-4	0.07095	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.69	0.07747	0.144000	0.15956	0.072000	0.14274	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.755000	0.35964	0.5414:0.0:0.4586:0.0	8.683	0.33380	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	160.83	75	chr8	142914761	.	A	G	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=337;ExcessHet=0;FS=4.786;MLEAC=1;MLEAF=0.083;MQ=47.56;MQRankSum=-4.293;QD=1.99;ReadPosRankSum=-1.269;SOR=1.163	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr8	142917752	142917752	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G89A:p.R30Q	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	313479	not_provided|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_methyl_oxidase_type_II_deficiency|Corticosterone_18-monooxygenase_deficiency	MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|.|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00199681	0.0011	0.0109	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0009961	154	154602	rs6441	0.0005	0.0005	0.0005	0.0004	0.0127	0.0005	0.0004	0.0117	0.0113	0.0127	0.0010	0	5.038e-05	0	0.0017	0.0001	0.0013	9.275e-05	0.0037	0.0037	0.0037	0.0038	0.0127	0.0035	0.0034	0.0118	0.0114	0.0127	0	0.0014	0	0.0002	0	0.0068	0.0001	0.0043	0	0.593	0.05755	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	0.080754	0.02351	U	2.457000	1	0.08975	N	-0.69	0.01958	N	-0.82	0.74053	T	-0.17	0.09627	N	0.031	0.00770	-0.9998	0.29973	T	0.086	0.33522	T	10	0.006872624	0.00156	T	.	.	.	0.113	0.31778	.	.	0.441949972293	0.43817	0.3279911864277752	0.32712	0.261723685699	0.28725	0.411951065063	0.26727	T	0.088526	0.38178	T	-0.611105	0.00125	T	-0.640198	0.09655	T	0.00150298370214804	0.00015	T	0.349965	0.07784	T	0.030228583	0.02650	0.03148591	0.01744	0.030228583	0.02649	0.03148591	0.01744	-3.734	0.19821	T	.	.	0.074	0.05274	B	.	.	-0.691650	0.01340	0.074	0.68884413144555334	0.08797	0.00390	0.01961	N	AEFDBI	0.016559	0.00380	N	-1.6700705384338	0.00953	0.04129815	-1.66122479467032	0.01319	0.05951107	1.27112602497627E-4	0.05386	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-1.82	0.07433	-0.288000	0.08412	0.588000	0.19789	-2.618000	0.00231	0.000000	0.06391	0.045000	0.21693	0.000000	0.00833	0.1936:0.2079:0.205:0.3935	0.354	0.00329	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	1	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	2680.83	39	chr8	142917752	.	C	T	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=379;ExcessHet=0;FS=9.964;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.335;SOR=0.317	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	5	0	1	0
chr8	142917776	142917776	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G65A:p.R22Q	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1654991	not_specified|not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.108152280726	7.7e-05	0.000399361	0.0002	0	8.646e-05	0	0	0.0001	0.0011	0.0007	0.0001488	23	154602	rs200559721	8.483e-05	8.482e-05	7.759e-05	9.213e-05	0.0003	7.209e-05	6.796e-05	0.0002	0.0002	0	4.472e-05	0.0004	2.519e-05	0	0	6.475e-05	0.0002	0.0003	5.251e-05	5.249e-05	6.422e-05	4.026e-05	0.0004	2.555e-05	1.828e-05	7.296e-05	3.031e-05	4.809e-05	0	0	0	0	0	0	5.879e-05	0	0.0004	0.205	0.20002	T	0.139	0.33666	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-0.86	0.74477	T	-0.93	0.24898	N	0.107	0.09207	-0.9526	0.40520	T	0.224	0.58818	T	9	0.03333193	0.01506	T	0.108152	0.78456	D	0.119	0.33137	.	.	0.534620942121	0.53112	0.3405581504927841	0.33968	0.264381924964	0.28988	0.523433029652	0.42109	T	0.186415	0.53970	T	-0.403266	0.02204	T	-0.467609	0.25774	T	0.0193289380663056	0.00638	T	0.672833	0.28129	T	0.03064894	0.02764	0.05480187	0.09493	0.03064894	0.02763	0.05480187	0.09493	-5.667	0.43399	T	.	.	0.084	0.09530	B	.	.	0.918778	0.12937	9.444	0.95385842083683514	0.26818	0.01012	0.03817	N	AEFDBI	0.040788	0.06114	N	-1.25815061001114	0.04194	0.1887897	-1.33778116363578	0.03952	0.1854133	8.91282890064773E-5	0.04703	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-0.747	0.10532	-0.285000	0.08444	-0.972000	0.06742	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4827:0.0:0.5173	6.473	0.21220	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	.	.	.	.	.	.	.	.	0.08333	1853.83	39	chr8	142917776	.	C	T	1853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.21;DP=492;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.675;SOR=0.642	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	5	0	1	0
chr8	143331229	143331229	T	C	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_052963:exon2:c.A233G:p.Y78C	.	.	.	.	.	.	.	.	.	.	.	3928060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.019797618027	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244083842	2.754e-06	4.104e-06	4.101e-06	1.387e-06	1.166e-05	6.4e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.715e-06	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.094339	0.20178	U	0.353469	0.999996	0.81001	D	3.82	0.95555	H	0.94	0.43672	T	-7.76	0.97728	D	0.747	0.74644	-0.5151	0.68098	T	0.310	0.68003	T	10	0.97978175	0.97918	D	0.019798	0.42253	T	0.366	0.68582	0.884	0.97032	0.542630587416	0.53915	0.6265502845329828	0.62588	0.654754854923	0.58542	0.618434309959	0.55508	T	0.489438	0.81466	T	0.237957	0.77470	D	0.104033	0.77177	D	0.993813753128052	0.84776	D	0.873413	0.61048	D	0.8895559	0.90469	0.7680341	0.86301	0.8895559	0.90470	0.7680341	0.86302	-8.486	0.64337	D	.	.	0.231	0.69546	B	.;.;.;.	.;.;.;.	2.753319	0.36096	20.2	0.9868373186697762	0.44652	0.89449	0.49921	D	AEFDBI	0.460320	0.51055	N	0.263854686458918	0.54329	3.598598	0.00222031072251799	0.39820	2.366777	0.997844173070088	0.36100	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.51	2.33	0.27981	3.936000	0.56280	.	.	0.585000	0.30472	1.000000	0.71638	0.000000	0.08366	0.321000	0.24994	0.0:0.1056:0.0:0.8944	7.679	0.27669	976	0.04745	DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-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	.	.	.	.	.	.	.	.	0.08333	993.83	35	chr8	143331229	.	T	C	993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.858;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.185;SOR=0.655	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr8	143379503	143379503	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon8:c.G940A:p.A314T	.	418	1077	23	4	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.101666304702	0.0019	0.00179712	0.0048	0.0006	0.0033	0	0	0.0044	0.0066	0.0073	0.0018176	281	154602	rs199609984	0.0031	0.0031	0.0031	0.0032	0.0140	0.0030	0.0030	0.0113	0.0103	0.0009	0.0020	0.0001	2.782e-05	8.308e-05	0.0140	0.0033	0.0033	0.0048	0.0022	0.0022	0.0022	0.0022	0.0056	0.0020	0.0019	0.0039	0.0034	0.0008	0.0033	0.0039	0.0003	0	0	0.0204	0.0029	0.0028	0.0056	0.044	0.41096	D	0.113	0.36901	T	.	.	.	.	.	.	0.000004	0.62929	N	0.061048	0.999449	0.47080	D	2.93	0.84523	M	2.07	0.20387	T	-3.34	0.66325	D	0.364	0.40565	-1.0938	0.04929	T	0.062	0.25672	T	10	0.012050003	0.00261	T	0.101666	0.77468	D	0.127	0.34888	.	.	0.235664433957	0.23186	0.39779810247814446	0.39694	0.0755392110658	0.08479	0.558147668839	0.47006	T	0.159767	0.50334	T	-0.484472	0.00697	T	-0.468283	0.25702	T	0.045643406678797	0.04719	T	0.819918	0.47811	T	0.30405015	0.53266	0.31682783	0.57661	0.30405015	0.53266	0.31682783	0.57661	-7.704	0.59035	D	.	.	0.115	0.23041	B	.	.	3.532197	0.49562	22.8	0.99507392132967576	0.68381	0.32998	0.24722	N	AEFDGBCI	0.084361	0.17098	N	0.109763883042408	0.46917	2.924881	0.0379858628087101	0.41495	2.49388	0.999998653722359	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.28	3.38	0.37806	4.331000	0.59057	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0868:0.0:0.7625:0.1507	8.509	0.32367	976	0.04745	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	1	0	0	0	0	0	0	0	0	0	0	0.016163	0.000000	0.015193	0.020958	0.000000	0.063636	0.012739	0.011811	0.08333	587.83	37	chr8	143379503	.	G	A	587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.313;DP=219;ExcessHet=0;FS=3.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.263;SOR=1.358	GT:AD:DP:GQ:PL	0/0:37,0:37:84:0,84,1260	5	0	1	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N	.	393	1085	41	3	0	47	0.0211998	.	.	.	1671780	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	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	0	0	1	0	0.012588	0.000000	0.019022	0.008772	0.000000	0.000000	0.015244	0.015152	0.08333	901.83	50	chr8	143538164	.	C	G	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.348;DP=239;ExcessHet=0;FS=2.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=2.01;SOR=1.179	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	5	0	1	0
chr8	143572046	143572046	C	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon2:c.G434A:p.R145Q	.	.	.	.	.	.	.	.	.	.	.	4036152	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.017755562794	.	.	2.742e-05	0.0002	0	0	0	1.652e-05	0	0	1.94e-05	3	154602	rs749927588	3.015e-05	3.01e-05	2.727e-05	3.307e-05	3.69e-05	2.286e-05	2.036e-05	2.745e-05	2.47e-05	2.991e-05	0	3.842e-05	0	0	0	3.69e-05	0	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.138	0.37326	T	0.04	0.50809	D	0.109	0.34565	B	0.004	0.19966	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.06	0.23486	T	-1.1	0.28497	N	0.138	0.13626	-1.0363	0.18450	T	0.037	0.16116	T	9	0.045329392	0.03591	T	0.017756	0.39584	T	0.025	0.05312	0.481	0.56142	0.0138822411134	0.00435	0.11824318341368135	0.11751	0.0632332699335	0.07035	0.424960672855	0.28519	T	0.004614	0.04018	T	-0.498588	0.00582	T	-0.674529	0.07321	T	0.0365666019412381	0.03079	T	.	.	.	0.05244244	0.09781	0.057054643	0.10303	0.05244244	0.09781	0.057054643	0.10303	-4.831	0.34951	T	.	.	0.077	0.17060	B	.;.	.;.	1.363388	0.17728	13.33	0.98090707337059191	0.38189	0.01747	0.05507	N	AEFDGBHCI	0.097115	0.19593	N	-0.854340083519331	0.11944	0.5792772	-0.919678819888649	0.11631	0.593681	0.999999762507752	0.74766	0.652421	0.48094	0	0.550933	0.16991	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.3	1.25	0.20475	-1.448000	0.02501	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.0:0.6141:0.0:0.3859	5.344	0.15303	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	820.83	63	chr8	143572046	.	C	T	820.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.8;DP=243;ExcessHet=0;FS=3.669;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.681;SOR=1.284	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	0
chr8	143613787	143613787	G	A	exonic	GFUS	.	nonsynonymous SNV	GFUS:NM_001317783:exon8:c.C712T:p.R238W,GFUS:NM_003313:exon8:c.C694T:p.R232W	.	.	.	.	.	.	.	.	.	.	.	2759277	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.671	0.298844964649	8.5e-05	0.000199681	0.0002	0	0	0	0	0.0005	0	0	3.23e-05	5	154602	rs376988546	5.577e-05	5.404e-05	6.349e-05	4.784e-05	3.985e-05	4.54e-05	4.199e-05	3.002e-05	2.668e-05	3.165e-05	0	0.0011	2.798e-05	2.063e-05	0	3.985e-05	5.172e-05	1.262e-05	6.566e-05	6.562e-05	6.423e-05	6.716e-05	0.0002	3.514e-05	2.615e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0.0009	0.0002	0	0	7.351e-05	0	0	0.037	0.43085	D	0.038	0.51421	D	0.593	0.39147	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	-3.3	0.93787	D	-7.47	0.94958	D	0.861	0.85766	0.532	0.90990	D	0.719	0.90345	D	10	0.5145667	0.62291	D	0.298845	0.90814	D	0.671	0.87820	.	.	0.980167587567	0.97994	0.7674171155174688	0.76690	0.190092444428	0.21326	0.518378973007	0.41397	T	0.669	0.90158	D	0.151899	0.69446	D	0.184016	0.82226	D	0.620670020580292	0.37233	D	.	.	.	0.7457854	0.80624	0.46757486	0.69112	0.7457854	0.80626	0.46757486	0.69113	-12.219	0.85901	D	.	.	0.279	0.51917	B	.;.;.	.;.;.	5.060306	0.84340	28.3	0.99753389903373624	0.84460	0.92478	0.55805	D	AEFBCI	0.752090	0.69270	D	0.234052495768119	0.52854	3.457247	0.286875093147031	0.54772	3.641294	0.999997950811733	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	2.986000	0.49059	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8228:0.1771	11.679	0.50709	964	0.07719	NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase	.	.	.	.	.	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	0.000631	0.000000	0.000000	0.000000	0.000000	0.000000	0.003650	0.000000	0.08333	1136.83	36	chr8	143613787	.	G	A	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.023;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.681;SOR=0.662	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1274	5	0	1	0
chr8	143726692	143726724	CCTGCGCTCCGGCACGGGGGGCACCGGACTACC	-	exonic	FAM83H	.	nonframeshift deletion	FAM83H:NM_198488:exon5:c.2737_2769del:p.G913_R923del	Amelogenesis imperfecta, type III, Autosomal dominant	0	1512	2	0	8	10	0.000660939	.	.	.	3226619	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0869	.	0.0008	0	0.0003	0.0002	0	0.0003	0	0.0036	.	.	.	rs782137070	0.0004	0.0004	0.0003	0.0006	0.0034	0.0004	0.0004	0.0031	0.0030	6.046e-05	0.0002	0	7.589e-05	2.144e-05	0.0023	0.0002	0.0006	0.0034	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1648.79	35	chr8	143726691	.	TCCTGCGCTCCGGCACGGGGGGCACCGGACTACC	T	1648.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.539;DP=298;ExcessHet=0;FS=5.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.87;ReadPosRankSum=2.38;SOR=0.36	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	5	0	1	0
chr8	143728452	143728452	C	T	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1009A:p.G337S	Amelogenesis imperfecta, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0505205386741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.325	0.13349	T	0.857	0.03438	T	0.296	0.32457	B	0.041	0.23986	B	0.019704	0.27197	N	0.240338	0.923769	0.36756	D	0.46	0.12951	N	2.41	0.15492	T	-1.37	0.33998	N	0.404	0.44474	-1.0267	0.21527	T	0.018	0.07470	T	10	0.08908826	0.15401	T	0.050521	0.64278	D	0.111	0.31313	0.141	0.04462	0.117191471859	0.11215	0.5518544722246911	0.55111	0.743732488609	0.63405	0.75629734993	0.75379	T	0.011102	0.09952	T	-0.152081	0.27988	T	-0.456231	0.27012	T	0.493790090084076	0.32402	T	.	.	.	0.08012984	0.18344	0.15430199	0.36221	0.08012984	0.18344	0.15430199	0.36220	-4.884	0.35555	T	.	.	0.096	0.15564	B	.	.	2.651308	0.34524	19.65	0.9967646950455632	0.78977	0.55852	0.29968	D	AEFDBCI	0.208385	0.33447	N	-0.295712433790127	0.29314	1.624471	-0.101078084642279	0.35348	2.043917	0.99999318003485	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.85	4.85	0.62375	1.030000	0.29760	.	.	0.585000	0.30472	0.688000	0.28513	1.000000	0.68203	0.977000	0.56843	0.0:0.891:0.0:0.109	8.950	0.34941	884	0.28482	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	301.83	43	chr8	143728452	.	C	T	301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=184;ExcessHet=0;FS=1.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.636;SOR=0.425	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,906	5	0	1	0
chr8	143729191	143729191	C	T	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon3:c.G580A:p.D194N	Amelogenesis imperfecta, type III, Autosomal dominant	0	1517	4	0	1	5	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00530019816674	.	0.000199681	0.0002	0	8.643e-05	0	0	6.016e-05	0	0.0013	0.0001811	28	154602	rs573911470	9.717e-05	9.714e-05	5.447e-05	0.0001	0.0012	8.379e-05	7.918e-05	0.0010	0.0009	2.987e-05	6.708e-05	0	0	0	0.0012	2.248e-05	9.936e-05	0.0012	4.596e-05	4.593e-05	3.855e-05	5.372e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.486	0.08091	T	0.309	0.19782	T	0.282	0.32132	B	0.039	0.23607	B	0.329260	0.14141	N	0.693899	0.993524	0.23696	N	0.175	0.09039	N	2.57	0.13552	T	-1.79	0.42191	N	0.367	0.40864	-1.0047	0.28547	T	0.018	0.07706	T	10	0.021614105	0.00521	T	0.005	0.13556	T	0.111	0.31313	0.499	0.58991	0.043077524339	0.03247	0.6126121247954278	0.61193	0.512335266044	0.49279	0.46539413929	0.34049	T	0.006224	0.05657	T	-0.603375	0.00139	T	-0.685034	0.06681	T	0.0340536051066237	0.02646	T	.	.	.	0.15666044	0.35342	0.14352663	0.34107	0.15666044	0.35342	0.14352663	0.34106	-11.162	0.80539	D	.	.	0.118	0.24123	B	.	.	2.827754	0.37270	20.5	0.99543450482193874	0.70648	0.24956	0.22553	N	AEFDGBCI	0.167654	0.29434	N	-0.539342687134472	0.20819	1.100368	-0.406470671071873	0.24806	1.360527	0.999999538006824	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	5.11	5.11	0.69188	0.704000	0.25336	.	.	0.599000	0.40250	0.007000	0.17678	0.999000	0.35428	0.568000	0.30603	0.0:1.0:0.0:0.0	17.873	0.88730	884	0.28482	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1844.83	41	chr8	143729191	.	C	T	1844.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.32;DP=364;ExcessHet=0;FS=2.829;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.395;SOR=0.957	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1410	5	0	1	0
chr8	143865396	143865396	C	A	exonic	EPPK1	.	stopgain	EPPK1:NM_031308:exon2:c.G7858T:p.E2620X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.225e-06	2.661e-05	0	7.669e-06	6.336e-05	0	0	.	.	0	0	0	0	0	0	0	0	6.336e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.924011	0.81125	27.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.117000	0.10681	.	.	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	31.53	.	chr8	143865396	.	C	A	31.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=52.75;MQRankSum=0.967;QD=10.51;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	4	0	1	1
chr8	143869817	143869817	T	C	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.A3437G:p.D1146G	.	9	1498	15	0	0	15	0.00498173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0850123823838	.	0.000199681	0.0004	0	0	0	0	0.0002	0	0.0018	0.0002458	38	154602	rs550193229	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0013	0.0012	0	0	0.0016	0	0	0.0017	8.953e-05	0.0005	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.903e-05	2.409e-05	0	0.0001	0.0014	0	0	0	0.0002	0.0009	0.0006	.	.	.	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.559902	0.31265	N	1.935	0.51832	L	.	.	.	.	.	.	0.137	0.13484	-0.4737	0.69594	T	0.246	0.61448	T	9	0.020823896	0.00487	T	0.085012	0.74444	D	.	.	0.417	0.45709	0.539021108785	0.53553	0.5878565971503928	0.58715	.	.	0.358269631863	0.19133	T	0.238216	0.60607	T	-0.297333	0.08914	T	-0.240408	0.50758	T	0.0564648110523214	0.06600	T	0.470053	0.13899	T	0.2669983	0.49771	0.33755985	0.59545	0.2669983	0.49770	0.33755985	0.59544	-4.816	0.34777	T	.	.	0.188	0.40473	B	.;.	.;.	3.571259	0.50303	22.9	0.99142544217980011	0.53573	0.98563	0.84133	D	AEFDBI	0.510188	0.53934	D	0.0667623417616852	0.44917	2.757148	0.0752599690186802	0.43308	2.635281	0.999999999882575	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	1.530000	0.35613	.	.	0.651000	0.53179	0.946000	0.32893	0.998000	0.33993	0.942000	0.48361	0.0:0.0:0.0:1.0	11.848	0.51673	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.002740	0.002941	0.000000	0.008621	0.000000	0.011364	0.08333	1013.83	62	chr8	143869817	.	T	C	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.22;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.56;SOR=0.715	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	0
chr8	143983707	143983707	C	G	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon7:c.G1918C:p.E640Q,PARP10:NM_032789:exon8:c.G1882C:p.E628Q	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.021724734783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.50676	D	0.069	0.43913	T	0.121	0.26708	B	0.035	0.22741	B	0.038449	0.24284	U	0.192298	0.999975	0.18612	N	2.175	0.60977	M	2.65	0.12676	T	-0.92	0.28290	N	0.209	0.24135	-1.0141	0.25625	T	0.021	0.08963	T	10	0.07924113	0.12724	T	0.021725	0.44537	T	0.010	0.01040	0.162	0.06618	0.319970858106	0.31615	0.11797040676303214	0.11724	0.616976147991	0.56145	0.281450331211	0.07695	T	0.008068	0.26942	T	-0.265485	0.12266	T	-0.619127	0.11253	T	0.199714690446854	0.20400	T	0.579642	0.20943	T	0.03561643	0.04227	0.029240828	0.01241	0.03561643	0.04226	0.029240828	0.01241	-4.7	0.33404	T	.	.	0.133	0.28750	B	.;.;.	.;.;.	1.379871	0.17910	13.44	0.97036660194201996	0.32093	0.27980	0.23428	N	AEFDGBCI	0.142058	0.26440	N	-0.90982981277919	0.10610	0.5079045	-0.964392550189288	0.10591	0.5343925	0.999582693689455	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	3.91	0.888	0.18340	-0.138000	0.10353	.	.	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.0:0.611:0.1744:0.2145	4.921	0.13224	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	519.83	39	chr8	143983707	.	C	G	519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.871;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,100,1209:.	5	0	1	0
chr8	143984248	143984248	G	A	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon5:c.C1678T:p.R560C,PARP10:NM_032789:exon6:c.C1642T:p.R548C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0276891072692	.	.	8.274e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs781787443	1.642e-05	1.642e-05	1.634e-05	1.65e-05	1.619e-05	1.111e-05	9.34e-06	1.012e-05	8.35e-06	0	0	0.0001	0	1.874e-05	0	1.619e-05	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.019	0.59159	D	0.997	0.70673	D	0.841	0.60228	P	0.541068	0.11536	N	0.729179	0.999361	0.21303	N	2.045	0.56016	M	2.84	0.10674	T	-2.77	0.65397	D	0.344	0.38541	-1.0438	0.16177	T	0.039	0.16806	T	10	0.18438965	0.33811	T	0.027689	0.50469	D	0.072	0.21020	0.409	0.44395	0.530160902827	0.52664	0.40213413301546846	0.40129	0.53408203819	0.50830	0.2816619277	0.07725	T	0.031563	0.45255	T	-0.155806	0.27407	T	-0.446095	0.28129	T	0.699567437171936	0.40698	D	0.848015	0.52922	T	0.20674428	0.42859	0.11204782	0.27033	0.20674428	0.42859	0.11204782	0.27033	-6.896	0.53269	T	.	.	0.129	0.28750	B	.;.;.	.;.;.	4.813952	0.78345	26.9	0.99903379986973972	0.97502	0.47397	0.27974	N	AEFDGBI	0.200273	0.32702	N	0.186631276734946	0.50558	3.244585	0.176264894810778	0.48550	3.069395	0.99999866967667	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.21	3.28	0.36691	1.897000	0.39430	.	.	0.674000	0.70861	0.777000	0.29437	0.964000	0.29435	0.991000	0.66497	0.0:0.1788:0.8212:0.0	11.749	0.51108	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1291.83	34	chr8	143984248	.	G	A	1291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.664;DP=260;ExcessHet=0;FS=4.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.823;SOR=0.477	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1073	5	0	1	0
chr8	144238834	144238834	G	C	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon14:c.G1417C:p.V473L,MROH1:NM_032450:exon15:c.G1417C:p.V473L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0111449406992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009164688	0.0002	0.0002	9.19e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	0	0	0	0	8.574e-06	0.0002	0.0014	5.252e-05	5.249e-05	1.285e-05	9.398e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	6.531e-05	0	0	0	0	0	0	0.0014	0.22	0.20078	T	0.131	0.34596	T	0.595	0.39190	P	0.079	0.28749	B	0.364089	0.13626	U	0.618824	0.936342	0.26920	N	0.945	0.23706	L	3.08	0.08460	T	-0.87	0.23590	N	0.16	0.17828	-0.9222	0.45252	T	0.009	0.03271	T	10	0.059112012	0.07055	T	0.011145	0.28456	T	0.057	0.16321	0.49	0.57573	0.043077524339	0.03247	0.30422064579376284	0.30335	0.211007222213	0.23601	0.559037387371	0.47132	T	0.011113	0.09959	T	-0.293137	0.09323	T	-0.658847	0.08344	T	0.103408798575401	0.12728	T	0.809719	0.46038	T	0.04221302	0.06361	0.05769873	0.10533	0.04221302	0.06361	0.05769873	0.10533	-4.638	0.32646	T	.	.	0.134	0.35267	B	.;.;.	.;.;.	1.081882	0.14648	11.21	0.97872184978455457	0.36540	0.46036	0.27671	N	AEFGI	0.097337	0.19635	N	-0.658586372237387	0.17211	0.8836776	-0.567619615442573	0.20339	1.095405	3.30364058440315E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.2	0.042	0.13533	0.700000	0.25278	2.066000	0.30419	0.604000	0.46097	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.4765:0.2068:0.3166:0.0	3.475	0.07146	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1296.83	34	chr8	144238834	.	G	C	1296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.585;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	5	0	1	0
chr8	144247603	144247603	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon29:c.G3017A:p.R1006Q,MROH1:NM_032450:exon31:c.G3044A:p.R1015Q	.	419	1065	37	1	0	39	0.0179806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00690737734917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936258637	0.0053	0.0055	0.0048	0.0057	0.0147	0.0052	0.0051	0.0113	0.0101	0.0006	0.0034	0.0253	5.565e-05	0.0006	0.0147	0.0056	0.0066	0.0055	0.0038	0.0038	0.0041	0.0036	0.0051	0.0036	0.0035	0.0047	0.0045	0.0010	0	0.0039	0.0297	0	0.0007	0	0.0051	0.0033	0.0043	0.459	0.09458	T	0.46	0.12597	T	0.026	0.19406	B	0.001	0.04355	B	0.687961	0.10201	N	0.814201	0.999988	0.24050	N	0.53	0.13656	N	3.35	0.05989	T	0.06	0.06253	N	0.105	0.09914	-0.9061	0.47320	T	0.009	0.03011	T	10	0.005995035	0.00135	T	0.006907	0.18289	T	0.019	0.03383	0.395	0.42099	0.043077524339	0.03247	0.2598633037543448	0.25900	0.249219304912	0.27497	0.220795512199	0.01356	T	0.005178	0.04625	T	-0.358869	0.04194	T	-0.753267	0.03360	T	0.0321912840008736	0.02337	T	0.832317	0.50011	T	0.053469077	0.10121	0.060648672	0.11584	0.053469077	0.10121	0.060648672	0.11584	-7.506	0.57653	D	.	.	0.063	0.01762	B	.;.;.	.;.;.	-0.171096	0.03241	0.546	0.92187150469917256	0.21554	0.04579	0.10227	N	AEFGI	0.056406	0.10426	N	-1.1014172102638	0.06618	0.3051744	-1.09753797663091	0.07748	0.3781383	4.68950002047965E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.51	-1.81	0.07456	-1.008000	0.03774	-2.122000	0.04180	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.5122:0.1825:0.3053:0.0	4.322	0.10463	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	.	.	.	.	.	.	.	.	0.08333	1013.83	66	chr8	144247603	.	G	A	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=238;ExcessHet=0;FS=5.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.122;SOR=1.44	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	5	0	1	0
chr8	144311740	144311740	C	G	exonic	HSF1	.	nonsynonymous SNV	HSF1:NM_005526:exon8:c.C764G:p.P255R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0336267536617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.101	0.38596	T	0.848	0.46844	P	0.806	0.58437	P	0.317462	0.14328	N	0.670270	0.994875	0.23423	N	2.28	0.64929	M	.	.	.	-1.71	0.40660	N	0.407	0.44761	-0.7841	0.56070	T	0.243	0.61166	T	9	0.40198365	0.55631	T	0.033627	0.55115	D	0.136	0.36778	0.747	0.87821	0.298199939746	0.29431	0.6439262590849925	0.64327	0.242549995712	0.26761	0.439696073532	0.30536	T	0.027924	0.49896	T	-0.0626062	0.42498	T	-0.327706	0.41724	T	0.715547566841686	0.41474	D	.	.	.	0.056793615	0.11220	0.098143965	0.23387	0.056793615	0.11219	0.098143965	0.23386	-5.96	0.45943	T	.	.	0.123	0.28892	B	.;.	.;.	3.033714	0.40645	21.2	0.99464674994888402	0.65996	0.63249	0.32031	D	AEFGBHCI	0.355638	0.44730	N	0.0311383048375782	0.43274	2.623706	-0.100983069984331	0.35352	2.04418	0.999999999999904	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	2.763000	0.47287	7.523000	0.59793	0.587000	0.30956	0.016000	0.19238	0.920000	0.28304	0.110000	0.18741	0.0:1.0:0.0:0.0	16.447	0.83777	946	0.12043	Vertebrate heat shock transcription factor, C-terminal domain;Vertebrate heat shock transcription factor, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1601.83	35	chr8	144311740	.	C	G	1601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.674;DP=357;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.671;SOR=0.642	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1612,0,1851	5	0	1	0
chr8	144467299	144467299	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon4:c.G427A:p.G143R,KIFC2:NM_145754:exon4:c.G427A:p.G143R	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00617896668494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.241e-05	2.3e-07	9e-08	.	.	0	2.241e-05	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.025	0.19245	B	0.016	0.17743	B	0.062349	0.22104	N	0.232382	0.999968	0.18878	N	1.04	0.26193	L	0.99	0.41750	T	-0.23	0.10656	N	0.27	0.30574	-1.0775	0.07841	T	0.065	0.26702	T	10	0.070088714	0.10149	T	0.006179	0.16200	T	0.036	0.09122	0.151	0.05441	0.477685322099	0.47399	0.34497487929206305	0.34411	.	.	0.481361985207	0.36244	T	0.006006	0.05450	T	-0.193625	0.21729	T	-0.515906	0.20711	T	0.391018390655518	0.28603	T	0.725627	0.33984	T	0.10881236	0.25726	0.16163358	0.37587	0.10881236	0.25726	0.16163358	0.37586	-4.075	0.24920	T	.	.	0.210	0.43855	B	.;.;.	.;.;.	3.152243	0.42675	21.6	0.9987471280012914	0.95160	0.08130	0.14097	N	AEFDBCI	0.047122	0.07902	N	-0.571687812625071	0.19810	1.039644	-0.489184431236938	0.22450	1.219471	0.999985877841279	0.51787	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	4.94	2.99	0.33673	0.765000	0.26211	6.071000	0.53257	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.736000	0.35301	0.0953:0.0:0.7315:0.1732	7.202	0.25061	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1579.83	127	chr8	144467299	.	G	A	1579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.906;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.123;SOR=0.719	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chr8	144506731	144506731	G	C	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon10:c.G1288C:p.E430Q,GPT:NM_001382664:exon11:c.G1288C:p.E430Q,GPT:NM_001382665:exon11:c.G1288C:p.E430Q	.	361	1159	2	0	0	2	0.000862069	0.9994	0.97	.	722953	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.267	.	0.0016	0.00119808	0.0042	0.0007	0.0005	0	0.0345	0.0045	0.0132	0.0002	0.0033182	513	154602	rs141505249	0.0027	0.0028	0.0028	0.0027	0.0029	0.0027	0.0026	0.0019	0.0019	0.0006	0.0006	0.0018	0	0.0291	0.0029	0.0020	0.0027	0.0004	0.0036	0.0036	0.0025	0.0047	0.0028	0.0033	0.0032	0.0025	0.0024	0.0003	0	0.0005	0.0023	0	0.0299	0.0102	0.0028	0.0024	0	0.217	0.19157	T	0.46	0.12597	T	0.152	0.28062	B	0.063	0.27082	B	0.003142	0.35359	N	0.270337	1	0.81001	D	1.24	0.30952	L	-2.66	0.90272	D	-0.56	0.17003	N	0.369	0.41063	-0.2006	0.77656	T	0.460	0.79055	T	9	0.006096512	0.00137	T	.	.	.	0.267	0.58126	.	.	0.877679714183	0.87648	0.6781288127690981	0.67751	0.0727935299996	0.08157	0.520881891251	0.41750	T	0.256475	0.62739	T	-0.358439	0.04219	T	-0.2907	0.45700	T	0.0107655674039457	0.00152	T	0.771423	0.40183	T	0.12665194	0.29659	0.06899347	0.14481	0.12665194	0.29659	0.06899347	0.14481	-3.157	0.11963	T	.	.	0.068	0.02733	B	.;.	.;.	6.015684	0.94348	34	0.99696113124538155	0.80316	0.91933	0.54578	D	AEFBCI	0.929443	0.91520	D	-0.011478143903325	0.41335	2.470638	0.132137555442886	0.46203	2.870084	0.999999999998892	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	1.772000	0.38182	11.444000	0.92776	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.005102	0.002725	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	798.83	35	chr8	144506731	.	G	C	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=204;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.205;SOR=0.407	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1352	5	0	1	0
chr8	144506797	144506797	G	C	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon10:c.G1354C:p.V452L,GPT:NM_001382664:exon11:c.G1354C:p.V452L,GPT:NM_001382665:exon11:c.G1354C:p.V452L	.	379	1141	2	0	0	2	0.000875657	.	.	.	722954	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	.	0.0016	0.00119808	0.0039	0.0006	0.0004	0	0.0284	0.0040	0.0118	0.0002	0.0034023	526	154602	rs147998249	0.0028	0.0028	0.0028	0.0027	0.0029	0.0027	0.0027	0.0019	0.0019	0.0005	0.0006	0.0018	0	0.0293	0.0029	0.0020	0.0027	0.0004	0.0036	0.0036	0.0025	0.0046	0.0028	0.0033	0.0032	0.0025	0.0024	0.0002	0	0.0005	0.0023	0	0.0297	0.0102	0.0028	0.0024	0	0.002	0.72154	D	0.005	0.72224	D	0.622	0.39964	P	0.208	0.37221	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	1.87	0.24085	T	-2.5	0.54382	D	0.645	0.65673	-0.7586	0.57482	T	0.089	0.34353	T	10	0.013264388	0.00282	T	.	.	.	0.275	0.59130	0.697	0.83406	0.464870050199	0.46114	0.9530430997849433	0.95288	0.157094954455	0.17741	0.713375151157	0.69082	T	0.650717	0.89398	D	-0.299421	0.08715	T	-0.205925	0.54084	T	0.0380550081823921	0.03341	T	0.978302	0.92360	D	0.5789397	0.71550	0.589173	0.76166	0.5789397	0.71551	0.589173	0.76167	-8.691	0.65687	D	.	.	0.866	0.80700	P	.;.	.;.	3.495789	0.48888	22.7	0.99735468936568328	0.83119	0.94852	0.62553	D	AEFBCI	0.957155	0.97616	D	0.457089573313862	0.64607	4.719015	0.428295564341139	0.63333	4.565122	0.999999999998892	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.54	4.54	0.55220	4.709000	0.61556	9.538000	0.80958	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.0:0.0:1.0:0.0	14.779	0.69377	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.010101	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1337.83	35	chr8	144506797	.	G	C	1337.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.071;DP=252;ExcessHet=0;FS=2.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.591;SOR=0.47	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1352	5	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	YES	138904	Rapadilino_syndrome|Baller-Gerold_syndrome|not_provided|Rothmund-Thomson_syndrome_type_2|not_specified	MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	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	0	0	1	0	0.005539	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	1556.83	122	chr8	144516364	.	G	A	1556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.197;DP=560;ExcessHet=0;FS=3.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.82;SOR=1.024	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	5	0	1	0
chr8	144522517	144522517	-	CCCGGC	exonic	LRRC24	.	nonframeshift insertion	LRRC24:NM_001024678:exon5:c.1499_1500insGCCGGG:p.G500_L501insPG	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0016	0.0014	0	0.0023	0	0.0011	0	0.0021	3.88e-05	6	154602	rs545249570	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0017	0.0001	0.0002	0.0003	0	0.0028	0.0001	0.0003	0.0009	0.0008	0.0008	0.0010	0.0006	0.0023	0.0007	0.0006	0.0019	0.0018	0.0023	0	0.0001	0	0.0002	0	0	0.0003	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	758.79	33	chr8	144522517	.	T	TCCCGGC	758.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.573;DP=213;ExcessHet=0;FS=3.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-1.65;SOR=0.33	GT:AD:DP:GQ:PL	0/1:18,21:39:99:769,0,673	5	0	1	0
chr8	144522890	144522890	G	C	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.C1127G:p.P376R	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.0059	0	0.0625	0	0	0	0	0.0074	0.0001035	16	154602	rs770798635	0.0001	0.0002	0.0001	0.0002	0.0039	0.0001	0.0001	0.0033	0.0031	0	0	0	0	0	0.0013	2.73e-05	0.0002	0.0039	0.0001	0.0001	5.161e-05	0.0002	0.0031	7.606e-05	6.306e-05	0.0019	0.0015	0	0	0	0	0	0	0.0034	2.951e-05	0	0.0031	0.35	0.12305	T	0.747	0.04860	T	0.304	0.35556	B	0.106	0.37471	B	0.521090	0.11741	N	0.788517	0.999988	0.18198	N	1.735	0.44892	L	0.69	0.54728	T	0.0	0.13418	N	0.364	0.40565	-1.0385	0.17771	T	0.081	0.32002	T	10	0.005275786	0.00115	T	.	.	.	0.028	0.06331	0.35	0.34760	0.373217324921	0.36936	0.3840948352754302	0.38324	0.346373398271	0.36544	0.741952419281	0.73260	T	0.009241	0.08422	T	-0.378093	0.03202	T	-0.320185	0.42554	T	0.0833735948274168	0.10413	T	0.435856	0.12628	T	0.024911964	0.01372	0.068234265	0.14223	0.024911964	0.01371	0.068234265	0.14223	-4.135	0.25804	T	.	.	0.073	0.05979	B	.;.	.;.	1.235032	0.16299	12.45	0.31544941231542462	0.01783	0.23753	0.22177	N	AEFDGBHCI	0.087291	0.17699	N	-0.847436031680339	0.12113	0.5884926	-0.911242191319867	0.11829	0.604999	0.999999999965303	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.15	1.19	0.20120	1.242000	0.32358	3.387000	0.38042	0.652000	0.53365	0.594000	0.27698	1.000000	0.68203	0.003000	0.05239	0.2114:0.0:0.4138:0.3748	3.245	0.06392	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	441.83	46	chr8	144522890	.	G	C	441.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.105;DP=138;ExcessHet=0;FS=2.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.552;SOR=1.179	GT:AD:DP:GQ:PL	0/0:19,0:19:48:0,48,720	5	0	1	0
chr8	144522960	144522960	C	T	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.G1057A:p.A353T	.	419	1101	1	0	1	2	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0851482909758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs192682217	1.403e-06	1.642e-05	0	2.825e-06	3.163e-05	2.3e-07	9e-08	.	.	3.163e-05	0	0	0	0	0	9.082e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.499	0.11263	T	0.054	0.22658	B	0.004	0.10090	B	0.176964	0.17210	N	0.611193	1	0.81001	D	-0.865	0.01458	N	-0.23	0.66652	T	0.25	0.04456	N	0.104	0.09349	-1.0241	0.22377	T	0.072	0.29195	T	10	0.041754693	0.02860	T	0.085148	0.74473	D	0.043	0.11576	0.291	0.25241	0.263709349026	0.25991	0.22306667276631686	0.22221	0.326545381621	0.34798	0.691911637783	0.65981	T	0.001728	0.01148	T	-0.135907	0.30542	T	-0.432998	0.29594	T	0.222983166575432	0.21612	T	0.817418	0.47426	T	0.037638497	0.04862	0.07198795	0.15479	0.037638497	0.04862	0.07198795	0.15479	-3.903	0.22348	T	.	.	0.076	0.05890	B	.;.	.;.	2.222589	0.28365	17.77	0.93398898676597653	0.23156	0.58864	0.30758	D	ALL	0.064459	0.12517	N	-0.657663427973226	0.17238	0.8852962	-0.442373535944399	0.23765	1.29778	0.999999998946365	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.73	2.73	0.31266	-0.411000	0.07205	0.512000	0.19089	0.540000	0.25189	0.000000	0.06391	0.106000	0.22736	0.968000	0.53726	0.0:0.6354:0.0:0.3646	4.919	0.13213	882	0.29131	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.83	55	chr8	144522960	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.093;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=0.885;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1092	5	0	1	0
chr8	144846102	144846102	C	T	exonic	ZNF7	.	nonsynonymous SNV	ZNF7:NM_001282796:exon5:c.C371T:p.S124L,ZNF7:NM_001330623:exon5:c.C404T:p.S135L	.	418	1097	6	1	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00344693913937	.	0.00179712	0.0032	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs377425729	0.0005	0.0005	0.0003	0.0007	0.0077	0.0005	0.0004	0.0072	0.0070	0.0004	0	0	0	0	0	1.483e-05	0.0005	0.0077	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	0.0004	0	0	0	0	0	0	0	0	0.0091	0.431	0.17069	T	0.155	0.31936	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-1.17	0.29933	N	0.21	0.27435	-0.9430	0.42137	T	0.001	0.00438	T	8	0.0038035214	0.00071	T	0.003447	0.07786	T	0.078	0.22779	0.252	0.19067	0.230578612272	0.22657	.	.	.	.	.	.	.	0.011662	0.10375	T	-0.708389	0.00033	T	-0.785482	0.02292	T	0.00609401466278623	0.00067	T	0.558744	0.19484	T	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.133	0.29860	B	.;.	.;.	0.032812	0.04515	1.215	0.86244381660808489	0.16407	0.00527	0.02446	N	AEFDBHI	0.028466	0.02513	N	-1.42668104618604	0.02406	0.1062217	-1.5882582289623	0.01727	0.07850494	0.999999613326658	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.18	-2.35	0.06302	-0.108000	0.10827	-3.779000	0.02542	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2088:0.2408:0.2081:0.3423	0.199	0.00133	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2907.04	35	chr8	144846102	.	C	T	2907.04	.	AC=2;AF=0.167;AN=12;DP=273;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.26;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1253	5	1	0	0
chr8	144932107	144932107	C	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.G680A:p.R227H,ZNF16:NM_001029976:exon4:c.G680A:p.R227H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0035	0.00519169	0.0012	0.0107	0.0007	0.0015	0	0.0001	0.0011	0	0.0011513	178	154602	rs3735786	0.0004	0.0004	0.0005	0.0004	0.0084	0.0004	0.0004	0.0076	0.0072	0.0084	0.0005	0	0.0049	1.873e-05	0.0002	6.115e-05	0.0007	8.117e-05	0.0026	0.0027	0.0027	0.0026	0.0088	0.0024	0.0023	0.0081	0.0078	0.0088	0	0.0014	0	0.0021	0	0	2.94e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999502	0.21084	N	-3.29	0.00006	N	3.6	0.04494	T	5.41	0.00016	N	0.084	0.06059	-0.9599	0.39199	T	0.002	0.00497	T	9	0.0046982765	0.00099	T	.	.	.	0.059	0.16972	.	.	0.136095386433	0.13204	0.05321598686000942	0.05263	0.0904167817641	0.10200	0.494114369154	0.38011	T	0.024913	0.18734	T	-0.703014	0.00035	T	-0.774645	0.02618	T	0.00537902858131219	0.00058	T	0.181182	0.01822	T	0.019252498	0.00453	0.041308478	0.04664	0.019252498	0.00453	0.041308478	0.04664	1.335	0.00096	T	.	.	0.073	0.05017	B	.;.;.	.;.;.	-0.482388	0.01923	0.162	0.11711865641006632	0.00184	0.01639	0.05276	N	AEFDGBHI	0.017661	0.00479	N	-1.52948560234588	0.01658	0.07254862	-1.28783669248074	0.04594	0.2170697	0.79373137816891	0.24060	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.674467	0.66132	0	.	.	4.01	2.84	0.32241	0.704000	0.25336	0.093000	0.14542	-1.545000	0.00970	0.032000	0.20554	0.237000	0.23824	0.022000	0.11911	0.0:0.0956:0.0:0.9044	8.634	0.33098	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1510.83	37	chr8	144932107	.	C	T	1510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.336;DP=311;ExcessHet=0;FS=1.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.228;SOR=0.565	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr9	117212	117212	A	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.T908G:p.L303R	.	478	1043	1	0	0	1	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	.	.	0.00119808	0.0018	0	0	0	0	0	0.0015	0.0105	3.88e-05	6	154602	rs531268742	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0005	0.0090	0.0087	5.987e-05	0	0	5.038e-05	0	0.0002	8.095e-06	0.0006	0.0095	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	9.633e-05	0	0	0	0	0	0	0	0	0.0089	0.011	0.55530	D	0.034	0.52727	D	0.608	0.39540	P	0.088	0.29688	B	0.164729	0.17553	U	0.295501	0.974107	0.25510	N	1.04	0.26193	L	-3.57	0.94904	D	-0.97	0.25770	N	0.137	0.13484	-0.2944	0.75141	T	0.524	0.82278	D	10	0.0096609	0.00217	T	.	.	.	0.312	0.63375	.	.	0.409398589964	0.40557	0.325410962784523	0.32454	.	.	0.720670461655	0.70145	T	0.005694	0.05139	T	-0.289397	0.09697	T	-0.180514	0.56476	T	0.0172268013217271	0.00465	T	0.408959	0.10549	T	0.13297994	0.30946	0.13995002	0.33375	0.13297994	0.30946	0.13995002	0.33374	-2.948	0.09632	T	.	.	0.052	0.00229	B	.	.	1.018425	0.13976	10.54	0.98474057279831506	0.41896	0.19550	0.20704	N	AEFBI	0.092392	0.18706	N	-0.788703953501366	0.13604	0.6713651	-0.862135239819585	0.12996	0.6717449	5.91697270581489E-4	0.07414	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.41	-0.468	0.11539	-0.216000	0.09271	-0.801000	0.07374	-0.225000	0.07834	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.6292:0.221:0.1498:0.0	3.716	0.07969	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001832	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004274	0.08333	767.83	36	chr9	117212	.	A	C	767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.078;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.77;MQRankSum=-1.387;QD=12.59;ReadPosRankSum=0.418;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1219	5	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	576.35	25	chr9	117371	.	C	*	576.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=160;ExcessHet=0.1336;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=49.09;MQRankSum=-3.153;QD=9.3;ReadPosRankSum=-0.221;SOR=0.626	GT:AD:DP:GQ:PL	0/0:14,0:23:99:302,344,735	5	0	1	0
chr9	340265	340265	C	G	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon13:c.C1419G:p.H473Q,DOCK8:NM_001193536:exon13:c.C1419G:p.H473Q,DOCK8:NM_203447:exon14:c.C1623G:p.H541Q	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	319005	not_specified|Combined_immunodeficiency_due_to_DOCK8_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0059149907284	0.0002	.	0.0003	0	0.0004	0	0	0.0002	0.0011	0.0009	0.0002458	38	154602	rs200201944	0.0002	0.0002	0.0001	0.0003	0.0014	0.0002	0.0002	0.0009	0.0009	5.974e-05	0.0007	0.0006	2.519e-05	5.616e-05	0.0014	9.263e-05	0.0003	0.0011	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0006	0	0	0	0.0001	0	0.0012	0.041	0.41915	D	0.032	0.53426	D	0.05	0.22331	B	0.011	0.15521	B	0.001899	0.37740	N	0.275554	0.814	0.34681	D	2.2	0.62015	M	1.38	0.34050	T	-0.01	0.07155	N	0.237	0.28264	-0.9910	0.32347	T	0.070	0.28511	T	10	0.06831482	0.09645	T	0.005915	0.15400	T	0.032	0.07718	0.23	0.15705	0.547979623877	0.54453	0.4296946275861968	0.42886	0.0430764191683	0.04641	0.387550532818	0.23323	T	0.09035	0.38566	T	-0.496618	0.00597	T	-0.550888	0.17240	T	0.0312500582983776	0.02186	T	0.747625	0.36808	T	0.05336474	0.10088	0.06791616	0.14115	0.05336474	0.10087	0.06791616	0.14115	-5.429	0.41197	T	0.1701007525784645	0.21368	0.128	0.33039	B	.;.;.	.;.;.	2.641993	0.34377	19.61	0.97963772291061835	0.37195	0.85703	0.44865	D	AEFBI	0.333871	0.43282	N	-0.13054634226043	0.36066	2.079815	0.00583394984712146	0.39985	2.379214	0.330698143434762	0.19482	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	3.59	0.40253	0.585000	0.23580	3.205000	0.36771	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.888000	0.42677	0.1451:0.6663:0.0:0.1886	6.390	0.20786	854	0.34840	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	666.83	33	chr9	340265	.	C	G	666.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.394;DP=225;ExcessHet=0;FS=1.11;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.225;SOR=0.881	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.08333	977.83	35	chr9	894044	.	A	G	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.562;DP=283;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.673;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	5	0	1	0
chr9	916806	916806	G	A	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon4:c.G392A:p.R131K,DMRT1:NM_021951:exon4:c.G866A:p.R289K	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0105357618066	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs757552219	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.042	0.92824	D	0.994	0.66517	D	0.97	0.72226	D	0.001711	0.38216	N	0.220210	0.978396	0.39458	D	3.055	0.86842	M	1.54	0.30133	T	-1.85	0.49352	N	0.796	0.83473	-0.6025	0.64714	T	0.236	0.60270	T	10	0.74664384	0.75336	D	0.010536	0.27195	T	0.342	0.66392	0.395	0.42099	0.697019047537	0.69440	0.5278139917731289	0.52705	0.744429683914	0.63434	0.631880283356	0.57412	T	0.398291	0.75643	T	-0.100141	0.36401	T	-0.107323	0.62825	T	0.823207020759583	0.48012	D	0.854315	0.59649	D	0.2726692	0.50336	0.265271	0.52358	0.2726692	0.50336	0.265271	0.52357	-4.455	0.30296	T	0.7568505592569272	0.83879	0.331	0.55292	B	.;.	.;.	4.889666	0.80265	27.3	0.99658965202467764	0.77820	0.95284	0.64125	D	AEFBI	0.664191	0.63344	D	0.864269836658717	0.89903	10.16793	0.821864649962973	0.91272	10.803	0.996190791824862	0.34585	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	6.298000	0.72739	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.819	0.88557	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2987.83	36	chr9	916806	.	G	A	2987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.826;DP=363;ExcessHet=0;FS=1.892;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.291;SOR=0.855	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1280	5	0	1	0
chr9	2170426	2170426	G	A	exonic	SMARCA2	.	nonsynonymous SNV	SMARCA2:NM_001289396:exon29:c.G4207A:p.V1403M,SMARCA2:NM_003070:exon29:c.G4207A:p.V1403M	Nicolaides-Baraitser syndrome, Autosomal dominant	1	1518	2	1	0	4	0.00131579	.	.	.	307904	SMARCA2-related_disorder|Inborn_genetic_diseases|Nicolaides-Baraitser_syndrome|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358,Orphanet:3051|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0159189794543	0.0002	0.000998403	0.0009	9.61e-05	0.0003	0.0002	0	0.0003	0	0.0048	0.0007697	119	154602	rs143797398	0.0005	0.0005	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	2.987e-05	0.0004	0.0013	0.0001	0	0.0003	0.0002	0.0006	0.0054	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	7.217e-05	0	0.0001	0.0017	0.0002	9.416e-05	0	0.0002	0	0.0046	0.166	0.34621	T	0.198	0.60337	T	0.979	0.59044	D	0.289	0.40655	B	0.367940	0.13571	N	0.604609	1	0.81001	D	1.245	0.31408	L	1.41	0.33412	T	-0.06	0.09627	N	0.237	0.27673	-1.1070	0.03340	T	0.033	0.14247	T	10	0.007028818	0.00160	T	0.015919	0.36914	T	0.060	0.17295	.	.	0.595572240033	0.59236	0.20220676420543485	0.20137	0.396056250186	0.40723	0.708838522434	0.68426	T	0.204515	0.56330	T	-0.482615	0.00714	T	-0.465066	0.26050	T	0.0236588715979583	0.01103	T	0.570643	0.20320	T	0.03879622	0.05237	0.053203203	0.08915	0.032384936	0.03253	0.057778113	0.10561	-4.193	0.26650	T	.	.	0.101	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.192898	0.63207	24.6	0.98530610126434925	0.42582	0.65897	0.32892	D	AEFBCI	0.252427	0.37212	N	-0.134834754371457	0.35882	2.066764	-0.0499348298662012	0.37493	2.195999	0.999963703605244	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.22	3.32	0.37134	2.422000	0.44352	7.560000	0.60459	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1063:0.0:0.8937:0.0	8.320	0.31287	940	0.13648	Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain;Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	777.83	61	chr9	2170426	.	G	A	777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.1;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1134	5	0	1	0
chr9	2804375	2804375	T	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon18:c.A1903G:p.T635A	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0023533795346	7.7e-05	0.000199681	0.0004	9.623e-05	0	0	0	7.499e-05	0.0011	0.0022	0.0002846	44	154602	rs145258798	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	0	4.474e-05	3.827e-05	0	0	0.0010	7.285e-05	0.0002	0.0022	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.215e-05	0	0	0	0	0	0	0.0002	0	0.0021	0.528	0.07071	T	0.763	0.04587	T	0.0	0.02946	B	0.001	0.04355	B	0.475559	0.12226	N	0.767557	1	0.08975	N	.	.	.	2.83	0.10771	T	-0.9	0.24244	N	0.051	0.02272	-0.9301	0.44124	T	0.008	0.02801	T	10	0.005516112	0.00122	T	0.002353	0.04562	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.15190030773579874	0.15112	0.00355455249364	0.00305	0.287665784359	0.08582	T	0.009937	0.09012	T	-0.71134	0.00031	T	-0.813582	0.01586	T	0.00465849641814126	0.00050	T	0.481052	0.14533	T	0.026510715	0.01718	0.026068397	0.00678	0.026510715	0.01718	0.026068397	0.00678	-2.692	0.07236	T	.	.	0.064	0.01738	B	.	.	0.769179	0.11391	8.004	0.89023185680342687	0.18448	0.10614	0.16071	N	AEFBI	0.034910	0.04405	N	-1.05492114181339	0.07491	0.3481819	-0.903482789064285	0.12012	0.615437	0.999580658737064	0.40607	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	0.076	0.13715	-0.405000	0.07258	-0.114000	0.11796	0.665000	0.62972	0.338000	0.25657	0.030000	0.21233	0.996000	0.76049	0.0:0.3324:0.3371:0.3305	4.683	0.12126	848	0.35897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	289.83	37	chr9	2804375	.	T	C	289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.365;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	5	0	1	0
chr9	3225197	3225197	G	C	exonic	RFX3	.	nonsynonymous SNV	RFX3:NM_001282116:exon17:c.C2095G:p.L699V,RFX3:NM_001377999:exon18:c.C2158G:p.L720V,RFX3:NM_134428:exon18:c.C2095G:p.L699V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00835186018555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.822	0.03806	T	0.063	0.23376	B	0.026	0.20792	B	0.000016	0.62929	D	0.070275	0.824151	0.34820	D	0.785	0.19527	N	0.35	0.58029	T	-0.08	0.08187	N	0.212	0.23632	-1.0887	0.05752	T	0.076	0.30429	T	10	0.058725	0.06948	T	0.008352	0.22105	T	0.048	0.13305	0.178	0.08503	0.0675242888579	0.06100	0.22380602583561743	0.22295	0.20912996966	0.23382	0.619146466255	0.55609	T	0.116113	0.43520	T	-0.118134	0.33430	T	-0.407468	0.32517	T	0.315888404846191	0.25655	T	0.831217	0.49813	T	0.034553353	0.03900	0.04894143	0.07375	0.034553353	0.03900	0.04894143	0.07375	-2.571	0.06286	T	.	.	0.062	0.01491	B	.;.	.;.	3.827017	0.55292	23.6	0.91261780743241228	0.20520	0.93970	0.59723	D	AEFDI	0.561483	0.56946	D	-0.453433814525086	0.23624	1.269917	-0.238998041681517	0.30153	1.695272	0.971982173326987	0.29333	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.670209	0.66018	0	.	.	5.7	3.87	0.43823	4.265000	0.58663	6.760000	0.56533	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1384:0.0:0.7298:0.1318	7.869	0.28719	829	0.39537	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	473.83	35	chr9	3225197	.	G	C	473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.174;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.731;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	5	0	1	0
chr9	5361077	5361077	C	T	splicing	PLGRKT	NM_018465:exon5:c.322+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.88e-07	4.804e-06	1.593e-06	0	1.061e-06	0	0	.	.	0	0	0	0	0	0	1.061e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445956	0.92298	D	0.402809	0.92203	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.244460	0.88051	29.5	0.99523063493214003	0.69346	0.95451	0.64773	D	AEFBI	.	.	.	1.11973412876572	0.98483	18.40675	0.965662740892542	0.97845	16.88146	0.999999999999253	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.078618	0.02440	0	0.092715	0.02821	0	0.981726	0.87622	5.62	5.62	0.85714	5.996000	0.70309	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:1.0:0.0:0.0	19.300	0.94129	900	0.24599	.	.	.	.	.	.	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	48.83	36	chr9	5361077	.	C	T	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.205;DP=198;ExcessHet=0;FS=47.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.24;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:51:.:.:0,51,630:.	5	0	1	0
chr9	5361078	5361078	C	G	exonic	PLGRKT	.	nonsynonymous SNV	PLGRKT:NM_018465:exon5:c.G322C:p.G108R	.	.	.	.	.	.	.	.	0.6978	0.508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0269434286985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.125	0.35330	T	0.81	0.45366	P	0.361	0.43233	B	0.000006	0.62929	D	0.107097	0.994667	0.42368	D	2.65	0.77586	M	.	.	.	-1.28	0.32185	N	0.229	0.25745	-0.8169	0.54127	T	0.200	0.55625	T	8	0.22344047	0.39122	T	0.026943	0.49802	D	0.116	0.32463	0.372	0.38340	0.200317383148	0.19677	0.6948187419262146	0.69422	0.00371297511254	0.00321	0.415260434151	0.27183	T	0.016131	0.13395	T	-0.00531633	0.50918	T	-0.245413	0.50269	T	0.602801203727722	0.36511	D	0.889911	0.62289	D	0.060877305	0.12541	0.08912161	0.20822	0.060877305	0.12541	0.08912161	0.20821	-0.942	0.00937	T	.	.	0.134	0.29032	B	.	.	3.256464	0.44521	22.0	0.97827082792533704	0.36233	0.86257	0.45503	D	AEFBI	0.460789	0.51082	N	0.029802109406783	0.43214	2.618748	0.024762218448693	0.40868	2.446	0.99990049510247	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.62	2.79	0.31792	1.512000	0.35420	.	.	-0.864000	0.02607	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.699:0.0:0.301	9.092	0.35776	900	0.24599	.	.	.	.	.	.	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	48.83	36	chr9	5361078	.	C	G	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.531;DP=207;ExcessHet=0;FS=47.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.27;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:94:.:.:0,94,872:.	5	0	1	0
chr9	5462959	5462959	G	A	exonic	CD274	.	nonsynonymous SNV	CD274:NM_001267706:exon3:c.G178A:p.V60I,CD274:NM_001314029:exon4:c.G520A:p.V174I,CD274:NM_014143:exon4:c.G520A:p.V174I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00964429702532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.24372	T	0.565	0.18732	T	0.0	0.02946	B	0.001	0.04355	B	0.865356	0.08864	N	0.928689	1	0.08975	N	0.4	0.12274	N	-0.98	0.75789	T	-0.33	0.12472	N	0.074	0.04790	-1.0112	0.26541	T	0.167	0.50648	T	10	0.042622924	0.03030	T	0.009644	0.25199	T	0.100	0.28662	0.424	0.46857	0.284539287134	0.28064	0.08487441078219117	0.08421	0.353760334554	0.37172	0.302611470222	0.10792	T	0.241856	0.61048	T	-0.206373	0.19893	T	-0.534217	0.18867	T	0.0285242919997252	0.01765	T	0.654634	0.26482	T	0.08965019	0.20954	0.06398514	0.12757	0.08965019	0.20953	0.06398514	0.12757	-4.132	0.26388	T	.	.	0.075	0.06024	B	.;.	.;.	0.440693	0.08107	4.837	0.91480695311028504	0.20753	0.12295	0.17181	N	AEFGBCI	0.035022	0.04437	N	-0.935678265543211	0.10016	0.4766967	-0.894531854186726	0.12222	0.6274804	0.999910112917045	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.86	-0.924	0.09930	0.296000	0.18839	.	.	0.676000	0.76740	0.108000	0.22953	0.000000	0.08366	0.982000	0.59238	0.3642:0.1383:0.3562:0.1414	1.265	0.01887	852	0.35056	.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1437.83	39	chr9	5462959	.	G	A	1437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.549;DP=292;ExcessHet=0;FS=1.503;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.201;SOR=0.534	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1276	5	0	1	0
chr9	5832742	5832742	-	GAGCTGCTGCAGCGA	exonic	ERMP1	.	nonframeshift insertion	ERMP1:NM_024896:exon1:c.285_286insTCGCTGCAGCAGCTC:p.L95_V96insSLQQL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036107758	6.694e-05	6.636e-05	5.286e-05	8.138e-05	0.0001	5.539e-05	5.126e-05	5.212e-05	4.775e-05	3.651e-05	3.27e-05	8.393e-05	0.0001	2.937e-05	0	6.486e-05	0.0001	6.667e-05	3.286e-05	3.284e-05	3.855e-05	2.69e-05	5.882e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	2.412e-05	0	0	0	0	0	0	5.882e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	372.79	17	chr9	5832742	.	C	CGAGCTGCTGCAGCGA	372.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=187;ExcessHet=0;FS=5.664;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.921;SOR=1.777	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1024	5	0	1	0
chr9	6330982	6330982	T	C	exonic	TPD52L3	.	nonsynonymous SNV	TPD52L3:NM_001001874:exon2:c.T374C:p.I125T	.	455	1065	2	0	0	2	0.000938086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00440880878892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.531e-06	7.524e-06	8.174e-06	6.882e-06	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	2.526e-05	0	0.0002	6.298e-06	3.314e-05	0	6.563e-06	6.561e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.218	0.30213	B	0.104	0.31021	B	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.25018	T	-2.21	0.49684	N	0.093	0.07262	-1.0179	0.24398	T	0.043	0.18326	T	8	0.117258936	0.22140	T	0.004409	0.10781	T	0.038	0.09825	0.643	0.78010	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.326225	0.06401	T	-0.706376	0.05484	T	0.157102164567287	0.17655	T	0.275172	0.04698	T	.	.	.	.	.	.	.	.	-4.619	0.32410	T	.	.	0.202	0.42578	B	.	.	1.454440	0.18762	13.91	0.89152670283919266	0.18554	0.07990	0.13971	N	AEFDBCI	0.035233	0.04498	N	-0.747133438099413	0.14711	0.7351443	-0.851770989011324	0.13245	0.6860404	0.938597747696079	0.27350	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	3.66	1.3	0.20778	1.344000	0.33547	1.432000	0.26455	0.586000	0.30580	0.028000	0.20300	0.171000	0.23343	0.003000	0.05239	0.0:0.2435:0.0:0.7565	5.241	0.14789	670	0.60992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1586.83	120	chr9	6330982	.	T	C	1586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.972;DP=325;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.458;SOR=0.59	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr9	6553429	6553429	G	C	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon20:c.C2396G:p.T799S	Glycine encephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1909586	Glycine_encephalopathy	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.0718770584642	.	.	4.119e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs772015252	2.395e-05	2.394e-05	1.362e-05	3.438e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.18308	T	0.16	0.31427	T	0.07	0.23866	B	0.018	0.18489	B	0.000000	0.84330	N	0.048817	0.999999	0.58761	D	0.045	0.08109	N	-4.6	0.97849	D	-0.9	0.24244	N	0.699	0.70351	0.469	0.90102	D	0.804	0.93386	D	10	0.23110601	0.40077	T	0.071877	0.71387	D	0.348	0.66956	0.285	0.24280	0.944151601113	0.94356	0.8561111430446099	0.85574	0.0467582809392	0.05084	0.468905568123	0.34530	T	0.285794	0.65858	T	-0.0424881	0.45577	T	0.0117108	0.71092	D	0.139483683762711	0.16230	T	0.969503	0.89043	D	0.26949129	0.50022	0.15574133	0.36493	0.26949129	0.50021	0.15574133	0.36492	-5.035	0.37218	T	0.12362965076534467	0.12010	0.176	0.38462	B	.;.;.;.	.;.;.;.	2.280586	0.29163	18.03	0.86821972999672092	0.16796	0.93468	0.58298	D	AEFGBCI	0.919938	0.89118	D	-0.335512699274866	0.27809	1.528693	-0.249453906034163	0.29791	1.671918	0.999999999050553	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.375	0.06713	1	.	.	4.84	3.91	0.44383	7.780000	0.84290	9.958000	0.82775	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0:0.1436:0.8564:0.0	14.987	0.71008	768	0.49510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2239.83	33	chr9	6553429	.	G	C	2239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=356;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.083;MQ=59.96;MQRankSum=0.92;QD=12.51;ReadPosRankSum=0.658;SOR=0.97	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1467	5	0	1	0
chr9	8485906	8485906	G	T	exonic	PTPRD	.	nonsynonymous SNV	PTPRD:NM_001377958:exon18:c.C2911A:p.L971I,PTPRD:NM_001378058:exon18:c.C2911A:p.L971I,PTPRD:NM_002839:exon28:c.C2911A:p.L971I	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00785079735568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.229	0.25210	T	0.464	0.36423	P	0.21	0.37304	B	0.000700	0.42383	D	0.251384	1	0.81001	D	-0.005	0.05143	N	0.42	0.56937	T	0.01	0.06868	N	0.316	0.36464	-1.0397	0.17404	T	0.066	0.27225	T	9	0.1664359	0.31081	T	0.007851	0.20824	T	0.085	0.24743	0.573	0.69695	0.117191471859	0.11215	0.1687109400099862	0.16791	.	.	0.39262381196	0.24038	T	0.061759	0.31738	T	-0.171711	0.24977	T	-0.484428	0.23976	T	0.439339339733124	0.30405	T	.	.	.	0.09378021	0.22035	0.07347126	0.15969	0.09378021	0.22035	0.07347126	0.15969	-2.538	0.06046	T	.	.	0.074	0.05535	B	.;.;.	.;.;.	3.320432	0.45663	22.2	0.9584495442555675	0.27976	0.90099	0.51015	D	AEFGBCI	0.824266	0.74420	D	-0.189706462898391	0.33562	1.905484	0.0229127724098159	0.40781	2.439338	0.949751566517376	0.27861	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.48	3.63	0.40741	5.515000	0.66765	7.481000	0.59259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1421:0.0:0.8579:0.0	11.788	0.51326	610	0.67008	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1463.83	81	chr9	8485906	.	G	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.11;DP=268;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.71;SOR=1.075	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1068	5	0	1	0
chr9	15874587	15874587	T	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon23:c.T3548G:p.L1183R,CCDC171:NM_173550:exon24:c.T3524G:p.L1175R,CCDC171:NM_001348002:exon25:c.T3269G:p.L1090R	.	429	1031	59	3	0	65	0.0305595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0051	0.00678914	0.0095	0.0007	0.0044	0.0002	0.0047	0.0090	0.0166	0.0271	0.0091784	1419	154602	rs149814894	0.0092	0.0093	0.0086	0.0099	0.0278	0.0091	0.0091	0.0269	0.0265	0.0012	0.0041	0.0207	2.55e-05	0.0037	0.0173	0.0085	0.0093	0.0278	0.0067	0.0067	0.0062	0.0072	0.0276	0.0064	0.0062	0.0238	0.0224	0.0014	0	0.0044	0.0213	0.0004	0.0046	0.0272	0.0090	0.0081	0.0276	0.089	0.32141	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000020	0.62929	D	0.000000	0.994351	0.42251	D	2.095	0.58118	M	2.11	0.19860	T	-1.04	0.27259	N	0.91	0.91162	-0.9070	0.47215	T	0.142	0.46220	T	10	0.008025855	0.00182	T	.	.	.	0.224	0.52174	.	.	0.154104182512	0.14974	0.45066847768622825	0.44984	.	.	0.552870512009	0.46263	T	0.050963	0.28745	T	-0.161557	0.26520	T	0.0147549	0.71290	D	0.0191352506970154	0.00621	T	0.824018	0.48536	T	0.4105033	0.61452	0.33814338	0.59596	0.4105033	0.61453	0.33814338	0.59595	-5.374	0.40669	T	.	.	0.676	0.71974	P	.	.	4.848866	0.79229	27.1	0.99786180405727065	0.87219	0.90879	0.52434	D	AEFBCI	0.686121	0.64790	D	0.279908937397231	0.55131	3.677424	0.400830299741183	0.61618	4.364282	0.998148247876127	0.36487	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.638833	0.57524	0	.	.	5.74	5.74	0.90070	5.177000	0.64870	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.105	0.81025	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.010101	0.017663	0.032164	0.000000	0.017241	0.006098	0.015152	0.08333	845.83	35	chr9	15874587	.	T	G	845.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.373;SOR=0.646	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1291	5	0	1	0
chr9	18753507	18753507	C	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon16:c.C2216T:p.P739L	.	426	1088	7	1	0	9	0.00411899	0.0004	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	.	0.00519169	0.0035	0.0001	0.0003	0.0003	0	7.47e-05	0.0013	0.0252	0.0025485	394	154602	rs201487423	0.0013	0.0013	0.0007	0.0020	0.0214	0.0013	0.0013	0.0206	0.0203	5.99e-05	0.0001	0	0.0001	0	0.0006	2.431e-05	0.0012	0.0214	0.0007	0.0007	0.0004	0.0011	0.0228	0.0006	0.0006	0.0194	0.0181	0	0	0	0	0.0006	0	0	0	0	0.0228	0.191	0.21066	T	0.179	0.29540	T	0.002	0.09854	B	0.001	0.04355	B	0.864745	0.08868	U	0.752562	0.987119	0.40538	D	1.515	0.38264	L	0.31	0.58613	T	-1.56	0.37759	N	0.192	0.21056	-1.0329	0.19522	T	0.113	0.40445	T	10	0.0152436495	0.00320	T	.	.	.	0.080	0.23350	0.626	0.76141	0.281780670237	0.27795	0.16641864115529284	0.16561	0.0673903946155	0.07535	0.27222019434	0.06432	T	0.036446	0.24107	T	-0.544454	0.00315	T	-0.538591	0.18436	T	0.0319220872814423	0.02294	T	0.570643	0.20320	T	0.035056468	0.04053	0.042516604	0.05083	0.035056468	0.04053	0.042516604	0.05082	-3.583	0.17611	T	.	.	0.068	0.02733	B	.	.	1.676722	0.21372	15.17	0.7503823108182146	0.10922	0.78066	0.38462	D	AEFBI	0.279142	0.39326	N	-0.650706284221537	0.17440	0.8974277	-0.536271080033724	0.21170	1.144045	0.991393438800045	0.32474	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.6	-1.84	0.07387	0.923000	0.28364	-1.848000	0.04617	-2.775000	0.00191	1.000000	0.71638	0.000000	0.08366	0.550000	0.30174	0.5643:0.1898:0.0:0.2458	5.928	0.18360	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	943.83	61	chr9	18753507	.	C	T	943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.566;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	5	0	1	0
chr9	20923697	20923697	C	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon24:c.C2785G:p.L929V,FOCAD:NM_001375570:exon24:c.C2785G:p.L929V,FOCAD:NM_001375567:exon25:c.C2890G:p.L964V,FOCAD:NM_017794:exon27:c.C2890G:p.L964V	.	432	1073	12	1	4	18	0.00648148	.	.	.	2988248	FOCAD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.426	.	0.0005	0.0113818	0.0060	0.0003	0.0010	0.0305	0	0.0001	0.0102	0.0266	0.0053816	832	154602	rs117748510	0.0027	0.0027	0.0019	0.0035	0.0273	0.0026	0.0026	0.0264	0.0260	0.0005	0.0003	0	0.0263	1.872e-05	0.0028	0.0002	0.0043	0.0273	0.0021	0.0021	0.0017	0.0025	0.0305	0.0019	0.0019	0.0264	0.0249	0.0005	0	6.534e-05	0	0.0260	0	0.0034	0.0002	0.0028	0.0305	0.047	0.40319	D	0.0	0.92824	D	.	.	.	.	.	.	0.000024	0.55875	D	0.072248	0.999709	0.48408	D	.	.	.	-0.93	0.75215	T	-2.01	0.46337	N	0.83	0.85238	-0.7182	0.59551	T	0.150	0.47752	T	10	0.009301335	0.00210	T	.	.	.	0.426	0.73372	.	.	0.649314703251	0.64640	0.4799576502131357	0.47915	0.0239078099333	0.02427	0.555704414845	0.46660	T	0.055797	0.30106	T	-0.187113	0.22683	T	-0.017867	0.69169	D	0.0335711694566184	0.02566	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.;.;.	.;.;.	2.744783	0.35961	20.1	0.99689563059916253	0.79842	0.77620	0.38185	D	AEFDGBI	0.347276	0.44180	N	0.232178871657312	0.52763	3.448597	0.235089474670716	0.51805	3.359969	0.756002068294349	0.23435	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	3.37	0.37692	1.320000	0.33272	0.323000	0.17205	0.599000	0.40250	0.998000	0.41325	0.995000	0.32472	0.976000	0.56436	0.0:0.1844:0.0:0.8156	7.467	0.26497	464	0.78488	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	918.83	92	chr9	20923697	.	C	G	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.988;DP=264;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.138;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	5	0	1	0
chr9	20929532	20929532	G	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375570:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375567:exon27:c.G3253A:p.V1085M,FOCAD:NM_017794:exon29:c.G3253A:p.V1085M	.	432	1079	11	0	0	11	0.00507146	.	.	.	767365	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.369	0.0181318337219	0.0003	0.000399361	0.0005	0	0.0003	0	0	0.0002	0.0011	0.0028	0.0004786	74	154602	rs143564901	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0031	0.0030	0.0001	0.0003	0	5.038e-05	1.872e-05	0.0033	0.0002	0.0007	0.0034	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0001	0	0.0002	0	0	0	0	0.0002	0.0009	0.0012	0.035	0.43708	D	0.02	0.92824	D	.	.	.	.	.	.	0.007025	0.31644	N	0.331333	0.980415	0.39664	D	.	.	.	-1.02	0.76300	T	-0.92	0.24676	N	0.381	0.52297	-0.3440	0.73728	T	0.314	0.68397	T	10	0.01407221	0.00297	T	0.018132	0.40089	T	0.369	0.68844	.	.	0.709331485652	0.70679	0.4688371267529804	0.46802	0.00646287402462	0.00566	0.564574897289	0.47913	T	0.070962	0.34090	T	-0.200618	0.20715	T	-0.0630554	0.66118	T	0.0402515653521763	0.03736	T	0.877312	0.59878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36791	B	.;.;.;.;.	.;.;.;.;.	3.509311	0.49139	22.7	0.99677011677302574	0.78977	0.89913	0.50694	D	AEFDBIJ	0.339076	0.43634	N	0.356378925210758	0.59077	4.084305	0.415274820377807	0.62515	4.468268	0.981747679325063	0.30305	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	6.06	5.16	0.70563	2.693000	0.46694	6.745000	0.56495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0675:0.1291:0.8034:0.0	10.946	0.46511	435	0.80441	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1056.83	33	chr9	20929532	.	G	A	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=1.35;SOR=0.718	GT:AD:DP:GQ:PL	0/1:76,45:121:99:1067,0,2002	5	0	1	0
chr9	20981543	20981543	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon37:c.C4390T:p.P1464S,FOCAD:NM_001375570:exon37:c.C4390T:p.P1464S,FOCAD:NM_001375567:exon38:c.C4495T:p.P1499S,FOCAD:NM_017794:exon40:c.C4495T:p.P1499S	.	.	.	.	.	.	.	.	.	.	.	737088	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0055	0.00339457	0.0040	0.0015	0.0023	0	0.0032	0.0061	0.0011	0.0006	0.0042043	650	154602	rs117591845	0.0057	0.0057	0.0058	0.0055	0.0069	0.0056	0.0055	0.0067	0.0067	0.0009	0.0021	7.652e-05	0	0.0030	0.0002	0.0069	0.0051	0.0007	0.0040	0.0040	0.0041	0.0040	0.0061	0.0038	0.0037	0.0056	0.0054	0.0012	0.0296	0.0058	0	0	0.0025	0	0.0061	0.0047	0.0002	0.159	0.23813	T	0.532	0.10034	T	.	.	.	.	.	.	0.925804	0.07504	N	1.032580	1	0.08975	N	.	.	.	2.24	0.17923	T	-0.67	0.19297	N	0.127	0.12055	-0.9872	0.33298	T	0.026	0.11131	T	10	0.0035098493	0.00063	T	.	.	.	0.064	0.18567	.	.	0.136095386433	0.13204	0.21360456744450887	0.21276	0.00576182497348	0.00504	0.269468426704	0.06071	T	0.005197	0.04646	T	-0.634563	0.00090	T	-0.678733	0.07061	T	0.00233232321774912	0.00024	T	0.652235	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.;.	.;.;.	0.320458	0.06949	3.497	0.61074612771385894	0.06619	0.13229	0.17737	N	AEFDGBIJ	0.116201	0.22815	N	-0.842396969317738	0.12238	0.5952815	-0.837875707448347	0.13580	0.70522	0.999998561072742	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.659464	0.59346	0	0.677038	0.66255	0	.	.	5.7	2.67	0.30756	0.457000	0.21588	0.280000	0.16756	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7395:0.1231:0.1373	10.313	0.42900	488	0.76887	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1553.83	33	chr9	20981543	.	C	T	1553.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.306;SOR=0.713	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1383	5	0	1	0
chr9	21077768	21077768	G	C	exonic	IFNB1	.	nonsynonymous SNV	IFNB1:NM_002176:exon1:c.C102G:p.S34R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00641865448437	0.0003	0.000998403	0.0008	0	8.754e-05	0.0001	0.0002	0.0004	0.0022	0.0037	0.0001229	19	154602	rs139262191	0.0005	0.0005	0.0004	0.0006	0.0042	0.0005	0.0004	0.0038	0.0037	2.989e-05	0.0003	0.0012	2.52e-05	0.0001	0.0014	0.0002	0.0008	0.0042	0.0004	0.0004	0.0002	0.0006	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0002	0.0012	0	0	0.0034	0.0004	0	0.0054	0.004	0.65419	D	0.322	0.19016	T	0.99	0.63424	D	0.885	0.62825	P	0.125549	0.18838	N	0.585786	0.999987	0.18198	N	1.625	0.41611	L	2.26	0.17596	T	-2.72	0.57920	D	0.507	0.53884	-1.0818	0.07003	T	0.067	0.27434	T	10	0.011768788	0.00256	T	0.006419	0.16899	T	0.178	0.44724	0.71	0.84601	0.618380283371	0.61529	0.5497210084814975	0.54898	0.0310260877546	0.03212	0.33335223794	0.15439	T	0.124785	0.45005	T	-0.455132	0.01053	T	-0.428648	0.30089	T	0.0727125078825543	0.09027	T	0.522848	0.17081	T	0.69327134	0.77689	0.5606023	0.74577	0.69327134	0.77691	0.5606023	0.74578	-3.713	0.19510	T	.	.	0.392	0.59103	A	.	.	2.124693	0.27044	17.33	0.99166651550720797	0.54269	0.15375	0.18881	N	AEFGBI	0.059832	0.11329	N	-0.327488970590743	0.28107	1.547628	-0.485264577639745	0.22559	1.225869	0.993551061809221	0.33262	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	3.57	0.40014	1.775000	0.38213	.	.	-0.113000	0.14837	0.358000	0.25825	0.000000	0.08366	0.003000	0.05239	0.0805:0.0:0.7641:0.1554	8.210	0.30636	737	0.53483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1362.83	106	chr9	21077768	.	G	C	1362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=289;ExcessHet=0;FS=3.59;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.643;SOR=1.064	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	5	0	1	0
chr9	21166078	21166078	T	C	exonic	IFNA21	.	nonsynonymous SNV	IFNA21:NM_002175:exon1:c.A535G:p.K179E	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0006	0.0389377	0.0194	0.0013	0.0336	0.0997	0.0030	0.0007	0.0088	0.0616	0.0174965	2705	154602	rs3750478	0.0081	0.0081	0.0069	0.0095	0.1119	0.0080	0.0080	0.1092	0.1081	0.0009	0.0282	0.0005	0.1119	0.0033	0.0023	0.0003	0.0107	0.0585	0.0082	0.0082	0.0069	0.0095	0.1007	0.0078	0.0077	0.0936	0.0908	0.0016	0	0.0166	0.0003	0.1007	0.0027	0	0.0005	0.0038	0.0698	0.002	0.72154	D	0.286	0.21277	T	0.0	0.02946	B	0.0	0.01387	B	0.317618	0.04054	N	1.441390	1	0.08975	N	-0.975	0.01213	N	4.0	0.03239	T	-0.29	0.11728	N	0.014	0.00160	-0.9315	0.43918	T	0.000	0.00114	T	10	0.0022858083	0.00034	T	.	.	.	0.028	0.06331	.	.	.	.	0.04709050679141975	0.04652	0.0177436046835	0.01731	0.253964871168	0.04198	T	0.001715	0.01139	T	-0.728876	0.00024	T	-0.701625	0.05737	T	0.00338918853778009	0.00036	T	0.059594	0.00430	T	0.21095918	0.43407	0.08936213	0.20891	0.21095918	0.43406	0.08936213	0.20890	-4.366	0.29092	T	.	.	0.085	0.10304	B	.	.	1.162996	0.15522	11.91	0.90269641792041966	0.19539	0.00896	0.03516	N	AEFI	0.027205	0.02183	N	-1.09663075325377	0.06705	0.3094091	-1.10826869148338	0.07541	0.3672309	2.98245558826929E-4	0.06406	0.603402	0.35316	0	0.573888	0.26702	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	4.02	0.205	0.14481	0.003000	0.12984	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.372:0.2036:0.4244	3.704	0.07925	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.026515	0.08333	2273.83	187	chr9	21166078	.	T	C	2273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.09;DP=373;ExcessHet=0;FS=4.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.079;SOR=1	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	5	0	1	0
chr9	21974530	21974531	TG	-	exonic	CDKN2A	.	frameshift deletion	CDKN2A:NM_058197:exon1:c.297_298del:p.H99Qfs*33	Melanoma and neural system tumor syndrome, Autosomal dominant;Orolaryngeal cancer, multiple (3);Pancreatic cancer/melanoma syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3180.79	33	chr9	21974529	.	CTG	C	3180.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.112;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.524;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	5	0	1	0
chr9	27016920	27016920	C	A	exonic	IFT74	.	nonsynonymous SNV	IFT74:NM_001099222:exon11:c.C803A:p.S268Y,IFT74:NM_001099223:exon11:c.C803A:p.S268Y,IFT74:NM_001099224:exon11:c.C803A:p.S268Y,IFT74:NM_001349928:exon11:c.C803A:p.S268Y,IFT74:NM_025103:exon11:c.C803A:p.S268Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0747286630858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.884e-07	1.368e-06	1.37e-06	0	9.025e-07	0	0	.	.	0	0	0	0	0	0	9.025e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.07	0.63738	T	-4.79	0.81675	D	0.96	0.96984	-0.1265	0.79483	T	0.452	0.78585	T	10	0.8336408	0.82522	D	0.074729	0.72114	D	0.398	0.71242	0.221	0.14371	0.771526343225	0.76942	0.5149603423126629	0.51419	0.106778675347	0.12062	0.610529780388	0.54391	T	0.275715	0.64826	T	0.336994	0.85634	D	0.246292	0.85446	D	0.992374360561371	0.82838	D	0.949805	0.80758	D	0.85307723	0.87564	0.81552273	0.89252	0.85307723	0.87565	0.81552273	0.89253	-9.475	0.73882	D	.	.	0.329	0.56566	B	.;.;.;.	.;.;.;.	4.404471	0.68085	25.2	0.99540185095173594	0.70461	0.95852	0.66430	D	AEFBI	0.652607	0.62594	D	0.827057085977166	0.87766	9.333156	0.811528285891136	0.90585	10.47386	0.999989766467411	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	6.512000	0.73648	4.836000	0.45242	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.613	0.91248	535	0.73288	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	236.83	11	chr9	27016920	.	C	A	236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.248;DP=126;ExcessHet=0;FS=4.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=1.29;SOR=2.833	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,967	5	0	1	0
chr9	32634813	32634813	C	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G767C:p.G256A	.	1	1509	12	0	0	12	0.0039604	.	.	.	2828838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0056	0.00339457	0.0068	0.0013	0.0010	0	0.0259	0.0086	0.0132	0.0030	0.0066687	1031	154602	rs55991718	0.0076	0.0076	0.0077	0.0076	0.0080	0.0075	0.0075	0.0079	0.0078	0.0014	0.0015	0.0031	2.519e-05	0.0253	0.0021	0.0080	0.0055	0.0040	0.0068	0.0068	0.0061	0.0076	0.0090	0.0065	0.0063	0.0085	0.0082	0.0015	0	0.0016	0.0063	0	0.0266	0	0.0090	0.0052	0.0042	0.028	0.46129	D	0.037	0.51737	D	0.151	0.28027	B	0.04	0.23831	B	0.000000	0.84330	N	0.052112	0.999667	0.48141	D	2.455	0.71248	M	3.02	0.08986	T	-3.29	0.65742	D	0.29	0.32812	-1.0664	0.10223	T	0.012	0.04747	T	10	0.006072521	0.00136	T	.	.	.	0.092	0.26621	.	.	0.411001663086	0.40716	0.36905587412701624	0.36819	0.173944268882	0.19586	0.420082181692	0.27847	T	0.238464	0.60636	T	-0.556626	0.00266	T	-0.56437	0.15969	T	0.0595602123796396	0.07099	T	0.970703	0.89491	D	0.25123996	0.48131	0.20725717	0.44977	0.25123996	0.48131	0.20725717	0.44976	-11.734	0.83532	D	.	.	0.295	0.52582	B	.	.	3.265755	0.44684	22.0	0.96158345794661948	0.28890	0.74270	0.36330	D	AEFDGBI	0.395272	0.47220	N	-0.291553724954087	0.29472	1.634758	-0.320175729517094	0.27448	1.523109	0.992585134461447	0.32893	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	5.212000	0.65058	7.398000	0.58557	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	7.486	0.26601	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	4169.83	34	chr9	32634813	.	C	G	4169.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=461;ExcessHet=0;FS=0.451;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.271;SOR=0.649	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr9	33038862	33038862	G	A	exonic	DNAJA1	.	nonsynonymous SNV	DNAJA1:NM_001314039:exon8:c.G682A:p.E228K,DNAJA1:NM_001539:exon9:c.G1153A:p.E385K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.020140001493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.268	0.31720	B	0.236	0.38470	B	0.000020	0.62929	D	0.153332	0.999984	0.54805	D	3.005	0.85968	M	0.01	0.62459	T	-3.02	0.62630	D	0.184	0.19995	-0.3658	0.73089	T	0.319	0.68813	T	10	0.30200276	0.47740	T	0.02014	0.42672	T	0.223	0.52023	0.471	0.54537	0.814083760786	0.81233	0.643771417573487	0.64312	0.5337776408	0.50804	0.625844478607	0.56556	T	0.705314	0.91550	D	0.0469076	0.57944	T	-0.170397	0.57408	T	0.979708135128021	0.72970	D	0.877412	0.59112	D	0.51355946	0.67887	0.3464543	0.60313	0.51355946	0.67888	0.3464543	0.60312	-17.492	0.99266	D	.	.	0.609	0.69263	P	.	.	3.720937	0.53168	23.3	0.99802400981199679	0.88728	0.98420	0.82592	D	AEFBCI	0.944523	0.95171	D	0.393353093085732	0.61061	4.302334	0.455746382743495	0.65087	4.779549	0.999999999353663	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.87	4.87	0.62877	8.746000	0.91292	9.379000	0.80502	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.863	0.78816	542	0.72843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	48.83	33	chr9	33038862	.	G	A	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.176;DP=232;ExcessHet=0;FS=8.255;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.701;SOR=2.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:89:.:.:0,89,1203:.	5	0	1	0
chr9	35043587	35043587	T	C	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.T853C:p.Y285H,C9orf131:NM_001040411:exon2:c.T739C:p.Y247H,C9orf131:NM_001287391:exon2:c.T739C:p.Y247H,C9orf131:NM_203299:exon2:c.T958C:p.Y320H,C9orf131:NM_001040412:exon3:c.T814C:p.Y272H	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00473401913664	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942606007	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20381	T	0.238	0.26549	T	0.987	0.61912	D	0.748	0.55971	P	0.559261	0.11353	N	0.748306	1	0.08975	N	1.7	0.43825	L	2.31	0.16953	T	-2.17	0.49018	N	0.247	0.27910	-1.0731	0.08745	T	0.065	0.26913	T	10	0.14650226	0.27774	T	0.004734	0.11784	T	0.033	0.08068	0.305	0.27485	0.0482279557977	0.04254	0.1432727684155706	0.14250	0.0707918277514	0.07938	.	.	.	0.054057	0.29616	T	-0.294943	0.09146	T	-0.661441	0.08169	T	0.641092002391815	0.38083	D	0.530647	0.18406	T	0.07532797	0.16965	0.101601064	0.24327	0.07532797	0.16965	0.101601064	0.24326	-4.149	0.26053	T	.	.	0.203	0.43922	B	.;.;.	.;.;.	1.704920	0.21711	15.32	0.99102436232935232	0.52496	0.18961	0.20472	N	AEFDBI	.	.	.	-0.225582510425943	0.32087	1.805886	-0.39975133000384	0.25005	1.372565	0.999774434936118	0.42865	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.58	3.42	0.38259	0.998000	0.29345	0.157000	0.15360	0.665000	0.62972	0.046000	0.21249	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.1997:0.8002	8.348	0.31448	108	0.95573	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2680.83	82	chr9	35043587	.	T	C	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=435;ExcessHet=0;FS=1.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.18;SOR=0.551	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr9	35547812	35547823	CCAGGCCCTGGC	-	exonic	RUSC2	.	nonframeshift deletion	RUSC2:NM_001135999:exon2:c.1291_1302del:p.G432_P435del,RUSC2:NM_014806:exon2:c.1291_1302del:p.G432_P435del	.	423	1074	23	2	0	27	0.0124138	.	.	.	1648154	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0012	0.0003	0.0004	0.0003	0	0.0005	0	0.0064	1.29e-05	2	154602	rs749692537	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0056	0.0055	8.961e-05	0.0005	3.826e-05	0.0001	0	0.0073	0.0004	0.0009	0.0061	0.0005	0.0005	0.0004	0.0006	0.0069	0.0004	0.0004	0.0050	0.0044	7.229e-05	0	0.0005	0	0	0	0.0034	0.0005	0.0014	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6618.01	43	chr9	35547811	.	ACCAGGCCCTGGC	A	6618.01	.	AC=2;AF=0.167;AN=12;DP=364;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.27;SOR=0.881	GT:AD:DP:GQ:PL	1/1:0,149:149:99:6638,450,0	5	1	0	0
chr9	35609719	35609719	C	T	exonic	TESK1	.	stopgain	TESK1:NM_001318230:exon9:c.C1378T:p.Q460X,TESK1:NM_006285:exon10:c.C1858T:p.Q620X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409808986	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001218	0.39820	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.638826	0.97821	38	0.99476321656504929	0.66633	0.91352	0.53360	D	AEFDBI	0.199470	0.32627	N	0.771649731023049	0.84304	8.251022	0.635176039449237	0.77511	6.693528	0.999999814051899	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.12	5.12	0.69459	1.115000	0.30823	5.929000	0.51288	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2886:0.7114:0.0:0.0	11.199	0.47956	234	0.90879	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1143.83	33	chr9	35609719	.	C	T	1143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.217;DP=239;ExcessHet=0;FS=1.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.089;SOR=0.523	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	5	0	1	0
chr9	35650835	35650835	G	A	exonic	SIT1	.	nonsynonymous SNV	SIT1:NM_014450:exon1:c.C19T:p.R7W	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00229960675955	0.0014	0.000599042	0.0009	0.0020	0.0001	0	0	0.0013	0.0014	0	0.0008021	124	154602	rs141629430	0.0012	0.0012	0.0013	0.0012	0.0019	0.0012	0.0012	0.0016	0.0014	0.0019	0.0005	0.0003	2.528e-05	1.882e-05	0.0003	0.0015	0.0013	5.827e-05	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0016	0.0015	0.0020	0	0.0008	0.0003	0	9.423e-05	0.0034	0.0012	0.0019	0	0.086	0.32610	T	0.037	0.55759	D	0.001	0.07471	B	0.0	0.01387	B	0.989708	0.07894	N	1.007880	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.65	0.39503	N	0.125	0.38848	-1.0221	0.23031	T	0.048	0.20355	T	9	0.0067046285	0.00152	T	0.002	0.04424	T	0.021	0.04004	.	.	0.137902524267	0.13322	0.20094875266514273	0.20011	0.241909686111	0.26705	0.210994243622	0.00854	T	0.205722	0.56486	T	-0.583969	0.00182	T	-0.624838	0.10809	T	0.00905258316754071	0.00113	T	0.50295	0.15803	T	0.032211274	0.03204	0.029954815	0.01392	0.032211274	0.03204	0.029954815	0.01391	-3.567	0.17381	T	.	.	0.104	0.42346	B	.;.	.;.	0.003504	0.04306	1.086	0.82679659992228793	0.14318	0.00838	0.03362	N	AEFDGBHCI	0.044664	0.07214	N	-1.71020375134506	0.00806	0.03484544	-1.84436940179199	0.00627	0.02788465	0.999999999999995	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.542086	0.14980	0	.	.	3.65	-7.3	0.01298	-2.955000	0.00741	-2.056000	0.04279	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.5673:0.194:0.141:0.0977	3.985	0.09004	272	0.89337	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1432.83	38	chr9	35650835	.	G	A	1432.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.415;DP=298;ExcessHet=0;FS=0.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.928;SOR=0.749	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,113,1252	5	0	1	0
chr9	35738149	35738149	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon15:c.G2201A:p.R734H,GBA2:NM_020944:exon15:c.G2201A:p.R734H	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	418	1094	10	0	0	10	0.00454959	.	.	YES	459234	not_provided|Spastic_paraplegia|GBA2-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.00666668549365	0.0004	.	0.0007	9.615e-05	0.0010	0.0001	0.0002	0.0009	0.0033	0.0005	0.0007115	110	154602	rs142621039	0.0006	0.0006	0.0006	0.0006	0.0281	0.0006	0.0006	0.0246	0.0232	0.0012	0.0010	0.0008	0	0.0001	0.0281	0.0004	0.0015	0.0005	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0003	0.0006	0	0	0.0204	0.0006	0.0033	0.0002	0.049	0.39820	D	0.155	0.62352	T	0.04	0.73220	B	0.024	0.59664	B	0.000012	0.62929	D	0.103920	0.966584	0.38539	D	0.755	0.19153	N	.	.	.	-0.74	0.44284	N	0.177	0.20129	-0.7590	0.57460	T	0.182	0.52996	T	9	0.08138573	0.13316	T	0.006667	0.17614	T	0.062	0.17934	.	.	0.669898965789	0.66711	0.178110442209124	0.17730	0.371760189014	0.38677	0.438472211361	0.30369	T	0.606422	0.87461	D	-0.421568	0.01671	T	-0.402957	0.33040	T	0.010069983932768	0.00135	T	0.948405	0.88325	D	0.07569718	0.17072	0.054802172	0.09493	0.0821733	0.18917	0.046679176	0.06558	-6.574	0.50915	T	0.2545519719737281	0.34425	0.067	0.24363	B	.;.;.	.;.;.	4.728429	0.76132	26.5	0.99931123691797763	0.99387	0.86478	0.45766	D	AEFBCI	0.226858	0.35075	N	0.169245712864204	0.49725	3.169776	0.278100444905668	0.54264	3.591838	0.999993528147224	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	4.91	0.63897	3.265000	0.51264	4.918000	0.46015	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.7699:0.0:0.2301	9.153	0.36135	95	0.96074	Glycosyl-hydrolase family 116, catalytic region;Glycosyl-hydrolase family 116, catalytic region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.010101	0.021739	0.076023	0.050000	0.017241	0.000000	0.003788	0.08333	829.83	33	chr9	35738149	.	C	T	829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.31;DP=267;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.001;SOR=0.533	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1411	5	0	1	0
chr9	35751684	35751684	C	G	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon7:c.C692G:p.S231C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00625013327374	0.0007	0.000599042	0.0007	0.0003	8.642e-05	0	0	0.0011	0	0	0.0006921	107	154602	rs149109089	0.0012	0.0012	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0	0.0004	0.0004	0	1.873e-05	0.0005	0.0014	0.0011	3.478e-05	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0004	0	0.0009	0.0003	0	9.418e-05	0	0.0012	0.0019	0	0.023	0.48186	D	0.037	0.51737	D	0.951	0.53992	P	0.886	0.62898	P	0.000017	0.62929	D	0.147061	0.899679	0.36141	D	1.76	0.45711	L	.	.	.	-2.83	0.59710	D	0.523	0.55280	-0.4315	0.71017	T	0.295	0.66669	T	9	0.087855965	0.15072	T	0.00625	0.16406	T	0.198	0.48105	.	.	0.37550373646	0.37164	0.6025435844289592	0.60185	0.509059477772	0.49044	0.713788747787	0.69143	T	0.305275	0.67754	T	-0.17605	0.24324	T	-0.0661928	0.65897	T	0.182628452777863	0.19400	T	0.928207	0.73493	D	0.35204923	0.57226	0.23672093	0.48951	0.35204923	0.57226	0.23672093	0.48950	-7.883	0.60270	D	.	.	0.141	0.30817	B	.	.	4.906488	0.80684	27.4	0.99232480568948067	0.56278	0.97949	0.78358	D	AEFBI	0.546758	0.56073	D	0.536133251289693	0.69242	5.329252	0.568315888784008	0.72681	5.848362	0.999999987763222	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.58	5.58	0.84361	2.623000	0.46101	7.734000	0.67822	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.579	0.91119	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1368.83	44	chr9	35751684	.	C	G	1368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.486;DP=337;ExcessHet=0;FS=4.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.482;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1397	5	0	1	0
chr9	35869501	35869501	C	A	exonic	OR13J1	.	nonsynonymous SNV	OR13J1:NM_001004487:exon1:c.G901T:p.A301S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0113619674219	.	.	1.65e-05	0	0	0	0	1.502e-05	0.0011	0	1.29e-05	2	154602	rs146834712	4.105e-06	4.788e-06	4.085e-06	4.126e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.228	0.30509	B	0.065	0.27321	B	0.254231	0.15446	N	0.574042	1	0.08975	N	0.69	0.16971	N	1.18	0.37746	T	-1.4	0.34596	N	0.329	0.36989	-1.0353	0.18762	T	0.065	0.26702	T	10	0.17734596	0.32764	T	0.011362	0.28906	T	0.049	0.13647	0.646	0.78330	0.220303561663	0.21668	0.25676841524009536	0.25590	0.136421546733	0.15389	0.196447193623	0.00361	T	0.025317	0.18955	T	-0.293153	0.09321	T	-0.562016	0.16187	T	0.164645239710808	0.18208	T	0.257374	0.04056	T	0.14951162	0.34082	0.10592983	0.25473	0.14951162	0.34081	0.10592983	0.25472	-6.443	0.49844	T	.	.	0.110	0.21277	B	.	.	0.942994	0.13190	9.688	0.91860047590675453	0.21174	0.19538	0.20699	N	AEFDBI	0.119039	0.23251	N	-1.0290929815415	0.08004	0.3737864	-1.04822561489745	0.08744	0.4314131	0.98790695727349	0.31369	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.5	2.66	0.30672	-1.015000	0.03748	-0.178000	0.11160	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8352:0.0:0.1648	11.945	0.52209	233	0.90919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1533.83	33	chr9	35869501	.	C	A	1533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=300;ExcessHet=0;FS=7.744;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.96;SOR=0.576	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1462	5	0	1	0
chr9	35906602	35906604	CCC	-	exonic	HRCT1	.	nonframeshift deletion	HRCT1:NM_001039792:exon1:c.315_317del:p.P106del	.	853	647	8	0	14	22	0.00614439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2007	.	0.0164	0.0144	0.0108	0.0047	0.0037	0.0154	0.0288	0.0396	0.0048706	753	154602	rs565823201	0.0048	0.0064	0.0044	0.0051	0.0185	0.0047	0.0046	0.0177	0.0173	0.0060	0.0034	0.0085	0.0032	0.0002	0.0161	0.0038	0.0052	0.0185	0.0078	0.0081	0.0080	0.0077	0.0519	0.0072	0.0069	0.0409	0.0369	0.0102	0	0.0076	0.0201	0.0111	0.0013	0.0079	0.0044	0.0137	0.0519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1311.8	37	chr9	35906601	.	ACCC	A	1311.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=197;ExcessHet=0;FS=9.578;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.17;ReadPosRankSum=0.912;SOR=2.409	GT:AD:DP:GQ:PL	0/0:42,0:42:66:0,66,990	5	0	1	0
chr9	35906603	35906603	C	0	exonic	HRCT1	.	.	.	.	865	603	28	6	20	60	0.0321027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	193.03	37	chr9	35906603	.	C	*	193.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.126;DP=188;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=3.07;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:16:.:.:0,16,1141:.	5	0	1	0
chr9	35906604	35906604	C	0	exonic	HRCT1	.	.	.	.	919	482	25	5	91	126	0.035035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	865.29	37	chr9	35906604	.	C	*	865.29	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.126;DP=187;ExcessHet=4.1913;FS=1.75;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.45;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:26:99:.:.:314,368,1023:.	4	0	1	1
chr9	37440831	37440831	C	A	exonic	ZBTB5	.	nonsynonymous SNV	ZBTB5:NM_014872:exon2:c.G1721T:p.G574V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00558279631767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.057	0.46406	T	0.241	0.30888	B	0.172	0.35394	B	0.003741	0.34560	N	0.305954	1	0.81001	D	0.895	0.22405	L	2.83	0.10771	T	-0.62	0.18248	N	0.3	0.33904	-1.0118	0.26353	T	0.024	0.10103	T	10	0.0999479	0.18170	T	0.005583	0.14409	T	0.167	0.42761	0.231	0.15855	0.0675242888579	0.06100	0.47770088062735766	0.47690	0.37845524719	0.39259	0.354770451784	0.18622	T	0.00536	0.04811	T	-0.104952	0.35602	T	-0.388533	0.34724	T	0.441067308187485	0.30469	T	0.843016	0.51993	T	0.26031217	0.49087	0.2181716	0.46511	0.26031217	0.49087	0.2181716	0.46510	-4.444	0.30149	T	.	.	0.204	0.42934	B	.	.	2.540703	0.32863	19.17	0.97427501033974839	0.33911	0.92047	0.54827	D	AEFGBCI	0.335346	0.43382	N	-0.313904277725382	0.28618	1.580056	-0.205184775038109	0.31348	1.773324	0.999999988545353	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.35	4.43	0.52967	1.658000	0.36992	2.767000	0.34644	0.599000	0.40250	0.491000	0.26886	0.990000	0.31317	0.999000	0.91618	0.0:0.8629:0.1371:0.0	15.723	0.77494	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1849.83	33	chr9	37440831	.	C	A	1849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.988;DP=310;ExcessHet=0;FS=1.362;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.105;SOR=0.572	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr9	37746717	37746717	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371225:exon16:c.C4685T:p.T1562M,FRMPD1:NM_014907:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371224:exon17:c.C4685T:p.T1562M	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0181044419361	0.0005	0.000998403	0.0013	0.0002	0.0004	0.0001	0	0.0009	0.0011	0.0051	0.0010349	160	154602	rs138292555	0.0010	0.0010	0.0008	0.0011	0.0048	0.0009	0.0009	0.0045	0.0043	0.0002	0.0005	0	0.0002	1.879e-05	0.0043	0.0008	0.0009	0.0048	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0008	0	0	0	0	0.0006	0.0014	0.0066	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	2.72	0.11947	T	-2.51	0.54546	D	0.65	0.66101	-1.1252	0.02026	T	0.095	0.35871	T	10	0.013040841	0.00278	T	0.018104	0.40048	T	0.182	0.45420	.	.	0.617646156206	0.61455	0.6220305346248838	0.62136	0.644980302806	0.57974	0.547689378262	0.45532	T	0.134961	0.46651	T	-0.292635	0.09373	T	-0.192311	0.55373	T	0.0748716071248055	0.09318	T	0.833117	0.50161	T	0.36147833	0.57948	0.39572087	0.64232	0.36147833	0.57949	0.39572087	0.64232	-4.964	0.36447	T	.	.	0.205	0.43186	B	.;.	.;.	4.557147	0.71774	25.7	0.99917412614993062	0.98518	0.97174	0.73125	D	AEFDBI	0.483911	0.52415	N	0.693957481417395	0.79237	7.035421	0.682701674811385	0.81068	7.440592	0.99999999999977	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	4.239000	0.58490	7.674000	0.64943	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	17.358	0.87230	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.011696	0.000000	0.008621	0.003049	0.003788	0.08333	1743.83	33	chr9	37746717	.	C	T	1743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.067;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=1.5;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr9	38396394	38396394	C	G	exonic	ALDH1B1	.	nonsynonymous SNV	ALDH1B1:NM_000692:exon2:c.C646G:p.L216V	.	416	1105	1	0	0	1	0.000452284	.	.	.	211388	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.620	0.0373720171857	.	0.00159744	0.0011	0	8.655e-05	0	0	0	0	0.0078	0.000912	141	154602	rs200322513	0.0004	0.0004	0.0002	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0003	2.248e-05	0.0003	0.0068	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.47e-05	0	0.0081	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001537	0.38731	N	0.110753	0.999361	0.46798	D	.	.	.	-1.21	0.78645	T	-2.74	0.58248	D	0.561	0.58543	0.324	0.87935	D	0.616	0.86422	D	10	0.048122317	0.04220	T	0.037372	0.57578	D	0.620	0.85249	0.893	0.97460	0.764114882311	0.76196	0.5739929524803189	0.57328	0.15587858973	0.17597	0.421870291233	0.28093	T	.	.	.	-0.262812	0.12574	T	-0.146283	0.59572	T	0.239840816622253	0.22412	T	0.978102	0.92255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45859	B	.	.	2.620403	0.34050	19.52	0.99624037363997231	0.75594	0.84213	0.43296	D	AEFBCI	0.464470	0.51295	N	0.392060159253133	0.60990	4.29445	0.264076115067921	0.53455	3.514284	0.999997637655187	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	4.61	0.56724	2.689000	0.46660	0.838000	0.22015	0.599000	0.40250	0.985000	0.35982	0.001000	0.17328	0.325000	0.25087	0.0:0.9168:0.0:0.0832	12.175	0.53488	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1282.83	115	chr9	38396394	.	C	G	1282.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.19;DP=634;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.86;SOR=0.63	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	5	0	1	0
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head 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	.	.	.	.	.	.	.	.	0.08333	56.13	6	chr9	41127944	.	C	A	56.13	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.19;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=24.51;MQRankSum=-0.842;QD=8.02;ReadPosRankSum=-1.718;SOR=0.495	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,234	5	0	1	0
chr9	42188920	42188920	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3218A:p.A1073E	.	532	986	4	0	0	4	0.00202429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0396984975134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs553157776	0.0011	0.0011	0.0010	0.0011	0.0035	0.0010	0.0010	0.0032	0.0030	0.0002	0.0004	0	0	0	0.0025	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0033	0.0007	0.0007	0.0020	0.0016	0.0001	0	0.0007	0	0.0002	0	0	0.0013	0.0016	0.0033	0.056	0.38185	T	0.006	0.70582	D	.	.	.	.	.	.	0.166133	0.03075	N	1.768180	1	0.08975	N	.	.	.	3.73	0.03982	T	-2.12	0.48184	N	0.124	0.11626	-0.9646	0.38290	T	0.009	0.03011	T	10	0.038933992	0.02346	T	0.002343	0.04535	T	.	.	.	.	0.0138822411134	0.00435	0.154372607781962	0.15358	.	.	0.345601379871	0.17273	T	0.00223	0.01633	T	-0.308175	0.07909	T	-0.680448	0.06956	T	0.325911462306976	0.26060	T	0.352565	0.07917	T	0.12655447	0.29639	0.16716525	0.38581	0.12655447	0.29638	0.16716525	0.38580	-2.759	0.07812	T	.	.	0.148	0.32804	B	.	.	0.803135	0.11738	8.315	0.9656234791522339	0.30265	0.00443	0.02158	N	AEFI	0.029990	0.02933	N	-1.29893783815269	0.03689	0.1652296	-1.45170748048928	0.02755	0.127279	1.42478912111353E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-4.12	0.03650	-1.253000	0.02987	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.3059:0.3354:0.3587	4.134	0.09630	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	.	.	.	.	.	.	.	.	0.08333	2181.83	255	chr9	42188920	.	C	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.223;DP=449;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.083;MQ=48.85;MQRankSum=-1.727;QD=8.56;ReadPosRankSum=-0.413;SOR=0.814	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	5	0	1	0
chr9	42189384	42189384	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3682T:p.V1228L	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0403867784699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202011482	0.0011	0.0011	0.0010	0.0012	0.0035	0.0010	0.0010	0.0032	0.0031	0.0002	0.0004	0	0	0	0.0024	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0034	0.0008	0.0007	0.0021	0.0017	0.0001	0	0.0008	0	0.0002	0	0	0.0013	0.0021	0.0034	0.38	0.11191	T	0.526	0.10245	T	.	.	.	.	.	.	0.056137	0.02081	N	2.360930	1	0.08975	N	.	.	.	3.87	0.03597	T	-0.49	0.15578	N	0.026	0.00527	-0.9592	0.39330	T	0.010	0.03673	T	10	0.019815505	0.00447	T	0.001056	0.01191	T	.	.	.	.	0.0401082797425	0.02173	0.0145433691601484	0.01411	.	.	0.370967447758	0.20970	T	0.001185	0.00684	T	-0.415512	0.01828	T	-0.834631	0.01183	T	0.0512768542615498	0.05722	T	0.475152	0.14192	T	0.029822357	0.02540	0.0264825	0.00740	0.029822357	0.02540	0.0264825	0.00740	-3.541	0.17010	T	.	.	0.172	0.37839	B	.	.	-0.824000	0.01061	0.046	0.87571617011690062	0.17323	0.00062	0.00453	N	AEFI	0.017786	0.00491	N	-1.43502866729811	0.02337	0.1030748	-1.56008313653875	0.01907	0.08699791	0.00131151494683756	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.39	0.02457	-0.740000	0.04966	-20.000000	0.00162	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.2389:0.0:0.4794:0.2817	5.100	0.14089	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	.	.	.	.	.	.	.	.	0.08333	2909.83	464	chr9	42189384	.	G	T	2909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.888;DP=1308;ExcessHet=0;FS=1.214;MLEAC=1;MLEAF=0.083;MQ=55.97;MQRankSum=0.942;QD=6.27;ReadPosRankSum=0.016;SOR=0.553	GT:AD:DP:GQ:PL	0/0:248,0:248:99:0,120,1800	5	0	1	0
chr9	67859537	67859537	C	-	exonic	ANKRD20A1	.	frameshift deletion	ANKRD20A1:NM_032250:exon1:c.111delC:p.H38Tfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	218.47	.	chr9	67859536	.	TC	T	218.47	.	AC=2;AF=1;AN=2;DP=6;ExcessHet=0;FS=0;MLEAC=3;MLEAF=1;MQ=42.57;QD=30.37;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	0	1	0	5
chr9	69230107	69230107	A	C	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon11:c.A1558C:p.K520Q,TJP2:NM_001170416:exon11:c.A1639C:p.K547Q,TJP2:NM_001369872:exon11:c.A1546C:p.K516Q,TJP2:NM_001369873:exon11:c.A1546C:p.K516Q,TJP2:NM_001369874:exon11:c.A1558C:p.K520Q,TJP2:NM_001369875:exon11:c.A1558C:p.K520Q,TJP2:NM_004817:exon11:c.A1546C:p.K516Q,TJP2:NM_201629:exon11:c.A1546C:p.K516Q,TJP2:NM_001170414:exon12:c.A1477C:p.K493Q,TJP2:NM_001369870:exon12:c.A1471C:p.K491Q,TJP2:NM_001369871:exon13:c.A1477C:p.K493Q	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00969428803695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.04757	T	0.51	0.10821	T	0.119	0.26641	B	0.062	0.26930	B	0.000674	0.42516	N	0.244121	0.614316	0.32649	D	0.87	0.21467	L	1.47	0.31987	T	-1.26	0.33197	N	0.232	0.30461	-1.0542	0.13251	T	0.038	0.16333	T	10	0.14175966	0.26931	T	0.009694	0.25313	T	0.046	0.12618	0.526	0.63115	0.633304003171	0.63030	0.21701237517486804	0.21617	0.209477625729	0.23420	0.431200325489	0.29372	T	0.164056	0.50936	T	-0.197587	0.21152	T	-0.521597	0.20132	T	0.59712141752243	0.36286	D	0.759324	0.41060	T	0.12491417	0.29296	0.10408969	0.24991	0.12491417	0.29296	0.10408969	0.24990	-5.872	0.49884	T	0.0571888489087696	0.01374	0.085	0.14979	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.249781	0.28733	17.90	0.98452170614766532	0.41631	0.90575	0.51865	D	AEFBI	0.266234	0.38319	N	-0.381211125832276	0.26138	1.424277	-0.191598164296261	0.31844	1.80601	0.997863553918304	0.36124	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.46	0.38718	2.550000	0.45472	6.953000	0.57030	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7491:0.2508:0.0:0.0	13.188	0.59118	988	0.01987	.;.;.;PDZ domain|PDZ domain;PDZ domain|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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1396.83	91	chr9	69230107	.	A	C	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.375;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.032;SOR=0.624	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr9	70536143	70536143	G	A	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_206944:exon24:c.C4445T:p.A1482V,TRPM3:NM_001007471:exon25:c.C4934T:p.A1645V,TRPM3:NM_001366141:exon25:c.C4940T:p.A1647V,TRPM3:NM_001366149:exon25:c.C4940T:p.A1647V,TRPM3:NM_020952:exon25:c.C4475T:p.A1492V,TRPM3:NM_206945:exon25:c.C4481T:p.A1494V,TRPM3:NM_206947:exon25:c.C4520T:p.A1507V,TRPM3:NM_001366145:exon26:c.C4970T:p.A1657V,TRPM3:NM_024971:exon26:c.C4511T:p.A1504V,TRPM3:NM_206946:exon26:c.C4550T:p.A1517V,TRPM3:NM_001366147:exon27:c.C5045T:p.A1682V	.	427	1093	2	0	0	2	0.000914077	.	.	.	2826139	not_provided|TRPM3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	0.0100782883907	0.0010	0.000399361	0.0009	0.0006	0.0003	0	0.0005	0.0015	0.0022	6.06e-05	0.001009	156	154602	rs148848073	0.0014	0.0014	0.0015	0.0013	0.0018	0.0014	0.0014	0.0017	0.0017	0.0005	0.0003	0.0006	0	0.0003	0.0010	0.0018	0.0011	6.956e-05	0.0012	0.0012	0.0013	0.0010	0.0020	0.0010	0.0010	0.0018	0.0016	0.0005	0	0.0005	0.0017	0	0.0003	0	0.0020	0.0009	0	0.508	0.10945	T	0.25	0.23707	T	0.0	0.02946	B	0.0	0.01387	B	0.805489	0.09291	N	0.908436	1	0.08975	N	.	.	.	0.65	0.54347	T	-0.56	0.17210	N	0.019	0.04072	-1.0300	0.20454	T	0.081	0.31854	T	10	0.004575461	0.00095	T	0.010078	0.26191	T	0.082	0.23913	.	.	0.148003135375	0.14442	0.25504057731701857	0.25418	0.110524674684	0.12470	0.278896391392	0.07339	T	0.064436	0.33260	T	-0.559684	0.00255	T	-0.580402	0.14509	T	0.00410457952521323	0.00044	T	0.824018	0.48536	T	.	.	.	.	.	.	.	.	-3.462	0.15904	T	.	.	0.061	0.02578	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.099083	0.03647	0.728	0.30438219501477343	0.01665	0.13690	0.17997	N	AEFDBIJ	0.177949	0.30521	N	-1.14289044091177	0.05897	0.270095	-1.10111881511	0.07679	0.374482	0.989057196293109	0.31709	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.77	0.634	0.16889	0.527000	0.22695	-0.459000	0.09050	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.377000	0.26268	0.4744:0.0:0.5256:0.0	10.887	0.46181	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1798.83	101	chr9	70536143	.	G	A	1798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.047;DP=524;ExcessHet=0;FS=3.103;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.68;SOR=0.692	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	5	0	1	0
chr9	74728241	74728241	G	A	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon38:c.C5918T:p.P1973L,TRPM6:NM_001177311:exon38:c.C5918T:p.P1973L,TRPM6:NM_017662:exon38:c.C5933T:p.P1978L	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	0.1873	0.56	.	1463023	Intestinal_hypomagnesemia_1|not_provided	MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0162810896942	0.0002	.	5.019e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs145398520	1.987e-05	1.984e-05	8.184e-06	3.167e-05	0.0002	1.394e-05	1.206e-05	0.0001	8.65e-05	0	0	0	5.04e-05	0	0	8.111e-06	4.973e-05	0.0002	2.63e-05	2.627e-05	3.855e-05	1.346e-05	7.245e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34982	T	0.106	0.38016	T	0.374	0.49442	B	0.019	0.33554	B	0.036426	0.24523	N	0.483459	0.999996	0.58761	D	1.75	0.45442	L	3.27	0.06602	T	-4.66	0.79482	D	0.257	0.29081	-1.1320	0.01689	T	0.034	0.14552	T	10	0.14057049	0.26718	T	0.016281	0.37459	T	0.094	0.27141	.	.	0.161926535498	0.15789	0.4788526348657309	0.47805	0.258958016155	0.28446	0.468530595303	0.34478	T	0.65634	0.89632	D	-0.405767	0.02121	T	-0.528484	0.19439	T	0.270603358745575	0.23773	T	0.905209	0.66592	D	0.13388425	0.31125	0.17462479	0.39872	0.13388425	0.31125	0.17462479	0.39871	-8.851	0.66733	D	.	.	0.122	0.30344	B	.;.;.	.;.;.	2.564100	0.33215	19.27	0.95386731495705646	0.26818	0.94770	0.62270	D	AEFGBI	0.672088	0.63861	D	0.215235885248673	0.51938	3.371278	0.270944045897966	0.53849	3.552035	0.999946823644335	0.47345	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.1	0.47196	2.945000	0.48735	0.220000	0.16063	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.1369:0.0:0.725:0.1381	7.333	0.25768	852	0.35056	.;.;MHCK/EF2 kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	207.83	34	chr9	74728241	.	G	A	207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=202;ExcessHet=0;FS=1.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=1.39;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr9	75069908	75069908	G	C	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon5:c.C304G:p.L102V,NMRK1:NM_017881:exon5:c.C304G:p.L102V,NMRK1:NM_001330678:exon6:c.C316G:p.L106V,NMRK1:NM_001330679:exon6:c.C316G:p.L106V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0397904991121	0.0015	0.000798722	0.0014	0.0002	0.0003	0	0.0014	0.0019	0.0011	0.0016	0.0014942	231	154602	rs146012983	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0017	0	0.0018	0.0010	0.0025	0.0015	0.0013	0.0014	0.0014	0.0014	0.0013	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0014	0.0023	0.0002	0.0010	0	0.0022	0.0014	0.0002	0.003	0.68238	D	0.074	0.42976	T	0.999	0.77913	D	0.996	0.84481	D	0.000008	0.62929	D	0.065086	0.994884	0.42456	D	2.835	0.82492	M	1.3	0.49068	T	-2.19	0.49352	N	0.511	0.54234	-0.5341	0.67386	T	0.284	0.65606	T	10	0.028863907	0.01015	T	0.03979	0.59008	D	0.216	0.50959	.	.	0.76554066581	0.76340	0.6875646154150812	0.68696	0.148953533345	0.16796	0.513455569744	0.40706	T	0.115187	0.43359	T	-0.376323	0.03286	T	-0.306799	0.44002	T	0.0430804988441211	0.04252	T	0.951205	0.82399	D	0.5969878	0.72529	0.44017994	0.67345	0.5969878	0.72530	0.44017994	0.67345	-6.462	0.68044	T	.	.	0.173	0.37858	B	.;.;.	.;.;.	4.568054	0.72040	25.8	0.99859105603442733	0.93729	0.96709	0.70521	D	AEFDBI	0.579089	0.58003	D	0.568070290642305	0.71188	5.613191	0.529947210321923	0.70015	5.443367	0.998973462231504	0.38110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.76	4.84	0.62125	3.601000	0.53812	8.524000	0.77433	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0733:0.0:0.7793:0.1475	9.153	0.36137	728	0.54609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	493.83	39	chr9	75069908	.	G	C	493.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.121;DP=216;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.773;SOR=0.457	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1223	5	0	1	0
chr9	76704797	76704797	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G7477A:p.D2493N,PRUNE2:NM_001308048:exon8:c.G7477A:p.D2493N,PRUNE2:NM_015225:exon8:c.G7477A:p.D2493N	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0629902855024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868110829	2.11e-05	2.326e-05	2.227e-05	1.99e-05	2.752e-05	1.496e-05	1.299e-05	1.952e-05	1.694e-05	0	0	0	0	0	0	2.752e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.015	0.62352	D	0.868	0.47740	P	0.383	0.43945	B	0.177095	0.17207	N	0.562805	1	0.08975	N	2.08	0.57402	M	0.57	0.54347	T	-1.76	0.41618	N	0.235	0.28965	-0.8611	0.51184	T	0.144	0.46623	T	10	0.17811307	0.32879	T	0.06299	0.68828	D	0.117	0.32689	0.197	0.10975	0.597732455086	0.59452	0.2112686557236702	0.21042	0.160582675934	0.18125	0.315999776125	0.12815	T	0.101111	0.48062	T	-0.206356	0.19895	T	-0.534193	0.18869	T	0.392614811658859	0.28663	T	0.858514	0.55989	D	0.09007834	0.21066	0.083932355	0.19272	0.09007834	0.21066	0.083932355	0.19272	-3.873	0.21898	T	.	.	0.100	0.17016	B	.;.;.	.;.;.	1.959285	0.24885	16.56	0.9955723098711825	0.71521	0.13461	0.17869	N	ALL	0.102056	0.20482	N	-0.0956845238539657	0.37582	2.188521	-0.179421833970588	0.32294	1.83587	0.999999977974039	0.74766	0.696267	0.57585	0	0.596394	0.48810	0	0.691665	0.62940	0	0.765457	0.99879	0	.	.	6.08	4.22	0.49153	1.516000	0.35463	0.623000	0.20150	0.599000	0.40250	0.003000	0.16062	0.008000	0.19753	0.286000	0.24163	0.1452:0.5941:0.1273:0.1334	3.892	0.08626	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	859.83	36	chr9	76704797	.	C	T	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.881;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.687;SOR=0.677	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,115,1482	5	0	1	0
chr9	77339817	77339817	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon47:c.A6563G:p.Y2188C,VPS13A:NM_001018038:exon48:c.A6680G:p.Y2227C,VPS13A:NM_015186:exon48:c.A6680G:p.Y2227C,VPS13A:NM_033305:exon48:c.A6680G:p.Y2227C	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	902410	Chorea-acanthocytosis	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.075854238372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168343737	1.095e-05	1.094e-05	1.225e-05	9.626e-06	1.349e-05	6.48e-06	5.24e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.0	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	1	0.81001	D	3.105	0.87672	M	1.35	0.34648	T	-8.4	0.97265	D	0.826	0.83167	-0.5927	0.65113	T	0.246	0.61530	T	10	0.89075315	0.88417	D	0.075854	0.72389	D	0.610	0.84719	.	.	0.769332471954	0.76722	0.846730066489584	0.84634	0.667108249473	0.59229	0.827715277672	0.86212	D	0.514048	0.82877	D	0.274184	0.80812	D	0.15607	0.80564	D	0.999595105648041	0.98068	D	0.988576	0.96541	D	0.8369109	0.86388	0.83949006	0.90805	0.8369109	0.86390	0.83949006	0.90805	-14.011	0.93571	D	.	.	0.889	0.82035	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.723897	0.76021	26.4	0.99826131335945423	0.90852	0.98826	0.87362	D	AEFGBI	0.929501	0.91535	D	0.86232008870373	0.89798	10.12218	0.846457822837128	0.92808	11.64389	0.999999800984214	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	8.911000	0.92272	11.290000	0.92000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.422	0.83604	624	0.65661	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	40	chr9	77339817	.	A	G	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.76;SOR=0.671	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr9	77356866	77356866	C	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon54:c.C7688T:p.P2563L,VPS13A:NM_001018038:exon55:c.C7805T:p.P2602L,VPS13A:NM_015186:exon55:c.C7805T:p.P2602L,VPS13A:NM_033305:exon55:c.C7805T:p.P2602L	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	0.0034	0.128	YES	2447237	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0055796038906	.	0.000199681	8.45e-05	9.919e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs141031668	3.353e-05	3.352e-05	3.404e-05	3.302e-05	0.0002	2.567e-05	2.313e-05	8.214e-05	5.794e-05	5.976e-05	0	0	0.0002	3.75e-05	0	3.148e-05	4.97e-05	0	6.573e-05	6.564e-05	5.145e-05	8.066e-05	0.0004	3.518e-05	2.617e-05	6.852e-05	2.866e-05	7.225e-05	0	6.548e-05	0	0.0004	0	0	4.412e-05	0	0.0002	0.135	0.28148	T	0.424	0.14412	T	0.005	0.12996	B	0.002	0.08700	B	0.011360	0.29565	N	0.358364	0.999997	0.58761	D	1.01	0.25309	L	1.04	0.46412	T	-2.46	0.53736	N	0.249	0.28616	-1.0905	0.05449	T	0.057	0.23828	T	9	0.059055448	0.07038	T	0.00558	0.14409	T	0.017	0.02790	.	.	0.515036129008	0.51145	0.2938617707077042	0.29299	0.131949428448	0.14876	0.287018239498	0.08490	T	0.321793	0.69286	T	-0.371365	0.03526	T	-0.573574	0.15123	T	0.112874999642372	0.13719	T	0.738026	0.35686	T	0.0452288	0.07368	0.050498504	0.07939	0.0452288	0.07368	0.050498504	0.07939	-1.775	0.02436	T	.	.	0.068	0.02702	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.695738	0.21600	15.27	0.92554211911183693	0.22005	0.46984	0.27881	N	AEFGI	0.181578	0.30890	N	-0.431292197211786	0.24379	1.315926	-0.295862173464352	0.28234	1.572642	0.0180388587859802	0.13015	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	2.82	0.32061	0.407000	0.20770	2.213000	0.31384	-0.240000	0.07525	0.876000	0.30908	1.000000	0.68203	0.945000	0.48827	0.3761:0.4806:0.0:0.1432	5.960	0.18528	548	0.72362	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	305.83	33	chr9	77356866	.	C	T	305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.03;DP=210;ExcessHet=0;FS=1.339;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=0.989;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	5	0	1	0
chr9	78236385	78236385	C	T	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon1:c.C35T:p.A12V,CEP78:NM_001330691:exon1:c.C35T:p.A12V,CEP78:NM_001330693:exon1:c.C35T:p.A12V,CEP78:NM_001330694:exon1:c.C35T:p.A12V,CEP78:NM_001349838:exon1:c.C35T:p.A12V,CEP78:NM_001349839:exon1:c.C35T:p.A12V,CEP78:NM_001349840:exon1:c.C35T:p.A12V,CEP78:NM_032171:exon1:c.C35T:p.A12V	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737201	CEP78-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	0.0037	0.00399361	0.0024	0.0275	0.0026	0	0	0.0009	0	0	0.0008991	139	154602	rs182452644	0.0004	0.0004	0.0005	0.0004	0.0126	0.0004	0.0004	0.0116	0.0112	0.0126	0.0006	0.0033	0	0	0.0005	2.087e-05	0.0010	1.201e-05	0.0034	0.0034	0.0036	0.0031	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0007	0.0035	0	0	0	7.351e-05	0.0009	0.0002	0.026	0.51853	D	0.044	0.50514	D	0.988	0.64070	D	0.482	0.47702	P	0.019302	0.27286	N	0.292022	1	0.08975	N	2.295	0.65404	M	2.67	0.12473	T	-1.72	0.42191	N	0.105	0.11054	-1.0519	0.13872	T	0.022	0.09147	T	10	0.006123394	0.00138	T	.	.	.	0.096	0.27654	.	.	0.589311288323	0.58607	0.5590519171579735	0.55832	0.109964420921	0.12399	0.739881038666	0.72955	T	0.06809	0.33369	T	-0.536882	0.00350	T	-0.532939	0.18993	T	0.0416529832053052	0.03991	T	0.816118	0.47137	T	0.12738317	0.29809	0.24214762	0.49628	0.12738317	0.29809	0.24214762	0.49627	-5.903	0.46019	T	0.4786952424066041	0.55776	0.147	0.53989	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.249792	0.64501	24.7	0.99825410653061986	0.90764	0.81572	0.40948	D	ALL	0.160527	0.28648	N	0.0158201547383202	0.42575	2.567823	-0.0439540415185767	0.37753	2.214762	0.999999969326173	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.98	3.09	0.34677	1.843000	0.38900	3.131000	0.36441	0.589000	0.31548	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.6586:0.1625:0.1789	5.625	0.16754	971	0.05719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.003027	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	828.83	36	chr9	78236385	.	C	T	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.226;DP=215;ExcessHet=0;FS=2.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.523;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1092	5	0	1	0
chr9	81988881	81988881	T	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon1:c.T63A:p.H21Q	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000415408630224	8.4e-05	.	0.0006	0	0.0003	0.0006	0.0008	0.0003	0.0033	0.0024	0.0004851	75	154602	rs369748541	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	0	6.709e-05	0	0.0011	0.0010	0.0006	6.567e-05	0.0005	0.0026	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0002	0	0.0014	0.0007	0	0.0001	0	0.0023	0.114	0.28646	T	0.304	0.20100	T	0.2	0.29645	B	0.181	0.35894	B	0.024178	0.01606	N	2.464650	1	0.08975	N	1.39	0.34934	L	3.56	0.04696	T	-0.2	0.10136	N	0.188	0.20528	-1.0231	0.22704	T	0.011	0.04274	T	10	0.007183999	0.00163	T	4.15E-4	0.00078	T	0.014	0.01968	0.26	0.20315	0.0401082797425	0.02173	0.046945759448175924	0.04637	.	.	0.30914837122	0.11778	T	0.002157	0.01556	T	-0.70683	0.00033	T	-0.793637	0.02066	T	0.0263923057506649	0.01459	T	0.381662	0.09243	T	0.030499302	0.02723	0.040508	0.04392	0.030499302	0.02723	0.040508	0.04392	2.03	0.00050	T	.	.	0.145	0.31906	B	.	.	-0.263508	0.02782	0.378	0.46576605531866078	0.03741	0.00116	0.00732	N	AEFI	0.022151	0.01072	N	-1.42251075703358	0.02441	0.1078323	-1.61635843040301	0.01559	0.07065688	0.392245853065381	0.20057	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.73	-5.46	0.02404	-0.391000	0.07383	-20.000000	0.00162	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5243:0.1963:0.1118:0.1676	1.379	0.02092	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005656	0.000000	0.000000	0.000000	0.000000	0.000000	0.023333	0.011905	0.08333	858.83	38	chr9	81988881	.	T	A	858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.715;DP=245;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.083;MQ=59.77;MQRankSum=-0.585;QD=11.61;ReadPosRankSum=-1.503;SOR=0.921	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	5	0	1	0
chr9	81990831	81990831	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C361T:p.R121C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00209981291959	.	.	4.409e-05	0	0	0.0002	0	1.584e-05	0	0.0001	3.23e-05	5	154602	rs775546728	5.474e-06	5.472e-06	4.084e-06	6.877e-06	5.798e-05	2.36e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.001	0.83351	D	1.0	0.90584	D	0.941	0.67658	D	0.275139	0.15052	N	0.558816	1	0.08975	N	2.325	0.66631	M	2.65	0.12676	T	-4.72	0.79998	D	0.241	0.27197	-1.1271	0.01926	T	0.063	0.26029	T	10	0.24486488	0.41725	T	0.002	0.03882	T	0.139	0.37390	0.523	0.62668	0.437207349437	0.43342	0.03413471756833938	0.03361	.	.	0.549443304539	0.45780	T	0.095768	0.39688	T	-0.324222	0.06558	T	-0.466831	0.25858	T	0.757517218589783	0.43710	D	0.733627	0.34942	T	0.14657372	0.33547	0.14102134	0.33596	0.14657372	0.33547	0.14102134	0.33595	-5.658	0.43318	T	.	.	0.148	0.32804	B	.	.	2.407743	0.30945	18.59	0.99825993781130451	0.90852	0.26104	0.22896	N	AEFI	0.070880	0.14088	N	0.0268339367942836	0.43078	2.607844	-0.174540813543665	0.32477	1.84801	4.20410032217277E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	2.89	0.32713	2.406000	0.44210	-1.833000	0.04643	0.465000	0.21702	0.114000	0.23067	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	9.537	0.38391	922	0.19044	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2758.83	222	chr9	81990831	.	C	T	2758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.53;DP=425;ExcessHet=0;FS=8.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.477;SOR=0.853	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1400	5	0	1	0
chr9	81990832	81990832	G	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.G362A:p.R121H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00109414809706	.	.	1.753e-05	0.0001	0	0	0	1.575e-05	0	0	1.29e-05	2	154602	rs267602287	2.874e-05	2.941e-05	3.812e-05	1.926e-05	0.0003	2.152e-05	1.908e-05	6.092e-05	2.521e-05	5.974e-05	2.237e-05	0	2.519e-05	0	0.0003	3.058e-05	1.656e-05	1.16e-05	3.946e-05	3.941e-05	2.57e-05	5.386e-05	7.244e-05	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	4.411e-05	0	0	0.074	0.34621	T	0.122	0.35710	T	0.947	0.53479	P	0.251	0.39041	B	0.275139	0.15052	N	0.558816	1	0.08975	N	0.65	0.16133	N	2.77	0.11407	T	-1.89	0.44094	N	0.158	0.16447	-0.9531	0.40433	T	0.009	0.03403	T	10	0.102504015	0.18792	T	0.001094	0.01287	T	0.186	0.46104	0.46	0.52753	0.216624796971	0.21254	0.029737598722136136	0.02922	.	.	0.514076173306	0.40793	T	0.020793	0.16305	T	-0.410315	0.01978	T	-0.590497	0.13623	T	0.208477631211281	0.20874	T	0.643236	0.25495	T	0.02562927	0.01522	0.03014689	0.01435	0.02562927	0.01522	0.03014689	0.01435	-5.645	0.43201	T	.	.	0.121	0.25166	B	.	.	0.566720	0.09351	6.133	0.99168051504588162	0.54298	0.08985	0.14829	N	AEFI	0.034953	0.04417	N	-0.871296784153834	0.11529	0.5568631	-0.991578917650787	0.09973	0.4994372	1.88131626009975E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.89	-1.54	0.08130	0.518000	0.22554	-8.847000	0.00904	-0.281000	0.06419	0.086000	0.22486	0.000000	0.08366	0.001000	0.02609	0.3792:0.0:0.4206:0.2002	2.857	0.05232	922	0.19044	Domain of unknown function DUF4599	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2630.83	101	chr9	81990832	.	G	A	2630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=481;ExcessHet=0;FS=0.497;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=0.995;QD=12.24;ReadPosRankSum=1.81;SOR=0.641	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1400	5	0	1	0
chr9	83062744	83062744	C	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon1:c.G124C:p.V42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0431438828533	.	.	0.0001	0	0	0	0	7.297e-05	0	0.0003	2.59e-05	4	154602	rs748902963	1.059e-05	1.026e-05	8.405e-06	1.282e-05	0.0001	6.36e-06	5.04e-06	7.477e-05	5.739e-05	0	0	0	0	0	0	3.644e-06	0	0.0001	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.293	0.54683	T	0.174	0.34596	T	0.998	0.73220	D	0.946	0.68276	D	0.000078	0.52346	D	0.075179	0.999943	0.51968	D	0.08	0.08321	N	2.02	0.21119	T	0.01	0.19933	N	0.274	0.36989	-1.1020	0.03857	T	0.054	0.22997	T	10	0.18386328	0.33734	T	0.043144	0.60833	D	0.176	0.44373	0.163	0.06730	0.231231049324	0.22751	0.5515790653064594	0.55083	0.668253342316	0.59282	0.911261260509	0.97588	D	0.030573	0.21640	T	-0.319056	0.06975	T	-0.416643	0.31460	T	0.285175681114197	0.24388	T	0.809419	0.47040	T	0.30875304	0.53678	0.14436813	0.34277	0.30875304	0.53678	0.14436813	0.34276	-3.713	0.19510	T	.	.	0.383	0.65279	A	.;.	.;.	4.282037	0.65240	24.8	0.99371138102687151	0.61455	0.92383	0.55584	D	AEFDBHCI	0.735845	0.68153	D	0.0306291502414603	0.43252	2.621812	0.0257704813580884	0.40914	2.449509	0.999999999999876	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.2	3.3	0.36912	2.912000	0.48479	3.515000	0.38865	0.464000	0.21668	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.9126:0.0:0.0874	11.763	0.51183	953	0.10115	EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1132.83	89	chr9	83062744	.	C	G	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.028;DP=266;ExcessHet=0;FS=4.071;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.743;SOR=0.367	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	5	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	52.06	46	chr9	86018822	.	G	C	52.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.44;DP=301;ExcessHet=0.4139;FS=173.004;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.12;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,10:50:41:.:.:0,41,772:.	4	0	2	0
chr9	89319680	89319680	C	T	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001282688:exon2:c.C65T:p.P22L,SECISBP2:NM_001354696:exon2:c.C65T:p.P22L,SECISBP2:NM_001354697:exon2:c.C65T:p.P22L,SECISBP2:NM_001354698:exon2:c.C65T:p.P22L,SECISBP2:NM_024077:exon2:c.C65T:p.P22L	Thyroid hormone metabolism, abnormal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.111108770028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195959026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000008	0.62929	D	0.000000	0.999977	0.81001	D	2.395	0.69210	M	-2.32	0.87830	D	-6.49	0.91564	D	0.778	0.77507	0.488	0.90384	D	0.681	0.88985	D	10	0.7926189	0.78792	D	0.111109	0.78875	D	0.612	0.84826	0.449	0.50957	0.941015724423	0.94040	0.29457152982394313	0.29370	0.376980688921	0.39134	0.701998174191	0.67433	T	0.314651	0.68631	T	0.376744	0.88499	D	0.30339	0.88354	D	0.994845151901245	0.86394	D	0.907309	0.67223	D	0.68922126	0.77470	0.66336745	0.80267	0.68922126	0.77471	0.66336745	0.80268	-6.432	0.49759	T	0.8316486505881618	0.90232	0.662	0.71427	P	.	.	5.120374	0.85639	28.7	0.99835515603613068	0.91628	0.57979	0.30519	D	ALL	0.344666	0.44008	N	0.506259612931756	0.67460	5.084491	0.481112878125281	0.66739	4.991499	0.999999999996087	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	3.628000	0.54000	7.473000	0.59173	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	15.844	0.78649	950	0.11238	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	881.83	34	chr9	89319680	.	C	T	881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.887;DP=250;ExcessHet=0;FS=4.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.939;SOR=1.27	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	5	0	1	0
chr9	90844157	90844157	G	A	exonic	SYK	.	nonsynonymous SNV	SYK:NM_001135052:exon2:c.G259A:p.D87N,SYK:NM_001174167:exon2:c.G259A:p.D87N,SYK:NM_001174168:exon2:c.G259A:p.D87N,SYK:NM_003177:exon2:c.G259A:p.D87N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0315740420601	.	0.000399361	0.0004	0	0	0	0	0	0	0.0032	0.0003558	55	154602	rs201177148	0.0002	0.0002	7.895e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0003	9.892e-06	0.0001	0.0028	9.846e-05	9.842e-05	8.991e-05	0.0001	0.0023	6.001e-05	4.875e-05	0.0013	0.0010	4.809e-05	0	0	0	0.0004	0	0	0	0	0.0023	0.003	0.68238	D	0.071	0.43531	T	0.522	0.39540	P	0.358	0.43079	B	0.000039	0.55875	D	0.160602	0.999997	0.58761	D	2.64	0.77224	M	1.62	0.28189	T	-1.64	0.39314	N	0.173	0.27077	-0.8467	0.52195	T	0.132	0.44347	T	10	0.014643639	0.00308	T	0.031574	0.53626	D	0.176	0.44373	.	.	0.607244974009	0.60409	0.4899533693493624	0.48915	0.201567771287	0.22553	0.522092819214	0.41921	T	0.474961	0.80620	T	-0.460308	0.00979	T	-0.436713	0.29176	T	0.283723109656166	0.24327	T	0.889011	0.62289	D	0.74848753	0.80780	0.4884488	0.70399	0.74848753	0.80782	0.4884488	0.70399	-10.466	0.76651	D	.	.	0.150	0.34026	B	.;.;.;.	.;.;.;.	4.272483	0.65018	24.8	0.99876838635080156	0.95410	0.99122	0.91549	D	AEFDBI	0.914536	0.87804	D	0.464344124717533	0.65021	4.770416	0.482506010004803	0.66832	5.003599	0.999999999999734	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.79	4.79	0.60909	7.417000	0.79365	11.548000	0.93166	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.0:0.0:1.0:0.0	18.043	0.89248	964	0.07719	SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SYK/ZAP-70, N-terminal SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1029.83	39	chr9	90844157	.	G	A	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.095;SOR=0.635	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1207	5	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:201,119:355:99:340,0,3478	0	0	6	0
chr9	93134193	93134193	C	G	exonic	NINJ1	.	nonsynonymous SNV	NINJ1:NM_004148:exon1:c.G25C:p.E9Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0020	0.00219649	0.0021	0.0168	0.0035	0	0	0.0002	0	0	0.0007244	112	154602	rs201941970	0.0005	0.0005	0.0006	0.0004	0.0132	0.0005	0.0005	0.0121	0.0117	0.0132	0.0011	0	0	4.168e-05	0.0015	0.0001	0.0017	9.033e-05	0.0041	0.0041	0.0041	0.0041	0.0136	0.0039	0.0038	0.0126	0.0123	0.0136	0	0.0031	0	0	0	0.0034	0.0001	0.0033	0.0002	0.014	0.53172	D	0.017	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.011762	0.29407	U	0.227947	0.976852	0.39313	D	0.975	0.24501	L	0.53	0.55090	T	-0.83	0.22727	N	0.214	0.23884	-0.8421	0.52506	T	0.121	0.42144	T	10	0.0060983896	0.00137	T	.	.	.	0.073	0.21317	.	.	0.818283716425	0.81657	0.4786535745625638	0.47785	1.26252807684	0.82080	0.810478389263	0.83565	D	0.116006	0.43503	T	-0.36588	0.03808	T	-0.287306	0.46051	T	0.0582117641216712	0.06884	T	0.693931	0.30359	T	0.13014543	0.30377	0.13209395	0.31706	0.13014543	0.30376	0.13209395	0.31705	-3.715	0.19540	T	.	.	0.222	0.45347	B	.	.	4.242567	0.64330	24.7	0.99735065545166901	0.83047	0.69178	0.34085	D	AEFDBHCI	0.123036	0.23846	N	0.246704199755835	0.53474	3.516279	0.177195423817999	0.48600	3.073773	0.999999999902927	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.12	3.12	0.34986	0.162000	0.16318	3.721000	0.39586	0.466000	0.21733	0.003000	0.16062	1.000000	0.68203	0.797000	0.37605	0.0:1.0:0.0:0.0	11.969	0.52342	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002094	0.000000	0.002786	0.003049	0.000000	0.008929	0.000000	0.000000	0.08333	195.83	38	chr9	93134193	.	C	G	195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.72;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.171;SOR=1.075	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,535	5	0	1	0
chr9	94098538	94098538	G	A	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.G1972A:p.V658I,PTPDC1:NM_152422:exon6:c.G1966A:p.V656I,PTPDC1:NM_001253830:exon7:c.G1810A:p.V604I,PTPDC1:NM_177995:exon7:c.G1810A:p.V604I	.	430	1080	8	4	0	16	0.00735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0079	0.00439297	0.0067	0.0024	0.0040	0	0.0051	0.0101	0.0044	0.0019	0.0068693	1062	154602	rs61755091	0.0083	0.0083	0.0084	0.0082	0.0116	0.0082	0.0081	0.0096	0.0095	0.0021	0.0042	0.0084	0	0.0039	0.0116	0.0097	0.0075	0.0016	0.0069	0.0069	0.0072	0.0067	0.0111	0.0066	0.0065	0.0104	0.0102	0.0019	0.0044	0.0071	0.0084	0	0.0052	0.0204	0.0111	0.0085	0.0012	0.347	0.15717	T	0.616	0.07543	T	0.001	0.11197	B	0.003	0.12992	B	0.200180	0.16620	N	0.592582	0.998846	0.21861	N	1.435	0.35949	L	2.3	0.16953	T	-0.13	0.08971	N	0.03	0.01068	-0.9858	0.33639	T	0.015	0.05849	T	10	0.006323844	0.00143	T	.	.	.	0.033	0.08068	.	.	0.429203605099	0.42540	0.03665613889443326	0.03612	0.10803942518	0.12183	0.310288310051	0.11951	T	0.014937	0.12621	T	-0.712919	0.00031	T	-0.785159	0.02301	T	0.00446982036657947	0.00048	T	0.657134	0.26688	T	0.027024174	0.01836	0.021128692	0.00175	0.027024174	0.01835	0.021128692	0.00175	-4.152	0.27026	T	.	.	0.093	0.13969	B	.;.;.;.	.;.;.;.	1.392444	0.18056	13.52	0.71815514447516693	0.09758	0.83304	0.42432	D	AEFBI	0.114995	0.22628	N	-0.627957895652806	0.18108	0.9374672	-0.453060302588684	0.23462	1.279625	0.999533828832629	0.40238	0.632932	0.41330	0	0.588015	0.36545	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	5.76	1.65	0.23015	0.222000	0.17482	2.027000	0.30236	-0.119000	0.14319	0.995000	0.38783	0.699000	0.26222	0.978000	0.57271	0.1456:0.3373:0.405:0.1122	3.914	0.08716	870	0.31527	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008056	0.015152	0.006793	0.011696	0.050000	0.008621	0.003049	0.000000	0.08333	727.83	36	chr9	94098538	.	G	A	727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.61;DP=221;ExcessHet=0;FS=6.396;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=2.21;SOR=0.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	5	0	1	0
chr9	94928437	94928437	G	A	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_001193329:exon6:c.G1567A:p.E523K,AOPEP:NM_001193331:exon7:c.G1567A:p.E523K	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0173412498679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894162990	0.0002	0.0001	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	9.497e-05	0	0	0	0	0.0002	0.0002	0.0003	0	7.885e-05	7.88e-05	8.993e-05	6.725e-05	0.0002	4.497e-05	3.512e-05	9.046e-05	7.011e-05	2.413e-05	0	0	0	0	0	0	0.0002	0	0	0.059	0.42199	T	0.1	0.54159	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.65	0.15028	T	-2.16	0.48850	N	0.438	0.47672	-1.0477	0.15045	T	0.111	0.39794	T	10	0.32045305	0.49420	T	0.017341	0.38999	T	0.197	0.47942	.	.	0.304760801415	0.30091	0.4485523929885274	0.44773	0.369964310443	0.38527	.	.	.	.	.	.	-0.121213	0.32925	T	-0.242763	0.50528	T	0.739244341850281	0.42697	D	0.861114	0.56692	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.;.	.;.;.	3.504473	0.49049	22.7	0.99788043032842677	0.87396	0.98863	0.87857	D	AEFDBI	0.701463	0.65815	D	0.148971212319137	0.48764	3.08466	0.203237532726475	0.50028	3.199098	0.999999999999919	0.74766	0.600919	0.35232	0	0.588015	0.36545	0	0.608075	0.38828	0	0.620204	0.46100	0	.	.	5.01	5.01	0.66477	5.999000	0.70334	7.528000	0.59870	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	0.0:0.0:1.0:0.0	18.863	0.92247	716	0.55970	.;.;Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	188.83	27	chr9	94928437	.	G	A	188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.996;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.753;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1271	5	0	1	0
chr9	95107205	95107205	T	C	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon14:c.A1394G:p.Q465R,FANCC:NM_001243743:exon14:c.A1394G:p.Q465R	Fanconi anemia, complementation group C, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	138036	Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|Fanconi_anemia_complementation_group_C|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00197435216087	0.0033	0.00159744	0.0010	0.0100	0.0005	0	0	4.526e-05	0.0023	0.0003	0.0008473	131	154602	rs1800368	0.0004	0.0004	0.0004	0.0003	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0007	3.826e-05	0	3.744e-05	0.0007	4.946e-05	0.0012	0.0001	0.0033	0.0033	0.0035	0.0031	0.0111	0.0030	0.0029	0.0103	0.0099	0.0111	0	0.0012	0	0	0	0.0068	0.0001	0.0038	0.0002	0.898	0.02436	T	0.702	0.05685	T	0.0	0.02946	B	0.0	0.01387	B	0.523611	0.05216	N	1.266990	1	0.08975	N	-1.39	0.00611	N	0.93	0.44065	T	0.76	0.01978	N	0.022	0.00372	-1.0685	0.09746	T	0.014	0.05561	T	10	0.003341049	0.00058	T	0.001974	0.03535	T	0.026	0.05648	.	.	0.345405024496	0.34151	0.0338063059384584	0.03328	0.0554409255693	0.06136	0.204421445727	0.00596	T	0.051744	0.28966	T	-0.749748	0.00018	T	-0.838707	0.01118	T	0.000801356739117568	0.00007	T	0.174183	0.01674	T	0.017022874	0.00240	0.023923488	0.00407	0.01600127	0.00170	0.024342967	0.00452	-4.1	0.25290	T	0.03892437941898787	0.00303	0.057	0.00553	B	.;.	.;.	-1.130889	0.00604	0.016	0.25456442599114076	0.01174	0.02627	0.07216	N	AEFDGBHCI	0.023806	0.01380	N	-2.33819197817903	0.00037	0.001602744	-2.33658487583138	0.00055	0.002413096	0.999999999998184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.692231	0.68500	0	.	.	4.67	-9.13	0.00601	-1.725000	0.01963	-1.700000	0.04889	-1.666000	0.00806	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1118:0.2002:0.1587:0.5293	3.849	0.08457	167	0.93508	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1156.83	34	chr9	95107205	.	T	C	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.931;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.862;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1192	5	0	1	0
chr9	96937146	96937146	G	C	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon5:c.G1065C:p.K355N,NUTM2G:NM_001170741:exon5:c.G1065C:p.K355N	.	412	1099	11	0	0	11	0.00497963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0075	0.00219649	0.0080	0.0013	0.0017	0.0004	0.0044	0.0125	0.0057	0.0040	0.0071344	1103	154602	rs201133792	0.0096	0.0096	0.0096	0.0096	0.0110	0.0094	0.0094	0.0108	0.0107	0.0012	0.0028	0.0163	0.0001	0.0060	0.0026	0.0110	0.0070	0.0048	0.0073	0.0073	0.0072	0.0073	0.0118	0.0069	0.0068	0.0112	0.0109	0.0016	0.0395	0.0043	0.0150	0	0.0046	0	0.0118	0.0047	0.0044	0.06	0.49613	T	0.322	0.37310	T	0.999	0.77913	D	0.948	0.68536	D	0.353820	0.04262	N	1.449150	1	0.08975	N	2.19	0.61577	M	1.87	0.24085	T	-1.34	0.33401	N	0.143	0.14622	-0.9917	0.32167	T	0.083	0.32585	T	8	0.004984796	0.00107	T	.	.	.	0.040	0.10527	0.295	0.25881	0.0297737177859	0.01360	0.04538232013452208	0.04482	.	.	0.518427968025	0.41405	T	0.004452	0.03857	T	-0.662091	0.00061	T	-0.713436	0.05119	T	0.0117335170477585	0.00180	T	0.688231	0.29741	T	0.19152334	0.40783	0.13347079	0.32004	0.19152334	0.40783	0.13347079	0.32003	-5.744	0.46389	T	.	.	0.462	0.62791	A	.;.	.;.	1.693893	0.21581	15.26	0.99467177670060147	0.66154	0.02852	0.07611	N	AEFCI	0.029431	0.02777	N	-0.404442987366544	0.25313	1.373185	-0.695335263320555	0.17077	0.9063873	9.12418218255995E-6	0.01202	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	.	.	.	0.702000	0.25307	0.139000	0.15146	0.207000	0.17954	0.055000	0.21596	0.002000	0.18203	0.016000	0.10718	.	.	.	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	0.003326	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	699.83	34	chr9	96937146	.	G	C	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.436;DP=226;ExcessHet=0;FS=9.021;MLEAC=1;MLEAF=0.083;MQ=52.33;MQRankSum=-3.398;QD=13.72;ReadPosRankSum=-2.122;SOR=0.132	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	5	0	1	0
chr9	98126721	98126721	C	T	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon11:c.G1274A:p.R425Q,CORO2A:NM_052820:exon11:c.G1274A:p.R425Q	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0165203423516	0.0022	0.000599042	0.0023	0.0007	0.0022	0	0.0005	0.0033	0.0066	0.0008	0.0005175	80	154602	rs146552729	0.0029	0.0029	0.0030	0.0028	0.0085	0.0028	0.0028	0.0066	0.0059	0.0007	0.0022	0.0035	0	0.0003	0.0085	0.0033	0.0029	0.0012	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0024	0.0032	0	0.0003	0.0034	0.0034	0.0047	0.0015	0.43	0.09543	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	0.413993	0.04608	N	1.359670	1	0.08975	N	0.145	0.08828	N	-0.57	0.71307	T	0.36	0.03700	N	0.116	0.10483	-1.0274	0.21299	T	0.082	0.32411	T	10	0.0040777028	0.00080	T	0.01652	0.37815	T	0.045	0.12272	.	.	0.461583377977	0.45782	0.13431117134133153	0.13355	0.244063042703	0.26914	0.182159513235	0.00115	T	0.019899	0.15767	T	-0.613249	0.00121	T	-0.654186	0.08663	T	0.0019479975708776	0.00020	T	0.40026	0.10182	T	0.0133296875	0.00056	0.020996915	0.00167	0.0133296875	0.00055	0.020996915	0.00167	-3.828	0.21223	T	.	.	0.067	0.03661	B	.;.	.;.	-2.058268	0.00089	0.002	0.60507674706301029	0.06480	0.00152	0.00917	N	AEFBI	0.031559	0.03400	N	-2.19257247478286	0.00080	0.003414471	-2.2567319725513	0.00083	0.003661872	0.999999999958102	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.17	-10.3	0.00281	-3.035000	0.00699	-4.221000	0.02273	-2.817000	0.00181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2532:0.1057:0.0854:0.5557	3.694	0.07888	722	0.55239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.010870	0.005848	0.050000	0.017241	0.009146	0.000000	0.08333	700.83	34	chr9	98126721	.	C	T	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.34;SOR=0.789	GT:AD:DP:GQ:PL	0/1:41,29:70:99:711,0,970	5	0	1	0
chr9	98784846	98784846	T	C	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon3:c.A893G:p.H298R	Nephronophthisis 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0186646968526	.	.	8.311e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs752544013	3.422e-06	3.42e-06	2.724e-06	4.128e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.021	0.58089	D	0.96	0.55278	D	0.832	0.59730	P	0.000033	0.55875	D	0.192689	0.743718	0.81001	D	-0.575	0.02294	N	-0.09	0.64086	T	-2.77	0.58733	D	0.638	0.65074	-0.6364	0.63299	T	0.209	0.56839	T	10	0.57216805	0.65380	D	0.018665	0.40809	T	0.293	0.61272	0.504	0.59770	0.671516610661	0.66874	0.533078520538107	0.53232	0.144789491549	0.16360	0.670108616352	0.62853	T	0.047107	0.27625	T	0.0960861	0.63867	D	-0.0997555	0.63416	T	0.718621730804443	0.41629	D	0.818618	0.47570	T	0.26143122	0.49202	0.20693853	0.44931	0.26143122	0.49202	0.20693853	0.44930	-11.02	0.79768	D	.	.	0.15	0.33156	B	.	.	3.900689	0.56818	23.8	0.99309330946952967	0.58943	0.91794	0.54277	D	AEFDBI	0.478692	0.52115	N	0.322027162867507	0.57281	3.894841	0.387909125796852	0.60818	4.27388	0.999999879665554	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	4.766000	0.61975	7.835000	0.70278	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.197	0.59169	786	0.46839	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	856.83	36	chr9	98784846	.	T	C	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.535;DP=233;ExcessHet=0;FS=1.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.381;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	5	0	1	0
chr9	98790160	98790160	T	C	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon2:c.A806G:p.K269R	Nephronophthisis 16, Autosomal recessive	425	1088	8	1	0	10	0.00457457	.	.	.	564381	Nephronophthisis_16|not_provided	MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.012276926787	0.0004	0.000399361	0.0005	0	8.679e-05	0	0	0.0005	0	0.0017	0.0004398	68	154602	rs200902480	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0013	0.0012	0.0002	0.0001	3.899e-05	0	0	0.0019	0.0003	0.0003	0.0015	0.0003	0.0003	0.0004	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0	0	6.531e-05	0	0	0	0	0.0006	0.0005	0.0015	0.479	0.08261	T	0.267	0.22561	T	0.0	0.02946	B	0.003	0.08700	B	0.000034	0.55875	N	0.187667	0.680317	0.81001	D	0.85	0.21244	L	0.61	0.53516	T	-0.86	0.23372	N	0.192	0.21056	-1.0118	0.26353	T	0.069	0.28180	T	10	0.014547795	0.00306	T	0.012277	0.30711	T	0.043	0.11576	.	.	0.431931272081	0.42809	0.45630968555688123	0.45548	0.0822081401259	0.09269	0.384411633015	0.22880	T	0.011363	0.10151	T	-0.514835	0.00471	T	-0.54768	0.17549	T	0.00623534983553749	0.00069	T	0.630337	0.24523	T	0.046423115	0.07767	0.056328055	0.10045	0.049909208	0.08935	0.051545247	0.08317	-5.486	0.41737	T	.	.	0.065	0.01986	B	.	.	1.903254	0.24170	16.30	0.99241337673755348	0.56565	0.67075	0.33302	D	AEFDBHCI	0.205721	0.33204	N	-0.44435713615956	0.23931	1.288656	-0.262823560615275	0.29333	1.642562	0.999999911595728	0.74766	0.706548	0.73137	0	0.694456	0.67091	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.48	3.16	0.35406	1.964000	0.40085	3.364000	0.37882	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.937000	0.47636	0.0:0.1676:0.0:0.8324	8.029	0.29615	792	0.45996	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	615.83	65	chr9	98790160	.	T	C	615.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.112;DP=234;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-1.479;SOR=0.972	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr9	99067046	99067046	C	A	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon40:c.C3816A:p.S1272R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0115175452105	.	.	1.657e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs768918828	3.421e-06	3.42e-06	1.362e-06	5.502e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.026	0.55759	D	0.914	0.50529	P	0.367	0.43430	B	0.002224	0.36970	N	0.352946	0.965128	0.25952	N	1.43	0.35840	L	0.96	0.42888	T	-2.9	0.60827	D	0.304	0.44474	-0.9527	0.40503	T	0.095	0.35950	T	10	0.22438735	0.39241	T	0.011518	0.29227	T	0.122	0.33800	0.545	0.65873	0.604137120487	0.60097	0.5154898385877771	0.51471	0.194765962238	0.21814	0.350422799587	0.17984	T	0.156458	0.49864	T	-0.155951	0.27384	T	-0.446304	0.28105	T	0.859438061714172	0.51000	D	0.724828	0.33863	T	0.22720607	0.45416	0.2868767	0.54697	0.22720607	0.45416	0.2868767	0.54697	-6.553	0.50694	T	.	.	0.373	0.58029	A	.;.	.;.	3.570538	0.50282	22.9	0.9956031756779915	0.71707	0.58336	0.30615	D	AEFDGBI	0.423279	0.48893	N	0.0993607920470541	0.46431	2.883676	0.11200600240932	0.45162	2.784289	0.999999709708993	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.96	5.06	0.67838	0.534000	0.22807	2.757000	0.34577	0.599000	0.40250	0.052000	0.21487	0.999000	0.35428	0.998000	0.85391	0.0:0.7722:0.0:0.2278	8.508	0.32358	824	0.40336	Collagenase NC10/endostatin|Collagenase NC10/endostatin;Collagenase NC10/endostatin|Collagenase NC10/endostatin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	826.83	33	chr9	99067046	.	C	A	826.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.913;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	5	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	131.92	92	chr9	99218703	.	C	T	131.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.574;DP=476;ExcessHet=0;FS=276.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.31;SOR=8.662	GT:AD:DP:GQ:PL	0/0:73,20:93:10:0,10,1437	5	0	1	0
chr9	101477011	101477011	A	C	exonic	PGAP4	.	nonsynonymous SNV	PGAP4:NM_001303108:exon2:c.T82G:p.F28V,PGAP4:NM_001371233:exon2:c.T82G:p.F28V,PGAP4:NM_032342:exon2:c.T82G:p.F28V,PGAP4:NM_001303107:exon3:c.T82G:p.F28V	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0069	0.00958466	0.0024	0.0261	0.0012	0	0	1.516e-05	0	0.0001	0.0022898	354	154602	rs80250728	0.0008	0.0008	0.0009	0.0007	0.0285	0.0007	0.0007	0.0270	0.0264	0.0285	0.0011	0	0	0	0.0011	6.295e-06	0.0018	0.0001	0.0070	0.0070	0.0073	0.0067	0.0247	0.0066	0.0065	0.0235	0.0230	0.0247	0	0.0016	0	0	0	0.0034	2.941e-05	0.0043	0	0.213	0.19430	T	0.404	0.14818	T	0.0	0.02946	B	0.001	0.04355	B	0.003405	0.34985	N	0.284898	0.83035	0.28767	N	0.205	0.09354	N	.	.	.	-0.32	0.12283	N	0.16	0.16725	-1.0710	0.09194	T	0.012	0.04653	T	9	0.0028095543	0.00044	T	.	.	.	0.037	0.09474	.	.	0.0666544352282	0.05500	0.546552376077697	0.54581	0.518840836325	0.49725	0.558231949806	0.47018	T	0.01941	0.15470	T	-0.567274	0.00230	T	-0.568029	0.15631	T	0.0155438330279971	0.00353	T	0.672333	0.28093	T	0.04455221	0.07143	0.035835132	0.02910	0.04455221	0.07142	0.035835132	0.02909	-2.631	0.06742	T	.	.	0.104	0.18663	B	.;.;.	.;.;.	2.231896	0.28490	17.81	0.9668227092640993	0.30704	0.89177	0.49486	D	AEFDBI	0.448194	0.50352	N	-0.434210411551718	0.24279	1.309799	-0.226082207488269	0.30605	1.724637	0.999532538444472	0.40238	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.63	3.18	0.35615	1.505000	0.35344	4.064000	0.41610	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6591:0.1643:0.1765:0.0	4.627	0.11868	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1268.83	35	chr9	101477011	.	A	C	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.189;DP=295;ExcessHet=0;FS=3.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.376;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	5	0	1	0
chr9	103003226	103003226	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon3:c.G143A:p.R48K	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00595736256861	7.7e-05	.	0.0002	0	0.0007	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs201912645	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	2.988e-05	0.0005	0.0009	0	1.873e-05	0.0003	0.0003	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	2.412e-05	0	0.0004	0.0009	0	0	0	0.0003	0.0005	0.0002	0.152	0.24468	T	0.419	0.14158	T	1.0	0.90584	D	0.996	0.84481	D	0.000243	0.46924	D	0.000000	0.740306	0.29741	N	1.835	0.48228	L	2.07	0.20387	T	-1.41	0.34795	N	0.373	0.51940	-1.0294	0.20649	T	0.107	0.39027	T	10	0.13712871	0.26087	T	0.005957	0.15549	T	0.115	0.32236	.	.	0.605825054984	0.60266	0.05628943387359948	0.05569	0.00706923751488	0.00622	0.478097707033	0.35795	T	0.005053	0.04483	T	-0.279364	0.10735	T	-0.322908	0.42255	T	0.177995219826698	0.19108	T	0.508249	0.16142	T	0.18651861	0.40063	0.18016365	0.40797	0.18651861	0.40063	0.18016365	0.40796	-3.326	0.14074	T	.	.	0.648	0.70868	P	.;.;.	.;.;.	3.976436	0.58430	24.0	0.99498879810145446	0.67916	0.87595	0.47186	D	AEFI	0.485665	0.52516	N	0.504790424672532	0.67373	5.072929	0.448112578011314	0.64596	4.718375	0.0459338290494994	0.14671	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	4.129000	0.57713	8.748000	0.78215	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.240000	0.23001	0.0:0.0:1.0:0.0	13.848	0.62978	505	0.75648	Cylicin, N-terminal;Cylicin, N-terminal;Cylicin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	918.83	76	chr9	103003226	.	G	A	918.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=250;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.421;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	5	0	1	0
chr9	103005182	103005182	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G551A:p.G184D	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0043	0.00319489	0.0037	0.0012	0.0035	0	0.0006	0.0059	0.0057	6.261e-05	0.0034993	541	154602	rs10990424	0.0050	0.0050	0.0052	0.0048	0.0059	0.0049	0.0049	0.0058	0.0057	0.0013	0.0040	0.0031	5.051e-05	0.0012	0.0051	0.0059	0.0053	0.0002	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0013	0.0022	0.0048	0.0046	0	0.0005	0.0068	0.0052	0.0057	0	0.431	0.09514	T	0.843	0.03579	T	0.047	0.21998	B	0.045	0.24526	B	0.929657	0.07527	N	1.043410	1	0.08975	N	-0.075	0.04822	N	2.54	0.13916	T	1.15	0.01151	N	0.083	0.05929	-0.9386	0.42837	T	0.013	0.04890	T	10	0.0052046776	0.00113	T	.	.	.	0.094	0.27141	.	.	0.0716867268079	0.06686	3.314550284973656E-4	0.00030	0.00189985442068	0.00161	0.267156481743	0.05773	T	0.002139	0.01547	T	-0.731476	0.00023	T	-0.821572	0.01421	T	0.0130609101285253	0.00228	T	0.357364	0.08134	T	0.033441957	0.03564	0.06643014	0.13606	0.033441957	0.03564	0.06643014	0.13605	-3.054	0.10775	T	.	.	0.080	0.07985	B	.;.;.	.;.;.	-0.971801	0.00812	0.027	0.24856002066686481	0.01119	0.00185	0.01079	N	AEFGI	0.038695	0.05515	N	-1.55910071499965	0.01482	0.06469483	-1.61273809705862	0.01580	0.07162994	6.62113550440601E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	-4.78	0.02975	-1.507000	0.02373	-11.495000	0.00600	-0.279000	0.06446	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1828:0.0:0.8172:0.0	15.733	0.77589	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.010101	0.013587	0.008772	0.000000	0.008621	0.003049	0.000000	0.08333	712.83	33	chr9	103005182	.	G	A	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=235;ExcessHet=0;FS=5.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.42;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	5	0	1	0
chr9	104127290	104127290	C	T	exonic	SMC2	.	nonsynonymous SNV	SMC2:NM_001042550:exon20:c.C2600T:p.S867L,SMC2:NM_001042551:exon20:c.C2600T:p.S867L,SMC2:NM_001265602:exon20:c.C2600T:p.S867L,SMC2:NM_006444:exon20:c.C2600T:p.S867L	.	464	1050	7	1	0	9	0.00426743	.	.	.	2826247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.232	.	0.0037	0.0061901	0.0041	0.0054	0.0025	0	0.0002	0.0036	0.0047	0.0107	0.0039327	608	154602	rs11554260	0.0037	0.0037	0.0035	0.0038	0.0087	0.0036	0.0035	0.0082	0.0080	0.0057	0.0034	0.0140	2.554e-05	0.0002	0.0074	0.0033	0.0044	0.0087	0.0044	0.0044	0.0046	0.0041	0.0118	0.0041	0.0040	0.0094	0.0085	0.0061	0	0.0038	0.0138	0	9.486e-05	0.0034	0.0035	0.0061	0.0118	0.24	0.17701	T	0.228	0.25286	T	0.0	0.02946	B	0.001	0.04355	B	0.000403	0.44736	N	0.231204	0.830933	0.34917	D	1.095	0.27400	L	-1.14	0.77843	T	-3.26	0.65397	D	0.069	0.04188	-0.8385	0.52746	T	0.181	0.52889	T	10	0.004752964	0.00100	T	.	.	.	0.232	0.53354	.	.	0.326837869879	0.32287	0.21613856172506773	0.21529	0.104354662582	0.11803	0.316862046719	0.12946	T	0.403475	0.76021	T	-0.505113	0.00535	T	-0.492645	0.23114	T	0.0534391673143431	0.06095	T	0.766723	0.39447	T	0.10288271	0.24313	0.16452606	0.38109	0.10288271	0.24313	0.16452606	0.38108	-2.93	0.09446	T	.	.	0.069	0.04396	B	.;.;.	.;.;.	2.227053	0.28424	17.79	0.99249266645828593	0.56825	0.91202	0.53060	D	AEFBI	0.157243	0.28272	N	-0.544284284310448	0.20663	1.090942	-0.369521418850401	0.25912	1.427892	0.221798103411777	0.18363	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.05	2.04	0.25787	1.203000	0.31890	0.424000	0.18252	-0.182000	0.10109	0.978000	0.35038	0.034000	0.21380	0.955000	0.50612	0.0:0.7124:0.0:0.2876	9.848	0.40210	758	0.50837	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Likely benign	0	0	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	0.005040	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	287.83	24	chr9	104127290	.	C	T	287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=169;ExcessHet=0;FS=6.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.611;SOR=2.476	GT:AD:DP:GQ:PL	0/1:22,11:33:99:298,0,616	5	0	1	0
chr9	104526284	104526284	T	C	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.A926G:p.Y309C	.	.	.	.	.	.	.	.	.	.	.	3466046	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.00792634460891	.	.	5.168e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs763903725	3.315e-05	3.352e-05	1.237e-05	5.417e-05	0.0005	2.568e-05	2.271e-05	0.0004	0.0004	3.075e-05	0	0	0	0	0.0002	0	3.356e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.006	0.70582	D	0.92	0.51019	P	0.24	0.38599	B	0.026295	0.25944	U	0.172974	1	0.08975	N	0.255	0.09829	N	1.21	0.37230	T	-1.21	0.30762	N	0.399	0.43995	-1.0257	0.21853	T	0.056	0.23488	T	10	0.13247585	0.25215	T	0.007926	0.21033	T	0.143	0.38195	0.506	0.60078	0.536474986538	0.53298	0.12085492895482007	0.12012	0.224564625669	0.24988	0.31965470314	0.13369	T	0.003577	0.02980	T	-0.348451	0.04825	T	-0.430885	0.29835	T	0.128734165586984	0.15264	T	0.0722928	0.00527	T	0.1601036	0.35928	0.10665017	0.25660	0.1601036	0.35927	0.10665017	0.25660	-2.199	0.04035	T	.	.	0.103	0.18331	B	.	.	2.652567	0.34540	19.66	0.97809307287816605	0.36116	0.06181	0.12165	N	AEFBI	0.101246	0.20340	N	-0.242867083379482	0.31388	1.759541	-0.316303303672748	0.27572	1.530875	1.14636412095647E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.02	4.02	0.45968	1.628000	0.36672	1.735000	0.28356	0.661000	0.55757	0.005000	0.17040	0.017000	0.20586	0.263000	0.23594	0.0:0.0:0.0:1.0	9.506	0.38213	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	.	.	.	.	.	.	.	.	0.08333	476.83	33	chr9	104526284	.	T	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=192;ExcessHet=0;FS=3.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.787;SOR=1.911	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	5	0	1	0
chr9	104535945	104535945	G	A	exonic	OR13C3	.	nonsynonymous SNV	OR13C3:NM_001001961:exon1:c.C869T:p.A290V	.	427	1086	9	0	0	9	0.00412655	.	.	.	2673512	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00653439909981	0.0004	0.000199681	0.0002	0.0011	0	0	0	0.0001	0.0011	6.057e-05	0.0001488	23	154602	rs147645466	6.088e-05	6.156e-05	6.398e-05	5.776e-05	0.0011	5.028e-05	4.672e-05	0.0008	0.0007	0.0011	0	0	2.519e-05	0	0.0005	3.597e-05	0.0001	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0	0.0003	0	0	0	4.412e-05	0	0	0.246	0.17353	T	0.265	0.22694	T	0.199	0.29618	B	0.036	0.22909	B	0.065944	0.21844	N	0.329934	0.98879	0.24371	N	-0.58	0.02282	N	1.29	0.35775	T	0.44	0.03243	N	0.448	0.48596	-1.0711	0.09173	T	0.034	0.14596	T	10	0.018723935	0.00410	T	0.006534	0.17215	T	0.070	0.20419	.	.	0.317378411342	0.31341	0.07118111380842833	0.07055	0.0804840077464	0.09054	0.281641721725	0.07723	T	2.0E-4	0.00038	T	-0.447981	0.01161	T	-0.472618	0.25235	T	0.0320151771118953	0.02308	T	0.814719	0.46890	T	0.0592777	0.12027	0.0813851	0.18491	0.0592777	0.12027	0.0813851	0.18490	-3.024	0.10442	T	.	.	0.121	0.24967	B	.;.	.;.	3.030376	0.40590	21.2	0.89025553883385522	0.18449	0.29156	0.23747	N	AEFI	0.099531	0.20034	N	-0.551695527151666	0.20431	1.076963	-0.462160937750342	0.23205	1.264242	3.62390119953664E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.82	0.32061	1.199000	0.31842	-0.264000	0.10402	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.450000	0.27895	0.176:0.2032:0.6209:0.0	4.474	0.11143	665	0.61472	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2001.83	34	chr9	104535945	.	G	A	2001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=334;ExcessHet=0;FS=3.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.602;SOR=0.438	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	5	0	1	0
chr9	104598728	104598728	C	G	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.G686C:p.S229T	.	434	1086	2	0	0	2	0.000919963	.	.	.	700709	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0097	0.0129792	0.0031	0.0336	0.0018	0	0	8.992e-05	0.0033	0.0001	0.0031242	483	154602	rs73508187	0.0011	0.0011	0.0012	0.0009	0.0370	0.0010	0.0010	0.0352	0.0346	0.0370	0.0019	0	0	0	0.0016	5.666e-05	0.0024	0.0002	0.0091	0.0091	0.0096	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0035	0	0	0	0	0.0001	0.0076	0.0002	0.033	0.44358	D	0.185	0.28958	T	0.075	0.24198	B	0.139	0.33484	B	0.986370	0.07874	U	1.008970	1	0.08975	N	1.17	0.29769	L	1.12	0.38718	T	-0.99	0.26200	N	0.052	0.02366	-0.9728	0.36605	T	0.015	0.06090	T	10	0.0040693283	0.00079	T	.	.	.	0.017	0.02790	.	.	0.376089632046	0.37223	0.11640499819145005	0.11568	0.27843950932	0.30327	0.177689597011	0.00074	T	0.002802	0.02196	T	-0.715189	0.00030	T	-0.774334	0.02629	T	0.00468554343554344	0.00050	T	0.487551	0.14930	T	0.042243537	0.06371	0.04149688	0.04728	0.042243537	0.06371	0.04149688	0.04728	-4.333	0.28637	T	.	.	0.074	0.04932	B	.	.	0.353942	0.07267	3.873	0.91077780622604088	0.20330	0.00500	0.02358	N	AEFI	0.047256	0.07937	N	-1.11282026295405	0.06413	0.2951761	-1.2017421247507	0.05882	0.2815481	1.47301043707482E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	-1.21	0.09033	-3.059000	0.00686	-20.000000	0.00162	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2959:0.4158:0.2883	5.192	0.14538	892	0.26670	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1745.83	118	chr9	104598728	.	C	G	1745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=653;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.055;SOR=0.662	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1099	5	0	1	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2273.83	163	chr9	104694802	.	T	G	2273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=613;ExcessHet=0;FS=1.935;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=0.947;QD=13.95;ReadPosRankSum=-0.225;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1286	5	0	1	0
chr9	105773866	105773866	T	C	exonic	TMEM38B	.	nonsynonymous SNV	TMEM38B:NM_018112:exon6:c.T662C:p.I221T	Osteogenesis imperfecta, type XIV	431	1090	1	0	0	1	0.000458505	0.0025	0.04	.	1289535	not_provided|Osteogenesis_imperfecta|Osteogenesis_imperfecta_type_14	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0014029,MedGen:C3554428,OMIM:615066,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0125699326606	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0033	0.0003	0.0002523	39	154602	rs201882609	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	6.035e-05	0.0002	0.0034	0	0	0.0017	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0	0	0.0001	0.0037	0	0	0	0.0002	0.0005	0.0004	0.063	0.36709	T	0.262	0.22895	T	0.425	0.35474	B	0.192	0.36449	B	0.054881	0.22688	N	0.502200	0.707077	0.30049	N	1.64	0.41913	L	0.83	0.47815	T	-2.7	0.57599	D	0.251	0.28381	-0.9395	0.42695	T	0.096	0.36263	T	10	0.022871524	0.00583	T	0.01257	0.31260	T	0.162	0.41843	.	.	0.388174495139	0.38433	0.30291045580388926	0.30204	0.118623958842	0.13357	0.582552194595	0.50444	T	0.453524	0.79343	T	-0.305472	0.08153	T	-0.362307	0.37785	T	0.0406170578717652	0.03802	T	0.720728	0.33361	T	0.15174858	0.34481	0.15433234	0.36226	0.15174858	0.34481	0.15433234	0.36225	-3.484	0.16209	T	.	.	0.300	0.56031	B	.;.	.;.	2.816473	0.37091	20.4	0.9550207600030709	0.27094	0.88125	0.47917	D	AEFI	0.434898	0.49576	N	-0.0290732535172498	0.40542	2.409439	0.0572413986611293	0.42423	2.56568	0.0348817441288526	0.14175	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.7	4.7	0.58776	4.047000	0.57095	7.655000	0.63911	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:0.0:0.0:1.0	10.720	0.45232	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	1364.83	35	chr9	105773866	.	T	C	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.535;DP=269;ExcessHet=0;FS=0.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.496;SOR=0.546	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1375,0,1155	5	0	1	0
chr9	106925620	106925622	CCA	-	exonic	ZNF462	.	nonframeshift deletion	ZNF462:NM_001347997:exon3:c.1708_1710del:p.P571del,ZNF462:NM_021224:exon3:c.1708_1710del:p.P571del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0.0001	0	1.524e-05	0	0	1.29e-05	2	154602	rs781461843	6.159e-06	6.156e-06	5.447e-06	6.878e-06	1.16e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	1.16e-05	1.975e-05	1.971e-05	3.863e-05	0	2.945e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2362.79	95	chr9	106925619	.	GCCA	G	2362.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.595;DP=389;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.493;SOR=0.649	GT:AD:DP:GQ:PL	0/1:44,60:104:99:2373,0,1656	5	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	743.02	87	chr9	106974250	.	T	C	743.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.647;DP=598;ExcessHet=1.383;FS=389.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,108,1710:.	3	0	3	0
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	734.89	37	chr9	106974252	.	G	A	734.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.601;DP=532;ExcessHet=1.383;FS=389.593;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	4	0	2	0
chr9	106974252	106974252	G	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216C:p.D1406H,ZNF462:NM_021224:exon9:c.G6811C:p.D2271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0471795829052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.39	0.05710	T	-1.36	0.61580	N	0.875	0.89353	-0.8337	0.53061	T	0.231	0.59645	T	10	0.49586242	0.61262	T	0.04718	0.62801	D	0.360	0.68052	0.394	0.41935	0.147330786459	0.14319	0.7743925162910649	0.77389	1.96447962958	0.93503	0.92381799221	0.98600	D	0.018404	0.22976	T	0.19969	0.73863	D	0.0490645	0.73522	D	0.889481544494629	0.54020	D	0.967503	0.88224	D	0.23358797	0.46165	0.23072106	0.48183	0.23358797	0.46165	0.23072106	0.48182	-14.055	0.93275	D	.	.	0.999	0.98631	P	.;.;.	.;.;.	5.292259	0.88853	29.8	0.99610339763523792	0.74753	0.99345	0.94800	D	AEFBI	0.908733	0.86444	D	0.450547442356911	0.64232	4.673381	0.56578814992134	0.72504	5.820091	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	734.89	37	chr9	106974252	.	G	C	734.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.601;DP=532;ExcessHet=1.383;FS=389.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	5	0	1	0
chr9	108934490	108934490	G	C	exonic	ABITRAM	.	nonsynonymous SNV	ABITRAM:NM_017832:exon1:c.G4C:p.A2P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00549873562115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.50676	T	0.088	0.40586	T	0.145	0.27759	B	0.064	0.27215	B	0.324091	0.14222	N	0.700919	0.978351	0.25254	N	0	0.06538	N	.	.	.	-0.43	0.14390	N	0.188	0.26717	-1.0428	0.16473	T	0.050	0.21300	T	9	0.19230625	0.34953	T	0.005499	0.14166	T	0.067	0.19503	0.22	0.14224	0.460795861206	0.45704	0.40657100883816727	0.40573	0.242183988922	0.26734	0.648727655411	0.59806	T	0.03001	0.21373	T	-0.0636714	0.42330	T	-0.329236	0.41554	T	0.162559419870377	0.18058	T	0.556944	0.19352	T	0.14730513	0.33681	0.12140163	0.29291	0.14730513	0.33681	0.12140163	0.29290	-6.802	0.52574	T	.	.	0.161	0.35581	B	.;.	.;.	3.622739	0.51274	23.1	0.9907666533292212	0.51858	0.20279	0.20982	N	ALL	0.188901	0.31617	N	-0.343143748351902	0.27524	1.510842	-0.228814434434539	0.30509	1.718369	0.999999999998808	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.22	0.95	0.18697	0.607000	0.23906	4.723000	0.44515	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.990000	0.65344	0.1744:0.1514:0.5184:0.1558	2.177	0.03629	885	0.28214	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	805.83	36	chr9	108934490	.	G	C	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.574;DP=212;ExcessHet=0;FS=1.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.68;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	5	0	1	0
chr9	109149715	109149715	G	C	exonic	FRRS1L	.	nonsynonymous SNV	FRRS1L:NM_014334:exon2:c.C244G:p.P82A	Epileptic encephalopathy, early infantile, 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2091793	Developmental_and_epileptic_encephalopathy,_37	MONDO:MONDO:0014859,MedGen:C4310770,OMIM:616981	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.00485802168796	.	.	8.439e-06	0	8.924e-05	0	0	0	0	0	6.5e-06	1	154602	rs761224976	8.924e-06	8.893e-06	1.093e-05	6.895e-06	2.237e-05	4.98e-06	3.84e-06	4.57e-06	3.33e-06	0	2.237e-05	0	0	0	0	9.03e-06	1.661e-05	1.161e-05	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	.	.	.	0.116	0.36497	T	0.999	0.77913	D	0.994	0.82059	D	0.000894	0.41231	U	0.159049	1	0.81001	D	1.845	0.48678	L	.	.	.	.	.	.	0.48	0.51494	-0.5323	0.67454	T	0.274	0.64546	T	9	0.42568034	0.57157	T	0.004858	0.12192	T	.	.	0.411	0.44723	0.721440308683	0.71898	0.5840044807641095	0.58329	0.0826449956307	0.09327	0.904033780098	0.96874	D	0.032282	0.22418	T	0.163474	0.70521	D	0.0799084	0.75572	D	0.532081961631775	0.33811	D	0.776522	0.40874	T	0.12024473	0.28299	0.26876813	0.52750	0.12024473	0.28298	0.26876813	0.52749	-3.907	0.22408	T	.	.	0.213	0.44148	B	.	.	3.803971	0.54833	23.5	0.98874279247962449	0.47702	0.99168	0.92232	D	AEFBI	0.821722	0.74222	D	0.667740078955153	0.77520	6.690721	0.723694364905211	0.84177	8.220144	0.999999999999981	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.79	5.79	0.91751	7.434000	0.79550	9.730000	0.81396	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.037	0.97560	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	909.83	35	chr9	109149715	.	G	C	909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.011;DP=264;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.428;SOR=0.531	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr9	109320221	109320221	A	C	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon1:c.T226G:p.S76A,EPB41L4B:NM_018424:exon1:c.T226G:p.S76A,EPB41L4B:NM_019114:exon1:c.T226G:p.S76A	.	.	.	.	.	.	.	.	.	.	.	3242233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.931893176239	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763606162	5.632e-05	6.362e-05	4.52e-05	6.784e-05	0.0009	4.552e-05	4.179e-05	0.0004	0.0003	0.0007	5.029e-05	0	0.0001	0	0.0009	3.068e-05	0.0002	5.079e-05	0.0001	0.0001	0.0001	0.0001	0.0001	7.664e-05	6.353e-05	6.962e-05	5.13e-05	0.0001	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.004	0.65419	D	0.02	0.58613	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999908	0.19694	N	0.345	0.11182	N	-1.7	0.83157	D	-0.16	0.09460	N	0.178	0.19190	-0.8448	0.52325	T	0.261	0.63197	T	9	0.15308103	0.28903	T	0.931893	0.99508	D	0.218	0.51265	0.446	0.50466	0.128874641272	0.12493	0.1433323694527278	0.14256	1.66441580669	0.89733	0.925073564053	0.98685	D	0.01937	0.15446	T	-0.232003	0.16384	T	-0.355698	0.38551	T	0.0944431409761061	0.11734	T	0.637336	0.30204	T	0.22604382	0.45277	0.099604584	0.23787	0.22604382	0.45277	0.099604584	0.23787	-0.854	0.00851	T	.	.	0.075	0.05491	B	.;.	.;.	3.342548	0.46062	22.2	0.95409948298424962	0.26873	0.48038	0.28117	N	AEFDGBCI	0.096941	0.19561	N	-0.790572863449719	0.13555	0.6685899	-0.743968196055662	0.15871	0.8368371	0.999999978666941	0.74766	0.72623	0.87236	0	0.541168	0.11318	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	2.94	-1.03	0.09586	3.231000	0.50995	2.446000	0.32792	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.3492:0.2448:0.406:0.0	3.329	0.06661	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003855	0.012500	0.004335	0.000000	0.000000	0.000000	0.003521	0.000000	0.08333	191.83	40	chr9	109320221	.	A	C	191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.245;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.375;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,748:.	5	0	1	0
chr9	109320412	109320412	C	A	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon1:c.G35T:p.R12L,EPB41L4B:NM_018424:exon1:c.G35T:p.R12L,EPB41L4B:NM_019114:exon1:c.G35T:p.R12L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.141143720582	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360779247	1.304e-05	2.189e-05	1.549e-05	1.021e-05	1.301e-05	6.99e-06	5.11e-06	6.58e-06	4.79e-06	0	0	0	0	0	0	1.301e-05	3.61e-05	0	6.846e-06	6.662e-06	1.333e-05	0	2.451e-05	0	0	.	.	2.451e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.005	0.74150	D	0.957	0.54824	D	0.159	0.34953	B	.	.	.	.	0.810829	0.34638	D	1.24	0.30952	L	-1.99	0.86722	D	-4.58	0.78976	D	0.155	0.16028	-0.4339	0.70936	T	0.360	0.72163	T	9	0.20545709	0.36773	T	0.141144	0.82357	D	0.262	0.57482	0.314	0.28935	0.618321381115	0.61523	0.5463969424117097	0.54565	2.42736044518	0.97262	0.838486433029	0.87864	D	0.190108	0.54454	T	0.0698303	0.60828	D	-0.13747	0.60337	T	0.971236526966095	0.69241	D	0.721828	0.33531	T	0.47485328	0.65587	0.60286313	0.76921	0.47485328	0.65588	0.60286313	0.76922	-15.526	0.97537	D	.	.	0.915	0.83809	P	.;.	.;.	3.835630	0.55468	23.6	0.97913293265833767	0.36829	0.38293	0.25956	N	ALL	0.155426	0.28062	N	-0.473249472689977	0.22960	1.229623	-0.594728230412134	0.19629	1.054055	0.999999999977658	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.43	0.322	0.15131	0.291000	0.18748	4.755000	0.44682	0.240000	0.18237	0.015000	0.19116	1.000000	0.68203	0.762000	0.36218	0.2347:0.7653:0.0:0.0	8.396	0.31720	865	0.32612	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	144.56	11	chr9	109320412	.	C	A	144.56	.	AC=2;AF=0.167;AN=12;DP=43;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=24.09;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,146	5	1	0	0
chr9	110496861	110496861	T	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon8:c.A1754G:p.N585S	.	438	1082	2	0	0	2	0.000923361	.	.	.	2427624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.00947903690562	0.0006	0.000199681	0.0007	0	0.0020	0	0	0.0013	0.0038	0	0.0003881	60	154602	rs199618001	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	6.19e-05	0.0002	0	0	0.0007	0	0.0009	0.0008	2.507e-05	0.0005	0.0005	0.0006	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	9.618e-05	0	0.0004	0	0	0.0004	0	0.0010	0	0	0.617	0.05357	T	0.02	0.58613	D	0.993	0.65571	D	0.841	0.60228	P	0.000001	0.84330	D	0.092019	0.922586	0.29211	N	1.385	0.34509	L	1.93	0.22881	T	-1.27	0.31981	N	0.48	0.55540	-1.0854	0.06335	T	0.066	0.27087	T	10	0.028874516	0.01016	T	0.009479	0.24832	T	0.134	0.36365	.	.	0.143184338766	0.13958	0.15945695633202217	0.15866	0.0965475191183	0.10902	0.413789838552	0.26981	T	0.012967	0.11300	T	-0.550312	0.00290	T	-0.613703	0.11685	T	0.0734299570322037	0.09124	T	0.849515	0.53247	T	0.2370901	0.46568	0.24958476	0.50533	0.2370901	0.46568	0.24958476	0.50532	-5.187	0.38809	T	.	.	0.086	0.10835	B	.;.;.	.;.;.	3.459544	0.48208	22.6	0.99803031132626341	0.88728	0.90509	0.51744	D	AEFBI	0.476320	0.51978	N	0.298016496458074	0.56047	3.769054	0.376181247682835	0.60098	4.193931	0.0821690839798335	0.15893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.478617	0.07155	0	.	.	5.71	5.71	0.89031	3.698000	0.54504	6.197000	0.54843	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1481:0.0:0.0:0.8519	10.235	0.42452	973	0.05605	HYR domain|HYR domain;HYR domain|HYR 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	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.08333	370.83	36	chr9	110496861	.	T	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.821;DP=228;ExcessHet=0;FS=4.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.29;SOR=0.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	5	0	1	0
chr9	111410111	111410111	G	C	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon22:c.C2480G:p.S827C,ECPAS:NM_001364931:exon22:c.C2498G:p.S833C,ECPAS:NM_001364929:exon23:c.C2480G:p.S827C,ECPAS:NM_001364930:exon23:c.C2480G:p.S827C	.	.	.	.	.	.	.	.	.	.	.	4127958	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0134913317445	.	.	6.709e-05	0	0	0.0007	0	3.112e-05	0	0	2.59e-05	4	154602	rs763180582	2.063e-05	2.052e-05	2.596e-05	1.523e-05	0.0002	1.463e-05	1.27e-05	6.542e-05	4.469e-05	0	2.293e-05	0	0.0002	0	0	5.413e-06	0.0003	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0.0005	0	0.028	0.47320	D	0.044	0.49663	D	.	.	.	.	.	.	0.104548	0.19698	N	0.565050	0.521443	0.31900	D	.	.	.	-0.25	0.67011	T	-2.63	0.59226	D	0.359	0.40063	-0.5996	0.64834	T	0.264	0.63534	T	10	0.20476255	0.36679	T	0.013491	0.32933	T	0.269	0.58381	0.532	0.64002	0.405336283486	0.40149	0.2573678270571798	0.25650	0.586809190243	0.54266	0.477605909109	0.35727	T	0.11466	0.43265	T	-0.243494	0.14907	T	-0.361837	0.37840	T	0.297230757763721	0.24889	T	0.933807	0.75196	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.11941	B	.;.;.	.;.;.	4.717274	0.75839	26.4	0.98639543969892263	0.44028	0.96261	0.68280	D	AEFBI	0.461862	0.51145	N	0.441689305118433	0.63734	4.612809	0.554762301491997	0.71729	5.699469	0.99947627789173	0.39898	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	4.009000	0.56822	11.809000	0.96880	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.860	0.99763	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	632.83	34	chr9	111410111	.	G	C	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=218;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=2;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	5	0	1	0
chr9	112111717	112111717	C	T	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.G1108A:p.V370M,SUSD1:NM_001282643:exon8:c.G1108A:p.V370M,SUSD1:NM_022486:exon8:c.G1108A:p.V370M	.	429	1082	11	0	0	11	0.00505747	.	.	.	723248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.097	0.0372635756711	0.0023	0.000998403	0.0022	0.0002	0.0042	0	0.0002	0.0031	0.0055	0.0001	0.0021798	337	154602	rs146611081	0.0030	0.0030	0.0029	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0004	0.0035	0.0135	0	7.488e-05	0.0068	0.0032	0.0037	0.0002	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0006	0	0.0024	0.0132	0	0	0.0068	0.0024	0.0028	0.0002	0.031	0.46129	D	0.007	0.70582	D	0.975	0.58077	D	0.424	0.45210	B	0.021106	0.26899	N	0.185929	1	0.08975	N	2.785	0.81254	M	-0.91	0.75670	T	-1.33	0.33197	N	0.228	0.26475	-0.5208	0.67884	T	0.371	0.73016	T	10	0.0047426224	0.00100	T	0.037264	0.57510	D	0.281	0.59861	.	.	0.506373324096	0.50276	0.568278895837355	0.56755	0.197480517235	0.22124	0.366599887609	0.20343	T	0.059504	0.31133	T	-0.426477	0.01557	T	-0.386219	0.34995	T	0.0231086612748035	0.01037	T	0.750125	0.37153	T	0.028860273	0.02288	0.05759965	0.10497	0.028860273	0.02288	0.05759965	0.10497	-7.218	0.55610	T	.	.	0.138	0.35393	B	.;.;.	.;.;.	0.431667	0.08022	4.739	0.99674541523092997	0.78846	0.04197	0.09704	N	AEFBI	0.067539	0.13282	N	-0.203300905073977	0.32998	1.867243	-0.366909802667865	0.25992	1.432796	0.999965599065644	0.48965	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.6	3.73	0.41982	-0.367000	0.07607	-2.215000	0.04046	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.8333:0.0:0.1667	9.495	0.38149	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.004076	0.008772	0.050000	0.017241	0.006098	0.000000	0.08333	799.83	33	chr9	112111717	.	C	T	799.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.885;DP=241;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.282;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr9	112262562	112262562	T	G	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244896:exon4:c.A188C:p.Q63P,PTBP3:NM_001375920:exon4:c.A173C:p.Q58P,PTBP3:NM_001163788:exon5:c.A389C:p.Q130P,PTBP3:NM_001244897:exon5:c.A389C:p.Q130P,PTBP3:NM_001244898:exon5:c.A491C:p.Q164P,PTBP3:NM_001375918:exon5:c.A380C:p.Q127P,PTBP3:NM_001163790:exon6:c.A482C:p.Q161P,PTBP3:NM_005156:exon6:c.A473C:p.Q158P	.	425	1073	22	2	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0345064811117	0.0013	0.00139776	0.0022	9.649e-05	0.0009	0	0.0008	0.0018	0.0044	0.0072	0.0018952	293	154602	rs144595337	0.0014	0.0014	0.0012	0.0016	0.0090	0.0013	0.0013	0.0071	0.0064	0.0002	0.0012	7.662e-05	2.537e-05	0.0011	0.0090	0.0010	0.0021	0.0070	0.0009	0.0009	0.0008	0.0010	0.0048	0.0008	0.0008	0.0033	0.0028	0.0002	0	0.0014	0	0	0.0010	0.0034	0.0011	0.0014	0.0048	0.019	0.50132	D	0.094	0.41573	T	0.991	0.64070	D	0.926	0.66095	D	0.000102	0.50451	D	0.178585	0.999837	0.49637	D	2.65	0.77586	M	0.34	0.79666	T	-2.78	0.70314	D	0.385	0.46462	0.432	0.89573	D	0.663	0.88287	D	10	0.008808792	0.00200	T	0.034506	0.55723	D	0.217	0.51112	.	.	0.610410000811	0.60727	0.668210128799659	0.66759	0.155271682527	0.17525	0.427526414394	0.28870	T	0.229421	0.59524	T	-0.239945	0.15356	T	-0.113296	0.62348	T	0.0578514235064228	0.06826	T	0.875612	0.58729	D	0.66151863	0.75980	0.6524627	0.79661	0.66151863	0.75981	0.6524627	0.79662	-7.902	0.62835	D	.	.	0.060	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.348243	0.46170	22.3	0.99523916324266826	0.69407	0.94007	0.59833	D	AEFBHCI	0.724574	0.67383	D	0.597539304070475	0.73020	5.898496	0.602351042160426	0.75112	6.253018	0.999999954581131	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	2.995000	0.49129	4.242000	0.42712	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.267	0.82413	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	0.011089	0.015152	0.012228	0.020468	0.000000	0.008621	0.012270	0.000000	0.08333	349.83	34	chr9	112262562	.	T	G	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.568;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.299;SOR=0.986	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	5	0	1	0
chr9	113049860	113049860	G	T	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon2:c.C190A:p.L64M,ZFP37:NM_001282518:exon2:c.C148A:p.L50M,ZFP37:NM_003408:exon2:c.C145A:p.L49M	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00346212193981	0.0033	0.00199681	0.0027	0.0008	0.0024	0	0.0003	0.0040	0.0022	0.0010	0.0027749	429	154602	rs151180938	0.0031	0.0031	0.0031	0.0031	0.0039	0.0031	0.0030	0.0034	0.0033	0.0005	0.0039	0.0101	0	0.0010	0.0009	0.0034	0.0033	0.0009	0.0027	0.0027	0.0029	0.0024	0.0045	0.0025	0.0024	0.0037	0.0033	0.0009	0.0011	0.0045	0.0063	0	0.0007	0	0.0039	0.0047	0.0002	0.14	0.25664	T	0.028	0.55341	D	1.0	0.90584	D	0.979	0.74454	D	0.005547	0.32703	N	0.000000	0.967908	0.25826	N	2.625	0.76847	M	2.18	0.18875	T	-1.41	0.35399	N	0.435	0.47395	-0.9971	0.30728	T	0.110	0.39651	T	10	0.010571986	0.00235	T	0.003462	0.07817	T	0.157	0.40909	.	.	0.490352026379	0.48669	0.1874091817490938	0.18658	0.285506253658	0.30955	0.480363190174	0.36107	T	0.151043	0.49080	T	-0.440642	0.01282	T	-0.40505	0.32797	T	0.0162499840716559	0.00398	T	0.765423	0.39669	T	0.16633254	0.36962	0.12035875	0.29047	0.16633254	0.36962	0.12035875	0.29046	-5.105	0.49852	T	.	.	0.233	0.50110	B	.;.;.	.;.;.	3.119800	0.42115	21.5	0.99472347411839857	0.66419	0.89153	0.49448	D	AEFBI	0.121613	0.23636	N	0.275146120482601	0.54893	3.653846	0.13701974044793	0.46457	2.891467	0.00114036447588044	0.08261	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	3.99	2.15	0.26590	1.892000	0.39382	2.645000	0.33778	-0.118000	0.14412	0.985000	0.35982	0.997000	0.33255	0.441000	0.27694	0.2019:0.0:0.7981:0.0	8.219	0.30690	865	0.32612	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	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1424.83	136	chr9	113049860	.	G	T	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.44;DP=314;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.854;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1226	5	0	1	0
chr9	113322875	113322875	G	A	exonic	WDR31	.	nonsynonymous SNV	WDR31:NM_001006615:exon6:c.C131T:p.T44I,WDR31:NM_001012361:exon7:c.C506T:p.T169I,WDR31:NM_145241:exon7:c.C503T:p.T168I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0686388016821	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269798587	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.01	0.65419	D	0.009	0.67890	D	0.963	0.57185	D	0.79	0.61644	P	0.026030	0.25988	N	0.432444	0.955954	0.37950	D	2.205	0.62170	M	-0.39	0.69158	T	-4.15	0.76496	D	0.638	0.65074	-0.0163	0.81916	T	0.431	0.77271	T	10	0.7746512	0.77360	D	0.068639	0.70508	D	0.490	0.77720	0.836	0.94356	0.867892837264	0.86661	0.5192266776445681	0.51845	0.475490453189	0.46723	0.434842884541	0.29872	T	0.046233	0.27362	T	-0.00485686	0.50982	T	-0.244753	0.50332	T	0.985506892204285	0.76478	D	0.919108	0.81930	D	0.23918046	0.46805	0.27071345	0.52965	0.23918046	0.46805	0.27071345	0.52964	-10.823	0.78957	D	.	.	0.305	0.73583	B	.;.;.;.	.;.;.;.	3.404412	0.47195	22.4	0.99866248802034951	0.94457	0.93718	0.58992	D	AEFDBIJ	0.352853	0.44547	N	0.340099124533668	0.58220	3.992925	0.283100416835468	0.54554	3.619884	0.838539996787476	0.24823	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	5.95	1.92	0.24912	2.321000	0.43465	2.120000	0.30714	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.4882:0.5118:0.0	17.742	0.88318	823	0.40596	.;WD40 repeat, conserved site|WD40-repeat-containing domain;.;WD40 repeat, conserved site|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	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1599.83	35	chr9	113322875	.	G	A	1599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.39;DP=297;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.058;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr9	113368345	113368345	C	T	exonic	BSPRY	.	nonsynonymous SNV	BSPRY:NM_001317943:exon5:c.C659T:p.T220I,BSPRY:NM_017688:exon5:c.C644T:p.T215I	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0041420352037	.	.	6.625e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs756270735	5.609e-05	5.609e-05	4.22e-05	7.013e-05	0.0005	4.61e-05	4.236e-05	0.0004	0.0004	0	0	0	0	0	0.0005	2.338e-05	9.934e-05	0.0005	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	0.014	0.53172	D	0.095	0.39492	T	0.751	0.43285	P	0.171	0.35348	B	0.000355	0.45440	D	0.258522	0.575366	0.32329	D	1.79	0.46772	L	3.24	0.06845	T	-1.58	0.38151	N	0.386	0.42737	-1.0311	0.20099	T	0.016	0.06473	T	10	0.097669095	0.17606	T	0.004142	0.09931	T	0.088	0.25558	0.406	0.43902	0.219573609325	0.21563	0.44603263795760356	0.44521	0.118472591172	0.13338	0.484208762646	0.36636	T	0.009762	0.08861	T	-0.406158	0.02109	T	-0.471763	0.25328	T	0.0909284431203432	0.11328	T	0.70423	0.31438	T	0.097221375	0.22913	0.104008384	0.24970	0.097221375	0.22912	0.104008384	0.24969	-4.677	0.33125	T	.	.	0.194	0.41526	B	.	.	1.730113	0.22019	15.45	0.99826097167496664	0.90852	0.53318	0.29343	D	AEFDBI	0.147391	0.27106	N	0.0285848286873668	0.43158	2.614286	0.114999761498827	0.45316	2.796852	0.999994745631001	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	6.07	5.12	0.69459	0.647000	0.24500	3.217000	0.36832	0.599000	0.40250	0.430000	0.26409	0.999000	0.35428	0.587000	0.31065	0.2511:0.6214:0.1275:0.0	9.157	0.36162	864	0.32732	B30.2/SPRY 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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	815.83	35	chr9	113368345	.	C	T	815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.518;DP=245;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.224;SOR=0.504	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr9	113522987	113522987	C	T	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276261:exon8:c.C973T:p.R325C,RGS3:NM_001322214:exon8:c.C973T:p.R325C,RGS3:NM_130795:exon8:c.C973T:p.R325C,RGS3:NM_001282923:exon15:c.C1486T:p.R496C,RGS3:NM_017790:exon15:c.C1480T:p.R494C,RGS3:NM_144488:exon18:c.C1816T:p.R606C	.	432	1089	1	0	0	1	0.000458926	.	.	.	2673859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.101797132516	0.0002	.	0.0002	0	0.0008	0	0.0003	0.0002	0	0	0.0001488	23	154602	rs138006273	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0004	2.987e-05	0.0006	0	7.557e-05	0.0001	0.0009	0.0002	0.0001	4.637e-05	5.915e-05	5.91e-05	2.57e-05	9.417e-05	7.35e-05	3.078e-05	2.21e-05	2.847e-05	1.858e-05	2.414e-05	0	0	0	0	0.0003	0	7.35e-05	0	0	0.024	0.50132	D	0.026	0.57587	D	0.681	0.49677	P	0.115	0.40572	B	0.000000	0.84330	D	0.000000	0.999979	0.54805	D	2.205	0.62170	M	-0.11	0.64445	T	-2.93	0.82341	D	0.592	0.65159	-0.2125	0.77348	T	0.412	0.76034	T	10	0.26286805	0.43759	T	0.101797	0.77489	D	0.386	0.70276	.	.	0.747085183379	0.74480	0.6995176667637157	0.69892	0.386515749672	0.39939	0.735539734364	0.72316	T	0.205812	0.74580	T	-0.0101487	0.50246	T	0.109556	0.77544	D	0.43609407544136	0.30285	T	0.968903	0.89869	D	0.35277724	0.57282	0.22076213	0.46863	0.35277724	0.57282	0.22076213	0.46863	-9.153	0.72972	D	.	.	0.215	0.45433	B	.;.;.;.;.;.	.;.;.;.;.;.	5.273909	0.88551	29.6	0.99854433083484262	0.93368	0.76670	0.37621	D	AEFDGBCI	0.722792	0.67261	D	0.401433411565498	0.61503	4.352118	0.476949056256874	0.66466	4.955683	0.999999999966912	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.46	5.46	0.80021	3.265000	0.51264	7.695000	0.65987	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.452	0.83835	817	0.41665	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	919.83	34	chr9	113522987	.	C	T	919.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.781;DP=255;ExcessHet=0;FS=4.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.295;SOR=0.308	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1351	5	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N,RGS3:NM_001322215:exon2:c.C440A:p.T147N,RGS3:NM_001282922:exon3:c.C386A:p.T129N,RGS3:NM_001351526:exon4:c.C386A:p.T129N,RGS3:NM_130795:exon11:c.C1580A:p.T527N,RGS3:NM_001282923:exon18:c.C2093A:p.T698N,RGS3:NM_144488:exon21:c.C2423A:p.T808N	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1529.83	34	chr9	113583835	.	C	A	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.45;DP=283;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.322;SOR=0.761	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr9	114050117	114050117	A	G	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon14:c.A2716G:p.S906G,ZNF618:NM_001318041:exon14:c.A2719G:p.S907G,ZNF618:NM_133374:exon14:c.A2536G:p.S846G,ZNF618:NM_001318042:exon15:c.A2815G:p.S939G	.	.	.	.	.	.	.	.	.	.	.	3358222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0209570014556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197332070	4.165e-06	4.104e-06	5.503e-06	2.802e-06	2.544e-05	1.5e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	2.544e-05	0	0	3.634e-06	0	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.006	0.70582	D	0.979	0.59044	D	0.525	0.54779	P	0.000000	0.84330	D	0.042665	0.999975	0.53665	D	0.345	0.11182	N	1.99	0.21666	T	-1.05	0.29114	N	0.377	0.44857	-1.0189	0.24074	T	0.127	0.43360	T	9	0.29363197	0.46937	T	0.020957	0.43652	T	0.165	0.42395	0.491	0.57732	0.0675242888579	0.06100	0.5287370366711356	0.52797	0.828993605942	0.67545	0.636505782604	0.58068	T	0.062331	0.31888	T	-0.105572	0.35500	T	-0.389424	0.34620	T	0.674931475831407	0.39558	D	0.945605	0.79272	D	0.17806925	0.38806	0.18686683	0.41885	0.17806925	0.38806	0.18686683	0.41884	-4.664	0.33295	T	.	.	0.151	0.33389	B	.;.;.	.;.;.	4.418097	0.68405	25.2	0.99802145334172976	0.88639	0.98088	0.79496	D	AEFBI	0.786630	0.71665	D	0.595833425411522	0.72913	5.881307	0.643685640319208	0.78143	6.816989	0.999999998235961	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.692000	0.74405	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.564	0.76018	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	260.83	33	chr9	114050117	.	A	G	260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.276;DP=233;ExcessHet=0;FS=3.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=1.2;SOR=1.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	5	0	1	0
chr9	114323233	114323233	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon1:c.G100A:p.A34T	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0103	.	0.0042	0.0370	0.0027	0.0003	0	0.0004	0	0.0003	3.84e-05	1	26028	rs141253635	0.0013	0.0014	0.0014	0.0011	0.0296	0.0012	0.0012	0.0281	0.0275	0.0296	0.0014	7.756e-05	7.69e-05	5.732e-05	0.0016	0.0006	0.0021	0.0001	0.0084	0.0090	0.0085	0.0082	0.0285	0.0080	0.0078	0.0271	0.0266	0.0285	0	0.0023	0	0	9.762e-05	0	0.0006	0.0054	0	0.121	0.27783	T	0.039	0.51112	D	.	.	.	.	.	.	0.650577	0.10517	N	0.837171	0.999999	0.08975	N	.	.	.	3.04	0.08810	T	-1.79	0.42191	N	0.091	0.06990	-1.0000	0.29917	T	0.076	0.30429	T	10	0.0045843422	0.00095	T	.	.	.	0.137	0.36984	.	.	0.268660756437	0.26461	0.6255975630557077	0.62492	1.83809565209	0.92136	0.288228958845	0.08665	T	.	.	.	-0.641559	0.00082	T	-0.669957	0.07611	T	0.0265401202684484	0.01480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.	.	2.471438	0.31856	18.87	0.80802883494744471	0.13376	0.09855	0.15515	N	AEFDGBI	0.693481	0.65280	D	0.12524503097043	0.47643	2.987128	-0.0143995576309607	0.39063	2.310597	0.999999534387303	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.31	5.31	0.75063	1.331000	0.33398	2.285000	0.31922	0.675000	0.71128	0.009000	0.18154	0.050000	0.21810	0.290000	0.24260	0.0:0.0:1.0:0.0	14.845	0.69884	595	0.68488	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003513	0.006667	0.004110	0.004237	0.000000	0.000000	0.000000	0.000000	0.08333	529.83	36	chr9	114323233	.	G	A	529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.82;MQRankSum=-1.563;QD=3.6;ReadPosRankSum=0.657;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	5	0	1	0
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.08333	1009.83	35	chr9	114504573	.	T	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.072;DP=286;ExcessHet=0;FS=3.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-1.445;SOR=0.858	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1285	5	0	1	0
chr9	115078080	115078080	C	T	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon7:c.G2537A:p.R846H	Deafness, autosomal dominant 56, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	2334371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0318808107262	.	0.000399361	0.0001	0	0	0.0001	0	2.997e-05	0	0.0008	0.0001294	20	154602	rs201633665	8.961e-05	8.961e-05	5.173e-05	0.0001	0.0010	7.689e-05	7.233e-05	0.0008	0.0008	2.987e-05	0	0	0.0001	5.617e-05	0.0005	2.338e-05	0.0001	0.0010	6.569e-05	6.563e-05	6.427e-05	6.717e-05	0.0006	3.516e-05	2.615e-05	0.0002	9.003e-05	0	0	0	0	0.0004	0	0	7.352e-05	0	0.0006	0.23	0.22224	T	0.069	0.47828	T	0.9	0.54400	P	0.459	0.50218	P	0.000034	0.55875	D	0.107986	0.975046	0.39155	D	1.83	0.48079	L	0.44	0.56609	T	-3.17	0.72594	D	0.413	0.51405	-0.8618	0.51133	T	0.147	0.47273	T	10	0.084314644	0.14119	T	0.031881	0.53851	D	0.153	0.40148	.	.	0.765835553066	0.76369	0.4344904454221818	0.43366	0.570027948751	0.53169	0.373452216387	0.21325	T	0.367762	0.73278	T	-0.343191	0.05170	T	-0.326345	0.41875	T	0.320856183767319	0.25857	T	0.854814	0.69301	D	0.58672184	0.71974	0.25406516	0.51065	0.58672184	0.71975	0.25406516	0.51064	-9.004	0.67723	D	0.20942059097913696	0.28036	0.089	0.14339	B	.;.;.;.;.;.	.;.;.;.;.;.	4.322822	0.66170	24.9	0.99939222977028008	0.99734	0.79447	0.39369	D	AEFBI	0.226320	0.35029	N	0.278835802048731	0.55076	3.67207	0.30471833046166	0.55816	3.744476	0.999150543978878	0.38592	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.48	3.51	0.39297	0.804000	0.26758	3.222000	0.36859	0.599000	0.40250	0.075000	0.22209	1.000000	0.68203	0.931000	0.46843	0.1491:0.7743:0.0:0.0766	8.753	0.33790	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.015152	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	685.83	36	chr9	115078080	.	C	T	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.973;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.987;SOR=0.696	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr9	116396568	116396568	G	C	exonic	PAPPA	.	nonsynonymous SNV	PAPPA:NM_002581:exon22:c.G4836C:p.Q1612H	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00346117345202	0.0022	0.000998403	0.0011	0.0004	0.0003	0	0.0006	0.0019	0	6.06e-05	0.0013389	207	154602	rs35109458	0.0015	0.0015	0.0015	0.0015	0.0024	0.0014	0.0014	0.0022	0.0022	0.0005	0.0005	0.0010	0	0.0005	0.0002	0.0024	0.0011	0.0001	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0025	0.0024	0.0006	0	0.0004	0.0020	0	0.0004	0	0.0029	0.0014	0.0002	0.075	0.34444	T	0.123	0.35582	T	0.0	0.02946	B	0.001	0.04355	B	0.005145	0.33053	N	0.363152	0.982269	0.24977	N	0	0.06538	N	4.6	0.01868	T	-0.98	0.25986	N	0.052	0.02366	-0.9523	0.40573	T	0.007	0.02282	T	10	0.0057704747	0.00129	T	0.003461	0.07817	T	0.052	0.14661	0.104	0.01698	0.110392049598	0.10638	0.7013316011942572	0.70074	0.334741658561	0.35486	0.327382385731	0.14539	T	0.174733	0.52407	T	-0.659923	0.00063	T	-0.7225	0.04675	T	0.0124455591136777	0.00204	T	0.647735	0.25884	T	0.06452508	0.13699	0.058799036	0.10928	0.06452508	0.13699	0.058799036	0.10927	-3.744	0.19970	T	.	.	0.118	0.24157	B	.	.	2.009979	0.25536	16.80	0.9380447557866034	0.23776	0.51752	0.28969	D	AEFBCI	0.164907	0.29135	N	-0.691055692196075	0.16275	0.827756	-0.499829023852427	0.22159	1.202204	0.991035929287261	0.32351	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	1.81	0.24139	-0.081000	0.11285	1.250000	0.25164	-0.191000	0.09375	0.946000	0.32893	1.000000	0.68203	0.994000	0.71098	0.1519:0.1405:0.3236:0.384	1.716	0.02727	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	807.83	40	chr9	116396568	.	G	C	807.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.671;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1129	5	0	1	0
chr9	116863593	116863593	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.C1877T:p.S626L,ASTN2:NM_001365068:exon11:c.C2030T:p.S677L,ASTN2:NM_001365069:exon11:c.C2018T:p.S673L	.	425	1091	6	0	0	6	0.00274223	.	.	.	723289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0279527608247	0.0014	0.00299521	0.0019	0.0004	0.0007	0	0	0.0020	0.0044	0.0046	0.0018693	289	154602	rs56153291	0.0019	0.0019	0.0018	0.0021	0.0047	0.0019	0.0019	0.0043	0.0042	0.0001	0.0008	0	0	0.0003	0.0017	0.0020	0.0017	0.0047	0.0014	0.0014	0.0013	0.0016	0.0054	0.0013	0.0012	0.0038	0.0032	0.0003	0	0.0013	0	0	0.0002	0	0.0022	0.0014	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.384	0.44570	B	0.023	0.29851	B	0.000471	0.44119	D	0.155416	0.97076	0.81001	D	0.55	0.14455	N	2.69	0.14160	T	-2.2	0.49519	N	0.663	0.67218	-1.0569	0.12543	T	0.029	0.12585	T	9	0.008099645	0.00184	T	0.027953	0.50703	D	0.170	0.43303	.	.	0.043077524339	0.03247	0.6465180366261594	0.64586	0.206788434855	0.23110	0.520252048969	0.41662	T	0.040822	0.25655	T	-0.39092	0.02654	T	-0.331971	0.41249	T	0.063643542392944	0.07729	T	0.955504	0.83071	D	0.19052653	0.40642	0.25663295	0.51367	0.19052653	0.40641	0.25663295	0.51366	-7.829	0.65392	D	.	.	0.212	0.43989	B	.;.;.	.;.;.	4.993013	0.82791	27.9	0.9987140796684989	0.94902	0.98812	0.87175	D	AEFI	0.865868	0.78510	D	0.31843626131489	0.57094	3.875675	0.46635079093844	0.65774	4.866404	0.999999999999997	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.559000	0.97245	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	687.83	34	chr9	116863593	.	G	A	687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.032;SOR=0.614	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr9	120976794	120976794	G	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon29:c.C3788G:p.T1263S,C5:NM_001735:exon29:c.C3770G:p.T1257S	C5 deficiency	.	.	.	.	.	.	.	.	.	.	1156068	not_provided|C5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	0.00891766350348	0.0019	0.00199681	0.0007	0.0074	0.0003	0	0	2.997e-05	0	0	0.0006209	96	154602	rs141704823	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0002	1.799e-06	0.0004	2.319e-05	0.0019	0.0019	0.0020	0.0017	0.0066	0.0017	0.0016	0.0060	0.0057	0.0066	0	0.0004	0	0	0	0	2.94e-05	0.0009	0	0.293	0.14843	T	0.441	0.13290	T	0.051	0.22415	B	0.049	0.25116	B	0.049133	0.23188	N	0.485116	1	0.08975	N	1.215	0.30540	L	1.25	0.36512	T	-0.95	0.25332	N	0.305	0.34444	-1.0157	0.25110	T	0.035	0.14987	T	10	0.008971542	0.00203	T	0.008918	0.23511	T	0.073	0.21317	0.671	0.80903	0.556891854595	0.55349	0.32896293947467853	0.32809	0.163953475148	0.18498	0.388000965118	0.23389	T	0.056605	0.30334	T	-0.542668	0.00323	T	-0.549253	0.17397	T	0.00737774366612917	0.00085	T	0.50435	0.15896	T	0.22160736	0.44742	0.07215013	0.15532	0.22160736	0.44742	0.07215013	0.15531	-4.66	0.32917	T	.	.	0.142	0.31125	B	.	.	3.021402	0.40437	21.2	0.96928861901227226	0.31648	0.67136	0.33324	D	AEFGBI	0.434091	0.49528	N	-0.237821323293741	0.31593	1.773021	-0.0238542299289419	0.38639	2.279442	0.999686114906353	0.41756	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	4.58	0.56077	2.636000	0.46211	9.738000	0.81424	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.980000	0.58198	0.0772:0.1476:0.7752:0.0	9.111	0.35891	958	0.09170	Alpha-macroglobulin complement component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1088.83	33	chr9	120976794	.	G	C	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.671;DP=266;ExcessHet=0;FS=3.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.61;SOR=1.127	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1391	5	0	1	0
chr9	121027200	121027200	T	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon8:c.A851G:p.D284G,C5:NM_001317164:exon8:c.A833G:p.D278G,C5:NM_001735:exon8:c.A833G:p.D278G	C5 deficiency	.	.	.	.	.	.	.	.	.	.	1441825	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.00862569264018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.708	0.05563	T	0.0	0.02946	B	0.001	0.04355	B	0.061589	0.22161	N	0.420134	1	0.08975	N	0.705	0.18577	N	1.49	0.31470	T	-1.75	0.41428	N	0.182	0.19728	-0.9667	0.37874	T	0.032	0.13679	T	10	0.051216394	0.04968	T	0.008626	0.22804	T	0.169	0.43123	0.37	0.38013	0.399017061211	0.39518	0.4910320544788733	0.49024	0.201784397796	0.22587	0.297722518444	0.10063	T	0.055528	0.30031	T	-0.234555	0.16050	T	-0.574698	0.15021	T	0.0917299944668771	0.11422	T	0.606739	0.22845	T	0.35035124	0.57095	0.13662538	0.32678	0.35035124	0.57095	0.13662538	0.32677	-3.177	0.12202	T	.	.	0.073	0.04558	B	.	.	1.272134	0.16708	12.71	0.98134091352585751	0.38547	0.04373	0.09948	N	AEFDGBI	0.093467	0.18912	N	-0.662194440803249	0.17106	0.8774301	-0.490050817533751	0.22426	1.218038	0.999994438485501	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.75	4.63	0.57175	-0.087000	0.11181	-0.054000	0.12508	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.147:0.182:0.671	4.341	0.10546	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	510.83	34	chr9	121027200	.	T	C	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.073;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	5	0	1	0
chr9	121773247	121773247	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon10:c.C2347T:p.R783W,DAB2IP:NM_032552:exon12:c.C2635T:p.R879W	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0063	0.00299521	0.0049	0.0021	0.0052	0	0.0541	0.0099	0.0159	0.0012	0.0035316	546	154602	rs56200518	0.0089	0.0087	0.0091	0.0086	0.0105	0.0087	0.0087	0.0103	0.0103	0.0013	0.0019	0.0007	0	0.0108	0.0008	0.0105	0.0054	0.0015	0.0059	0.0059	0.0062	0.0057	0.0100	0.0056	0.0055	0.0094	0.0092	0.0019	0.0055	0.0014	0.0003	0.0002	0.0089	0	0.0100	0.0052	0.0012	0.004	0.65419	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.998793	0.48338	D	3.245	0.89746	M	2.57	0.13552	T	-3.82	0.71997	D	0.773	0.77039	-1.0874	0.05978	T	0.069	0.28147	T	10	0.008497626	0.00192	T	.	.	.	0.248	0.55615	.	.	0.586360121981	0.58309	0.6143580991708928	0.61367	0.676827167386	0.59798	0.919709444046	0.98301	D	0.276945	0.64954	T	-0.270245	0.11730	T	-0.149933	0.59250	T	0.0534955095472123	0.06103	T	0.984002	0.94786	D	0.2588213	0.48933	0.21386802	0.45915	0.2588213	0.48933	0.21386802	0.45914	-6.637	0.51357	T	.	.	0.723	0.73897	P	.;.;.;.;.	.;.;.;.;.	3.712730	0.53010	23.3	0.99870744953052681	0.94815	0.59337	0.30887	D	AEFBI	0.397353	0.47346	N	-0.0127095283675204	0.41281	2.466332	-0.208441860682112	0.31230	1.765591	0.999773461258034	0.42865	0.706548	0.73137	0	0.610034	0.51514	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	1.26	0.20534	1.064000	0.30189	1.515000	0.27051	0.549000	0.26987	0.827000	0.30089	0.783000	0.26796	0.933000	0.47100	0.5356:0.4644:0.0:0.0	13.064	0.58433	962	0.08456	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	TRAF1	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002070	0.000000	0.001385	0.005952	0.000000	0.000000	0.003185	0.000000	0.08333	706.83	35	chr9	121773247	.	C	T	706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=2.15;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1274	5	0	1	0
chr9	122477575	122477575	T	C	exonic	OR1J1	.	nonsynonymous SNV	OR1J1:NM_001004451:exon1:c.A352G:p.M118V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.00695975481108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.856272	0.35308	D	3.65	0.94181	H	5.46	0.00959	T	-3.77	0.71397	D	0.705	0.70878	-1.0657	0.10386	T	0.024	0.10239	T	10	0.64833033	0.69456	D	0.00696	0.18430	T	0.259	0.57090	0.183	0.09131	0.532263770911	0.52874	0.10921021106781896	0.10850	0.151158153704	0.17061	0.249292507768	0.03693	T	0.03142	0.22034	T	-0.0328345	0.47004	T	-0.284941	0.46297	T	0.990391850471497	0.80614	D	0.861714	0.55578	D	0.8169993	0.85018	0.8102234	0.88914	0.8169993	0.85020	0.8102234	0.88915	-8.552	0.64773	D	.	.	0.111	0.21428	B	.	.	4.176263	0.62829	24.5	0.99418877042680465	0.63645	0.97301	0.73892	D	AEFGBHCI	0.878329	0.80352	D	0.892949663224113	0.91409	10.86946	0.770801996877057	0.87701	9.313894	0.999999993559748	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.46	4.46	0.53567	7.922000	0.86947	1.595000	0.27551	0.604000	0.46097	1.000000	0.71638	0.981000	0.30433	0.078000	0.17132	0.0:0.0:0.0:1.0	13.203	0.59201	950	0.11238	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1320.83	33	chr9	122477575	.	T	C	1320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.489;DP=314;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.261;SOR=0.621	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	5	0	1	0
chr9	122519361	122519361	C	G	exonic	OR1J4	.	stopgain	OR1J4:NM_001004452:exon1:c.C221G:p.S74X	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.589e-05	0	0.0002	0	0	1.498e-05	0.0011	0.0002	5.17e-05	8	154602	rs769943830	7.183e-05	7.182e-05	3.403e-05	0.0001	0.0014	6.047e-05	5.595e-05	0.0007	0.0005	0	2.236e-05	0	0	0	0.0014	2.878e-05	0.0002	0.0006	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.022e-05	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.012493	0.29156	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336314	0.85590	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.553838	0.95394	35	0.99511189947466439	0.68618	0.50365	0.28646	D	AEFBI	0.070454	0.13986	N	0.764685219721609	0.83857	8.128764	0.535429621330512	0.70392	5.498263	0.998530719155841	0.37148	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.54	5.54	0.82907	0.930000	0.28458	1.933000	0.29783	0.591000	0.32079	0.000000	0.06391	0.005000	0.19230	0.174000	0.21107	0.0:1.0:0.0:0.0	18.490	0.90792	919	0.19497	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	3425.83	35	chr9	122519361	.	C	G	3425.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.419;DP=419;ExcessHet=0;FS=2.364;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=0.804;SOR=0.608	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	5	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	1959.82	287	chr9	122724732	.	T	C	1959.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=8;DP=1745;ExcessHet=1.383;FS=37.334;MLEAC=4;MLEAF=0.667;MQ=58.6;MQRankSum=-14.14;QD=2.32;ReadPosRankSum=-6.488;SOR=5.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,44:345:99:0|1:122724732_T_C:798,0,12343:122724732	0	0	3	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1323.54	264	chr9	122724738	.	T	C	1323.54	.	AC=3;AF=0.375;AN=8;BaseQRankSum=5.98;DP=1624;ExcessHet=1.383;FS=29.391;MLEAC=4;MLEAF=0.5;MQ=58.58;MQRankSum=-15.99;QD=1.63;ReadPosRankSum=-6.249;SOR=7.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,30:323:99:0|1:122724732_T_C:378,0,12208:122724732	1	0	3	2
chr9	123371518	123371518	G	T	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon8:c.G2376T:p.E792D	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	711753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0087	0.00898562	0.0024	0.0277	0.0010	0	0	1.547e-05	0.0011	6.064e-05	0.0022639	350	154602	rs75370841	0.0007	0.0007	0.0008	0.0006	0.0266	0.0007	0.0007	0.0251	0.0246	0.0266	0.0009	0	0	0	0.0003	7.194e-06	0.0012	0.0001	0.0078	0.0078	0.0085	0.0070	0.0274	0.0074	0.0072	0.0261	0.0256	0.0274	0	0.0017	0	0	0	0	7.349e-05	0.0052	0	0.416	0.09958	T	0.094	0.40267	T	0.019	0.17989	B	0.009	0.14300	B	0.876814	0.07210	N	1.077170	1	0.08975	N	2.135	0.59519	M	-2.09	0.86077	D	-1.19	0.30346	N	0.152	0.15609	-0.7747	0.56598	T	0.219	0.58163	T	10	0.0031944513	0.00054	T	.	.	.	0.103	0.29403	0.274	0.22528	0.639984247256	0.63702	0.2445636293814715	0.24370	0.352060780645	0.37045	0.23600307107	0.02442	T	0.030342	0.21531	T	-0.471786	0.00828	T	-0.429514	0.29991	T	0.00316335646721672	0.00033	T	0.556544	0.19325	T	0.06049578	0.12420	0.03941994	0.04030	0.06631601	0.14256	0.043028623	0.05262	-5.821	0.45238	T	0.3214951566224772	0.41962	0.092	0.14293	B	.;.	.;.	0.539916	0.09088	5.868	0.89592069473845981	0.18930	0.16547	0.19439	N	AEFDGBC	0.109120	0.21684	N	-1.16789947518687	0.05491	0.2504891	-1.20627491142999	0.05808	0.277808	0.999989234089861	0.51787	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.62	-0.108	0.12926	0.652000	0.24573	1.800000	0.28874	-0.110000	0.15115	0.000000	0.06391	0.079000	0.22353	0.009000	0.08673	0.4394:0.0:0.4278:0.1329	5.663	0.16957	371	0.84287	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1360.83	33	chr9	123371518	.	G	T	1360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.257;DP=286;ExcessHet=0;FS=5.627;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.23;SOR=0.315	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr9	125302647	125302647	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon3:c.G850A:p.V284M,GAPVD1:NM_001330778:exon3:c.G850A:p.V284M,GAPVD1:NM_001354294:exon3:c.G850A:p.V284M,GAPVD1:NM_001354298:exon3:c.G850A:p.V284M,GAPVD1:NM_015635:exon3:c.G850A:p.V284M,GAPVD1:NM_001330777:exon4:c.G850A:p.V284M,GAPVD1:NM_001354295:exon4:c.G850A:p.V284M,GAPVD1:NM_001354300:exon4:c.G850A:p.V284M,GAPVD1:NM_001282679:exon5:c.G850A:p.V284M,GAPVD1:NM_001282680:exon5:c.G850A:p.V284M,GAPVD1:NM_001354293:exon5:c.G850A:p.V284M,GAPVD1:NM_001354296:exon5:c.G850A:p.V284M,GAPVD1:NM_001354297:exon5:c.G850A:p.V284M,GAPVD1:NM_001354301:exon5:c.G850A:p.V284M,GAPVD1:NM_001354299:exon6:c.G850A:p.V284M	.	435	1075	12	0	0	12	0.00555042	.	.	.	700797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.356	0.0493472363448	0.0037	0.00359425	0.0040	0.0010	0.0022	0	0.0020	0.0046	0.0022	0.0079	0.0041526	642	154602	rs55779102	0.0046	0.0046	0.0045	0.0047	0.0078	0.0045	0.0044	0.0073	0.0071	0.0007	0.0028	7.653e-05	5.038e-05	0.0020	0.0043	0.0049	0.0045	0.0078	0.0031	0.0031	0.0031	0.0031	0.0075	0.0028	0.0028	0.0056	0.0049	0.0007	0	0.0035	0.0006	0.0004	0.0014	0.0034	0.0047	0.0043	0.0075	0.001	0.78490	D	0.0	0.92824	D	0.991	0.90584	D	0.883	0.83170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-1.32	0.79761	T	-2.41	0.54217	N	0.715	0.74826	0.156	0.85154	D	0.551	0.83550	D	10	0.013211578	0.00281	T	0.049347	0.63771	D	0.684	0.88443	.	.	0.876937445428	0.87573	0.6580388427450596	0.65740	0.613198805805	0.55896	0.82372969389	0.85600	D	0.39639	0.75503	T	-0.00825578	0.50510	T	0.21993	0.84170	D	0.0236995626025245	0.01108	T	0.927307	0.73215	D	0.5044271	0.67354	0.45495492	0.68310	0.5044271	0.67355	0.45495492	0.68311	-12.889	0.89389	D	.	.	0.168	0.63769	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.108793	0.85399	28.6	0.99895898233659841	0.96895	0.99304	0.94225	D	AEFBI	0.893476	0.83148	D	0.843781982928702	0.88749	9.697589	0.873656879893523	0.94320	12.66926	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.878000	0.85659	11.828000	0.97436	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.868	0.96822	814	0.42100	Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;.;Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	1598.83	36	chr9	125302647	.	G	A	1598.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.722;DP=281;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.049;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	5	0	1	0
chr9	127428915	127428915	C	T	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286696:exon2:c.C28T:p.P10S,ZNF79:NM_007135:exon2:c.C100T:p.P34S,ZNF79:NM_001286697:exon3:c.C28T:p.P10S,ZNF79:NM_001322260:exon3:c.C28T:p.P10S	.	438	1069	15	0	0	15	0.00696702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00115910851692	0.0007	0.000599042	0.0005	0.0001	0.0001	0	0	0.0007	0.0025	0.0007	0.0004916	76	154602	rs62586846	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0016	0	0.0003	0.0006	0	0	0.0030	0.0004	0.0008	0.0008	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0005	0.0003	0	0	0	0.0006	0.0014	0.0008	0.537	0.06869	T	0.653	0.07316	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.465	0.02725	N	3.3	0.06368	T	0.43	0.05810	N	0.066	0.05037	-0.9291	0.44270	T	0.006	0.01944	T	9	0.0101643205	0.00227	T	0.001159	0.01459	T	0.059	0.16972	.	.	0.17948927462	0.17512	0.05992672212225522	0.05932	0.118720311199	0.13366	0.262855321169	0.05235	T	0.031739	0.33743	T	-0.693859	0.00040	T	-0.854962	0.00899	T	0.00883740787070476	0.00109	T	0.540346	0.18307	T	0.01758923	0.00285	0.037215177	0.03327	0.01758923	0.00285	0.037215177	0.03327	-2.776	0.07964	T	.	.	0.091	0.13315	B	.;.;.	.;.;.	-0.006908	0.04236	1.043	0.83129535680914179	0.14558	0.01095	0.04025	N	AEFBI	0.017143	0.00431	N	-1.22047030877158	0.04704	0.2128583	-1.1801287928509	0.06243	0.2998613	0.99250295270663	0.32863	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.78	-1.4	0.08499	-0.700000	0.05183	-0.616000	0.08197	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.866000	0.41154	0.1786:0.3263:0.1749:0.3202	0.537	0.00597	517	0.74620	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003040	0.000000	0.001359	0.003030	0.000000	0.008621	0.006098	0.000000	0.08333	411.83	35	chr9	127428915	.	C	T	411.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.898;DP=220;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.611;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	5	0	1	0
chr9	127467789	127467789	G	A	exonic	LRSAM1	.	nonsynonymous SNV	LRSAM1:NM_001005374:exon9:c.G578A:p.C193Y,LRSAM1:NM_138361:exon9:c.G578A:p.C193Y,LRSAM1:NM_001005373:exon10:c.G578A:p.C193Y,LRSAM1:NM_001190723:exon10:c.G578A:p.C193Y,LRSAM1:NM_001384142:exon10:c.G578A:p.C193Y,LRSAM1:NM_001384143:exon10:c.G578A:p.C193Y	Charcot-Marie-Toothe disease, axonal, type 2P, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2905925	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	.	.	.	.	.	.	.	.	0.394	0.139919187679	.	.	4.782e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs755362254	1.509e-05	1.573e-05	6.824e-06	2.345e-05	0.0007	9.88e-06	8.44e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	4.981e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.991	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	1.1	0.76037	T	-4.92	0.81675	D	0.983	0.99337	0.174	0.85471	D	0.561	0.84017	D	10	0.8483082	0.84002	D	0.139919	0.82239	D	0.394	0.70924	0.502	0.59460	0.924981259947	0.92421	0.6252114783334944	0.62454	0.905084526563	0.70802	0.772437214851	0.77790	T	0.330594	0.70076	T	0.16872	0.71005	D	0.284013	0.87338	D	0.718091300473174	0.41603	D	0.812519	0.46414	T	0.69431233	0.77746	0.7641107	0.86065	0.69431233	0.77747	0.7641107	0.86066	-12.741	0.89001	D	0.8595735246969749	0.92342	0.863	0.80780	P	.;.;.;.	.;.;.;.	4.327022	0.66269	24.9	0.97928123434565739	0.36935	0.92773	0.56510	D	AEFDBI	0.593807	0.58899	D	0.606714426673848	0.73599	5.992449	0.535196802291282	0.70373	5.495862	0.999999939194206	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	5.866000	0.69342	11.829000	0.97466	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	14.809	0.69606	511	0.75131	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1160.83	33	chr9	127467789	.	G	A	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=269;ExcessHet=0;FS=1.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.825;SOR=0.89	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1171,0,1251	5	0	1	0
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	760.83	33	chr9	127709469	.	G	A	760.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.308;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.216;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1023	5	0	1	0
chr9	127712737	127712737	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon7:c.T1166C:p.V389A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00754967238248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481683864	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.987e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.398	0.15109	T	0.075	0.24198	B	0.043	0.24256	B	0.392890	0.13231	N	0.726105	1	0.08975	N	.	.	.	0.86	0.46777	T	-0.63	0.18459	N	0.053	0.02462	-1.0320	0.19809	T	0.061	0.25635	T	10	0.042764872	0.03057	T	0.00755	0.20033	T	0.029	0.06676	0.203	0.11797	0.0846915920261	0.08053	0.06642761436134914	0.06580	0.256219294154	0.28199	.	.	.	0.014782	0.12522	T	-0.276578	0.11034	T	-0.635062	0.10034	T	0.0934884885007722	0.11626	T	0.211579	0.02577	T	0.057788562	0.11543	0.0918108	0.21604	0.057788562	0.11543	0.0918108	0.21603	-2.905	0.09193	T	.	.	0.078	0.06710	B	.	.	0.188658	0.05752	2.195	0.71915589784676004	0.09792	0.04160	0.09652	N	AEFGBI	0.041397	0.06289	N	-0.956103048173258	0.09557	0.4527987	-0.937575101200426	0.11212	0.569826	0.999967049173947	0.48965	0.421363	0.06395	0	0.550933	0.16991	0	0.584781	0.30282	0	0.491896	0.07777	0	.	.	5.26	2.85	0.32333	0.160000	0.16278	-1.206000	0.06027	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1663:0.0909:0.0:0.7428	4.689	0.12153	269	0.89438	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1872.83	43	chr9	127712737	.	T	C	1872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=373;ExcessHet=0;FS=3.537;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.168;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	5	0	1	0
chr9	127826641	127826641	G	A	exonic	ENG	.	nonsynonymous SNV	ENG:NM_000118:exon4:c.C392T:p.P131L,ENG:NM_001114753:exon4:c.C392T:p.P131L	Telangiectasia, hereditary hemorrhagic, type 1, Autosomal dominant	1	1490	29	2	0	33	0.0109525	.	.	YES	171113	not_specified|Galloway-Mowat_syndrome_1|Hereditary_hemorrhagic_telangiectasia|not_provided|Cardiovascular_phenotype|Telangiectasia,_hereditary_hemorrhagic,_type_1|Haemorrhagic_telangiectasia_1	MedGen:CN169374|MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472|MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774|MedGen:CN221549	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.315	.	0.0015	0.00978435	0.0052	9.654e-05	0.0017	0.0003	0	0.0022	0.0067	0.0269	0.0045407	702	154602	rs139398993	0.0027	0.0027	0.0020	0.0035	0.0253	0.0027	0.0026	0.0244	0.0240	0.0003	0.0014	0.0129	2.519e-05	0.0003	0.0075	0.0010	0.0041	0.0253	0.0019	0.0019	0.0016	0.0023	0.0278	0.0017	0.0017	0.0240	0.0225	0.0002	0	0.0011	0.0127	0	0	0.0170	0.0011	0.0047	0.0278	0.116	0.28395	T	0.25	0.24477	T	0.066	0.23586	B	0.008	0.13708	B	0.158185	0.03017	N	1.717780	1	0.08975	N	1.43	0.35840	L	0.9	0.45248	T	-2.56	0.58085	D	0.111	0.09772	-1.0858	0.06263	T	0.055	0.23186	T	10	0.004237145	0.00085	T	.	.	.	0.315	0.63694	.	.	0.957343472108	0.95689	0.15973072449715275	0.15894	0.216395018331	0.24162	0.216936454177	0.01140	T	0.47568	0.80663	T	-0.384761	0.02906	T	-0.306535	0.44030	T	0.019841128319154	0.00686	T	0.670533	0.27914	T	0.21753049	0.44238	0.10225967	0.24504	0.14443575	0.33154	0.06372603	0.12667	-3.186	0.12926	T	0.1357352446639921	0.14780	0.073	0.04847	B	.;.	.;.	0.258399	0.06370	2.835	0.59896640418665048	0.06333	0.09144	0.14958	N	AEFDGBCI	0.254113	0.37349	N	-1.00612380666056	0.08476	0.3975567	-1.08413496547034	0.08012	0.392135	0.999998740040652	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.654045	0.52621	0	0.735409	0.98432	0	.	.	5.22	-1.86	0.07340	-0.056000	0.11744	-0.247000	0.10539	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.219:0.2375:0.3007:0.2428	0.602	0.00699	358	0.85037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009100	0.005102	0.005435	0.008772	0.050000	0.000000	0.015528	0.018939	0.08333	1005.83	33	chr9	127826641	.	G	A	1005.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.54;DP=245;ExcessHet=0;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.435;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr9	128180734	128180734	C	T	exonic	CIZ1	.	nonsynonymous SNV	CIZ1:NM_001131018:exon5:c.G597A:p.M199I,CIZ1:NM_001257976:exon5:c.G366A:p.M122I,CIZ1:NM_001131015:exon6:c.G669A:p.M223I,CIZ1:NM_001131016:exon6:c.G669A:p.M223I,CIZ1:NM_001131017:exon6:c.G654A:p.M218I,CIZ1:NM_001257975:exon6:c.G759A:p.M253I,CIZ1:NM_012127:exon6:c.G669A:p.M223I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00825417011097	.	.	1.659e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750772075	3.436e-06	4.104e-06	1.369e-06	5.521e-06	4.652e-05	1.01e-06	7.3e-07	1.586e-05	9.32e-06	0	0	0	0	0	0	0	1.664e-05	4.652e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.426	0.29153	T	0.622	0.39964	P	0.108	0.31289	B	0.478534	0.04967	N	1.358490	1	0.08975	N	0.895	0.22405	L	0.87	0.46412	T	-1.14	0.49352	N	0.15	0.17691	-1.0448	0.15884	T	0.043	0.18535	T	10	0.064921856	0.08683	T	0.008254	0.21853	T	0.040	0.10527	0.206	0.12216	0.326275561783	0.32232	0.03560397677729866	0.03507	0.30204711606	0.32536	0.265842139721	0.05607	T	0.021635	0.25645	T	-0.360155	0.04121	T	-0.572968	0.15178	T	0.322245866060257	0.25913	T	0.843416	0.55677	T	0.11349467	0.26804	0.061869204	0.12017	0.11349467	0.26804	0.061869204	0.12016	-3.606	0.18161	T	.	.	0.305	0.53394	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.769631	0.11396	8.008	0.69621170196694249	0.09031	0.03371	0.08468	N	AEFBCI	0.048678	0.08332	N	-1.5426959587266	0.01577	0.06892834	-1.68895979470788	0.01187	0.05341876	0.999999530121174	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.73	-8.47	0.00819	-1.659000	0.02077	-2.256000	0.03990	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2709:0.5191:0.1057:0.1043	2.994	0.05627	451	0.79296	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	523.83	38	chr9	128180734	.	C	T	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.175;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=1.86;SOR=0.902	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	5	0	1	0
chr9	128311584	128311584	T	C	exonic	TRUB2	.	nonsynonymous SNV	TRUB2:NM_001329861:exon5:c.A346G:p.K116E,TRUB2:NM_001329862:exon6:c.A310G:p.K104E,TRUB2:NM_015679:exon6:c.A478G:p.K160E,TRUB2:NM_001329863:exon7:c.A166G:p.K56E	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0166156503272	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002329	36	154602	rs575974527	0.0001	0.0001	5.99e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	0	1.656e-05	0.0022	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	0	0	0.0006	0.015	0.52492	D	0.025	0.56192	D	0.978	0.58756	D	0.762	0.56524	P	0.000036	0.55875	D	0.161291	0.998974	0.45795	D	2.2	0.62015	M	0.73	0.50721	T	-2.82	0.59545	D	0.65	0.66101	-0.8519	0.51837	T	0.178	0.52287	T	10	0.07613608	0.11855	T	0.016616	0.37963	T	0.230	0.53062	0.49	0.57573	0.267299060538	0.26338	0.7242953382321677	0.72373	0.825195395317	0.67364	0.600800812244	0.53018	T	0.065929	0.32814	T	-0.303109	0.08368	T	-0.214648	0.53251	T	0.213776212730444	0.21148	T	0.857914	0.54791	D	0.48039392	0.65924	0.42905128	0.66599	0.48039392	0.65925	0.42905128	0.66600	-14.336	0.94097	D	.	.	0.345	0.56265	A	.	.	3.879494	0.56379	23.7	0.99856815659502651	0.93548	0.93647	0.58792	D	AEFDGBCI	0.682679	0.64562	D	0.276120751816232	0.54942	3.658651	0.288211106330725	0.54848	3.64891	0.999999999882497	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.41	0.52588	3.838000	0.55532	3.630000	0.39313	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.1394:0.8606	12.538	0.55499	315	0.87208	Pseudouridine synthase II, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	327.83	34	chr9	128311584	.	T	C	327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.978;DP=202;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.307;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	5	0	1	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	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.08333	1661.83	40	chr9	128634837	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.814;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.859;SOR=0.695	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1672,0,1875	5	0	1	0
chr9	128656662	128656662	G	A	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon1:c.C65T:p.A22V	.	431	1074	17	0	0	17	0.00785219	.	.	YES	919188	DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|not_provided|See_cases	.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0039	0.00139776	0.0147	0	0.0172	0	0.0048	0.0333	0.0167	0.0051	0.0026455	409	154602	rs201715229	0.0032	0.0032	0.0031	0.0033	0.0137	0.0031	0.0031	0.0110	0.0100	0.0005	0.0027	0.0215	0	0.0008	0.0137	0.0030	0.0047	0.0031	0.0026	0.0026	0.0026	0.0026	0.0039	0.0024	0.0023	0.0031	0.0028	0.0005	0.0044	0.0039	0.0228	0	0.0006	0.0068	0.0031	0.0019	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.969	0.60036	D	0.304	0.50647	B	0.063802	0.21998	N	0.327042	0.949009	0.26551	N	1.04	0.26193	L	-0.99	0.75911	T	-0.85	0.24026	N	0.257	0.29081	-0.6570	0.62408	T	0.264	0.63469	T	10	0.0067727864	0.00154	T	.	.	.	0.256	0.56694	.	.	0.762820204418	0.76066	0.345762334584744	0.34490	0.50621119283	0.48837	0.814750313759	0.84221	D	0.033738	0.23038	T	-0.331137	0.06026	T	-0.247478	0.50065	T	0.0607750055070488	0.07290	T	0.578142	0.20837	T	0.175322	0.38385	0.3908777	0.63872	0.19349916	0.41062	0.39782614	0.64387	-4.447	0.30189	T	.	.	0.202	0.48561	B	.;.;.	.;.;.	3.824749	0.55248	23.6	0.99313947490755272	0.59129	0.11453	0.16644	N	ALL	0.149779	0.27394	N	0.133431610482081	0.48027	3.020442	0.0530551527143404	0.42220	2.549916	0.999999999999788	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.74	2.83	0.32150	1.687000	0.37298	8.784000	0.78249	0.640000	0.52149	0.924000	0.32081	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7737:0.2263	8.695	0.33453	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016940	0.005319	0.021978	0.008876	0.100000	0.053571	0.009554	0.003788	0.08333	749.83	41	chr9	128656662	.	G	A	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.158;DP=250;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.275;SOR=0.914	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr9	128822602	128822605	AGTA	-	exonic	ENDOG	.	frameshift deletion	ENDOG:NM_004435:exon3:c.886_889del:p.K297Efs*6	.	428	1088	6	0	0	6	0.00274977	.	.	.	215391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00419329	0.0025	0.0006	0.0109	0.0047	0	0.0040	0	0.0005	0.0001537	4	26028	rs1353989257	0.0021	0.0021	0.0022	0.0021	0.0233	0.0021	0.0021	0.0201	0.0189	0.0010	0.0071	0.0046	0.0016	0	0.0233	0.0020	0.0027	0.0007	0.0022	0.0022	0.0021	0.0024	0.0086	0.0021	0.0020	0.0074	0.0070	0.0008	0	0.0086	0.0066	0.0014	0	0.0204	0.0019	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021761	0.000000	0.016349	0.070588	0.050000	0.008772	0.009259	0.011450	0.08333	1099.79	37	chr9	128822601	.	CAGTA	C	1099.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=236;ExcessHet=0;FS=2.465;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22;ReadPosRankSum=0.088;SOR=1.143	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	5	0	1	0
chr9	128847452	128847452	G	A	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001287390:exon2:c.C77T:p.T26I,KYAT1:NM_001352994:exon2:c.C77T:p.T26I,KYAT1:NM_001352995:exon2:c.C77T:p.T26I,KYAT1:NM_001352996:exon2:c.C77T:p.T26I,KYAT1:NM_001352997:exon2:c.C77T:p.T26I,KYAT1:NM_001352998:exon2:c.C77T:p.T26I	.	411	1101	10	0	0	10	0.0045208	.	.	.	711776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.114	.	.	0.0127796	0.0069	0	0.0449	0	0.5	0.0058	0	0.0071	0.0028525	441	154602	rs138949483	0.0089	0.0085	0.0092	0.0086	0.0516	0.0088	0.0087	0.0496	0.0488	0.0014	0.0516	0.0006	0	0.0023	0.0019	0.0087	0.0083	0.0055	0.0085	0.0085	0.0082	0.0087	0.0385	0.0081	0.0079	0.0359	0.0349	0.0022	0	0.0385	0.0006	0.0006	0.0023	0.0068	0.0076	0.0166	0.0052	0.005	0.63226	D	0.007	0.69154	D	0.047	0.21998	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.32	0.12283	N	0.228	0.25622	-0.8489	0.52044	T	0.110	0.39675	T	8	0.0014366806	0.00016	T	.	.	.	0.114	0.32008	.	.	.	.	0.13175537751321723	0.13100	.	.	.	.	.	.	.	.	-0.47737	0.00766	T	-0.423448	0.30680	T	0.0067733178346428	0.00076	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37350	B	.	.	0.422890	0.07933	4.643	0.89923574061315081	0.19222	0.03686	0.08957	N	AEFDGBI	0.042374	0.06568	N	-0.890378988935331	0.11071	0.5322994	-0.968879940842846	0.10489	0.5285696	0.995416286123162	0.34113	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	0.086	0.13756	0.720000	0.25566	1.003000	0.23275	0.618000	0.50648	0.001000	0.13787	0.023000	0.20922	0.082000	0.17360	0.0961:0.3256:0.4111:0.1673	3.206	0.06268	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	371.83	36	chr9	128847452	.	G	A	371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.95;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.706;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,993	5	0	1	0
chr9	128908200	128908200	C	T	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.C1036T:p.R346C,LRRC8A:NM_001127244:exon3:c.C1036T:p.R346C,LRRC8A:NM_019594:exon3:c.C1036T:p.R346C	.	0	1520	2	0	0	2	0.000657462	.	.	.	1478122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0694811626327	7.7e-05	.	4.121e-05	9.636e-05	0.0002	0.0001	0	0	0	6.059e-05	3.23e-05	5	154602	rs369271984	6.157e-06	6.84e-06	2.723e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	4.472e-05	0	0	0	0.0002	2.698e-06	0	3.478e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-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	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.871	0.61869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	0.66	0.52416	T	-2.5	0.54382	D	0.904	0.90476	-0.7040	0.60246	T	0.214	0.57481	T	10	0.7333533	0.74450	D	0.069481	0.70741	D	0.404	0.71714	.	.	0.420780279148	0.41693	0.8817955407352295	0.88147	2.32877253769	0.96663	0.909889221191	0.97460	D	0.230636	0.59676	T	0.134422	0.67790	D	0.136839	0.79339	D	0.456321716308594	0.31030	T	0.823718	0.48487	T	0.34811455	0.56920	0.16889346	0.38884	0.34811455	0.56920	0.16889346	0.38883	-9.494	0.70821	D	.	.	0.314	0.54027	B	.;.;.	.;.;.	6.809482	0.95765	35	0.99894173817557952	0.96742	0.98624	0.84831	D	AEFDGBI	0.917241	0.88457	D	0.62612518602705	0.74831	6.200105	0.648695332793086	0.78515	6.891533	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	6.162000	0.71691	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.119	0.89495	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3196.83	109	chr9	128908200	.	C	T	3196.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=567;ExcessHet=0;FS=0.486;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.438;SOR=0.756	GT:AD:DP:GQ:PL	0/1:117,114:231:99:3207,0,2844	5	0	1	0
chr9	128946673	128946673	G	A	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.C631T:p.R211C	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	101544	not_provided|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0357950066277	0.0028	0.00139776	0.0018	0.0013	0.0017	0	0.0006	0.0024	0	0.0011	0.0019146	296	154602	rs145310298	0.0034	0.0034	0.0035	0.0033	0.0041	0.0033	0.0033	0.0040	0.0039	0.0005	0.0022	3.826e-05	0	0.0005	0.0016	0.0041	0.0036	0.0010	0.0023	0.0023	0.0027	0.0019	0.0036	0.0021	0.0020	0.0031	0.0030	0.0009	0	0.0036	0	0	0.0007	0.0068	0.0035	0.0043	0.0006	0.181	0.21884	T	0.148	0.32675	T	0.588	0.38987	P	0.103	0.30945	B	0.006107	0.32266	N	0.248173	1	0.81001	D	2.14	0.59869	M	-2.43	0.88689	D	0.49	0.02993	N	0.245	0.27673	-0.4172	0.71481	T	0.351	0.71454	T	10	0.015254825	0.00320	T	0.035795	0.56579	D	0.591	0.83691	.	.	0.853481155907	0.85206	0.6037860347003077	0.60309	0.507186606807	0.48905	0.581625282764	0.50314	T	0.173423	0.52229	T	-0.153905	0.27703	T	0.0072411	0.70805	D	0.0140418310002991	0.00272	T	0.970903	0.89563	D	0.066901065	0.14438	0.055882383	0.09886	0.066901065	0.14438	0.055882383	0.09885	-4.295	0.28107	T	.	.	0.201	0.42549	B	.	.	4.216870	0.63755	24.6	0.94934467679695023	0.25822	0.88013	0.47759	D	AEFGBCI	0.686747	0.64832	D	-0.0295646826244289	0.40520	2.407741	0.0919525540205277	0.44143	2.701793	0.99999993302508	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.26	4.36	0.51643	3.346000	0.51907	6.196000	0.54830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1654:0.0:0.8346:0.0	9.095	0.35795	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	5252.83	33	chr9	128946673	.	G	A	5252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=589;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.849;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	5	0	1	0
chr9	129100594	129100594	G	A	exonic	CRAT	.	nonsynonymous SNV	CRAT:NM_000755:exon7:c.C901T:p.R301C,CRAT:NM_001346547:exon7:c.C901T:p.R301C,CRAT:NM_001346549:exon7:c.C781T:p.R261C,CRAT:NM_001257363:exon8:c.C838T:p.R280C,CRAT:NM_001346546:exon8:c.C904T:p.R302C,CRAT:NM_001346548:exon8:c.C838T:p.R280C,CRAT:NM_004003:exon8:c.C838T:p.R280C	.	.	.	.	.	.	.	.	.	.	.	1361616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.200675671909	.	0.000199681	2.493e-05	9.679e-05	0	0.0001	0	1.517e-05	0	0	2.59e-05	4	154602	rs199817861	2.531e-05	2.531e-05	2.042e-05	3.025e-05	0.0002	1.868e-05	1.631e-05	2.116e-05	1.862e-05	5.974e-05	0	0	2.519e-05	0	0.0002	2.968e-05	0	0	3.283e-05	3.281e-05	6.423e-05	0	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	9.418e-05	0	4.41e-05	0	0	0.133	0.26409	T	0.063	0.45110	T	0.148	0.27908	B	0.018	0.18489	B	0.012757	0.29068	N	0.377447	0.999998	0.58761	D	1.92	0.51302	L	-2.52	0.89363	D	-1.57	0.37955	N	0.23	0.25867	-0.1193	0.79650	T	0.533	0.82709	D	10	0.21005136	0.37387	T	0.200676	0.86722	D	0.313	0.63482	.	.	0.951723752701	0.95121	0.5567843786232453	0.55605	0.378242501895	0.39240	0.322201728821	0.13755	T	0.453842	0.79362	T	-0.124751	0.32350	T	-0.235444	0.51242	T	0.153634756803513	0.17389	T	0.805819	0.45382	T	0.10098695	0.23850	0.046363782	0.06445	0.10098695	0.23849	0.046363782	0.06445	-5.332	0.40259	T	.	.	0.143	0.31532	B	.	.	3.632908	0.51469	23.1	0.98508702460949893	0.42313	0.91824	0.54342	D	AEFDBHCI	0.695015	0.65383	D	-0.264935119983668	0.30511	1.701993	-0.1462658929996	0.33551	1.920441	0.999999999581928	0.74766	0.77792	0.99625	0	0.588066	0.40923	0	0.854111	0.99894	0	0.645665	0.59343	0	.	.	5.52	3.53	0.39533	3.231000	0.50995	8.110000	0.76588	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0885:0.0:0.7044:0.2071	8.431	0.31920	819	0.41190	Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1312.83	38	chr9	129100594	.	G	A	1312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=303;ExcessHet=0;FS=5.947;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.649;SOR=0.342	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1323,0,1460	5	0	1	0
chr9	129803397	129803397	C	T	exonic	TOR1B	.	nonsynonymous SNV	TOR1B:NM_001317893:exon1:c.C185T:p.P62L,TOR1B:NM_001317894:exon1:c.C185T:p.P62L,TOR1B:NM_014506:exon1:c.C185T:p.P62L	.	.	.	.	.	.	.	.	.	.	.	2758211	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.677776144552	8.4e-05	.	3.033e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs149815190	3.449e-05	4.036e-05	2.289e-05	4.619e-05	0.0004	2.671e-05	2.362e-05	0.0002	0.0001	0	0	0	0	0	0.0004	2.036e-05	7.004e-05	0.0003	6.578e-06	1.314e-05	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.693	0.05863	T	0.371	0.34093	B	0.166	0.35067	B	0.173085	0.17318	N	0.579375	0.953018	0.37811	D	1.385	0.34509	L	1.02	0.40749	T	-0.69	0.19720	N	0.242	0.27316	-0.7253	0.59200	T	0.225	0.58982	T	10	0.1688731	0.31463	T	0.677776	0.97325	D	0.064	0.18567	.	.	0.082315109003	0.07666	0.7222320929937025	0.72167	0.374703731158	0.38933	0.479672014713	0.36010	T	0.061503	0.31670	T	-0.422317	0.01654	T	-0.545469	0.17763	T	0.0374529769753555	0.03235	T	0.70443	0.31478	T	0.03548813	0.04187	0.031505056	0.01749	0.03548813	0.04187	0.031505056	0.01748	-4.341	0.28748	T	.	.	0.077	0.06387	B	.	.	2.525128	0.32633	19.10	0.94671559307701192	0.25297	0.31130	0.24260	N	ALL	0.119851	0.23373	N	-0.673746203078633	0.16772	0.8574616	-0.799082412027768	0.14518	0.7589503	0.999999999995027	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	5.21	-0.527	0.11314	0.050000	0.14004	-4.034000	0.02381	0.576000	0.29215	0.422000	0.26346	0.000000	0.08366	0.897000	0.43391	0.1123:0.2674:0.6203:0.0	13.788	0.62610	383	0.83590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	688.83	37	chr9	129803397	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.459;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.41;SOR=0.655	GT:AD:DP:GQ:PL	0/1:20,26:46:99:699,0,480	5	0	1	0
chr9	130325928	130325928	A	G	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon21:c.A3151G:p.T1051A	.	877	637	8	0	0	8	0.00624025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891064588	0.0147	0.0001	0	0.0208	0.2500	0	0	.	.	0	0	0	.	0	0	0	0	0.2500	0.0012	0.0012	0.0011	0.0013	0.0120	0.0010	0.0010	0.0096	0.0087	0.0003	0	0.0009	0.0032	0	0.0002	0.0068	0.0012	0.0005	0.0120	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.009094477	0.00206	T	.	.	.	.	.	.	.	.	.	0.06579819546016917	0.06518	.	.	.	.	.	4.93E-4	0.00182	T	.	.	.	.	.	.	.	.	.	0.630137	0.24876	T	.	.	.	.	.	.	.	.	-2.494	0.05740	T	.	.	0.051	0.00543	B	.;.	.;.	-0.121758	0.03515	0.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.424000	0.07093	-0.330000	0.09897	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	.	.	.	657	0.62240	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	.	.	.	.	.	.	.	.	0.08333	1450.83	38	chr9	130325928	.	A	G	1450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=318;ExcessHet=0;FS=5.849;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.886;SOR=1.22	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	672.83	33	chr9	130354885	.	G	A	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.728;DP=219;ExcessHet=0;FS=5.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=-1.468;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1050	5	0	1	0
chr9	130681274	130681274	G	A	exonic	PRDM12	.	nonsynonymous SNV	PRDM12:NM_021619:exon5:c.G709A:p.A237T	Neuropathy, hereditary sensory and autonomic, type VIII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.294840450016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.05703	T	0.635	0.07082	T	0.009	0.15093	B	0.004	0.10090	B	0.100495	0.19884	N	0.500329	0.953557	0.26400	N	-0.69	0.01958	N	3.06	0.08634	T	-0.68	0.19509	N	0.053	0.02462	-0.9423	0.42250	T	0.011	0.03949	T	10	0.088754386	0.15311	T	0.29484	0.90687	D	0.008	0.00669	0.258	0.20002	0.290222751274	0.28632	0.10806995564322257	0.10735	0.787424342419	0.65599	0.749112725258	0.74316	T	0.009048	0.08263	T	-0.331086	0.06030	T	-0.713359	0.05124	T	0.131406083703041	0.15511	T	0.416058	0.10924	T	0.032319903	0.03236	0.04697782	0.06665	0.032319903	0.03235	0.04697782	0.06665	-5.179	0.38728	T	0.10283237215511147	0.07861	0.1	0.17146	B	.	.	2.214803	0.28262	17.74	0.97104324047158497	0.32383	0.85761	0.44930	D	ALL	0.132359	0.25163	N	-0.560630399695275	0.20151	1.060228	-0.386732668118207	0.25391	1.396103	0.999999999999809	0.74766	0.623204	0.39778	0	0.378051	0.05961	2	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.31	2.42	0.28720	1.097000	0.30600	5.293000	0.48214	0.568000	0.28809	0.984000	0.35821	1.000000	0.68203	0.898000	0.43474	0.1931:0.0:0.8069:0.0	8.658	0.33237	777	0.48198	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	645.83	29	chr9	130681274	.	G	A	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.344;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.16;SOR=0.631	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,948	5	0	1	0
chr9	130911831	130911831	G	C	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon5:c.C907G:p.R303G,FIBCD1:NM_001145106:exon6:c.C907G:p.R303G	.	414	1044	61	3	0	67	0.0310905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0039	0.00279553	0.0073	0.0002	0.0035	0	0.0029	0.0074	0.0074	0.0172	0.0046442	718	154602	rs144181457	0.0046	0.0046	0.0042	0.0050	0.0237	0.0045	0.0045	0.0204	0.0192	0.0006	0.0020	0.0127	5.136e-05	0.0020	0.0237	0.0040	0.0048	0.0155	0.0037	0.0037	0.0037	0.0038	0.0138	0.0035	0.0034	0.0111	0.0101	0.0005	0.0186	0.0029	0.0136	0	0.0016	0.0136	0.0049	0.0081	0.0138	0.003	0.68238	D	0.002	0.79402	D	0.977	0.58535	D	0.9	0.63913	P	0.000014	0.62929	D	0.112664	0.999867	0.50061	D	2.85	0.82803	M	-1.64	0.82533	D	-4.28	0.77881	D	0.742	0.77601	0.399	0.89075	D	0.609	0.86161	D	10	0.02502969	0.00710	T	.	.	.	0.621	0.85301	.	.	0.843453965544	0.84196	0.5856316524252596	0.58492	0.535445488609	0.50911	0.552755832672	0.46246	T	0.155961	0.49792	T	-0.170944	0.25092	T	-0.00664874	0.69902	D	0.0313949127240149	0.02208	T	0.953105	0.82105	D	0.6424315	0.74961	0.4553206	0.68334	0.6424315	0.74962	0.4553206	0.68334	-8.692	0.65693	D	.	.	0.318	0.58826	B	.;.;.	.;.;.	4.207188	0.63535	24.6	0.99806678207815691	0.89085	0.86228	0.45468	D	AEFDBCI	0.590179	0.58677	D	0.486586880830058	0.66304	4.933122	0.396929585345939	0.61376	4.336751	0.999996956823631	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.17	4.18	0.48473	2.754000	0.47211	6.937000	0.56979	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.8492:0.1508	15.166	0.72515	649	0.63102	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	.	.	.	.	.	.	.	.	0.08333	555.83	34	chr9	130911831	.	G	C	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.483;DP=282;ExcessHet=0;FS=5.291;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.923;SOR=1.033	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	5	0	1	0
chr9	130924266	130924266	C	G	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon3:c.G683C:p.R228P,FIBCD1:NM_001145106:exon4:c.G683C:p.R228P	.	.	.	.	.	.	.	.	.	.	.	3955763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.026475827874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.037	0.61642	D	0.999	0.77913	D	0.922	0.65739	D	0.283247	0.14905	U	0.494585	0.999649	0.48019	D	2.48	0.72069	M	0.53	0.55090	T	-1.89	0.52289	N	0.656	0.68342	-0.8483	0.52086	T	0.223	0.58652	T	10	0.35588616	0.52340	T	0.026476	0.49383	D	0.238	0.54217	0.324	0.30549	0.670683552153	0.66790	0.5279782251301384	0.52721	0.175173179804	0.19720	0.509348809719	0.40131	T	0.026697	0.19702	T	0.127366	0.67103	D	-0.0548241	0.66692	D	0.830098211765289	0.48538	D	0.832317	0.50011	T	0.41921788	0.62040	0.51757854	0.72127	0.41921788	0.62040	0.51757854	0.72127	-2.156	0.03832	T	.	.	0.115	0.29228	B	.;.;.;.	.;.;.;.	3.919874	0.57225	23.8	0.99692515333631837	0.80044	0.92809	0.56598	D	AEFDBI	0.758008	0.69678	D	0.152923705582399	0.48950	3.101058	0.0979685614948341	0.44448	2.726264	0.999999999740154	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.43	4.53	0.55009	2.409000	0.44236	3.164000	0.36582	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9231:0.0:0.0769	13.184	0.59094	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	637.83	33	chr9	130924266	.	C	G	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=212;ExcessHet=0;FS=4.255;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.153;SOR=1.402	GT:AD:DP:GQ:PL	0/1:20,29:49:99:648,0,387	5	0	1	0
chr9	131071515	131071515	C	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon18:c.C3101A:p.T1034K	Cortical malformations, occipital, Autosomal recessive	0	1518	1	0	3	4	0.000329272	.	.	.	3987556	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0130854553877	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs149131135	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.018	0.59732	D	0.009	0.15093	B	0.007	0.12992	B	0.000271	0.46590	D	0.213426	0.992067	0.23941	N	0	0.06538	N	1.69	0.27032	T	-0.75	0.21003	N	0.327	0.36779	-1.0375	0.18078	T	0.031	0.13242	T	10	0.13143846	0.25016	T	0.013085	0.32199	T	0.063	0.18251	0.485	0.56780	0.42573502686	0.42190	0.744631176305514	0.74409	0.177814948833	0.20007	0.48523658514	0.36779	T	0.088497	0.38172	T	-0.172362	0.24878	T	-0.485362	0.23878	T	0.553429543972015	0.34606	D	0.462454	0.13421	T	0.11606121	0.27379	0.1341657	0.32155	0.11606121	0.27378	0.1341657	0.32154	-8.067	0.61526	D	.	.	0.176	0.38534	B	.	.	2.873663	0.38005	20.6	0.9632050356288967	0.29413	0.73524	0.35964	D	AEFDBI	0.622621	0.60687	D	-0.493349347134059	0.22298	1.189662	-0.28378092075406	0.28633	1.59793	0.999997542192619	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	4.2	0.48814	1.814000	0.38610	5.016000	0.46707	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0911:0.0:0.9089	8.261	0.30949	385	0.83500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	594.83	57	chr9	131071515	.	C	A	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=270;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.369;SOR=0.779	GT:AD:DP:GQ:PL	0/1:38,24:62:99:605,0,978	5	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.08333	1346.83	34	chr9	131151751	.	A	G	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=285;ExcessHet=0;FS=1.547;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.943;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	5	0	1	0
chr9	131626264	131626264	G	A	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377936:exon9:c.C1213T:p.H405Y,RAPGEF1:NM_001377937:exon9:c.C1246T:p.H416Y,RAPGEF1:NM_001377938:exon9:c.C1246T:p.H416Y,RAPGEF1:NM_001304275:exon10:c.C1360T:p.H454Y,RAPGEF1:NM_001377935:exon10:c.C1360T:p.H454Y,RAPGEF1:NM_005312:exon10:c.C1309T:p.H437Y,RAPGEF1:NM_198679:exon10:c.C1363T:p.H455Y	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00932023708639	0.0015	0.000599042	0.0013	0.0002	0.0028	0	0.0005	0.0015	0.0045	0.0014	0.0013325	206	154602	rs113690899	0.0020	0.0020	0.0019	0.0020	0.0022	0.0019	0.0019	0.0021	0.0021	0.0001	0.0017	0.0027	5.038e-05	0.0006	0.0012	0.0022	0.0019	0.0013	0.0012	0.0012	0.0013	0.0011	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0008	0.0012	0.0002	0.0008	0	0.0020	0.0005	0.0015	0.057	0.41096	T	1.0	0.01155	T	0.01	0.17573	B	0.034	0.28220	B	0.906730	0.08581	N	0.963617	0.999832	0.20991	N	0.55	0.14455	N	1.83	0.24841	T	0.11	0.05706	N	0.21	0.28264	-0.9982	0.30423	T	0.040	0.17149	T	10	0.009190947	0.00208	T	0.00932	0.24459	T	0.094	0.27141	.	.	0.196089822672	0.19227	0.10695214700480138	0.10625	0.295307434607	0.31932	0.454106152058	0.32505	T	0.197233	0.55384	T	-0.59736	0.00151	T	-0.63577	0.09981	T	0.0253384779696571	0.01318	T	0.884911	0.60954	D	0.01952026	0.00484	0.050451882	0.07922	0.01952026	0.00484	0.050451882	0.07921	-3.379	0.14788	T	.	.	0.058	0.03162	B	.;.;.	.;.;.	1.343651	0.17504	13.20	0.97612226262115043	0.34915	0.42147	0.26814	N	AEFDGBHCI	0.026329	0.01958	N	-0.566613955815205	0.19965	1.049056	-0.430355145586459	0.24111	1.318535	0.999999989671413	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	4.8	3.67	0.41236	3.403000	0.52364	6.517000	0.55822	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.7471:0.0:0.0898:0.1631	4.858	0.12933	453	0.79178	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1139.83	66	chr9	131626264	.	G	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=238;ExcessHet=0;FS=3.419;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-0.457;SOR=1.052	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	115	1368	29	5	5	44	0.0140541	.	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015977	0.000000	0.013812	0.034091	0.000000	0.000000	0.012346	0.024590	0.08333	384.85	26	chr9	133071303	.	G	C	384.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.813;DP=102;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.59;MQRankSum=1.88;QD=24.05;ReadPosRankSum=-1.337;SOR=2.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:45:.:.:0,45,675:.	5	0	1	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	500.79	21	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	500.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.198;DP=193;ExcessHet=0;FS=1.456;MLEAC=1;MLEAF=0.083;MQ=59.62;MQRankSum=-1.31;QD=12.52;ReadPosRankSum=0.372;SOR=1.105	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,1155	5	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.3333	302.19	21	chr9	133208141	.	T	A	302.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.974;DP=78;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.5;MQ=54.88;MQRankSum=-2.722;QD=9.44;ReadPosRankSum=-0.036;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:22,0:22:0:.:.:0,0,349:.	1	0	2	3
chr9	133336041	133336041	C	G	exonic	SURF6	.	nonsynonymous SNV	SURF6:NM_001278942:exon1:c.G92C:p.R31P,SURF6:NM_006753:exon1:c.G92C:p.R31P	.	431	1089	2	0	0	2	0.000917431	0.0003	0.04	.	2360945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0269648490655	7.7e-05	.	0.0001	0	8.696e-05	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs376694534	8.569e-05	8.619e-05	6.413e-05	0.0001	0.0007	7.328e-05	6.83e-05	0.0005	0.0005	0	2.237e-05	0	0	0	0.0002	5.127e-05	0.0001	0.0007	5.907e-05	5.905e-05	2.569e-05	9.394e-05	0.0002	3.074e-05	2.208e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.199	0.20456	T	0.119	0.36101	T	0.494	0.37037	P	0.105	0.31087	B	0.559293	0.11353	N	0.812784	0.999921	0.19486	N	1.355	0.33814	L	2.48	0.14657	T	-0.09	0.08340	N	0.078	0.05287	-0.9956	0.31136	T	0.017	0.06950	T	10	0.040412307	0.02607	T	0.026965	0.49829	D	0.014	0.01968	.	.	0.265929055128	0.26215	0.09557347173259692	0.09489	0.797162294829	0.66084	0.239780694246	0.02771	T	0.008998	0.08221	T	-0.513761	0.00478	T	-0.633027	0.10187	T	0.14006247906551	0.16280	T	0.444256	0.12390	T	0.1428249	0.32851	0.12365405	0.29814	0.1428249	0.32850	0.12365405	0.29813	-1.977	0.03095	T	.	.	0.097	0.15743	B	.	.	1.984834	0.25217	16.68	0.86278701801214985	0.16430	0.00569	0.02581	N	AEFGBHCIJ	0.235994	0.35851	N	-0.733790988952806	0.15077	0.7566664	-0.802282683916515	0.14441	0.754518	0.99999999866975	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.79	1.73	0.23565	1.163000	0.31408	4.157000	0.42186	0.549000	0.26987	0.202000	0.24332	0.898000	0.27928	0.020000	0.11549	0.2902:0.3768:0.2027:0.1303	1.260	0.01879	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	630.83	35	chr9	133336041	.	C	G	630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=204;ExcessHet=0;FS=4.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.611;SOR=1.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,952	5	0	1	0
chr9	133354660	133354660	C	T	exonic	SURF1	.	nonsynonymous SNV	SURF1:NM_003172:exon4:c.G322A:p.D108N	Charcot-Marie-Tooth disease, type 4K, Autosomal recessive;Leigh syndrome, due to COX IV deficiency, Autosomal recessive, Mitochondrial	1	1520	1	0	0	1	0.000328839	0.7381	0.614	YES	211367	Inborn_genetic_diseases|Mitochondrial_complex_IV_deficiency,_nuclear_type_1|Charcot-Marie-Tooth_disease_type_4K|not_provided|Leigh_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110|MONDO:MONDO:0014733,MedGen:C4225246,OMIM:616684,Orphanet:391351|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.485	0.280796602461	.	.	3.305e-05	9.669e-05	0	0	0	1.504e-05	0	0.0001	3.84e-05	1	26028	rs863224226	8.833e-05	8.824e-05	9.947e-05	7.708e-05	0.0001	7.562e-05	7.108e-05	8.036e-05	7.491e-05	0.0001	0	0	2.519e-05	0	0	9.532e-05	0.0001	0.0001	7.229e-05	7.224e-05	5.139e-05	9.417e-05	0.0002	3.972e-05	3.128e-05	6.284e-05	4.301e-05	0.0001	0	6.547e-05	0	0	0	0	4.41e-05	0	0.0002	0.198	0.20532	T	0.284	0.21411	T	0.209	0.29944	B	0.03	0.21741	B	0.000003	0.62929	D	0.100816	1	0.81001	D	1.29	0.32370	L	-3.18	0.93111	D	-2.61	0.56144	D	0.587	0.60749	0.349	0.88327	D	0.711	0.90065	D	10	0.6787111	0.71149	D	0.280797	0.90223	D	0.485	0.77399	0.471	0.54537	0.969060000304	0.96872	0.562552114758547	0.56182	0.0368355658946	0.03901	0.545452475548	0.45216	T	0.836369	0.96142	D	-0.160673	0.26657	T	-0.231904	0.51587	T	0.24430713057518	0.22616	T	.	.	.	0.27051464	0.50123	0.2888304	0.54901	0.27051464	0.50123	0.2888304	0.54900	-5.89	0.45350	T	.	.	0.110	0.21353	B	.	.	4.110721	0.61369	24.3	0.99338035560059446	0.60051	0.98169	0.80199	D	AEFDBCI	0.895167	0.83490	D	0.0492559906345633	0.44107	2.690931	0.148416899308458	0.47058	2.94184	1.0	0.98316	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	7.231000	0.77575	5.836000	0.50206	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:1.0:0.0:0.0	17.328	0.87142	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1028.83	34	chr9	133354660	.	C	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=246;ExcessHet=0;FS=2.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.12;SOR=1.158	GT:AD:DP:GQ:PL	0/1:37,35:72:99:1039,0,1033	5	0	1	0
chr9	133433657	133433657	C	T	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon11:c.C1261T:p.R421C,ADAMTS13:NM_139026:exon11:c.C1168T:p.R390C,ADAMTS13:NM_139027:exon11:c.C1261T:p.R421C	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	444392	Upshaw-Schulman_syndrome|not_specified|not_provided|See_cases	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.156	0.161417377144	0.0006	.	0.0007	9.649e-05	0.0010	0	0.0002	0.0008	0	0.0015	0.0006145	95	154602	rs145825553	0.0006	0.0006	0.0005	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	5.974e-05	0.0010	0.0001	2.519e-05	7.506e-05	0.0035	0.0005	0.0007	0.0017	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	7.248e-05	0	0.0010	0	0	0.0002	0	0.0005	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.93	0.66466	D	.	.	.	.	0.999996	0.19781	N	2.605	0.76211	M	0.61	0.53516	T	-5.3	0.84387	D	0.497	0.53006	-0.6004	0.64801	T	0.338	0.70412	T	9	0.15165132	0.28660	T	0.161417	0.84121	D	0.156	0.40720	.	.	0.875601714417	0.87439	0.7225934449380197	0.72203	1.20868943995	0.80773	0.342240482569	0.16773	T	0.291881	0.66462	T	-0.371473	0.03520	T	-0.319602	0.42618	T	0.0816198752228164	0.10193	T	0.965803	0.87368	D	0.3054312	0.53387	0.28948033	0.54967	0.3054312	0.53387	0.28948033	0.54967	-11.204	0.80764	D	.	.	0.242	0.57616	B	.;.;.;.	.;.;.;.	5.305534	0.89070	29.8	0.99915009724311221	0.98309	0.61498	0.31502	D	AEFDGBHCI	0.411289	0.48182	N	0.505556900288663	0.67418	5.07897	0.386940753935282	0.60758	4.267194	0.999984610956705	0.51787	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.567892	0.33627	0	.	.	4.88	4.88	0.63131	2.205000	0.42407	7.441000	0.58873	0.599000	0.40250	0.959000	0.33545	0.928000	0.28476	0.977000	0.56843	0.1513:0.8487:0.0:0.0	14.022	0.64078	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1583.83	40	chr9	133433657	.	C	T	1583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.43;DP=334;ExcessHet=0;FS=2.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.462;SOR=0.875	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr9	133539849	133539849	C	T	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon5:c.C388T:p.H130Y,ADAMTSL2:NM_014694:exon5:c.C388T:p.H130Y	Geleophysic dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3947880	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.076	0.0104817292266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341624877	2.717e-05	2.599e-05	2.398e-05	3.044e-05	3.337e-05	2.02e-05	1.768e-05	2.442e-05	2.167e-05	0	0	0	2.798e-05	0	0	3.337e-05	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010773	0.29791	N	0.275476	0.958973	0.26204	N	.	.	.	0.6	0.53731	T	2.52	0.00300	N	0.269	0.30800	-0.9755	0.36015	T	0.040	0.17149	T	10	0.043015927	0.03107	T	0.010482	0.27066	T	0.076	0.22200	0.443	0.49975	0.215869574891	0.21205	0.7726570629859298	0.77215	0.494445016744	0.48007	0.392561912537	0.24030	T	0.010119	0.09163	T	-0.358403	0.04220	T	-0.548997	0.17422	T	0.0295857776468458	0.01926	T	0.734227	0.35027	T	0.029445525	0.02440	0.08165964	0.18576	0.029445525	0.02440	0.08165964	0.18576	-2.938	0.09528	T	.	.	0.046	0.00057	B	.;.;.	.;.;.	1.751346	0.22283	15.56	0.95310802100338221	0.26643	0.36203	0.25479	N	AEFDGBI	0.120325	0.23445	N	-1.13544280845486	0.06023	0.276175	-0.907630990425497	0.11913	0.6098513	0.999994163012238	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.535252	0.11790	0	0.63947	0.58350	0	.	.	5.46	0.618	0.16800	3.648000	0.54150	2.740000	0.34455	-0.780000	0.03343	1.000000	0.71638	0.998000	0.33993	0.914000	0.44937	0.0:0.1245:0.0:0.8755	10.859	0.46022	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	520.83	63	chr9	133539849	.	C	T	520.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.907;DP=234;ExcessHet=0;FS=2.123;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.531;SOR=0.988	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	5	0	1	0
chr9	133694305	133694305	C	A	exonic	SARDH	.	nonsynonymous SNV	SARDH:NM_001134707:exon15:c.G1874T:p.R625L,SARDH:NM_007101:exon15:c.G1874T:p.R625L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.523590250337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762509323	7.652e-05	7.593e-05	8.044e-05	7.25e-05	9.825e-05	6.462e-05	6.002e-05	8.283e-05	7.721e-05	0	0	0	0	0	0	9.825e-05	1.725e-05	0	1.973e-05	1.97e-05	3.856e-05	0	4.411e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.753	0.10278	T	0.222	0.34124	T	0.058	0.26866	B	0.071	0.35348	B	0.215962	0.16252	N	0.619696	0.999999	0.58761	D	2.745	0.80253	M	-1.21	0.78645	T	-1.35	0.43906	N	0.627	0.64563	-0.1651	0.78547	T	0.448	0.78336	T	10	0.86818635	0.86072	D	0.52359	0.95483	D	0.614	0.84932	.	.	0.870132832338	0.86887	0.840655373996095	0.84025	0.28758288876	0.31159	0.441653013229	0.30804	T	0.719024	0.96950	D	0.0563168	0.59150	T	-0.0515956	0.66914	D	0.867118656635284	0.51714	D	0.935306	0.80271	D	0.11691184	0.27569	0.08833644	0.20592	0.11691184	0.27569	0.08833644	0.20591	-11.668	0.83197	D	.	.	0.142	0.42448	B	.;.;.;.	.;.;.;.	2.479170	0.31965	18.90	0.99466611509872671	0.66102	0.97232	0.73472	D	AEFGBI	0.712065	0.66531	D	0.0553981528789633	0.44390	2.71405	0.148792304888316	0.47078	2.943502	0.999999999161287	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.55	4.55	0.55429	3.131000	0.50210	3.754000	0.39694	-0.306000	0.06133	1.000000	0.71638	0.999000	0.35428	0.340000	0.25432	0.0:1.0:0.0:0.0	14.012	0.64021	853	0.34956	Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1571.83	99	chr9	133694305	.	C	A	1571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.057;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	5	0	1	0
chr9	135485382	135485382	A	G	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.A872G:p.K291R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00730095657525	.	.	4.212e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs774881863	2.465e-05	2.463e-05	2.452e-05	2.477e-05	0.0002	1.804e-05	1.601e-05	0.0001	0.0001	0	0	0	0	0	0	1.259e-05	8.28e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.503	0.11078	T	0.015	0.17086	B	0.011	0.15521	B	0.355583	0.13748	N	0.707775	1	0.08975	N	1.655	0.42436	L	2.82	0.10871	T	-1.66	0.39692	N	0.063	0.04426	-0.9609	0.39012	T	0.027	0.11529	T	10	0.0426808	0.03041	T	0.007301	0.19361	T	0.039	0.10176	0.251	0.18912	0.082315109003	0.07666	0.06465228014040837	0.06404	0.127066571743	0.14318	0.321806967258	0.13695	T	0.003638	0.03050	T	-0.525935	0.00406	T	-0.733567	0.04168	T	0.0232565139872016	0.01053	T	0.557944	0.19432	T	0.048647568	0.08512	0.05111106	0.08161	0.048647568	0.08512	0.05111106	0.08160	-4.601	0.32184	T	.	.	0.100	0.17317	B	.;.;.;.;.	.;.;.;.;.	1.532334	0.19659	14.37	0.92194115524981279	0.21562	0.40027	0.26345	N	AEFGBI	0.075570	0.15179	N	-0.869957670721503	0.11561	0.5586308	-0.868289064986755	0.12849	0.6633223	0.999956072833018	0.48110	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.61	2.06	0.25932	1.892000	0.39382	3.381000	0.38003	-0.613000	0.04580	0.041000	0.21027	0.999000	0.35428	0.013000	0.09966	0.7795:0.0:0.2205:0.0	8.608	0.32944	515	0.74782	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1690.83	106	chr9	135485382	.	A	G	1690.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=460;ExcessHet=0;FS=0.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.209;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	5	0	1	0
chr9	135546230	135546230	C	T	exonic	OBP2A	.	nonsynonymous SNV	OBP2A:NM_001293189:exon1:c.C50T:p.S17F,OBP2A:NM_001293193:exon1:c.C50T:p.S17F,OBP2A:NM_014582:exon1:c.C50T:p.S17F	.	449	1044	25	4	0	33	0.0155587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0004	0.00678914	0.0100	0.0005	0.0016	0.0008	0.0031	0.0029	0.0048	0.0297	0.0002587	40	154602	rs146174738	0.0016	0.0016	0.0010	0.0021	0.0176	0.0015	0.0015	0.0168	0.0165	0.0001	0.0006	0	0	0.0003	0.0048	0.0005	0.0017	0.0176	0.0012	0.0012	0.0009	0.0014	0.0187	0.0010	0.0010	0.0155	0.0143	7.419e-05	0	0.0011	0	0.0002	0.0002	0.0068	0.0010	0	0.0187	0.01	0.91255	D	0.003	0.76473	D	0.99	0.63424	D	0.962	0.70672	D	0.111432	0.02643	N	2.009180	1	0.08975	N	1.1	0.28011	L	1.79	0.25509	T	-2.6	0.55983	D	0.111	0.18920	-1.0301	0.20422	T	0.099	0.36957	T	10	0.004365295	0.00089	T	.	.	.	0.038	0.09825	.	.	0.306695030598	0.30287	0.40449597559420153	0.40365	0.299712334591	0.32340	0.604844748974	0.53589	T	0.009529	0.08670	T	-0.57064	0.00219	T	-0.578181	0.14708	T	0.0303588336819061	0.02046	T	0.590441	0.21717	T	0.1545744	0.34980	0.054699108	0.09458	0.1545744	0.34979	0.054699108	0.09457	-7.445	0.57222	T	.	.	0.203	0.48188	B	.;.;.;.;.	.;.;.;.;.	0.978863	0.13562	10.09	0.99489188982084586	0.67347	0.01105	0.04049	N	AEFGBI	0.029942	0.02919	N	-0.678745835377235	0.16629	0.8488801	-0.872682251635143	0.12743	0.6572797	4.90916395702772E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.02	-0.0525	0.13152	0.093000	0.14925	-1.327000	0.05707	-0.926000	0.02173	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6617:0.0:0.3383	4.742	0.12396	548	0.72362	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005718	0.000000	0.004348	0.004545	0.000000	0.000000	0.008696	0.013158	0.08333	996.83	50	chr9	135546230	.	C	T	996.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.724;DP=183;ExcessHet=0;FS=3.197;MLEAC=1;MLEAF=0.083;MQ=37.77;MQRankSum=2.35;QD=19.94;ReadPosRankSum=1.67;SOR=0.306	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	5	0	1	0
chr9	135562292	135562292	A	G	splicing	PAEP	NM_001018049:exon2:c.97-2A>G;NM_002571:exon2:c.97-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468120421	6.844e-07	1.368e-06	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.780217	0.29341	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2238	0.17477	T	-0.55925	0.16447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.727936	0.76118	26.5	0.89133411473613999	0.18539	0.42555	0.26903	N	AEFDBCI	.	.	.	0.448409466569445	0.64112	4.658697	0.10185772480376	0.44643	2.742119	0.959148095899434	0.28407	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.135754	0.26321	1.32	1.32	0.20897	1.719000	0.37633	2.255000	0.31717	0.686000	0.82685	0.973000	0.34540	0.959000	0.29258	0.405000	0.26894	1.0:0.0:0.0:0.0	4.770	0.12523	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1300.83	33	chr9	135562292	.	A	G	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.515;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.076;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1353	5	0	1	0
chr9	135946332	135946332	C	T	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon5:c.G481A:p.E161K	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0213328604284	0.0016	0.000998403	0.0017	0.0006	0.0003	0	0.0026	0.0022	0.0011	0.0018	0.0017141	265	154602	rs149136617	0.0021	0.0021	0.0020	0.0021	0.0022	0.0020	0.0020	0.0021	0.0021	0.0003	0.0005	0.0044	2.519e-05	0.0042	0.0007	0.0022	0.0013	0.0019	0.0018	0.0018	0.0017	0.0018	0.0024	0.0016	0.0015	0.0021	0.0020	0.0006	0	0.0003	0.0052	0	0.0043	0	0.0024	0.0009	0.0017	0.253	0.16958	T	0.018	0.59732	D	0.993	0.65571	D	0.631	0.51788	P	0.000001	0.62929	N	0.095800	1	0.81001	D	2.5	0.72771	M	1.8	0.25344	T	-1.73	0.41046	N	0.39	0.43126	-1.0724	0.08894	T	0.092	0.35038	T	10	0.0114097595	0.00249	T	0.021333	0.44082	T	0.118	0.32913	.	.	0.102598925029	0.09809	0.60073382262186	0.60004	0.283620578612	0.30797	0.757285177708	0.75525	T	0.019119	0.15291	T	-0.503381	0.00547	T	-0.493514	0.23024	T	0.0329544500219423	0.02463	T	0.886711	0.61387	D	0.07204436	0.15996	0.12689148	0.30554	0.07204436	0.15996	0.12689148	0.30553	-11.009	0.79707	D	.	.	0.329	0.55152	B	.	.	3.679426	0.52360	23.2	0.99893115862319015	0.96666	0.96090	0.67487	D	AEFDGBCIJ	0.431706	0.49388	N	0.0966408026077019	0.46304	2.872978	0.0302086204382537	0.41125	2.465512	0.999999987941307	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.11	0.34883	4.410000	0.59530	3.864000	0.40152	-0.313000	0.06017	1.000000	0.71638	0.999000	0.35428	0.869000	0.41347	0.0:0.7644:0.1479:0.0877	8.776	0.33919	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1843.83	41	chr9	135946332	.	C	T	1843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.277;DP=358;ExcessHet=0;FS=1.384;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.633;SOR=0.722	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	5	0	1	0
chr9	136049893	136049893	G	A	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.C629T:p.A210V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.145654537314	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192955264	4.353e-05	6.52e-05	4.887e-05	3.882e-05	0.0002	2.782e-05	2.314e-05	8.478e-05	6.223e-05	0	0.0001	0	0.0001	0	0	1.934e-05	4.028e-05	0.0002	1.976e-05	1.97e-05	1.287e-05	2.697e-05	6.563e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.563e-05	0	0	0	0	2.946e-05	0	0	0.112	0.28900	T	0.327	0.18732	T	0.001	0.07471	B	0.0	0.01387	B	0.092878	0.20252	N	0.486257	1	0.08975	N	1.245	0.31408	L	-0.09	0.64086	T	-1.03	0.27052	N	0.057	0.02861	-1.0386	0.17740	T	0.116	0.41120	T	10	0.118282616	0.22359	T	0.145655	0.82783	D	0.049	0.13647	0.361	0.36548	0.226586394389	0.22295	0.41644530876353103	0.41560	0.673653863298	0.59600	0.773065686226	0.77883	T	0.194953	0.55088	T	-0.216408	0.18486	T	-0.548632	0.17457	T	0.0710176154971123	0.08793	T	0.516748	0.16663	T	0.028565481	0.02214	0.04267276	0.05138	0.028565481	0.02214	0.04267276	0.05137	-4.31	0.28316	T	.	.	0.081	0.09045	B	.;.	.;.	1.329065	0.17341	13.11	0.97969415399232562	0.37239	0.08916	0.14771	N	AEFI	0.050280	0.08772	N	-1.09045364456543	0.06817	0.3149528	-1.08328390458016	0.08029	0.3930341	0.176936816087325	0.17817	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.06	2.14	0.26518	0.704000	0.25336	2.580000	0.33410	-0.154000	0.11915	0.012000	0.18695	0.985000	0.30750	0.041000	0.14368	0.2369:0.0:0.7631:0.0	6.998	0.23970	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	926.83	77	chr9	136049893	.	G	A	926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.096;DP=174;ExcessHet=0;FS=1.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.448;SOR=0.77	GT:AD:DP:GQ:PL	0/0:17,0:17:39:0,39,585	5	0	1	0
chr9	136363665	136363665	T	-	exonic	DNLZ	.	frameshift deletion	DNLZ:NM_001080849:exon1:c.50delA:p.Q17Rfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	158.81	11	chr9	136363664	.	CT	C	158.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=79;ExcessHet=0;FS=6.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.437;SOR=0.636	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	5	0	1	0
chr9	136407264	136407264	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon3:c.G481C:p.D161H,ENTR1:NM_006643:exon4:c.G631C:p.D211H,ENTR1:NM_001039707:exon5:c.G700C:p.D234H	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.012446890627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs932579216	2.054e-06	2.052e-06	1.362e-06	2.752e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.046	0.50226	D	0.987	0.61912	D	0.853	0.60815	P	0.105540	0.19654	N	0.547984	0.998612	0.22036	N	.	.	.	2.14	0.39990	T	-3.26	0.78891	D	0.384	0.46086	-0.9752	0.36082	T	0.154	0.48378	T	10	0.15341121	0.28958	T	0.012447	0.31033	T	0.056	0.15993	0.326	0.30873	0.548611889291	0.54518	0.23439374797238732	0.23354	0.109377941776	0.12337	0.574790835381	0.49354	T	0.091235	0.45556	T	-0.164267	0.26105	T	-0.473735	0.25114	T	0.877457618713379	0.52736	D	0.852015	0.53695	D	0.10433186	0.24663	0.15849507	0.37010	0.10433186	0.24663	0.15849507	0.37009	-4.045	0.24624	T	.	.	0.173	0.48303	B	.;.;.;.	.;.;.;.	3.636138	0.51531	23.1	0.99369988421502775	0.61411	0.08263	0.14215	N	AEFGBI	0.087834	0.17809	N	0.0441985649452429	0.43876	2.672078	-0.0664186382870818	0.36788	2.145447	0.999982518813961	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	3.55	0.39770	1.680000	0.37224	3.321000	0.37545	0.599000	0.40250	0.266000	0.25007	0.998000	0.33993	0.547000	0.30103	0.3155:0.601:0.0:0.0835	6.631	0.22049	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1632.83	33	chr9	136407264	.	C	G	1632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.24;DP=308;ExcessHet=0;FS=3.28;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.295;SOR=0.437	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1643,0,1690	5	0	1	0
chr9	136504898	136504898	C	T	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon26:c.G4793A:p.R1598H	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	510069	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Aortic_valve_disease_1|Adams-Oliver_syndrome_5	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0024523,MedGen:C3887892,OMIM:109730|MONDO:MONDO:0014459,MedGen:C4014970,OMIM:616028,Orphanet:974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.140346222394	.	.	0.0001	0.0003	0	0	0	0.0002	0	0.0001	3.88e-05	6	154602	rs755124691	7.679e-05	8.345e-05	7.473e-05	7.888e-05	0.0003	6.512e-05	6.06e-05	6.869e-05	6.361e-05	3.028e-05	7.428e-05	0	0	2.018e-05	0.0003	8.286e-05	0.0001	7.29e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	5.284e-05	2.834e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	0.188	0.21304	T	0.759	0.04652	T	0.093	0.25333	B	0.02	0.19048	B	0.000023	0.55875	N	0.120960	0.999997	0.58761	D	1.21	0.30464	L	-2.0	0.85393	D	-0.16	0.09460	N	0.266	0.30118	-0.6430	0.63018	T	0.354	0.71696	T	10	0.2406252	0.41225	T	0.140346	0.82280	D	0.206	0.49396	0.662	0.79996	0.743473773353	0.74117	.	.	1.02302341206	0.75177	0.534981548786	0.43736	T	0.299808	0.67232	T	-0.0317255	0.47167	T	-0.283348	0.46459	T	0.0261470783072617	0.01425	T	0.715028	0.32735	T	0.20531413	0.42669	0.09250828	0.21805	0.20531413	0.42669	0.09250828	0.21805	-6.091	0.47035	T	.	.	.	.	.	.	.	2.890232	0.38275	20.7	0.39446284370798851	0.02722	0.93561	0.58553	D	AEFDGBHI	0.597087	0.59101	D	-0.337405448879681	0.27737	1.524266	-0.218936637762059	0.30856	1.741076	0.999999498337819	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.17	3.25	0.36363	4.774000	0.62033	0.052000	0.14014	0.535000	0.24933	1.000000	0.71638	0.001000	0.17328	0.628000	0.32104	0.0:0.8959:0.0:0.1041	9.988	0.41025	934	0.15400	Notch, NOD domain|Notch, NOD 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	.	.	.	.	.	.	.	.	0.08333	1767.83	33	chr9	136504898	.	C	T	1767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.274;DP=295;ExcessHet=0;FS=1.474;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.355;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,987	5	0	1	0
chr9	136802743	136802743	A	G	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon6:c.A623G:p.K208R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00475596979929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.063	0.45110	T	0.014	0.16867	B	0.006	0.12133	B	0.655004	0.10478	U	0.784881	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.7	0.19933	N	0.145	0.14622	-0.9854	0.33735	T	0.025	0.10777	T	10	0.06432903	0.08515	T	0.004756	0.11847	T	0.046	0.12618	0.193	0.10437	0.212008924253	0.20833	0.0683481228276021	0.06772	0.186762890968	0.20985	0.375207185745	0.21576	T	0.004008	0.03423	T	-0.34254	0.05214	T	-0.729811	0.04336	T	0.0338569563151856	0.02613	T	0.690331	0.29972	T	0.075246796	0.16938	0.071215786	0.15224	0.075246796	0.16938	0.071215786	0.15224	-4.019	0.24087	T	.	.	0.083	0.09094	B	.	.	1.493424	0.19208	14.15	0.96111042196835617	0.28745	0.10218	0.15785	N	AEFGBCI	0.081673	0.16529	N	-0.962038127462252	0.09423	0.44595	-0.891832573377879	0.12287	0.6311599	0.999995125799714	0.74766	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	4.83	3.92	0.44525	0.697000	0.25234	1.096000	0.24025	-0.145000	0.12313	0.274000	0.25084	0.472000	0.25058	0.656000	0.32857	0.1798:0.8202:0.0:0.0	12.227	0.53778	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1132.83	33	chr9	136802743	.	A	G	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.703;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=0.405;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,30:58:99:0|1:136802743_A_G:1143,0,1085:136802743	5	0	1	0
chr9	136802780	136802915	GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG	-	exonic	CCDC183	.	frameshift deletion	CCDC183:NM_001039374:exon6:c.660_666del:p.V221Gfs*3	.	372	1135	7	0	8	15	0.00307422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0007	0.0006	0.0006	0.0048	0.0006	0.0006	0.0042	0.0040	0.0048	0.0008	0.0014	0.0022	0.0002	0.0023	0.0003	0.0011	0.0014	0.0028	0.0034	0.0031	0.0025	0.0075	0.0026	0.0025	0.0068	0.0065	0.0075	0	0.0015	0.0015	0.0014	0.0003	0	0.0010	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	181.79	33	chr9	136802779	.	AGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG	A	181.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-4.885;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1424	5	0	1	0
chr9	136804610	136804610	A	G	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon7:c.A775G:p.S259G	.	411	1108	2	1	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00761442474391	.	0.00159744	0.0012	0	8.664e-05	0	0	0	0.0011	0.0084	0.0009832	152	154602	rs533711576	0.0004	0.0004	0.0002	0.0006	0.0067	0.0004	0.0004	0.0062	0.0060	5.974e-05	0	0	2.519e-05	0	0	7.195e-06	0.0006	0.0067	0.0002	0.0002	0.0001	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	4.813e-05	0	0	0	0	0	0	0	0	0.0066	0.139	0.25768	T	0.025	0.56192	D	0.041	0.21357	B	0.029	0.21540	B	0.978304	0.08111	U	0.987488	0.963078	0.26040	N	2.085	0.57729	M	2.61	0.13095	T	-2.09	0.47683	N	0.231	0.25989	-1.0588	0.12058	T	0.031	0.13199	T	10	0.004956305	0.00106	T	0.007614	0.20192	T	0.045	0.12272	0.199	0.11247	0.204665344411	0.20097	0.06015780008054954	0.05955	0.217750314826	0.24300	0.320023745298	0.13425	T	0.022614	0.17407	T	-0.568404	0.00226	T	-0.584684	0.14130	T	0.026244528841081	0.01439	T	0.686431	0.29515	T	0.13312235	0.30973	0.116870575	0.28213	0.13312235	0.30973	0.116870575	0.28212	-4.132	0.25760	T	.	.	0.083	0.09045	B	.	.	1.921804	0.24409	16.39	0.98353955066912313	0.40578	0.10944	0.16301	N	AEFDBHCI	0.128337	0.24607	N	-0.543598847448563	0.20684	1.092246	-0.506705920734285	0.21971	1.191093	0.999999999277579	0.74766	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.528226	0.09195	0	.	.	4.24	3.09	0.34677	1.911000	0.39567	6.838000	0.56708	0.756000	0.94297	0.016000	0.19238	1.000000	0.68203	0.616000	0.31793	0.8909:0.0:0.1091:0.0	6.954	0.23742	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	695.83	39	chr9	136804610	.	A	G	695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.515;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.935;SOR=0.606	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1234	5	0	1	0
chr9	137016008	137016008	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon22:c.C3271T:p.R1091W,ABCA2:NM_212533:exon22:c.C3361T:p.R1121W	.	426	1092	4	0	0	4	0.00182815	.	.	.	2414399	Intellectual_developmental_disorder_with_poor_growth_and_with_or_without_seizures_or_ataxia	MONDO:MONDO:0032930,MedGen:C5394135,OMIM:618808	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.668	0.724807968587	8.1e-05	.	9.275e-05	0	8.706e-05	0	0	0.0002	0	0	7.12e-05	11	154602	rs374438065	9.655e-05	9.645e-05	9.13e-05	0.0001	0.0003	8.318e-05	7.857e-05	9.469e-05	8.873e-05	0	8.947e-05	0	7.557e-05	0	0.0003	0.0001	9.938e-05	3.478e-05	7.459e-05	7.361e-05	0.0001	1.4e-05	0.0001	4.095e-05	3.218e-05	6.944e-05	5.116e-05	2.517e-05	0	7.16e-05	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.027	0.56640	D	0.999	0.77913	D	0.863	0.61398	P	0.000148	0.49130	U	0.134314	0.898953	0.36125	D	1.99	0.53851	M	-7.23	0.99857	D	-4.45	0.77717	D	0.646	0.66700	1.044	0.97986	D	0.990	0.99720	D	10	0.71702325	0.73413	D	0.724808	0.97779	D	0.668	0.87674	.	.	0.797305411769	0.79542	0.951782884879137	0.95162	2.21629160257	0.95813	0.464347183704	0.33906	T	0.955986	0.99398	D	0.0235676	0.54863	T	0.0605052	0.74278	D	0.329749791625902	0.26215	T	0.982102	0.93912	D	0.15554471	0.35149	0.09510133	0.22539	0.15554471	0.35148	0.09510133	0.22539	-9.755	0.72432	D	.	.	0.176	0.46085	B	.;.;.;.	.;.;.;.	2.279200	0.29141	18.03	0.99886622902998634	0.96126	0.27440	0.23278	N	AEFDGBI	0.487045	0.52596	N	-0.0906453320327648	0.37802	2.204592	-0.306994687993506	0.27873	1.549749	0.222550925182081	0.18372	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.2	1.15	0.19876	0.962000	0.28877	0.541000	0.19334	-0.244000	0.07312	0.112000	0.23030	0.007000	0.19602	0.757000	0.36037	0.0:0.0:0.5764:0.4236	12.858	0.57284	982	0.03397	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	930.83	33	chr9	137016008	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.85;DP=275;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.554;SOR=1.018	GT:AD:DP:GQ:PL	0/1:57,36:93:99:941,0,1309	5	0	1	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1099.83	34	chr9	137186288	.	C	T	1099.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.968;SOR=0.693	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1110,0,1501	5	0	1	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.08333	891.83	73	chr9	137215195	.	C	T	891.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.611;DP=270;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.188;SOR=0.901	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,109,1450	5	0	1	0
chr9	137216124	137216124	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon12:c.C1483T:p.R495W,NDOR1:NM_001144026:exon13:c.C1612T:p.R538W,NDOR1:NM_001144028:exon13:c.C1564T:p.R522W,NDOR1:NM_014434:exon13:c.C1585T:p.R529W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.366154118253	.	.	2.49e-05	0	0	0	0	4.547e-05	0	0	1.94e-05	3	154602	rs772586457	1.095e-05	1.094e-05	9.533e-06	1.238e-05	0.0001	6.48e-06	5.25e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	5.396e-06	0	0.0001	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.007	0.65419	D	0.012	0.69154	D	0.998	0.73220	D	0.84	0.60170	P	0.137729	0.18403	N	0.511199	0.966999	0.38566	D	1.355	0.33814	L	-2.26	0.87352	D	-3.84	0.75375	D	0.502	0.62950	0.235	0.86502	D	0.669	0.88531	D	10	0.7511705	0.75648	D	0.366154	0.92633	D	0.511	0.79033	0.679	0.81691	0.848258187161	0.84680	0.5958920508438711	0.59519	0.676876934702	0.59801	0.405906617641	0.25890	T	0.267882	0.63995	T	-0.0132005	0.49816	T	-0.149081	0.59324	T	0.760704100131989	0.43892	D	0.906209	0.71352	D	0.16519989	0.36777	0.1655091	0.38285	0.16519989	0.36776	0.1655091	0.38284	-4.924	0.49079	T	.	.	0.135	0.29339	B	.;.;.;.	.;.;.;.	4.434137	0.68789	25.3	0.99700309394144704	0.80591	0.23526	0.22104	N	AEFDGBI	0.319144	0.42263	N	-0.120687133850886	0.36492	2.110093	-0.187956920831399	0.31978	1.814861	0.999994734446183	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.06	3.12	0.34986	0.440000	0.21309	1.761000	0.28554	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.823000	0.38780	0.1973:0.8027:0.0:0.0	10.394	0.43374	988	0.01987	.;.;.;Oxidoreductase FAD/NAD(P)-binding|Flavoprotein pyridine nucleotide cytochrome reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1121.83	43	chr9	137216124	.	C	T	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=268;ExcessHet=0;FS=0.965;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.767;SOR=0.846	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1411	5	0	1	0
chr9	137279855	137279855	C	A	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.C1166A:p.A389D	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	7.7e-05	0.00579073	0.0083	0	0.0009	0	0	3.945e-05	0	0.0381	0.003454	534	154602	rs199638778	0.0020	0.0020	0.0011	0.0028	0.0324	0.0019	0.0019	0.0313	0.0309	6.024e-05	4.751e-05	0	2.579e-05	0	0.0016	1.63e-05	0.0021	0.0324	0.0011	0.0011	0.0005	0.0017	0.0323	0.0009	0.0009	0.0281	0.0266	0.0001	0	0.0002	0	0	0	0	0	0.0005	0.0323	0.314	0.13834	T	0.271	0.22291	T	0.031	0.20130	B	0.01	0.14941	B	0.053531	0.22801	N	0.486110	0.807614	0.34596	D	1.995	0.54099	M	0.44	0.56609	T	0.71	0.02130	N	0.135	0.13198	-0.9298	0.44168	T	0.121	0.42058	T	10	0.0029107034	0.00047	T	.	.	.	0.101	0.28911	.	.	0.166414681773	0.16258	0.6049456246572906	0.60425	1.69134969673	0.90132	0.676560103893	0.63776	T	0.009468	0.08620	T	-0.430063	0.01481	T	-0.366158	0.37338	T	0.0239424817061536	0.01138	T	0.553245	0.19112	T	0.18322791	0.39580	0.17690974	0.40257	0.18322791	0.39580	0.17690974	0.40257	-4.559	0.31652	T	.	.	0.132	0.28550	B	.	.	1.626469	0.20771	14.90	0.97113217363356841	0.32422	0.14666	0.18523	N	AEFGBCI	0.177914	0.30517	N	-0.575316679759639	0.19696	1.032871	-0.530826938593484	0.21318	1.152666	0.999998741226594	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.68	3.75	0.42236	0.274000	0.18443	1.114000	0.24184	0.583000	0.30283	0.000000	0.06391	0.603000	0.25729	0.024000	0.12247	0.0:0.5763:0.4237:0.0	10.775	0.45548	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003058	0.000000	0.001362	0.005917	0.000000	0.017544	0.003067	0.003788	0.08333	979.83	35	chr9	137279855	.	C	A	979.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.31;DP=256;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.422;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1062	5	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.015152	0.010870	0.014620	0.000000	0.000000	0.006098	0.022901	0.08333	735.83	37	chr9	137306981	.	G	A	735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.267;DP=227;ExcessHet=0;FS=2.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.388;SOR=0.404	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1187	5	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:73,21:94:12:12,0,1394	1	0	5	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	3500.03	51	chr10	3138965	.	G	C	3500.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.91;DP=419;ExcessHet=1.383;FS=9.383;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.474;SOR=1.169	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1219,0,1464	3	0	3	0
chr10	3782052	3782052	T	C	exonic	KLF6	.	nonsynonymous SNV	KLF6:NM_001160124:exon2:c.A265G:p.T89A,KLF6:NM_001160125:exon2:c.A265G:p.T89A,KLF6:NM_001300:exon2:c.A265G:p.T89A	Gastric cancer, somatic;Prostate cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00357642783364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.03373	T	0.765	0.04982	T	0.0	0.02946	B	0.0	0.04355	B	0.073544	0.21339	N	0.533444	0.999985	0.18198	N	-1.24	0.00794	N	3.49	0.50459	T	-0.07	0.13226	N	0.027	0.00571	-1.0213	0.23292	T	0.029	0.12278	T	10	0.0272474	0.00874	T	0.003576	0.08154	T	0.036	0.09122	0.156	0.05964	0.336424232111	0.33258	0.19729649530202537	0.19646	0.819905421968	0.67108	0.278014034033	0.07217	T	0.276623	0.64921	T	-0.35551	0.04390	T	-0.748442	0.03546	T	0.0367035965253798	0.03104	T	0.421058	0.12757	T	0.017735535	0.00298	0.012796361	0.00000	0.017735535	0.00298	0.012796361	0.00000	-3.755	0.20134	T	.	.	0.099	0.16800	B	.;.;.	.;.;.	0.200807	0.05855	2.297	0.18610076326475888	0.00592	0.24813	0.22509	N	AEFDBHCIJ	0.160622	0.28658	N	-1.63857856656847	0.01084	0.04705385	-1.5772317000749	0.01795	0.0817142	0.999999999960677	0.74766	0.751926	0.98777	0	0.52208	0.09955	0	0.639134	0.45391	0	0.56214	0.19341	0	.	.	4.91	-4.37	0.03381	0.531000	0.22759	-1.189000	0.06074	-1.516000	0.01010	0.999000	0.42656	0.000000	0.08366	0.000000	0.00833	0.4168:0.0832:0.2428:0.2572	1.482	0.02292	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1326.83	36	chr10	3782052	.	T	C	1326.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.716;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.45;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	5	0	1	0
chr10	5749335	5749335	C	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5671G:p.Q1891E,TASOR2:NM_017782:exon15:c.C5914G:p.Q1972E,TASOR2:NM_001321783:exon16:c.C5914G:p.Q1972E,TASOR2:NM_001321784:exon16:c.C5914G:p.Q1972E	.	434	1084	4	0	0	4	0.00184162	.	.	.	3324503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.00474600034647	.	0.000399361	8.29e-05	0	0.0002	0.0003	0	1.501e-05	0.0011	0.0002	7.76e-05	12	154602	rs191866446	6.704e-05	6.704e-05	4.764e-05	8.663e-05	0.0007	5.628e-05	5.171e-05	0.0005	0.0005	8.961e-05	2.236e-05	0	0.0007	0	0	1.799e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0021	8.161e-05	6.718e-05	0.0012	0.0009	7.215e-05	0	0	0	0.0021	0	0	2.94e-05	0	0.0006	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000011	0.62929	D	0.000000	0.973254	0.39010	D	2.34	0.67151	M	3.2	0.07236	T	-0.84	0.22944	N	0.466	0.50237	-1.2025	0.00132	T	0.070	0.28577	T	10	0.0635927	0.08306	T	0.004746	0.11816	T	0.202	0.48754	.	.	0.266724437049	0.26276	0.49904007627170066	0.49825	0.272122387296	0.29726	0.383365750313	0.22732	T	0.119771	0.44153	T	-0.339938	0.05392	T	-0.36304	0.37700	T	0.149849353029152	0.17092	T	0.835616	0.50622	T	0.17523038	0.38371	0.3280949	0.58702	0.17523038	0.38371	0.3280949	0.58701	-2.579	0.06345	T	.	.	0.118	0.43186	B	.;.	.;.	4.266643	0.64883	24.8	0.9954827777622921	0.70961	0.94329	0.60819	D	AEFBCI	0.434324	0.49542	N	0.738559775080888	0.82158	7.69408	0.750072832408672	0.86162	8.802024	0.999999999991848	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.362000	0.65850	7.634000	0.62871	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	20.219	0.98325	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1316.83	37	chr10	5749335	.	C	G	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.386;DP=310;ExcessHet=0;FS=1.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.5;SOR=0.538	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1286	5	0	1	0
chr10	5883056	5883056	C	G	exonic	ANKRD16	.	nonsynonymous SNV	ANKRD16:NM_001009941:exon5:c.G799C:p.D267H,ANKRD16:NM_001009943:exon5:c.G799C:p.D267H,ANKRD16:NM_019046:exon5:c.G799C:p.D267H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0823350645488	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.069e-05	3.23e-05	5	154602	rs767638305	7.046e-05	7.046e-05	7.624e-05	6.463e-05	0.0003	5.914e-05	5.523e-05	7.222e-05	6.712e-05	0	2.236e-05	0	0	0	0.0003	8.633e-05	1.656e-05	3.478e-05	4.598e-05	4.596e-05	5.136e-05	4.034e-05	7.347e-05	2.108e-05	1.526e-05	2.846e-05	1.858e-05	2.412e-05	0	6.54e-05	0	0	0	0	7.347e-05	0	0	0.069	0.40319	T	0.004	0.74150	D	0.973	0.57599	D	0.886	0.62898	P	0.000000	0.84330	D	0.049891	0.995354	0.42654	D	1.185	0.30054	L	2.33	0.64264	T	-2.56	0.55339	D	0.306	0.41754	-0.4582	0.70128	T	0.307	0.67740	T	10	0.28618282	0.46201	T	0.082335	0.73877	D	0.169	0.43123	0.45	0.51121	0.709502071467	0.70696	0.49665571805162007	0.49586	0.789225596	0.65689	0.354228407145	0.18543	T	0.006023	0.05459	T	-0.172395	0.24873	T	-0.293728	0.45383	T	0.348710805177689	0.26968	T	0.944506	0.81134	D	0.17418323	0.38208	0.1214992	0.29314	0.17418323	0.38207	0.1214992	0.29313	-6.765	0.52298	T	.	.	0.249	0.51575	B	.;.;.	.;.;.	3.103690	0.41837	21.4	0.99272522571961697	0.57593	0.96477	0.69334	D	AEFBI	0.402771	0.47673	N	0.237441720278377	0.53021	3.47302	0.152900830927176	0.47295	2.961961	0.999964850797757	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	2.398000	0.44140	2.173000	0.31069	0.599000	0.40250	0.986000	0.36153	0.975000	0.29991	0.021000	0.11733	0.0:0.7911:0.0:0.2089	7.371	0.25973	819	0.41190	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1306.83	125	chr10	5883056	.	C	G	1306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.934;DP=332;ExcessHet=0;FS=2.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=1.2;SOR=0.921	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	5	0	1	0
chr10	7738692	7738692	G	A	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon16:c.G2029A:p.V677M	.	431	1088	3	0	0	3	0.00137678	.	.	.	2372978	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00667086922346	.	0.000199681	0.0001	0	0	0	0	7.504e-05	0	0.0005	0.0001035	16	154602	rs188916946	9.307e-05	9.303e-05	8.034e-05	0.0001	0.0005	8.028e-05	7.521e-05	0.0003	0.0003	0	0	0	5.053e-05	0	0	8.455e-05	1.656e-05	0.0005	5.255e-05	5.249e-05	6.427e-05	4.03e-05	0.0004	2.556e-05	1.83e-05	7.307e-05	3.035e-05	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0004	0.24	0.17881	T	0.335	0.18617	T	0.003	0.11197	B	0.001	0.04355	B	0.000002	0.00162	N	5.516080	1	0.08975	N	0	0.06538	N	4.86	0.01459	T	-0.42	0.14193	N	0.047	0.01911	-0.9144	0.46298	T	0.003	0.00994	T	10	0.017674953	0.00379	T	0.006671	0.17614	T	0.037	0.09474	.	.	0.115124310173	0.11017	0.33675470094229404	0.33588	0.0848104239452	0.09583	0.268978118896	0.06007	T	0.016589	0.13686	T	-0.587843	0.00173	T	-0.752171	0.03402	T	0.0327579505849031	0.02432	T	0.364964	0.08484	T	0.029245585	0.02388	0.04870489	0.07290	0.029245585	0.02388	0.04870489	0.07289	-4.086	0.25083	T	.	.	0.075	0.06341	B	.;.	.;.	0.036971	0.04542	1.234	0.46173277324031675	0.03678	0.01731	0.05474	N	AEFDBI	0.546354	0.56049	D	-1.64354856078159	0.01063	0.04610888	-1.69420268207419	0.01163	0.05233145	0.890478731420678	0.25837	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.23	-7.84	0.01061	-0.282000	0.08478	-0.225000	0.10728	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3974:0.0894:0.5132:0.0	9.691	0.39293	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2514.83	148	chr10	7738692	.	G	A	2514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.52;DP=332;ExcessHet=0;FS=8.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-0.269;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	0	1	0
chr10	7756111	7756111	A	G	exonic	KIN	.	nonsynonymous SNV	KIN:NM_012311:exon13:c.T1151C:p.I384T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0039368840257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.399e-05	0.0003	4.18e-05	2.612e-05	8.079e-05	2.619e-05	2.347e-05	2.855e-05	2.514e-05	6.374e-05	0	4.066e-05	8.079e-05	1.971e-05	0	3.789e-05	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.006	0.61437	D	0.021	0.58089	D	0.508	0.37280	P	0.363	0.43280	B	0.000000	0.84330	D	0.052984	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.65	0.56787	D	0.722	0.72388	-0.5308	0.67511	T	0.274	0.64546	T	9	0.7252121	0.73927	D	0.003937	0.09305	T	0.314	0.63588	0.537	0.64730	0.741118493395	0.73879	0.7471248489971644	0.74658	0.510940460383	0.49191	0.853174448013	0.90093	D	0.576494	0.86063	D	0.386477	0.89117	D	0.317371	0.88980	D	0.955519378185272	0.64527	D	0.937406	0.76468	D	0.5480004	0.69844	0.38756275	0.63621	0.5480004	0.69845	0.38756275	0.63621	-8.613	0.65175	D	.	.	0.672	0.71831	P	.	.	4.067428	0.60402	24.2	0.99631331253261091	0.76081	0.98487	0.83297	D	AEFBI	0.734415	0.68055	D	0.428576080001684	0.62999	4.525481	0.526030091445756	0.69748	5.404778	0.977746965970882	0.29851	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.81	5.81	0.92413	7.258000	0.77783	11.135000	0.86907	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.158	0.81492	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	109.06	35	chr10	7756111	.	A	G	109.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=290;ExcessHet=0.4139;FS=50.627;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=0.839;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:71:.:.:0,71,1340:.	4	0	2	0
chr10	7965187	7965192	GAAAGA	-	exonic	TAF3	.	nonframeshift deletion	TAF3:NM_031923:exon3:c.1677_1682del:p.E563_K564del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0002	0.0007	8.872e-05	0.0008	0	3.16e-05	0	0.0004	0.0001358	21	154602	rs750451523	4.812e-05	4.788e-05	4.103e-05	5.53e-05	0.0004	3.879e-05	3.558e-05	0.0003	0.0002	0.0003	6.972e-05	0	0.0004	0	0	6.305e-06	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0018	0.0001	0.0001	0.0009	0.0007	0.0004	0	0	0	0.0018	0	0	1.479e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1150.79	33	chr10	7965186	.	TGAAAGA	T	1150.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.867;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.02;ReadPosRankSum=0.023;SOR=0.826	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1124	5	0	1	0
chr10	12089191	12089191	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon5:c.G923A:p.R308H	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	569524	Inborn_genetic_diseases|2-aminoadipic_2-oxoadipic_aciduria	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0916659948144	7.7e-05	0.000199681	0.0001	0	0	0.0005	0.0005	3.001e-05	0.0033	0.0002	0.00011	17	154602	rs17849603	7.183e-05	7.182e-05	5.989e-05	8.388e-05	0.0006	6.047e-05	5.595e-05	0.0004	0.0004	2.987e-05	0	3.826e-05	0.0004	3.745e-05	0.0002	2.518e-05	0.0001	0.0006	7.224e-05	7.218e-05	5.14e-05	9.401e-05	0.0004	3.969e-05	3.126e-05	7.29e-05	3.029e-05	0	0	0.0001	0	0.0002	0.0002	0	5.88e-05	0	0.0004	0.131	0.36509	T	0.215	0.32783	T	0.842	0.46562	P	0.553	0.49313	P	0.033677	0.24868	N	0.417546	1	0.08975	N	0.91	0.23283	L	2.49	0.90622	T	-1.21	0.40850	N	0.215	0.24010	-0.2815	0.75500	T	0.587	0.85193	D	10	0.051202178	0.04966	T	0.091666	0.75749	D	0.091	0.26358	.	.	0.677721526675	0.67498	0.48435527858761407	0.48355	0.143373875774	0.16180	0.285297036171	0.08241	T	0.19487	0.55078	T	-0.189424	0.22341	T	-0.153494	0.58933	T	0.0335003462052224	0.02554	T	0.934707	0.75503	D	0.09166513	0.21486	0.060785774	0.11633	0.09166513	0.21485	0.060785774	0.11632	-7.992	0.61016	D	0.17024256293042936	0.21393	0.076	0.19316	B	.;.;.	.;.;.	2.636325	0.34295	19.59	0.99666949916125036	0.78330	0.20931	0.21221	N	AEFDBI	0.350098	0.44366	N	-0.305237127621016	0.28949	1.601076	-0.420973824878738	0.24383	1.334867	0.00169820191311203	0.08790	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.43	3.19	0.35720	1.989000	0.40328	4.305000	0.42952	0.676000	0.76740	0.014000	0.18986	0.966000	0.29516	0.017000	0.10941	0.178:0.0:0.5744:0.2475	5.928	0.18357	679	0.60090	Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1904.83	33	chr10	12089191	.	G	A	1904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=350;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.151;SOR=0.939	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	5	0	1	0
chr10	13110382	13110382	A	T	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon3:c.A275T:p.E92V,OPTN:NM_001008212:exon4:c.A275T:p.E92V,OPTN:NM_001008211:exon5:c.A275T:p.E92V,OPTN:NM_001008213:exon5:c.A275T:p.E92V	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	513590	not_provided|Glaucoma_1,_open_angle,_E|Amyotrophic_lateral_sclerosis_type_12|Primary_open_angle_glaucoma|Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis	MedGen:C3661900|MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.552	0.245342433157	0.0002	.	8.289e-05	0	8.678e-05	0	0	3.014e-05	0	0.0004	6.47e-05	10	154602	rs202044898	5.13e-05	5.13e-05	3.948e-05	6.325e-05	0.0010	4.192e-05	3.823e-05	0.0005	0.0003	8.961e-05	8.944e-05	0.0003	0	0	0.0010	2.158e-05	0.0002	0.0002	3.939e-05	3.937e-05	3.854e-05	4.028e-05	5.88e-05	1.714e-05	1.129e-05	1.972e-05	1.124e-05	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000008	0.62929	D	0.175841	0.999993	0.58761	D	2.57	0.75187	M	-2.52	0.89363	D	-4.73	0.80085	D	0.586	0.70351	0.743	0.93703	D	0.798	0.93163	D	10	0.7344347	0.74522	D	0.245342	0.88882	D	0.552	0.81485	.	.	0.985968990554	0.98581	0.5325789762629505	0.53182	0.639214891415	0.57598	0.412130177021	0.26752	T	0.721785	0.92143	D	0.0380823	0.56794	T	0.11725	0.78052	D	0.898508369922638	0.55062	D	0.834017	0.50309	T	0.8892774	0.90445	0.6687421	0.80569	0.8892774	0.90446	0.6687421	0.80570	-7.995	0.61784	D	0.6424808526083101	0.71340	0.196	0.41813	B	.;.;.;.;.;.	.;.;.;.;.;.	4.217485	0.63767	24.6	0.9923460429432982	0.56342	0.95317	0.64251	D	AEFGBI	0.635791	0.61518	D	0.66932502101077	0.77624	6.710682	0.629105703071549	0.77065	6.607814	0.993101583902399	0.33087	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.298000	0.65504	8.036000	0.76294	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	1.0:0.0:0.0:0.0	13.985	0.63846	952	0.10565	NF-kappa-B essential modulator NEMO, N-terminal;.;NF-kappa-B essential modulator NEMO, N-terminal;.;NF-kappa-B essential modulator NEMO, N-terminal;NF-kappa-B essential modulator NEMO, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	399.83	37	chr10	13110382	.	A	T	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.95;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.821;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	5	0	1	0
chr10	13124053	13124053	A	T	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon8:c.A941T:p.Q314L,OPTN:NM_001008212:exon9:c.A941T:p.Q314L,OPTN:NM_001008211:exon10:c.A941T:p.Q314L,OPTN:NM_001008213:exon10:c.A941T:p.Q314L	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	260885	not_provided|Motor_neuron_disease|Primary_open_angle_glaucoma|Glaucoma_1,_open_angle,_E|Amyotrophic_lateral_sclerosis_type_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.274008816604	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs142812715	0.0001	0.0001	8.985e-05	0.0001	0.0009	9.402e-05	8.885e-05	0.0003	0.0002	0	8.951e-05	0.0003	0	1.873e-05	0.0009	0.0001	0.0001	1.16e-05	7.224e-05	7.222e-05	7.704e-05	6.721e-05	0.0002	3.969e-05	3.126e-05	9.046e-05	7.01e-05	0	0	0	0	0	0	0	0.0002	0	0	0.005	0.63226	D	0.152	0.34837	T	0.999	0.90584	D	0.962	0.75793	D	0.000001	0.84330	N	0.097074	0.99998	0.54805	D	2.54	0.74080	M	-2.41	0.88611	D	-4.78	0.81910	D	0.863	0.85979	0.678	0.92896	D	0.790	0.92875	D	10	0.860572	0.85275	D	0.274009	0.89986	D	0.738	0.90895	.	.	0.964764686011	0.96438	0.35367511590322304	0.35281	0.696005667869	0.60837	0.552599072456	0.46224	T	0.558293	0.85169	D	0.124077	0.66779	D	0.239388	0.85120	D	0.836075603961945	0.49010	D	0.837416	0.50983	T	0.3412119	0.56376	0.24317247	0.49755	0.32062453	0.54693	0.25503835	0.51178	-5.16	0.38881	T	0.665693735081604	0.73990	0.393	0.59188	A	.;.;.;.;.;.	.;.;.;.;.;.	4.776188	0.77372	26.7	0.99524233360155234	0.69469	0.96886	0.71475	D	AEFBI	0.649121	0.62369	D	0.461066120218178	0.64832	4.747036	0.416112380810645	0.62566	4.474424	0.472674538270319	0.20720	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.03	0.67015	7.461000	0.79870	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8702:0.0:0.0:0.1298	12.009	0.52568	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	261.83	29	chr10	13124053	.	A	T	261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.58;SOR=0.871	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,874	5	0	1	0
chr10	13611615	13611615	G	A	exonic	PRPF18	.	nonsynonymous SNV	PRPF18:NM_003675:exon6:c.G511A:p.A171T	.	429	1059	31	3	0	37	0.0171694	0.0010	0.142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0078	0.00678914	0.0083	0.0020	0.0078	0	0.0091	0.0096	0.0110	0.0114	0.0084087	1300	154602	rs62640925	0.0094	0.0095	0.0091	0.0096	0.0128	0.0092	0.0092	0.0105	0.0097	0.0015	0.0107	0.0150	2.52e-05	0.0091	0.0128	0.0097	0.0091	0.0105	0.0078	0.0079	0.0080	0.0077	0.0133	0.0075	0.0073	0.0118	0.0112	0.0019	0	0.0133	0.0153	0.0002	0.0082	0.0238	0.0101	0.0133	0.0104	0.546	0.06669	T	0.517	0.10572	T	0.008	0.14655	B	0.005	0.11217	B	0.000145	0.49130	N	0.210179	0.999999	0.58761	D	1.53	0.38800	L	.	.	.	0.01	0.06868	N	0.138	0.13626	-1.0392	0.17556	T	0.100	0.37162	T	8	0.005205065	0.00113	T	.	.	.	0.108	0.30607	.	.	0.302459207581	0.29844	0.41723726718448145	0.41639	0.774615165967	0.64958	0.521854639053	0.41887	T	0.019352	0.15433	T	-0.529063	0.00389	T	-0.520415	0.20252	T	0.00629290134475982	0.00070	T	0.838616	0.53598	T	0.041489	0.06119	0.07544694	0.16611	0.041489	0.06119	0.07544694	0.16610	-4.813	0.34743	T	.	.	0.078	0.42022	B	.;.;.	.;.;.	2.109147	0.26843	17.26	0.8594313577818038	0.16211	0.90310	0.51384	D	AEFBI	0.475305	0.51920	N	-0.347424565521786	0.27366	1.500914	-0.272580887782374	0.29004	1.621657	0.999536883503773	0.40238	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	2.66	0.30672	5.159000	0.64769	4.033000	0.41356	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.101000	0.18331	0.2109:0.0:0.7891:0.0	10.463	0.43779	792	0.45996	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.015152	0.006793	0.008772	0.050000	0.017241	0.012195	0.011364	0.08333	895.83	39	chr10	13611615	.	G	A	895.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.645;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,40:87:99:906,0,1121	5	0	1	0
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	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	0.021652	0.015152	0.031250	0.038012	0.000000	0.025862	0.009146	0.003788	0.08333	1647.83	38	chr10	14774379	.	G	C	1647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.434;DP=303;ExcessHet=0;FS=11.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.068;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1134	5	0	1	0
chr10	15834613	15834613	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon6:c.A61G:p.I21V,MINDY3:NM_024948:exon7:c.A580G:p.I194V	.	463	1058	1	0	0	1	0.000472367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00911663213332	0.0002	0.00159744	0.0008	0.0002	0.0011	0	0	0.0004	0	0.0032	0.0007438	115	154602	rs187883529	0.0004	0.0004	0.0003	0.0005	0.0021	0.0004	0.0004	0.0019	0.0018	3.006e-05	0.0013	0.0033	0	0	0.0020	0.0002	0.0010	0.0021	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0022	0.0020	0	0	0.0029	0.0023	0	0	0	0.0002	0.0005	0.0010	0.351	0.18823	T	0.395	0.15255	T	0.14	0.27540	B	0.097	0.30390	B	0.000000	0.84330	D	0.044245	0.999959	0.52396	D	.	.	.	1.63	0.28002	T	-0.52	0.16187	N	0.444	0.48227	-1.0864	0.06155	T	0.062	0.25958	T	10	0.009854585	0.00221	T	0.009117	0.23988	T	0.089	0.25827	.	.	0.102598925029	0.09809	0.3026063362788015	0.30173	0.265519276337	0.29109	0.593343734741	0.51965	T	0.037416	0.24468	T	-0.419719	0.01717	T	-0.380911	0.35616	T	0.0522342049505362	0.05887	T	0.941406	0.79334	D	0.10227875	0.24165	0.09362834	0.22123	0.10227875	0.24165	0.09362834	0.22123	-4.21	0.26896	T	.	.	0.079	0.11027	B	.;.;.	.;.;.	3.084859	0.41513	21.4	0.99020154169823271	0.50569	0.97917	0.78108	D	AEFBI	0.861726	0.77985	D	0.0212977709819951	0.42824	2.587589	0.212385502051825	0.50535	3.244441	0.998879834633068	0.37868	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.143000	0.76935	5.123000	0.47601	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.624	0.76583	834	0.38640	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.002924	0.000000	0.008621	0.003067	0.003788	0.08333	267.83	51	chr10	15834613	.	T	C	267.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=224;ExcessHet=0;FS=1.282;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-1.151;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	5	0	1	0
chr10	16920123	16920123	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon44:c.G6661A:p.V2221I	Megaloblastic anemia-1, Finnish type, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	525035	Imerslund-Grasbeck_syndrome_type_1|not_provided|Imerslund-Grasbeck_syndrome|Proteinuria,_chronic_benign	MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:C3661900|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MONDO:MONDO:0030042,MedGen:C5394384,OMIM:618884	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.01197038489	0.0003	.	0.0004	0	0.0004	0.0001	0	0.0003	0	0.0013	0.000304	47	154602	rs143291127	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	5.976e-05	0.0005	0	2.519e-05	0	0.0021	0.0002	0.0005	0.0013	0.0001	0.0001	0.0001	0.0002	0.0006	9.148e-05	7.704e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0	0.0001	0.0009	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.005	0.11217	B	0.105974	0.19635	N	0.363550	0.999992	0.08975	N	-0.885	0.01428	N	-0.67	0.72458	T	0.67	0.02263	N	0.052	0.02366	-0.9812	0.34724	T	0.077	0.30706	T	10	0.024776965	0.00694	T	0.01197	0.30115	T	0.113	0.31778	.	.	0.281381271821	0.27740	0.10384947785608019	0.10314	0.0663519528093	0.07400	0.228514015675	0.01860	T	0.027638	0.20195	T	-0.531857	0.00375	T	-0.577285	0.14787	T	0.00309759523876235	0.00032	T	0.533547	0.17787	T	0.019803261	0.00519	0.026514784	0.00745	0.019803261	0.00518	0.026514784	0.00745	-2.561	0.06212	T	0.057837205508164215	0.01428	0.056	0.00505	B	.	.	0.167143	0.05568	2.024	0.2080280432727579	0.00764	0.10280	0.15830	N	AEFGBI	0.032417	0.03657	N	-1.25401316700851	0.04247	0.1913003	-1.1040630880277	0.07623	0.3714886	0.272761863830425	0.18909	0.608966	0.35542	0	0.573888	0.26702	0	0.573888	0.23631	0	0.505526	0.08623	0	.	.	4.97	1.05	0.19280	1.942000	0.39870	0.467000	0.18675	-1.013000	0.01759	0.983000	0.35670	0.210000	0.23636	0.108000	0.18652	0.0:0.2334:0.1371:0.6294	5.421	0.15700	808	0.43318	CUB domain|CUB domain|CUB domain|CUB 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	975.83	36	chr10	16920123	.	C	T	975.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.932;DP=279;ExcessHet=0;FS=6.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.343;SOR=0.303	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	5	0	1	0
chr10	17866565	17866565	G	A	exonic	MRC1	.	nonsynonymous SNV	MRC1:NM_002438:exon12:c.G1787A:p.R596Q	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00920790702949	0.0016	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs141126876	0.0024	0.0024	0.0024	0.0024	0.0034	0.0023	0.0023	0.0033	0.0032	0.0007	0.0005	0.0001	0	0.0022	0.0010	0.0034	0.0017	0.0014	0.0018	0.0018	0.0020	0.0016	0.0030	0.0016	0.0015	0.0027	0.0025	0.0006	0.0022	0.0006	0	0	0.0022	0	0.0030	0.0009	0.0010	0.098	0.30800	T	0.155	0.31936	T	1.0	0.90584	D	0.998	0.88582	D	0.000142	0.49130	U	0.000000	0.999984	0.54805	D	0.805	0.20218	L	2.23	0.18083	T	-0.85	0.23156	N	0.253	0.28616	-1.0846	0.06480	T	0.049	0.20908	T	10	0.0084498525	0.00192	T	0.020178	0.42720	T	.	.	.	.	0.33174030287	0.32783	0.5757872907288191	0.57507	.	.	0.490102231503	0.37452	T	0.073413	0.34691	T	-0.539113	0.00339	T	-0.597616	0.13012	T	0.0270902598089905	0.01557	T	0.941806	0.78262	D	0.2872504	0.51736	0.107755624	0.25945	0.2872504	0.51736	0.107755624	0.25945	-8.126	0.61926	D	.	.	0.110	0.21049	B	.	.	5.100630	0.85226	28.5	0.9992766759737659	0.99163	0.71429	0.35009	D	AEFI	0.158459	0.28411	N	0.025905714576666	0.43035	2.604453	-0.0364214014129402	0.38083	2.238743	1.51361127134561E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	5.652000	0.67632	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.091:0.0:0.909:0.0	11.222	0.48089	900	0.24599	C-type lectin-like|C-type lectin-like|C-type lectin-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	0.002475	0.000000	0.001712	0.015385	0.000000	0.000000	0.000000	0.011628	0.08333	484.83	43	chr10	17866565	.	G	A	484.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.489;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	5	0	1	0
chr10	19146225	19146225	C	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon11:c.C1439G:p.S480W	.	558	962	2	0	0	2	0.00103842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0078377	204	26028	rs150497176	0.0109	0.0081	0.0111	0.0106	0.0121	0.0107	0.0106	0.0119	0.0119	0.0014	0.0049	0	7.541e-05	0.0018	0.0024	0.0121	0.0090	0.0033	0.0059	0.0059	0.0065	0.0054	0.0100	0.0056	0.0055	0.0094	0.0091	0.0017	0.0713	0.0033	0	0	0.0008	0	0.0100	0.0090	0.0015	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	0.008595616	0.00195	T	.	.	.	.	.	.	.	0.50055108712	0.49690	0.18437531268855128	0.18356	.	.	.	.	.	.	.	.	-0.448168	0.01158	T	-0.404863	0.32820	T	.	.	.	0.670533	0.27914	T	0.30839565	0.53647	0.41923356	0.65923	0.30839565	0.53647	0.41923356	0.65923	-7.163	0.55215	T	.	.	0.199	0.42244	B	.	.	3.649495	0.51790	23.1	0.46240814081258413	0.03689	0.92717	0.56374	D	AEFI	.	.	.	.	.	.	.	.	.	3.44791246914266E-4	0.06626	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.715379	0.43294	5.33	4.4	0.52402	2.858000	0.48055	3.649000	0.39371	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1564:0.8436:0.0:0.0	13.498	0.60893	888	0.27761	MAM domain|MAM domain|MAM domain|MAM 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	.	.	.	.	.	.	.	.	0.08333	353.83	33	chr10	19146225	.	C	G	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.049;DP=222;ExcessHet=0;FS=1.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=0.243;SOR=0.99	GT:AD:DP:GQ:PL	0/1:32,18:50:99:364,0,766	5	0	1	0
chr10	24219691	24219691	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282767:exon2:c.C136T:p.R46C,KIAA1217:NM_001282768:exon2:c.C136T:p.R46C,KIAA1217:NM_019590:exon2:c.C136T:p.R46C	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0718088779575	0.0032	0.00119808	0.0028	0.0004	0.0008	0	0.0017	0.0046	0	0.0002	0.0027555	426	154602	rs61850390	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0039	0.0039	0.0005	0.0009	0.0005	2.52e-05	0.0015	0.0002	0.0040	0.0023	0.0002	0.0025	0.0025	0.0029	0.0021	0.0048	0.0023	0.0022	0.0043	0.0042	0.0006	0	0.0008	0.0003	0	0.0008	0	0.0048	0.0014	0.0004	0.049	0.41096	D	0.06	0.56192	T	0.998	0.77913	D	0.731	0.58350	P	0.020431	0.27041	N	0.241275	0.991236	0.81001	D	1.355	0.33814	L	-0.02	0.62918	T	-1.16	0.30762	N	0.214	0.25253	-0.6000	0.64817	T	0.240	0.60750	T	10	0.0044635534	0.00092	T	0.071809	0.71368	D	0.180	0.45073	.	.	0.73376092387	0.73138	0.2366039852327138	0.23575	0.175079127471	0.19712	0.383674353361	0.22777	T	0.063626	0.53516	T	-0.371655	0.03511	T	-0.30664	0.44018	T	0.0176007069699794	0.00493	T	0.922308	0.71764	D	0.07317591	0.16333	0.047704797	0.06930	0.07317591	0.16333	0.047704797	0.06930	-4.804	0.35191	T	.	.	0.093	0.24800	B	.;.;.;.;.;.	.;.;.;.;.;.	3.523485	0.49401	22.8	0.99897593506595561	0.97048	0.28478	0.23565	N	AEFBI	0.307020	0.41401	N	-0.0939066373005908	0.37659	2.194206	-0.0994290114890279	0.35414	2.048593	0.997257065555324	0.35425	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.87	4.96	0.65153	1.025000	0.29695	2.214000	0.31393	-0.223000	0.07921	0.530000	0.27189	0.977000	0.30130	0.904000	0.43992	0.2748:0.7252:0.0:0.0	14.043	0.64208	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	717.83	41	chr10	24219691	.	C	T	717.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=246;ExcessHet=0;FS=5.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.553;SOR=1.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	5	0	1	0
chr10	24543238	24543238	C	G	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.C3968G:p.T1323S	.	416	1097	6	3	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0091393955991	.	0.00119808	0.0005	0	0	0	0.0002	6.039e-05	0	0.0036	0.0004722	73	154602	rs199890594	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	2.987e-05	0	0	0	0	0.0007	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	8.74e-05	0.0019	0.0016	0	0	0.0001	0	0	0	0	8.827e-05	0	0.0031	0.24	0.17701	T	1.0	0.02348	T	0.006	0.17573	B	0.003	0.16460	B	0.073897	0.02281	N	1.807420	1	0.08975	N	1.905	0.50856	L	2.01	0.28836	T	-0.05	0.10656	N	0.048	0.01999	-1.0775	0.07841	T	0.057	0.24018	T	10	0.004551202	0.00094	T	0.009139	0.24036	T	0.019	0.03383	0.262	0.20631	0.190952846119	0.18690	0.25949108646383606	0.25863	0.109122026774	0.12303	0.221402317286	0.01392	T	0.075827	0.35272	T	-0.660599	0.00062	T	-0.724732	0.04570	T	0.0675783231854439	0.08308	T	0.364964	0.08484	T	0.037136853	0.04704	0.02508658	0.00542	0.037136853	0.04704	0.02508658	0.00542	-2.653	0.07079	T	.	.	0.086	0.13080	B	.;.	.;.	0.299556	0.06756	3.267	0.26786485108634533	0.01299	0.22660	0.21821	N	AEFBCI	0.126577	0.24358	N	-1.36717920388515	0.02951	0.1310809	-1.37797892533313	0.03488	0.1627928	0.987924741475443	0.31374	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.66	0.466	0.15928	0.302000	0.18947	0.573000	0.19627	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.4508:0.2256:0.2102	2.814	0.05117	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1595.83	76	chr10	24543238	.	C	G	1595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.023;DP=343;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.509;SOR=0.79	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H	.	426	1092	4	0	0	4	0.00182815	.	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.008152	0.023392	0.000000	0.000000	0.000000	0.000000	0.08333	1135.83	76	chr10	24543815	.	A	C	1135.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.754;DP=346;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.2;SOR=0.892	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr10	24984815	24984815	T	C	exonic	ENKUR	.	nonsynonymous SNV	ENKUR:NM_001270383:exon5:c.A499G:p.R167G,ENKUR:NM_145010:exon5:c.A685G:p.R229G	.	430	1091	1	0	0	1	0.000458085	.	.	.	2813049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00300766377726	0.0047	0.000998403	0.0045	0.0015	0.0024	0	0.0082	0.0066	0.0044	0.0002	0.0043466	672	154602	rs33980615	0.0056	0.0056	0.0056	0.0056	0.0063	0.0055	0.0055	0.0062	0.0062	0.0009	0.0038	0.0077	0	0.0080	0.0010	0.0063	0.0049	0.0002	0.0050	0.0050	0.0050	0.0050	0.0066	0.0047	0.0046	0.0061	0.0059	0.0016	0.0571	0.0054	0.0081	0	0.0066	0.0034	0.0066	0.0052	0.0004	0.028	0.46129	D	0.051	0.50809	T	0.772	0.43974	P	0.243	0.45338	B	0.024490	0.26253	N	0.453783	0.852969	0.28469	N	1.15	0.29295	L	.	.	.	-4.28	0.76334	D	0.271	0.30687	-0.9987	0.30283	T	0.076	0.30492	T	9	0.007371098	0.00167	T	0.003008	0.06457	T	0.063	0.18251	.	.	0.167679373172	0.16340	0.5162962841369829	0.51552	0.0930623830389	0.10513	0.360368400812	0.19439	T	0.075543	0.39389	T	-0.480793	0.00731	T	-0.460513	0.26542	T	0.054717674851808	0.06311	T	0.830717	0.49671	T	0.27724168	0.50783	0.28843197	0.54859	0.27724168	0.50783	0.28843197	0.54858	-8.943	0.67329	D	.	.	0.185	0.42022	B	.;.;.	.;.;.	3.715587	0.53073	23.3	0.99604770556135558	0.74456	0.80506	0.40126	D	AEFBI	0.440438	0.49900	N	0.110078104043824	0.46933	2.926148	0.171421204741629	0.48289	3.046753	0.00436624500466336	0.10516	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	1.322000	0.33295	7.875000	0.72177	0.665000	0.62972	0.799000	0.29708	1.000000	0.68203	0.881000	0.42162	0.0:0.0:0.1473:0.8527	11.740	0.51055	529	0.73716	Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain;Enkurin domain|Enkurin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	573.83	34	chr10	24984815	.	T	C	573.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=231;ExcessHet=0;FS=2.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.806;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1138	5	0	1	0
chr10	26217866	26217866	A	G	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon3:c.A161G:p.K54R,GAD2:NM_001134366:exon3:c.A161G:p.K54R	.	309	1211	1	1	0	3	0.00123711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0833496069102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.349	0.17531	T	0.001	0.07471	B	0.003	0.08700	B	0.000012	0.62929	N	0.144057	0.998938	0.45716	D	0.345	0.11182	N	0.09	0.61443	T	-0.5	0.15782	N	0.311	0.35088	-0.9777	0.35526	T	0.136	0.45184	T	10	0.17952982	0.33091	T	0.08335	0.74097	D	0.077	0.22490	0.26	0.20315	0.630073153171	0.62705	0.2878341751520797	0.28696	0.317564244989	0.34000	0.519422769547	0.41545	T	0.310644	0.68259	T	-0.14055	0.29803	T	-0.439667	0.28847	T	0.473260849714279	0.31650	T	0.665033	0.27384	T	0.06101452	0.12586	0.11331086	0.27347	0.06101452	0.12585	0.11331086	0.27346	-3.376	0.14735	T	.	.	0.091	0.13221	B	.;.	.;.	2.440699	0.31414	18.73	0.98362736056791322	0.40658	0.80202	0.39903	D	AEFDBHCI	0.564695	0.57138	D	-0.446733682575966	0.23851	1.28375	-0.294928399133239	0.28266	1.574563	0.99951310946177	0.40117	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.94	4.81	0.61401	3.762000	0.54962	5.892000	0.50774	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	0.8572:0.0:0.1428:0.0	9.054	0.35554	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000522	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	485.83	35	chr10	26217866	.	A	G	485.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.738;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.64;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	5	0	1	0
chr10	26566962	26566962	A	G	exonic	APBB1IP	.	nonsynonymous SNV	APBB1IP:NM_019043:exon15:c.A1475G:p.D492G	.	.	.	.	.	.	.	.	0.0079	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0718865945128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.342	0.17910	T	0.255	0.31319	B	0.071	0.27960	B	0.225014	0.16049	N	0.633204	0.995388	0.42667	D	2.295	0.65404	M	1.49	0.31470	T	-0.56	0.17003	N	0.221	0.24758	-1.0604	0.11656	T	0.088	0.34078	T	10	0.12987843	0.24714	T	0.071887	0.71389	D	0.081	0.23632	0.207	0.12356	0.480700223141	0.47699	0.3645293488699613	0.36366	0.703322537923	0.61263	0.431673765182	0.29437	T	0.007506	0.06912	T	-0.114124	0.34087	T	-0.401707	0.33186	T	0.754642367362976	0.43546	D	0.70393	0.31399	T	0.069747575	0.15308	0.06965358	0.14704	0.069747575	0.15307	0.06965358	0.14704	-2.896	0.09103	T	.	.	0.063	0.01387	B	.	.	2.077936	0.26430	17.11	0.98917798551817504	0.48491	0.86937	0.46332	D	AEFDBCI	0.379136	0.46227	N	-0.0400295566127693	0.40049	2.371819	0.0117536341087818	0.40260	2.399848	0.999881507723863	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.77	4.77	0.60425	4.319000	0.58987	3.833000	0.40005	0.676000	0.76740	0.995000	0.38783	0.996000	0.32793	0.090000	0.17789	1.0:0.0:0.0:0.0	10.603	0.44569	638	0.64280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	254.84	8	chr10	26566962	.	A	G	254.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=87;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-0.514;SOR=0.582	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,740	5	0	1	0
chr10	27017749	27017749	C	T	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon30:c.G4256A:p.C1419Y,ANKRD26:NM_014915:exon30:c.G4259A:p.C1420Y	Thrombocytopenia 2, Autosomal dominant	156	1337	25	4	0	33	0.0121906	.	.	.	207737	not_specified|ANKRD26-related_disorder|not_provided|Thrombocytopenia_2	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.452	.	0.0014	0.00439297	0.0035	0.0004	0.0042	0	0.0012	0.0024	0.0089	0.0120	0.0032147	497	154602	rs146159734	0.0024	0.0024	0.0021	0.0027	0.0193	0.0023	0.0023	0.0164	0.0153	0.0007	0.0034	0.0024	2.527e-05	0.0015	0.0193	0.0017	0.0030	0.0104	0.0017	0.0017	0.0016	0.0018	0.0102	0.0015	0.0015	0.0079	0.0071	0.0004	0	0.0034	0.0026	0.0002	0.0008	0.0204	0.0016	0.0047	0.0102	0.095	0.35537	T	0.241	0.24334	T	.	.	.	.	.	.	0.004845	0.33331	U	0.169196	0.500123	0.31734	D	.	.	.	-1.15	0.77964	T	-7.14	0.94073	D	0.31	0.34981	-0.4094	0.71730	T	0.394	0.74706	T	10	0.01960659	0.00440	T	.	.	.	0.452	0.75211	.	.	0.523806315272	0.52025	0.0441974741003335	0.04363	0.0878064292668	0.09913	0.428612112999	0.29019	T	.	.	.	-0.2505	0.14037	T	-0.123207	0.61538	T	0.0218834906538314	0.00896	T	0.806819	0.45619	T	0.28968933	0.51963	0.37452072	0.62616	0.34960562	0.57037	0.51294774	0.71856	-7.384	0.56792	T	.	.	0.118	0.26825	B	.;.	.;.	2.132235	0.27144	17.36	0.67903168442057171	0.08495	0.11980	0.16984	N	AEFBI	0.074665	0.14971	N	-0.714204205558044	0.15621	0.7888936	-0.82370555127283	0.13921	0.7247595	6.57694041039541E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.83	0.708	0.17301	0.113000	0.15333	-0.851000	0.07178	0.578000	0.29377	0.052000	0.21487	0.000000	0.08366	0.405000	0.26894	0.3432:0.3953:0.0:0.2615	2.950	0.05499	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018649	0.030612	0.010870	0.040936	0.000000	0.034483	0.009146	0.011364	0.08333	722.83	33	chr10	27017749	.	C	T	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.82;DP=220;ExcessHet=0;FS=1.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.128;SOR=1.209	GT:AD:DP:GQ:PL	0/1:26,26:52:99:733,0,744	5	0	1	0
chr10	29481636	29481636	G	A	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon26:c.C3770T:p.T1257M,SVIL:NM_001323600:exon27:c.C3866T:p.T1289M,SVIL:NM_021738:exon28:c.C5048T:p.T1683M,SVIL:NM_001323599:exon29:c.C4118T:p.T1373M	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0138074620654	0.0002	0.000798722	0.0004	0.0002	8.637e-05	0	0	8.99e-05	0.0011	0.0027	0.0003881	60	154602	rs376114325	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0017	0.0016	0.0002	8.944e-05	0	2.519e-05	1.872e-05	0.0009	4.227e-05	0.0002	0.0019	0.0001	0.0001	9.001e-05	0.0001	0.0012	7.579e-05	6.284e-05	0.0005	0.0004	0.0002	0	0	0	0	0	0	4.412e-05	0	0.0012	0.043	0.43085	D	0.044	0.51112	D	0.599	0.43381	P	0.145	0.33871	B	0.000054	0.53742	D	0.192696	0.99983	0.49637	D	2.505	0.72935	M	2.35	0.16217	T	-3.16	0.64246	D	0.671	0.75009	-1.0546	0.13145	T	0.044	0.18906	T	10	0.027144462	0.00866	T	0.013807	0.33491	T	0.084	0.24469	.	.	0.143184338766	0.13958	0.49342463400652853	0.49263	0.794805195518	0.65999	0.616603016853	0.55248	T	0.260948	0.63238	T	-0.404899	0.02149	T	-0.359623	0.38096	T	0.109448015312001	0.13366	T	0.929907	0.74113	D	0.12452243	0.29214	0.16735107	0.38612	0.12452243	0.29213	0.16735107	0.38611	-11.88	0.85507	D	0.2572188792267808	0.34763	0.145	0.32079	B	.;.;.	.;.;.	4.114400	0.61453	24.3	0.99898217344371831	0.97048	0.97777	0.77057	D	AEFDGBI	0.479132	0.52141	N	0.204387172992479	0.51412	3.322598	0.259564860528895	0.53195	3.489701	0.999999908085391	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	7.096000	0.76614	8.722000	0.78164	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0:0.0:1.0:0.0	16.866	0.85895	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1874.83	34	chr10	29481636	.	G	A	1874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.19;DP=340;ExcessHet=0;FS=3.623;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.089;SOR=0.993	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1371	5	0	1	0
chr10	29526989	29526989	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_001323600:exon12:c.G1132A:p.V378I,SVIL:NM_021738:exon13:c.G2314A:p.V772I,SVIL:NM_001323599:exon14:c.G1384A:p.V462I	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0168846736178	.	0.000199681	5.401e-05	0	0	0	0	1.597e-05	0	0.0004	4.53e-05	7	154602	rs566419574	1.714e-05	1.71e-05	8.187e-06	2.619e-05	0.0003	1.177e-05	9.95e-06	8.946e-05	7.1e-05	0	0	0	0	0	0.0003	5.402e-06	6.642e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.006	0.61437	D	0.374	0.16280	T	0.199	0.29618	B	0.048	0.24975	B	0.059357	0.22331	N	0.489520	0.600539	0.81001	D	2.565	0.75005	M	0.97	0.42502	T	-0.19	0.09965	N	0.128	0.12198	-0.9890	0.32853	T	0.127	0.43277	T	9	0.05157572	0.05061	T	0.016885	0.38356	T	0.087	0.25287	0.169	0.07419	0.282416095408	0.27849	0.14913248129005288	0.14835	.	.	0.370236158371	0.20865	T	0.020469	0.16112	T	-0.389015	0.02730	T	-0.532141	0.19073	T	0.121978108312396	0.14622	T	0.731927	0.34732	T	0.0789661	0.18014	0.10551152	0.25365	0.0789661	0.18013	0.10551152	0.25364	-4.783	0.34392	T	.	.	0.088	0.11893	B	.	.	2.627239	0.34156	19.55	0.99707333306557111	0.81074	0.85897	0.45084	D	AEFDBI	0.266401	0.38333	N	-0.0855518311992184	0.38026	2.22091	0.0146459704729737	0.40394	2.409991	0.512671438352946	0.21031	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.57	3.69	0.41483	1.002000	0.29397	1.562000	0.27363	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.6492:0.3508:0.0	16.998	0.86246	965	0.07246	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1030.83	36	chr10	29526989	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=273;ExcessHet=0;FS=1.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.459;SOR=0.795	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1535	5	0	1	0
chr10	34269787	34269787	C	T	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon18:c.G2962A:p.G988R,PARD3:NM_001184789:exon20:c.G3049A:p.G1017R,PARD3:NM_001184790:exon20:c.G3028A:p.G1010R,PARD3:NM_001184786:exon21:c.G3250A:p.G1084R,PARD3:NM_001184787:exon21:c.G3187A:p.G1063R,PARD3:NM_001184788:exon21:c.G3160A:p.G1054R,PARD3:NM_001184785:exon22:c.G3289A:p.G1097R,PARD3:NM_019619:exon22:c.G3298A:p.G1100R	.	433	1053	36	0	0	36	0.0168067	.	.	.	3220270	PARD3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0041	0.00499201	0.0048	0.0048	0.0013	0.0001	0.0006	0.0024	0.0099	0.0207	0.0045666	706	154602	rs149455520	0.0042	0.0042	0.0037	0.0048	0.0197	0.0041	0.0041	0.0189	0.0186	0.0039	0.0010	0.0001	5.041e-05	0.0004	0.0121	0.0035	0.0046	0.0197	0.0034	0.0034	0.0032	0.0036	0.0224	0.0032	0.0031	0.0190	0.0177	0.0039	0	0.0011	0	0.0002	0.0002	0.0102	0.0033	0.0014	0.0224	0.595	0.12265	T	0.542	0.12491	T	1.0	0.90584	D	0.999	0.97372	D	0.001142	0.40056	N	0.286347	1	0.81001	D	2.045	0.56016	M	1.67	0.27331	T	-3.11	0.64478	D	0.651	0.67650	-0.9960	0.31028	T	0.109	0.39344	T	10	0.005013466	0.00108	T	.	.	.	0.237	0.54074	0.592	0.72123	0.751443546901	0.74919	0.2717819963719934	0.27091	0.127543965056	0.14372	0.573260247707	0.49138	T	0.369987	0.73460	T	-0.142057	0.29563	T	0.0387634	0.72847	D	0.024801978591173	0.01247	T	0.956704	0.85550	D	0.12195915	0.28668	0.12468187	0.30049	0.10710007	0.25324	0.12620677	0.30398	-4.731	0.33813	T	.	.	0.269	0.52508	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.029532	0.59574	24.1	0.99898630316621184	0.97124	0.93339	0.57952	D	AEFDBI	0.731083	0.67827	D	0.443375977022611	0.63827	4.624275	0.435122669991485	0.63768	4.617202	0.994567814164703	0.33696	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.78	4.88	0.63131	4.534000	0.60334	3.302000	0.37391	0.549000	0.26987	1.000000	0.71638	0.985000	0.30750	0.978000	0.57271	0.0:0.9325:0.0:0.0675	15.267	0.73371	893	0.26510	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.009511	0.008772	0.000000	0.008621	0.003049	0.022727	0.08333	1450.83	34	chr10	34269787	.	C	T	1450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.445;DP=313;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.918;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1187	5	0	1	0
chr10	35640315	35640315	-	CGCCCGGGCCGCCCG	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1114_1115insCGGGCGGCCCGGGCG:p.G371_G372insAGGPG	.	450	1061	9	2	0	13	0.00608899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.064e-05	5.884e-05	3.025e-05	3.106e-05	0.0002	2.185e-05	1.922e-05	5.917e-05	3.803e-05	0	0	6.434e-05	0	0	0	2.883e-05	2.384e-05	0.0002	0	6.598e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	306.79	33	chr10	35640315	.	C	CCGCCCGGGCCGCCCG	306.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=224;ExcessHet=0;FS=2.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.093;SOR=1.46	GT:AD:DP:GQ:PL	0/1:13,10:23:99:317,0,419	5	0	1	0
chr10	35640328	35640342	CCGCGCCCGCGCCCG	-	exonic	FZD8	.	nonframeshift deletion	FZD8:NM_031866:exon1:c.1088_1102del:p.A363_A367del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777191512	0.0005	0.0004	0.0005	0.0005	0.0010	0.0005	0.0005	0.0007	0.0005	0.0008	0	0.0001	0.0004	0	0	0.0005	0.0007	0.0010	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0005	0	0.0003	0	0.0006	0.0015	0	0.0011	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	511.8	34	chr10	35640327	.	CCCGCGCCCGCGCCCG	C	511.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.11;ReadPosRankSum=0.454;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:30:0,30,450	5	0	1	0
chr10	37219886	37219886	G	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.G4006C:p.A1336P	.	559	961	2	0	0	2	0.0010395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00229684252699	0.0002	0.000199681	0.0005	0	0.0003	0	0	0.0003	0	0.0019	0.0002135	33	154602	rs201764363	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	0.0003	4.499e-05	0	0	0.0011	0.0002	0.0002	0.0017	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	8.913e-05	0.0004	0.0003	4.903e-05	0	0.0003	0	0	0	0.0070	0.0001	0	0.0010	0.002	0.72154	D	0.007	0.72224	D	0.969	0.56768	D	0.651	0.52497	P	.	.	.	.	0.996661	0.22942	N	2.37	0.68279	M	2.31	0.16794	T	-4.03	0.74348	D	0.139	0.13769	-1.0654	0.10456	T	0.067	0.27434	T	9	0.017991722	0.00388	T	0.002297	0.04424	T	0.032	0.07718	.	.	0.115124310173	0.11017	0.0021689379279710447	0.00200	0.0546325042967	0.06044	0.697071671486	0.66722	T	0.058666	0.40608	T	-0.551628	0.00285	T	-0.605685	0.12339	T	0.246383265919249	0.22710	T	0.458654	0.13238	T	0.18570754	0.39946	0.3954661	0.64213	0.18570754	0.39946	0.3954661	0.64213	-5.438	0.41284	T	.	.	0.760	0.75495	P	.;.;.;.	.;.;.;.	1.533691	0.19678	14.38	0.9927950291438743	0.57869	0.13409	0.17839	N	AEFI	0.292720	0.40352	N	-0.288162678505378	0.29603	1.643201	-0.536621110524367	0.21161	1.143497	0.998259362674075	0.36648	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.65	1.72	0.23498	0.275000	0.18461	-0.629000	0.08134	0.319000	0.19345	0.081000	0.22364	0.000000	0.08366	0.118000	0.19084	0.1506:0.0:0.8494:0.0	6.898	0.23445	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004578	0.000000	0.002725	0.005882	0.000000	0.008621	0.003145	0.011450	0.08333	568.83	18	chr10	37219886	.	G	C	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.783;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.771;SOR=0.48	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	5	0	1	0
chr10	38118649	38118649	T	C	exonic	ZNF37A	.	nonsynonymous SNV	ZNF37A:NM_001178101:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324245:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324248:exon7:c.T1498C:p.C500R,ZNF37A:NM_001324249:exon7:c.T1498C:p.C500R,ZNF37A:NM_003421:exon7:c.T1498C:p.C500R,ZNF37A:NM_001007094:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324246:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324247:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324250:exon8:c.T1498C:p.C500R,ZNF37A:NM_001324251:exon8:c.T1498C:p.C500R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0122642170545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.932	0.66722	D	.	.	.	.	0.999	0.45307	D	4.505	0.98992	H	0.28	0.59037	T	-11.84	0.99564	D	0.616	0.67908	-0.2993	0.75004	T	0.394	0.74721	T	9	0.81698203	0.80929	D	0.012264	0.30673	T	0.342	0.66392	0.674	0.81200	0.765230945877	0.76308	0.1623753690396243	0.16157	0.296373391645	0.32023	0.734372496605	0.72146	T	0.484733	0.81192	T	0.159039	0.70112	D	-0.0093283	0.69728	D	0.998791038990021	0.95188	D	0.588241	0.21547	T	0.8706033	0.88909	0.79100853	0.87708	0.8706033	0.88911	0.79100853	0.87709	-11.804	0.83883	D	.	.	0.929	0.86225	P	.;.	.;.	3.688236	0.52538	23.2	0.99623808886880871	0.75594	0.00125	0.00780	N	AEFGBHCI	0.245706	0.36659	N	0.5468345307865	0.69888	5.421659	0.361858499962466	0.59225	4.098593	0.00202698501741518	0.09096	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	2.34	1.21	0.20240	3.552000	0.53452	4.137000	0.42065	0.604000	0.46097	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.1647:0.0:0.8353	5.235	0.14762	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	567.83	36	chr10	38118649	.	T	C	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.827;DP=242;ExcessHet=0;FS=3.613;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.506;SOR=0.354	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1084	5	0	1	0
chr10	43119599	43119599	A	G	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon11:c.A1699G:p.K567E,RET:NM_020630:exon14:c.A2461G:p.K821E,RET:NM_020975:exon14:c.A2461G:p.K821E	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	233787	Hereditary_cancer-predisposing_syndrome|Multiple_endocrine_neoplasia,_type_2|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.231341358346	.	.	8.952e-06	0	0	0	0	1.648e-05	0	0	6.5e-06	1	154602	rs749421642	4.109e-06	4.104e-06	5.451e-06	2.753e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.49613	D	0.096	0.39340	T	0.998	0.77913	D	0.989	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	-2.46	0.88924	D	-2.4	0.52776	N	0.754	0.77226	0.518	0.90793	D	0.694	0.89455	D	10	0.8548423	0.84676	D	0.231341	0.88271	D	0.661	0.87332	0.476	0.55342	0.927453779205	0.92671	0.806052344858762	0.80560	0.798016623358	0.66119	0.645067751408	0.59284	T	0.759417	0.93470	D	0.28566	0.81794	D	0.172555	0.81561	D	0.883037924766541	0.53318	D	0.89671	0.67517	D	0.78007454	0.82658	0.43577638	0.67053	0.78007454	0.82659	0.43577638	0.67053	-13.257	0.90393	D	0.6889786056512309	0.76642	0.441	0.61775	A	.;.	.;.	4.492685	0.70201	25.5	0.99790103893165871	0.87572	0.99043	0.90392	D	AEFDBI	0.934308	0.92749	D	0.447794120044196	0.64077	4.654427	0.441194699788883	0.64151	4.664081	0.999999999999322	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.36	5.36	0.76624	9.277000	0.94963	11.184000	0.88420	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	1.0:0.0:0.0:0.0	15.342	0.74018	856	0.34373	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1071.83	33	chr10	43119599	.	A	G	1071.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=275;ExcessHet=0;FS=4.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.892;SOR=1.211	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	5	0	1	0
chr10	44984908	44984908	G	A	exonic	RASSF4	.	nonsynonymous SNV	RASSF4:NM_032023:exon6:c.G469A:p.G157S	.	421	1088	11	2	0	15	0.00684619	.	.	.	712370	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00573114882904	0.0019	0.00159744	0.0030	0.0005	0.0011	0	0.0023	0.0042	0.0022	0.0033	0.002956	457	154602	rs140069760	0.0029	0.0029	0.0028	0.0029	0.0033	0.0028	0.0027	0.0030	0.0030	0.0004	0.0014	0.0019	0	0.0019	0.0024	0.0031	0.0026	0.0033	0.0021	0.0021	0.0023	0.0020	0.0035	0.0020	0.0019	0.0029	0.0028	0.0004	0	0.0031	0.0009	0	0.0014	0	0.0033	0.0028	0.0035	1.0	0.00964	T	0.999	0.02314	T	0.124	0.26825	B	0.019	0.18783	B	0.018290	0.27517	N	0.427611	1	0.08975	N	1.315	0.32790	L	0.87	0.46412	T	0.1	0.05810	N	0.155	0.16028	-1.0062	0.28095	T	0.067	0.27640	T	10	0.0036033094	0.00065	T	0.005731	0.14862	T	0.072	0.21020	.	.	0.374255764437	0.37033	0.26335478429010306	0.26248	0.125134286109	0.14108	0.33386734128	0.15517	T	6.2E-4	0.00264	T	-0.617337	0.00114	T	-0.660376	0.08241	T	0.00436487203907743	0.00047	T	0.718628	0.33152	T	0.022302946	0.00884	0.041942805	0.04884	0.022302946	0.00884	0.041942805	0.04884	-2.512	0.05864	T	.	.	0.071	0.03887	B	.	.	-0.049492	0.03954	0.884	0.52119848567604588	0.04688	0.21799	0.21528	N	AEFDBCI	0.129690	0.24796	N	-0.481832180092032	0.22676	1.212505	-0.560065600015734	0.20539	1.107025	0.999943485208637	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620204	0.46100	0	.	.	5.71	0.659	0.17033	0.230000	0.17632	-0.205000	0.10907	-0.108000	0.15293	0.070000	0.22072	0.000000	0.08366	0.024000	0.12247	0.3688:0.0:0.6312:0.0	9.316	0.37097	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.000000	0.005435	0.002941	0.050000	0.000000	0.006098	0.007634	0.08333	1396.83	102	chr10	44984908	.	G	A	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=285;ExcessHet=0;FS=7.704;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.124;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	5	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385276:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385282:exon3:c.G1139A:p.R380Q,GPRIN2:NM_014696:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385277:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385278:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385279:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385280:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385281:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385283:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385287:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385289:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385300:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385291:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385293:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385294:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385295:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385296:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385301:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385297:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385298:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385299:exon6:c.G1211A:p.R404Q	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2180.06	176	chr10	46549598	.	C	T	2180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.44;DP=1522;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.81;ReadPosRankSum=0.718;SOR=0.71	GT:AD:DP:GQ:PL	0/1:249,62:311:99:1109,0,6417	4	0	2	0
chr10	47368052	47368052	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G778A:p.A260T,ZNF488:NM_001346933:exon3:c.G778A:p.A260T,ZNF488:NM_001346934:exon3:c.G778A:p.A260T,ZNF488:NM_001346935:exon3:c.G778A:p.A260T,ZNF488:NM_001346936:exon3:c.G778A:p.A260T,ZNF488:NM_001346932:exon4:c.G778A:p.A260T	.	406	1110	5	1	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00496418583911	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199586477	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0003	0.0053	0.0051	0	0.0001	0.0008	0.0059	1.874e-05	0.0005	0.0001	0.0006	0.0003	0.0004	0.0004	0.0004	0.0004	0.0064	0.0003	0.0003	0.0047	0.0041	0	0	0.0003	0.0012	0.0064	0	0	0.0002	0.0005	0	.	.	.	0.626	0.07292	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.29	0.25018	T	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.024443477	0.00672	T	.	.	.	.	.	.	.	.	.	0.6311878731829843	0.63052	.	.	.	.	.	0.003922	0.03333	T	.	.	.	.	.	.	.	.	.	0.585741	0.23716	T	.	.	.	.	.	.	.	.	-5.117	0.38086	T	.	.	0.112	0.21803	B	.;.	.;.	1.114283	0.14994	11.50	.	.	.	.	.	.	0.108210	0.21534	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.084000	0.41249	0.972000	0.23065	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.325000	0.25087	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1200.83	33	chr10	47368052	.	C	T	1200.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.677;DP=273;ExcessHet=0;FS=2.662;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.08;SOR=0.431	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1264	5	0	1	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1384.92	.	chr10	47474331	.	G	A	1384.92	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.094;DP=361;ExcessHet=1.7609;FS=2.314;MLEAC=3;MLEAF=0.3;MQ=48.98;MQRankSum=-0.459;QD=4.79;ReadPosRankSum=-0.096;SOR=0.533	GT:AD:DP:GQ:PL	0/1:63,29:92:99:545,0,1593	2	0	3	1
chr10	47761593	47761595	CAG	-	exonic	LOC102724488;SYT15	.	nonframeshift deletion	LOC102724488:NM_001370183:exon2:c.58_60del:p.L21del,LOC102724488:NM_001370184:exon2:c.58_60del:p.L21del,SYT15:NM_031912:exon2:c.58_60del:p.L21del,SYT15:NM_181519:exon2:c.58_60del:p.L21del	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309361127	0.0005	0.0028	0.0005	0.0005	0.0008	0.0005	0.0004	0.0005	0.0005	0.0003	0.0006	0.0004	0.0005	0.0005	0.0008	0.0005	0.0003	0.0004	2.077e-05	5.947e-05	4.022e-05	0	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.931e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	85.03	10	chr10	47761592	.	ACAG	A	85.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.707;DP=137;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=36.05;MQRankSum=1.33;QD=2.02;ReadPosRankSum=-1.289;SOR=0.865	GT:AD:DP:GQ:PL	0/1:27,3:30:45:45,0,1125	4	0	2	0
chr10	47922539	47922539	C	-	exonic	NPY4R;NPY4R2	.	frameshift deletion	NPY4R:NM_001278794:exon2:c.552delC:p.H185Tfs*76,NPY4R2:NM_001278795:exon2:c.552delC:p.H185Tfs*76	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs557565719	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0024	0.0023	0	3.154e-05	0	0	8.057e-05	0.0002	5.465e-05	0.0003	0.0028	4.893e-05	0.0001	3.135e-05	6.8e-05	0.0011	2.056e-05	1.453e-05	0.0003	0.0002	0	0	8.879e-05	0	0	0	0	3.517e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	787.79	36	chr10	47922538	.	TC	T	787.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.643;DP=256;ExcessHet=0;FS=5.373;MLEAC=1;MLEAF=0.083;MQ=26.93;MQRankSum=-1.248;QD=11.1;ReadPosRankSum=0.053;SOR=2.538	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1463	5	0	1	0
chr10	48178141	48178141	G	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon20:c.C2726A:p.S909Y,FRMPD2:NM_001018071:exon22:c.C2801A:p.S934Y	.	568	948	5	1	0	7	0.0036784	.	.	.	2813132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	.	.	0.00199681	0.0046	0.0007	0	0	0	0.0021	0.0088	0.0138	0.000718	111	154602	rs200783524	0.0011	0.0011	0.0008	0.0015	0.0103	0.0011	0.0011	0.0097	0.0095	3.185e-05	0.0008	0.0022	0	3.757e-05	0.0068	0.0005	0.0014	0.0103	0.0007	0.0007	0.0006	0.0009	0.0093	0.0006	0.0006	0.0072	0.0064	9.624e-05	0	0.0005	0.0017	0	0.0002	0	0.0007	0.0009	0.0093	0.002	0.72154	D	0.011	0.64786	D	0.329	0.60381	B	0.113	0.62049	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-0.13	0.65563	T	-2.83	0.59710	D	0.164	0.21056	-0.8446	0.52338	T	0.251	0.62027	T	9	0.009323031	0.00210	T	.	.	.	0.127	0.34888	.	.	0.664214759011	0.66139	0.14523352961555983	0.14446	3.07987304828	0.99351	0.35022342205	0.17954	T	0.039259	0.25126	T	-0.442361	0.01252	T	-0.402225	0.33126	T	0.0977232013084954	0.12105	T	0.745225	0.36553	T	0.19281517	0.40965	0.3215864	0.58105	0.19281517	0.40965	0.3215864	0.58104	-6.143	0.47809	T	.	.	0.104	0.18991	B	.;.;.	.;.;.	2.291806	0.29312	18.08	0.98535525230957965	0.42645	0.87770	0.47423	D	AEFI	0.155001	0.28013	N	-0.0644029191579769	0.38962	2.290102	-0.126572235034357	0.34322	1.973024	0.0160344420109532	0.12784	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.72	3.82	0.43153	2.761000	0.47270	2.142000	0.30851	0.652000	0.53365	0.996000	0.39380	0.989000	0.31174	0.069000	0.16583	0.0915:0.0:0.9085:0.0	10.217	0.42350	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	0	0	1	0	0.005597	0.000000	0.001458	0.009259	0.000000	0.009434	0.000000	0.026549	0.08333	1422.83	35	chr10	48178141	.	G	T	1422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.603;DP=276;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.083;MQ=47.77;MQRankSum=-4.073;QD=14.37;ReadPosRankSum=-0.657;SOR=1.054	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1433,0,1023	5	0	1	0
chr10	48180805	48180805	T	C	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon19:c.A2713G:p.K905E,FRMPD2:NM_001018071:exon21:c.A2788G:p.K930E	.	.	.	.	.	.	.	.	0.0012	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0161201384846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.08559	T	0.228	0.25286	T	0.002	0.12183	B	0.003	0.15521	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	0.01	0.63077	T	-1.14	0.29323	N	0.126	0.11912	-1.0300	0.20454	T	0.110	0.39556	T	9	0.07231936	0.10778	T	0.01612	0.37217	T	0.033	0.08068	0.365	0.37199	0.234412748748	0.23057	0.1022840279713947	0.10158	2.20439237927	0.95697	0.378929287195	0.22105	T	0.01535	0.12895	T	-0.188081	0.22540	T	-0.507942	0.21528	T	0.0393599602170296	0.03575	T	0.605339	0.22755	T	0.077968806	0.17729	0.05513423	0.09615	0.077968806	0.17729	0.05513423	0.09614	-2.182	0.03954	T	.	.	0.089	0.12371	B	.;.;.	.;.;.	1.006500	0.13851	10.41	0.75917948614446429	0.11262	0.09844	0.15507	N	AEFI	0.047265	0.07940	N	-1.08764691597466	0.06870	0.3174883	-1.06534538080336	0.08389	0.4123263	3.23551154094007E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.53	0.428	0.15714	0.525000	0.22664	0.255000	0.16475	-0.173000	0.11020	0.517000	0.27088	0.085000	0.22446	0.017000	0.10941	0.0:0.3219:0.2361:0.442	3.018	0.05700	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	.	.	.	.	.	.	.	.	0.1667	309.06	22	chr10	48180805	.	T	C	309.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.409;DP=101;ExcessHet=0.4139;FS=3.166;MLEAC=2;MLEAF=0.167;MQ=26.69;MQRankSum=0;QD=9.37;ReadPosRankSum=1.32;SOR=1.473	GT:AD:DP:GQ:PL	0/1:5,5:10:99:129,0,128	4	0	2	0
chr10	48222396	48222396	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon10:c.G1300A:p.E434K,FRMPD2:NM_001018071:exon12:c.G1372A:p.E458K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.118171961024	.	.	3.296e-05	0	0	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs778076413	2.531e-05	2.531e-05	2.314e-05	2.75e-05	0.0002	1.868e-05	1.631e-05	2.116e-05	1.862e-05	0	2.236e-05	0	0	0	0.0002	2.968e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-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	0.004	0.65419	D	0.013	0.63109	D	0.998	0.90584	D	0.975	0.86255	D	.	.	.	.	0.999835	0.49637	D	2.9	0.83903	M	-1.45	0.80899	T	-3.48	0.67941	D	0.457	0.49420	0.432	0.89567	D	0.699	0.89638	D	9	0.78812003	0.78423	D	0.118172	0.79815	D	0.628	0.85666	0.667	0.80502	0.800665467327	0.79880	0.24014651499322753	0.23928	0.184650743145	0.20765	0.518602490425	0.41429	T	0.158519	0.76438	T	-0.036206	0.46511	T	-0.133418	0.60684	T	0.869253814220428	0.51919	D	0.916508	0.73422	D	0.68051803	0.76997	0.57251567	0.75241	0.68051803	0.76998	0.57251567	0.75242	-10.844	0.78795	D	.	.	0.220	0.45421	B	.;.;.	.;.;.	3.690753	0.52580	23.3	0.99929113575003592	0.99279	0.96035	0.67239	D	AEFBI	0.632121	0.61285	D	0.749275929121456	0.82858	7.86769	0.697935293545699	0.82223	7.713904	0.999999999857044	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.394000	0.59433	4.251000	0.42758	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	16.658	0.85091	976	0.04745	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2224.06	36	chr10	48222396	.	C	T	2224.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.213;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.575;SOR=0.711	GT:AD:DP:GQ:PL	0/1:70,40:110:99:897,0,1928	4	0	2	0
chr10	48913629	48913629	C	T	exonic	LRRC18	.	nonsynonymous SNV	LRRC18:NM_001006939:exon2:c.G527A:p.R176Q,LRRC18:NM_001378102:exon3:c.G527A:p.R176Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0118631937382	.	0.000599042	0.0004	0	8.658e-05	0.0001	0	0	0.0022	0.0025	0.0003234	50	154602	rs540331593	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	6.708e-05	0	5.039e-05	0	0.0002	1.978e-05	0.0001	0.0027	7.891e-05	7.876e-05	6.432e-05	9.417e-05	0.0015	4.5e-05	3.515e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	5.885e-05	0	0.0015	0.341	0.12673	T	0.398	0.15109	T	1.0	0.90584	D	0.945	0.68163	D	0.000020	0.62929	D	0.118758	0.977552	0.81001	D	2.08	0.57402	M	2.33	0.16492	T	-0.61	0.18042	N	0.625	0.63968	-1.1354	0.01540	T	0.103	0.38069	T	9	0.029103428	0.01038	T	0.011863	0.29900	T	0.108	0.30607	.	.	0.641048165634	0.63808	0.616870018483207	0.61619	0.0171494012742	0.01662	0.458612561226	0.33120	T	0.01188	0.10530	T	-0.391997	0.02611	T	-0.339218	0.40433	T	0.0952814518986346	0.11830	T	0.90371	0.66210	D	0.12042565	0.28338	0.1085676	0.26153	0.12042565	0.28338	0.1085676	0.26152	-4.109	0.25423	T	.	.	0.246	0.48082	B	.	.	4.720502	0.75923	26.4	0.99944233548476769	0.99868	0.89427	0.49885	D	AEFDBI	0.687839	0.64904	D	0.484484762579958	0.66183	4.917389	0.43933369508021	0.64034	4.649709	0.99983365386671	0.43792	0.497415	0.19182	0	0.446627	0.06534	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	6.026000	0.70520	5.990000	0.52315	0.599000	0.40250	0.794000	0.29644	0.901000	0.27973	0.872000	0.41544	0.0:1.0:0.0:0.0	19.986	0.97352	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	2290.83	188	chr10	48913629	.	C	T	2290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=437;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.522;SOR=0.715	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	5	0	1	0
chr10	49107954	49107954	C	T	exonic	VSTM4	.	nonsynonymous SNV	VSTM4:NM_001031746:exon2:c.G97A:p.V33M,VSTM4:NM_144984:exon2:c.G97A:p.V33M	.	429	1080	13	0	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0131571431453	0.0011	0.000599042	0.0015	0.0003	0.0004	0	0	0.0019	0.0037	0.0020	0.0010026	155	154602	rs148517338	0.0012	0.0012	0.0012	0.0013	0.0059	0.0012	0.0012	0.0044	0.0038	9.037e-05	0.0006	3.866e-05	2.539e-05	3.79e-05	0.0059	0.0013	0.0016	0.0023	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0004	0.0006	0	0	0.0102	0.0015	0.0014	0.0008	0.019	0.53900	D	0.235	0.50226	T	0.999	0.77913	D	0.921	0.66815	D	0.076635	0.21151	N	0.530532	0.996761	0.22909	N	2.175	0.60977	M	-0.22	0.66474	T	-0.61	0.20791	N	0.165	0.23253	-0.7047	0.60212	T	0.319	0.68813	T	10	0.02429533	0.00663	T	0.013157	0.32344	T	0.143	0.38195	.	.	0.677134000145	0.67439	0.5292290068773372	0.52846	0.355680316561	0.37321	0.651309609413	0.60171	T	0.074755	0.35016	T	-0.363331	0.03946	T	-0.307906	0.43882	T	0.0307017693348963	0.02099	T	0.865313	0.57103	D	0.063840926	0.13485	0.07126395	0.15241	0.063840926	0.13484	0.07126395	0.15241	-6.062	0.49899	T	.	.	0.145	0.42706	B	.;.	.;.	4.443698	0.69020	25.3	0.99865748413306032	0.94366	0.26880	0.23119	N	AEFDBI	0.144660	0.26768	N	0.476844006853985	0.65742	4.860716	0.449637236952505	0.64694	4.730462	0.999994314011266	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	5.83	3.96	0.45097	1.237000	0.32298	2.637000	0.33729	0.599000	0.40250	0.643000	0.28111	0.993000	0.31925	0.980000	0.58198	0.21:0.6138:0.0:0.1762	4.244	0.10117	.	.	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	1173.83	40	chr10	49107954	.	C	T	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.39;DP=261;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.128;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	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	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046078	0.069149	0.032787	0.079832	0.000000	0.023810	0.015957	0.000000	0.08333	1035.83	39	chr10	49132145	.	C	T	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.931;DP=392;ExcessHet=0;FS=2.639;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.079;SOR=0.556	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr10	49664976	49664976	C	T	exonic	CHAT	.	nonsynonymous SNV	CHAT:NM_001142929:exon15:c.C1823T:p.P608L,CHAT:NM_020549:exon15:c.C2177T:p.P726L,CHAT:NM_020984:exon15:c.C1823T:p.P608L,CHAT:NM_020986:exon15:c.C1823T:p.P608L,CHAT:NM_001142933:exon16:c.C1931T:p.P644L,CHAT:NM_001142934:exon16:c.C1823T:p.P608L,CHAT:NM_020985:exon16:c.C1823T:p.P608L	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	359962	not_specified|Familial_infantile_myasthenia|not_provided|CHAT-related_disorder	MedGen:CN169374|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0471522918698	0.0012	0.000199681	0.0011	0	0.0002	0	0.0018	0.0017	0.0011	0.0008	0.0010673	165	154602	rs79414242	0.0011	0.0011	0.0011	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0002	0.0001	3.826e-05	0	0.0026	0.0003	0.0012	0.0008	0.0011	0.0012	0.0012	0.0012	0.0013	0.0022	0.0011	0.0010	0.0019	0.0018	9.622e-05	0	0.0001	0	0	0.0026	0	0.0022	0	0.0008	0.102	0.33585	T	0.328	0.25748	T	0.001	0.07471	B	0.0	0.01387	B	0.740211	0.06423	N	1.148380	1	0.08975	N	1.125	0.28843	L	-1.84	0.84341	D	-1.45	0.35597	N	0.116	0.10911	-0.7959	0.55386	T	0.322	0.69134	T	10	0.01008305	0.00226	T	0.047152	0.62792	D	0.187	0.46274	.	.	0.569101917167	0.56574	0.17111539016934874	0.17031	0.250849104377	0.27660	0.206684947014	0.00678	T	0.170957	0.51890	T	-0.482588	0.00714	T	-0.463369	0.26232	T	0.00713084886484166	0.00081	T	0.486851	0.14885	T	0.06914246	0.15124	0.04629967	0.06424	0.06914246	0.15124	0.04629967	0.06423	-4.761	0.34204	T	.	.	0.078	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.380193	0.02287	0.239	0.48274080512602852	0.04015	0.06859	0.12885	N	AEFDBI	0.129688	0.24796	N	-1.63793166826999	0.01087	0.04717315	-1.7257651848285	0.01028	0.04611638	0.994428037075145	0.33631	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.76	-8.55	0.00790	-0.668000	0.05369	-0.289000	0.10208	-0.818000	0.02990	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1879:0.5807:0.0604:0.171	7.912	0.28960	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	772.83	35	chr10	49664976	.	C	T	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=215;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-1.219;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	5	0	1	0
chr10	49736463	49736463	T	C	exonic	OGDHL	.	nonsynonymous SNV	OGDHL:NM_001143997:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347822:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347826:exon19:c.A1451G:p.Q484R,OGDHL:NM_001143996:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347820:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347823:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347824:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347825:exon20:c.A1841G:p.Q614R,OGDHL:NM_001347819:exon21:c.A2648G:p.Q883R,OGDHL:NM_001347821:exon21:c.A2021G:p.Q674R,OGDHL:NM_018245:exon21:c.A2648G:p.Q883R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00373269116483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.16358	T	0.33	0.40267	T	0.0	0.02946	B	0.001	0.04355	B	0.326887	0.14179	N	0.698644	0.998995	0.21728	N	0.685	0.16464	N	2.78	0.11298	T	-0.5	0.18459	N	0.106	0.15046	-1.0045	0.28607	T	0.019	0.07939	T	10	0.11417061	0.21471	T	0.003733	0.08651	T	0.026	0.05648	0.281	0.23642	0.208000267992	0.20380	0.2770201536059743	0.27615	0.185854131292	0.20895	0.290280103683	0.08963	T	0.053186	0.29372	T	-0.358848	0.04196	T	-0.753237	0.03361	T	0.0342284627258778	0.02677	T	0.610139	0.23115	T	0.031741295	0.03068	0.052892625	0.08804	0.031741295	0.03068	0.052892625	0.08803	-4.973	0.36546	T	0.13837735020709144	0.15304	0.067	0.05447	B	.;.;.	.;.;.	1.032334	0.14123	10.70	0.9697200034651513	0.31823	0.26528	0.23019	N	AEFBI	0.434378	0.49545	N	-0.689422521119008	0.16322	0.8305401	-0.631270712745617	0.18691	0.9996402	0.0128875739528943	0.12388	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.4	2.96	0.33383	1.057000	0.30102	-0.034000	0.12756	-0.162000	0.11565	0.017000	0.19353	0.000000	0.08366	0.142000	0.20019	0.0:0.1429:0.1321:0.7251	6.281	0.20215	900	0.24599	Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1786.06	34	chr10	49736463	.	T	C	1786.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.46;DP=293;ExcessHet=0.4139;FS=2.064;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.099;SOR=0.925	GT:AD:DP:GQ:PL	0/1:38,37:75:99:920,0,805	4	0	2	0
chr10	49922612	49922612	A	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon2:c.T271A:p.L91M,PARG:NM_001303487:exon4:c.T1189A:p.L397M,PARG:NM_001303486:exon5:c.T1267A:p.L423M,PARG:NM_001324381:exon5:c.T1267A:p.L423M,PARG:NM_003631:exon5:c.T1513A:p.L505M	.	593	925	4	0	0	4	0.0021575	.	.	.	2754408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0009	0	0.0017	0	0	0.0017	0	0	0.0001746	27	154602	rs201117929	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0006	0.0004	6.034e-05	0.0005	0	0	1.884e-05	0.0015	0.0004	0.0003	0.0002	0.0004	0.0004	0.0004	0.0004	0.0022	0.0003	0.0003	0.0016	0.0014	2.408e-05	0	0.0022	0	0	0	0	0.0004	0.0005	0.0002	.	.	.	0.242	0.24264	T	0.196	0.29532	B	0.059	0.26602	B	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.404	0.44474	-1.0188	0.24106	T	0.064	0.26527	T	7	0.025242984	0.00724	T	.	.	.	0.014	0.01968	.	.	0.159798565429	0.15598	0.26729204698247305	0.26642	.	.	0.588613033295	0.51297	T	0.088106	0.38088	T	-0.430162	0.01479	T	-0.436226	0.29231	T	0.0106662866516637	0.00150	T	0.79842	0.44325	T	0.24406368	0.47351	0.16158523	0.37578	0.24406368	0.47351	0.16158523	0.37577	-3.583	0.17611	T	.	.	0.075	0.05317	B	.;.	.;.	1.689516	0.21528	15.24	0.8667069684090114	0.16693	0.05087	0.10884	N	AEFI	0.056975	0.10577	N	-0.799763531117829	0.13316	0.6551415	-0.815225733678744	0.14127	0.7365287	9.40715613147506E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	2.52	-0.335	0.12034	0.373000	0.20215	0.408000	0.18078	0.684000	0.82519	0.876000	0.30908	0.416000	0.24783	0.997000	0.79791	0.6712:0.0:0.1301:0.1988	3.404	0.06909	880	0.29376	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001250	0.000000	0.002755	0.000000	0.000000	0.000000	0.004032	0.000000	0.08333	1350.83	33	chr10	49922612	.	A	T	1350.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.51;MQRankSum=-3.838;QD=15.35;ReadPosRankSum=-2.512;SOR=0.634	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1361,0,912	5	0	1	0
chr10	50008871	50008871	G	A	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.G746A:p.R249H,AGAP6:NM_001365867:exon9:c.G143A:p.R48H	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00222634385047	.	0.00339457	0.0044	0.0024	0.0023	0	0	0.0056	0.0125	0.0016	0.0023821	62	26028	rs199714140	0.0098	0.0098	0.0100	0.0096	0.0114	0.0096	0.0096	0.0112	0.0111	0.0025	0.0053	0.0082	5.038e-05	0.0034	0.0104	0.0114	0.0111	0.0022	0.0068	0.0068	0.0076	0.0061	0.0113	0.0065	0.0063	0.0106	0.0104	0.0018	0.0022	0.0069	0.0095	0	0.0023	0.0204	0.0113	0.0076	0.0019	.	.	.	0.012	0.64786	D	.	.	.	.	.	.	0.000008	0.62929	D	0.065932	0.998981	0.45816	D	2.35	0.67516	M	0.82	0.48142	T	.	.	.	0.312	0.39052	-0.9181	0.45811	T	0.150	0.47717	T	9	0.007137418	0.00162	T	.	.	.	0.213	0.50496	.	.	0.0920862733494	0.08535	.	.	.	.	0.594592154026	0.52142	T	0.077196	0.35598	T	-0.457951	0.01012	T	-0.422629	0.30773	T	0.0407494602318906	0.03827	T	0.822518	0.48242	T	0.18602437	0.39993	0.14255284	0.33908	0.18602437	0.39992	0.14255284	0.33907	-7.195	0.55445	T	.	.	0.076	0.11269	B	.;.;.	.;.;.	2.658884	0.34638	19.68	0.976261156641404	0.34995	0.74637	0.36517	D	AEFI	0.269645	0.38588	N	-0.237278780984904	0.31613	1.774474	-0.462322529874321	0.23200	1.263978	4.72246728139069E-4	0.07095	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	4.920000	0.63089	-0.392000	0.09469	0.135000	0.17665	1.000000	0.71638	0.000000	0.08366	0.173000	0.21076	7.0E-4:0.0:0.9993:0.0	5.925	0.18342	715	0.56137	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005095	0.024390	0.006122	0.005155	0.000000	0.000000	0.008264	0.000000	0.08333	3910.83	33	chr10	50008871	.	G	A	3910.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.844;DP=475;ExcessHet=0;FS=10.409;MLEAC=1;MLEAF=0.083;MQ=40.24;MQRankSum=-1.775;QD=14.17;ReadPosRankSum=1.2;SOR=0.468	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1329	5	0	1	0
chr10	50095686	50095686	-	CC	exonic	WASHC2A	.	frameshift insertion	WASHC2A:NM_001005751:exon15:c.1328_1329insCC:p.G444Lfs*54,WASHC2A:NM_001291398:exon15:c.1328_1329insCC:p.G444Lfs*54,WASHC2A:NM_001330102:exon15:c.1328_1329insCC:p.G444Lfs*54	.	523	986	13	0	0	13	0.00654912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	.	.	.	.	0.0018	0.0021	0.0017	0.0020	0.0080	0.0018	0.0018	0.0059	0.0051	0.0004	0.0010	0.0016	7.557e-05	0.0013	0.0080	0.0017	0.0022	0.0055	0.0022	0.0022	0.0020	0.0024	0.0094	0.0020	0.0019	0.0072	0.0065	0.0007	0	0.0016	0.0020	0	0.0010	0.0170	0.0030	0.0029	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1506.79	59	chr10	50095686	.	A	ACC	1506.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.326;DP=375;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.31;MQRankSum=-2.998;QD=19.07;ReadPosRankSum=0.593;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	1	0
chr10	50095688	50095689	GG	-	exonic	WASHC2A	.	frameshift deletion	WASHC2A:NM_001005751:exon15:c.1330_1331del:p.G444Sfs*8,WASHC2A:NM_001291398:exon15:c.1330_1331del:p.G444Sfs*8,WASHC2A:NM_001330102:exon15:c.1330_1331del:p.G444Sfs*8	.	523	986	13	0	0	13	0.00654912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	4.53e-05	7	154602	.	0.0016	0.0021	0.0015	0.0018	0.0073	0.0016	0.0016	0.0053	0.0046	0.0003	0.0010	0.0014	7.557e-05	0.0012	0.0073	0.0015	0.0019	0.0051	0.0022	0.0022	0.0020	0.0024	0.0094	0.0020	0.0019	0.0072	0.0064	0.0007	0	0.0016	0.0020	0	0.0010	0.0170	0.0030	0.0028	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1503.79	59	chr10	50095687	.	TGG	T	1503.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=52.45;MQRankSum=-3.089;QD=18.8;ReadPosRankSum=0.751;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	1	0
chr10	50095689	50095689	G	0	exonic	WASHC2A	.	.	.	.	566	659	223	63	11	360	0.209358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	10308.3	107	chr10	50095689	.	G	*	10308.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.434;DP=487;ExcessHet=0.095;FS=0.402;MLEAC=1;MLEAF=0.083;MQ=52.08;MQRankSum=-0.435;QD=25.77;ReadPosRankSum=0.555;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:52,0:121:99:0|1:50095689_G_A:2735,2892,5075:50095689	5	0	1	0
chr10	50095704	50095704	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon15:c.G1346T:p.G449V,WASHC2A:NM_001291398:exon15:c.G1346T:p.G449V,WASHC2A:NM_001330102:exon15:c.G1346T:p.G449V	.	527	991	3	1	0	5	0.00251636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00613673869432	.	.	0.0004	0	0	0	0	0.0005	0	0.0004	.	.	.	rs1202720470	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0006	0.0004	2.994e-05	0.0005	0	0	0	0.0015	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0013	0.0011	2.424e-05	0	0.0018	0	0	0	0	0.0003	0.0005	0.0002	0.047	0.91255	D	0.079	0.42261	T	1.0	0.90584	D	0.995	0.83170	D	0.000342	0.45440	N	0.253801	1	0.81001	D	.	.	.	.	.	.	-6.17	0.91912	D	0.155	0.27316	-0.4190	0.71425	T	0.384	0.74017	T	9	0.1906895	0.34723	T	0.033201	0.54812	D	0.272	0.58758	0.354	0.35408	0.200294437569	0.19612	0.14867576493207726	0.14789	.	.	0.488423466682	0.37220	T	0.127893	0.45520	T	0.18333	0.72349	D	0.0255641	0.71991	D	0.989433348178864	0.79671	D	0.844715	0.57669	T	0.54769635	0.69827	0.4239002	0.66246	0.54769635	0.69828	0.4239002	0.66246	-10.103	0.74526	D	.	.	0.186	0.40213	B	.;.;.;.;.	.;.;.;.;.	2.422875	0.31160	18.66	0.99625670414876222	0.75716	0.78917	0.39011	D	AEFI	0.248857	0.36919	N	0.321862146874064	0.57272	3.893949	0.253877419763727	0.52869	3.459023	0.00320722510001098	0.09989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.74	4.74	0.59717	2.351000	0.43727	5.050000	0.46989	0.461000	0.21595	0.984000	0.35821	1.000000	0.68203	0.317000	0.24900	0.0:0.0:1.0:0.0	13.264	0.59556	741	0.52966	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001456	0.000000	0.003125	0.000000	0.000000	0.000000	0.005000	0.000000	0.08333	2616.83	39	chr10	50095704	.	G	T	2616.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.385;DP=313;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=52.28;MQRankSum=-1.391;QD=21.99;ReadPosRankSum=-0.702;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,68:119:99:0|1:50095689_G_A:2627,0,1924:50095689	5	0	1	0
chr10	50104141	50104141	G	T	exonic	WASHC2A	.	stopgain	WASHC2A:NM_001005751:exon18:c.G1735T:p.E579X,WASHC2A:NM_001291398:exon18:c.G1735T:p.E579X,WASHC2A:NM_001330102:exon18:c.G1735T:p.E579X	.	.	.	.	.	.	.	.	0.0325	0.306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.92e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000196	0.48115	D	0.177367	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516028	0.94769	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;.	.;.;.;High;.	9.267290	0.98698	40	0.9970933219154513	0.81213	0.81583	0.40957	D	AEFI	0.377897	0.46149	N	0.533718965370225	0.69097	5.308889	0.258097754249554	0.53111	3.481751	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	196.6	67	chr10	50104141	.	G	T	196.6	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.749;DP=334;ExcessHet=3.1439;FS=273.532;MLEAC=1;MLEAF=0.125;MQ=56.78;MQRankSum=0.544;QD=0.83;ReadPosRankSum=0.267;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:40,0:40:0:.:.:0,0,619:.	3	0	1	2
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	142.59	67	chr10	50104143	.	G	C	142.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.847;DP=298;ExcessHet=1.383;FS=152.023;MLEAC=1;MLEAF=0.167;MQ=56.82;MQRankSum=-0.632;QD=0.89;ReadPosRankSum=0.198;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,556:.	2	0	1	3
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	135.59	66	chr10	50104144	.	G	C	135.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.822;DP=299;ExcessHet=1.383;FS=148.216;MLEAC=1;MLEAF=0.167;MQ=56.55;MQRankSum=-0.632;QD=0.85;ReadPosRankSum=0.155;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,556:.	2	0	1	3
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	135.59	66	chr10	50104144	.	G	A	135.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.822;DP=299;ExcessHet=1.383;FS=148.216;MLEAC=3;MLEAF=0.5;MQ=56.55;MQRankSum=-0.632;QD=0.85;ReadPosRankSum=0.155;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,556:.	1	0	2	3
chr10	52315038	52315038	G	T	exonic	DKK1	.	nonsynonymous SNV	DKK1:NM_012242:exon2:c.G359T:p.R120L	.	433	1065	23	1	0	25	0.0116009	.	.	.	3203121	DKK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.628	0.112200472305	0.0031	0.00179712	0.0030	0.0008	0.0014	0	0.0026	0.0045	0.0012	0.0016	0.0030336	469	154602	rs149268042	0.0032	0.0032	0.0032	0.0032	0.0065	0.0031	0.0031	0.0048	0.0043	0.0007	0.0020	0.0019	0	0.0026	0.0065	0.0037	0.0035	0.0009	0.0027	0.0026	0.0026	0.0027	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0028	0.0017	0	0.0018	0.0068	0.0044	0.0009	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.31	0.58613	T	-6.24	0.90530	D	0.869	0.86618	-0.2844	0.75420	T	0.356	0.71850	T	10	0.03161475	0.01298	T	0.112	0.79025	D	0.628	0.85666	.	.	0.845139130204	0.84365	0.8551742031728298	0.85480	1.46418215405	0.86425	0.691517591476	0.65924	T	0.884067	0.97593	D	-0.00284609	0.51263	T	0.223539	0.84353	D	0.0377790005916916	0.03294	T	0.940906	0.77861	D	0.865348	0.88496	0.91031516	0.95710	0.865348	0.88498	0.91031516	0.95711	-10.175	0.74953	D	.	.	0.890	0.82124	P	.	.	5.769340	0.93470	33	0.9985394765256036	0.93279	0.98452	0.82924	D	ALL	0.928434	0.91264	D	0.930171634963395	0.93158	11.85783	0.905322837866325	0.95801	13.98185	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.273489	0.05413	2	.	.	5.63	5.63	0.86108	9.493000	0.96944	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.269	0.93989	871	0.31377	Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.000000	0.002717	0.000000	0.000000	0.008621	0.024390	0.000000	0.08333	757.83	56	chr10	52315038	.	G	T	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.315;SOR=0.573	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,104,1370	5	0	1	0
chr10	60084743	60084743	C	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon10:c.G1335A:p.M445I,ANK3:NM_001320874:exon32:c.G3933A:p.M1311I,ANK3:NM_020987:exon32:c.G3933A:p.M1311I,ANK3:NM_001204403:exon33:c.G3915A:p.M1305I,ANK3:NM_001204404:exon33:c.G3936A:p.M1312I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0117073885359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.09	0.72224	T	0.524	0.37583	P	0.095	0.30245	B	0.000096	0.51296	D	0.000000	1	0.81001	D	1.73	0.44655	L	1.54	0.30133	T	-3.47	0.67824	D	0.876	0.87373	-1.0530	0.13574	T	0.114	0.40536	T	10	0.42482513	0.57104	T	0.011707	0.29605	T	0.375	0.69358	0.509	0.60540	0.6846367038	0.68194	0.6755682541630594	0.67494	0.345293510897	0.36438	0.817125320435	0.84587	D	0.800802	0.94919	D	0.154675	0.69705	D	-0.0155963	0.69318	D	0.986304223537445	0.77057	D	0.975402	0.91282	D	0.25492194	0.48523	0.30202013	0.56234	0.25492194	0.48523	0.30202013	0.56234	-10.165	0.77913	D	0.6421463896036133	0.71302	0.963	0.88414	P	.;.;.;.	.;.;.;.	4.041217	0.59833	24.1	0.99272175769788307	0.57593	0.98297	0.81376	D	AEFGBI	0.926981	0.90893	D	0.43198136910289	0.63188	4.547875	0.572379252509277	0.72967	5.894011	0.999999999996405	0.74766	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.04	6.04	0.98025	7.905000	0.86479	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.579	0.99382	742	0.52873	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1529.83	33	chr10	60084743	.	C	T	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.933;DP=331;ExcessHet=0;FS=3.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.209;SOR=0.968	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	5	0	1	0
chr10	60139080	60139080	A	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon2:c.T24A:p.D8E,ANK3:NM_001320874:exon24:c.T2622A:p.D874E,ANK3:NM_020987:exon24:c.T2622A:p.D874E,ANK3:NM_001204403:exon25:c.T2604A:p.D868E,ANK3:NM_001204404:exon25:c.T2625A:p.D875E	.	426	1084	12	0	0	12	0.00550459	.	.	.	1656190	ANK3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00299521	0.0028	0	8.657e-05	0	0	0	0	0.0208	0.0023932	370	154602	rs564078262	0.0013	0.0013	0.0007	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	2.993e-05	0	0	2.52e-05	0	0.0005	6.297e-06	0.0012	0.0203	0.0008	0.0008	0.0003	0.0012	0.0237	0.0006	0.0006	0.0201	0.0188	0	0	0	0	0	0	0	1.471e-05	0	0.0237	0.055	0.91255	T	0.256	0.92824	T	0.999	0.77913	D	0.991	0.79672	D	0.000548	0.43413	D	0.000000	0.999949	0.51968	D	2.035	0.55589	M	-0.25	0.67011	T	-3.91	0.73042	D	0.702	0.84922	-0.4236	0.71273	T	0.366	0.72628	T	10	0.008994967	0.00203	T	.	.	.	0.184	0.45763	0.23	0.15705	0.833616854505	0.83203	0.38732569898397035	0.38647	1.52304635375	0.87461	0.731369614601	0.71706	T	0.71737	0.91985	D	-0.176091	0.24318	T	-0.00946234	0.69720	D	0.131451412296852	0.15516	T	0.935306	0.80758	D	0.20115554	0.42116	0.25534868	0.51216	0.23102148	0.45867	0.2541328	0.51072	-4.362	0.29585	T	0.7339009400252959	0.81567	0.632	0.80970	P	.;.;.;.;.;.	.;.;.;.;.;.	2.345965	0.30070	18.32	0.99587688601317248	0.73395	0.80688	0.40262	D	AEFGBCI	0.620464	0.60552	D	0.087170156281739	0.45866	2.835983	0.104404969218638	0.44773	2.752652	0.999966195976818	0.48965	0.542737	0.22433	0	0.588066	0.40923	0	0.685571	0.62057	0	0.655142	0.61905	0	.	.	6.02	0.957	0.18736	2.269000	0.43005	0.253000	0.16451	0.756000	0.94297	1.000000	0.71638	0.257000	0.23957	0.996000	0.76049	0.7345:0.0:0.2655:0.0	9.966	0.40898	878	0.29785	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	1160.83	36	chr10	60139080	.	A	T	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.527;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	5	0	1	0
chr10	60208146	60208146	C	T	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001204404:exon10:c.G1033A:p.D345N,ANK3:NM_001320874:exon10:c.G1084A:p.D362N,ANK3:NM_020987:exon10:c.G1084A:p.D362N,ANK3:NM_001204403:exon11:c.G1066A:p.D356N	.	.	.	.	.	.	.	.	.	.	.	2057606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0340782614113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000468	0.44119	D	0.000000	1	0.81001	D	0.525	0.13617	N	2.41	0.15492	T	-4.25	0.76094	D	0.607	0.71854	-1.0657	0.10386	T	0.085	0.33241	T	10	0.5186378	0.62513	D	0.034078	0.55428	D	0.301	0.62179	0.361	0.36548	0.615371241448	0.61226	0.5651495797369473	0.56441	1.56905615492	0.88162	0.886943995953	0.94874	D	0.437727	0.78364	T	-0.173721	0.24673	T	-0.487315	0.23673	T	0.985933244228363	0.76786	D	0.994593	0.98228	D	0.26040813	0.49097	0.25852486	0.51586	0.26040813	0.49097	0.25852486	0.51585	-11.388	0.83033	D	0.6187938037992031	0.68697	0.872	0.81017	P	.;.;.	.;.;.	5.137617	0.85998	28.8	0.99924332449378639	0.98980	0.97746	0.76833	D	AEFGBI	0.877625	0.80238	D	0.516483525993884	0.68063	5.166045	0.505243244594011	0.68344	5.206919	0.999999999677697	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.78	4.78	0.60666	7.863000	0.85446	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.010	0.89142	881	0.29269	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2863.83	199	chr10	60208146	.	C	T	2863.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.541;DP=372;ExcessHet=0;FS=7.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.546;SOR=1.152	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	5	0	1	0
chr10	62050888	62050888	C	T	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon2:c.C5T:p.A2V,ARID5B:NM_032199:exon5:c.C734T:p.A245V	.	.	.	.	.	.	.	.	0.9972	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0345551945743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.91255	D	0.012	0.92824	D	1.0	0.90584	D	0.996	0.86255	D	0.000633	0.42799	D	0.263748	1	0.81001	D	.	.	.	1.87	0.24085	T	-3.11	0.63669	D	0.858	0.93959	-0.9468	0.41515	T	0.182	0.52904	T	9	0.6473517	0.73744	D	0.034555	0.55756	D	0.251	0.56024	0.192	0.10304	0.497815358078	0.49418	0.8860143109140984	0.88570	1.74758098799	0.90959	0.752103924751	0.74757	T	0.64333	0.89089	D	0.0651925	0.60259	T	-0.144132	0.59759	T	0.98307192325592	0.74879	D	0.90231	0.65919	D	0.18590957	0.39975	0.21277419	0.45760	0.18590957	0.39975	0.21277419	0.45759	-7.324	0.56366	T	.	.	0.922	0.87779	P	.;.	.;.	5.409781	0.90554	31	0.99932754441599558	0.99439	0.94082	0.60058	D	AEFBCIJ	0.798950	0.72535	D	0.864186983444474	0.89900	10.16595	0.861435259526614	0.93666	12.19622	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.491513	0.07944	0	0.665054	0.64577	0	.	.	6.03	6.03	0.97798	6.414000	0.73231	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.557	0.99307	727	0.54702	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	817.83	33	chr10	62050888	.	C	T	817.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=216;ExcessHet=0;FS=2.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.973;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	5	0	1	0
chr10	69233072	69233072	A	-	exonic	HKDC1	.	frameshift deletion	HKDC1:NM_025130:exon4:c.434delA:p.H145Lfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2294.79	85	chr10	69233071	.	CA	C	2294.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=407;ExcessHet=0;FS=1.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=0.127;SOR=0.84	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	5	0	1	0
chr10	69405055	69405055	C	T	exonic	TACR2	.	nonsynonymous SNV	TACR2:NM_001057:exon5:c.G968A:p.R323H	.	409	1085	26	2	0	30	0.0136364	.	.	.	724030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	0.0028	0.00439297	0.0035	0.0054	0.0017	0.0001	0	0.0019	0.0056	0.0132	0.0031824	492	154602	rs61732393	0.0020	0.0020	0.0016	0.0024	0.0132	0.0020	0.0019	0.0125	0.0123	0.0062	0.0019	0.0011	0.0001	0.0001	0.0130	0.0011	0.0024	0.0132	0.0031	0.0031	0.0027	0.0036	0.0112	0.0029	0.0028	0.0088	0.0080	0.0061	0	0.0041	0.0006	0.0002	0	0.0136	0.0013	0.0028	0.0112	0.007	0.59928	D	0.24	0.45110	T	0.113	0.26349	B	0.009	0.14300	B	0.006077	0.32295	N	0.339951	0.972741	0.25584	N	1.1	0.28011	L	1.11	0.38883	T	-3.18	0.64478	D	0.41	0.56317	-0.9830	0.34305	T	0.080	0.31765	T	10	0.0076259673	0.00173	T	.	.	.	0.151	0.39764	.	.	0.631684250815	0.62866	0.5104346157756068	0.50965	0.342853355472	0.36211	0.245852425694	0.03344	T	0.169621	0.51706	T	-0.441138	0.01273	T	-0.395409	0.33918	T	0.0182866040650096	0.00547	T	0.891811	0.64041	D	0.107284755	0.25369	0.08081356	0.18312	0.107284755	0.25369	0.08081356	0.18312	-6.35	0.49117	T	.	.	0.077	0.06617	B	.;.;.	.;.;.	3.561692	0.50119	22.9	0.99831297140680508	0.91284	0.27992	0.23431	N	AEFBHCI	0.128793	0.24671	N	-0.134000688240973	0.35917	2.069283	-0.0671722345928298	0.36756	2.143169	0.999968282469769	0.48965	0.490419	0.18000	1	0.434261	0.06401	1	0.564498	0.18976	0	0.727631	0.95156	0	.	.	5.72	3.78	0.42629	0.589000	0.23640	.	.	0.599000	0.40250	0.077000	0.22263	0.779000	0.26763	0.792000	0.37394	0.0:0.7372:0.1324:0.1304	8.643	0.33153	643	0.63827	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013472	0.005051	0.010870	0.006993	0.050000	0.008621	0.027439	0.015152	0.08333	1084.83	34	chr10	69405055	.	C	T	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.534;DP=238;ExcessHet=0;FS=2.241;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-0.566;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	5	0	1	0
chr10	70123442	70123442	T	A	exonic	AIFM2	.	nonsynonymous SNV	AIFM2:NM_001198696:exon3:c.A257T:p.D86V,AIFM2:NM_032797:exon3:c.A257T:p.D86V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0684591405726	7.7e-05	0.000199681	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002393	37	154602	rs151032198	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0018	0.0017	0	4.472e-05	0	2.519e-05	1.872e-05	0.0007	5.845e-05	0.0003	0.0021	9.194e-05	9.187e-05	0.0001	8.058e-05	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	0	0	0	0	0	9.425e-05	0	0.0001	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.971	0.72444	D	0.000006	0.62929	D	0.140285	1	0.81001	D	2.865	0.83145	M	0.54	0.54911	T	-6.43	0.91311	D	0.908	0.91047	-0.4365	0.70846	T	0.305	0.67593	T	10	0.47165102	0.59898	T	0.068459	0.70457	D	0.598	0.84074	.	.	0.770801067495	0.76870	0.8356493000059243	0.83524	0.616023320025	0.56080	0.473914831877	0.35219	T	0.356156	0.72305	T	-0.0124231	0.49926	T	0.202115	0.83245	D	0.544160962104797	0.34259	D	0.844715	0.52235	T	0.89270604	0.90740	0.81104136	0.88966	0.89270604	0.90741	0.81104136	0.88967	-11.831	0.84018	D	.	.	0.642	0.70584	P	.;.;.	.;.;.	4.918971	0.81005	27.4	0.99405312663734824	0.63028	0.95437	0.64717	D	AEFDBCI	0.856139	0.77334	D	0.651649430783787	0.76475	6.493485	0.607231825383903	0.75462	6.315104	0.999999999939606	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	7.353000	0.78667	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	14.934	0.70586	312	0.87382	FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.08333	994.83	35	chr10	70123442	.	T	A	994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.075;DP=245;ExcessHet=0;FS=3.213;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.025;SOR=0.386	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	5	0	1	0
chr10	70730135	70730135	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon6:c.C988T:p.R330C,ADAMTS14:NM_139155:exon6:c.C988T:p.R330C	.	405	1084	32	1	0	34	0.0154405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	.	0.0028	0.00279553	0.0039	0.0009	0.0007	0	0.0008	0.0036	0.0022	0.0127	0.0037516	580	154602	rs41307534	0.0038	0.0038	0.0035	0.0041	0.0122	0.0037	0.0037	0.0116	0.0114	0.0005	0.0009	0.0025	2.52e-05	0.0014	0.0089	0.0036	0.0028	0.0122	0.0025	0.0025	0.0026	0.0025	0.0099	0.0023	0.0022	0.0077	0.0069	0.0006	0.0242	0.0010	0.0032	0	0.0008	0.0102	0.0036	0.0033	0.0099	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000013	0.62929	D	0.065417	0.999946	0.51968	D	2.275	0.64647	M	-0.07	0.63738	T	-5.92	0.88963	D	0.905	0.91047	-0.3974	0.72109	T	0.286	0.65802	T	10	0.012337029	0.00265	T	.	.	.	0.406	0.71869	.	.	0.836419884851	0.83485	0.6708937866827652	0.67027	0.81188555165	0.66771	0.749727368355	0.74406	T	0.326422	0.69704	T	-0.0241255	0.48263	T	0.204	0.83325	D	0.0422191017684646	0.04096	T	0.976302	0.91743	D	0.7497674	0.80855	0.60920113	0.77271	0.7497674	0.80856	0.60920113	0.77272	-13.021	0.89451	D	.	.	0.353	0.56799	A	.;.	.;.	5.829889	0.93735	33	0.99937741511229405	0.99661	0.93661	0.58832	D	AEFDGBI	0.653893	0.62677	D	0.632925660855265	0.75266	6.276043	0.588476998448334	0.74112	6.082002	0.999988406298321	0.51787	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.564101	0.26826	0	.	.	4.7	3.73	0.41982	3.928000	0.56220	3.201000	0.36751	0.599000	0.40250	0.998000	0.41325	0.997000	0.33255	0.997000	0.79791	0.2573:0.7427:0.0:0.0	12.841	0.57185	324	0.86790	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004040	0.000000	0.004076	0.000000	0.000000	0.000000	0.009259	0.007576	0.08333	1045.83	34	chr10	70730135	.	C	T	1045.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=249;ExcessHet=0;FS=6.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.423;SOR=1.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	5	0	1	0
chr10	71679448	71679448	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon16:c.C1814T:p.A605V,CDH23:NM_001171931:exon16:c.C1814T:p.A605V,CDH23:NM_022124:exon16:c.C1814T:p.A605V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	1	1505	13	3	0	19	0.0062727	.	.	.	55048	CDH23-related_disorder|Usher_syndrome_type_1|Usher_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_provided|not_specified	.|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	0.00517932925345	0.0002	0.000199681	0.0011	0.0001	0.0032	0	0	0.0006	0.0013	0.0038	0.0008667	134	154602	rs201475055	0.0006	0.0006	0.0005	0.0007	0.0076	0.0006	0.0005	0.0058	0.0052	2.987e-05	0.0015	0.0036	0	3.748e-05	0.0076	0.0002	0.0009	0.0043	0.0004	0.0004	0.0004	0.0004	0.0033	0.0003	0.0003	0.0021	0.0017	4.808e-05	0	0.0004	0.0052	0	0	0.0034	0.0002	0.0005	0.0033	.	.	.	0.146	0.37872	T	0.001	0.07471	B	0.008	0.13708	B	0.000930	0.41028	D	0.151129	0.999022	0.45899	D	0.59	0.15444	N	.	.	.	.	.	.	0.322	0.37613	-1.0155	0.25175	T	0.114	0.40467	T	9	0.010247946	0.00229	T	0.005179	0.13187	T	0.073	0.21317	.	.	0.655750398851	0.65288	0.2753463945352349	0.27447	.	.	0.533647298813	0.43549	T	0.015068	0.48939	T	-0.347976	0.04856	T	-0.272628	0.47554	T	0.0162588571730987	0.00398	T	0.830817	0.49719	T	0.09795787	0.23097	0.1249246	0.30106	0.11524452	0.27196	0.15859032	0.37027	-3.18	0.12238	T	.	.	0.085	0.12465	B	.;.;.;.;.;.	.;.;.;.;.;.	2.326079	0.29792	18.24	0.99425175833528467	0.63984	0.89425	0.49882	D	AEFDBI	0.427878	0.49164	N	-0.295210741250689	0.29333	1.625713	-0.131422616568966	0.34131	1.959893	0.999989680196985	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.95	4.03	0.46115	1.483000	0.35105	1.401000	0.26197	0.599000	0.40250	0.999000	0.42656	0.990000	0.31317	0.549000	0.30150	0.0:0.8579:0.0:0.1421	11.799	0.51386	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	2001.83	37	chr10	71679448	.	C	T	2001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.24;DP=366;ExcessHet=0;FS=2.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.06;SOR=0.931	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	5	0	1	0
chr10	72859215	72859215	T	G	exonic	MCU	.	nonsynonymous SNV	MCU:NM_001270679:exon3:c.T259G:p.S87A,MCU:NM_001270680:exon3:c.T112G:p.S38A,MCU:NM_138357:exon3:c.T259G:p.S87A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0317968952026	.	.	8.341e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs767464150	1.371e-06	1.368e-06	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.55530	D	0.035	0.54934	D	0.756	0.43409	P	0.283	0.47649	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	1.95	0.23283	T	-1.27	0.32590	N	0.729	0.73015	-0.9944	0.31459	T	0.106	0.38587	T	10	0.42465425	0.57093	T	0.031797	0.53791	D	0.160	0.41473	0.339	0.32979	0.102598925029	0.09809	0.37944658784475405	0.37859	0.604328181795	0.55379	0.84485244751	0.88834	D	0.057675	0.30631	T	-0.0485694	0.44665	T	-0.307543	0.43922	T	0.794277608394623	0.45970	D	0.810219	0.53152	T	0.627081	0.74142	0.41180804	0.65401	0.627081	0.74143	0.41180804	0.65401	-6.883	0.53173	T	.	.	0.156	0.42791	B	.;.;.;.	.;.;.;.	4.218047	0.63779	24.6	0.99413295481475328	0.63405	0.98776	0.86705	D	AEFBI	0.914862	0.87883	D	0.489659394538188	0.66485	4.956149	0.554479773231223	0.71710	5.696412	0.999999999172455	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	7.824000	0.84838	7.819000	0.69683	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.550	0.75879	938	0.14419	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	879.83	41	chr10	72859215	.	T	G	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.127;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.081;SOR=0.671	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1337	5	0	1	0
chr10	73136763	73136763	T	G	exonic	ECD	.	nonsynonymous SNV	ECD:NM_001135753:exon12:c.A1516C:p.M506L,ECD:NM_007265:exon13:c.A1645C:p.M549L,ECD:NM_001135752:exon14:c.A1744C:p.M582L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0143555955946	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs757129776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.932	0.51990	P	0.835	0.59863	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.88	0.23884	T	-2.92	0.61129	D	0.608	0.63459	-0.9312	0.43963	T	0.144	0.46696	T	10	0.8525817	0.84441	D	0.014356	0.34425	T	0.260	0.57221	0.836	0.94356	0.653256221078	0.65036	0.5431052245018763	0.54236	0.420894402933	0.42607	0.578733921051	0.49907	T	0.238597	0.60653	T	0.0437469	0.57535	T	-0.174937	0.56989	T	0.985818088054657	0.76699	D	0.816918	0.47860	T	0.80798715	0.84421	0.75828904	0.85717	0.80798715	0.84422	0.75828904	0.85718	-8.363	0.63518	D	.	.	0.388	0.62182	A	.;.;.	.;.;.	4.411807	0.68252	25.2	0.98156865626166534	0.38738	0.98188	0.80368	D	AEFDGBI	0.635621	0.61507	D	0.657144464044871	0.76834	6.559746	0.662220618630041	0.79523	7.100576	0.999967277518229	0.48965	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.635000	0.74153	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.637	0.61698	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1106.83	43	chr10	73136763	.	T	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=265;ExcessHet=0;FS=0.854;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.683;SOR=0.536	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1248	5	0	1	0
chr10	73427637	73427637	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon3:c.C353T:p.S118F	.	434	1080	8	0	0	8	0.00369004	.	.	.	4020749	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0230906134144	0.0023	0.000998403	0.0023	0.0002	0.0008	0	0.0006	0.0027	0	0.0052	0.0023286	360	154602	rs150492078	0.0037	0.0037	0.0037	0.0037	0.0053	0.0036	0.0036	0.0049	0.0047	0.0004	0.0011	0.0063	5.043e-05	0.0005	0.0028	0.0040	0.0037	0.0053	0.0023	0.0023	0.0025	0.0022	0.0072	0.0021	0.0021	0.0054	0.0047	0.0006	0	0.0014	0.0069	0	0.0003	0.0034	0.0036	0.0024	0.0072	0.028	0.46129	D	0.048	0.48594	D	0.896	0.49324	P	0.694	0.53938	P	0.065794	0.21855	N	0.512547	0.996597	0.22965	N	.	.	.	0.83	0.47815	T	-2.36	0.52128	N	0.477	0.51226	-0.8707	0.50476	T	0.189	0.53990	T	10	0.0073885918	0.00168	T	0.023091	0.46030	T	0.103	0.29403	.	.	0.526592550251	0.52305	0.3340768957488348	0.33320	0.450182816074	0.44785	0.389175772667	0.23554	T	0.030837	0.21761	T	-0.470668	0.00842	T	-0.443731	0.28391	T	0.0379450644298941	0.03322	T	0.70113	0.31087	T	0.13453281	0.31253	0.16352764	0.37929	0.13453281	0.31253	0.16352764	0.37928	-8.578	0.64944	D	.	.	0.13	0.27998	B	.;.	.;.	3.279753	0.44934	22.0	0.99570969972424161	0.72379	0.96890	0.71498	D	AEFBI	0.319789	0.42309	N	0.403452128953316	0.61611	4.364674	0.439094723153886	0.64020	4.647852	0.014836006703937	0.12644	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.99	0.65942	3.816000	0.55363	4.822000	0.45127	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.968000	0.53726	0.0:0.1942:0.8058:0.0	14.435	0.66852	824	0.40336	Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.000000	0.021341	0.000000	0.08333	1034.83	34	chr10	73427637	.	G	A	1034.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.55;DP=243;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.19;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	5	0	1	0
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.1667	2154.06	36	chr10	73498685	.	C	T	2154.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.024;DP=331;ExcessHet=0.4139;FS=2.588;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.546;SOR=0.509	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1299,0,765	4	0	2	0
chr10	79849996	79849996	C	T	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon10:c.C2027T:p.T676M	.	655	797	60	10	0	80	0.0477897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00752286326415	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283256334	0.0013	0.0083	0.0011	0.0015	0.0100	0.0012	0.0012	0.0090	0.0087	0.0013	0.0044	0.0013	0.0100	0.0010	0.0015	0.0007	0.0017	0.0018	0.0010	0.0073	0.0010	0.0011	0.0016	0.0008	0.0008	0.0012	0.0011	0.0016	0	0.0009	0.0005	0.0016	0.0002	0	0.0008	0	0.0010	0.906	0.02389	T	0.483	0.11795	T	.	.	.	.	.	.	0.049797	0.02003	N	2.004150	1	0.08975	N	.	.	.	2.81	0.10975	T	0.09	0.05917	N	0.059	0.03069	-0.9915	0.32218	T	0.014	0.05417	T	7	0.053594023	0.05576	T	0.007523	0.19952	T	0.003	0.00094	0.144	0.04746	0.107399877778	0.10242	0.08661387145835503	0.08595	.	.	.	.	.	0.00283	0.02227	T	-0.43608	0.01364	T	-0.864175	0.00799	T	0.0317004563033394	0.02258	T	0.430757	0.11694	T	0.012236715	0.00030	0.025865948	0.00648	0.012236715	0.00030	0.025865948	0.00647	-5.039	0.37261	T	.	.	0.077	0.06479	B	.	.	-0.445032	0.02050	0.187	0.13272315138501015	0.00256	0.00045	0.00362	N	AEFI	0.014412	0.00228	N	-1.34859579757259	0.03140	0.1397655	-1.57937064157927	0.01781	0.08108524	5.67193482380288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.844	-1.69	0.07747	-3.458000	0.00516	-20.000000	0.00162	-1.652000	0.00824	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3413:0.0:0.6587	5.420	0.15696	729	0.54495	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	.	.	.	.	.	.	.	.	0.1	37.75	37	chr10	79849996	.	C	T	37.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.51;DP=192;ExcessHet=0;FS=5.12;MLEAC=1;MLEAF=0.1;MQ=33.96;MQRankSum=-2.434;QD=0.9;ReadPosRankSum=-0.72;SOR=2.212	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	0	1	1
chr10	80132770	80132796	CCCTGCTCTGCGCGCTGACCGGACTGG	-	exonic	PLAC9	.	nonframeshift deletion	PLAC9:NM_001012973:exon1:c.8_34del:p.C6_L14del,PLAC9:NM_001331125:exon1:c.8_34del:p.C6_L14del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433307342	1.497e-06	1.368e-06	2.952e-06	0	6.668e-05	2.5e-07	9e-08	1.104e-05	4.13e-06	0	0	0	6.668e-05	0	0	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	6.806e-05	2.849e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	58.83	17	chr10	80132769	.	CCCCTGCTCTGCGCGCTGACCGGACTGG	C	58.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=65;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.524;SOR=0.446	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	5	0	1	0
chr10	84144915	84144915	T	-	exonic	GHITM	.	frameshift deletion	GHITM:NM_014394:exon5:c.382delT:p.Y128Ifs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5481.03	33	chr10	84144914	.	CT	C	5481.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=438;ExcessHet=0.4139;FS=3.133;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=1.71;SOR=0.684	GT:AD:DP:GQ:PL	0/1:76,94:170:99:3289,0,2515	4	0	2	0
chr10	86687235	86687235	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G511A:p.A171T,LDB3:NM_001080114:exon6:c.G511A:p.A171T,LDB3:NM_001171610:exon6:c.G856A:p.A286T,LDB3:NM_001171611:exon6:c.G856A:p.A286T,LDB3:NM_001368066:exon6:c.G511A:p.A171T,LDB3:NM_001368067:exon6:c.G511A:p.A171T,LDB3:NM_001368068:exon6:c.G511A:p.A171T	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	175315	LDB3-related_disorder|Cardiovascular_phenotype|not_specified|not_provided|Myofibrillar_myopathy_4	.|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.487	0.0895439762008	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0012	0.0003234	50	154602	rs373632943	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0	2.236e-05	0.0031	0	1.873e-05	0.0012	7.104e-05	0.0004	0.0011	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.719e-05	0.0001	8.877e-05	2.413e-05	0	6.545e-05	0.0020	0	0	0	0.0002	0	0.0002	0.095	0.37966	T	0.287	0.29639	T	0.969	0.90584	D	0.475	0.88582	P	.	.	.	.	0.999848	0.81001	D	.	.	.	-2.48	0.89071	D	-1.44	0.40468	N	0.758	0.90818	0.379	0.88787	D	0.731	0.90801	D	9	0.20944616	0.37307	T	0.089544	0.75346	D	0.487	0.77528	.	.	0.85673930684	0.85536	0.8005427467644748	0.80008	0.751670780279	0.63815	.	.	.	.	.	.	-0.141424	0.29663	T	-0.0263633	0.68610	D	0.141569112921031	0.16410	T	0.975102	0.91204	D	.	.	.	.	.	.	.	.	-6.274	0.55445	T	.	.	0.761	0.75543	P	.;.;.;.;.	.;.;.;.;.	3.285604	0.45040	22.1	0.99927132148271658	0.99163	0.99730	0.99029	D	AEFDBI	0.947084	0.95726	D	0.5939877077904	0.72796	5.862817	0.620990179665641	0.76465	6.496245	1.0	0.98316	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	18.601	0.91203	893	0.26510	.;.;Domain of unknown function DUF4749|Zasp-like motif;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	642.83	98	chr10	86687235	.	G	A	642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=301;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.398;SOR=1.024	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	5	0	1	0
chr10	86942613	86942613	-	CGGCCC	exonic	MMRN2	.	nonframeshift insertion	MMRN2:NM_024756:exon6:c.2170_2171insGGGCCG:p.A723_A724insGA	.	397	1118	6	1	0	8	0.00356506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	.	0.0025	0.0009	0.0016	0.0004	0.0003	0.0035	0.0058	0.0018	0.000461	12	26028	rs766938013	0.0027	0.0027	0.0027	0.0027	0.0048	0.0026	0.0026	0.0034	0.0029	0.0008	0.0016	0.0035	7.559e-05	0.0006	0.0048	0.0029	0.0032	0.0023	0.0024	0.0024	0.0026	0.0022	0.0035	0.0022	0.0021	0.0031	0.0030	0.0012	0	0.0026	0.0040	0	0.0005	0.0034	0.0035	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	831.79	36	chr10	86942613	.	G	GCGGCCC	831.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.117;DP=248;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=2.06;SOR=0.458	GT:AD:DP:GQ:PL	0/1:27,22:49:99:842,0,1026	5	0	1	0
chr10	87226159	87226159	A	G	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.A329G:p.N110S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00103317061678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210893219	0	1.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.30800	T	0.13	0.46632	T	0.784	0.44396	P	0.094	0.30180	B	.	.	.	.	1	0.08975	N	.	.	.	2.76	0.22678	T	-0.17	0.09627	N	0.073	0.04668	-1.0133	0.25880	T	0.019	0.07893	T	9	0.092519015	0.16300	T	0.001033	0.01144	T	0.057	0.16321	.	.	0.043077524339	0.03247	0.008263722360741998	0.00790	.	.	0.574547290802	0.49319	T	2.9E-4	0.00073	T	-0.345578	0.05011	T	-0.734176	0.04141	T	0.173205587305457	0.18795	T	0.624837	0.24114	T	0.04741855	0.08101	0.09410983	0.22261	0.04741855	0.08101	0.09410983	0.22261	-1.469	0.01702	T	.	.	0.110	0.21049	B	.;.	.;.	0.696168	0.10646	7.348	0.51311267395978855	0.04540	0.00049	0.00384	N	AEFI	0.011187	0.00094	N	-1.03820978570498	0.07820	0.3646311	-1.14791676755139	0.06806	0.3288353	5.31027560473849E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.352	0.15287	0.229000	0.17614	0.038000	0.13828	-0.443000	0.05165	0.946000	0.32893	0.000000	0.08366	0.003000	0.05239	0.2696:0.0:0.7304:0.0	3.662	0.07779	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	1.0	42.26	.	chr10	87226159	.	A	G	42.26	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=21.13;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	0	1	0	5
chr10	87226171	87226171	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C341T:p.A114V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00110528607748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242508018	0	2.547e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.528	0.10173	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.68	0.24085	T	-0.53	0.19085	N	0.13	0.12484	-1.0109	0.26635	T	0.026	0.11264	T	9	0.091159165	0.15944	T	0.001105	0.01312	T	0.017	0.02790	0.452	0.51448	0.043077524339	0.03247	0.011757654140634706	0.01135	.	.	0.525236666203	0.42364	T	0.002815	0.02207	T	-0.313403	0.07451	T	-0.687958	0.06508	T	0.115731609862436	0.14008	T	0.549145	0.18877	T	0.027473545	0.01945	0.08075826	0.18297	0.027473545	0.01945	0.08075826	0.18297	-2.896	0.09103	T	.	.	0.114	0.22680	B	.;.	.;.	0.365152	0.07376	3.999	0.47707312240261096	0.03922	0.00188	0.01093	N	AEFI	0.022552	0.01142	N	-1.2408005680184	0.04422	0.199544	-1.3213942274036	0.04154	0.1953517	5.92224279686751E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	-0.841	0.10207	-0.143000	0.10278	-3.116000	0.03048	0.343000	0.19815	0.246000	0.24809	0.000000	0.08366	0.001000	0.02609	0.0:0.5325:0.0:0.4675	3.976	0.08965	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	1.0	42.26	.	chr10	87226171	.	C	T	42.26	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=21.13;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	0	1	0	5
chr10	87228559	87228559	G	A	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.G679A:p.A227T	.	.	.	.	.	.	.	.	.	.	.	3570172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00143511593351	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199718151	7.447e-05	0.0004	6.994e-05	7.905e-05	0.0005	6.298e-05	5.854e-05	0.0003	0.0002	0.0005	0.0001	3.877e-05	2.522e-05	7.619e-05	0	5.248e-05	0.0002	0.0001	4.63e-05	0.0003	5.174e-05	4.061e-05	9.698e-05	2.122e-05	1.535e-05	3.26e-05	1.922e-05	9.698e-05	0	0	0	0	0	0	4.444e-05	0	0	0.909	0.03068	T	0.925	0.13103	T	0.036	0.20732	B	0.021	0.19346	B	0.763085	0.09607	N	0.883975	1	0.08975	N	.	.	.	2.02	0.21119	T	0.55	0.03352	N	0.204	0.22614	-1.0244	0.22279	T	0.064	0.26597	T	9	0.051602364	0.05066	T	0.001435	0.02139	T	0.023	0.04649	0.335	0.32329	0.147330786459	0.14319	0.04651646121981675	0.04595	.	.	0.59480881691	0.52172	T	0.001913	0.01327	T	-0.209094	0.19506	T	-0.538126	0.18480	T	0.0326954163610935	0.02420	T	0.283672	0.04999	T	0.025062783	0.01403	0.047015186	0.06680	0.025062783	0.01402	0.047015186	0.06679	-4.802	0.35925	T	.	.	0.091	0.15341	B	.;.	.;.	0.560745	0.09292	6.075	0.8527049045715942	0.15789	0.00295	0.01577	N	AEFI	0.020468	0.00811	N	-0.614519648228761	0.18506	0.9614216	-0.819970716240098	0.14012	0.7299452	2.7853756831137E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.303000	0.18965	-20.000000	0.00162	0.380000	0.20399	0.051000	0.21449	0.000000	0.08366	0.022000	0.11911	0.0:0.0:1.0:0.0	6.136	0.19451	925	0.17918	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	.	.	.	.	.	.	.	.	0.08333	70.84	18	chr10	87228559	.	G	A	70.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.35;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.62;MQRankSum=0.563;QD=3.94;ReadPosRankSum=-1.837;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:27:.:.:0,27,405:.	5	0	1	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	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	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.1667	2403.06	34	chr10	87862043	.	A	T	2403.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.324;DP=334;ExcessHet=0.4139;FS=3.206;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.282;SOR=0.508	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1136,0,1442	4	0	2	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	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	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.1667	3029.06	34	chr10	87862096	.	T	C	3029.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=318;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.089;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,40:90:99:0|1:87862096_T_C:1466,0,1898:87862096	4	0	2	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	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	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.1667	3069.06	34	chr10	87862106	.	G	C	3069.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=316;ExcessHet=0.4139;FS=0.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.254;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,39:87:99:0|1:87862096_T_C:1431,0,1851:87862096	4	0	2	0
chr10	89214971	89214971	C	T	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.G709A:p.V237I,LIPA:NM_000235:exon10:c.G1057A:p.V353I,LIPA:NM_001127605:exon10:c.G1057A:p.V353I	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3382555	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0134274391072	.	.	3.297e-05	0	0	0.0001	0	2.999e-05	0	6.058e-05	2.59e-05	4	154602	rs751167376	1.437e-05	1.437e-05	1.361e-05	1.513e-05	1.799e-05	9.23e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.27310	T	0.147	0.32783	T	0.069	0.23796	B	0.139	0.33484	B	0.269427	0.15157	N	0.660669	0.999997	0.22212	N	1.125	0.28843	L	-0.59	0.71543	T	-0.56	0.17003	N	0.059	0.07262	-0.8065	0.54760	T	0.243	0.61177	T	10	0.18677318	0.34158	T	0.013427	0.32827	T	0.144	0.38394	0.684	0.82175	0.517983797298	0.51440	0.5983936005672345	0.59770	0.123377502336	0.13895	0.248874813318	0.03650	T	0.10631	0.41753	T	-0.311131	0.07649	T	-0.58784	0.13854	T	0.0521272252982222	0.05868	T	0.70163	0.32527	T	0.06116711	0.12637	0.05671423	0.10183	0.06116711	0.12636	0.05671423	0.10182	-5.948	0.46355	T	0.15554561943095946	0.18651	0.092	0.20934	B	.;.;.	.;.;.	-1.614721	0.00233	0.004	0.89021913874375191	0.18446	0.02799	0.07519	N	AEFDBIJ	0.120287	0.23439	N	-1.27559160230459	0.03971	0.1783993	-1.3968522778851	0.03285	0.152947	0.999998182669692	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	-5.46	0.02404	-2.386000	0.01139	-13.298000	0.00467	-1.643000	0.00837	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.4841:0.0:0.5159	13.504	0.60927	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	3991.06	33	chr10	89214971	.	C	T	3991.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=482;ExcessHet=0.4139;FS=0.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.75;SOR=0.743	GT:AD:DP:GQ:PL	0/1:83,85:168:99:1979,0,1927	4	0	2	0
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|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	1	0	1	0	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.08333	991.83	33	chr10	89306689	.	G	C	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.035;DP=525;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.176;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1334:.	5	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	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	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.08333	1173.83	33	chr10	89339709	.	G	C	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=278;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.374;SOR=0.85	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1298	5	0	1	0
chr10	90857666	90857666	C	T	exonic	HTR7	.	nonsynonymous SNV	HTR7:NM_000872:exon1:c.G6A:p.M2I,HTR7:NM_019859:exon1:c.G6A:p.M2I,HTR7:NM_019860:exon1:c.G6A:p.M2I	.	420	1099	3	0	0	3	0.00136302	.	.	.	3270708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.882569842982	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	9.7e-05	15	154602	rs201619956	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0003	0	0	0.0012	0.0002	0.0002	8.624e-05	8.541e-05	8.531e-05	7.712e-05	9.407e-05	0.0003	4.956e-05	3.962e-05	0.0001	8.276e-05	0	0	0.0003	0.0003	0	0	0	0.0001	0	0	0.0	0.91255	D	0.054	0.47097	T	0.261	0.31520	B	0.069	0.27757	B	0.108961	0.19505	N	0.517876	0.995225	0.23342	N	0.695	0.17993	N	-0.12	0.64630	T	-0.08	0.08340	N	0.407	0.48504	-0.9641	0.38389	T	0.161	0.49631	T	10	0.41333482	0.56374	T	0.88257	0.99106	D	0.288	0.60691	0.233	0.16155	0.837500281751	0.83595	0.5110983383236349	0.51031	0.463146450932	0.45825	0.864582419395	0.91785	D	0.116989	0.43674	T	-0.123824	0.32499	T	-0.136206	0.60447	T	0.123456317039614	0.14764	T	0.721828	0.33531	T	0.82483536	0.85547	0.69912505	0.82276	0.82483536	0.85549	0.69912505	0.82277	-4.244	0.27398	T	.	.	0.512	0.65127	A	.;.;.	.;.;.	3.069701	0.41256	21.3	0.98859657376146359	0.47442	0.64111	0.32302	D	AEFDGBHCI	0.228910	0.35251	N	-0.255761903557223	0.30874	1.725686	-0.190680589889357	0.31878	1.808239	0.999999994809864	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.82	2.91	0.32903	0.752000	0.26027	5.698000	0.49367	0.495000	0.22486	0.002000	0.15269	1.000000	0.68203	0.892000	0.42986	0.0:0.6724:0.2259:0.1018	7.418	0.26229	915	0.20917	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002047	0.000000	0.000000	0.002976	0.000000	0.009091	0.006329	0.000000	0.1667	539.07	24	chr10	90857666	.	C	T	539.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=117;ExcessHet=0.4139;FS=1.177;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.582;SOR=0.932	GT:AD:DP:GQ:PL	0/1:13,5:18:99:128,0,377	4	0	2	0
chr10	90872018	90872018	C	T	exonic	RPP30	.	nonsynonymous SNV	RPP30:NM_001104546:exon1:c.C32T:p.A11V,RPP30:NM_006413:exon1:c.C32T:p.A11V	.	425	1066	30	1	0	32	0.0147874	.	.	.	2809458	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00875228163209	0.0016	0.00139776	0.0019	0.0004	0.0016	0	0.0005	0.0026	0.0077	0.0017	0.0017788	275	154602	rs41286916	0.0017	0.0017	0.0016	0.0018	0.0161	0.0017	0.0016	0.0135	0.0125	0.0006	0.0024	0.0039	0	0.0004	0.0161	0.0017	0.0025	0.0022	0.0014	0.0014	0.0013	0.0014	0.0029	0.0012	0.0011	0.0018	0.0015	0.0003	0	0.0022	0.0014	0.0002	9.413e-05	0.0136	0.0019	0.0038	0.0029	0.5	0.07895	T	0.467	0.12776	T	0.378	0.34287	B	0.033	0.22329	B	0.281878	0.14930	N	0.675479	1	0.08975	N	0.345	0.11182	N	0.93	0.47130	T	-0.56	0.17003	N	0.116	0.19459	-1.0269	0.21462	T	0.024	0.10103	T	10	0.0033192933	0.00057	T	0.008752	0.23099	T	0.056	0.15993	.	.	0.221019684889	0.21715	0.4582648281748094	0.45744	0.0202821939172	0.01990	0.388315975666	0.23432	T	0.093489	0.39221	T	-0.568584	0.00226	T	-0.594746	0.13257	T	0.00655352430683368	0.00073	T	0.605739	0.22785	T	0.09061524	0.21209	0.048392978	0.07179	0.09061524	0.21209	0.048392978	0.07179	-4.272	0.27783	T	.	.	0.117	0.35581	B	.;.;.	.;.;.	0.625966	0.09942	6.701	0.9060409793012727	0.19857	0.01468	0.04899	N	ALL	0.064470	0.12520	N	-1.15574555951079	0.05685	0.2598519	-1.21311743078272	0.05699	0.272256	0.999999999976575	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.41	-2.26	0.06478	-0.315000	0.08122	-0.238000	0.10617	-0.916000	0.02226	0.001000	0.13787	0.062000	0.22056	0.030000	0.13115	0.3003:0.2656:0.134:0.3002	0.274	0.00219	916	0.20744	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.015152	0.032609	0.023392	0.000000	0.008621	0.006098	0.007576	0.08333	579.83	33	chr10	90872018	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.713;DP=229;ExcessHet=0;FS=2.33;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.566;SOR=0.41	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	5	0	1	0
chr10	91982215	91982215	A	G	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon17:c.A2038G:p.M680V	.	427	1088	7	0	0	7	0.0032066	.	.	.	2359577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.483	0.0369596916006	0.0004	.	0.0004	0	0.0008	0	0	0.0005	0.0011	0.0004	0.0003363	52	154602	rs149461421	0.0003	0.0003	0.0003	0.0003	0.0154	0.0003	0.0003	0.0128	0.0119	2.988e-05	0.0007	3.827e-05	0	0	0.0154	0.0002	0.0005	0.0002	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	2.406e-05	0	0.0008	0	0	0	0.0340	0.0005	0.0024	0	0.46	0.08736	T	0.483	0.11795	T	0.027	0.19556	B	0.042	0.24114	B	0.000000	0.84330	D	0.000000	0.999668	0.48141	D	1.4	0.35362	L	-2.5	0.89219	D	-1.03	0.27052	N	0.518	0.54845	-0.2359	0.76733	T	0.549	0.83484	D	10	0.11179483	0.20947	T	0.03696	0.57318	D	0.483	0.77271	.	.	0.901563006291	0.90058	0.5201709987908205	0.51940	0.494330584606	0.47994	0.633355021477	0.57621	T	0.158061	0.50092	T	-0.0361314	0.46522	T	0.0790731	0.75516	D	0.0315290495366347	0.02231	T	0.879712	0.59601	D	0.12123095	0.28512	0.12723781	0.30631	0.12123095	0.28512	0.12723781	0.30631	-7.335	0.56444	T	.	.	0.110	0.21011	B	.;.	.;.	2.979749	0.39743	21.0	0.90498326808902518	0.19755	0.97730	0.76719	D	AEFGBI	0.599623	0.59257	D	-0.0253998463583208	0.40707	2.422147	0.152615693568399	0.47280	2.960665	0.989998491727388	0.32002	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	5.727000	0.68171	9.412000	0.80708	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9247:0.0:0.0753:0.0	10.113	0.41747	922	0.19044	Domain of unknown function DUF3535;Domain of unknown function DUF3535	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.026316	0.000000	0.025862	0.006098	0.000000	0.1667	1671.06	33	chr10	91982215	.	A	G	1671.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.612;DP=265;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.8;SOR=0.702	GT:AD:DP:GQ:PL	0/1:21,25:46:99:646,0,554	4	0	2	0
chr10	93333796	93333796	G	A	exonic	MYOF	.	stopgain	MYOF:NM_133337:exon41:c.C4642T:p.R1548X,MYOF:NM_013451:exon42:c.C4681T:p.R1561X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.141e-05	0.0001	8.642e-05	0	0	2.998e-05	0	6.058e-05	3.88e-05	6	154602	rs554218131	2.257e-05	2.257e-05	2.586e-05	1.925e-05	8.961e-05	1.61e-05	1.416e-05	2.375e-05	1.258e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	2.158e-05	1.656e-05	3.478e-05	2.627e-05	2.625e-05	3.855e-05	1.343e-05	7.219e-05	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.219e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000209	0.47681	D	0.180616	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.943	0.95256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.86784	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.710050	0.99238	42	0.9981203783895688	0.89620	0.47878	0.28081	N	ALL	0.344259	0.43981	N	0.37209227916306	0.59915	4.175076	0.154215600336982	0.47365	2.967899	0.99999999305607	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.651303	0.49530	0	0.711	0.71501	0	.	.	5.23	2.16	0.26663	0.867000	0.27621	4.998000	0.46575	-0.111000	0.15049	0.024000	0.20007	1.000000	0.68203	0.993000	0.69303	0.0683:0.0:0.4691:0.4626	9.029	0.35409	769	0.49307	.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 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	.	.	.	.	.	.	.	.	0.08333	1263.83	33	chr10	93333796	.	G	A	1263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.152;DP=305;ExcessHet=0;FS=1.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.26;SOR=0.899	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,104,1205	5	0	1	0
chr10	93579178	93579178	A	G	exonic	FFAR4	.	nonsynonymous SNV	FFAR4:NM_181745:exon3:c.A716G:p.D239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0137919787355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021673956	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.07521	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.015602	0.01421	N	2.957200	1	0.08975	N	-0.69	0.01958	N	-0.6	0.71662	T	0.21	0.04776	N	0.174	0.18649	-1.0483	0.14875	T	0.150	0.47804	T	10	0.051296085	0.04988	T	0.013792	0.33457	T	0.061	0.17616	0.408	0.44230	0.195762928549	0.19159	0.5709901508735257	0.57027	0.689680565843	0.60497	0.306136578321	0.11324	T	0.018028	0.14606	T	-0.210242	0.19345	T	-0.539775	0.18318	T	0.055655882618731	0.06466	T	0.355164	0.08047	T	0.0209105	0.00668	0.033022486	0.02131	0.0209105	0.00668	0.033022486	0.02130	.	.	.	.	.	0.109	0.20663	B	.	.	-0.341394	0.02441	0.278	0.56357177541158499	0.05535	0.01269	0.04444	N	AEFDGBHCI	0.036514	0.04877	N	-1.46947084342636	0.02068	0.09094408	-1.55181083327868	0.01964	0.08965596	0.999999970804544	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	-3.95	0.03844	-0.963000	0.03947	-1.139000	0.06214	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2579:0.3444:0.2286:0.169	0.876	0.01147	237	0.90758	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	.	.	.	.	.	.	.	.	0.08333	951.83	34	chr10	93579178	.	A	G	951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.959;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.17;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	5	0	1	0
chr10	94254191	94254191	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon9:c.G2357C:p.G786A,PLCE1:NM_001288989:exon10:c.G3281C:p.G1094A,PLCE1:NM_016341:exon10:c.G3281C:p.G1094A	Nephrotic syndrome, type 3, Autosomal recessive	1	1506	14	1	0	16	0.00528402	0.9372	0.806	.	317340	Nephrotic_syndrome,_type_3|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.0459639840032	.	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs61732523	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.805e-05	0.0007	0.0005	2.995e-05	2.237e-05	0	0	0	0.0014	0.0001	0.0002	0	9.202e-05	9.193e-05	8.996e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	0.0001	9.898e-05	0	0	0	0	0	0	0	0.0002	0	0	0.004	0.65419	D	0.0	0.92824	D	0.999	0.90584	D	0.951	0.92359	D	0.000001	0.84330	D	0.000000	0.999995	0.58761	D	2.505	0.72935	M	1.46	0.32238	T	-2.63	0.56466	D	0.772	0.87049	-0.8383	0.52760	T	0.171	0.51181	T	10	0.75354195	0.75814	D	0.045964	0.62234	D	0.278	0.59497	.	.	0.785868056097	0.78388	0.38582024949644145	0.38497	0.476697284659	0.46795	0.633901834488	0.57698	T	0.512804	0.82809	D	-0.132169	0.31145	T	-0.132793	0.60737	T	0.319477885961533	0.25801	T	0.915508	0.69822	D	0.43981153	0.63391	0.46321234	0.68838	0.43981153	0.63391	0.46321234	0.68838	-3.205	0.12701	T	0.6378690115036595	0.70816	0.287	0.51908	B	.;.;.	.;.;.	4.632905	0.73682	26.0	0.99799011181617847	0.88372	0.99093	0.91122	D	AEFBI	0.962296	0.98384	D	0.705599258156152	0.79999	7.198203	0.667549478794314	0.79923	7.186282	0.999999265633802	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	9.564000	0.97283	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0:1.0:0.0	18.386	0.90412	351	0.85421	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2481.83	33	chr10	94254191	.	G	C	2481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.634;DP=350;ExcessHet=0;FS=1.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=2;SOR=0.561	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr10	94357327	94357327	G	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.C355G:p.P119A	.	435	1074	12	1	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0293336462056	0.0018	0.000798722	0.0015	0.0006	0.0007	0	0.0006	0.0023	0	0.0009	0.0015459	239	154602	rs45484894	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0013	0.0009	0	0.0004	0.0016	0.0025	0.0022	0.0008	0.0018	0.0018	0.0018	0.0018	0.0035	0.0016	0.0016	0.0027	0.0025	0.0004	0.0241	0.0035	0.0014	0	0.0002	0	0.0026	0.0028	0	0.172	0.22660	T	0.05	0.48080	T	0.997	0.70673	D	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.76	0.11515	T	-2.13	0.48354	N	0.464	0.50056	-1.0564	0.12672	T	0.044	0.19111	T	10	0.007900178	0.00179	T	0.029334	0.51865	D	0.186	0.46104	.	.	0.570615151236	0.56727	0.1157346242337762	0.11501	0.381205266977	0.39485	0.527722239494	0.42714	T	0.008842	0.08085	T	-0.408779	0.02025	T	-0.363637	0.37630	T	0.0362242572009563	0.03020	T	0.914509	0.69499	D	0.12627068	0.29579	0.13693327	0.32746	0.12627068	0.29578	0.13693327	0.32745	-4.003	0.23849	T	.	.	0.099	0.16494	B	.	.	3.663444	0.52058	23.2	0.98909315754772842	0.48345	0.99663	0.98459	D	AEFDGBI	0.823444	0.74356	D	0.344724101682489	0.58461	4.018535	0.333513068192767	0.57519	3.918014	0.999999999996242	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	7.514000	0.80644	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.023	0.92900	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	672.83	21	chr10	94357327	.	G	C	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	5	0	1	0
chr10	94762760	94762760	A	C	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon1:c.A55C:p.I19L	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	4	1514	4	0	0	4	0.00131926	.	.	.	622281	not_provided|CYP2C19:_normal_function	MedGen:C3661900|.	practice_guideline	drug_response	.	.	.	.	.	.	.	.	0.091	.	0.0068	0.00459265	0.0021	0.0203	0.0009	0	0	0.0005	0	0.0002	0.0019793	306	154602	rs17882687	0.0010	0.0010	0.0011	0.0010	0.0221	0.0010	0.0010	0.0208	0.0203	0.0221	0.0010	0.0044	2.519e-05	3.746e-05	0.0033	0.0004	0.0023	0.0001	0.0058	0.0058	0.0059	0.0057	0.0192	0.0055	0.0054	0.0181	0.0176	0.0192	0	0.0022	0.0040	0	0	0.0034	0.0004	0.0038	0.0004	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.029327	0.01701	U	9.222560	1	0.08975	N	.	.	.	-0.15	0.65192	T	1.39	0.00846	N	0.078	0.05287	-0.9402	0.42584	T	0.026	0.11043	T	10	0.009020865	0.00204	T	.	.	.	0.091	0.26358	.	.	0.187945064343	0.18414	0.09380556009923187	0.09312	0.00541702681042	0.00476	0.386833816767	0.23222	T	0.002348	0.01739	T	-0.6578	0.00065	T	-0.702724	0.05678	T	0.00278046888062939	0.00029	T	0.00919908	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00681	B	.;.	.;.	-0.477159	0.01941	0.165	0.45439968306307754	0.03566	0.00108	0.00689	N	AEFI	0.049452	0.08544	N	-1.77907849151297	0.00598	0.02578162	-1.71368675146157	0.01078	0.04840313	9.7652552033161E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.14	-4.03	0.03752	-0.464000	0.06765	-7.829000	0.01078	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.4314:0.2286:0.1408:0.1991	0.913	0.01217	570	0.70478	.;.	.	.	.	.	.	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	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	911.83	36	chr10	94762760	.	A	C	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.397;DP=258;ExcessHet=0;FS=2.933;MLEAC=1;MLEAF=0.083;MQ=59.74;MQRankSum=-2.124;QD=10.86;ReadPosRankSum=0.009;SOR=0.405	GT:AD:DP:GQ:PL	0/1:44,40:84:99:922,0,1054	5	0	1	0
chr10	94780535	94780535	C	T	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon4:c.C518T:p.A173V	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	4	1503	15	0	0	15	0.00496524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	7.7e-05	0.00858626	0.0058	9.614e-05	8.672e-05	0.0001	0	7.493e-05	0.0011	0.0422	0.0049999	773	154602	rs61311738	0.0025	0.0025	0.0014	0.0035	0.0389	0.0024	0.0024	0.0378	0.0374	0.0001	0.0001	0	7.559e-05	0	0.0018	2.788e-05	0.0031	0.0389	0.0012	0.0012	0.0006	0.0019	0.0375	0.0011	0.0010	0.0330	0.0313	2.406e-05	0	0	0	0.0004	0	0	0	0.0005	0.0375	0.093	0.31532	T	0.081	0.41742	T	.	.	.	.	.	.	0.010099	0.30071	U	0.264081	0.919386	0.27329	N	.	.	.	2.69	0.12268	T	-3.0	0.62343	D	0.486	0.52029	-1.0118	0.26353	T	0.047	0.19958	T	10	0.0062849224	0.00142	T	.	.	.	0.157	0.40909	.	.	0.419090007872	0.41522	0.14859636114736183	0.14781	0.00935334602833	0.00849	0.445326000452	0.31305	T	.	.	.	-0.437213	0.01343	T	-0.370816	0.36793	T	0.11159114770153	0.13587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.62718	A	.	.	2.425344	0.31191	18.67	0.99728455991350218	0.82549	0.88033	0.47787	D	AEFI	0.753711	0.69381	D	0.406581850665425	0.61784	4.384209	0.379467644466506	0.60300	4.216094	0.00127746037205155	0.08400	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	4.13	0.47661	4.085000	0.57380	1.942000	0.29835	0.527000	0.24520	0.998000	0.41325	0.951000	0.29025	0.976000	0.56436	0.0:0.7943:0.2057:0.0	10.092	0.41629	543	0.72751	.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	726.83	34	chr10	94780535	.	C	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.306;DP=225;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.936;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	5	0	1	0
chr10	95207268	95207268	G	A	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon4:c.G464A:p.R155H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00190166151312	0.0006	0.000599042	0.0005	0.0016	8.654e-05	0	0	0.0004	0.0011	0.0010	0.0004657	72	154602	rs151317777	0.0003	0.0003	0.0003	0.0003	0.0031	0.0003	0.0003	0.0026	0.0024	0.0031	8.944e-05	0.0043	0	1.872e-05	0.0023	5.216e-05	0.0007	0.0011	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0019	0.0017	0.0022	0	0.0002	0.0040	0	0	0.0034	0.0001	0.0019	0.0002	0.055	0.38407	T	0.009	0.66756	D	0.498	0.37115	P	0.121	0.32300	B	.	.	.	.	1	0.08975	N	0.735	0.18861	N	0.96	0.42888	T	-1.34	0.33401	N	0.089	0.06720	-1.0774	0.07861	T	0.054	0.22883	T	9	0.0043457747	0.00088	T	0.001902	0.03351	T	0.031	0.07369	.	.	0.0401082797425	0.02173	0.09309131162575793	0.09241	0.0257875995059	0.02633	.	.	.	0.018464	0.14879	T	-0.693862	0.00040	T	-0.774077	0.02637	T	0.00499786679435847	0.00054	T	0.449255	0.12651	T	0.06342717	0.13353	0.05942555	0.11150	0.06342717	0.13353	0.05942555	0.11149	-3.959	0.23188	T	.	.	0.074	0.05060	B	.;.	.;.	0.125490	0.05223	1.729	0.90724508205206766	0.19974	0.00054	0.00410	N	AEFI	0.019426	0.00673	N	-1.41361941715146	0.02518	0.1113203	-1.58148687116154	0.01768	0.08046752	0.939722072507708	0.27400	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-0.754000	0.04892	.	.	-1.216000	0.01345	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5866:0.0:0.4134:0.0	6.739	0.22615	792	0.45996	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	645.83	34	chr10	95207268	.	G	A	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=251;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.485;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,28:76:99:656,0,1107	5	0	1	0
chr10	95225300	95225300	A	C	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon10:c.A1211C:p.E404A	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0028	0.00259585	0.0016	0.0107	0	0	0	0.0012	0	0	0.0004269	66	154602	rs192368492	0.0006	0.0006	0.0006	0.0006	0.0155	0.0006	0.0005	0.0144	0.0139	0.0155	0.0011	0.0043	0	2.028e-05	0.0035	5.286e-05	0.0017	0.0001	0.0036	0.0036	0.0037	0.0036	0.0121	0.0034	0.0033	0.0112	0.0108	0.0121	0	0.0009	0.0040	0	0	0.0034	0.0001	0.0047	0.0002	0.021	0.49117	D	0.157	0.31730	T	0.943	0.53072	P	0.823	0.59197	P	.	.	.	.	1	0.81001	D	1.555	0.39373	L	2.74	0.11730	T	-4.22	0.75854	D	0.176	0.18920	-1.0469	0.15274	T	0.021	0.08732	T	9	0.007935733	0.00180	T	.	.	.	0.138	0.37187	.	.	0.151104730317	0.14643	0.5705863290589236	0.56986	0.0456167028869	0.04953	.	.	.	0.048698	0.28093	T	-0.548796	0.00297	T	-0.549408	0.17383	T	0.0609642582883751	0.07319	T	0.462854	0.13445	T	0.35552523	0.57494	0.33186227	0.59040	0.35552523	0.57494	0.33186227	0.59040	-7.02	0.54179	T	.	.	0.144	0.31683	B	.;.	.;.	3.340138	0.46023	22.2	0.99444411879572614	0.64921	0.46970	0.27878	N	AEFDBHCI	0.140451	0.26236	N	0.0609814265840518	0.44648	2.735113	-0.0339378956184087	0.38193	2.246696	0.999908853901656	0.45458	0.487112	0.14033	0	0.547309	0.14657	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	2.141000	0.41792	.	.	0.567000	0.28720	0.950000	0.33075	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	5.005	0.13628	789	0.46346	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	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	0.002488	0.000000	0.008772	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	1511.83	33	chr10	95225300	.	A	C	1511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.718;SOR=0.665	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1522,0,1443	5	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1667	564.06	34	chr10	95684564	.	C	T	564.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.6;DP=216;ExcessHet=0.4139;FS=1.963;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=1.33;SOR=0.941	GT:AD:DP:GQ:PL	0/1:18,14:32:99:314,0,512	4	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1667	2543.06	35	chr10	95693676	.	G	A	2543.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.057;DP=342;ExcessHet=0.4139;FS=6.46;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.469;SOR=1.142	GT:AD:DP:GQ:PL	0/1:46,60:106:99:1643,0,1286	4	0	2	0
chr10	96027298	96027298	G	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001159747:exon11:c.G926C:p.R309P,CC2D2B:NM_001349008:exon34:c.G4034C:p.R1345P	.	.	.	.	.	.	.	.	.	.	.	3422059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0538840406667	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs747323227	2.144e-05	2.121e-05	1.269e-05	3.044e-05	0.0004	1.521e-05	1.32e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.27e-07	0	0.0004	1.314e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.999954	0.19072	N	.	.	.	-0.58	0.71425	T	-6.12	0.90060	D	0.646	0.65758	-0.6228	0.63872	T	0.398	0.75009	T	9	0.56301177	0.64894	D	0.053884	0.65644	D	0.357	0.67782	0.665	0.80300	0.513394077459	0.50981	0.6924491600261132	0.69184	0.591526734513	0.54588	0.324688792229	0.14131	T	.	.	.	-0.200396	0.20747	T	-0.235488	0.51238	T	0.755642890930176	0.43603	D	0.772023	0.40277	T	.	.	.	.	.	.	.	.	-13.137	0.89918	D	.	.	0.863	0.80455	P	.;.	.;.	3.844141	0.55645	23.6	0.99598563785941796	0.74042	0.83884	0.42976	D	AEFI	0.566264	0.57232	D	0.292693509318133	0.55778	3.741884	0.222054365572657	0.51072	3.29306	1.07442799099971E-5	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	2.99	0.33673	3.421000	0.52501	2.236000	0.31572	0.676000	0.76740	0.926000	0.32145	1.000000	0.68203	0.969000	0.54022	0.2222:0.0:0.7778:0.0	9.160	0.36180	409	0.82198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001259	0.000000	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	1343.83	102	chr10	96027298	.	G	C	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=282;ExcessHet=0;FS=4.848;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.397;SOR=0.654	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1255	5	0	1	0
chr10	96397278	96397278	G	A	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon11:c.C1292T:p.P431L	.	.	.	.	.	.	.	.	.	.	.	2354812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.558	0.0457160593892	0.0007	.	0.0006	0	0	0	0.0005	0.0011	0	6.314e-05	0.0005498	85	154602	rs142713663	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	2.991e-05	2.239e-05	0.0001	0	0.0008	0	0.0004	0.0002	2.321e-05	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0006	0	0	6.541e-05	0	0	0.0008	0	0.0008	0	0	0.042	0.41637	D	0.057	0.46406	T	1.0	0.90584	D	1.0	0.97372	D	0.000368	0.45194	D	0.000000	1	0.81001	D	2.62	0.76659	M	1.08	0.39401	T	-6.83	0.93020	D	0.951	0.95956	-0.2857	0.75385	T	0.348	0.71241	T	10	0.8410119	0.83257	D	0.045716	0.62114	D	0.558	0.81831	.	.	0.558227216974	0.55483	0.6927088266519533	0.69210	0.667790068816	0.59266	0.490808844566	0.37550	T	0.199845	0.55724	T	-0.0144211	0.49645	T	0.133704	0.79133	D	0.289600729942322	0.24573	T	0.989201	0.96434	D	0.30330613	0.53200	0.23045224	0.48148	0.30330613	0.53200	0.23045224	0.48147	-13.404	0.90959	D	.	.	0.295	0.52606	B	.	.	4.928050	0.81218	27.5	0.99861965297609512	0.94002	0.99073	0.90830	D	AEFDBI	0.929869	0.91629	D	0.766069982098168	0.83945	8.15279	0.628315493904429	0.77004	6.596748	0.999999999999974	0.74766	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.11	5.11	0.69188	9.860000	0.98420	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	17.708	0.88220	534	0.73357	CUB domain|CUB domain|CUB domain|CUB 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	.	.	.	.	.	.	.	.	0.1667	2802.06	33	chr10	96397278	.	G	A	2802.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.96;DP=378;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.58;SOR=0.725	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1502,0,1237	4	0	2	0
chr10	97358959	97358959	G	A	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon29:c.C3392T:p.A1131V,RRP12:NM_001145114:exon30:c.C3509T:p.A1170V,RRP12:NM_015179:exon32:c.C3692T:p.A1231V	.	425	1081	1	0	15	16	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00911007255536	0.0019	0.000399361	0.0023	0	0.0003	0.0001	0.0059	0.0034	0.0011	0.0004	0.0020634	319	154602	rs143870774	0.0017	0.0017	0.0016	0.0017	0.0019	0.0016	0.0016	0.0011	0.0008	0.0001	0.0004	0.0426	0	0.0060	0.0019	0.0006	0.0041	0.0006	0.0020	0.0020	0.0021	0.0019	0.0009	0.0018	0.0018	0.0007	0.0006	0.0002	0	0.0009	0.0484	0.0002	0.0043	0	0.0009	0.0047	0.0002	0.288	0.21144	T	0.337	0.18505	T	0.166	0.28547	B	0.01	0.23607	B	0.000387	0.44960	D	0.228748	0.998741	0.45372	D	1.26	0.31868	L	1.46	0.32238	T	-1.33	0.33598	N	0.193	0.28381	-1.1013	0.03938	T	0.073	0.29578	T	10	0.004717946	0.00099	T	0.00911	0.23965	T	0.031	0.07369	.	.	0.461323234107	0.45759	0.07991919322229345	0.07926	0.160196289548	0.18072	0.377714782953	0.21931	T	0.017847	0.14492	T	-0.499612	0.00574	T	-0.515062	0.20796	T	0.0116000174216999	0.00176	T	0.858514	0.54939	D	0.060066026	0.12282	0.088116296	0.20524	0.060066026	0.12282	0.088116296	0.20524	-4.166	0.26257	T	.	.	0.077	0.11893	B	.;.;.;.	.;.;.;.	3.313190	0.45536	22.1	0.99508031820009402	0.68440	0.92289	0.55369	D	AEFDBI	0.275736	0.39063	N	-0.0386201263912661	0.40113	2.376653	0.0762438512687953	0.43356	2.639114	0.999999875395678	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.049000	0.49560	7.540000	0.60069	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.393000	0.26625	0.0733:0.0:0.9267:0.0	13.816	0.62787	477	0.77662	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	5636.04	38	chr10	97358959	.	G	A	5636.04	.	AC=2;AF=0.167;AN=12;DP=381;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.3;SOR=0.782	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1537	5	1	0	0
chr10	97572532	97572532	C	T	exonic	ANKRD2	.	nonsynonymous SNV	ANKRD2:NM_001291218:exon1:c.C83T:p.T28M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs568513038	7.799e-05	6.554e-05	9.161e-05	6.495e-05	0.0016	6.007e-05	5.382e-05	0.0011	0.0009	0.0016	5.348e-05	0	0	0	0	4.891e-05	3.252e-05	2.136e-05	0.0003	0.0003	0.0004	0.0002	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	844.83	53	chr10	97572532	.	C	T	844.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=259;ExcessHet=0;FS=1.029;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.666;SOR=0.711	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1217	5	0	1	0
chr10	98392430	98392430	A	C	splicing	PYROXD2	NM_032709:exon10:c.1062+2T>G	.	.	.	428	1089	5	0	0	5	0.00229043	1.0000	0.94	.	2523796	Leigh_syndrome	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	8.292e-05	0	0	0	0	0.0001	0	6.222e-05	8.41e-05	13	154602	rs199640378	8.145e-05	8.14e-05	7.764e-05	8.53e-05	0.0023	6.939e-05	6.49e-05	0.0013	0.0011	0.0003	6.709e-05	0	0	0	0.0023	6.835e-05	0.0002	5.798e-05	8.562e-05	8.542e-05	7.725e-05	9.44e-05	0.0001	4.969e-05	3.971e-05	7.918e-05	6.001e-05	2.421e-05	0	0	0	0	0	0	0.0001	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0131164	0.49829	T	-0.0199487	0.69032	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.897913	0.80482	27.3	0.99366369496913998	0.61240	0.98084	0.79462	D	AEFBHCI	.	.	.	1.00836279071477	0.95996	14.18727	0.810581919512467	0.90519	10.44468	0.999999999793016	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.896785	0.56392	5.0	5.0	0.66209	8.728000	0.91213	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	1.0:0.0:0.0:0.0	14.405	0.66648	768	0.49510	.	.	.	.	.	.	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	1044.83	62	chr10	98392430	.	A	C	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=240;ExcessHet=0;FS=2.281;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-2.515;SOR=0.437	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1398	5	0	1	0
chr10	98443214	98443214	C	G	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_000195:exon3:c.G27C:p.E9D,HPS1:NM_001322476:exon3:c.G27C:p.E9D,HPS1:NM_001322477:exon3:c.G27C:p.E9D,HPS1:NM_001322478:exon3:c.G27C:p.E9D,HPS1:NM_001322479:exon3:c.G27C:p.E9D,HPS1:NM_001322480:exon3:c.G27C:p.E9D,HPS1:NM_001322481:exon3:c.G27C:p.E9D,HPS1:NM_001322482:exon3:c.G27C:p.E9D,HPS1:NM_001322490:exon3:c.G27C:p.E9D,HPS1:NM_001322491:exon3:c.G27C:p.E9D,HPS1:NM_001322492:exon3:c.G27C:p.E9D,HPS1:NM_182639:exon3:c.G27C:p.E9D	Hermansky-Pudlak syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	311911	not_specified|not_provided|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0042	0.00459265	0.0016	0.0130	0.0014	0	0	0.0006	0	0.0001	0.0017011	263	154602	rs7914192	0.0009	0.0009	0.0009	0.0008	0.0138	0.0008	0.0008	0.0127	0.0123	0.0138	0.0026	0	0.0001	0	0.0081	0.0004	0.0028	0.0002	0.0040	0.0040	0.0039	0.0042	0.0120	0.0038	0.0037	0.0111	0.0108	0.0120	0	0.0042	0	0	0	0.0034	0.0005	0.0062	0	0.112	0.34621	T	0.041	0.52060	D	0.995	0.77913	D	0.858	0.67921	P	0.000013	0.62929	D	0.111010	0.977656	0.39387	D	2.57	0.75187	M	1.47	0.31987	T	-1.4	0.34596	N	0.171	0.19728	-0.9983	0.30395	T	0.103	0.37919	T	10	0.00729838	0.00166	T	.	.	.	0.144	0.38394	0.397	0.42426	0.252681307341	0.24864	0.5602575712252362	0.55952	0.152108551472	0.17161	0.480261653662	0.36092	T	0.137529	0.47052	T	-0.480947	0.00730	T	-0.452592	0.27410	T	0.0176005658342346	0.00493	T	0.905809	0.66782	D	0.05464702	0.10513	0.07127513	0.15244	0.065598436	0.14035	0.065546155	0.13301	-9.206	0.69921	D	0.2355084455467367	0.31888	0.166	0.36673	B	.;.;.;.	.;.;.;.	2.183723	0.27838	17.60	0.99713304300734629	0.81493	0.75384	0.36907	D	AEFDBCI	0.330109	0.43025	N	0.20853426575813	0.51610	3.341074	0.0948989334595912	0.44291	2.713758	0.998844893951038	0.37800	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.62	0.483	0.16030	0.139000	0.15858	0.177000	0.15587	0.599000	0.40250	0.937000	0.32526	0.935000	0.28640	0.902000	0.43815	0.0:0.5504:0.0:0.4496	8.575	0.32751	807	0.43470	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.045455	0.023098	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1938.83	155	chr10	98443214	.	C	G	1938.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.908;DP=332;ExcessHet=0;FS=1.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.466;SOR=0.83	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1351	5	0	1	0
chr10	99535699	99535699	T	G	exonic	NKX2-3	.	nonsynonymous SNV	NKX2-3:NM_145285:exon2:c.T1073G:p.L358W	.	392	1113	17	0	0	17	0.00757914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.592578763692	0.0009	0.00159744	0.0040	0	0	0.0067	0	0.0054	0.0085	0.0035	0.00163	252	154602	rs151053941	0.0078	0.0077	0.0079	0.0076	0.0083	0.0076	0.0076	0.0081	0.0081	0.0014	0.0022	0.0006	5.619e-05	0.0265	0.0033	0.0083	0.0077	0.0036	0.0064	0.0064	0.0054	0.0074	0.0081	0.0061	0.0059	0.0075	0.0073	0.0009	0.0011	0.0022	0.0012	0	0.0304	0	0.0081	0.0038	0.0041	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001578	0.38612	N	0.179445	0.999995	0.58761	D	1.955	0.52871	M	-3.9	0.96015	D	-3.55	0.68764	D	0.521	0.55106	0.783	0.94203	D	0.841	0.94694	D	10	0.00909999	0.00206	T	0.592579	0.96386	D	0.678	0.88157	.	.	0.944269752372	0.94368	0.6554799917472944	0.65483	.	.	0.868391275406	0.92338	D	0.548031	0.84645	D	-0.132778	0.31047	T	0.0424707	0.73090	D	0.020649831566782	0.00765	T	0.778122	0.41194	T	0.46844074	0.65194	0.6121335	0.77433	0.46844074	0.65195	0.6121335	0.77434	-12.411	0.86795	D	.	.	0.631	0.70162	P	.	.	4.719219	0.75895	26.4	0.96488875591026602	0.29998	0.98631	0.84914	D	AEFDBHCI	0.835384	0.75330	D	0.57741436756974	0.71767	5.701153	0.546857599013741	0.71179	5.615544	0.999999986785329	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.61	4.61	0.56724	4.082000	0.57357	6.000000	0.52472	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.982	0.52417	675	0.60470	.	.	.	.	.	.	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	0.004831	0.012658	0.000000	0.003448	0.000000	0.000000	0.000000	0.022321	0.1667	814.04	33	chr10	99535699	.	T	G	814.04	.	AC=2;AF=0.167;AN=12;DP=159;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.07;SOR=1.071	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	5	1	0	0
chr10	99850742	99850742	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon31:c.A4454G:p.H1485R	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	317681	Dubin-Johnson_syndrome|ABCC2-related_disorder	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0330209178612	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs780026074	3.762e-05	3.762e-05	2.859e-05	4.675e-05	4.496e-05	2.959e-05	2.655e-05	3.459e-05	3.121e-05	0	2.236e-05	0	0	3.744e-05	0	4.496e-05	3.311e-05	0	5.913e-05	5.91e-05	6.422e-05	5.379e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.338e-05	2.412e-05	0	6.544e-05	0	0	0	0	0.0001	0	0	0.011	0.55530	D	0.017	0.60337	D	0.161	0.28372	B	0.081	0.28987	B	0.002327	0.36766	N	0.333505	0.726786	0.33675	D	0.32	0.10341	N	-1.07	0.76948	T	-1.02	0.26843	N	0.25	0.28264	-0.6275	0.63676	T	0.241	0.60929	T	10	0.26639444	0.44144	T	0.033021	0.54684	D	0.361	0.68141	0.528	0.63412	0.802955540247	0.80111	0.5590736203082878	0.55834	0.0652368688882	0.07282	0.36019384861	0.19414	T	0.105339	0.41572	T	-0.190408	0.22199	T	-0.325381	0.41980	T	0.165962114930153	0.18301	T	0.951105	0.81346	D	0.15050434	0.34260	0.15921448	0.37143	0.15050434	0.34260	0.15921448	0.37142	-5.799	0.44566	T	0.2860719272644345	0.38207	0.075	0.05447	B	.;.	.;.	3.127494	0.42246	21.5	0.99023183008822413	0.50634	0.86870	0.46248	D	AEFGBHCI	0.925454	0.90502	D	-0.0659386449843765	0.38893	2.285028	0.13338896060839	0.46268	2.875525	0.999999999875955	0.74766	0.50284	0.20314	0	0.624146	0.53433	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	6.103000	0.71146	4.698000	0.44396	0.688000	0.82842	1.000000	0.71638	0.699000	0.26222	0.824000	0.38829	1.0:0.0:0.0:0.0	14.829	0.69764	730	0.54327	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1706.83	125	chr10	99850742	.	A	G	1706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=293;ExcessHet=0;FS=1.417;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.289;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1276	5	0	1	0
chr10	100329878	100329878	C	A	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon1:c.G63T:p.K21N,PKD2L1:NM_016112:exon1:c.G226T:p.G76C	.	371	1121	29	1	0	31	0.0136384	.	.	.	701136	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0190395566659	0.0041	0.00319489	0.0048	0.0009	0.0036	0.0001	0.0011	0.0058	0.0046	0.0090	0.0047153	729	154602	rs117403721	0.0054	0.0054	0.0052	0.0055	0.0082	0.0053	0.0052	0.0077	0.0075	0.0009	0.0044	0.0145	0	0.0008	0.0047	0.0055	0.0061	0.0082	0.0036	0.0036	0.0036	0.0036	0.0072	0.0033	0.0033	0.0054	0.0047	0.0007	0	0.0043	0.0153	0	0.0007	0.0034	0.0051	0.0024	0.0072	0.004	0.65419	D	0.026	0.55759	D	0.019	0.17989	B	0.019	0.18783	B	0.385893	0.13323	N	0.731827	1	0.08975	N	2.175	0.60977	M	0.24	0.59583	T	-4.23	0.75935	D	0.216	0.24135	-1.0067	0.27943	T	0.068	0.27811	T	10	0.008423835	0.00191	T	0.01904	0.41292	T	0.108	0.30607	.	.	0.594169782683	0.59095	0.5379647314443091	0.53721	0.0728802315948	0.08163	0.318361461163	0.13173	T	0.244	0.61351	T	-0.374388	0.03378	T	-0.306414	0.44044	T	0.0347109965057643	0.02759	T	0.60444	0.22695	T	0.34537587	0.56705	0.23732647	0.49026	0.34537587	0.56705	0.23732647	0.49025	-6.936	0.53566	T	.	.	0.090	0.12465	B	.	.	0.834622	0.12059	8.616	0.47285426592381663	0.03854	0.10713	0.16140	N	AEFBI	0.091783	0.18588	N	-0.741407035168357	0.14869	0.7443333	-0.88933998396654	0.12346	0.6345305	0.0154833805528523	0.12719	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.95	-0.397	0.11804	0.194000	0.16941	-1.528000	0.05238	-0.176000	0.10722	0.057000	0.21666	0.000000	0.08366	0.022000	0.11911	0.1392:0.5447:0.0:0.316	5.054	0.13859	736	0.53558	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.012228	0.005848	0.000000	0.000000	0.009146	0.011364	0.08333	307.83	33	chr10	100329878	.	C	A	307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.618;DP=213;ExcessHet=0;FS=1.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.071;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	0	1	0
chr10	100980601	100980601	G	A	exonic	SEMA4G	.	nonsynonymous SNV	SEMA4G:NM_001203244:exon11:c.G1375A:p.V459I,SEMA4G:NM_017893:exon11:c.G1375A:p.V459I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0226823195711	7.7e-05	0.000399361	0.0004	0.0002	8.637e-05	0	0	4.497e-05	0	0.0027	0.0003687	57	154602	rs144844358	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0032	0.0030	5.974e-05	0.0002	0	0	0	0.0012	6.835e-05	0.0002	0.0035	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	9.694e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	8.82e-05	0	0.0023	0.194	0.31532	T	0.129	0.51112	T	1.0	0.90584	D	0.999	0.92359	D	0.368275	0.13567	N	0.674095	1	0.81001	D	1.455	0.36767	L	2.78	0.11298	T	-0.69	0.19720	N	0.24	0.27077	-1.1602	0.00752	T	0.062	0.25708	T	10	0.017738879	0.00381	T	0.022682	0.45590	T	0.189	0.46613	.	.	0.44143026662	0.43763	0.26811607814268845	0.26724	0.20304463845	0.22720	0.563488304615	0.47760	T	0.096573	0.39852	T	-0.505822	0.00530	T	-0.503346	0.22000	T	0.0812110991605574	0.10142	T	0.728627	0.34357	T	0.07324945	0.16354	0.1059631	0.25483	0.07324945	0.16353	0.1059631	0.25483	-3.386	0.14869	T	.	.	0.117	0.24733	B	.;.;.;.	.;.;.;.	4.137402	0.61958	24.4	0.99786307526168994	0.87219	0.96878	0.71431	D	AEFBCI	0.843133	0.76019	D	0.401680620184757	0.61515	4.353656	0.382180820641627	0.60467	4.234537	0.999531558638399	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.02	4.11	0.47350	7.730000	0.83827	5.668000	0.49244	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0854:0.0:0.9146:0.0	12.010	0.52573	554	0.71839	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1633.83	41	chr10	100980601	.	G	A	1633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=289;ExcessHet=0;FS=2.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-0.235;SOR=0.998	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr10	101006993	101006993	G	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G1175A:p.R392H,LZTS2:NM_001318099:exon5:c.G1835A:p.R612H,LZTS2:NM_001318100:exon5:c.G1835A:p.R612H,LZTS2:NM_032429:exon5:c.G1835A:p.R612H	.	408	1110	4	0	0	4	0.00179856	.	.	.	2754738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0144789807169	0.0004	.	0.0011	0.0004	0	0	0	0.0019	0	0.0008	0.0002846	44	154602	rs145889711	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0063	0.0056	0.0002	0.0003	0.0002	0	0.0001	0.0082	0.0003	0.0007	0.0006	0.0003	0.0003	0.0002	0.0005	0.0009	0.0003	0.0002	0.0006	0.0004	7.217e-05	0	0.0009	0	0	0.0003	0.0068	0.0004	0.0005	0.0004	0.004	0.65419	D	0.259	0.23097	T	0.432	0.35621	B	0.106	0.31143	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	0.66	0.52416	T	-2.19	0.49352	N	0.168	0.17828	-0.9505	0.40885	T	0.119	0.41799	T	10	0.07008067	0.10146	T	0.014479	0.34624	T	0.135	0.36572	.	.	0.484162603407	0.48046	0.4210526837639201	0.42021	0.33147152316	0.35224	0.503728508949	0.39347	T	0.104061	0.41328	T	-0.262547	0.12604	T	-0.252996	0.49522	T	0.0521029643714428	0.05865	T	0.854215	0.54045	D	0.42630795	0.62509	0.22805165	0.47835	0.42630795	0.62510	0.22805165	0.47834	-7.648	0.58645	D	.	.	0.097	0.17785	B	.;.	.;.	4.143125	0.62090	24.4	0.99924255422758768	0.98980	0.91315	0.53286	D	AEFDBCI	0.499663	0.53325	N	0.109992316499031	0.46927	2.925797	0.236487234498482	0.51885	3.367239	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	2.508000	0.45111	7.307000	0.58111	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.667	0.88111	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006633	0.000000	0.006849	0.011696	0.000000	0.008772	0.006369	0.003788	0.1667	2077.06	34	chr10	101006993	.	G	A	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=280;ExcessHet=0.4139;FS=4.289;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.078;SOR=0.418	GT:AD:DP:GQ:PL	0/1:24,43:67:99:1236,0,508	4	0	2	0
chr10	101011756	101011756	G	A	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon14:c.C1939T:p.P647S	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.757	0.04686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.11483	-1.0695	0.09523	T	0.104	0.38218	T	5	0.1710498	0.31802	T	.	.	.	.	.	.	.	0.082315109003	0.07666	0.2317196885003021	0.23086	.	.	0.420015692711	0.27838	T	.	.	.	-0.105417	0.35528	T	-0.389201	0.34645	T	0.823103070259094	0.48004	D	0.756024	0.37907	T	0.060956266	0.12567	0.111249484	0.26834	0.060956266	0.12567	0.111249484	0.26833	0.704	0.00175	T	0.042093098795531234	0.00426	0.088	0.11845	B	.;.	.;.	2.813368	0.37040	20.4	0.781694003484533	0.12185	0.76368	0.37449	D	AEFDGBHCI	.	.	.	-0.208093499306853	0.32801	1.85394	-0.183185047255689	0.32154	1.826514	0.999999999999901	0.74766	0.089122	0.02304	2	0.090787	0.02525	0	0.076361	0.02342	2	0.057841	0.00900	0	0.307577	0.35022	5.3	3.44	0.38486	3.174000	0.50548	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.3135:0.0:0.6865:0.0	5.842	0.17892	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	665.83	34	chr10	101011756	.	G	A	665.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.754;DP=218;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.34;SOR=1.091	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	5	0	1	0
chr10	102416872	102416872	C	T	exonic	PSD	.	nonsynonymous SNV	PSD:NM_002779:exon2:c.G167A:p.R56Q,PSD:NM_001270965:exon3:c.G167A:p.R56Q	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0105776259829	7.7e-05	.	9.173e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs145555113	4.835e-06	4.788e-06	8.237e-06	1.39e-06	2.523e-05	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.523e-05	0	0	3.615e-06	1.67e-05	1.183e-05	6.577e-06	6.568e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.061	0.37118	T	0.334	0.18340	T	0.0	0.02946	B	0.0	0.01387	B	0.058007	0.22436	N	0.299507	1	0.08975	N	0.345	0.11182	N	2.01	0.21291	T	-0.56	0.17003	N	0.07	0.04307	-0.9947	0.31379	T	0.022	0.09513	T	10	0.061458766	0.07708	T	0.010578	0.27281	T	0.031	0.07369	.	.	0.0934897674506	0.08844	0.13521544631936466	0.13445	0.258141226589	0.28371	0.56145632267	0.47473	T	0.026162	0.19419	T	-0.360188	0.04119	T	-0.570518	0.15403	T	0.130159077983956	0.15397	T	0.772323	0.40326	T	0.089858636	0.21009	0.056232598	0.10010	0.089858636	0.21008	0.056232598	0.10010	-4.207	0.26853	T	.	.	0.081	0.08417	B	.;.	.;.	2.670758	0.34820	19.73	0.99808945382714409	0.89264	0.36362	0.25516	N	AEFBI	0.218822	0.34378	N	-0.564126691854034	0.20043	1.053667	-0.398686004644705	0.25036	1.374482	0.0228118147750914	0.13460	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.08	1.99	0.25423	0.772000	0.26309	1.715000	0.28221	0.524000	0.24156	0.316000	0.25468	1.000000	0.68203	0.997000	0.79791	0.3787:0.5404:0.0:0.0808	7.497	0.26661	750	0.51762	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	794.83	39	chr10	102416872	.	C	T	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=258;ExcessHet=0;FS=0.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.376;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	5	0	1	0
chr10	103447301	103447301	G	A	exonic	CALHM2	.	nonsynonymous SNV	CALHM2:NM_015916:exon4:c.C823T:p.R275W	.	420	1087	14	1	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	7.7e-05	0.00199681	0.0010	0.0002	0.0002	0	0	0.0001	0	0.0068	0.0008732	135	154602	rs370784297	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0	5.038e-05	0	0.0014	9.892e-05	0.0005	0.0066	0.0003	0.0003	0.0003	0.0004	0.0085	0.0003	0.0002	0.0064	0.0057	7.214e-05	0	0.0001	0	0	0	0	8.82e-05	0.0005	0.0085	0.007	0.59928	D	0.008	0.67890	D	0.998	0.73220	D	0.764	0.56591	P	0.000022	0.55875	D	0.113847	0.993703	0.42026	D	0.695	0.17993	N	2.16	0.19166	T	-0.88	0.23808	N	0.351	0.43029	-1.0655	0.10432	T	0.085	0.33099	T	10	0.0074653625	0.00170	T	.	.	.	0.135	0.36572	.	.	0.460969658426	0.45724	0.6293661581179711	0.62870	0.784449382396	0.65439	0.523022949696	0.42051	T	0.024396	0.18443	T	-0.427882	0.01527	T	-0.384231	0.35227	T	0.0410869378643372	0.03887	T	0.933507	0.75104	D	0.4605279	0.64704	0.1947734	0.43118	0.4605279	0.64704	0.1947734	0.43117	-5.493	0.41803	T	.	.	0.204	0.43503	B	.;.	.;.	4.596652	0.72755	25.9	0.99915148297823286	0.98309	0.83633	0.42737	D	AEFDGBCI	0.500760	0.53388	D	0.363649136374822	0.59465	4.126003	0.339156152091676	0.57857	3.953194	0.999999925351106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.37	3.27	0.36580	1.936000	0.39812	4.803000	0.44983	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.671000	0.33280	0.0:0.0:0.5603:0.4396	13.169	0.59009	232	0.90957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	2202.83	128	chr10	103447301	.	G	A	2202.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=318;ExcessHet=0;FS=2.314;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.928;SOR=0.671	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr10	103570968	103570968	C	T	exonic	NEURL1	.	nonsynonymous SNV	NEURL1:NM_004210:exon2:c.C182T:p.T61M	.	381	1126	15	0	0	15	0.00661667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00720906252433	.	0.000199681	0.0004	0	0.0002	0	0	0.0002	0	0.0022	0.0003816	59	154602	rs200414040	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	3.826e-05	0	0.0002	0.0026	9.622e-05	0.0004	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.695e-05	0.0014	0.0011	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0025	0.037	0.43085	D	0.065	0.52060	T	0.971	0.57185	D	0.302	0.41118	B	0.000064	0.52346	D	0.165528	0.999986	0.18198	N	1.445	0.36358	L	.	.	.	-1.28	0.34596	N	0.348	0.38950	-1.0457	0.15621	T	0.065	0.26983	T	9	0.019372523	0.00432	T	0.007209	0.19116	T	0.083	0.24192	.	.	0.262679179196	0.25893	0.18010148591389805	0.17929	1.04843531002	0.76047	0.504908204079	0.39512	T	0.052901	0.29294	T	-0.431787	0.01446	T	-0.398867	0.33515	T	0.0314689681577452	0.02221	T	0.951205	0.81406	D	0.07228108	0.16068	0.1244334	0.29992	0.07228108	0.16067	0.1244334	0.29992	-5.103	0.37939	T	.	.	0.076	0.08417	B	.;.	.;.	2.721290	0.35591	19.94	0.99664954574020737	0.78202	0.29606	0.23866	N	AEFDBI	0.355816	0.44741	N	-0.252262292040224	0.31014	1.73485	-0.339918181000423	0.26823	1.484103	0.950456832868798	0.27896	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.7	3.79	0.42757	0.963000	0.28890	1.688000	0.28053	0.524000	0.24156	0.675000	0.28393	0.953000	0.29079	0.058000	0.15825	0.1274:0.6607:0.2119:0.0	11.118	0.47495	83	0.96533	Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1591.83	33	chr10	103570968	.	C	T	1591.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.39;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	5	0	1	0
chr10	104132169	104132169	G	C	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon36:c.C4624G:p.L1542V	.	448	1063	11	0	0	11	0.0051474	.	.	.	723746	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0069	0.00279553	0.0059	0.0016	0.0016	0.0001	0.0185	0.0079	0.0111	0.0013	0.0058861	910	154602	rs117628923	0.0081	0.0083	0.0082	0.0080	0.0093	0.0080	0.0079	0.0091	0.0090	0.0012	0.0019	0.0038	0	0.0144	0.0042	0.0093	0.0070	0.0012	0.0069	0.0069	0.0064	0.0073	0.0104	0.0065	0.0064	0.0098	0.0095	0.0015	0	0.0029	0.0058	0	0.0185	0.0034	0.0104	0.0047	0.0004	0.533	0.06957	T	0.538	0.09829	T	0.016	0.17332	B	0.015	0.17295	B	0.766030	0.06569	N	1.117320	1	0.08975	N	.	.	.	2.43	0.15261	T	-0.92	0.24676	N	0.059	0.03069	-0.9567	0.39789	T	0.018	0.07234	T	10	0.0041635334	0.00082	T	.	.	.	0.078	0.22779	.	.	0.168933306366	0.16529	0.1084092326192951	0.10769	0.135154410635	0.15236	0.33329898119	0.15431	T	0.038538	0.24874	T	-0.638543	0.00085	T	-0.676374	0.07207	T	0.00115991688880688	0.00011	T	0.591241	0.21771	T	0.054739755	0.10543	0.0370163	0.03266	0.06877512	0.15012	0.0370163	0.03266	-3.556	0.17225	T	.	.	0.070	0.03336	B	.	.	0.097533	0.04999	1.555	0.79197822263401085	0.12634	0.04901	0.10649	N	AEFI	0.102194	0.20507	N	-0.913252472871489	0.10531	0.503697	-0.874504713171561	0.12699	0.6547974	0.0233597202525796	0.13501	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	1.65	0.23015	-0.209000	0.09362	-0.313000	0.10024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.889000	0.42754	0.1466:0.1315:0.3395:0.3824	2.002	0.03257	46	0.97728	.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	1906.04	35	chr10	104132169	.	G	C	1906.04	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.74;SOR=1.057	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	5	1	0	0
chr10	104146328	104146328	G	A	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon30:c.C3790T:p.R1264W	.	432	1080	10	0	0	10	0.00460829	.	.	.	2809599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.00869767822352	0.0025	0.000998403	0.0023	0.0007	0.0003	0	0.0051	0.0031	0.0022	0.0021	0.0021863	338	154602	rs148204337	0.0024	0.0024	0.0024	0.0023	0.0026	0.0023	0.0023	0.0025	0.0025	0.0001	0.0004	7.656e-05	5.043e-05	0.0043	0.0010	0.0026	0.0021	0.0021	0.0020	0.0020	0.0021	0.0020	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0007	0	0.0002	0.0052	0.0170	0.0029	0.0024	0.0019	0.029	0.45756	D	0.067	0.44302	T	0.986	0.61523	D	0.646	0.52296	P	0.334881	0.04153	N	1.482540	0.999984	0.26120	N	.	.	.	2.47	0.14783	T	-2.69	0.57435	D	0.207	0.22998	-1.0394	0.17495	T	0.050	0.21222	T	10	0.005390644	0.00118	T	0.008698	0.22976	T	0.103	0.29403	.	.	0.481246930725	0.47757	0.2218161388977383	0.22096	0.464487243268	0.45918	0.209568366408	0.00793	T	0.060838	0.31495	T	-0.518233	0.00450	T	-0.519918	0.20302	T	0.0178767618346566	0.00514	T	0.845215	0.52386	T	0.09859291	0.23256	0.12702441	0.30585	0.09859291	0.23256	0.12702441	0.30584	-7.168	0.55251	T	.	.	0.101	0.17657	B	.	.	3.838964	0.55534	23.6	0.99644806089669891	0.76881	0.52538	0.29155	D	AEFDBIJ	0.319492	0.42288	N	0.280594172697375	0.55164	3.680835	0.300587460168061	0.55574	3.720345	0.00736178628690586	0.11448	0.603402	0.35316	0	0.59043	0.45803	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	6.07	5.0	0.66209	1.774000	0.38203	3.832000	0.40000	0.676000	0.76740	0.841000	0.30301	1.000000	0.68203	0.271000	0.23793	0.0847:0.0:0.6587:0.2566	7.726	0.27928	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.005051	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.08333	1011.83	37	chr10	104146328	.	G	A	1011.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.51;DP=275;ExcessHet=0;FS=5.1;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.15;SOR=1.197	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	5	0	1	0
chr10	104315511	104315511	G	A	exonic	ITPRIP	.	nonsynonymous SNV	ITPRIP:NM_001272012:exon2:c.C541T:p.R181W,ITPRIP:NM_001272013:exon2:c.C541T:p.R181W,ITPRIP:NM_033397:exon3:c.C541T:p.R181W	.	430	1080	11	1	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0306755218873	0.0011	0.00179712	0.0020	9.667e-05	0.0010	0	0.0064	0.0015	0.0033	0.0054	0.0019146	296	154602	rs151176986	0.0020	0.0020	0.0019	0.0021	0.0055	0.0019	0.0019	0.0051	0.0049	0.0002	0.0011	0	2.519e-05	0.0056	0.0014	0.0018	0.0018	0.0055	0.0016	0.0016	0.0013	0.0019	0.0039	0.0014	0.0014	0.0026	0.0021	0.0003	0	0.0024	0	0	0.0058	0.0034	0.0016	0.0014	0.0039	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.914	0.64984	D	0.000451	0.44317	D	0.188338	0.976548	0.25367	N	2.455	0.71248	M	1.74	0.26301	T	-4.27	0.76254	D	0.374	0.44090	-0.9879	0.33126	T	0.096	0.36263	T	10	0.0067732036	0.00154	T	0.030676	0.52936	D	0.146	0.38789	.	.	0.334161072951	0.33023	0.5544097152114268	0.55367	0.694266774681	0.60757	0.535265505314	0.43777	T	0.556955	0.85100	D	-0.384844	0.02903	T	-0.323798	0.42157	T	0.0643895491591312	0.07841	T	0.920508	0.71260	D	0.15818763	0.35601	0.15538894	0.36427	0.15818763	0.35601	0.15538894	0.36426	-6.608	0.51115	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	4.188283	0.63110	24.5	0.99891717176940842	0.96589	0.87875	0.47567	D	AEFDGBCI	0.739746	0.68420	D	0.349294427674438	0.58703	4.044158	0.275779106565319	0.54129	3.578842	0.999993976257333	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.68	2.21	0.27042	1.552000	0.35852	3.349000	0.37769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1048:0.6959:0.1994	12.111	0.53141	140	0.94439	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	1675.83	37	chr10	104315511	.	G	A	1675.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.15;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-2.251;SOR=0.657	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	5	0	1	0
chr10	110887675	110887675	G	A	exonic	PDCD4	.	nonsynonymous SNV	PDCD4:NM_001199492:exon6:c.G524A:p.R175K,PDCD4:NM_014456:exon6:c.G566A:p.R189K,PDCD4:NM_145341:exon7:c.G533A:p.R178K	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0073	0.00219649	0.0057	0.0010	0.0015	0.0001	0.0015	0.0078	0.0011	0.0078	0.0057308	886	154602	rs41292600	0.0075	0.0076	0.0075	0.0075	0.0087	0.0074	0.0074	0.0085	0.0084	0.0013	0.0016	0.0021	2.523e-05	0.0018	0.0035	0.0086	0.0065	0.0087	0.0043	0.0043	0.0045	0.0040	0.0077	0.0040	0.0039	0.0072	0.0070	0.0011	0	0.0014	0.0029	0	0.0015	0.0034	0.0077	0.0014	0.0058	0.866	0.02645	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.000893	0.41231	N	0.306707	0.611103	0.30859	N	-0.885	0.01428	N	1.11	0.38883	T	0.27	0.04613	N	0.211	0.24260	-1.0280	0.21103	T	0.026	0.11264	T	10	0.006033033	0.00135	T	.	.	.	0.031	0.07369	.	.	0.331365685468	0.32749	0.11551021145616212	0.11479	0.0801815698632	0.09021	0.464049398899	0.33865	T	0.086468	0.37731	T	-0.563403	0.00242	T	-0.574104	0.15076	T	0.0080877243915791	0.00096	T	0.789121	0.43226	T	0.13961773	0.32244	0.100998275	0.24165	0.13961773	0.32243	0.100998275	0.24164	-2.422	0.05269	T	.	.	0.057	0.00847	B	.;.;.	.;.;.	2.226593	0.28416	17.79	0.77160864429619147	0.11761	0.83016	0.42171	D	AEFGBI	0.399474	0.47474	N	-0.541337491499308	0.20756	1.096543	-0.296226684923381	0.28223	1.571882	0.999833536559305	0.43792	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	3.87	0.43823	1.529000	0.35602	7.273000	0.57997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.3582:0.0:0.6418:0.0	7.220	0.25160	930	0.16408	.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.015152	0.08333	258.83	37	chr10	110887675	.	G	A	258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=209;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.643;SOR=0.327	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	5	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.08333	1139.83	40	chr10	111078748	.	C	G	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.237;DP=308;ExcessHet=0;FS=4.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.94;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,986	5	0	1	0
chr10	113578074	113578074	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon6:c.C419T:p.S140F,HABP2:NM_004132:exon6:c.C497T:p.S166F	.	.	.	.	.	.	.	.	.	.	.	309526	Factor_VII_Marburg_I_Variant_Thrombophilia	MedGen:CN068943	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0015	0.00219649	0.0012	0.0002	0.0044	0	0	0.0013	0.0033	0	0.0011643	180	154602	rs142936446	0.0014	0.0014	0.0015	0.0014	0.0034	0.0014	0.0014	0.0029	0.0028	0.0002	0.0034	3.826e-05	0	9.36e-05	0.0005	0.0016	0.0016	1.159e-05	0.0013	0.0013	0.0013	0.0012	0.0042	0.0012	0.0011	0.0034	0.0031	0.0003	0	0.0042	0.0003	0	9.422e-05	0	0.0017	0.0024	0	0.705	0.04120	T	0.704	0.05685	T	0.02	0.18235	B	0.017	0.18140	B	0.799929	0.09331	N	0.921364	1	0.08975	N	1.01	0.25309	L	0.52	0.55266	T	-1.81	0.42957	N	0.322	0.36254	-1.0158	0.25078	T	0.050	0.21261	T	10	0.012851387	0.00275	T	.	.	.	0.078	0.22779	.	.	0.430351802785	0.42654	0.48801848392312974	0.48721	0.00964238325982	0.00877	0.270419538021	0.06196	T	0.281899	0.65463	T	-0.50749	0.00519	T	-0.497745	0.22583	T	0.022144407373998	0.00925	T	0.681032	0.28992	T	0.070699215	0.15593	0.0775542	0.17287	0.09281596	0.21785	0.07862842	0.17628	-5.993	0.47117	T	.	.	0.102	0.18122	B	.;.	.;.	1.754809	0.22323	15.57	0.12867999933095539	0.00236	0.02469	0.06929	N	AEFBI	0.401408	0.47591	N	-0.996852897544678	0.08671	0.4074256	-0.954028679916274	0.10830	0.5480017	5.83863823595921E-4	0.07390	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	2.27	0.27501	0.078000	0.14615	2.756000	0.34570	0.599000	0.40250	0.000000	0.06391	0.994000	0.32194	0.344000	0.25523	0.1624:0.4775:0.1188:0.2413	2.155	0.03576	903	0.23940	.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1407.83	37	chr10	113578074	.	C	T	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.615;DP=317;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.666;SOR=0.717	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1380	5	0	1	0
chr10	113614862	113614862	C	T	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon27:c.G3055A:p.A1019T,NRAP:NM_006175:exon27:c.G3058A:p.A1020T,NRAP:NM_001261463:exon28:c.G3163A:p.A1055T,NRAP:NM_198060:exon28:c.G3163A:p.A1055T	.	425	1085	10	2	0	14	0.00641026	.	.	.	712162	not_specified|not_provided|NRAP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	.	0.0050	0.00279553	0.0051	0.0004	0.0072	0.0001	0.0009	0.0073	0.0055	0.0021	0.0051487	796	154602	rs139118719	0.0062	0.0063	0.0061	0.0062	0.0121	0.0061	0.0060	0.0099	0.0090	0.0011	0.0073	0.0079	5.041e-05	0.0005	0.0121	0.0070	0.0062	0.0024	0.0045	0.0045	0.0050	0.0040	0.0074	0.0042	0.0041	0.0064	0.0061	0.0010	0	0.0074	0.0084	0.0002	0.0003	0.0068	0.0069	0.0085	0.0021	0.111	0.51853	T	0.142	0.33894	T	0.018	0.22415	B	0.073	0.35299	B	0.000037	0.55875	D	0.161520	0.99766	0.81001	D	2.335	0.66956	M	0.83	0.47815	T	-1.82	0.65397	N	0.164	0.20925	-0.9606	0.39068	T	0.121	0.42208	T	10	0.009595424	0.00216	T	.	.	.	0.112	0.31546	.	.	0.561829309373	0.55845	0.32912861879030664	0.32825	0.09311429178	0.10522	0.469293773174	0.34583	T	0.045488	0.27138	T	-0.41461	0.01853	T	-0.357947	0.38290	T	0.0260951827841921	0.01419	T	0.888611	0.61875	D	0.14094037	0.32497	0.16774505	0.38681	0.14094037	0.32497	0.16774505	0.38680	-7.538	0.57877	D	.	.	0.111	0.22573	B	.;.;.;.	.;.;.;.	2.798403	0.36809	20.3	0.99786193519641553	0.87219	0.93823	0.59293	D	AEFBI	0.561457	0.56944	D	0.0283614516438598	0.43148	2.61345	0.177607231519528	0.48621	3.075718	0.999984277783332	0.51787	0.497415	0.19182	0	0.563428	0.19063	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.66	4.75	0.59954	2.178000	0.42148	2.232000	0.31540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9303:0.0:0.0697	14.878	0.70144	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.015152	0.009511	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	1442.83	35	chr10	113614862	.	C	T	1442.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=311;ExcessHet=0;FS=2.214;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.683;SOR=0.952	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1435	5	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L,VWA2:NM_001320804: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	.	.	.	.	.	.	.	.	0.283	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	1	0	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr10	114290299	.	G	C	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.28;DP=276;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.063;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	5	0	1	0
chr10	116325076	116325076	G	A	exonic	CCDC172	.	nonsynonymous SNV	CCDC172:NM_198515:exon2:c.G65A:p.R22H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0106685487072	.	.	8.258e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs748847947	6.841e-06	6.84e-06	2.723e-06	1.1e-05	0.0003	3.46e-06	2.52e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0.0003	0	1.656e-05	0	6.573e-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	0.011	0.55530	D	0.021	0.58089	D	0.119	0.26641	B	0.047	0.24832	B	0.013958	0.28682	N	0.304896	0.94508	0.26671	N	2.71	0.79292	M	.	.	.	-1.89	0.44094	N	0.158	0.16447	-0.8824	0.49569	T	0.141	0.46165	T	9	0.12031144	0.22786	T	0.010669	0.27473	T	0.138	0.37187	0.402	0.43245	0.499727662827	0.49609	0.22739541842640978	0.22654	0.273329347669	0.29833	0.421858787537	0.28092	T	0.206434	0.56577	T	-0.314422	0.07364	T	-0.424994	0.30505	T	0.525991260918763	0.33586	D	0.759024	0.38317	T	0.09211276	0.21602	0.07256444	0.15669	0.09211276	0.21602	0.07256444	0.15669	-5.016	0.37013	T	.	.	0.133	0.28807	B	.	.	4.055146	0.60141	24.2	0.99902299918929649	0.97350	0.77623	0.38187	D	AEFDBCI	0.277826	0.39225	N	-0.242625919668485	0.31399	1.760195	-0.236793024660004	0.30228	1.700232	0.996671267570115	0.34917	0.487112	0.14033	0	0.573888	0.26702	0	0.587068	0.30358	0	0.564101	0.26826	0	.	.	5.41	4.51	0.54589	1.693000	0.37360	8.438000	0.77188	0.676000	0.76740	0.137000	0.23458	1.000000	0.68203	0.961000	0.51904	0.0918:0.0:0.9082:0.0	10.207	0.42294	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1653.83	34	chr10	116325076	.	G	A	1653.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=368;ExcessHet=0;FS=3.858;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.526;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	5	0	1	0
chr10	117201263	117201263	T	C	exonic	KCNK18	.	nonsynonymous SNV	KCNK18:NM_181840:exon2:c.T328C:p.C110R	.	420	1094	8	0	0	8	0.00364299	.	.	.	1156357	not_provided|KCNK18-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0063	0.00219649	0.0069	0.0009	0.0010	0	0.0065	0.0109	0.0055	0.0024	0.0068304	1056	154602	rs140325655	0.0086	0.0086	0.0087	0.0085	0.0102	0.0085	0.0084	0.0100	0.0099	0.0010	0.0021	0.0033	0	0.0087	0.0021	0.0102	0.0064	0.0025	0.0063	0.0063	0.0065	0.0060	0.0106	0.0059	0.0058	0.0099	0.0097	0.0014	0.0362	0.0031	0.0040	0	0.0061	0	0.0106	0.0033	0.0023	0.003	0.68238	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	1.48	0.31731	T	-5.98	0.89334	D	0.872	0.86941	-0.5045	0.68486	T	0.186	0.53631	T	10	0.016736627	0.00354	T	.	.	.	0.573	0.82686	.	.	0.585653999902	0.58239	0.9517833255522399	0.95162	0.358648049777	0.37576	0.570605754852	0.48764	T	0.803978	0.95031	D	-0.102132	0.36070	T	0.0909063	0.76305	D	0.0567539157303191	0.06647	T	0.845715	0.52486	T	0.9314662	0.94383	0.9018107	0.95105	0.9314662	0.94384	0.9018107	0.95105	-15.184	0.96270	D	.	.	0.949	0.86762	P	.	.	4.898542	0.80495	27.3	0.99738502454754385	0.83337	0.97039	0.72336	D	AEFBI	0.763960	0.70090	D	0.798126045455176	0.85989	8.743628	0.701540775448447	0.82495	7.781324	0.892836857960694	0.25892	0.487112	0.14033	0	0.586423	0.34054	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.786000	0.68654	5.934000	0.51367	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.731	0.62272	735	0.53711	Potassium channel domain	.	.	.	.	rs140325655	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.015152	0.08333	2455.83	187	chr10	117201263	.	T	C	2455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.533;DP=379;ExcessHet=0;FS=1.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.193;SOR=0.565	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr10	117548154	117548154	G	A	exonic	EMX2	.	nonsynonymous SNV	EMX2:NM_001165924:exon2:c.G496A:p.D166N	Schizencephaly	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.012970262883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.535902	0.81001	D	.	.	.	.	.	.	.	.	.	0.105	0.08925	-0.8994	0.48054	T	0.144	0.46623	T	6	0.16659477	0.31104	T	0.01297	0.31999	T	.	.	.	.	0.774191030368	0.77212	.	.	.	.	.	.	.	.	.	.	-0.166278	0.25801	T	-0.476623	0.24807	T	0.301076658192931	0.25049	T	0.636736	0.25039	T	.	.	.	.	.	.	.	.	-3.267	0.13315	T	.	.	0.072	0.04080	B	.;.	.;.	1.415902	0.18319	13.67	0.99842102540392286	0.92229	0.92815	0.56613	D	AEFDBCI	0.121918	0.23681	N	-0.0171804518557059	0.41078	2.450713	0.154771919535207	0.47396	2.970398	0.999999990446405	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	1.976000	0.40202	8.607000	0.77753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.187	0.93634	752	0.51611	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1427.06	36	chr10	117548154	.	G	A	1427.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.502;DP=268;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.777;SOR=0.703	GT:AD:DP:GQ:PL	0/1:29,31:60:99:746,0,715	4	0	2	0
chr10	119030318	119030318	-	CCA	exonic	NANOS1	.	nonframeshift insertion	NANOS1:NM_199461:exon1:c.517_518insCCA:p.T176_S177insT	Spermatogenic failure 12, Autosomal dominant	372	1147	3	0	0	3	0.00130605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879248027	0.0004	0.0004	0.0004	0.0005	0.0062	0.0004	0.0004	0.0052	0.0048	0.0036	0.0014	0.0028	0.0062	0	0.0004	0.0002	0.0009	0.0015	0.0015	0.0015	0.0016	0.0015	0.0045	0.0014	0.0013	0.0030	0.0026	0.0033	0	0.0013	0.0041	0.0045	0	0	0.0003	0.0025	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	105.24	30	chr10	119030318	.	G	GCCA	105.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.253;DP=65;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.05;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,25	5	0	1	0
chr10	119677179	119677179	C	T	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon4:c.C1625T:p.A542V	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	956002	not_provided|Dilated_cardiomyopathy_1HH|Myofibrillar_myopathy_6|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.0121564339071	.	.	4.957e-05	0	0.0003	0	0	4.509e-05	0	0	3.88e-05	6	154602	rs770920565	2.873e-05	2.873e-05	2.586e-05	3.163e-05	0.0002	2.151e-05	1.908e-05	8.861e-05	6.427e-05	2.987e-05	0.0002	0	0	0	0.0002	2.518e-05	4.967e-05	1.159e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	6.546e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	6.546e-05	0	0	0	0	5.879e-05	0	0	0.065	0.36310	T	0.18	0.29442	T	0.023	0.18885	B	0.013	0.16460	B	0.079069	0.02334	N	1.778870	1	0.08975	N	0	0.06538	N	-0.83	0.74159	T	-0.53	0.16393	N	0.036	0.01068	-0.9547	0.40149	T	0.173	0.51611	T	10	0.03840652	0.02257	T	0.012156	0.30482	T	0.113	0.31778	0.132	0.03662	0.718724004411	0.71625	0.17337426672339964	0.17257	0.0684803718917	0.07664	0.21866902709	0.01234	T	0.059476	0.31125	T	-0.391852	0.02617	T	-0.574943	0.15000	T	0.0206084726331408	0.00761	T	0.552145	0.19060	T	0.01661879	0.00210	0.031508386	0.01749	0.01661879	0.00210	0.031508386	0.01748	-4.655	0.32855	T	0.10993972292819694	0.09235	0.074	0.05017	B	.	.	-0.722378	0.01269	0.066	0.92087276727433853	0.21436	0.15164	0.18776	N	AEFDGBCI	.	.	.	-1.39119691505376	0.02720	0.1205039	-1.42827522466776	0.02972	0.1377852	0.999487478241731	0.39952	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-4.55	0.03197	-0.436000	0.06992	0.492000	0.18911	-0.770000	0.03453	0.000000	0.06391	0.058000	0.21979	0.052000	0.15357	0.2828:0.3929:0.3243:0.0	7.899	0.28888	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	.	.	.	.	.	.	.	.	0.08333	1997.83	52	chr10	119677179	.	C	T	1997.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.145;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-1.18;SOR=0.735	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	62.12	107	chr10	119898750	.	C	G	62.12	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.588;DP=684;ExcessHet=0;FS=259.845;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.47;SOR=8.349	GT:AD:DP:GQ:PL	./.:101,0:101:0:0,0,1707	2	0	1	3
chr10	120513963	120513963	G	A	exonic	PLPP4	.	nonsynonymous SNV	PLPP4:NM_001030059:exon3:c.G218A:p.R73Q,PLPP4:NM_001318166:exon3:c.G218A:p.R73Q,PLPP4:NM_001318167:exon3:c.G218A:p.R73Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.00997361547022	.	.	4.968e-05	0	8.639e-05	0	0.0002	0	0	0.0002	4.53e-05	7	154602	rs748975790	8.141e-05	8.14e-05	7.487e-05	8.802e-05	7.734e-05	6.935e-05	6.487e-05	6.41e-05	5.91e-05	0	4.474e-05	0	2.519e-05	0.0003	0	7.734e-05	9.934e-05	6.961e-05	3.946e-05	3.941e-05	3.856e-05	4.04e-05	5.881e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	9.455e-05	0	5.881e-05	0	0	0.402	0.11156	T	0.296	0.27145	T	0.015	0.17086	B	0.004	0.10090	B	0.028101	0.25656	N	0.452394	0.999987	0.81001	D	.	.	.	-0.88	0.74689	T	-1.2	0.30555	N	0.342	0.38335	-0.8122	0.54417	T	0.230	0.59620	T	10	0.15988871	0.30030	T	0.009974	0.25946	T	0.215	0.50805	.	.	0.72062673939	0.71816	0.6800527502229324	0.67944	0.415885500396	0.42230	0.617542862892	0.55382	T	0.055847	0.30120	T	-0.244631	0.14764	T	-0.352503	0.38918	T	0.0745144516183429	0.09270	T	0.915108	0.69728	D	0.11141179	0.26328	0.09891263	0.23598	0.11141179	0.26327	0.09891263	0.23597	-6.945	0.53632	T	.	.	0.083	0.11654	B	.;.;.	.;.;.	3.724029	0.53232	23.3	0.99553253630953831	0.71273	0.67171	0.33336	D	AEFGCIJ	0.477765	0.52061	N	-0.00579540946318031	0.41592	2.490581	0.218991808750893	0.50900	3.277488	0.994284150774611	0.33568	0.706298	0.61202	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	4.949000	0.63298	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8581:0.1419	15.064	0.71648	771	0.49057	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2173.06	35	chr10	120513963	.	G	A	2173.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.17;DP=383;ExcessHet=0.4139;FS=1.592;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.428;SOR=0.815	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1181,0,1521	4	0	2	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.08333	1333.83	33	chr10	122216727	.	C	T	1333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.021;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.264;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1166	5	0	1	0
chr10	122299068	122299068	G	A	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon9:c.G728A:p.G243E,BTBD16:NM_144587:exon9:c.G725A:p.G242E	.	.	.	.	.	.	.	.	.	.	.	2427456	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00687834795004	.	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs147355457	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0002	4.474e-05	0	0	0	0.0005	0.0004	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0	0	6.545e-05	0	0	0	0	0.0004	0	0	0.004	0.65419	D	0.01	0.65728	D	0.001	0.07471	B	0.001	0.04355	B	0.341349	0.13958	N	0.670224	1	0.08975	N	0	0.06538	N	2.32	0.16640	T	0.03	0.06612	N	0.236	0.26596	-0.9875	0.33224	T	0.024	0.10103	T	10	0.108103156	0.20109	T	0.006878	0.18205	T	0.076	0.22200	0.618	0.75232	0.392239652056	0.38839	0.3833543667523381	0.38250	0.185083578846	0.20806	0.289548695087	0.08857	T	0.003989	0.03403	T	-0.537885	0.00345	T	-0.692338	0.06255	T	0.0824964435143897	0.10303	T	0.333467	0.07063	T	0.04853685	0.08476	0.083011426	0.18992	0.04853685	0.08476	0.083011426	0.18992	-1.807	0.02530	T	.	.	0.152	0.33664	B	.	.	2.663716	0.34712	19.70	0.97665538600689539	0.35224	0.08966	0.14813	N	ALL	0.248333	0.36875	N	-0.695412048822511	0.16151	0.8203963	-0.523508841820222	0.21515	1.164282	0.999999999999886	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.607795	0.38427	0	0.56214	0.19341	0	.	.	5.66	5.66	0.87293	2.756000	0.47228	.	.	-0.110000	0.15115	0.962000	0.33725	1.000000	0.68203	0.139000	0.19909	0.0:0.0:0.1703:0.8297	9.992	0.41048	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	.	.	.	.	.	.	.	.	0.08333	1036.83	33	chr10	122299068	.	G	A	1036.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.167;DP=254;ExcessHet=0;FS=5.883;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.417;SOR=0.287	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1097	5	0	1	0
chr10	122579682	122579682	T	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_001320644:exon10:c.T784A:p.Y262N,DMBT1:NM_001377530:exon10:c.T784A:p.Y262N,DMBT1:NM_004406:exon10:c.T784A:p.Y262N,DMBT1:NM_007329:exon10:c.T784A:p.Y262N,DMBT1:NM_017579:exon10:c.T784A:p.Y262N	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.00559105	0.0027	0	8.657e-05	0	0	0	0.0011	0.0193	0.0010758	28	26028	rs201456825	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0175	5.975e-05	0.0002	0	5.038e-05	0	0.0005	1.259e-05	0.0015	0.0186	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0002	0	0.0002	0	0	2.94e-05	0.0009	0.0207	0.325	0.13349	T	0.313	0.19539	T	0.003	0.41496	B	0.017	0.38566	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	1.73	0.26445	T	-0.25	0.11008	N	0.085	0.11054	-0.9596	0.39255	T	0.013	0.05177	T	9	0.0069723427	0.00159	T	.	.	.	0.025	0.05312	.	.	0.104622674875	0.10061	0.09361959604983935	0.09293	0.0816263488406	0.09187	0.503531813622	0.39319	T	0.018238	0.14740	T	-0.673427	0.00052	T	-0.727134	0.04459	T	0.0305798334706229	0.02080	T	0.0817918	0.00624	T	0.03247091	0.03279	0.042905748	0.05217	0.03247091	0.03278	0.042905748	0.05217	-2.171	0.50124	T	.	.	0.083	0.21766	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.682613	0.00202	0.003	0.44129467927241522	0.03371	0.00844	0.03380	N	AEFBI	0.076482	0.15388	N	-2.40409834480792	0.00026	0.001143536	-2.43944287999266	0.00032	0.001401808	0.999846902823751	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.07	-8.14	0.00941	-7.571000	0.00043	.	.	-1.932000	0.00498	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4369:0.0:0.1901:0.3729	5.245	0.14810	832	0.38914	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like 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	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3212.83	36	chr10	122579682	.	T	A	3212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.497;DP=401;ExcessHet=0;FS=5.423;MLEAC=1;MLEAF=0.083;MQ=56.19;MQRankSum=-5.93;QD=18.9;ReadPosRankSum=0.781;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	5	0	1	0
chr10	122579683	122579683	A	G	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_001320644:exon10:c.A785G:p.Y262C,DMBT1:NM_001377530:exon10:c.A785G:p.Y262C,DMBT1:NM_004406:exon10:c.A785G:p.Y262C,DMBT1:NM_007329:exon10:c.A785G:p.Y262C,DMBT1:NM_017579:exon10:c.A785G:p.Y262C	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00559105	0.0027	0	8.64e-05	0.0001	0	0	0.0011	0.0193	0.0010758	28	26028	rs199611914	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0175	5.975e-05	0.0002	0	5.038e-05	0	0.0005	1.259e-05	0.0015	0.0186	0.0007	0.0007	0.0004	0.0011	0.0207	0.0006	0.0006	0.0174	0.0162	0.0001	0	0.0002	0	0.0002	0	0	2.94e-05	0.0009	0.0207	0.175	0.22400	T	0.177	0.30143	T	0.867	0.64070	P	0.77	0.59150	P	.	.	.	.	0.973673	0.39043	D	2.44	0.70756	M	1.6	0.28604	T	-1.66	0.41809	N	0.196	0.28965	-0.8665	0.50790	T	0.071	0.29001	T	9	0.009742469	0.00219	T	.	.	.	0.098	0.28162	.	.	0.137902524267	0.13322	0.11397847306384282	0.11325	0.340323633844	0.35971	0.500779211521	0.38937	T	0.078338	0.35868	T	-0.644662	0.00078	T	-0.685815	0.06634	T	0.0489055190853179	0.05306	T	0.112489	0.00893	T	0.058377314	0.11738	0.10576186	0.25429	0.058377314	0.11737	0.10576186	0.25429	-5.962	0.76956	T	.	.	0.420	0.68813	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.151696	0.05437	1.910	0.81666837710790441	0.13799	0.01281	0.04472	N	AEFBI	0.074985	0.15045	N	-1.4256618569216	0.02415	0.1066133	-1.64254689613368	0.01415	0.06396438	0.990602129350424	0.32208	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.07	-6.64	0.01635	-4.399000	0.00275	.	.	-2.627000	0.00229	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.424:0.3155:0.2604:0.0	7.858	0.28655	832	0.38914	.;.;.;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR domain|SRCR-like 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	0.000532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3212.83	36	chr10	122579683	.	A	G	3212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=401;ExcessHet=0;FS=5.423;MLEAC=1;MLEAF=0.083;MQ=56.19;MQRankSum=-5.93;QD=18.9;ReadPosRankSum=1.07;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	5	0	1	0
chr10	122633295	122633295	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon36:c.G4231A:p.E1411K,DMBT1:NM_017579:exon48:c.G6085A:p.E2029K,DMBT1:NM_001320644:exon49:c.G6112A:p.E2038K,DMBT1:NM_007329:exon49:c.G6115A:p.E2039K,DMBT1:NM_001377530:exon52:c.G6502A:p.E2168K	.	.	.	.	.	.	.	.	.	.	.	3207553	DMBT1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.187	0.0137601425903	0.0024	0.00239617	0.0007	0.0089	0.0002	0	0	0	0	0	0.0007244	112	154602	rs112645522	0.0003	0.0003	0.0003	0.0002	0.0090	0.0003	0.0002	0.0081	0.0078	0.0090	0.0003	0	0	0	0.0007	2.698e-06	0.0012	5.797e-05	0.0025	0.0025	0.0026	0.0023	0.0087	0.0023	0.0022	0.0079	0.0076	0.0087	0	0.0006	0	0	0	0	0	0.0028	0	0.117	0.32769	T	0.039	0.51112	D	0.527	0.41330	P	0.181	0.41929	B	0.391867	0.13244	U	0.604873	1	0.08975	N	0.71	0.18616	N	2.25	0.17761	T	-1.75	0.50666	N	0.53	0.56403	-1.0781	0.07721	T	0.048	0.20434	T	10	0.0064243674	0.00146	T	0.01376	0.33405	T	0.187	0.46274	.	.	0.236278675362	0.23226	0.49736474730303243	0.49657	0.539597992946	0.51187	0.512709677219	0.40601	T	0.028962	0.20860	T	-0.460703	0.00973	T	-0.427722	0.30195	T	0.0420147288614007	0.04057	T	0.755224	0.38363	T	0.05478315	0.10559	0.08867343	0.20691	0.05478315	0.10559	0.08867343	0.20690	-6.187	0.47818	T	.	.	0.204	0.59091	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.265460	0.28955	17.97	0.99508494803114966	0.68499	0.38144	0.25922	N	AEFDBI	0.133062	0.25259	N	-0.339240211854061	0.27670	1.519972	-0.354431894277662	0.26372	1.456256	0.76719612996331	0.23608	0.553676	0.25195	0	0.626922	0.53725	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.28	3.4	0.38031	1.069000	0.30252	.	.	-0.677000	0.04263	0.827000	0.30089	0.730000	0.26410	0.155000	0.20479	0.0839:0.1522:0.7639:0.0	8.767	0.33868	571	0.70397	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2227.06	33	chr10	122633295	.	G	A	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.42;DP=370;ExcessHet=0.4139;FS=3.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.02;SOR=0.469	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1142,0,1693	4	0	2	0
chr10	122636044	122636044	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4331A:p.R1444H,DMBT1:NM_017579:exon49:c.G6185A:p.R2062H,DMBT1:NM_001320644:exon50:c.G6212A:p.R2071H,DMBT1:NM_007329:exon50:c.G6215A:p.R2072H,DMBT1:NM_001377530:exon53:c.G6602A:p.R2201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00319302564903	0.0015	0.00259585	0.0004	0.0048	0	0	0	4.496e-05	0	6.058e-05	0.0004204	65	154602	rs199856639	0.0001	0.0001	0.0001	0.0001	0.0040	0.0001	0.0001	0.0034	0.0032	0.0040	0.0002	0.0001	0	0	0.0005	1.259e-05	0.0005	2.319e-05	0.0012	0.0012	0.0013	0.0011	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0.0012	0	0	0	1.47e-05	0.0014	0	0.669	0.04575	T	1.0	0.01155	T	0.008	0.14655	B	0.005	0.11217	B	0.732048	0.06376	N	1.172560	1	0.08975	N	0.725	0.18768	N	2.21	0.18414	T	2.87	0.00269	N	0.081	0.16308	-0.9660	0.38013	T	0.020	0.08453	T	10	0.0071528256	0.00163	T	0.003193	0.06996	T	0.021	0.04004	.	.	0.348101942276	0.34424	0.10967633304233301	0.10896	0.174241393469	0.19618	0.396219611168	0.24542	T	0.012147	0.10726	T	-0.683747	0.00046	T	-0.754528	0.03313	T	0.014381836168468	0.00289	T	0.0137986	0.00087	T	0.01975987	0.00514	0.025866369	0.00648	0.01975987	0.00513	0.025866369	0.00647	-3.786	0.20595	T	.	.	0.068	0.02639	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.488622	0.01904	0.158	0.1544210803512206	0.00378	0.00323	0.01694	N	AEFBI	0.031850	0.03484	N	-1.38940946166204	0.02737	0.1212714	-1.38817605753912	0.03377	0.1574118	0.00598563775109804	0.11096	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.37	-1.47	0.08312	-0.143000	0.10278	.	.	-0.046000	0.17342	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3911:0.0:0.226:0.3829	3.400	0.06897	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	2195.06	34	chr10	122636044	.	G	A	2195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=288;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.443;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,37:71:99:1114,0,820	4	0	2	0
chr10	122636161	122636161	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4448A:p.R1483Q,DMBT1:NM_017579:exon49:c.G6302A:p.R2101Q,DMBT1:NM_001320644:exon50:c.G6329A:p.R2110Q,DMBT1:NM_007329:exon50:c.G6332A:p.R2111Q,DMBT1:NM_001377530:exon53:c.G6719A:p.R2240Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00415114490683	0.0010	0.00159744	0.0003	0.0031	0	0	0.0002	0	0	0	0.0002587	40	154602	rs201259183	8.552e-05	8.551e-05	9.938e-05	7.152e-05	0.0024	7.313e-05	6.817e-05	0.0020	0.0018	0.0024	0.0001	0	0	7.491e-05	0.0002	1.439e-05	0.0002	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0024	0.0029	0	6.536e-05	0	0	9.429e-05	0	1.47e-05	0.0014	0	0.825	0.05341	T	0.742	0.05274	T	0.994	0.66517	D	0.436	0.45556	B	0.390462	0.04474	N	1.517430	1	0.08975	N	0.96	0.23930	L	2.26	0.17596	T	0.06	0.08495	N	0.028	0.01274	-0.9992	0.30143	T	0.018	0.07518	T	10	0.005709946	0.00127	T	0.004151	0.09963	T	0.041	0.10877	.	.	0.0806252709748	0.07271	0.08278961387479095	0.08213	0.167019727277	0.18835	0.18999171257	0.00225	T	0.014141	0.12098	T	-0.730691	0.00024	T	-0.826355	0.01328	T	0.0164118218151024	0.00408	T	0.171583	0.03035	T	0.022094391	0.00850	0.027538057	0.00915	0.022094391	0.00849	0.027538057	0.00915	-1.357	0.01496	T	.	.	0.115	0.23041	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.433939	0.02088	0.195	0.73026961422913816	0.10181	0.00717	0.03025	N	AEFGBI	0.050958	0.08956	N	-2.08683654121325	0.00137	0.005859077	-2.18710016082021	0.00120	0.005257791	0.999999360340619	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	-11.0	0.00133	-2.521000	0.01027	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.577000	0.30821	0.2768:0.0799:0.4063:0.237	3.885	0.08599	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2770.06	34	chr10	122636161	.	G	A	2770.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.2;DP=341;ExcessHet=0.4139;FS=1.763;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.04;SOR=0.868	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1442,0,1037	4	0	2	0
chr10	122951983	122951983	C	T	exonic	C10orf88	.	nonsynonymous SNV	C10orf88:NM_024942:exon3:c.G412A:p.E138K	.	573	945	3	1	0	5	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00485322877286	0.0007	0.000599042	0.0015	0	0.0007	0	0	0.0021	0.0038	0.0020	0.0011902	184	154602	rs150582565	0.0010	0.0010	0.0009	0.0011	0.0114	0.0009	0.0009	0.0091	0.0083	3.187e-05	0.0008	0.0076	0	0	0.0114	0.0008	0.0015	0.0020	0.0010	0.0010	0.0011	0.0009	0.0027	0.0009	0.0008	0.0021	0.0019	7.224e-05	0	0.0027	0.0043	0	9.457e-05	0.0034	0.0012	0.0024	0.0010	0.007	0.59928	D	0.009	0.66756	D	0.513	0.37366	P	0.096	0.30313	B	0.032546	0.25014	U	0.271410	0.987171	0.40547	D	1.765	0.45800	L	.	.	.	-3.42	0.67241	D	0.534	0.56231	-0.5133	0.68165	T	0.234	0.60063	T	9	0.006667465	0.00151	T	0.004853	0.12161	T	0.106	0.30130	.	.	0.496957384516	0.49330	0.5614624265725	0.56073	0.148761713675	0.16777	.	.	.	0.340236	0.70928	T	-0.278585	0.10817	T	-0.197572	0.54878	T	0.0409505058151343	0.03863	T	0.757724	0.38135	T	0.35918906	0.57774	0.31503505	0.57492	0.35918906	0.57774	0.31503505	0.57491	-6.238	0.48229	T	.	.	0.210	0.43775	B	.	.	3.332817	0.45886	22.2	0.99777545990360517	0.86433	0.94415	0.61092	D	AEFDBI	0.585688	0.58402	D	0.223032507511305	0.52316	3.406625	0.275391759491298	0.54107	3.576679	0.999999599990043	0.74766	0.643511	0.44296	0	0.627608	0.54475	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.73	4.73	0.59485	4.903000	0.62964	.	.	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	15.472	0.75176	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.005435	0.002924	0.050000	0.000000	0.009202	0.000000	0.08333	276.83	26	chr10	122951983	.	C	T	276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.035;DP=122;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.77;SOR=1.104	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	5	0	1	0
chr10	122990362	122990362	A	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon6:c.A1066C:p.K356Q	.	506	1012	4	0	0	4	0.00197239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	.	0.0004	0	0.0037	0	0	0	0	0.0009	5.17e-05	8	154602	rs759581703	7.636e-05	7.868e-05	5.583e-05	9.782e-05	0.0012	6.392e-05	5.931e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0012	6.037e-05	0.0001	0.0003	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	.	.	.	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030785054	0.01207	T	.	.	.	.	.	.	.	.	.	0.1839233886505689	0.18311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550545	0.18982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.	.	3.496916	0.48908	22.7	0.99149545716180632	0.53765	0.92411	0.55650	D	AEFDBI	0.301201	0.40978	N	0.227461860354794	0.52533	3.426923	0.291158319244811	0.55023	3.665791	0.999965265329729	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.92	4.92	0.64147	2.195000	0.42310	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8431:0.1568:0.0:0.0	10.937	0.46461	945	0.12563	.	.	.	.	.	.	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	558.83	42	chr10	122990362	.	A	C	558.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.061;DP=223;ExcessHet=0;FS=3.062;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.468;SOR=0.303	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	5	0	1	0
chr10	123137633	123137633	G	A	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.G976A:p.A326T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0025	0.00499201	0.0031	0.0344	0.0045	0	0	0.0001	0.0044	0	0.0012807	198	154602	rs371335454	0.0006	0.0006	0.0007	0.0005	0.0179	0.0006	0.0006	0.0166	0.0161	0.0179	0.0023	0	2.642e-05	0	0.0006	0.0001	0.0015	2.684e-05	0.0050	0.0050	0.0051	0.0048	0.0165	0.0047	0.0045	0.0154	0.0150	0.0165	0	0.0037	0	0	0	0	2.941e-05	0.0052	0	0.144	0.25255	T	0.497	0.11299	T	0.349	0.33622	B	0.07	0.27859	B	0.000005	0.62929	D	0.000000	0.919769	0.36643	D	0.6	0.15550	N	-2.91	0.91696	D	-0.6	0.17834	N	0.294	0.33250	-0.1248	0.79522	T	0.430	0.77219	T	10	0.004415095	0.00090	T	.	.	.	0.315	0.63694	.	.	0.722340994916	0.71989	0.6094840894012252	0.60880	0.678397583926	0.59883	0.735640525818	0.72332	T	0.104847	0.41478	T	-0.282326	0.10423	T	-0.162062	0.58165	T	0.0161288583793228	0.00390	T	0.676832	0.28555	T	0.09205334	0.21587	0.14201182	0.33800	0.09205334	0.21586	0.14201182	0.33799	-6.203	0.47947	T	.	.	0.074	0.04889	B	.	.	3.761601	0.53977	23.4	0.99609583920949507	0.74694	0.94951	0.62900	D	AEFDBHCI	0.560751	0.56902	D	-0.151783548947576	0.35160	2.015967	0.0175936624653418	0.40532	2.420447	0.999999522174248	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.66	4.66	0.57857	1.326000	0.33341	8.580000	0.77642	0.656000	0.54149	0.986000	0.36153	1.000000	0.68203	0.949000	0.49496	0.0:0.2048:0.7952:0.0	13.479	0.60780	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001535	0.000000	0.002778	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2672.06	34	chr10	123137633	.	G	A	2672.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.627;DP=307;ExcessHet=0.4139;FS=3.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.69;SOR=1.023	GT:AD:DP:GQ:PL	0/1:25,44:69:99:1081,0,542	4	0	2	0
chr10	123842401	123842401	G	A	exonic	CPXM2	.	nonsynonymous SNV	CPXM2:NM_198148:exon4:c.C601T:p.R201C	.	433	1085	4	0	0	4	0.00183993	.	.	.	3660965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.885	0.515309354027	7.7e-05	.	2.471e-05	0	8.64e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs137943270	3.078e-05	3.147e-05	2.178e-05	3.988e-05	0.0005	2.347e-05	2.095e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	2.518e-05	6.623e-05	2.319e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.54e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.54e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	3.86	0.95841	H	-4.84	0.98229	D	-4.38	0.77143	D	0.87	0.86725	1.072	0.98642	D	0.971	0.99085	D	10	0.955436	0.94903	D	0.515309	0.95364	D	0.885	0.96651	.	.	0.989626038119	0.98950	0.740920254335583	0.74037	0.887556139356	0.70071	0.759340643883	0.75832	T	0.788998	0.94499	D	0.300063	0.82973	D	0.48673	0.94352	D	0.995369851589203	0.87292	D	0.988801	0.96179	D	0.5019062	0.67206	0.31693715	0.57672	0.5019062	0.67207	0.31693715	0.57671	-12.618	0.87730	D	.	.	0.480	0.63637	A	.	.	5.029371	0.83633	28.1	0.99933719858477044	0.99488	0.87278	0.46769	D	AEFBI	0.722914	0.67269	D	0.698917103729601	0.79559	7.103768	0.564119224823894	0.72386	5.801575	0.896329874876261	0.25975	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	4.25	0.49658	2.416000	0.44298	5.303000	0.48242	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.7091:0.2909	12.633	0.56025	856	0.34373	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3274.04	112	chr10	123842401	.	G	A	3274.04	.	AC=2;AF=0.167;AN=12;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.23;SOR=0.884	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	1	0	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,38:121:99:0|1:124989533_G_A:1326,0,3257:124989533	0	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:88,29:117:99:729,0,2925	1	0	5	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	567.06	102	chr10	124989579	.	G	C	567.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.07;DP=647;ExcessHet=0.4139;FS=32.288;MLEAC=2;MLEAF=0.167;MQ=53.74;MQRankSum=-7.507;QD=2.36;ReadPosRankSum=-3.028;SOR=0.747	GT:AD:DP:GQ:PL	0/1:111,21:132:99:273,0,2971	4	0	2	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,21:154:99:0|1:124994489_T_G:481,0,5516:124994489	1	0	5	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,25:160:99:0|1:124994489_T_G:631,0,5568:124994489	1	0	5	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,25:158:99:0|1:124994489_T_G:637,0,5484:124994489	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,29:151:99:0|1:124994523_G_A:822,0,4893:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:112,32:144:99:486,0,3325	0	0	6	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1627.61	163	chr10	124994563	.	A	T	1627.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.781;DP=939;ExcessHet=3.1439;FS=59.81;MLEAC=4;MLEAF=0.333;MQ=56.33;MQRankSum=-6.314;QD=2.9;ReadPosRankSum=3.01;SOR=4.512	GT:AD:DP:GQ:PL	0/1:111,35:146:99:519,0,3275	2	0	4	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,35:145:99:0|1:124994577_C_A:1139,0,4443:124994577	0	0	6	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36,CTBP2:NM_022802:exon5:c.2228_2259del:p.G743Afs*36,CTBP2:NM_001321013:exon6:c.608_639del:p.G203Afs*36,CTBP2:NM_001083914:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290214:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290215:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321012:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321014:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001329:exon7:c.608_639del:p.G203Afs*36	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.79	80	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	33.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.981;DP=609;ExcessHet=0;FS=7.371;MLEAC=1;MLEAF=0.083;MQ=56.64;MQRankSum=-7.097;QD=0.28;ReadPosRankSum=-2.17;SOR=1.879	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	5	0	1	0
chr10	124998036	124998036	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G697A:p.V233M,CTBP2:NM_022802:exon4:c.G2113A:p.V705M,CTBP2:NM_001321013:exon5:c.G493A:p.V165M,CTBP2:NM_001083914:exon6:c.G493A:p.V165M,CTBP2:NM_001290214:exon6:c.G493A:p.V165M,CTBP2:NM_001290215:exon6:c.G493A:p.V165M,CTBP2:NM_001321012:exon6:c.G493A:p.V165M,CTBP2:NM_001321014:exon6:c.G493A:p.V165M,CTBP2:NM_001329:exon6:c.G493A:p.V165M	.	409	1100	12	1	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0947644967317	7.7e-05	.	4.331e-05	0	0	0	0	6.263e-05	0	6.248e-05	5.17e-05	8	154602	rs74442958	2.669e-05	2.668e-05	2.724e-05	2.614e-05	8.117e-05	1.999e-05	1.755e-05	3.766e-05	2.662e-05	0	4.475e-05	0	0	0	0	2.608e-05	1.656e-05	8.117e-05	3.941e-05	3.94e-05	3.852e-05	4.034e-05	0.0001	1.715e-05	1.129e-05	2.26e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.878e-05	0	0	0.138	0.48186	T	0.25	0.40426	T	0.363	0.65571	B	0.175	0.55432	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.715	0.18665	N	-1.75	0.84267	D	-1.83	0.44284	N	0.763	0.80375	0.175	0.85483	D	0.501	0.81144	D	10	0.77381384	0.77295	D	0.094764	0.76310	D	0.608	0.84613	.	.	0.779464580674	0.77742	0.7649687908423062	0.76445	1.99083872869	0.93746	0.807924032211	0.83173	D	0.329296	0.69961	T	0.0588544	0.59470	T	0.0226106	0.71799	D	0.312028567183885	0.25497	T	0.927907	0.73422	D	0.28631294	0.51647	0.24527591	0.50012	0.28631294	0.51647	0.24527591	0.50011	-7.832	0.59920	D	.	.	0.718	0.73683	P	.;.;.;.;.;.	.;.;.;.;.;.	4.904502	0.80643	27.4	0.99718627852449637	0.81843	0.91770	0.54226	D	AEFDGBCI	0.749029	0.69059	D	0.225605343922995	0.52442	3.418394	0.328547364310565	0.57223	3.88734	0.999999999999998	0.74766	0.78354	0.99714	0	0.550933	0.16991	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	4.836000	0.45242	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	87.7	111	chr10	124998036	.	C	T	87.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.402;DP=696;ExcessHet=0;FS=16.447;MLEAC=1;MLEAF=0.1;MQ=58.03;MQRankSum=-5.29;QD=0.67;ReadPosRankSum=-3.448;SOR=2.268	GT:AD:DP:GQ:PL	./.:127,0:127:0:0,0,3044	4	0	1	1
chr10	124998040	124998040	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G693C:p.Q231H,CTBP2:NM_022802:exon4:c.G2109C:p.Q703H,CTBP2:NM_001321013:exon5:c.G489C:p.Q163H,CTBP2:NM_001083914:exon6:c.G489C:p.Q163H,CTBP2:NM_001290214:exon6:c.G489C:p.Q163H,CTBP2:NM_001290215:exon6:c.G489C:p.Q163H,CTBP2:NM_001321012:exon6:c.G489C:p.Q163H,CTBP2:NM_001321014:exon6:c.G489C:p.Q163H,CTBP2:NM_001329:exon6:c.G489C:p.Q163H	.	404	1111	5	2	0	9	0.00403407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.142134209224	.	.	8.714e-06	0	0	0	0	1.573e-05	0	0	6.5e-06	1	154602	rs775975320	1.574e-05	1.573e-05	1.498e-05	1.651e-05	2.987e-05	1.048e-05	8.76e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.979e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.57480	T	0.149	0.53426	T	0.913	0.64070	P	0.83	0.66185	P	0.000001	0.62929	D	0.101360	0.99708	0.47407	D	0.715	0.18665	N	-1.78	0.84267	D	-3.21	0.64826	D	0.582	0.61596	0.084	0.83885	D	0.572	0.84545	D	10	0.6701838	0.70666	D	0.142134	0.82452	D	0.636	0.86078	0.394	0.41935	0.880865803775	0.87969	0.8666686377607329	0.86631	1.9200269807	0.92987	0.711090385914	0.68751	T	0.514408	0.82896	D	0.110733	0.65429	D	-0.0787158	0.64999	T	0.97025990486145	0.68882	D	0.920608	0.71304	D	0.47036386	0.65312	0.33841702	0.59620	0.47036386	0.65313	0.33841702	0.59619	-8.75	0.68924	D	.	.	0.686	0.72380	P	.;.;.;.;.;.	.;.;.;.;.;.	4.385503	0.67640	25.1	0.99485946367516176	0.67180	0.84089	0.43174	D	AEFDGBCI	0.547523	0.56119	D	0.28889792576844	0.55585	3.722561	0.271039989478986	0.53856	3.552559	0.999999772718871	0.74766	0.78354	0.99714	0	0.550933	0.16991	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	4.73	3.81	0.43020	0.905000	0.28127	2.709000	0.34221	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.6939:0.1461:0.16	6.724	0.22533	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	88.7	117	chr10	124998040	.	C	G	88.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.089;DP=705;ExcessHet=0;FS=12.735;MLEAC=1;MLEAF=0.1;MQ=58.78;MQRankSum=-7.506;QD=0.76;ReadPosRankSum=-2.652;SOR=2.28	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	4	0	1	1
chr10	124998076	124998076	C	T	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon4:c.G657A:p.W219X,CTBP2:NM_022802:exon4:c.G2073A:p.W691X,CTBP2:NM_001321013:exon5:c.G453A:p.W151X,CTBP2:NM_001083914:exon6:c.G453A:p.W151X,CTBP2:NM_001290214:exon6:c.G453A:p.W151X,CTBP2:NM_001290215:exon6:c.G453A:p.W151X,CTBP2:NM_001321012:exon6:c.G453A:p.W151X,CTBP2:NM_001321014:exon6:c.G453A:p.W151X,CTBP2:NM_001329:exon6:c.G453A:p.W151X	.	401	1112	7	2	0	11	0.0049217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.944	0.95139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	10.873956	0.99866	50	0.99735839356865152	0.83119	0.91019	0.52702	D	AEFDGBCI	0.374544	0.45940	N	0.893973894747138	0.91462	10.89553	0.75931065535564	0.86851	9.023663	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.906000	0.50954	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	98.7	130	chr10	124998076	.	C	T	98.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.489;DP=800;ExcessHet=0;FS=15.206;MLEAC=1;MLEAF=0.1;MQ=58.59;MQRankSum=-8.526;QD=0.76;ReadPosRankSum=1.53;SOR=2.654	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	4	0	1	1
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998077	.	C	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.906;DP=835;ExcessHet=1.383;FS=18.751;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.16;QD=3.43;ReadPosRankSum=1.92;SOR=2.215	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:138,0:138:0:.:.:0,0,2635:.	0	0	3	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1432.82	131	chr10	124998080	.	G	C	1432.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.443;DP=833;ExcessHet=1.383;FS=18.548;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.19;QD=3.42;ReadPosRankSum=2.2;SOR=2.22	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:135,0:135:0:.:.:0,0,2307:.	0	0	3	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1441.82	129	chr10	124998087	.	T	C	1441.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.763;DP=839;ExcessHet=1.383;FS=18.297;MLEAC=4;MLEAF=0.667;MQ=58.22;MQRankSum=-8.13;QD=3.47;ReadPosRankSum=3.18;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:136,0:136:0:.:.:0,0,2671:.	0	0	3	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1429.82	129	chr10	124998090	.	G	A	1429.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.079;DP=845;ExcessHet=1.383;FS=18.634;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.13;QD=3.4;ReadPosRankSum=3.54;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:133,0:133:0:.:.:0,0,2340:.	0	0	3	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998111	.	A	C	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.488;DP=845;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.27;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.85;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:140,0:140:0:.:.:0,0,2953:.	0	0	3	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998113	.	A	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.104;DP=843;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.51;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:147,0:147:0:.:.:0,0,2870:.	0	0	3	3
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	45.69	144	chr10	125003062	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.274;DP=740;ExcessHet=0.4139;FS=16.691;MLEAC=2;MLEAF=0.25;MQ=57.04;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.39;SOR=1.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:120,9:129:24:0|1:125003062_T_A:0,24,5012:125003062	2	0	2	2
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	45.69	140	chr10	125003065	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.037;DP=736;ExcessHet=0.4139;FS=16.543;MLEAC=2;MLEAF=0.25;MQ=57.06;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.12;SOR=1.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:120,9:129:24:0|1:125003062_T_A:0,24,5012:125003062	2	0	2	2
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	112.7	60	chr10	125003357	.	G	A	112.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.14;DP=330;ExcessHet=0;FS=3.429;MLEAC=1;MLEAF=0.1;MQ=58.91;MQRankSum=-7.902;QD=1.76;ReadPosRankSum=-3.656;SOR=1.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7:64:99:0|1:125003350_T_C:122,0,2342:125003350	4	0	1	1
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	121.97	60	chr10	125003368	.	G	C	121.97	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.36;DP=328;ExcessHet=0;FS=4.757;MLEAC=1;MLEAF=0.1;MQ=58.99;MQRankSum=-6.728;QD=2;ReadPosRankSum=-1.279;SOR=1.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,7:61:99:0|1:125003350_T_C:131,0,2246:125003350	4	0	1	1
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	154.85	60	chr10	125003381	.	AC	A	154.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.662;DP=313;ExcessHet=0;FS=4.69;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-6.875;QD=3.1;ReadPosRankSum=-0.858;SOR=1.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:99:0|1:125003381_AC_A:165,0,1777:125003381	5	0	1	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	72.7	68	chr10	125003410	.	C	G	72.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.078;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.49;MQRankSum=-6.58;QD=1.62;ReadPosRankSum=2.71;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,7:45:82:82,0,1143	4	0	1	1
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3	268.59	62	chr10	125003448	.	G	C	268.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.52;DP=253;ExcessHet=1.383;FS=1.013;MLEAC=3;MLEAF=0.3;MQ=58.86;MQRankSum=-5.588;QD=2.05;ReadPosRankSum=1.01;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:99:0|1:125003425_G_C:207,0,1197:125003425	2	0	3	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	187.59	63	chr10	125003450	.	G	A	187.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.524;DP=245;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.3;MQ=58.98;MQRankSum=-5.498;QD=1.47;ReadPosRankSum=0.804;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,5:33:99:0|1:125003425_G_C:126,0,1161:125003425	2	0	3	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	184.99	64	chr10	125003453	.	CG	C	184.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.666;DP=242;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.25;MQ=58.98;MQRankSum=-5.498;QD=1.45;ReadPosRankSum=0.473;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,5:32:99:0|1:125003425_G_C:129,0,1119:125003425	3	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	193.58	64	chr10	125003460	.	G	T	193.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.866;DP=238;ExcessHet=1.383;FS=2.229;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.54;ReadPosRankSum=0.21;SOR=0.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:0|1:125003425_G_C:135,0,1035:125003425	2	0	3	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	185.02	65	chr10	125003466	.	G	T	185.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.714;DP=234;ExcessHet=1.383;FS=2.453;MLEAC=3;MLEAF=0.25;MQ=58.97;MQRankSum=-5.388;QD=1.45;ReadPosRankSum=-0.064;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:0|1:125003425_G_C:135,0,1035:125003425	3	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.02	64	chr10	125003468	.	C	A	191.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.988;DP=236;ExcessHet=1.383;FS=1.049;MLEAC=3;MLEAF=0.25;MQ=59.14;MQRankSum=-5.588;QD=1.52;ReadPosRankSum=-0.2;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:125003425_G_C:138,0,993:125003425	3	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	196.58	64	chr10	125003470	.	G	T	196.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.418;DP=235;ExcessHet=1.383;FS=1.042;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.57;ReadPosRankSum=-0.496;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:125003425_G_C:138,0,993:125003425	2	0	3	1
chr10	125003481	125003481	G	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon2:c.C274T:p.Q92X,CTBP2:NM_022802:exon2:c.C1690T:p.Q564X,CTBP2:NM_001321013:exon3:c.C70T:p.Q24X,CTBP2:NM_001083914:exon4:c.C70T:p.Q24X,CTBP2:NM_001290214:exon4:c.C70T:p.Q24X,CTBP2:NM_001290215:exon4:c.C70T:p.Q24X,CTBP2:NM_001321012:exon4:c.C70T:p.Q24X,CTBP2:NM_001321014:exon4:c.C70T:p.Q24X,CTBP2:NM_001329:exon4:c.C70T:p.Q24X	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000116	0.50451	D	0.191765	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.87	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	11.606090	0.99947	54	0.99834869762320466	0.91628	0.98687	0.85586	D	AEFDBHCI	0.360541	0.45047	N	1.17611805747486	0.99300	21.77164	1.01261087230075	0.98856	19.63335	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	9.818000	0.98285	11.569000	0.93274	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	130.83	56	chr10	125003481	.	G	A	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=226;ExcessHet=0;FS=5.383;MLEAC=1;MLEAF=0.083;MQ=58.3;MQRankSum=-5.121;QD=4.67;ReadPosRankSum=-1.531;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5:28:99:0|1:125003481_G_A:141,0,921:125003481	5	0	1	0
chr10	125003490	125003490	-	TCCTC	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon2:c.264_265insGAGGA:p.I89Efs*8,CTBP2:NM_022802:exon2:c.1680_1681insGAGGA:p.I561Efs*8,CTBP2:NM_001321013:exon3:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001083914:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001290214:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001290215:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001321012:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001321014:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001329:exon4:c.60_61insGAGGA:p.I21Efs*8	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	130.79	54	chr10	125003490	.	T	TTCCTC	130.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=212;ExcessHet=0;FS=12.935;MLEAC=1;MLEAF=0.083;MQ=58.81;MQRankSum=-5.121;QD=4.67;ReadPosRankSum=-2.399;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5:28:99:0|1:125003481_G_A:141,0,910:125003481	5	0	1	0
chr10	125003492	125003492	-	AAATT	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon2:c.262_263insAATTT:p.G88Efs*9,CTBP2:NM_022802:exon2:c.1678_1679insAATTT:p.S560Kfs*9,CTBP2:NM_001321013:exon3:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001083914:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001290214:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001290215:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001321012:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001321014:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001329:exon4:c.58_59insAATTT:p.G20Efs*9	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	133.79	54	chr10	125003492	.	C	CAAATT	133.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=203;ExcessHet=0;FS=12.715;MLEAC=1;MLEAF=0.083;MQ=58.79;MQRankSum=-5.021;QD=4.96;ReadPosRankSum=-1.621;SOR=3.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,5:27:99:0|1:125003481_G_A:144,0,889:125003481	5	0	1	0
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039033	.	T	A	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.369;DP=377;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.33;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.5;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1298:.	4	0	2	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039035	.	T	C	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.356;DP=372;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.3;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.57;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1298:.	4	0	2	0
chr10	126504772	126504772	G	A	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.C428T:p.T143M,C10orf90:NM_001350921:exon4:c.C719T:p.T240M,C10orf90:NM_001350922:exon4:c.C719T:p.T240M,C10orf90:NM_001350923:exon4:c.C719T:p.T240M	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0266579189022	0.0016	0.00159744	0.0030	0.0006	0.0011	0	0.0029	0.0031	0	0.0084	0.0026132	404	154602	rs144072115	0.0020	0.0020	0.0018	0.0022	0.0068	0.0019	0.0019	0.0063	0.0061	0.0003	0.0009	0.0165	0	0.0027	0.0048	0.0014	0.0022	0.0068	0.0017	0.0017	0.0015	0.0019	0.0081	0.0016	0.0015	0.0061	0.0054	0.0002	0	0.0007	0.0161	0	0.0016	0.0068	0.0019	0.0009	0.0081	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.000000	0.997952	0.44899	D	2.14	0.59869	M	1.01	0.41058	T	-2.07	0.47344	N	0.904	0.90704	-0.4724	0.69641	T	0.297	0.66811	T	10	0.008338183	0.00189	T	0.026658	0.49548	D	0.308	0.62947	.	.	0.337378238328	0.33340	0.8006920385490915	0.80023	0.443981540537	0.44317	.	.	.	0.181446	0.56499	T	-0.0907442	0.37953	T	0.100183	0.76919	D	0.0248992615588746	0.01260	T	0.880112	0.63332	D	0.3205254	0.54685	0.36609587	0.61945	0.3205254	0.54685	0.36609587	0.61945	-5.148	0.38408	T	.	.	0.375	0.65015	A	.;.;.;.	.;.;.;.	4.741981	0.76480	26.5	0.99921796245930383	0.98787	0.93111	0.57356	D	AEFBCI	0.597289	0.59113	D	0.751882106050055	0.83026	7.910889	0.718453721140968	0.83782	8.112535	0.999995620992818	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	6.092000	0.71061	11.474000	0.92868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	17.721	0.88258	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	1263.83	35	chr10	126504772	.	G	A	1263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=367;ExcessHet=0;FS=1.679;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.897;SOR=0.616	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	5	0	1	0
chr10	126974604	126974604	C	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377544:exon3:c.C152A:p.A51D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	32.07	1	chr10	126974604	.	C	A	32.07	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,61	4	0	1	1
chr10	127737277	127737277	G	A	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.G4A:p.A2T	.	.	.	.	.	.	.	.	.	.	.	3432693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.827338608696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.569e-07	9.577e-06	1.493e-06	0	9.482e-07	0	0	.	.	0	0	0	0	0	0	9.482e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.015	0.61642	D	0.901	0.49677	P	0.333	0.42166	B	0.000076	0.52346	U	0.075866	0.93811	0.37214	D	2.83	0.82355	M	-3.61	0.95043	D	-1.66	0.39692	N	0.329	0.36989	0.273	0.87121	D	0.696	0.89514	D	10	0.57783985	0.65680	D	0.827339	0.98660	D	0.358	0.67872	0.129	0.03412	0.737537335342	0.73519	0.3642433520262273	0.36338	0.570319911439	0.53190	0.726639151573	0.71015	T	0.039095	0.25071	T	0.0948953	0.63736	D	-0.101466	0.63285	T	0.71764349937439	0.41581	D	0.290471	0.05292	T	0.065114684	0.13883	0.16004187	0.37296	0.065114684	0.13883	0.16004187	0.37295	-3.857	0.21659	T	.	.	0.119	0.24532	B	.	.	1.839180	0.23369	15.99	0.9969293993434355	0.80044	0.47354	0.27964	N	AEFDBCI	0.184844	0.31217	N	-0.00922532005273684	0.41436	2.478496	-0.0295892245417451	0.38385	2.260735	0.99999398785555	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	2.59	0.30091	1.202000	0.31878	1.218000	0.24956	0.583000	0.30283	0.876000	0.30908	0.973000	0.29867	0.622000	0.31948	0.0:0.0:0.7986:0.2014	9.989	0.41032	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.83	26	chr10	127737277	.	G	A	34.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.425;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:127737277_G_A:45,0,540:127737277	5	0	1	0
chr10	127737280	127737280	A	C	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.A7C:p.T3P	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.730595700972	.	0.00439297	0.0007	0	0	0	.	0.0012	0	0.0005	0.0002652	41	154602	rs553970386	0.0011	0.0010	0.0012	0.0010	0.0010	0.0011	0.0010	0.0009	0.0009	0.0001	4.172e-05	0	0	0.0100	0.0005	0.0010	0.0013	0.0004	0.0014	0.0014	0.0012	0.0016	0.0011	0.0012	0.0012	0.0009	0.0009	0.0002	0	0.0001	0	0	0.0106	0	0.0011	0.0009	0.0006	0.155	0.24183	T	0.171	0.30339	T	0.171	0.28729	B	0.032	0.22131	B	0.306344	0.14510	U	0.616872	1	0.08975	N	1.39	0.34934	L	-3.17	0.93054	D	-1.56	0.37759	N	0.165	0.17416	-0.4324	0.70988	T	0.520	0.82081	D	10	0.008882493	0.00201	T	0.730596	0.97831	D	0.249	0.55752	.	.	0.42069145522	0.41685	0.23750145731972208	0.23665	1.6452578664	0.89422	0.561486840248	0.47478	T	0.025693	0.19163	T	-0.275417	0.11160	T	-0.187408	0.55833	T	0.029065887338693	0.01847	T	0.214779	0.02659	T	0.12799919	0.29936	0.16853191	0.38820	0.12799919	0.29936	0.16853191	0.38819	-2.749	0.07724	T	.	.	0.074	0.04889	B	.	.	1.415519	0.18313	13.67	0.91611941438998401	0.20895	0.07389	0.13409	N	AEFDBCI	0.216649	0.34187	N	-0.897550482708039	0.10900	0.523231	-0.948086538793386	0.10967	0.555838	0.999830745653195	0.43792	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	0.281	0.14938	0.570000	0.23357	0.060000	0.14119	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.452000	0.27939	0.277:0.1942:0.3319:0.1969	0.407	0.00405	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.83	26	chr10	127737280	.	A	C	34.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.911;DP=135;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.255;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:127737277_G_A:45,0,540:127737277	5	0	1	0
chr10	128104971	128104971	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.T5789C:p.L1930S,MKI67:NM_002417:exon13:c.T6869C:p.L2290S	.	435	1071	15	1	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00159744	0.0017	0.0005	0.0088	0	0	0.0004	0.0011	0.0047	0.0015977	247	154602	rs142585399	0.0008	0.0008	0.0007	0.0009	0.0083	0.0007	0.0007	0.0076	0.0074	8.961e-05	0.0083	0	0	0	0.0017	0.0002	0.0010	0.0049	0.0008	0.0008	0.0008	0.0009	0.0052	0.0007	0.0007	0.0043	0.0040	0.0004	0	0.0052	0	0	0	0	0.0003	0.0005	0.0029	0.051	0.45039	T	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.042810	0.01910	N	3.759080	1	0.08975	N	2.325	0.66631	M	3.23	0.06931	T	-2.04	0.51157	N	0.354	0.39558	-0.8799	0.49770	T	0.036	0.15683	T	10	0.0048911273	0.00104	T	.	.	.	0.228	0.52768	.	.	0.235664433957	0.23186	0.12604868837369124	0.12530	0.18284391176	0.20557	0.213060647249	0.00948	T	0.019472	0.15507	T	-0.502251	0.00555	T	-0.48483	0.23935	T	0.0580150899496101	0.06852	T	0.306769	0.05902	T	0.04376589	0.06878	0.0493814	0.07536	0.04376589	0.06878	0.0493814	0.07535	-7.497	0.57589	T	.	.	0.186	0.40197	B	.;.	.;.	0.625634	0.09942	6.698	0.98408434888710794	0.41148	0.04019	0.09450	N	AEFBCI	0.032231	0.03598	N	-0.660365436877656	0.17158	0.8805847	-0.928975025558241	0.11412	0.5812225	0.999765059627799	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.6	-2.11	0.06787	-1.854000	0.01757	-15.955000	0.00333	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3607:0.1582:0.3251:0.1561	1.041	0.01461	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	2513.83	176	chr10	128104971	.	A	G	2513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.882;DP=942;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.376;SOR=0.684	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	5	0	1	0
chr10	128105589	128105589	T	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.A5171C:p.Q1724P,MKI67:NM_002417:exon13:c.A6251C:p.Q2084P	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0140867334427	0.0005	0.000998403	0.0009	9.61e-05	0.0010	0	0.0002	0.0011	0.0011	0.0012	0.0007697	119	154602	rs146580693	0.0008	0.0008	0.0007	0.0009	0.0064	0.0008	0.0007	0.0048	0.0042	0.0001	0.0007	0	0	9.36e-05	0.0064	0.0008	0.0008	0.0014	0.0007	0.0007	0.0006	0.0008	0.0013	0.0006	0.0006	0.0009	0.0009	7.216e-05	0.0033	0.0013	0	0	0	0	0.0011	0.0005	0.0006	0.08	0.35537	T	0.025	0.58089	D	0.998	0.77913	D	0.994	0.82059	D	0.369430	0.13550	N	0.625713	1	0.08975	N	2.455	0.71248	M	3.87	0.03597	T	-2.77	0.59226	D	0.404	0.46649	-1.0543	0.13225	T	0.034	0.14464	T	10	0.025486767	0.00741	T	0.014087	0.33970	T	0.220	0.51569	.	.	0.306695030598	0.30287	0.04278496532439751	0.04223	0.320030098083	0.34209	0.246007561684	0.03359	T	0.068078	0.33364	T	-0.361264	0.04059	T	-0.327086	0.41794	T	0.05535333263228	0.06416	T	0.443756	0.14398	T	0.28777495	0.51786	0.35991952	0.61442	0.28777495	0.51786	0.35991952	0.61442	-7.859	0.60105	D	.	.	0.397	0.59404	A	.;.	.;.	1.749154	0.22250	15.54	0.99513041134906233	0.68739	0.20679	0.21129	N	AEFBCI	0.097128	0.19596	N	-0.0804404569548163	0.38250	2.23745	-0.298049594435815	0.28162	1.568084	0.99999949977282	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.95	3.95	0.44952	-0.071000	0.11465	-0.611000	0.08222	0.665000	0.62972	0.006000	0.17386	0.000000	0.08366	0.039000	0.14166	0.0:0.0952:0.0:0.9048	8.353	0.31477	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1926.83	143	chr10	128105589	.	T	G	1926.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.584;DP=707;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.553;SOR=0.567	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	5	0	1	0
chr10	128106841	128106841	T	C	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.A3919G:p.T1307A,MKI67:NM_002417:exon13:c.A4999G:p.T1667A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0034929646171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.553	0.09329	T	0.806	0.45231	P	0.431	0.47059	B	0.010757	0.01285	N	4.636190	1	0.08975	N	-0.69	0.01958	N	4.52	0.01997	T	-0.35	0.13805	N	0.084	0.16447	-0.9628	0.38645	T	0.004	0.01226	T	10	0.045612723	0.03653	T	0.003493	0.07908	T	0.046	0.12618	0.301	0.26843	0.0954503805726	0.09146	0.05080985663444235	0.05022	0.0481426784639	0.05259	0.203610956669	0.00569	T	0.004516	0.03917	T	-0.422716	0.01644	T	-0.844979	0.01027	T	0.0489225909113884	0.05310	T	0.245375	0.03772	T	0.01290455	0.00044	0.018156977	0.00048	0.01290455	0.00044	0.018156977	0.00048	-0.789	0.00794	T	.	.	0.085	0.10304	B	.;.	.;.	-0.550999	0.01710	0.125	0.12780308798300505	0.00232	0.00855	0.03408	N	AEFBCI	0.015078	0.00270	N	-1.63556059930611	0.01097	0.0476318	-1.7161709605766	0.01068	0.04793177	0.99863198146876	0.37351	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.56	-4.27	0.03486	-0.442000	0.06943	-1.897000	0.04533	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2805:0.2642:0.4553	5.378	0.15479	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2773.83	149	chr10	128106841	.	T	C	2773.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=753;ExcessHet=0;FS=1.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.335;SOR=0.82	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr10	129759232	129759243	TGCTGAAGGTTG	-	exonic	MGMT	.	nonframeshift deletion	MGMT:NM_002412:exon4:c.305_316del:p.L103_V106del	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0003	0	0	0	0	0	0	0.0019	0.0001153	3	26028	rs556530054	0.0001	0.0001	5.717e-05	0.0002	0.0019	0.0001	9.567e-05	0.0017	0.0016	0	0	0	2.519e-05	0	0	0	3.311e-05	0.0019	5.908e-05	5.905e-05	5.138e-05	6.712e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1324.79	95	chr10	129759231	.	CTGCTGAAGGTTG	C	1324.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=271;ExcessHet=0;FS=0.785;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.684;SOR=0.785	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1331	5	0	1	0
chr10	129837960	129837960	G	A	exonic	EBF3	.	nonsynonymous SNV	EBF3:NM_001375392:exon15:c.C1544T:p.A515V,EBF3:NM_001005463:exon16:c.C1625T:p.A542V,EBF3:NM_001375379:exon16:c.C1760T:p.A587V,EBF3:NM_001375391:exon16:c.C1652T:p.A551V	Hypotonia, ataxia, and delayed development syndrome, Autosomal dominant	422	1098	2	0	0	2	0.000909918	0.9951	0.874	.	3225818	Hypotonia,_ataxia,_and_delayed_development_syndrome	MONDO:MONDO:0015021,MedGen:C4310618,OMIM:617330,Orphanet:658843	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.256	.	7.7e-05	.	2.489e-05	0	0	0	0	1.51e-05	0	0.0001	1.94e-05	3	154602	rs148915750	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	4.579e-05	3.272e-05	0	0	0	2.519e-05	0	0.0002	0	8.28e-05	9.275e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.024	0.47745	D	0.207	0.27591	T	0.002	0.09854	B	0.011	0.15521	B	0.001837	0.37892	N	0.288769	1	0.81001	D	1.395	0.35261	L	0.96	0.42888	T	-1.76	0.41618	N	0.628	0.64223	-1.0636	0.10878	T	0.107	0.38979	T	10	0.29544163	0.47113	T	0.014909	0.35329	T	0.256	0.56694	.	.	0.539293284284	0.53580	0.5777298879343512	0.57701	0.762839780935	0.64358	0.854626119137	0.90311	D	0.275279	0.64782	T	-0.068965	0.41492	T	-0.155312	0.58771	T	0.654025256633759	0.38636	D	0.948305	0.80559	D	0.12000943	0.28247	0.19510686	0.43170	0.12000943	0.28247	0.19510686	0.43169	-5.44	0.41303	T	.	.	0.321	0.65977	B	.;.	.;.	2.239482	0.28593	17.85	0.99444426228745808	0.64921	0.99682	0.98627	D	AEFDBI	0.927997	0.91152	D	0.239979613345284	0.53146	3.484778	0.457369582597003	0.65193	4.792799	0.99999999999946	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.578056	0.29568	0	0.620846	0.47308	0	.	.	6.06	6.06	0.98340	9.920000	0.98759	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.624	0.99515	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	712.83	33	chr10	129837960	.	G	A	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.462;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.6;SOR=0.682	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1286	5	0	1	0
chr10	130079850	130079850	G	T	exonic	C10orf143	.	nonsynonymous SNV	C10orf143:NM_001355042:exon2:c.C121A:p.Q41K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12646073	0.24042	T	.	.	.	.	.	.	.	.	.	0.018106321364771208	0.01764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346065	0.07604	T	0.043273218	0.06715	0.06408682	0.12792	0.043273218	0.06715	0.06408682	0.12792	-4.123	0.25628	T	.	.	0.117	0.23918	B	.	.	0.401416	0.07729	4.406	0.77774999837847802	0.12017	0.13371	0.17818	N	AEFCI	.	.	.	.	.	.	.	.	.	0.0100232626055942	0.11953	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0481801	0.07606	4.38	1.2	0.20181	0.701000	0.25293	2.933000	0.35626	0.676000	0.76740	0.004000	0.16614	0.218000	0.23694	0.032000	0.13371	0.0762:0.249:0.5471:0.1277	5.936	0.18401	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	35.62	3	chr10	130079850	.	G	T	35.62	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.967;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	0	1	4
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	207.7	149	chr10	131970666	.	G	A	207.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.118;DP=455;ExcessHet=0;FS=183.766;MLEAC=1;MLEAF=0.1;MQ=59.83;MQRankSum=-0.344;QD=1.27;ReadPosRankSum=-0.262;SOR=7.978	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1254	4	0	1	1
chr10	132810425	132810425	G	A	exonic	CFAP46	.	stopgain	CFAP46:NM_001200049:exon57:c.C7648T:p.R2550X	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00119808	0.0015	9.699e-05	0.0002	0	0	0.0005	0	0.0084	0.0013001	201	154602	rs138871633	0.0008	0.0008	0.0005	0.0010	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0005	0.0005	7.557e-05	1.895e-05	0.0014	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0004	0.0061	0.0054	4.814e-05	0	0.0005	0.0012	0	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	35.238800	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.214732	0.18718	T	-0.0762375	0.65178	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.002226	0.83007	27.9	0.79635719928766646	0.12831	0.00028	0.00265	N	AEFDBI	0.013699	0.00191	N	-1.24958523173234	0.04305	0.1940443	-1.68978158895145	0.01183	0.0532433	0.67203215814215	0.22385	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.98	-5.95	0.02054	-3.405000	0.00535	-8.047000	0.01038	-2.601000	0.00235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1418:0.2191:0.4209:0.2181	3.015	0.05691	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001554	0.000000	0.002717	0.003497	0.050000	0.000000	0.003049	0.003788	0.08333	790.83	35	chr10	132810425	.	G	A	790.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.635;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	5	0	1	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032760	0.016484	0.031335	0.032847	0.000000	0.034483	0.039735	0.030534	0.08333	667.83	35	chr10	132850429	.	A	G	667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.293;DP=244;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.867;SOR=0.525	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr10	132885876	132885876	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon26:c.G3388A:p.G1130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0971323400898	.	0.000199681	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs531957997	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	3.165e-05	0	3.973e-05	2.799e-05	0	0	0.0002	8.625e-05	1.262e-05	0.0001	0.0001	7.72e-05	0.0001	0.0003	7.096e-05	5.752e-05	8.89e-05	5.395e-05	7.224e-05	0	0.0003	0	0	9.45e-05	0	0.0001	0	0	0.017	0.51248	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.991751	0.23988	N	.	.	.	1.98	0.21865	T	-3.62	0.69593	D	0.555	0.58031	-0.7819	0.56195	T	0.261	0.63230	T	6	0.28736466	0.46319	T	0.097132	0.76721	D	0.205	0.49236	.	.	0.143124449307	0.13826	0.42197720216261425	0.42114	0.497348580915	0.48234	0.579990983009	0.50085	T	0.099331	0.40404	T	-0.259304	0.12982	T	-0.350569	0.39139	T	0.703113675117493	0.40867	D	0.755224	0.37818	T	0.30418473	0.53277	0.3765222	0.62773	0.30418473	0.53277	0.3765222	0.62772	-8.853	0.66746	D	.	.	0.238	0.47172	B	.	.	4.292669	0.65474	24.8	0.99142973098632292	0.53600	0.93452	0.58255	D	AEFDBHCI	0.181256	0.30857	N	-0.145432658309933	0.35428	2.034892	-0.212933996093221	0.31070	1.755027	0.00100663893503841	0.08115	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.699000	0.46744	5.583000	0.48975	0.547000	0.25779	0.970000	0.34288	1.000000	0.68203	0.721000	0.34804	0.187:0.813:0.0:0.0	11.064	0.47182	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	712.83	39	chr10	132885876	.	C	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.682;DP=269;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.02;SOR=0.781	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	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	.	.	.	.	.	.	.	.	0.08333	636.83	54	chr10	132922556	.	G	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=257;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.78;SOR=0.742	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	5	0	1	0
chr10	133129175	133129198	CAGCTCGCGCACAGACAGCCCCCC	-	exonic	ADGRA1	.	nonframeshift deletion	ADGRA1:NM_001291085:exon4:c.1056_1079del:p.R355_S362del,ADGRA1:NM_001083909:exon7:c.1347_1370del:p.R452_S459del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.43e-06	1.368e-06	2.822e-06	0	1.261e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.266e-07	0	1.261e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	672.79	33	chr10	133129174	.	GCAGCTCGCGCACAGACAGCCCCCC	G	672.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=226;ExcessHet=0;FS=1.235;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.304;SOR=0.465	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr10	133186208	133186208	G	C	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G860C:p.R287P	.	408	1110	4	0	0	4	0.00179856	.	.	.	2325030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00865584916163	.	.	0.0003	0	0	0	0	0.0003	0	0.0013	0.0002199	34	154602	rs752105461	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0012	3.092e-05	5.041e-05	0.0026	0	2.024e-05	0.0025	8.249e-05	0.0004	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.534e-05	0.0035	0	0	0	0.0001	0.0005	0.0012	0.297	0.15458	T	0.316	0.19362	T	0.494	0.43019	P	0.077	0.37346	B	0.953897	0.07674	N	1.026230	1	0.08975	N	.	.	.	2.67	0.18724	T	-1.15	0.29525	N	0.174	0.23884	-1.0338	0.19236	T	0.031	0.13330	T	10	0.011535138	0.00252	T	0.008656	0.22878	T	0.017	0.02790	0.262	0.20631	0.170165803431	0.16609	0.2459666774567312	0.24510	0.270215761304	0.29546	0.357813179493	0.19066	T	0.033244	0.22831	T	-0.522275	0.00427	T	-0.600975	0.12730	T	0.017870412163044	0.00514	T	0.335566	0.07155	T	0.16667916	0.37019	0.08654457	0.20057	0.16667916	0.37019	0.08654457	0.20057	-3.828	0.21223	T	.	.	0.120	0.29833	B	.;.	.;.	0.773306	0.11435	8.041	0.92218175862570817	0.21592	0.03967	0.09375	N	AEFDBI	0.103335	0.20706	N	-0.671549333671584	0.16835	0.8612437	-0.756511160625438	0.15562	0.8190947	0.0406992602695945	0.14451	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.21	2.27	0.27501	-0.015000	0.12572	0.119000	0.14890	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1169:0.2216:0.6614:0.0	4.953	0.13373	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003539	0.000000	0.002732	0.005848	0.050000	0.000000	0.003086	0.003788	0.08333	837.83	38	chr10	133186208	.	G	C	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=235;ExcessHet=0;FS=4.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.294;SOR=1.52	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr10	133186417	133186417	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G1069A:p.A357T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2325297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00875637007389	.	.	0.0003	0	0	0	0	0.0003	0	0.0010	0.0002911	45	154602	rs201959912	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	4.474e-05	0.0025	0	1.919e-05	0.0024	8.634e-05	0.0004	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.405e-05	0	0.0001	0.0035	0	0	0	0.0001	0.0005	0.0012	1.0	0.00964	T	1.0	0.02693	T	0.006	0.21357	B	0.005	0.18489	B	0.558271	0.05410	N	1.271130	1	0.08975	N	.	.	.	2.55	0.20122	T	0.06	0.06488	N	0.029	0.00825	-1.0068	0.27912	T	0.021	0.08778	T	10	0.0071769655	0.00163	T	0.008756	0.23123	T	0.011	0.01250	0.07	0.00395	0.0297737177859	0.01360	0.23967221302424227	0.23881	0.177105754943	0.19927	0.287326157093	0.08534	T	0.027076	0.19905	T	-0.683419	0.00046	T	-0.827265	0.01311	T	0.00770742257572953	0.00090	T	0.393061	0.09795	T	0.032224067	0.03207	0.044767126	0.05872	0.032224067	0.03207	0.044767126	0.05872	-4.169	0.26301	T	.	.	0.092	0.13690	B	.;.	.;.	-0.188007	0.03153	0.510	0.58031025430780836	0.05901	0.01706	0.05419	N	AEFDBI	0.039509	0.05748	N	-1.54109555196729	0.01587	0.06935517	-1.55758168669406	0.01924	0.08779216	0.0235786180357086	0.13517	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	-1.69	0.07747	-1.269000	0.02942	-0.171000	0.11226	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4341:0.1677:0.3982:0.0	4.321	0.10456	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.003788	0.08333	1410.83	38	chr10	133186417	.	G	A	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.864;DP=271;ExcessHet=0;FS=5.556;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.483;SOR=1.298	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr10	133423669	133423669	G	A	exonic	SPRN	.	nonsynonymous SNV	SPRN:NM_001012508:exon2:c.C13T:p.P5S	.	417	1104	1	0	0	1	0.000452694	.	.	.	3607846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0246515913978	.	0.000399361	0.0001	0.0022	0	0	0	0	0	0	9.7e-05	15	154602	rs567380216	2.52e-05	3.968e-05	3.2e-05	1.831e-05	0.0008	1.845e-05	1.637e-05	0.0006	0.0005	0.0008	2.332e-05	0	0	0	0	9.122e-07	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	0	0	0	0.042	0.41637	D	0.208	0.26883	T	0.026	0.19406	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.05	0.39990	T	0.1	0.05810	N	0.037	0.01135	-1.0334	0.19363	T	0.043	0.18701	T	9	0.009829938	0.00221	T	0.024652	0.47637	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.08628055734020512	0.08562	.	.	0.746193051338	0.73884	T	6.58E-4	0.00285	T	-0.575047	0.00207	T	-0.644344	0.09355	T	0.0264200830763818	0.01463	T	0.775222	0.40690	T	0.040480513	0.05784	0.09105844	0.21388	0.040480513	0.05784	0.09105844	0.21387	-3.85	0.21553	T	.	.	0.088	0.11845	B	.	.	1.560204	0.19987	14.53	0.99588543059111168	0.73454	0.02231	0.06481	N	AEFDBHI	0.042802	0.06686	N	-1.15988473931045	0.05619	0.2566433	-1.13457788143324	0.07048	0.3414064	0.965969012289178	0.28869	0.59774	0.34471	0	0.550933	0.16991	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.19	-0.352	0.11972	-0.170000	0.09886	1.094000	0.24007	-0.270000	0.06752	0.001000	0.13787	0.172000	0.23351	0.728000	0.35033	0.0:0.4487:0.3518:0.1995	5.642	0.16847	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000534	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	986.83	50	chr10	133423669	.	G	A	986.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.97;DP=339;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.72;SOR=0.763	GT:AD:DP:GQ:PL	0/1:28,38:66:99:997,0,608	5	0	1	0
chr11	308282	308282	G	A	exonic	IFITM2	.	nonsynonymous SNV	IFITM2:NM_006435:exon1:c.G90A:p.M30I	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.027545754632	8.1e-05	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs373569657	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.55e-05	0	0	0	0	1.873e-05	0.0005	3.597e-06	6.624e-05	0.0001	1.971e-05	2.627e-05	2.569e-05	1.345e-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	0.073	0.36709	T	0.178	0.29639	T	0.0	0.02946	B	0.004	0.10090	B	0.123725	0.02749	U	4.824660	1	0.08975	N	0	0.06538	N	-1.12	0.77593	T	0.64	0.02368	N	0.02	0.00407	-0.8924	0.48722	T	0.278	0.64967	T	10	0.05707103	0.06496	T	0.027546	0.50347	D	0.093	0.26882	0.35	0.34760	0.323342291347	0.31936	0.15343894541638417	0.15265	0.305927689878	0.32891	0.287709027529	0.08589	T	0.003747	0.03151	T	-0.369522	0.03618	T	-0.587041	0.13923	T	0.0814915001392365	0.10177	T	0.142386	0.01156	T	0.08879808	0.20726	0.119083226	0.28744	0.08879808	0.20726	0.119083226	0.28744	-4.177	0.26417	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	-0.293134	0.02648	0.336	0.73400461603619127	0.10314	0.28220	0.23494	N	ALL	0.390512	0.46931	N	-1.11514838245652	0.06373	0.2931929	-1.19620889997644	0.05973	0.2861343	0.999999999993514	0.74766	0.545045	0.22601	0	0.52208	0.09955	0	0.601644	0.32324	0	0.56214	0.19341	0	.	.	2.63	0.567	0.16510	-1.238000	0.03029	-10.227000	0.00725	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1598:0.2593:0.5809:0.0	3.705	0.07928	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1192.83	61	chr11	308282	.	G	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.306;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=2.07;QD=17.54;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,107,1185	5	0	1	0
chr11	376469	376469	C	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.C1346A:p.P449H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	.	0.00219649	0.0010	0	0.0003	0	0	1.782e-05	0	0.0071	0.0007633	118	154602	rs200464265	0.0004	0.0004	0.0002	0.0007	0.0070	0.0004	0.0004	0.0065	0.0063	0	0.0002	7.739e-05	2.533e-05	0	0.0004	7.21e-06	0.0005	0.0070	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	6.543e-05	0	0	0	0	0	0	0.0070	0.008	0.58626	D	0.009	0.66756	D	0.982	0.60036	D	0.578	0.50118	P	0.013430	0.01364	N	2.651750	0.996588	0.22968	N	2.7	0.79018	M	3.37	0.05847	T	-3.34	0.66325	D	0.284	0.32148	-1.0200	0.23715	T	0.031	0.13461	T	10	0.0053452253	0.00117	T	.	.	.	0.062	0.17934	0.201	0.11522	0.0934897674506	0.08844	0.4501806250193311	0.44936	0.328225827202	0.34941	0.742934465408	0.73405	T	0.007107	0.06527	T	-0.53522	0.00358	T	-0.538554	0.18438	T	0.126896493959956	0.15092	T	0.474053	0.14146	T	0.18124889	0.39286	0.20526144	0.44688	0.18124889	0.39286	0.20526144	0.44687	-7.117	0.54882	T	.	.	0.184	0.39865	B	.	.	3.296807	0.45235	22.1	0.99570449240272585	0.72379	0.14281	0.18319	N	AEFI	0.034911	0.04405	N	-0.00939412272604369	0.41428	2.477903	-0.105992792910176	0.35149	2.030008	0.0183773916801095	0.13051	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.61	3.61	0.40494	-0.026000	0.12340	2.967000	0.35781	0.437000	0.21030	0.005000	0.17040	1.000000	0.68203	0.347000	0.25591	0.2187:0.7813:0.0:0.0	9.111	0.35891	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003846	0.08333	424.83	34	chr11	376469	.	C	A	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=234;ExcessHet=0;FS=2.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=0.968;SOR=1.136	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1159	5	0	1	0
chr11	376490	376490	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.G1367A:p.R456K	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0408156177146	.	.	0.0002	0.0002	0.0001	0	0	5.459e-05	0	0.0008	9.06e-05	14	154602	rs199532615	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0006	0.0005	0	0.0001	0	0	0	0.0002	0.0001	3.389e-05	0.0007	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	6.824e-05	5.102e-05	4.828e-05	0.0362	0.0002	0	0	0	0	0.0001	0	0.0002	0.238	0.17821	T	0.657	0.06576	T	0.005	0.12996	B	0.005	0.11217	B	0.000023	0.00348	N	5.295930	1	0.08975	N	0.66	0.16226	N	3.58	0.04594	T	-0.33	0.12472	N	0.096	0.07673	-0.9494	0.41075	T	0.011	0.04274	T	10	0.005123943	0.00111	T	0.040816	0.59586	D	0.016	0.02506	.	.	0.168254554758	0.16434	0.29724706279671587	0.29637	0.288884573191	0.31295	0.587463796139	0.51137	T	0.001011	0.00548	T	-0.643701	0.00079	T	-0.781681	0.02403	T	0.00988615024834871	0.00131	T	0.257674	0.04066	T	0.0726652	0.16180	0.04835619	0.07165	0.0726652	0.16180	0.04835619	0.07165	-6.201	0.47931	T	.	.	0.121	0.24967	B	.	.	-0.208260	0.03048	0.471	0.63901334987056058	0.07347	0.00133	0.00820	N	AEFDI	0.018053	0.00518	N	-1.49343461838607	0.01896	0.08319574	-1.6007355705117	0.01651	0.07493432	0.439614460347488	0.20442	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.31	-5.13	0.02665	-1.299000	0.02862	-0.478000	0.08936	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1914:0.3004:0.5082:0.0	7.366	0.25944	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	0.002041	0.000000	0.000000	0.005952	0.000000	0.000000	0.003106	0.003876	0.08333	440.83	43	chr11	376490	.	G	A	440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=205;ExcessHet=0;FS=7.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.302;SOR=1.961	GT:AD:DP:GQ:PL	0/0:37,0:37:81:0,81,1215	5	0	1	0
chr11	498023	498023	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon8:c.C1075T:p.R359W,RNH1:NM_203385:exon8:c.C1075T:p.R359W,RNH1:NM_203388:exon8:c.C1075T:p.R359W,RNH1:NM_203389:exon8:c.C1075T:p.R359W,RNH1:NM_002939:exon9:c.C1075T:p.R359W,RNH1:NM_203383:exon9:c.C1075T:p.R359W,RNH1:NM_203386:exon9:c.C1075T:p.R359W,RNH1:NM_203387:exon9:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	2400708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0638858280608	7.7e-05	0.000798722	0.0001	0.0002	0	0.0008	0	1.507e-05	0	0.0005	0.0001811	28	154602	rs374635782	8.688e-05	8.687e-05	5.718e-05	0.0001	0.0008	7.421e-05	6.969e-05	0.0006	0.0006	8.961e-05	0	0	0.0003	0	0	2.248e-05	0.0003	0.0008	0.0001	0.0001	8.992e-05	0.0002	0.0019	8.657e-05	7.25e-05	0.0010	0.0007	0.0001	0	0	0	0.0010	0	0	1.47e-05	0	0.0019	0.008	0.58626	D	0.014	0.66756	D	0.987	0.61912	D	0.152	0.34249	B	0.115745	0.02680	N	1.942170	1	0.08975	N	0.805	0.20218	L	0.59	0.53943	T	-3.61	0.69477	D	0.193	0.21969	-0.8360	0.52911	T	0.107	0.38832	T	10	0.022221953	0.00549	T	0.063886	0.69106	D	0.116	0.32463	.	.	0.704350777263	0.70178	0.2616547225435387	0.26078	0.189338636663	0.21250	0.260185420513	0.04913	T	0.201983	0.56003	T	-0.393485	0.02553	T	-0.460259	0.26570	T	0.0811654333368729	0.10136	T	0.328467	0.06836	T	0.36074114	0.57892	0.16000384	0.37289	0.36074114	0.57892	0.16000384	0.37288	-5.663	0.43363	T	.	.	0.142	0.31304	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.417646	0.31083	18.63	0.98198912805608318	0.39105	0.21093	0.21279	N	AEFDBCI	0.275597	0.39052	N	-0.653977462051634	0.17345	0.8917107	-0.811352872992663	0.14221	0.741927	0.997536016613686	0.35727	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.73	0.326	0.15150	0.578000	0.23476	1.921000	0.29710	0.590000	0.31872	0.000000	0.06391	0.012000	0.20211	0.004000	0.06068	0.0:0.5084:0.4916:0.0	13.918	0.63416	884	0.28482	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3453.83	40	chr11	498023	.	G	A	3453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=432;ExcessHet=0;FS=4.401;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.177;SOR=0.649	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1376	5	0	1	0
chr11	557469	557469	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon7:c.G643A:p.V215M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0150298998923	7.7e-05	.	3.352e-05	0.0004	0	0	0	0	0	0	1.94e-05	3	154602	rs148920876	1.165e-05	1.163e-05	4.091e-06	1.93e-05	0.0002	7.1e-06	5.8e-06	7.721e-05	5.311e-05	0.0002	0	0	2.524e-05	0	0.0002	5.402e-06	1.659e-05	2.328e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-05	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.005	0.91255	D	0.02	0.60972	D	0.984	0.60733	D	0.222	0.37884	B	0.699403	0.06193	N	1.222870	0.999281	0.21411	N	.	.	.	1.47	0.31987	T	-1.1	0.51811	N	0.481	0.51583	-1.0226	0.22866	T	0.048	0.20474	T	10	0.08046287	0.13063	T	0.01503	0.35522	T	0.098	0.28162	.	.	0.28722502521	0.28325	0.08877719080426505	0.08810	0.222060016739	0.24739	.	.	.	0.044193	0.29186	T	-0.289171	0.09720	T	-0.404841	0.32822	T	0.138692836788967	0.16162	T	0.759024	0.38317	T	0.10810985	0.25563	0.09498403	0.22506	0.10810985	0.25563	0.09498403	0.22505	-7.782	0.59574	D	.	.	0.201	0.53618	B	.;.;.	.;.;.	3.297930	0.45254	22.1	0.99707201457395467	0.81074	0.33266	0.24787	N	AEFDBHCI	0.119956	0.23390	N	-0.474168611779943	0.22929	1.227773	-0.586390744882981	0.19847	1.06672	0.999999663085889	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.493711	0.08198	1	0.620976	0.48614	0	.	.	4.16	2.29	0.27658	0.737000	0.25812	2.988000	0.35869	0.576000	0.29215	0.000000	0.06391	0.996000	0.32793	0.088000	0.17685	0.0:0.7969:0.0:0.2031	7.829	0.28492	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1298.83	37	chr11	557469	.	C	T	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.072;DP=269;ExcessHet=0;FS=5.443;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.665;SOR=1.255	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1307	5	0	1	0
chr11	694956	694994	GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	-	exonic	DEAF1	.	nonframeshift deletion	DEAF1:NM_001293634:exon1:c.54_92del:p.18_31del,DEAF1:NM_021008:exon1:c.54_92del:p.V19_A31del	Mental retardation, autosomal dominant 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1177497	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0.0011	0	0.0004	6.5e-06	1	154602	rs778007178	0.0003	0.0005	0.0003	0.0003	0.0010	0.0003	0.0002	0.0007	0.0006	0.0002	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0.0004	0.0010	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0006	0.0004	0.0002	0	0.0001	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	78.3	4	chr11	694955	.	GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	G	78.3	.	AC=2;AF=0.25;AN=8;DP=32;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;QD=29.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:91,6,0	3	1	0	2
chr11	721200	721200	G	A	exonic	EPS8L2	.	nonsynonymous SNV	EPS8L2:NM_022772:exon8:c.G694A:p.E232K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0526182111859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs969250415	4.277e-05	4.241e-05	5.144e-05	3.384e-05	5.216e-05	3.368e-05	3.084e-05	4.119e-05	3.702e-05	0	2.922e-05	0	0	0	0	5.216e-05	3.49e-05	0	1.314e-05	1.313e-05	2.57e-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	0.587	0.07163	T	0.387	0.16134	T	0.585	0.38912	P	0.028	0.21332	B	0.255773	0.15415	U	0.566633	0.995155	0.23359	N	1.7	0.43825	L	1.01	0.41058	T	-0.78	0.21644	N	0.115	0.10769	-1.0632	0.10974	T	0.042	0.18118	T	10	0.110101044	0.20565	T	0.052618	0.65141	D	0.061	0.17616	.	.	0.326345978581	0.32251	0.3720341219793615	0.37117	0.118555148815	0.13351	0.724799394608	0.70746	T	0.03942	0.25181	T	-0.272941	0.11430	T	-0.449541	0.27747	T	0.0727227360442566	0.09028	T	0.838016	0.51077	T	0.07886947	0.17985	0.10723837	0.25813	0.07886947	0.17985	0.10723837	0.25813	-4.885	0.37143	T	.	.	0.108	0.20391	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249795	0.44396	21.9	0.99784307410884265	0.87043	0.33780	0.24911	N	AEFDBHCI	0.145926	0.26926	N	-0.481559574477832	0.22685	1.213063	-0.487974568863686	0.22483	1.221434	0.997454573379319	0.35635	0.766844	0.99359	0	0.706955	0.78570	0	0.851219	0.99655	0	0.620976	0.48614	0	.	.	3.46	2.54	0.29674	0.864000	0.27581	7.316000	0.58145	0.583000	0.30283	0.026000	0.20160	1.000000	0.68203	0.161000	0.20682	0.1228:0.0:0.8772:0.0	8.333	0.31356	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	298.83	35	chr11	721200	.	G	A	298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.455;DP=169;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0;SOR=0.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,956	5	0	1	0
chr11	824021	824021	C	T	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon8:c.C943T:p.P315S	Neutral lipid storage disease with myopathy, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	254350	not_provided|Neutral_lipid_storage_myopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.209	0.33132841879	0.0007	0.000199681	0.0007	0.0001	0.0001	0	0	0.0009	0.0017	0.0010	0.0004463	69	154602	rs150385364	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0006	0.0008	0.0007	0.0002	6.734e-05	0	0	0	0.0002	0.0007	0.0008	0.0009	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0	0	0	9.413e-05	0	0.0005	0	0.0004	0.464	0.08634	T	0.54	0.09760	T	0.032	0.20242	B	0.017	0.18140	B	0.000573	0.43250	D	0.136711	0.992137	0.23930	N	2.015	0.55033	M	-1.0	0.76037	T	-0.62	0.18248	N	0.281	0.31814	-0.8476	0.52134	T	0.280	0.65189	T	10	0.059498847	0.07161	T	0.331328	0.91759	D	0.209	0.49871	.	.	0.807158024866	0.80535	0.29495890902339594	0.29408	0.231326964674	0.25683	0.505202770233	0.39553	T	0.217792	0.58033	T	-0.322409	0.06702	T	-0.323841	0.42152	T	0.0366625383861337	0.03096	T	0.867613	0.56877	D	0.047395583	0.08094	0.041475486	0.04721	0.047395583	0.08094	0.041475486	0.04721	-7.992	0.61016	D	0.0972078754124502	0.06811	0.091	0.13127	B	.	.	3.045141	0.40835	21.2	0.98712740158102819	0.45083	0.78240	0.38571	D	AEFBHCI	0.621593	0.60623	D	-0.104107316047763	0.37213	2.161855	-0.000640972728408202	0.39687	2.356946	0.999132142658559	0.38535	0.706548	0.73137	0	0.606735	0.50208	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.18	3.18	0.35615	5.287000	0.65449	5.502000	0.48775	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.1827:0.6621:0.1553:0.0	8.32	0.31285	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	469.83	31	chr11	824021	.	C	T	469.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.549;DP=208;ExcessHet=0;FS=4.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.341;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1209	5	0	1	0
chr11	988579	988579	C	T	exonic	AP2A2	.	nonsynonymous SNV	AP2A2:NM_001242837:exon10:c.C1162T:p.R388W,AP2A2:NM_012305:exon10:c.C1159T:p.R387W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.0800859540071	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453495639	4.109e-06	7.524e-06	5.452e-06	2.753e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.345	0.91022	M	1.62	0.28189	T	-7.08	0.93927	D	0.923	0.92667	-0.4842	0.69216	T	0.243	0.61119	T	10	0.9144197	0.90804	D	0.080086	0.73382	D	0.457	0.75551	0.75	0.88071	0.681666823449	0.67895	0.751102020147409	0.75057	1.86602819709	0.92454	0.864951431751	0.91838	D	0.575274	0.86003	D	0.209005	0.74738	D	0.0624454	0.74408	D	0.997245788574219	0.91101	D	0.996959	0.98828	D	0.83249444	0.86077	0.7107474	0.82937	0.83249444	0.86078	0.7107474	0.82938	-16.867	0.98896	D	.	.	0.988	0.93009	P	.;.	.;.	5.363772	0.89943	31	0.9991168041546904	0.98095	0.89223	0.49559	D	AEFDBCI	0.698280	0.65600	D	0.536907855296206	0.69288	5.335795	0.393403246838425	0.61157	4.312037	0.462293798121734	0.20634	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	2.99	0.33673	0.902000	0.28088	3.319000	0.37529	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4992:0.5008:0.0:0.0	11.067	0.47201	862	0.33134	.;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	947.83	38	chr11	988579	.	C	T	947.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.968;DP=256;ExcessHet=0;FS=4.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	5	0	1	0
chr11	1016833	1016833	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5968A:p.Q1990K	.	281	1179	59	3	0	65	0.0268262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.0066	0.0054	0.0137	0.0052	0.0059	0.0068	0.0066	0.0025	0.0052134	806	154602	rs71472140	3.434e-06	0.0017	1.367e-06	5.521e-06	2.519e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	2.519e-05	1.879e-05	0	1.807e-06	1.661e-05	0	2.069e-05	0.0071	1.351e-05	2.818e-05	8.309e-05	5.5e-06	2.53e-06	2.202e-05	1.11e-05	8.309e-05	0	0	0	0	0	0	0	0	0	0.044	0.41096	D	0.919	0.02882	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.06	0.08197	N	2.13	0.19588	T	-0.27	0.11366	N	0.04	0.01347	-0.9752	0.36082	T	0.017	0.07187	T	9	0.0052206814	0.00114	T	.	.	.	0.007	0.00512	.	.	0.144782658237	0.14088	0.13176804686492347	0.13101	0.15740334082	0.17771	0.169174268842	0.00029	T	0.02147	0.16712	T	-0.367096	0.03743	T	-0.765084	0.02933	T	0.0911382230154741	0.11353	T	.	.	.	0.054971293	0.10621	0.04779059	0.06962	0.054971293	0.10621	0.04779059	0.06962	-4.265	0.27683	T	.	.	0.066	0.02228	B	.	.	-0.805330	0.01096	0.049	0.58088108874946298	0.05914	0.01441	0.04838	N	AEFDGBCI	0.026879	0.02097	N	-1.70474050646289	0.00825	0.0356758	-1.75322499355266	0.00921	0.04121295	0.999999157703228	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	2.97	-4.45	0.03298	-1.290000	0.02886	-8.924000	0.00893	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3598:0.3829:0.2573	6.937	0.23652	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	0.010585	0.005051	0.000000	0.052941	0.000000	0.008621	0.003049	0.003788	0.08333	908.83	1002	chr11	1016833	.	G	T	908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.997;DP=3866;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=55.22;MQRankSum=-5.443;QD=1.93;ReadPosRankSum=-0.694;SOR=0.695	GT:AD:DP:GQ:PL	0/0:600,0:600:99:0,120,1800	5	0	1	0
chr11	1016836	1016836	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5965C:p.F1989L	.	286	1207	4	2	23	31	0.00330306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0026347019277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767686248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.691	0.05901	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.03	0.25572	L	2.51	0.14284	T	0.23	0.04613	N	0.094	0.07398	-0.9351	0.43379	T	0.020	0.08593	T	9	0.046284944	0.03800	T	0.002635	0.05349	T	0.006	0.00375	0.186	0.09517	0.159798565429	0.15598	0.12369059151633219	0.12295	0.495164995704	0.48060	0.229721695185	0.01947	T	0.010995	0.09867	T	-0.297947	0.08855	T	-0.665757	0.07882	T	0.0600685606641668	0.07180	T	.	.	.	0.034599863	0.03913	0.03794508	0.03556	0.034599863	0.03912	0.03794508	0.03556	-7.999	0.61064	D	.	.	0.616	0.69538	P	.	.	0.875729	0.12489	9.019	0.82907023799693025	0.14439	0.02097	0.06220	N	AEFDGBCI	0.028451	0.02507	N	-1.28950065290998	0.03800	0.1704365	-1.41303969728106	0.03121	0.1449693	0.999996397100607	0.74766	0.716459	0.82106	0	0.639134	0.57113	0	0.73237	0.93354	0	0.264475	0.05362	3	.	.	3.08	-3.37	0.04591	-0.635000	0.05568	-7.718000	0.01099	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4262:0.1596:0.1036:0.3107	0.911	0.01214	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	.	.	.	.	.	.	.	.	0.08333	113.83	1058	chr11	1016836	.	A	G	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.137;DP=3983;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=55.27;MQRankSum=-5.494;QD=0.25;ReadPosRankSum=-0.364;SOR=0.698	GT:AD:DP:GQ:PL	0/0:610,0:610:99:0,120,1800	5	0	1	0
chr11	1016853	1016853	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5948G:p.P1983R	.	277	1238	5	2	0	9	0.00362173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00488159289563	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160258722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.054	0.47097	T	0.937	0.52445	P	0.328	0.42011	B	.	.	.	.	1	0.08975	N	2.275	0.64647	M	2.17	0.19020	T	-2.13	0.48354	N	0.177	0.19055	-1.0224	0.22932	T	0.038	0.16376	T	9	0.14435574	0.27396	T	0.004882	0.12255	T	0.057	0.16321	.	.	0.434384183301	0.43057	0.20827652666858598	0.20743	0.494461366654	0.48007	0.180036306381	0.00094	T	0.069987	0.33847	T	-0.276129	0.11083	T	-0.634417	0.10081	T	0.574060618877411	0.35390	D	.	.	.	0.06282277	0.13162	0.07220002	0.15548	0.06282277	0.13162	0.07220002	0.15547	-8.999	0.67691	D	.	.	0.094	0.14568	B	.	.	1.807542	0.22973	15.83	0.98805973977460848	0.46541	0.06358	0.12358	N	AEFDGBCI	0.031678	0.03434	N	-0.696097616425934	0.16133	0.8192559	-0.920967182544047	0.11600	0.5919439	0.999987668818231	0.51787	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.76	-0.959	0.09816	-0.120000	0.10633	-1.142000	0.06206	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.287:0.0:0.5109:0.2021	3.316	0.06621	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	.	.	.	.	.	.	.	.	0.08333	207.83	1056	chr11	1016853	.	G	C	207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.32;DP=3957;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.19;MQRankSum=-4.834;QD=0.43;ReadPosRankSum=-0.738;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:601,0:601:99:.:.:0,120,1800:.	5	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	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	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	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	.	.	.	.	.	.	.	.	0.08333	492.83	929	chr11	1016881	.	C	T	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.765;DP=3373;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.38;MQRankSum=-4.384;QD=1.23;ReadPosRankSum=-0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/0:419,29:448:44:0,44,17550	5	0	1	0
chr11	1016905	1016905	A	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5896A:p.F1966I	.	296	1216	10	0	0	10	0.004095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00421767754056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369592014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.395	0.15255	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.16	0.19166	T	-0.63	0.18459	N	0.144	0.14480	-0.9809	0.34794	T	0.022	0.09147	T	9	0.046243697	0.03791	T	0.004218	0.10184	T	0.002	0.00045	.	.	0.119812018005	0.11559	0.13677124270889138	0.13601	0.530745344026	0.50606	0.203865617514	0.00578	T	0.028633	0.20698	T	-0.335171	0.05730	T	-0.719227	0.04833	T	0.0654084905982018	0.07992	T	.	.	.	0.035379708	0.04153	0.033076324	0.02143	0.035379708	0.04153	0.033076324	0.02143	-9.016	0.67800	D	.	.	0.105	0.19398	B	.	.	0.557307	0.09259	6.041	0.85651716146356816	0.16026	0.01975	0.05977	N	AEFDGBCI	0.028454	0.02510	N	-1.53454620578347	0.01627	0.0711344	-1.60038129960586	0.01653	0.07503599	0.99999748474377	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-3.31	0.04677	-3.997000	0.00358	-12.137000	0.00548	-1.664000	0.00809	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3258:0.0:0.3614:0.3128	3.382	0.06835	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	.	.	.	.	.	.	.	.	0.08333	547.0	856	chr11	1016905	.	A	T	547.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.805;DP=3047;ExcessHet=0;FS=1.022;MLEAC=1;MLEAF=0.083;MQ=56.37;MQRankSum=-3.786;QD=1.49;ReadPosRankSum=0.644;SOR=0.842	GT:AD:DP:GQ:PL	0/0:351,25:376:7:0,7,14670	5	0	1	0
chr11	1016947	1016947	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5854A:p.A1952T	.	310	1208	4	0	0	4	0.00165289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00510987525816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231704494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.321e-05	0.0031	2.585e-05	0	2.421e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	0	0	0	0	0	1.48e-05	0	0	0.084	0.32929	T	0.89	0.03134	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.16	0.19166	T	0.03	0.06612	N	0.021	0.00339	-0.9517	0.40678	T	0.028	0.12014	T	9	0.056096375	0.06235	T	0.00511	0.12970	T	0.005	0.00259	.	.	0.143124449307	0.13826	0.0819202071560189	0.08127	0.449518881182	0.44739	0.16749317944	0.00024	T	0.008032	0.07391	T	-0.41748	0.01775	T	-0.837458	0.01138	T	0.0973756408423132	0.12065	T	.	.	.	0.035765704	0.04273	0.054211512	0.09279	0.035765704	0.04273	0.054211512	0.09279	-6.49	0.50209	T	.	.	0.073	0.04477	B	.	.	-0.259542	0.02800	0.384	0.90664406899768024	0.19915	0.00422	0.02082	N	AEFDGBCI	0.016128	0.00345	N	-1.28484675540521	0.03857	0.1730705	-1.37142780317007	0.03560	0.166289	0.999991833278382	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-2.1	0.06809	-1.116000	0.03397	-9.636000	0.00795	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5005:0.1801:0.3194	4.543	0.11466	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	.	.	.	.	.	.	.	.	0.08333	541.83	631	chr11	1016947	.	C	T	541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.066;DP=2238;ExcessHet=0;FS=4.797;MLEAC=1;MLEAF=0.083;MQ=55.29;MQRankSum=-3.425;QD=2.04;ReadPosRankSum=0.554;SOR=1.148	GT:AD:DP:GQ:PL	0/0:294,0:294:99:0,120,1800	5	0	1	0
chr11	1016967	1016967	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5834G:p.T1945R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00294092464031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760386606	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.233e-05	0.0038	4.74e-05	1.655e-05	8.59e-05	1.055e-05	6.09e-06	6e-06	2.25e-06	2.903e-05	0	8.59e-05	0	0	0	0	3.618e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.85	0.21244	L	1.79	0.25509	T	-1.1	0.28497	N	0.044	0.01658	-0.9870	0.33347	T	0.023	0.09878	T	9	0.05158657	0.05064	T	0.002941	0.06250	T	0.007	0.00512	.	.	0.12205267543	0.11705	0.16424486959422518	0.16344	0.498535268662	0.48324	0.165782406926	0.00019	T	0.026805	0.19761	T	-0.344018	0.05115	T	-0.731934	0.04241	T	0.0622811331207156	0.07524	T	.	.	.	0.11414501	0.26949	0.083269864	0.19070	0.11414501	0.26949	0.083269864	0.19070	-9.476	0.70710	D	.	.	0.067	0.02518	B	.	.	0.892625	0.12662	9.186	0.46603592230845092	0.03746	0.02299	0.06611	N	AEFDGBCI	0.025476	0.01750	N	-1.69281530757839	0.00868	0.0375355	-1.77067688520535	0.00858	0.03832809	0.999999764164092	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	2.73	-5.46	0.02404	-0.944000	0.04022	-12.379000	0.00529	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1774:0.5973:0.2253	8.098	0.30001	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	.	.	.	.	.	.	.	.	0.08333	344.83	570	chr11	1016967	.	G	C	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.613;DP=2070;ExcessHet=0;FS=8.683;MLEAC=1;MLEAF=0.083;MQ=55.89;MQRankSum=-4.638;QD=1.43;ReadPosRankSum=2.41;SOR=1.521	GT:AD:DP:GQ:PL	0/0:282,0:282:99:0,120,1800	5	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3146.78	518	chr11	1016991	.	T	*	3146.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.12;DP=1882;ExcessHet=3.1439;FS=4.294;MLEAC=2;MLEAF=0.2;MQ=56.2;MQRankSum=-7.766;QD=2.24;ReadPosRankSum=-3.865;SOR=1.047	GT:AD:DP:GQ:PL	0/0:253,0:253:99:0,120,1800	3	0	2	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6555.23	682	chr11	1017498	.	C	*	6555.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.902;DP=2225;ExcessHet=11.5949;FS=1.112;MLEAC=1;MLEAF=0.083;MQ=55.22;MQRankSum=-11.99;QD=3.01;ReadPosRankSum=3.15;SOR=0.586	GT:AD:DP:GQ:PL	0/0:201,28:330:99:1794,1165,9612	5	0	1	0
chr11	1017579	1017579	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5222A:p.S1741N	.	379	1037	103	0	3	106	0.0473128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00127213989756	.	.	0.0003	0.0003	8.9e-05	0.0002	0	0.0002	0.0023	0.0009	.	.	.	rs779142565	0.0009	0.0019	0.0010	0.0009	0.0040	0.0009	0.0009	0.0034	0.0032	0.0013	0.0016	0.0027	0.0040	9.574e-05	0.0019	0.0008	0.0016	0.0001	5.083e-05	0.0018	5.681e-05	4.458e-05	7.218e-05	2.31e-05	1.656e-05	1.301e-05	6.61e-06	2.645e-05	0.0012	7.218e-05	0	0	0.0001	0	4.902e-05	0	0	0.005	0.63226	D	0.098	0.39040	T	0.261	0.31520	B	0.365	0.43339	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	1.74	0.26301	T	-0.53	0.16393	N	0.172	0.18376	-0.9449	0.41830	T	0.069	0.28379	T	9	0.035974413	0.01872	T	0.001272	0.01733	T	0.020	0.03691	.	.	0.297031009988	0.29315	0.1879420106145481	0.18712	0.0825499896549	0.09315	0.215083733201	0.01045	T	0.037822	0.24615	T	-0.214861	0.18700	T	-0.54641	0.17672	T	0.112606115390961	0.13692	T	.	.	.	0.14775811	0.33763	0.22724147	0.47728	0.14775811	0.33763	0.22724147	0.47727	-4.814	0.34754	T	.	.	0.142	0.31304	B	.	.	0.957545	0.13342	9.843	0.86836777181076064	0.16806	0.02741	0.07418	N	AEFDGBCI	0.037637	0.05207	N	-0.913600083990715	0.10524	0.5032836	-1.09392490730971	0.07819	0.3818696	0.9999861933571	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.0	0.00061	3	0.387032	0.06801	2	.	.	2.1	-0.0431	0.13190	-1.622000	0.02145	-0.668000	0.07948	0.333000	0.19617	0.000000	0.06391	0.008000	0.19753	0.004000	0.06068	0.218:0.3521:0.4298:0.0	5.328	0.15221	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	.	.	.	.	.	.	.	.	0.1	752.7	451	chr11	1017579	.	C	T	752.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.112;DP=1584;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.1;MQ=58.7;MQRankSum=-10.89;QD=3.1;ReadPosRankSum=2.8;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:216,0:216:99:.:.:0,120,1800:.	4	0	1	1
chr11	1017633	1017797	GTTCCTGTACTGGTGGGGTTGGGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTCAGCATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCTGTGTTTAATGAGCTCAGGGCTTGGCTGGTCCCGCTGGTGGTCAGCGTCATTGTTGGC	-	exonic	MUC6	.	nonframeshift deletion	MUC6:NM_005961:exon31:c.5004_5168del:p.T1670_P1724del	.	398	901	222	0	1	223	0.109684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.059e-05	0.0002	7.118e-05	7.001e-05	0.0002	5.428e-05	4.898e-05	5.098e-05	3.761e-05	0.0002	0.0002	0.0002	0.0002	0	0	6.029e-05	0.0002	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	471.64	450	chr11	1017632	.	GGTTCCTGTACTGGTGGGGTTGGGGGTGATGTTGGTGGTAGAAGTTGAGGTGGCTTCAGCATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCTGTGTTTAATGAGCTCAGGGCTTGGCTGGTCCCGCTGGTGGTCAGCGTCATTGTTGGC	G	471.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.074;DP=1905;ExcessHet=0;FS=3.61;MLEAC=1;MLEAF=0.125;MQ=58.55;MQRankSum=-15.87;QD=0.78;ReadPosRankSum=-0.589;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800:.	3	0	1	2
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3808.95	515	chr11	1017655	.	G	*	3808.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.801;DP=2161;ExcessHet=6.1542;FS=0.686;MLEAC=1;MLEAF=0.083;MQ=59.88;MQRankSum=0.69;QD=2.04;ReadPosRankSum=0.959;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:231,0:276:99:.:.:576,1269,8404:.	5	0	1	0
chr11	1017955	1017955	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G4846C:p.V1616L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00229174719971	.	.	0.0017	0.0038	0.0008	0.0032	0.0011	0.0011	0.0047	0.0030	.	.	.	rs113926343	7.88e-07	0.0008	0	1.578e-06	1.052e-06	0	0	.	.	0	0	0	0	0	0	1.052e-06	0	0	0	5.91e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.259	0.31472	B	0.152	0.34249	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.47	0.14783	T	-0.04	0.07590	N	0.027	0.00571	-0.9499	0.40989	T	0.021	0.08686	T	9	0.00694412	0.00158	T	0.002292	0.04397	T	0.003	0.00094	.	.	0.163833314356	0.15978	0.09761541318074733	0.09692	0.087332336583	0.09842	0.172479629517	0.00043	T	0.014369	0.12243	T	-0.399329	0.02339	T	-0.811385	0.01634	T	0.0507352199732214	0.05628	T	.	.	.	0.029291295	0.02401	0.033170562	0.02169	0.029291295	0.02400	0.033170562	0.02169	-7.603	0.58332	D	.	.	0.077	0.06295	B	.	.	-1.590968	0.00245	0.004	0.42620328911290351	0.03154	0.01256	0.04413	N	AEFDGBCI	0.024389	0.01504	N	-1.34491184671897	0.03178	0.1415301	-1.47816894898137	0.02524	0.1162249	0.999795503595	0.43153	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.73	-1.99	0.07047	-3.396000	0.00539	-14.292000	0.00411	-3.367000	0.00092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2204:0.2998:0.4798:0.0	4.588	0.11689	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	.	.	.	.	.	.	.	.	0.08333	470.83	318	chr11	1017955	.	C	G	470.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.357;DP=1285;ExcessHet=0;FS=1.383;MLEAC=1;MLEAF=0.083;MQ=55.29;MQRankSum=-2.851;QD=2.85;ReadPosRankSum=0.083;SOR=0.547	GT:AD:DP:GQ:PL	0/0:235,0:235:99:0,120,1800	5	0	1	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	68.83	293	chr11	1017980	.	G	C	68.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=1268;ExcessHet=0;FS=4.271;MLEAC=1;MLEAF=0.083;MQ=54.75;MQRankSum=-4.434;QD=0.41;ReadPosRankSum=-1.631;SOR=1.44	GT:AD:DP:GQ:PL	0/0:309,0:309:99:0,120,1800	5	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	42.81	213	chr11	1018228	.	G	*	42.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=729;ExcessHet=0.4139;FS=28.93;MLEAC=1;MLEAF=0.083;MQ=57.36;MQRankSum=-8.726;QD=0.12;ReadPosRankSum=-0.378;SOR=3.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,0:108:10:.:.:0,304,4534:.	5	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1655.92	269	chr11	1018290	.	G	A	1655.92	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.99;DP=909;ExcessHet=6.1542;FS=19.265;MLEAC=3;MLEAF=0.25;MQ=55.23;MQRankSum=-5.755;QD=2.02;ReadPosRankSum=0.586;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:146,0:157:22:0|1:1018290_G_C:22,462,6592:1018290	3	0	3	0
chr11	1024858	1024858	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon24:c.A3211C:p.T1071P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	.	0.0225	0.0323	0.0224	0.0282	0.0696	0.0223	0.0307	0.0048	6.5e-06	1	154602	rs201059141	0.0008	0.0009	0.0008	0.0009	0.0040	0.0008	0.0008	0.0035	0.0033	0.0011	0.0036	0.0007	0.0040	0.0068	0.0007	0.0004	0.0009	0.0005	6.583e-06	6.57e-06	0	1.348e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.241	0.17643	T	0.081	0.41742	T	0.005	0.12996	B	0.003	0.08700	B	0.008986	0.30568	U	0.000000	0.999999	0.08975	N	-1.145	0.00921	N	-1.02	0.76300	T	-1.2	0.30555	N	0.081	0.05670	-0.9192	0.45662	T	0.177	0.52272	T	10	0.015320063	0.00321	T	.	.	.	0.157	0.40909	.	.	.	.	0.7226422632551922	0.72208	0.116626031118	0.13156	0.355671703815	0.18753	T	0.024141	0.18296	T	-0.123719	0.32517	T	-0.41549	0.31594	T	0.00302622619343123	0.00032	T	.	.	.	0.1200233	0.28250	0.13835762	0.33045	0.1200233	0.28249	0.13835762	0.33044	-7.248	0.55825	T	.	.	0.056	0.00444	B	.	.	1.169156	0.15586	11.96	0.48907839286492688	0.04120	0.21225	0.21326	N	AEFBCI	0.198990	0.32581	N	-1.23303417095842	0.04528	0.2045507	-1.18282218730486	0.06196	0.2974991	0.0865355204160233	0.16011	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.9	1.94	0.25058	0.408000	0.20787	-3.491000	0.02746	-2.986000	0.00144	0.029000	0.20367	0.000000	0.08366	0.008000	0.08271	0.1433:0.6403:0.1383:0.0781	5.673	0.17007	825	0.40060	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	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	0.068182	0.082474	0.106557	0.046784	0.050000	0.120690	0.076220	0.071970	0.08333	972.83	33	chr11	1024858	.	T	G	972.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=239;ExcessHet=0;FS=3.748;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.511;SOR=0.345	GT:AD:DP:GQ:PL	0/1:33,36:69:99:983,0,893	5	0	1	0
chr11	1031202	1031202	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon5:c.G541A:p.G181R	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	.	0.0009	0.00279553	0.0081	0.0004	0.0050	0.0005	0.0666	0.0066	0.0176	0.0068	0.0027102	419	154602	rs139011641	0.0022	0.0022	0.0020	0.0024	0.0159	0.0021	0.0021	0.0132	0.0123	0.0005	0.0014	0.0020	2.651e-05	0.0271	0.0159	0.0008	0.0031	0.0061	0.0030	0.0031	0.0016	0.0044	0.0043	0.0028	0.0027	0.0028	0.0024	7.331e-05	0	0.0017	0.0035	0.0002	0.0282	0.0136	0.0013	0.0038	0.0043	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.007972	0.31093	U	0.000000	0.990232	0.41116	D	3.175	0.88760	M	-0.07	0.63738	T	-7.09	0.93950	D	0.471	0.50688	-0.0199	0.81841	T	0.373	0.73197	T	10	0.005497366	0.00121	T	.	.	.	0.427	0.73445	0.749	0.87988	0.802521860083	0.80068	0.8617723739993726	0.86141	0.106557750624	0.12047	0.55417406559	0.46446	T	0.183092	0.53531	T	-0.286525	0.09987	T	-0.182845	0.56258	T	0.191765278577805	0.19948	T	.	.	.	0.33262926	0.55684	0.37870377	0.62942	0.33262926	0.55684	0.37870377	0.62942	-8.624	0.65248	D	.	.	0.240	0.47371	B	.	.	3.293412	0.45176	22.1	0.99634560934350225	0.76264	0.98301	0.81414	D	AEFDBI	0.688841	0.64971	D	0.429867953025855	0.63072	4.534013	0.271884219551687	0.53903	3.557242	0.99998133804765	0.51787	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	3.66	0.41111	2.493000	0.44979	1.016000	0.23368	0.527000	0.24520	0.023000	0.19925	0.386000	0.24640	0.018000	0.11154	0.0:1.0:0.0:0.0	15.755	0.77783	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	rs139011641	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	401.83	33	chr11	1031202	.	C	T	401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=1.52;SOR=0.836	GT:AD:DP:GQ:PL	0/1:37,19:56:99:412,0,866	5	0	1	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.08333	1115.83	37	chr11	1075685	.	C	T	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.843;DP=268;ExcessHet=0;FS=4.484;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.09;SOR=0.328	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1362	5	0	1	0
chr11	1083140	1083140	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0260579296485	.	0.000199681	7.575e-05	0.0004	0	0	0	6.139e-05	0.0011	0	0.0001035	16	154602	rs555224884	6.437e-05	6.499e-05	5.86e-05	7.021e-05	0.0014	5.367e-05	4.982e-05	0.0011	0.0010	0.0014	4.473e-05	0.0006	2.519e-05	0	0.0005	1.079e-05	0.0002	0	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0007	0.0007	0.0010	0	0.0003	0.0009	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	813.83	57	chr11	1083140	.	G	A	813.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.96;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.08;SOR=0.572	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,110,1587	5	0	1	0
chr11	1085156	1085156	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.412e-05	0.0001	0	0.0002	0	1.601e-05	0	6.27e-05	3.23e-05	5	154602	rs761764745	4.453e-05	4.446e-05	5.18e-05	3.718e-05	0.0011	3.58e-05	3.262e-05	0.0008	0.0008	0.0004	0	0	0.0011	0	0	3.598e-06	1.657e-05	4.639e-05	5.252e-05	5.249e-05	5.138e-05	5.371e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.384e-05	9.621e-05	0	6.532e-05	0	0.0006	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1051.83	33	chr11	1085156	.	C	T	1051.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.997;SOR=0.664	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1139	5	0	1	0
chr11	1095525	1095525	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966951239	6.521e-05	7.337e-05	7.112e-05	5.998e-05	0.0005	4.911e-05	4.364e-05	8.919e-05	3.659e-05	5.652e-05	5.776e-05	0.0012	0	0	0.0005	2.397e-05	0.0001	0	4.602e-05	4.594e-05	1.286e-05	8.069e-05	6.544e-05	2.11e-05	1.527e-05	8e-06	2.99e-06	4.824e-05	0	6.544e-05	0.0009	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2989.83	177	chr11	1095525	.	C	A	2989.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=1.59;SOR=0.699	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	5	0	1	0
chr11	1095812	1095812	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264846372	2.906e-06	2.737e-06	1.435e-06	4.415e-06	0.0002	6.8e-07	4.6e-07	1.056e-05	3.95e-06	6.38e-05	0	0	0	0	0.0002	0	1.737e-05	0	2.001e-05	1.981e-05	0	4.094e-05	7.404e-05	5.32e-06	2.48e-06	1.963e-05	1.044e-05	7.404e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1255.83	120	chr11	1095812	.	A	G	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.195;DP=1060;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.01;MQRankSum=-0.309;QD=10.47;ReadPosRankSum=0.634;SOR=0.703	GT:AD:DP:GQ:PL	0/0:235,0:235:99:0,120,1800	5	0	1	0
chr11	1095877	1095879	CAC	-	exonic	MUC2	.	unknown	UNKNOWN	.	561	956	5	0	0	5	0.00260824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201642444	0.0007	0.0008	0.0007	0.0007	0.0021	0.0006	0.0006	0.0012	0.0010	0	0.0006	0	0	8.585e-05	0.0021	0.0007	0.0006	0.0008	0.0003	0.0004	0.0003	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	6.188e-05	0	0.0006	0	0	0	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3768.79	118	chr11	1095876	.	TCAC	T	3768.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.408;DP=1060;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=56.23;MQRankSum=1.27;QD=21.66;ReadPosRankSum=0.271;SOR=0.85	GT:AD:DP:GQ:PL	0/0:235,0:235:99:0,120,1800	5	0	1	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3427.23	381	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3427.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=3138;ExcessHet=1.383;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=54.83;MQRankSum=-3.156;QD=3.28;ReadPosRankSum=0.519;SOR=0.914	GT:AD:DP:GQ:PL	0/0:426,0:426:99:0,120,1800	4	0	2	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3664.91	254	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3664.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.45;DP=2819;ExcessHet=1.7609;FS=0.538;MLEAC=1;MLEAF=0.1;MQ=55.64;MQRankSum=0.809;QD=3.11;ReadPosRankSum=3.7;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:426,0:426:99:.:.:0,120,1800:.	4	0	1	1
chr11	1096281	1096281	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214153480	3.5e-05	4.452e-05	3.594e-05	3.402e-05	6.483e-05	2.71e-05	2.397e-05	1.61e-05	1.36e-05	6.483e-05	2.871e-05	0.0005	5.835e-05	4.782e-05	0	2.345e-05	5.282e-05	2.593e-05	5.329e-05	0.0001	3.905e-05	6.821e-05	6.64e-05	2.588e-05	1.852e-05	1.983e-05	1.132e-05	4.902e-05	0	6.64e-05	0.0003	0	0	0	5.928e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1296.83	212	chr11	1096281	.	C	T	1296.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.943;DP=2671;ExcessHet=0;FS=8.867;MLEAC=1;MLEAF=0.083;MQ=56.16;MQRankSum=-0.163;QD=6.12;ReadPosRankSum=1.14;SOR=0.329	GT:AD:DP:GQ:PL	0/0:491,0:491:99:0,120,1800	5	0	1	0
chr11	1096363	1096363	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.848e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1310.83	370	chr11	1096363	.	C	T	1310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.826;DP=2180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.02;MQRankSum=1.04;QD=3.54;ReadPosRankSum=-1.254;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:446,0:446:99:.:.:0,120,1800:.	5	0	1	0
chr11	1096464	1096464	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428478288	0.0001	0.0024	0.0001	0.0001	0.0009	0.0001	0.0001	0.0004	0.0002	0	5.795e-05	0.0002	2.921e-05	2.862e-05	0.0009	0.0001	0.0002	7.793e-05	0.0006	0.0017	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0001	0	0.0006	0.0026	0	0	0	0.0008	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	229.83	195	chr11	1096464	.	C	A	229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.671;DP=1561;ExcessHet=0;FS=21.21;MLEAC=1;MLEAF=0.083;MQ=52.25;MQRankSum=-1.439;QD=0.88;ReadPosRankSum=-1.688;SOR=2.271	GT:AD:DP:GQ:PL	0/1:229,33:262:99:240,0,6212	5	0	1	0
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1471.7	119	chr11	1096594	.	C	A	1471.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.676;DP=748;ExcessHet=0;FS=4.448;MLEAC=1;MLEAF=0.1;MQ=54.4;MQRankSum=0.984;QD=12.37;ReadPosRankSum=1.76;SOR=0.634	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	4	0	1	1
chr11	1096623	1096623	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8e-05	1.668e-05	1.299e-05	2.31e-05	0.0002	1.179e-05	1.006e-05	6.394e-05	4.153e-05	0	0	0.0005	0.0002	0	0.0002	4.23e-06	1.935e-05	0	0	2.108e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1235.7	97	chr11	1096623	.	C	A	1235.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.048;DP=725;ExcessHet=0;FS=5.372;MLEAC=1;MLEAF=0.1;MQ=53.75;MQRankSum=0.552;QD=12.74;ReadPosRankSum=-0.971;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:166,0:166:99:.:.:0,120,1800:.	4	0	1	1
chr11	1096638	1096638	-	CACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.822e-05	0.0002	6.71e-05	0.0001	0.0001	7.284e-05	6.712e-05	6.503e-05	5.575e-05	8.342e-05	7.575e-05	0.0002	0	0.0004	0	7.757e-05	9.64e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1367.64	52	chr11	1096638	.	G	GCACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC	1367.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.746;DP=657;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=53.86;MQRankSum=0.066;QD=11.12;ReadPosRankSum=-1.299;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,57:123:99:0|1:1096638_G_GCACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC:1376,0,1900:1096638	3	0	1	2
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1786.7	52	chr11	1096645	.	C	A	1786.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.235;DP=554;ExcessHet=0;FS=0.71;MLEAC=1;MLEAF=0.1;MQ=54.18;MQRankSum=1.49;QD=14.53;ReadPosRankSum=0.78;SOR=0.818	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	4	0	1	1
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	144.13	17	chr11	1096743	.	T	C	144.13	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.11;DP=170;ExcessHet=1.383;FS=45.978;MLEAC=2;MLEAF=0.2;MQ=49.86;MQRankSum=-0.637;QD=2.06;ReadPosRankSum=-1.294;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:25,0:25:0:.:.:0,0,185:.	3	0	2	1
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	144.13	17	chr11	1096743	.	T	*	144.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.11;DP=170;ExcessHet=1.383;FS=45.978;MLEAC=1;MLEAF=0.1;MQ=49.86;MQRankSum=-0.637;QD=2.06;ReadPosRankSum=-1.294;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:25,0:25:0:.:.:0,0,185:.	4	0	1	1
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	77.75	16	chr11	1096749	.	C	G	77.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.39;DP=179;ExcessHet=0;FS=14.472;MLEAC=1;MLEAF=0.1;MQ=42.52;MQRankSum=-1.361;QD=4.86;ReadPosRankSum=-1.793;SOR=2.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:57:.:.:0,57,855:.	4	0	1	1
chr11	1097286	1097286	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0679471784489	.	.	.	.	.	.	.	.	.	.	9.06e-05	14	154602	.	5.594e-05	0.0002	6.037e-05	5.16e-05	0.0007	4.388e-05	4.013e-05	0.0005	0.0004	0.0007	0	0	9.006e-05	2.993e-05	0.0004	3.026e-05	0.0002	1.361e-05	0.0002	0.0004	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	0.0002	0	0	0	0	5.48e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.218133	0.343750	0.076667	0.103306	0.416667	0.173077	0.279279	0.209677	0.08333	78.83	166	chr11	1097286	.	C	T	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.376;DP=892;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.45;MQRankSum=0.626;QD=0.47;ReadPosRankSum=-2.134;SOR=0.613	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	5	0	1	0
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1236.79	82	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	1236.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=844;ExcessHet=0;FS=3.466;MLEAC=1;MLEAF=0.083;MQ=35.53;MQRankSum=-1.6;QD=8.03;ReadPosRankSum=-0.708;SOR=0.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	5	0	1	0
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.133534	0.168421	0.108696	0.100000	0.071429	0.040000	0.158654	0.148438	0.25	107.25	105	chr11	1097434	.	C	T	107.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.731;DP=762;ExcessHet=0;FS=9.501;MLEAC=2;MLEAF=0.5;MQ=39.09;MQRankSum=-1.349;QD=1.04;ReadPosRankSum=3.79;SOR=0.811	GT:AD:DP:GQ:PL	./.:147,0:147:0:0,0,2377	1	0	1	4
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1941.71	95	chr11	1097542	.	C	T	1941.71	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.06;DP=603;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=49.77;MQRankSum=3.29;QD=20.88;ReadPosRankSum=0.785;SOR=0.836	GT:AD:DP:GQ:PL	./.:116,0:116:0:0,0,939	2	1	0	3
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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	111.55	95	chr11	1097584	.	C	T	111.55	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.79;DP=625;ExcessHet=0;FS=0.932;MLEAC=1;MLEAF=0.167;MQ=52.92;MQRankSum=-3.632;QD=0.71;ReadPosRankSum=2.24;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:116,0:116:0:.:.:0,0,939:.	2	0	1	3
chr11	1097656	1097656	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402481326	7.139e-05	0.0003	7.012e-05	7.268e-05	0.0002	5.905e-05	5.44e-05	5.727e-05	5.217e-05	3.547e-05	2.957e-05	8.619e-05	3.205e-05	0.0002	0.0002	7.125e-05	0.0001	1.358e-05	0.0001	0.0004	0.0001	0.0001	0.0007	8.285e-05	6.64e-05	0.0001	6.151e-05	0	0	0	0	0.0003	0.0005	0	0.0002	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	874.83	165	chr11	1097656	.	G	A	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.229;DP=1172;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.083;MQ=50.67;MQRankSum=3.09;QD=5.3;ReadPosRankSum=0.269;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:262,0:262:99:.:.:0,120,1800:.	5	0	1	0
chr11	1097694	1097694	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.326e-06	6.199e-06	3.072e-06	1.565e-06	0.0002	6.2e-07	1.7e-07	.	.	3.398e-05	0	0	0	0	0.0002	1.001e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	160	chr11	1097694	.	C	G	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=1257;ExcessHet=0;FS=0.809;MLEAC=1;MLEAF=0.083;MQ=48.16;MQRankSum=2.53;QD=4.08;ReadPosRankSum=-1.529;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:255,0:255:99:.:.:0,120,1800:.	5	0	1	0
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	117.73	63	chr11	1097805	.	C	A	117.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.531;DP=469;ExcessHet=0.4139;FS=8.798;MLEAC=2;MLEAF=0.2;MQ=33.9;MQRankSum=1.02;QD=0.88;ReadPosRankSum=-0.372;SOR=2.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	3	0	2	1
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	241.7	81	chr11	1098120	.	C	A	241.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.785;DP=563;ExcessHet=0;FS=1.656;MLEAC=1;MLEAF=0.1;MQ=35.45;MQRankSum=2.91;QD=2.98;ReadPosRankSum=-0.561;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:142,0:142:99:.:.:0,120,1800:.	4	0	1	1
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	219.9	74	chr11	1098124	.	C	T	219.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.835;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=34.53;MQRankSum=2.78;QD=2.97;ReadPosRankSum=-1.282;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:136,0:136:0:.:.:0,0,3162:.	2	0	1	3
chr11	1098596	1098596	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4e-05	2.395e-05	2.297e-05	2.505e-05	0.0002	1.712e-05	1.506e-05	1.062e-05	3.97e-06	6.413e-05	5.669e-05	0.0006	0	0	0.0002	8.42e-06	8.719e-05	0	2.319e-05	2.042e-05	1.502e-05	3.187e-05	7.758e-05	6.16e-06	2.71e-06	.	.	0	0	7.758e-05	0.0003	0	0	0	1.638e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	498.83	145	chr11	1098596	.	G	C	498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.567;DP=1535;ExcessHet=0;FS=8.785;MLEAC=1;MLEAF=0.083;MQ=47.35;MQRankSum=1.7;QD=3.44;ReadPosRankSum=2.98;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:274,0:274:99:.:.:0,120,1800:.	5	0	1	0
chr11	1098734	1098734	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.223e-06	1.716e-05	6.144e-06	6.305e-06	3.059e-05	2.68e-06	1.94e-06	.	.	0	3.059e-05	0.0002	0	0	0	9.901e-07	3.806e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	314.83	99	chr11	1098734	.	G	C	314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.558;DP=1008;ExcessHet=0;FS=8.389;MLEAC=1;MLEAF=0.083;MQ=38.83;MQRankSum=0.719;QD=3.18;ReadPosRankSum=-1.078;SOR=0.55	GT:AD:DP:GQ:PL	0/0:213,0:213:99:0,120,1800	5	0	1	0
chr11	1098815	1098815	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390418201	0.0005	0.0009	0.0005	0.0005	0.0024	0.0005	0.0005	0.0019	0.0017	0.0015	0.0011	0.0011	0.0024	0.0009	0.0008	0.0003	0.0007	0.0011	6.069e-05	0.0002	3.068e-05	9.004e-05	0.0001	2.016e-05	1.154e-05	2.534e-05	1.009e-05	0.0001	0	0	0	0	0	0	5.79e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	555.83	103	chr11	1098815	.	G	A	555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.052;DP=919;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.78;MQRankSum=-0.362;QD=5.4;ReadPosRankSum=1.25;SOR=0.761	GT:AD:DP:GQ:PL	0/0:193,0:193:99:0,120,1800	5	0	1	0
chr11	1099366	1099366	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1251.17	69	chr11	1099366	.	T	*	1251.17	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.276;DP=1706;ExcessHet=0.6695;FS=1.208;MLEAC=1;MLEAF=0.167;MQ=54.87;MQRankSum=-0.237;QD=2.81;ReadPosRankSum=-1.173;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,84:324:99:0|1:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:1706,0,8157:1099365	2	0	1	3
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	20062.4	51	chr11	1099370	.	G	*	20062.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=1775;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.07;MQRankSum=-0.862;QD=19.92;ReadPosRankSum=0.996;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,293:400:99:1|0:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:6900,2730,2865:1099365	5	0	1	0
chr11	1099733	1099733	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0022	0.0009	0.0020	0	0.0009	0.0016	0	0.0081	0.002238	346	154602	rs9735156	0.0019	0.0021	0.0017	0.0021	0.0073	0.0019	0.0019	0.0069	0.0067	0.0002	0.0020	3.92e-05	0.0002	0.0007	0.0005	0.0018	0.0014	0.0073	0.0016	0.0019	0.0014	0.0018	0.0093	0.0014	0.0014	0.0071	0.0063	0.0007	0	0.0031	0	0.0002	0.0015	0	0.0015	0.0019	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3146.83	38	chr11	1099733	.	T	C	3146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.85;DP=1191;ExcessHet=0;FS=6.951;MLEAC=1;MLEAF=0.083;MQ=57.34;MQRankSum=0.926;QD=10.63;ReadPosRankSum=0.439;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:360,0:360:99:.:.:0,120,1800:.	5	0	1	0
chr11	1099742	1099742	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0007	0.0001811	28	154602	rs781429181	8.902e-06	3.079e-05	1.09e-05	6.884e-06	0.0002	4.97e-06	3.83e-06	7.42e-06	3.32e-06	0	4.476e-05	0	0	0	0.0002	9.001e-06	0	0	1.315e-05	7.222e-05	1.286e-05	1.344e-05	2.41e-05	2.18e-06	8.2e-07	.	.	2.41e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3294.83	38	chr11	1099742	.	C	A	3294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.669;DP=1168;ExcessHet=0;FS=5.124;MLEAC=1;MLEAF=0.083;MQ=58.08;MQRankSum=-0.496;QD=11.64;ReadPosRankSum=2.06;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:360,0:360:99:.:.:0,120,1800:.	5	0	1	0
chr11	1108182	1108182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	399	1110	13	0	0	13	0.00582176	.	.	.	2806474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0124149248463	0.0024	0.00179712	0.0020	0.0006	0.0023	0.0002	0.0003	0.0028	0.0034	0.0005	0.001934	299	154602	rs72655352	0.0022	0.0022	0.0022	0.0022	0.0080	0.0022	0.0021	0.0061	0.0055	0.0005	0.0021	0.0054	0	0.0002	0.0080	0.0024	0.0030	0.0008	0.0018	0.0018	0.0020	0.0017	0.0031	0.0017	0.0016	0.0024	0.0021	0.0005	0	0.0031	0.0055	0	9.416e-05	0.0034	0.0026	0.0066	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.013587	0.005882	0.000000	0.000000	0.006098	0.003788	0.08333	875.83	37	chr11	1108182	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.395;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.167;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1012	5	0	1	0
chr11	1194532	1194532	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon35:c.G15052A:p.G5018S	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.997e-05	0.0002	0	0	0	1.815e-05	0	0	1.29e-05	2	154602	rs752217127	2.128e-05	2.227e-05	2.164e-05	2.097e-05	0.0003	1.187e-05	9.14e-06	0.0001	7.173e-05	0.0003	4.587e-05	0	2.778e-05	8.013e-05	0.0002	2.867e-06	0	0	9.188e-05	9.185e-05	8.991e-05	9.395e-05	0.0002	5.521e-05	4.36e-05	0.0001	9.908e-05	0.0002	0	6.53e-05	0	0	0.0002	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	0.46928	.	.	.	.	.	.	.	0.38122946	0.54209	T	.	.	.	.	.	.	.	0.338110398507	0.33423	0.6199549918526429	0.61928	.	.	.	.	.	0.382621	0.74467	T	-0.291366	0.09499	T	-0.36616	0.37338	T	.	.	.	.	.	.	0.14839765	0.33881	0.3339079	0.59222	0.14839765	0.33881	0.3339079	0.59221	-8.252	0.62774	D	.	.	0.123	0.25785	B	.	.	4.205546	0.63499	24.6	0.80596278560226076	0.13278	0.98756	0.86450	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999783186851	0.74766	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.948442	0.61510	4.83	4.83	0.61880	5.073000	0.64223	9.748000	0.81461	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	18.184	0.89721	.	.	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.08333	1503.83	121	chr11	1194532	.	G	A	1503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.793;DP=331;ExcessHet=0;FS=2.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.029;SOR=0.962	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	5	0	1	0
chr11	1195145	1195174	GCCCACCACGGTCGGGCCCACCACAGTTGG	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon36:c.15324_15353del:p.P5109_G5118del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	7.033e-05	3.84e-05	1	26028	rs758606605	0.0004	0.0004	0.0005	0.0004	0.0005	0.0004	0.0004	0.0002	0.0002	5.66e-05	2.29e-05	0.0068	0	2.676e-05	0.0005	0.0003	0.0007	7.17e-05	0.0003	0.0003	0.0004	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	7.533e-05	0	0	0.0050	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2939.79	123	chr11	1195144	.	CGCCCACCACGGTCGGGCCCACCACAGTTGG	C	2939.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=698;ExcessHet=0;FS=3.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.234;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,93:234:99:0|1:1195109_A_C:2950,0,5200:1195109	5	0	1	0
chr11	1231461	1231461	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon14:c.G1579A:p.V527M	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0435303294222	.	.	1.744e-05	0	0	0	0	1.579e-05	0	6.345e-05	1.29e-05	2	154602	rs754250371	7.536e-06	9.577e-06	6.816e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	9.26e-06	4.57e-06	0	2.242e-05	0	0	0	0.0002	4.498e-06	1.658e-05	3.485e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.44358	D	.	.	.	0.969	0.56768	D	0.379	0.43814	B	.	.	.	.	1	0.08975	N	1.42	0.35681	L	0.17	0.60485	T	-1.84	0.43149	N	0.169	0.17966	-0.8009	0.55092	T	0.212	0.57241	T	9	0.15442783	0.29130	T	0.04353	0.61028	D	0.118	0.32913	.	.	0.082315109003	0.07666	0.6195303757760012	0.61886	.	.	0.395898729563	0.24498	T	0.022742	0.17478	T	-0.238717	0.15513	T	-0.580677	0.14484	T	0.0807908693855277	0.10088	T	0.791921	0.43319	T	0.05749058	0.11447	0.10404642	0.24980	0.05749058	0.11446	0.10404642	0.24980	-5.905	0.45478	T	.	.	0.103	0.18289	B	.	.	1.978420	0.25134	16.65	0.59312441945559491	0.06195	0.01651	0.05302	N	AEFDBI	0.065097	0.12677	N	-0.600526210263336	0.18929	0.9867002	-0.875440941916954	0.12677	0.6535142	0.00122816160781802	0.08353	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.73	-4.67	0.03080	-1.114000	0.03404	-0.236000	0.10634	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4473:0.2475:0.3052:0.0	6.806	0.22963	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1369.83	100	chr11	1231461	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=303;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.466;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	5	0	1	0
chr11	1241507	1241507	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C4627G:p.Q1543E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.024647069914	.	.	1.711e-05	0.0001	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs763955261	9.581e-06	9.577e-06	8.17e-06	1.101e-05	0.0003	5.56e-06	4.35e-06	0.0001	8.676e-05	0.0002	0	0	0	0	0.0003	0	6.627e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.455	0.36767	L	2.35	0.16217	T	-1.13	0.29114	N	0.109	0.09490	-0.9372	0.43057	T	0.024	0.10103	T	9	0.07593781	0.11800	T	0.024647	0.47637	T	0.006	0.00375	.	.	0.110392049598	0.10638	0.9435101424908215	0.94333	.	.	0.292951345444	0.09354	T	0.013623	0.11750	T	-0.356061	0.04358	T	-0.749234	0.03516	T	0.0770029318427887	0.09600	T	0.278972	0.04839	T	0.06804908	0.14793	0.06676142	0.13721	0.06804908	0.14792	0.06676142	0.13720	-5.481	0.41690	T	.	.	0.089	0.12037	B	.	.	0.197812	0.05832	2.271	0.39014475308141483	0.02666	0.03982	0.09398	N	AEFBI	0.122943	0.23831	N	-1.21877269452662	0.04728	0.2139991	-1.35898842971619	0.03701	0.1731849	0.00479994157043053	0.10715	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.05	-7.14	0.01374	-2.509000	0.01036	-2.775000	0.03374	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5149:0.1382:0.2068:0.1401	2.600	0.04570	970	0.06235	WxxW 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	.	.	.	.	.	.	.	.	0.08333	1908.83	115	chr11	1241507	.	C	G	1908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.632;DP=362;ExcessHet=0;FS=0.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.05;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr11	1242824	1242824	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C5944G:p.P1982A	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00204751639038	.	.	0.0004	0.0010	0.0002	0.0007	0.0005	0.0003	0	0.0004	3.84e-05	1	26028	rs2943508	0.0003	0.0017	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0005	0.0030	0.0002	0.0008	0.0005	0.0001	0.0007	0.0003	0.0010	0.0026	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0019	0.0025	0	0.0007	0.0020	0.0004	0.0005	0	0.0002	0.0010	0.0004	0.451	0.08969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.31	0.00704	N	2.2	0.18570	T	-0.36	0.13035	N	0.035	0.01004	-0.9975	0.30618	T	0.021	0.08732	T	9	0.011864901	0.00257	T	0.002048	0.03748	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.1337540641421184	0.13299	.	.	0.186318874359	0.00167	T	0.021853	0.16945	T	-0.731628	0.00023	T	-0.864242	0.00798	T	0.00157244652876611	0.00016	T	0.393961	0.09832	T	0.016689507	0.00215	0.03362263	0.02287	0.016689507	0.00215	0.03362263	0.02286	1.354	0.00095	T	.	.	0.048	0.00082	B	.	.	-1.101744	0.00638	0.017	0.5472258365673961	0.05195	0.00061	0.00447	N	AEFI	0.022417	0.01117	N	-1.81075945752716	0.00519	0.02235286	-1.90839802135919	0.00471	0.02086687	0.00724884832373696	0.11420	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.2	-4.39	0.03360	-4.721000	0.00225	-5.355000	0.01750	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.101:0.5607:0.2191:0.1191	5.956	0.18508	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	.	.	.	.	.	.	.	.	0.08333	41.83	158	chr11	1242824	.	C	G	41.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.957;DP=1233;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=55.74;MQRankSum=-9.954;QD=0.08;ReadPosRankSum=0.085;SOR=0.543	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	5	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	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	0	0	.	.	.	.	.	.	.	.	0.08333	4614.09	152	chr11	1243062	.	C	G	4614.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=884;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.78;MQRankSum=-0.015;QD=11.86;ReadPosRankSum=-0.887;SOR=0.673	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	5	0	1	0
chr11	1243086	1243086	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6206T:p.T2069M	.	426	1094	2	0	0	2	0.000913242	.	.	.	2806528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	0.00106693567636	0.0008	0.000199681	0.0011	0.0001	0	0	0	0.0019	0	0.0004	0.0008926	138	154602	rs200274332	0.0007	0.0007	0.0007	0.0007	0.0005	0.0006	0.0006	0.0004	0.0004	5.978e-05	0.0003	0.0132	0.0001	7.501e-05	0.0002	0.0005	0.0013	0.0003	0.0006	0.0006	0.0007	0.0005	0.0006	0.0005	0.0005	0.0005	0.0004	9.671e-05	0	0.0001	0.0110	0	0	0	0.0006	0.0019	0.0004	0.017	0.51248	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.11	0.19860	T	-0.63	0.18459	N	0.102	0.08506	-1.0517	0.13926	T	0.037	0.15856	T	9	0.005821556	0.00130	T	0.001067	0.01239	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.28043873028528377	0.27956	.	.	0.228497773409	0.01859	T	0.023063	0.17673	T	-0.603127	0.00140	T	-0.70112	0.05764	T	0.0287645255378531	0.01801	T	0.519248	0.16884	T	0.020814711	0.00654	0.033245776	0.02187	0.020814711	0.00654	0.033245776	0.02187	-7.847	0.60022	D	.	.	0.098	0.16099	B	.	.	1.412233	0.18276	13.65	0.26092160421344807	0.01233	0.00332	0.01732	N	AEFI	0.025745	0.01815	N	-0.763962865962158	0.14257	0.7086992	-1.05345838246279	0.08635	0.4255293	2.32517762863591E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.11	-2.16	0.06684	0.746000	0.25942	-0.247000	0.10539	0.439000	0.21057	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.2613:0.5331:0.0:0.2056	3.159	0.06122	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	.	.	.	.	.	.	.	.	0.08333	241.83	120	chr11	1243086	.	C	T	241.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.83;DP=766;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.083;MQ=46.42;MQRankSum=-5.392;QD=1.77;ReadPosRankSum=-1.338;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:192,0:192:99:.:.:0,120,1800:.	5	0	1	0
chr11	1243403	1243455	ACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.6523_6575del:p.T2175Hfs*66	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	0.0002689	7	26028	.	0.0044	0.0062	0.0046	0.0042	0.0049	0.0043	0.0043	0.0048	0.0047	0.0005	0.0005	0.0038	0	0.0102	0.0008	0.0049	0.0037	0.0009	0.0011	0.0027	0.0011	0.0010	0.0014	0.0009	0.0009	0.0012	0.0011	0.0006	0	0.0004	0.0012	0	0.0024	0	0.0014	0.0021	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	70.79	100	chr11	1243402	.	CACAGTGACTCCCTCCTCTGCCCTAGGGACCACCCACACACCCCCAGTGCCGAA	C	70.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.462;DP=598;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.92;MQRankSum=-1.976;QD=2.15;ReadPosRankSum=-0.885;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,120,1800:.	5	0	1	0
chr11	1243709	1243709	A	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A6829T:p.T2277S	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00398141172649	.	0.000998403	0.0009	0	8.643e-05	0	0	3.005e-05	0	0.0067	0.0001921	5	26028	rs566783011	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	2.519e-05	0	0.0021	1.259e-05	0.0004	0.0066	0.0002	0.0002	6.503e-05	0.0003	0.0062	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0	0	0	0.0062	0.378	0.11262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.77	0.25841	T	-0.48	0.15379	N	0.068	0.04072	-1.0267	0.21527	T	0.054	0.22959	T	9	0.0059332848	0.00133	T	0.003981	0.09431	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.2536995402099471	0.25283	.	.	0.205650538206	0.00640	T	0.024053	0.18250	T	-0.590838	0.00166	T	-0.618306	0.11317	T	0.0148934294328664	0.00316	T	0.242476	0.03503	T	0.029871758	0.02553	0.032949828	0.02110	0.029871758	0.02553	0.032949828	0.02109	-4.04	0.24400	T	.	.	0.160	0.35393	B	.	.	0.685435	0.10542	7.250	0.90342315894487868	0.19607	0.00900	0.03527	N	AEFI	0.042798	0.06686	N	-0.808591940972911	0.13090	0.6424752	-0.9173952337723	0.11684	0.596749	1.28984583444717E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.99	1.6	0.22686	1.304000	0.33087	-3.234000	0.02948	0.528000	0.24546	0.012000	0.18695	0.000000	0.08366	0.025000	0.12405	0.8629:0.0:0.1371:0.0	7.308	0.25631	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2052.83	36	chr11	1243709	.	A	T	2052.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.583;DP=518;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=59.49;MQRankSum=2.18;QD=14.46;ReadPosRankSum=-0.898;SOR=0.947	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	5	0	1	0
chr11	1243991	1243991	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7111T:p.R2371W	.	.	.	.	.	.	.	.	.	.	.	3561574	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.00593006707451	.	.	0.0001	0	0	0.0023	0	0	0	0	3.84e-05	1	26028	rs534201099	0.0001	0.0002	0.0001	9.964e-05	0.0005	9.454e-05	8.933e-05	0.0004	0.0003	0.0001	2.248e-05	0	0.0005	1.901e-05	0	0.0001	0.0001	9.295e-05	7.266e-05	7.23e-05	7.751e-05	6.759e-05	0.0002	3.992e-05	3.142e-05	6.936e-05	5.111e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	2.25	0.17761	T	-2.48	0.54059	N	0.125	0.11769	-0.9614	0.38916	T	0.051	0.21844	T	9	0.023324668	0.00607	T	0.00593	0.15460	T	0.103	0.29403	.	.	0.043077524339	0.03247	0.5390046373407714	0.53825	.	.	0.384903311729	0.22949	T	0.020197	0.15948	T	-0.507232	0.00520	T	-0.64637	0.09211	T	0.141237691044807	0.16382	T	0.773423	0.40508	T	0.0783792	0.17846	0.12713356	0.30609	0.0783792	0.17845	0.12713356	0.30609	-5.238	0.39326	T	.	.	0.142	0.31125	B	.	.	0.028015	0.04481	1.193	0.85601857081855226	0.15995	0.00487	0.02312	N	AEFI	0.129253	0.24735	N	-1.20308313001095	0.04954	0.2247633	-1.52174567042142	0.02177	0.09974736	0.45582337350233	0.20581	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.54	-7.08	0.01404	-5.077000	0.00181	-20.000000	0.00162	-1.481000	0.01058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1787:0.577:0.1684:0.0758	8.846	0.34329	970	0.06235	WxxW 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	.	.	.	.	.	.	.	.	0.08333	36.83	35	chr11	1243991	.	C	T	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=256;ExcessHet=0;FS=30.562;MLEAC=1;MLEAF=0.083;MQ=31.25;MQRankSum=-3.221;QD=0.71;ReadPosRankSum=1.37;SOR=2.51	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	5	0	1	0
chr11	1244763	1244763	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G7883T:p.R2628L	.	422	1088	12	0	0	12	0.00548446	.	.	.	2393987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.000668629977859	.	.	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002846	44	154602	rs201153963	7.285e-05	0.0017	7.796e-05	6.769e-05	0.0002	6.142e-05	5.726e-05	6.437e-05	5.935e-05	8.985e-05	4.497e-05	0	0	0	0.0002	7.767e-05	0.0001	5.809e-05	0.0002	0.0064	0.0002	0.0002	0.0002	0.0001	9.879e-05	0.0001	0.0001	0.0002	0	6.582e-05	0.0003	0	0	0	0.0002	0	0	0.271	0.15984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	-0.48	0.15379	N	0.086	0.06322	-1.0386	0.17740	T	0.031	0.13155	T	9	0.056725234	0.06404	T	6.69E-4	0.00383	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.2921260695239488	0.29125	.	.	0.186647862196	0.00171	T	0.022851	0.17544	T	-0.473443	0.00809	T	-0.736317	0.04047	T	0.029850899699308	0.01967	T	0.178782	0.01763	T	0.03685515	0.04613	0.05646688	0.10095	0.03685515	0.04612	0.05646688	0.10094	1.452	0.00086	T	.	.	0.114	0.22717	B	.	.	-1.223093	0.00508	0.011	0.52013723781534171	0.04668	0.00708	0.02999	N	AEFI	0.059239	0.11175	N	-1.70259080793403	0.00833	0.03600691	-1.8455150810957	0.00624	0.0277433	1.37673941154237E-4	0.05486	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.76	-3.52	0.04383	-3.415000	0.00532	-1.264000	0.05871	-5.321000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.5233:0.2698:0.0	7.567	0.27054	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	.	.	.	.	.	.	.	.	0.08333	343.83	45	chr11	1244763	.	G	T	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.225;DP=661;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.083;MQ=52.65;MQRankSum=-8.239;QD=0.82;ReadPosRankSum=2.68;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,120,1800:.	5	0	1	0
chr11	1244777	1244777	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7897C:p.W2633R	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000436924540565	.	.	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	6.058e-05	3.84e-05	1	26028	rs774768277	6.185e-06	0.0016	4.103e-06	8.288e-06	7.224e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	1.906e-05	0	7.224e-06	0	0	0.0001	0.0065	0.0001	9.605e-05	0.0002	6.64e-05	5.427e-05	0.0001	9.179e-05	2.442e-05	0	6.585e-05	0	0	9.964e-05	0	0.0002	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.0	0.21473	T	-0.82	0.22508	N	0.039	0.01274	-1.0070	0.27850	T	0.017	0.06950	T	9	0.051469415	0.05033	T	4.37E-4	0.00099	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.3131512029563216	0.31228	.	.	0.183986455202	0.00136	T	0.022518	0.17347	T	-0.355514	0.04390	T	-0.748448	0.03546	T	0.0561389739529774	0.06547	T	0.09979	0.00741	T	0.122071005	0.28693	0.10221244	0.24491	0.122071005	0.28693	0.10221244	0.24490	-5.564	0.42462	T	.	.	0.073	0.04681	B	.	.	0.271837	0.06494	2.973	0.31848576285588981	0.01816	0.00106	0.00678	N	AEFI	0.024663	0.01565	N	-1.89331361441333	0.00354	0.01522118	-1.98516358587488	0.00329	0.01452942	6.91002621139919E-4	0.07622	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.36	-2.72	0.05616	-0.553000	0.06104	-9.992000	0.00752	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.3105:0.2348:0.315	1.026	0.01433	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	.	.	.	.	.	.	.	.	0.08333	430.83	45	chr11	1244777	.	T	C	430.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.203;DP=632;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.083;MQ=52.23;MQRankSum=-7.905;QD=1.1;ReadPosRankSum=0.551;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,120,1800:.	5	0	1	0
chr11	1245213	1245213	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C8333T:p.T2778I	.	613	907	2	0	0	2	0.00110132	.	.	.	3415712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000966906910766	.	.	0.0003	0.0019	0	0.0008	0	0.0002	0	0.0003	0.0002305	6	26028	rs201587515	0.0010	0.0081	0.0010	0.0010	0.0029	0.0010	0.0010	0.0025	0.0023	0.0029	0.0004	0.0008	0.0002	0.0048	0.0002	0.0009	0.0009	0.0004	0.0018	0.0047	0.0019	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0025	0	0.0004	0.0022	0	0.0022	0	0.0019	0.0005	0.0007	0.008	0.58626	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.13	0.19588	T	-0.79	0.21860	N	0.071	0.04426	-1.0382	0.17863	T	0.037	0.15986	T	9	0.023375303	0.00610	T	9.67E-4	0.01003	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.30675158290467086	0.30588	.	.	0.274089097977	0.06681	T	0.022435	0.17299	T	-0.348367	0.04831	T	-0.738181	0.03968	T	0.0122050581929686	0.00196	T	0.266473	0.04381	T	0.07363307	0.16468	0.0682227	0.14220	0.07363307	0.16467	0.0682227	0.14219	-3.095	0.11239	T	.	.	0.122	0.25462	B	.	.	0.137309	0.05316	1.808	0.59959044339541645	0.06348	0.01338	0.04604	N	AEFI	0.033206	0.03894	N	-0.727413001277045	0.15253	0.7671319	-0.975088836857857	0.10346	0.5205271	7.79414524778878E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.968	-0.087	0.13014	-0.997000	0.03816	0.217000	0.16029	0.394000	0.20511	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7768:0.0:0.2232	5.098	0.14079	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	404.83	19	chr11	1245213	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.3;DP=254;ExcessHet=0;FS=4.934;MLEAC=1;MLEAF=0.083;MQ=35.19;MQRankSum=-0.422;QD=8.61;ReadPosRankSum=-3.052;SOR=1.609	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr11	1246857	1246857	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9977T:p.T3326M	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.000990411457539	.	0.00119808	0.0005	0	0	0.0081	0	4.636e-05	0.0018	0.0002	0.0002305	6	26028	rs567876934	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0041	0.0039	2.991e-05	0.0001	0	0.0046	1.881e-05	0.0002	3.332e-05	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	4.838e-05	0	0	0	0.0066	0	0	2.955e-05	0.0009	0.0006	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.08	0.20255	T	-1.17	0.29933	N	0.088	0.06587	-1.0178	0.24431	T	0.102	0.37618	T	9	0.006779015	0.00154	T	9.9E-4	0.01050	T	0.130	0.35528	.	.	0.043077524339	0.03247	0.2831348234125103	0.28226	.	.	0.265595018864	0.05575	T	0.028268	0.20514	T	-0.650421	0.00072	T	-0.70445	0.05585	T	0.0379257709820799	0.03319	T	0.507849	0.16117	T	0.03527459	0.04120	0.07090993	0.15124	0.03527459	0.04119	0.07090993	0.15123	-8.411	0.63838	D	.	.	0.116	0.23325	B	.	.	1.095303	0.14792	11.33	0.81183498453302272	0.13560	0.03039	0.07929	N	AEFI	0.059769	0.11313	N	-0.377867250243809	0.26258	1.431773	-0.674456688307878	0.17600	0.9366115	2.35663839265529E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.43	0.257	0.14830	-1.388000	0.02638	-1.427000	0.05465	-0.410000	0.05266	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6537:0.3463:0.0	11.095	0.47357	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	117.83	38	chr11	1246857	.	C	T	117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=823;ExcessHet=0;FS=2.954;MLEAC=1;MLEAF=0.083;MQ=38.13;MQRankSum=-3.948;QD=1.1;ReadPosRankSum=-0.094;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:204,0:204:99:.:.:0,120,1800:.	5	0	1	0
chr11	1247226	1247226	-	C	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.10347dupC:p.T3450Hfs*66	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1253784146	0.0034	0.0084	0.0036	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0006	0.0007	0.0028	0	0.0041	0.0006	0.0039	0.0030	0.0009	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	8.995e-05	0.0001	9.318e-05	0.0001	0	0.0001	0	0	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	48.79	38	chr11	1247226	.	A	AC	48.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=899;ExcessHet=0;FS=7.921;MLEAC=1;MLEAF=0.083;MQ=52.64;MQRankSum=-5.877;QD=0.3;ReadPosRankSum=-3.905;SOR=1.748	GT:AD:DP:GQ:PL	0/0:204,0:204:99:0,120,1800	5	0	1	0
chr11	1247967	1247967	T	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T11087A:p.L3696Q	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00130567419808	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs200634059	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0001	0.0006	0	0.0012	0	0.0004	0	0	0.677	0.04469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-0.77	0.21429	N	0.153	0.15749	-1.0257	0.21853	T	0.026	0.10954	T	9	0.063252956	0.08211	T	0.001306	0.01809	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.4561208433612859	0.45530	.	.	0.202009737492	0.00517	T	0.017989	0.14581	T	-0.347562	0.04882	T	-0.737025	0.04017	T	0.0346272595397258	0.02744	T	0.470553	0.13922	T	0.08773653	0.20442	0.07224727	0.15564	0.08773653	0.20441	0.07224727	0.15564	-5.376	0.40688	T	.	.	0.085	0.10400	B	.	.	-0.215227	0.03013	0.458	0.55347902546256733	0.05324	0.00552	0.02527	N	AEFI	0.049393	0.08528	N	-1.75707923278808	0.00659	0.02842352	-1.90214830955848	0.00485	0.02147955	8.7084895263696E-4	0.07931	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.98	-3.96	0.03833	-1.606000	0.02175	-1.921000	0.04493	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1713:0.2842:0.0:0.5444	3.623	0.07646	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.83	39	chr11	1247967	.	T	A	100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.045;DP=408;ExcessHet=0;FS=10.792;MLEAC=1;MLEAF=0.083;MQ=54.41;MQRankSum=-5.856;QD=0.7;ReadPosRankSum=-0.207;SOR=1.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1247975	1247975	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A11095G:p.T3699A	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00206599972394	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201830673	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.24e-05	0.0002	0	0.0016	0.0002	0.0001	0.0002	9.315e-05	0.0003	0.0021	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0003	0	0.0004	0.076	0.34269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.835	0.21042	L	1.97	0.22067	T	-0.05	0.07736	N	0.037	0.01135	-1.0235	0.22573	T	0.027	0.11397	T	9	0.028978825	0.01026	T	0.002066	0.03775	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3564674410192791	0.35560	.	.	0.209255039692	0.00780	T	0.02129	0.16605	T	-0.356657	0.04322	T	-0.750089	0.03482	T	0.0880673557329466	0.10986	T	0.429357	0.11628	T	0.027399968	0.01926	0.03371914	0.02313	0.027399968	0.01925	0.03371914	0.02313	-5.817	0.44722	T	.	.	0.072	0.04159	B	.	.	-0.596247	0.01582	0.106	0.21294764149883202	0.00805	0.00237	0.01320	N	AEFI	0.043690	0.06936	N	-2.65331805414328	0.00007	0.0003049135	-2.77925892932195	0.00005	0.0002279892	0.949272003443495	0.27839	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.82	-5.64	0.02269	-1.644000	0.02104	-4.482000	0.02134	-0.998000	0.01821	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2353:0.2501:0.3788:0.1357	1.908	0.03082	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	69.83	39	chr11	1247975	.	A	G	69.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=402;ExcessHet=0;FS=15.858;MLEAC=1;MLEAF=0.083;MQ=54.22;MQRankSum=-5.21;QD=0.51;ReadPosRankSum=1.42;SOR=2.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1247990	1247990	-	CA	exonic	MUC5B	.	frameshift insertion	MUC5B:NM_002458:exon31:c.11110_11111insCA:p.E3704Afs*29	.	421	1092	8	1	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280607510	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.992e-05	2.239e-05	0.0002	0	0.0016	0	0.0001	0.0002	0.0001	0.0003	0.0022	0.0003	0.0004	0.0004	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0011	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	84.79	39	chr11	1247990	.	G	GCA	84.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.924;DP=390;ExcessHet=0;FS=12.47;MLEAC=1;MLEAF=0.083;MQ=52.71;MQRankSum=-4.524;QD=0.64;ReadPosRankSum=2.85;SOR=2.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1247992	1247993	GT	-	exonic	MUC5B	.	frameshift deletion	MUC5B:NM_002458:exon31:c.11112_11113del:p.E3704Dfs*233	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1250894594	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	2.999e-05	2.241e-05	0.0002	0	0.0015	0	0.0001	0.0003	0.0001	0.0004	0.0023	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0.0012	0	0.0005	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	81.79	39	chr11	1247991	.	AGT	A	81.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.773;DP=391;ExcessHet=0;FS=12.237;MLEAC=1;MLEAF=0.083;MQ=52.35;MQRankSum=-4.379;QD=0.61;ReadPosRankSum=3.18;SOR=2.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1248015	1248015	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11135T:p.P3712L	.	425	1088	8	1	0	10	0.00457457	.	.	.	2806586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00163941383286	.	.	0.0001	0.0001	8.655e-05	0.0009	0	3.045e-05	0	0	6.5e-06	1	154602	rs768796024	0.0004	0.0058	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	9.036e-05	6.747e-05	0.0002	0.0005	0.0025	0.0009	0.0003	0.0003	0.0003	0.0006	0.0031	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0003	0.0003	0.0006	0.0016	0	0.0008	0	0.0006	0.483	0.08164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.415	0.35607	L	2.16	0.19166	T	-1.73	0.41046	N	0.059	0.03069	-1.0216	0.23195	T	0.040	0.17149	T	9	0.025567085	0.00747	T	0.001639	0.02676	T	0.024	0.04979	.	.	0.043077524339	0.03247	0.41931647305188957	0.41847	.	.	0.244248837233	0.03186	T	0.021356	0.16647	T	-0.64035	0.00083	T	-0.766709	0.02878	T	0.0179423793737533	0.00520	T	0.351565	0.07865	T	0.018587694	0.00381	0.036532283	0.03119	0.018587694	0.00381	0.036532283	0.03119	-6.192	0.47858	T	.	.	0.137	0.29860	B	.	.	0.153092	0.05450	1.920	0.81010241590012655	0.13476	0.00591	0.02650	N	AEFI	0.032740	0.03755	N	-0.961840334933017	0.09428	0.4461714	-1.04850934845842	0.08738	0.4311007	1.3978619616351E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.27	1.16	0.19936	-4.892000	0.00202	-2.513000	0.03663	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6728:0.0:0.3272	7.448	0.26395	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	120.83	39	chr11	1248015	.	C	T	120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=378;ExcessHet=0;FS=9.626;MLEAC=1;MLEAF=0.083;MQ=50.03;MQRankSum=-3.61;QD=1;ReadPosRankSum=2.53;SOR=2.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1248063	1248063	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11183T:p.T3728I	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00122992940009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470624633	9.68e-05	0.0003	0.0001	9.108e-05	6.962e-05	8.339e-05	7.877e-05	4.911e-05	4.494e-05	2.992e-05	2.238e-05	0	0	0.0011	0	6.129e-05	0.0001	6.962e-05	0.0002	0.0008	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0002	0	0	0.0003	0	0.0002	0	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.965	0.53209	M	2.08	0.20255	T	-1.16	0.29727	N	0.05	0.02179	-1.0119	0.26322	T	0.042	0.17869	T	9	0.10078734	0.18377	T	0.00123	0.01633	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.3793512509731646	0.37850	.	.	0.32149374485	0.13649	T	0.036303	0.24050	T	-0.479231	0.00747	T	-0.743391	0.03749	T	0.0369545324081952	0.03147	T	0.571443	0.20372	T	0.03850974	0.05144	0.044887517	0.05918	0.03850974	0.05143	0.044887517	0.05917	-5.854	0.45042	T	.	.	0.202	0.42678	B	.	.	1.255567	0.16531	12.60	0.91848487515983446	0.21161	0.00551	0.02524	N	AEFI	0.040960	0.06164	N	-0.900183194118483	0.10838	0.5199271	-1.08075534224448	0.08079	0.3957022	8.89922730734236E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.31	-0.879	0.10076	-0.547000	0.06145	-1.619000	0.05048	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4686:0.3109:0.2205	2.662	0.04722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	89.83	39	chr11	1248063	.	C	T	89.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.14;DP=352;ExcessHet=0;FS=7.986;MLEAC=1;MLEAF=0.083;MQ=44.1;MQRankSum=-2.074;QD=0.97;ReadPosRankSum=-2.842;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	5	0	1	0
chr11	1248480	1248480	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11600G:p.T3867S	.	413	1104	4	1	0	6	0.00271003	.	.	.	2392311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.000647662265824	.	.	9.993e-05	0.0005	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs760255789	0.0004	0.0053	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0001	0.0002	0	0.0021	0	0.0004	0.0005	0.0002	0.0009	0.0041	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0001	0.0012	0	0.0020	0	0.0014	0.0010	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.14	0.19450	T	-0.48	0.15379	N	0.212	0.23632	-1.0498	0.14453	T	0.074	0.30023	T	9	0.09746829	0.17557	T	6.48E-4	0.00350	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.1723493437124335	0.17154	.	.	0.269512474537	0.06077	T	0.020581	0.16179	T	-0.339343	0.05434	T	-0.725219	0.04548	T	0.0284981456361258	0.01762	T	0.215678	0.02687	T	0.0470713	0.07985	0.04731589	0.06787	0.0470713	0.07984	0.04731589	0.06786	-8.368	0.63552	D	.	.	0.141	0.31023	B	.	.	-0.178734	0.03201	0.530	0.66509984805745181	0.08080	0.00607	0.02700	N	AEFI	0.028204	0.02443	N	-0.718821208038785	0.15493	0.7812755	-1.05486022119159	0.08606	0.4239504	0.00247832193061608	0.09461	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.93	-3.86	0.03951	-0.124000	0.10571	-2.521000	0.03653	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4533:0.2628:0.2839	5.418	0.15683	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	624.83	132	chr11	1248480	.	C	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.15;DP=1081;ExcessHet=0;FS=48.695;MLEAC=1;MLEAF=0.083;MQ=52.21;MQRankSum=-6.656;QD=3.83;ReadPosRankSum=-4.174;SOR=4.936	GT:AD:DP:GQ:PL	0/0:244,0:244:99:0,120,1800	5	0	1	0
chr11	1248533	1248533	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11653A:p.R3885S	.	413	1093	16	0	0	16	0.00726612	.	.	.	3547444	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00978435	0.0067	0.0065	0.0016	0	0.0103	0.0088	0.0079	0.0040	0.0003169	49	154602	rs200531133	0.0004	0.0049	0.0005	0.0004	0.0044	0.0004	0.0004	0.0038	0.0036	0.0044	0.0002	7.75e-05	0	0.0035	0	0.0002	0.0005	0.0001	0.0019	0.0076	0.0019	0.0019	0.0041	0.0017	0.0017	0.0036	0.0034	0.0041	0	0.0007	0.0021	0	0.0024	0	0.0010	0.0019	0.0006	0.145	0.25154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.665	0.16292	N	1.65	0.27650	T	-0.29	0.11728	N	0.038	0.01203	-1.0076	0.27665	T	0.048	0.20513	T	9	0.004948646	0.00106	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	0.1732607520863186	0.17246	.	.	0.184156805277	0.00138	T	0.019783	0.15694	T	-0.710598	0.00032	T	-0.791721	0.02118	T	0.0021594767596445	0.00022	T	0.178282	0.01754	T	0.07202977	0.15990	0.055887517	0.09886	0.07202977	0.15990	0.055887517	0.09885	-3.01	0.10289	T	.	.	0.144	0.31733	B	.	.	-2.391566	0.00041	0.001	0.55390806864209352	0.05333	0.01295	0.04505	N	AEFI	0.049243	0.08487	N	-1.10216974858904	0.06605	0.3045007	-1.19833447619775	0.05938	0.2843696	8.94112762282216E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-0.905	0.09992	-3.514000	0.00496	-13.430000	0.00459	-5.602000	0.00009	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1675:0.5686:0.0:0.2639	4.814	0.12722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004782	0.000000	0.004076	0.012295	0.050000	0.000000	0.006135	0.000000	0.08333	606.83	132	chr11	1248533	.	C	A	606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=1150;ExcessHet=0;FS=3.853;MLEAC=1;MLEAF=0.083;MQ=52.03;MQRankSum=-4.994;QD=2.66;ReadPosRankSum=0.257;SOR=1.121	GT:AD:DP:GQ:PL	0/0:244,0:244:99:0,120,1800	5	0	1	0
chr11	1248534	1248534	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11654T:p.R3885L	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00351146321911	0.0011	0.00219649	0.0018	0.0079	0.0010	0.0001	0	0.0006	0.0011	0.0051	9.7e-05	15	154602	rs201915227	0.0010	0.0011	0.0009	0.0012	0.0081	0.0010	0.0010	0.0073	0.0070	0.0081	0.0012	0.0046	0.0003	0.0002	0.0030	0.0003	0.0020	0.0066	0.0028	0.0028	0.0026	0.0030	0.0079	0.0025	0.0025	0.0072	0.0069	0.0079	0	0.0018	0.0058	0.0002	0.0003	0	0.0003	0.0014	0.0046	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.64	0.27822	T	-1.22	0.30964	N	0.092	0.07125	-1.0378	0.17985	T	0.054	0.22770	T	9	0.0058083534	0.00130	T	0.003511	0.07969	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.25239203557179385	0.25153	.	.	0.190345525742	0.00231	T	0.021462	0.16706	T	-0.69051	0.00042	T	-0.759379	0.03135	T	0.00657624414947637	0.00073	T	0.20328	0.02343	T	0.045314126	0.07395	0.0661456	0.13507	0.045314126	0.07395	0.0661456	0.13506	1.136	0.00116	T	.	.	0.133	0.28750	B	.	.	-0.474655	0.01950	0.167	0.5472700598386504	0.05196	0.00168	0.00997	N	AEFI	0.034357	0.04242	N	-1.83466044309801	0.00466	0.02004353	-2.02050203566914	0.00277	0.01222917	0.160872933525117	0.17591	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-5.53	0.02351	-4.821000	0.00211	-9.891000	0.00764	-3.182000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1806:0.2765:0.3941:0.1488	2.791	0.05057	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001063	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1973.83	163	chr11	1248534	.	G	T	1973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.281;DP=1185;ExcessHet=0;FS=1.961;MLEAC=1;MLEAF=0.083;MQ=53.6;MQRankSum=-2.887;QD=12.11;ReadPosRankSum=0.19;SOR=0.866	GT:AD:DP:GQ:PL	0/0:244,0:244:99:0,120,1800	5	0	1	0
chr11	1248954	1248954	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G12074A:p.R4025H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0025	0.00299521	0.0012	0.0152	0.0003	0.0003	0	8.98e-05	0.0023	0	0.0001035	16	154602	rs200048522	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0002	0	2.532e-05	3.832e-05	0.0002	2.529e-05	0.0008	3.49e-05	0.0030	0.0032	0.0032	0.0029	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0010	0	0.0004	0.0001	0	6.038e-05	0.0025	0	0.064	0.36509	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-0.55	0.16799	N	0.083	0.05929	-1.0408	0.17071	T	0.013	0.05177	T	9	0.005078286	0.00110	T	.	.	.	0.046	0.12618	.	.	0.0675242888579	0.06100	0.2798067637427281	0.27893	.	.	0.231693297625	0.02096	T	0.022235	0.17180	T	-0.697299	0.00038	T	-0.766437	0.02887	T	0.00126107770485364	0.00012	T	0.468753	0.13831	T	0.022274068	0.00879	0.03174005	0.01806	0.022274068	0.00879	0.03174005	0.01806	-4.916	0.35914	T	.	.	0.109	0.20972	B	.	.	1.039616	0.14203	10.78	0.92415920496928416	0.21832	0.00805	0.03273	N	AEFI	0.039468	0.05736	N	-1.5565683690123	0.01497	0.06534196	-1.65747898671653	0.01338	0.06037901	5.65100412413444E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.63	-2.95	0.05229	-2.611000	0.00959	-1.775000	0.04749	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1398:0.3187:0.4421:0.0994	4.219	0.10003	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	.	.	.	.	.	.	.	.	0.08333	633.83	34	chr11	1248954	.	G	A	633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.324;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=30.19;MQRankSum=0.609;QD=18.64;ReadPosRankSum=0.721;SOR=0.495	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	263.04	78	chr11	1249171	.	G	*	263.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=473;ExcessHet=0.4139;FS=5.736;MLEAC=1;MLEAF=0.083;MQ=52.91;MQRankSum=-0.925;QD=1.12;ReadPosRankSum=-0.006;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,120,1800:.	5	0	1	0
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.08333	2673.83	156	chr11	1250829	.	G	C	2673.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.429;DP=1202;ExcessHet=0;FS=3.109;MLEAC=1;MLEAF=0.083;MQ=53.26;MQRankSum=-1.7;QD=12.67;ReadPosRankSum=-0.744;SOR=0.495	GT:AD:DP:GQ:PL	0/0:274,0:274:99:0,120,1800	5	0	1	0
chr11	1584727	1584727	-	CTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT	exonic	KRTAP5-1	.	nonframeshift insertion	KRTAP5-1:NM_001005922:exon1:c.522_523insAGGGGCTGTGGCTCCTGTGGAGGCTGCAAGGGGGGCTGCGGTTCTTGTGGGGGCTCCAAG:p.K174_G175insRGCGSCGGCKGGCGSCGGSK	.	0	223	2	0	1	3	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0004	0.0022	0	6.5e-06	1	154602	.	0.0031	0.0045	0.0030	0.0032	0.0036	0.0030	0.0030	0.0035	0.0034	0.0008	0.0015	0.0045	0	0.0019	0.0019	0.0036	0.0041	0.0003	0.0033	0.0055	0.0036	0.0030	0.0063	0.0031	0.0030	0.0058	0.0056	0.0005	0	0.0014	0.0042	0	0.0003	0.0077	0.0063	0.0021	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	702.79	90	chr11	1584727	.	C	CCTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT	702.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.52;MQRankSum=-1.147;QD=14.95;ReadPosRankSum=-3.795;SOR=0.674	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	5	0	1	0
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	113.79	81	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	113.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.095;DP=361;ExcessHet=0;FS=1.036;MLEAC=1;MLEAF=0.083;MQ=58.91;MQRankSum=-6.509;QD=1.81;ReadPosRankSum=0.649;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:98,0:105:99:0|1:1598173_A_G:0,295,4096:1598173	5	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	23371.7	140	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	23371.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=1001;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.4;MQRankSum=-3.847;QD=28.96;ReadPosRankSum=0.341;SOR=0.702	GT:AD:DP:GQ:PL	0/0:0,0:129:99:5142,5142,5142	5	0	1	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.08333	1460.83	35	chr11	1747855	.	G	A	1460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.341;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.698;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	5	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 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	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.08333	822.83	63	chr11	1754122	.	C	T	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.567;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-1.307;SOR=0.691	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	5	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.08333	2289.83	34	chr11	1956322	.	G	A	2289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.1;DP=374;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-2.098;SOR=0.763	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1506	5	0	1	0
chr11	2403286	2403286	C	G	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.C653G:p.P218R,TSSC4:NM_005706:exon3:c.C653G:p.P218R,TSSC4:NM_001297658:exon4:c.C653G:p.P218R,TSSC4:NM_001297660:exon4:c.C653G:p.P218R,TSSC4:NM_001297661:exon4:c.C461G:p.P154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0517748546446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.69154	D	0.999	0.77913	D	0.98	0.74843	D	0.000043	0.53742	U	0.075021	0.940296	0.81001	D	1.965	0.53209	M	1.5	0.35960	T	-3.07	0.63207	D	0.616	0.70615	-0.6932	0.60759	T	0.193	0.54564	T	10	0.38401398	0.54405	T	0.051775	0.64800	D	0.246	0.55340	0.435	0.48664	0.29385284311	0.29004	0.4150058638441848	0.41416	0.130674028925	0.14740	0.598430991173	0.52683	T	0.206016	0.56523	T	-0.044927	0.45215	T	-0.302311	0.44482	T	0.927377164363861	0.59019	D	0.577142	0.20757	T	0.408272	0.61302	0.33283466	0.59128	0.408272	0.61302	0.33283466	0.59127	-3.592	0.19466	T	.	.	0.465	0.64113	A	.;.;.;.	.;.;.;.	4.024048	0.59457	24.1	0.99781117605807468	0.86780	0.90319	0.51400	D	AEFBCI	0.587022	0.58483	D	0.311736897913766	0.56751	3.840304	0.150816183642422	0.47185	2.952561	0.999998519137935	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.67	2.75	0.31439	4.612000	0.60873	7.129000	0.57618	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.386000	0.26469	0.0:0.9002:0.0:0.0998	10.066	0.41476	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2162.06	33	chr11	2403286	.	C	G	2162.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.933;DP=320;ExcessHet=0.4139;FS=5.591;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.55;SOR=0.404	GT:AD:DP:GQ:PL	0/1:52,35:87:99:871,0,1487	4	0	2	0
chr11	2413155	2413155	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon14:c.C2075A:p.P692Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.293869719443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200948792	7.137e-07	5.472e-06	0	1.446e-06	2.754e-05	0	0	.	.	0	0	0	2.754e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.19569	T	0.299	0.20422	T	0.012	0.23277	B	0.002	0.12133	B	0.307514	0.14491	U	0.503112	0.999987	0.18198	N	0	0.06538	N	-0.64	0.72125	T	-0.89	0.24026	N	0.154	0.22998	-0.9782	0.35413	T	0.145	0.46859	T	10	0.06850022	0.09695	T	0.29387	0.90656	D	0.070	0.20419	0.252	0.19067	0.0884992946249	0.08302	0.24893244875185266	0.24807	0.148584724531	0.16762	0.447237581015	0.31567	T	0.09826	0.40191	T	-0.104548	0.35671	T	-0.387953	0.34793	T	0.106949865238358	0.13105	T	0.360864	0.08314	T	0.031854834	0.03102	0.05567839	0.09811	0.031854834	0.03102	0.05567839	0.09811	-8.313	0.63183	D	.	.	0.085	0.15025	B	.;.;.;.	.;.;.;.	1.139981	0.15271	11.72	0.18036308546091193	0.00550	0.09568	0.15295	N	AEFDBI	0.108503	0.21582	N	-1.1046934060112	0.06559	0.3022872	-1.08687870969935	0.07958	0.3892295	0.0614909238699841	0.15232	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.97	1.34	0.21018	0.183000	0.16729	1.205000	0.24865	-0.138000	0.12486	0.009000	0.18154	0.854000	0.27420	0.039000	0.14166	0.6935:0.1963:0.1102:0.0	4.523	0.11372	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	35	chr11	2413155	.	G	T	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.567;DP=206;ExcessHet=0;FS=16.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.245;SOR=0.029	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1345	5	0	1	0
chr11	2414720	2414720	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon11:c.C1739A:p.A580D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.679138568176	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763875217	2.885e-06	1.231e-05	1.421e-06	4.393e-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	0	1.268e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.90584	D	0.975	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.49	0.92661	M	-1.52	0.81478	D	-4.87	0.82830	D	0.917	0.93723	0.562	0.91396	D	0.694	0.89459	D	10	0.9006227	0.89423	D	0.679139	0.97338	D	0.898	0.97135	0.631	0.76699	0.758235402042	0.75604	0.949848316186697	0.94967	0.580066473438	0.53860	0.66815674305	0.62575	T	0.863503	0.96991	D	0.470397	0.93353	D	0.437916	0.93269	D	0.996436476707458	0.89338	D	0.851715	0.54093	D	0.92740107	0.93977	0.94789326	0.98271	0.92740107	0.93977	0.94789326	0.98271	-16.887	0.98813	D	.	.	0.972	0.90222	P	.;.;.;.	.;.;.;.	4.727684	0.76118	26.5	0.99623614881588618	0.75594	0.99268	0.93707	D	AEFBI	0.936482	0.93287	D	0.691019904776548	0.79043	6.995341	0.55936712716563	0.72053	5.749357	0.99995830115098	0.48110	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	8.502000	0.90336	8.321000	0.76963	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	13.391	0.60268	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1078.83	44	chr11	2414720	.	G	T	1078.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.63;DP=233;ExcessHet=0;FS=6.407;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.58;ReadPosRankSum=0.957;SOR=0.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:93:.:.:0,93,1032:.	5	0	1	0
chr11	2415181	2415181	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon9:c.C1419A:p.F473L	.	409	1105	8	0	0	8	0.00360685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0933959245341	0.0006	0.000998403	0.0019	0	0.0007	0	0.0025	0.0029	0	0.0013	0.0007115	110	154602	rs201638929	0.0006	0.0006	0.0006	0.0006	0.0014	0.0006	0.0006	0.0009	0.0008	6.077e-05	0.0002	0.0120	0	0.0006	0.0014	0.0003	0.0010	0.0011	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0003	0.0002	7.217e-05	0	0.0002	0.0121	0	0.0007	0	0.0004	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.013	0.17295	B	0.000000	0.84330	D	0.000000	0.995102	0.42546	D	0.69	0.16971	N	0.13	0.60973	T	0.6	0.02518	N	0.55	0.57604	-1.0278	0.21168	T	0.075	0.30117	T	10	0.009403288	0.00212	T	0.093396	0.76066	D	0.260	0.57221	0.394	0.41935	0.0551355673512	0.04727	0.45379199618112687	0.45297	0.357763952978	0.37491	0.926101922989	0.98752	D	0.118111	0.43868	T	-0.323625	0.06605	T	-0.295416	0.45207	T	0.027641850480558	0.01636	T	0.783522	0.42019	T	0.15281197	0.34670	0.1548644	0.36328	0.15281197	0.34669	0.1548644	0.36327	-7.611	0.58387	D	.	.	0.813	0.77883	P	.;.;.;.	.;.;.;.	1.937284	0.24609	16.46	0.97010533188149317	0.31981	0.91660	0.53993	D	AEFDBI	0.600262	0.59296	D	-0.582383874635545	0.19479	1.019851	-0.431075272461032	0.24090	1.317294	0.0166256165440514	0.12853	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.21	3.21	0.35933	1.762000	0.38080	1.709000	0.28183	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1395:0.2412:0.6193:0.0	4.332	0.10507	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001015	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.000000	0.08333	448.83	44	chr11	2415181	.	G	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.681;DP=232;ExcessHet=0;FS=1.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.532;SOR=0.472	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1056	5	0	1	0
chr11	2588839	2588839	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon10:c.G1378A:p.G460S,KCNQ1:NM_181798:exon10:c.G997A:p.G333S	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	2	1517	3	0	0	3	0.000987817	.	.	.	77927	Cardiac_arrhythmia|not_provided|Long_QT_syndrome|Cardiovascular_phenotype|SUDDEN_INFANT_DEATH_SYNDROME	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.575	0.432087648641	7.7e-05	0.000199681	6.007e-05	0.0002	8.892e-05	0	0.0002	4.679e-05	0	0	5.17e-05	8	154602	rs199472783	3.151e-05	3.147e-05	2.726e-05	3.58e-05	0.0008	2.415e-05	2.16e-05	0.0003	0.0002	0.0004	8.951e-05	0	0	0	0.0008	9.893e-06	0.0002	1.161e-05	3.946e-05	3.939e-05	2.573e-05	5.382e-05	7.234e-05	1.717e-05	1.13e-05	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	4.412e-05	0	0	0.132	0.26519	T	0.244	0.28482	T	0.046	0.21875	B	0.007	0.12992	B	0.604964	0.05668	N	1.219870	1	0.08975	N	0.83	0.20963	L	-6.45	0.99697	D	-0.92	0.24676	N	0.674	0.68169	1.170	0.99957	D	0.909	0.96992	D	10	0.18666735	0.34142	T	0.432088	0.94001	D	0.575	0.82799	.	.	0.78078691102	0.77876	0.2682622852155854	0.26739	0.380274087306	0.39395	0.288948744535	0.08769	T	0.405366	0.76156	T	0.145455	0.68842	D	0.168131	0.81298	D	0.0155915124341846	0.00356	T	0.653935	0.26417	T	0.06535181	0.13958	0.052771866	0.08761	0.082167745	0.18915	0.061692037	0.11954	-5.799	0.44566	T	0.10052772737270556	0.07426	0.062	0.02342	B	.;.;.	.;.;.	0.463216	0.08328	5.079	0.76963536863074866	0.11680	0.01809	0.05637	N	AEFDBI	0.081750	0.16546	N	-1.32566014022103	0.03384	0.15108	-1.33139375714821	0.04030	0.1892418	1.0010640910923E-4	0.04910	0.676563	0.55306	0	0.573888	0.26702	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.28	-0.779	0.10419	-0.162000	0.10000	-1.419000	0.05484	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.142000	0.20019	0.4085:0.0:0.4133:0.1782	3.319	0.06629	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2002.83	184	chr11	2588839	.	G	A	2002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=367;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.502;SOR=0.786	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	5	0	1	0
chr11	2922183	2922183	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon7:c.A652G:p.I218V,SLC22A18:NM_001315501:exon9:c.A1201G:p.I401V,SLC22A18:NM_002555:exon9:c.A946G:p.I316V,SLC22A18:NM_183233:exon9:c.A946G:p.I316V	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00737868928907	.	0.000399361	0.0003	0	8.649e-05	0	0	4.528e-05	0	0.0022	0.0002781	43	154602	rs545010654	0.0001	0.0001	5.72e-05	0.0002	0.0016	9.674e-05	9.153e-05	0.0014	0.0013	0	0	7.654e-05	2.519e-05	0	0.0012	2.698e-06	0.0001	0.0016	5.913e-05	5.906e-05	5.141e-05	6.719e-05	0.0017	3.077e-05	2.21e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0	0	0	0.0017	1.0	0.19430	T	0.196	0.27943	T	0.021	0.21573	B	0.014	0.23361	B	0.086695	0.02411	N	1.983950	1	0.08975	N	0.665	0.16292	N	0.25	0.59449	T	0.23	0.04613	N	0.048	0.02861	-1.0215	0.23227	T	0.128	0.43605	T	10	0.0058738887	0.00131	T	0.007379	0.19576	T	0.046	0.12618	0.534	0.64293	0.330069100803	0.32608	0.13522968556899972	0.13446	0.140831543526	0.15890	0.285464346409	0.08265	T	0.023315	0.17820	T	-0.615686	0.00117	T	-0.66443	0.07971	T	0.00861825476631836	0.00105	T	0.613939	0.24053	T	0.04369305	0.06855	0.023412595	0.00355	0.04369305	0.06854	0.023412595	0.00355	-3.309	0.13853	T	.	.	0.073	0.04558	B	.;.;.;.;.	.;.;.;.;.	-0.937597	0.00865	0.031	0.22042887522865393	0.00868	0.00611	0.02712	N	AEFDBI	0.080293	0.16232	N	-1.43650535549894	0.02325	0.1025267	-1.55463046181991	0.01944	0.08874412	0.996464569381863	0.34764	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	-7.11	0.01389	-0.919000	0.04125	-2.014000	0.04344	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.2076:0.0:0.5366:0.2558	7.303	0.25603	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	479.83	47	chr11	2922183	.	A	G	479.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.244;DP=220;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.4;SOR=0.99	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	5	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.1667	3015.06	40	chr11	3038130	.	C	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.08;DP=402;ExcessHet=0.4139;FS=7.945;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.279;SOR=1.146	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1270,0,1526	4	0	2	0
chr11	3669344	3669344	G	A	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_020402:exon3:c.C214T:p.R72W	.	421	1100	1	0	0	1	0.000454339	.	.	.	2356369	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.250809389265	7.7e-05	.	0.0002	0	8.658e-05	0.0001	0	0.0003	0	0.0001	0.0001746	27	154602	rs200272875	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	6.411e-05	5.911e-05	2.989e-05	0.0001	0.0045	0	3.745e-05	0.0003	7.736e-05	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	9.003e-05	0	0	0.0001	0.0049	0	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000071	0.52346	D	0.000000	0.999281	0.81001	D	3.575	0.93507	H	-1.3	0.79571	T	-6.73	0.92605	D	0.883	0.88137	0.681	0.92934	D	0.740	0.91105	D	10	0.3449691	0.51480	T	0.250809	0.89106	D	0.806	0.93699	.	.	0.939134122139	0.93850	0.6302270130243415	0.62956	0.608453772384	0.55612	0.81268286705	0.83903	D	0.682699	0.90699	D	0.271225	0.80548	D	0.400128	0.92114	D	0.344743636754267	0.26811	T	0.980802	0.93421	D	0.7776993	0.82512	0.78776217	0.87507	0.7776993	0.82514	0.78776217	0.87508	-10.5	0.76847	D	.	.	0.699	0.72918	P	.	.	5.019356	0.83409	28.0	0.99870006878076589	0.94815	0.97315	0.73978	D	AEFDGBI	0.458235	0.50935	N	0.500016668733299	0.67093	5.035711	0.410557811763356	0.62220	4.434034	0.99988561968933	0.44867	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	5.54	4.62	0.56946	1.807000	0.38540	4.438000	0.43375	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.895000	0.43227	0.0:0.0:0.8426:0.1574	13.513	0.60978	835	0.38313	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1129.83	35	chr11	3669344	.	G	A	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=265;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.727;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1253	5	0	1	0
chr11	3683236	3683236	G	A	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon29:c.C4741T:p.R1581C,NUP98:NM_139132:exon29:c.C4660T:p.R1554C,NUP98:NM_001365126:exon30:c.C4933T:p.R1645C,NUP98:NM_001365127:exon30:c.C4858T:p.R1620C,NUP98:NM_001365128:exon30:c.C4831T:p.R1611C,NUP98:NM_016320:exon30:c.C4882T:p.R1628C,NUP98:NM_001365125:exon31:c.C4975T:p.R1659C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00403312838018	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372994507	1.026e-05	1.026e-05	1.089e-05	9.625e-06	5.974e-05	6.16e-06	4.89e-06	9.89e-06	4.55e-06	5.974e-05	0	0	0	0	0	1.079e-05	1.656e-05	0	1.315e-05	1.97e-05	1.285e-05	1.346e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.008	0.67890	D	0.005	0.25382	B	0.002	0.16460	B	0.282609	0.14917	N	0.669254	0.732682	0.30163	N	1.355	0.33814	L	.	.	.	-3.01	0.62518	D	0.193	0.24634	-0.9780	0.35458	T	0.086	0.33298	T	9	0.22408038	0.39203	T	0.004033	0.09587	T	0.141	0.37795	.	.	0.174091166621	0.17034	0.17469496401256876	0.17388	0.25891999186	0.28446	0.218123584986	0.01204	T	0.466137	0.80100	T	-0.0150209	0.49560	T	-0.259353	0.48888	T	0.884000062942505	0.53420	D	0.932107	0.74741	D	0.047266774	0.08051	0.065368585	0.13239	0.047266774	0.08051	0.065368585	0.13239	-7.967	0.60845	D	.	.	0.088	0.27880	B	.;.;.	.;.;.	3.871645	0.56212	23.7	0.99542598131906868	0.70586	0.97579	0.75677	D	AEFGBHI	0.541375	0.55755	D	-0.0999656868558597	0.37395	2.174935	0.0817673104621178	0.43632	2.660975	0.99267165669529	0.32927	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.14	4.21	0.48984	4.669000	0.61269	6.362000	0.55510	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0763:0.1319:0.6554:0.1364	6.225	0.19915	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	774.83	33	chr11	3683236	.	G	A	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=2.16;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	5	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	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	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.08333	2633.83	122	chr11	4653052	.	A	G	2633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.04;DP=675;ExcessHet=0;FS=1.628;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.256;SOR=0.809	GT:AD:DP:GQ:PL	0/1:120,101:221:99:2644,0,2909	5	0	1	0
chr11	4821609	4821609	A	G	exonic	OR51F2	.	nonsynonymous SNV	OR51F2:NM_001004753:exon1:c.A188G:p.Y63C	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00422678405543	0.0012	0.00159744	0.0026	0.0006	0.0036	0	0	0.0023	0.0022	0.0070	0.0025291	391	154602	rs185898822	0.0023	0.0023	0.0020	0.0025	0.0229	0.0022	0.0022	0.0197	0.0185	0.0005	0.0041	0.0040	2.519e-05	0	0.0229	0.0018	0.0029	0.0076	0.0021	0.0021	0.0020	0.0023	0.0071	0.0020	0.0019	0.0052	0.0046	0.0005	0	0.0059	0.0035	0	0	0.0442	0.0021	0.0057	0.0071	.	.	.	.	.	.	0.013	0.16609	B	0.027	0.21085	B	0.224365	0.16063	U	0.455201	1	0.81001	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0827	0.06833	T	0.021	0.09056	T	10	0.006897241	0.00157	T	0.004227	0.10216	T	0.129	0.35316	.	.	0.0297737177859	0.01360	0.27260243329221395	0.27173	0.00684574193027	0.00603	0.249014645815	0.03664	T	0.023906	0.18164	T	-0.529186	0.00388	T	-0.528491	0.19437	T	0.015908283942903	0.00376	T	0.668933	0.27772	T	0.5682851	0.70966	0.47584587	0.69627	0.5682851	0.70967	0.47584587	0.69627	-6.638	0.51342	T	.	.	0.096	0.15520	B	.;.	.;.	2.411576	0.30999	18.61	0.80908312501379798	0.13426	0.29076	0.23726	N	AEFBI	0.303737	0.41163	N	-0.795963792636158	0.13415	0.6606802	-0.803844750957531	0.14403	0.7523467	8.1743021512517E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.43	3.29	0.36801	1.013000	0.29540	.	.	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.493000	0.28859	0.7804:0.0:0.0831:0.1365	6.761	0.22727	799	0.44747	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.039402	0.023392	0.000000	0.043103	0.003049	0.003788	0.08333	2861.83	173	chr11	4821609	.	A	G	2861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.832;DP=345;ExcessHet=0;FS=5.643;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.598;SOR=0.389	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	5	0	1	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	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	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.08333	1119.83	35	chr11	4923931	.	C	T	1119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.698;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1429	5	0	1	0
chr11	4955551	4955551	G	C	exonic	OR51A2	.	nonsynonymous SNV	OR51A2:NM_001004748:exon1:c.C163G:p.P55A	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00246608577841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.242e-07	1.381e-06	0	1.639e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.072	0.43344	T	0.02	0.18235	B	0.029	0.21540	B	.	.	.	.	0.999999	0.08975	N	2.08	0.57402	M	6.89	0.00474	T	-3.13	0.63901	D	0.06	0.03175	-1.0016	0.29459	T	0.001	0.00438	T	9	0.062737465	0.08068	T	0.002466	0.04868	T	0.012	0.01476	0.339	0.32979	0.273495378476	0.26946	0.08244105522149014	0.08179	1.110984217	0.78055	.	.	.	0.007809	0.07192	T	-0.347254	0.04901	T	-0.736583	0.04036	T	0.0794778487989844	0.09920	T	0.205679	0.02432	T	0.04267267	0.06513	0.081782036	0.18613	0.04267267	0.06513	0.081782036	0.18613	-6.108	0.47174	T	.	.	0.082	0.08609	B	.	.	-0.886793	0.00948	0.037	0.50262462885984094	0.04353	0.02234	0.06487	N	AEFGI	0.049583	0.08580	N	-1.58678191300739	0.01332	0.05801692	-1.75608373578911	0.00911	0.04073219	0.00443871364354785	0.10556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.94	-5.89	0.02093	-2.204000	0.01317	.	.	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.1029:0.6181:0.1571	6.185	0.19708	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1361.83	115	chr11	4955551	.	G	C	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=586;ExcessHet=0;FS=3.127;MLEAC=1;MLEAF=0.083;MQ=48.87;MQRankSum=-0.107;QD=9.66;ReadPosRankSum=1.27;SOR=0.665	GT:AD:DP:GQ:PL	0/0:145,0:145:99:0,120,1800	5	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1371.83	61	chr11	5070094	.	C	T	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.706;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.365;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr11	5178588	5178588	C	0	exonic	OR52Z1	.	.	.	.	442	140	439	496	5	1436	0.836353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	555.01	40	chr11	5178588	.	C	*	555.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.439;DP=240;ExcessHet=2.3007;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=-1.301;SOR=0.425	GT:AD:DP:GQ:PL	0/1:20,18:38:99:560,0,634	2	1	3	0
chr11	5226576	5226576	C	T	splicing	HBB	NM_000518:exon2:c.315+1G>A	.	.	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	1	1514	7	0	0	7	0.00230643	1.0000	0.948	YES	30477	Beta-thalassemia_HBB/LCRB|Erythrocytosis,_familial,_6|METHEMOGLOBINEMIA,_BETA_TYPE|Hb_SS_disease|Heinz_body_anemia|Hereditary_persistence_of_fetal_hemoglobin|Malaria,_susceptibility_to|Dominant_beta-thalassemia|not_specified|Beta_zero_thalassemia|not_provided|beta_Thalassemia	MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985|MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980|MedGen:C1840779,OMIM:617971|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848|MedGen:CN169374|MedGen:C0271980|MedGen:C3661900|MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.125e-05	0.0002	0	0	0	3.003e-05	0	6.057e-05	3.23e-05	5	154602	rs33945777	3.08e-05	3.078e-05	2.451e-05	3.714e-05	0.0010	2.348e-05	2.096e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0010	1.35e-05	0.0002	0.0001	4.601e-05	4.597e-05	5.138e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	7.893e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9103708	0.90401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409586	0.90459	D	0.63	0.97656	D	.	.	.	0.230677	0.03117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73458	P	.	.	5.304481	0.89052	29.8	0.99344039951916285	0.60291	0.96075	0.67419	D	AEFGBHCI	.	.	.	1.02008625056633	0.96331	14.56554	0.822344664021486	0.91300	10.81854	0.999999700040334	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.977528	0.81219	4.69	4.69	0.58546	5.658000	0.67673	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.517000	0.29406	0.0:1.0:0.0:0.0	15.933	0.79471	862	0.33134	Globin|Globin	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	92	chr11	5226576	.	C	T	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=654;ExcessHet=0;FS=2.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.074;SOR=1.15	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	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	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	1347.83	40	chr11	5342819	.	G	C	1347.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.046;DP=288;ExcessHet=0;FS=0.731;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.674;SOR=0.594	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1264	5	0	1	0
chr11	5351894	5351894	A	C	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.A387C:p.R129S	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	.	0.0034	0.00419329	0.0018	0.0102	0.0018	0	0	0.0012	0.0033	0	0.0017464	270	154602	rs117284118	0.0011	0.0011	0.0011	0.0010	0.0091	0.0010	0.0010	0.0083	0.0080	0.0091	0.0028	0.0099	0	0	0.0071	0.0006	0.0027	3.479e-05	0.0036	0.0036	0.0036	0.0036	0.0092	0.0034	0.0033	0.0084	0.0081	0.0092	0	0.0060	0.0063	0	0	0.0102	0.0005	0.0047	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.165	0.28508	B	0.066	0.27432	B	0.001666	0.38326	N	0.108147	1	0.81001	D	3.175	0.88760	M	1.04	0.40218	T	-5.04	0.82638	D	0.692	0.69737	-0.7883	0.55828	T	0.087	0.33830	T	10	0.014189333	0.00299	T	.	.	.	0.244	0.55061	0.726	0.86024	0.59408574423	0.59086	0.12420604133629382	0.12346	0.00372882055333	0.00321	0.263294786215	0.05288	T	0.010923	0.09812	T	-0.315055	0.07310	T	-0.217369	0.52990	T	0.0883910156512836	0.11025	T	0.821518	0.48098	T	0.8130372	0.84755	0.64090115	0.79019	0.8130372	0.84756	0.64090115	0.79020	-7.751	0.59361	D	.	.	0.253	0.48807	B	.	.	2.052048	0.26091	16.99	0.9859649441228443	0.43440	0.23826	0.22200	N	AEFBI	0.430522	0.49319	N	-0.295459649641254	0.29323	1.625096	-0.327549446507444	0.27212	1.508418	0.0622267546413846	0.15257	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	3.89	0.44098	-1.547000	0.02290	.	.	0.752000	0.88150	0.000000	0.06391	0.000000	0.08366	0.925000	0.46118	0.8146:0.0:0.1854:0.0	7.294	0.25559	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.015152	0.006793	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	1880.83	152	chr11	5351894	.	A	C	1880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.115;DP=687;ExcessHet=0;FS=1.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-2.48;SOR=0.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:116,0:116:99:.:.:0,120,1800:.	5	0	1	0
chr11	5422907	5422907	G	A	exonic	OR51Q1	.	nonsynonymous SNV	OR51Q1:NM_001004757:exon1:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	3370764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0016574770183	0.0002	.	0.0003	0	8.639e-05	0	0.0015	0.0004	0	0	0.0003687	57	154602	rs141547549	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0001	0	0.0002	0.0012	0.0009	0.0003	0.0002	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	7.222e-05	0	0.0003	0	0.0002	0.0016	0	0.0003	0	0	0.089	0.32141	T	0.191	0.28391	T	1.0	0.90584	D	0.999	0.92359	D	0.019593	0.27223	N	0.244803	0.999981	0.18198	N	1.85	0.49092	L	8.15	0.00286	T	-3.5	0.68178	D	0.157	0.16308	-0.8853	0.49332	T	0.002	0.00526	T	10	0.025961041	0.00775	T	0.001657	0.02728	T	0.132	0.35948	.	.	0.243398259712	0.23965	0.1627407421260048	0.16194	0.0116065001452	0.01090	0.243144780397	0.03081	T	0.011876	0.10530	T	-0.39751	0.02404	T	-0.480811	0.24361	T	0.109037866715275	0.13324	T	0.90161	0.65783	D	0.20688199	0.42877	0.15204774	0.35789	0.20688199	0.42877	0.15204774	0.35789	-4.414	0.29746	T	.	.	0.082	0.08851	B	.	.	2.137012	0.27209	17.38	0.9984443720308056	0.92489	0.21507	0.21426	N	AEFDGBHCI	0.104983	0.20989	N	-0.0626458537621814	0.39039	2.295909	-0.266194586486341	0.29220	1.635317	0.782755017465769	0.23874	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	1.839000	0.38861	.	.	0.385000	0.20450	0.013000	0.18845	0.000000	0.08366	0.017000	0.10941	0.1627:0.0:0.8373:0.0	10.251	0.42548	667	0.61242	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1951.83	94	chr11	5422907	.	G	A	1951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.53;DP=669;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.29;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1401	5	0	1	0
chr11	5454179	5454179	C	T	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.C691T:p.R231C	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0075	0.00958466	0.0034	0.0223	0.0041	0	0	0.0019	0.0022	6.057e-05	0.0034088	527	154602	rs141274915	0.0020	0.0020	0.0020	0.0019	0.0201	0.0019	0.0019	0.0188	0.0183	0.0201	0.0053	0.0192	2.519e-05	1.872e-05	0.0116	0.0010	0.0046	0.0002	0.0081	0.0080	0.0080	0.0083	0.0211	0.0078	0.0076	0.0200	0.0195	0.0211	0	0.0123	0.0150	0	0	0.0240	0.0012	0.0097	0.0002	0.075	0.34444	T	0.106	0.37872	T	0.99	0.63424	D	0.659	0.52771	P	0.371354	0.13522	N	0.700913	1	0.08975	N	2.95	0.84923	M	8.68	0.00126	T	-3.6	0.69357	D	0.286	0.32370	-0.9564	0.39843	T	0.001	0.00188	T	10	0.0040298104	0.00078	T	.	.	.	0.053	0.14996	.	.	0.393006254552	0.38910	0.21156843737290196	0.21072	0.037006608582	0.03923	0.187465801835	0.00183	T	0.02065	0.16221	T	-0.624548	0.00103	T	-0.652977	0.08747	T	0.0440606739665563	0.04432	T	0.256474	0.04006	T	0.22042967	0.44598	0.25360674	0.51011	0.22042967	0.44598	0.25360674	0.51010	-7.5	0.57610	T	.	.	0.148	0.32804	B	.;.	.;.	3.747737	0.53700	23.4	0.99516631425288149	0.68979	0.10248	0.15807	N	AEFBHCI	0.087924	0.17826	N	-0.217801503256806	0.32403	1.827056	-0.424482124420231	0.24281	1.328776	0.969964654167469	0.29170	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	3.72	0.41857	-0.286000	0.08433	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.891000	0.42908	0.1442:0.6422:0.1391:0.0746	5.656	0.16918	696	0.58299	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	0.013595	0.055556	0.017663	0.011696	0.000000	0.000000	0.003049	0.000000	0.08333	3017.83	233	chr11	5454179	.	C	T	3017.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.46;DP=594;ExcessHet=0;FS=4.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.817;SOR=0.98	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	5	0	1	0
chr11	5489613	5489613	A	G	exonic	OR52D1	.	nonsynonymous SNV	OR52D1:NM_001005163:exon1:c.A907G:p.I303V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0129441342365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.996	0.68779	D	0.99	0.78936	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.015	0.55033	M	1.25	0.36512	T	-0.89	0.24026	N	0.177	0.19055	-0.6746	0.61620	T	0.198	0.55357	T	10	0.37442216	0.53722	T	0.012944	0.31944	T	0.313	0.63482	0.613	0.74652	0.165133752707	0.16062	0.1039914159082935	0.10329	0.0171766405274	0.01662	0.35869115591	0.19194	T	0.002097	0.01499	T	-0.0970486	0.36914	T	-0.37718	0.36051	T	0.861193895339966	0.51160	D	0.809419	0.45992	T	0.3607741	0.57895	0.28939247	0.54959	0.3607741	0.57895	0.28939247	0.54959	-5.55	0.42333	T	.	.	0.333	0.55459	B	.	.	4.292425	0.65474	24.8	0.99837353505834381	0.91800	0.96036	0.67243	D	AEFGBHCI	0.748150	0.68999	D	0.552486894109694	0.70235	5.471662	0.48243959389732	0.66829	5.003019	0.999999999945584	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	3.623000	0.53964	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.617000	0.31819	1.0:0.0:0.0:0.0	14.723	0.68932	695	0.58372	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1022.83	45	chr11	5489613	.	A	G	1022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.52;SOR=0.59	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,111,1665	5	0	1	0
chr11	5788425	5788425	G	C	exonic	OR52N1	.	nonsynonymous SNV	OR52N1:NM_001001913:exon1:c.C392G:p.P131R	.	432	1089	1	0	0	1	0.000458926	.	.	.	2386668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.546	0.0260863825914	7.7e-05	.	0.0002	0	8.676e-05	0	0	0.0001	0	0.0007	0.0001294	20	154602	rs199876263	0.0001	0.0001	7.759e-05	0.0001	0.0009	9.199e-05	8.665e-05	0.0005	0.0005	0	4.474e-05	0	0	0	0.0009	7.105e-05	0.0002	0.0007	5.254e-05	5.25e-05	5.14e-05	5.373e-05	0.0002	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0068	7.35e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000142	0.49130	D	0.000000	1	0.81001	D	4.575	0.99193	H	4.57	0.01917	T	-8.77	0.97742	D	0.881	0.87917	-0.8227	0.53765	T	0.064	0.26456	T	10	0.9109186	0.90456	D	0.026086	0.49023	D	0.546	0.81135	.	.	0.677296958874	0.67455	0.5636707496590361	0.56294	0.269562591483	0.29473	0.274538606405	0.06741	T	0.030761	0.21729	T	-0.00438811	0.51047	T	0.0921796	0.76391	D	0.984724164009094	0.75940	D	0.980102	0.93255	D	0.9155966	0.92822	0.87283975	0.93062	0.9155966	0.92823	0.87283975	0.93063	-9.869	0.73124	D	.	.	0.246	0.48071	B	.;.	.;.	2.799841	0.36826	20.3	0.99811842555484942	0.89531	0.99076	0.90873	D	AEFGI	0.869501	0.79007	D	0.971777164109701	0.94808	13.05804	0.813539026383987	0.90720	10.53668	0.999985157960102	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	7.554000	0.81159	.	.	-0.138000	0.12486	1.000000	0.71638	0.997000	0.33255	0.001000	0.02609	0.0:0.0:1.0:0.0	16.492	0.84048	730	0.54327	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1766.83	177	chr11	5788425	.	G	C	1766.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.566;DP=900;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-1.281;SOR=0.699	GT:AD:DP:GQ:PL	0/0:167,0:167:99:0,120,1800	5	0	1	0
chr11	5967729	5967729	T	C	exonic	OR56A5	.	nonsynonymous SNV	OR56A5:NM_001146033:exon1:c.A766G:p.T256A	.	413	1108	1	0	0	1	0.00045106	.	.	.	2253515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	.	4.361e-05	0.0002	0.0001	0	0	0	0	7.798e-05	2.59e-05	4	154602	rs368896033	1.028e-05	1.094e-05	1.226e-05	8.269e-06	0.0003	6.17e-06	4.89e-06	6.092e-05	2.68e-05	8.963e-05	4.51e-05	0	0	0	0.0003	0	1.657e-05	8.186e-05	1.972e-05	1.97e-05	0	4.035e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.59159	D	0.999	0.77913	D	0.999	0.92359	D	.	.	.	.	.	.	.	3.235	0.89610	M	.	.	.	.	.	.	0.45	0.48780	.	.	.	.	.	.	.	0.15151832	0.28638	T	.	.	.	.	.	.	.	0.210429274316	0.20668	0.07662345417039666	0.07598	.	.	0.279564976692	0.07432	T	0.025627	0.19125	T	-0.0994128	0.36522	T	-0.101141	0.63310	T	.	.	.	0.786121	0.42437	T	0.16428043	0.36625	0.3295395	0.58832	0.16428043	0.36624	0.3295395	0.58831	-5.206	0.39003	T	.	.	0.116	0.23219	B	.;.	.;.	3.273988	0.44829	22.0	0.75444975216065913	0.11078	0.08191	0.14151	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.01522223491136E-4	0.07176	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0747121	0.17392	4.86	3.65	0.40985	0.458000	0.21603	.	.	0.609000	0.47794	0.003000	0.16062	0.000000	0.08366	0.193000	0.21690	0.2582:0.0:0.1608:0.5809	4.846	0.12878	724	0.55085	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	988.83	44	chr11	5967729	.	T	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.567;DP=264;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.61;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	5	0	1	0
chr11	6390701	6390724	CTGGTGCTGGCGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001007593:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001318087:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001365135:exon1:c.103_126del:p.V36_L43del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	462081	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0022	0.0005	0.0016	0.0005	0.0004	0.0015	0	0.0080	0.0004226	11	26028	rs550067660	0.0013	0.0013	0.0011	0.0015	0.0071	0.0012	0.0012	0.0066	0.0065	0.0005	0.0014	0.0038	0.0004	0	0.0039	0.0008	0.0019	0.0071	0.0010	0.0009	0.0009	0.0010	0.0074	0.0008	0.0008	0.0053	0.0046	0.0002	0	0.0009	0.0039	0.0004	0	0.0078	0.0011	0.0005	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	759.79	43	chr11	6390700	.	CCTGGTGCTGGCGCTGGCGCTGGCG	C	759.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.406;DP=239;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=1.64;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1665:.	5	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8976.07	74	chr11	6390705	.	TGCTGGC	*	8976.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=333;ExcessHet=0;FS=3.631;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.64;ReadPosRankSum=-1.218;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:39:99:.:.:1358,1406,1572:.	5	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C	.	434	1071	15	2	0	19	0.00879223	.	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Likely benign	0	0	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	0.003529	0.005319	0.006667	0.000000	0.000000	0.000000	0.000000	0.011905	0.08333	436.83	27	chr11	6547636	.	C	T	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=182;ExcessHet=0;FS=5.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.396;SOR=0.595	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	5	0	1	0
chr11	6630130	6630130	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon10:c.C4664A:p.P1555Q	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0057983207862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.185	0.28958	T	0.021	0.18474	B	0.026	0.20792	B	0.000393	0.44960	D	0.000000	0.535504	0.32010	D	1.81	0.47622	L	4.67	0.01735	T	-1.3	0.32590	N	0.269	0.30461	-1.1317	0.01703	T	0.010	0.03856	T	10	0.11152524	0.20886	T	0.005798	0.15072	T	0.102	0.29158	0.457	0.52265	0.295226631146	0.29124	0.6586779977676052	0.65804	0.768272729556	0.64638	0.502455472946	0.39170	T	0.132169	0.46209	T	-0.224116	0.17434	T	-0.559704	0.16404	T	0.691428303718567	0.40314	D	0.751525	0.37371	T	0.04905398	0.08650	0.06823634	0.14223	0.04905398	0.08649	0.06823634	0.14223	-5.635	0.43111	T	.	.	0.131	0.28145	B	.	.	4.118113	0.61526	24.3	0.9881281280720281	0.46655	0.43753	0.27168	N	AEFDGBCI	0.162262	0.28842	N	-0.247320425823186	0.31210	1.747782	-0.18580808398558	0.32056	1.820101	0.999999977142135	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.64067	0.45733	0	0.714379	0.83352	0	.	.	4.92	4.0	0.45673	1.730000	0.37748	8.446000	0.77207	0.652000	0.53365	0.279000	0.25131	1.000000	0.68203	0.983000	0.59808	0.0787:0.1416:0.7797:0.0	9.87	0.40337	238	0.90711	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	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	534.83	33	chr11	6630130	.	G	T	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.906;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.143;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	5	0	1	0
chr11	6768261	6768261	C	T	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.G697A:p.G233R	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00144634529571	0.0016	0.00159744	0.0016	0.0010	0.0014	0	0	0.0023	0.0033	0.0005	0.0016041	248	154602	rs143018775	0.0022	0.0022	0.0022	0.0022	0.0081	0.0021	0.0021	0.0063	0.0056	0.0004	0.0017	0.0015	0	0.0001	0.0081	0.0025	0.0026	0.0005	0.0019	0.0019	0.0020	0.0018	0.0057	0.0017	0.0017	0.0047	0.0044	0.0005	0	0.0057	0.0023	0	0	0.0204	0.0023	0.0043	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000084	0.51296	D	0.000000	1	0.08975	N	2.66	0.77858	M	8.25	0.00271	T	-7.04	0.93833	D	0.307	0.34659	-1.0040	0.28755	T	0.002	0.00526	T	10	0.010412455	0.00232	T	0.001446	0.02164	T	0.068	0.19811	0.584	0.71118	0.45553875121	0.45177	0.2119157015489632	0.21107	0.05690108089	0.06292	0.215650826693	0.01074	T	0.008477	0.07783	T	-0.530015	0.00384	T	-0.539964	0.18300	T	0.0602325163226866	0.07206	T	0.891311	0.62583	D	0.87381077	0.89166	0.76935583	0.86381	0.87381077	0.89167	0.76935583	0.86382	-9.395	0.70204	D	.	.	0.362	0.60630	A	.;.;.	.;.;.	3.953177	0.57923	23.9	0.9985118727065555	0.93013	0.08069	0.14042	N	AEFGBI	0.070082	0.13899	N	0.150399072860873	0.48831	3.090569	-0.0673493762495646	0.36749	2.142636	2.88814230646248E-4	0.06355	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.47	3.55	0.39770	-0.022000	0.12424	0.424000	0.18252	0.596000	0.33519	0.000000	0.06391	0.029000	0.21193	0.003000	0.05239	0.0:0.9061:0.0:0.0939	10.793	0.45648	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6697.06	44	chr11	6768261	.	C	T	6697.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.411;DP=605;ExcessHet=0.4139;FS=3.203;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.342;SOR=0.502	GT:AD:DP:GQ:PL	0/1:104,122:226:99:3268,0,2809	4	0	2	0
chr11	7000105	7000105	A	T	exonic	ZNF214	.	stopgain	ZNF214:NM_001354832:exon3:c.T1578A:p.Y526X,ZNF214:NM_001354833:exon3:c.T1536A:p.Y512X,ZNF214:NM_013249:exon3:c.T1578A:p.Y526X,ZNF214:NM_001354830:exon4:c.T1611A:p.Y537X,ZNF214:NM_001354831:exon4:c.T1578A:p.Y526X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001759	0.38106	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.103150	0.96145	35	0.99607597970600614	0.74575	0.62495	0.31799	D	AEFBI	0.347279	0.44180	N	0.314165565931068	0.56874	3.85301	0.0829448796572253	0.43690	2.665672	0.750625308082461	0.23354	0.638212	0.43195	0	0.486142	0.07564	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	4.05	1.74	0.23636	0.257000	0.18137	1.566000	0.27387	0.751000	0.87719	0.000000	0.06391	0.996000	0.32793	0.988000	0.63387	0.7947:0.0:0.2053:0.0	6.794	0.22901	809	0.43032	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	887.83	35	chr11	7000105	.	A	T	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.26;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.785;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,38:101:99:898,0,1686	5	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.08333	641.83	33	chr11	7648505	.	T	A	641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.723;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.456;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	5	0	1	0
chr11	7928005	7928005	G	A	exonic	OR10A6	.	stopgain	OR10A6:NM_001004461:exon1:c.C658T:p.R220X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs267603211	4.994e-05	4.994e-05	5.718e-05	4.263e-05	8.964e-05	4.059e-05	3.734e-05	4.265e-05	3.837e-05	8.964e-05	2.24e-05	0	0	0	0	5.396e-05	0.0001	1.159e-05	3.945e-05	4.597e-05	3.856e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.891e-05	5.395e-05	0	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.287139	0.14836	N	0.503989	0.999978	0.53665	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261863	0.79701	D	0.202017	0.83240	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.081407	0.97159	37	0.91818852933635653	0.21127	0.02338	0.06684	N	AEFGBI	0.047871	0.08110	N	-0.220879592952697	0.32278	1.818621	-0.5762032245944	0.20113	1.082241	3.36458786771513E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.33	0.15169	-0.213000	0.09309	-1.581000	0.05125	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2689:0.0:0.3631:0.368	2.687	0.04793	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	75	chr11	7928005	.	G	A	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.311;DP=391;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.65;SOR=0.963	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	5	0	1	0
chr11	7938716	7938716	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G805A:p.E269K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0038765257092	0.0005	.	0.0003	0	0	0	0	0.0005	0	6.056e-05	0.0002264	35	154602	rs142623287	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0	0	0	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	4.83e-05	0	6.545e-05	0	0	0	0	0.0004	0.0005	0	0.242	0.17584	T	0.457	0.12704	T	0.958	0.54977	D	0.419	0.45047	B	0.017456	0.27721	U	0.162995	0.999448	0.21182	N	1.2	0.30300	L	8.73	0.00091	T	-2.05	0.47008	N	0.206	0.22870	-0.7392	0.58493	T	0.000	0.00152	T	10	0.06826961	0.09631	T	0.003877	0.09117	T	0.076	0.22200	.	.	0.531245695338	0.52774	0.10761347339283284	0.10690	0.030149542159	0.03112	0.24258056283	0.03028	T	0.009584	0.08721	T	-0.453981	0.01070	T	-0.555738	0.16779	T	0.154635116457939	0.17466	T	.	.	.	0.17411381	0.38197	0.1620334	0.37659	0.17411381	0.38197	0.1620334	0.37658	-5.333	0.40268	T	.	.	0.123	0.25721	B	.;.	.;.	3.736124	0.53476	23.4	0.99783850695842202	0.87043	0.26584	0.23035	N	AEFBI	0.080422	0.16261	N	0.020454684407766	0.42785	2.58456	-0.00974991343322435	0.39274	2.32609	3.21668443426285E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.65	4.65	0.57626	0.513000	0.22476	0.874000	0.22338	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.873000	0.41610	0.0:0.8998:0.0:0.1002	8.903	0.34663	793	0.45818	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1685.83	36	chr11	7938716	.	C	T	1685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=320;ExcessHet=0;FS=4.145;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.985;QD=12.97;ReadPosRankSum=-0.564;SOR=0.989	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr11	8474715	8474715	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289061:exon2:c.A191G:p.N64S,STK33:NM_001352393:exon2:c.A191G:p.N64S,STK33:NM_001352396:exon2:c.A68G:p.N23S,STK33:NM_001352397:exon2:c.A68G:p.N23S,STK33:NM_001352399:exon2:c.A191G:p.N64S,STK33:NM_001289058:exon3:c.A68G:p.N23S,STK33:NM_001352387:exon3:c.A191G:p.N64S,STK33:NM_001352391:exon3:c.A191G:p.N64S,STK33:NM_001352394:exon3:c.A68G:p.N23S,STK33:NM_001352395:exon3:c.A68G:p.N23S,STK33:NM_001352398:exon3:c.A68G:p.N23S,STK33:NM_030906:exon3:c.A191G:p.N64S,STK33:NM_001352388:exon4:c.A191G:p.N64S,STK33:NM_001352390:exon4:c.A191G:p.N64S,STK33:NM_001352392:exon4:c.A191G:p.N64S,STK33:NM_001352389:exon5:c.A191G:p.N64S	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0135606574936	.	0.000199681	0.0003	0	0	0	0	4.573e-05	0	0.0018	0.0002199	34	154602	rs570390366	0.0001	0.0001	8.045e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0	0.0003	3.06e-05	0.0001	0.0017	4.597e-05	4.593e-05	5.14e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0.0010	0.324	0.15047	T	0.77	0.21947	T	0.002	0.09854	B	0.001	0.04355	B	0.233437	0.03533	N	1.582870	1	0.08975	N	1.04	0.26193	L	-0.41	0.70365	T	0.1	0.09965	N	0.006	0.04072	-1.0378	0.17985	T	0.148	0.47451	T	10	0.008244723	0.00187	T	0.013561	0.33056	T	0.032	0.07718	0.186	0.09517	0.306053231325	0.30222	0.104759688149967	0.10405	0.0613836107594	0.06837	0.271363794804	0.06319	T	0.003726	0.08381	T	-0.60164	0.00142	T	-0.656005	0.08539	T	0.0424917169353681	0.04145	T	0.266073	0.04370	T	0.0163152	0.00190	0.019035386	0.00075	0.0163152	0.00189	0.019035386	0.00074	-3.07	0.10954	T	.	.	0.072	0.08899	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-2.515550	0.00031	0.001	0.1731051690130232	0.00499	0.00464	0.02234	N	AEI	0.094336	0.19076	N	-1.8900344798874	0.00360	0.01546363	-1.97750789674643	0.00341	0.01507939	3.62914443323609E-4	0.06707	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.98	-5.77	0.02176	-3.802000	0.00408	-2.544000	0.03626	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1247:0.2632:0.233:0.3791	1.332	0.02008	453	0.79178	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	735.83	34	chr11	8474715	.	T	C	735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=227;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-3.263;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	5	0	1	0
chr11	8621239	8621239	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon15:c.A2810G:p.Q937R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0279840144915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.181	0.29346	T	0.761	0.43566	P	0.332	0.42135	B	0.000132	0.49741	D	0.000000	0.963017	0.26042	N	2.47	0.71715	M	0.99	0.41750	T	-1.5	0.36980	N	0.165	0.19728	-1.0052	0.28397	T	0.106	0.38685	T	10	0.13149083	0.25026	T	0.027984	0.50729	D	0.128	0.35103	0.078	0.00601	0.597678041844	0.59447	0.4648957740633748	0.46408	.	.	0.525457262993	0.42395	T	0.005709	0.05159	T	-0.225475	0.17253	T	-0.561656	0.16222	T	0.921543419361115	0.58124	D	0.616838	0.23625	T	0.22723497	0.45420	0.15218635	0.35816	0.22723497	0.45420	0.15218635	0.35815	-3.897	0.22258	T	.	.	0.084	0.26762	B	.;.;.	.;.;.	3.567113	0.50221	22.9	0.9779040921773261	0.35995	0.86879	0.46259	D	AEFDBI	0.142844	0.26539	N	0.135467023779215	0.48123	3.028765	0.179644416757533	0.48733	3.085274	0.0174139578012526	0.12948	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	5.15	3.97	0.45241	0.492000	0.22144	3.580000	0.39154	0.654000	0.53741	0.100000	0.22794	1.000000	0.68203	0.784000	0.37066	0.0:0.0:0.1563:0.8437	10.92	0.46369	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1086.83	36	chr11	8621239	.	T	C	1086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=279;ExcessHet=0;FS=0.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.282;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	5	0	1	0
chr11	8717844	8717844	C	T	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376499:exon4:c.G986A:p.R329Q,DENND2B:NM_001376501:exon4:c.G266A:p.R89Q,DENND2B:NM_001376502:exon4:c.G266A:p.R89Q,DENND2B:NM_001376503:exon4:c.G266A:p.R89Q,DENND2B:NM_001376504:exon4:c.G266A:p.R89Q,DENND2B:NM_001376498:exon5:c.G1526A:p.R509Q,DENND2B:NM_213618:exon5:c.G1526A:p.R509Q,DENND2B:NM_001376497:exon6:c.G1526A:p.R509Q,DENND2B:NM_001376500:exon6:c.G845A:p.R282Q,DENND2B:NM_001376496:exon7:c.G1526A:p.R509Q,DENND2B:NM_139157:exon7:c.G266A:p.R89Q,DENND2B:NM_005418:exon8:c.G1526A:p.R509Q,DENND2B:NM_001376495:exon9:c.G1526A:p.R509Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	3658673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0178287707124	7.7e-05	.	6.594e-05	0.0004	0	0.0001	0.0002	2.998e-05	0	0	5.82e-05	9	154602	rs147807666	8.555e-05	8.551e-05	8.58e-05	8.531e-05	0.0004	7.316e-05	6.819e-05	0.0002	0.0002	0.0004	0.0002	3.83e-05	5.041e-05	7.489e-05	0.0002	7.737e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.714e-05	0.0001	8.434e-05	0.0002	0	0.0001	0	0	0.0002	0.0034	0.0001	0	0	0.052	0.65419	T	0.189	0.41405	T	0.212	0.36182	B	0.038	0.28043	B	0.011648	0.29451	N	0.299750	0.962124	0.81001	D	1.67	0.42885	L	3.0	0.09167	T	-1.9	0.48184	N	0.224	0.31478	-1.0702	0.09370	T	0.025	0.10910	T	10	0.094969034	0.16926	T	0.017829	0.39680	T	0.038	0.09825	.	.	0.328504224676	0.32467	0.3349839111627262	0.33411	0.753270066185	0.63885	0.602790951729	0.53298	T	0.051625	0.28933	T	-0.437302	0.01341	T	-0.523199	0.19971	T	0.0469592693617426	0.04958	T	0.990001	0.96919	D	0.16055606	0.36005	0.13225865	0.31741	0.16055606	0.36004	0.13225865	0.31740	-6.339	0.49031	T	.	.	0.098	0.36772	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.937253	0.81456	27.6	0.98190294356334995	0.39027	0.78603	0.38805	D	ALL	0.469846	0.51605	N	-0.28091705604091	0.29886	1.661332	-0.211567624281484	0.31119	1.758215	0.999999999977682	0.74766	0.706298	0.61202	0	0.616935	0.53198	0	0.709663	0.75317	0	0.654926	0.60358	0	.	.	5.01	4.1	0.47196	3.238000	0.51051	5.984000	0.52218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9249:0.0:0.0751	13.479	0.60777	503	0.75780	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1236.83	37	chr11	8717844	.	C	T	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.089;DP=254;ExcessHet=0;FS=2.02;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.731;SOR=0.47	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1247,0,646	5	0	1	0
chr11	9575939	9575939	G	T	exonic	WEE1	.	nonsynonymous SNV	WEE1:NM_003390:exon2:c.G628T:p.G210C	.	437	1062	23	0	0	23	0.0107126	.	.	.	713266	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0066	0.00459265	0.0070	0.0011	0.0030	0	0.0074	0.0077	0.0088	0.0143	0.0067852	1049	154602	rs34412975	0.0072	0.0072	0.0069	0.0075	0.0153	0.0071	0.0070	0.0136	0.0133	0.0011	0.0043	0.0130	2.52e-05	0.0064	0.0153	0.0070	0.0069	0.0143	0.0057	0.0057	0.0059	0.0055	0.0116	0.0054	0.0053	0.0092	0.0083	0.0012	0.0231	0.0033	0.0164	0	0.0063	0.0102	0.0082	0.0052	0.0116	0.191	0.21066	T	0.22	0.25907	T	0.903	0.49795	P	0.681	0.53500	P	0.000002	0.62929	D	0.101421	0.994513	0.81001	D	1.78	0.46185	L	1.96	0.22270	T	-1.08	0.28084	N	0.362	0.40364	-1.1158	0.02615	T	0.057	0.23828	T	10	0.0043308735	0.00088	T	.	.	.	0.078	0.22779	.	.	0.0675242888579	0.06100	0.2271782905260268	0.22632	2.07924409164	0.94569	0.5069013834	0.39789	T	0.083822	0.37141	T	-0.448019	0.01160	T	-0.404648	0.32845	T	0.0373513126381702	0.03218	T	0.748625	0.36937	T	0.21849239	0.44358	0.1837827	0.41390	0.21849239	0.44358	0.1837827	0.41389	-4.961	0.36414	T	.	.	0.155	0.34205	B	.	.	3.479777	0.48587	22.6	0.99495896507757953	0.67744	0.88010	0.47755	D	AEFDGBHCI	0.761164	0.69896	D	0.253786138618904	0.53827	3.549979	0.199519800987861	0.49820	3.180831	0.999999999672803	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.25	3.34	0.37357	4.023000	0.56921	5.093000	0.47370	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0834:0.0:0.9166:0.0	12.312	0.54257	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.000000	0.014946	0.008772	0.050000	0.000000	0.006098	0.022727	0.08333	1007.83	67	chr11	9575939	.	G	T	1007.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.239;DP=249;ExcessHet=0;FS=3.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.635;SOR=0.339	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	5	0	1	0
chr11	12204322	12204322	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon2:c.G337A:p.V113I,MICAL2:NM_001282667:exon2:c.G337A:p.V113I,MICAL2:NM_001282664:exon3:c.G337A:p.V113I,MICAL2:NM_001282665:exon3:c.G337A:p.V113I,MICAL2:NM_001346292:exon3:c.G337A:p.V113I,MICAL2:NM_001346294:exon3:c.G337A:p.V113I,MICAL2:NM_001346298:exon3:c.G337A:p.V113I,MICAL2:NM_001282663:exon4:c.G337A:p.V113I,MICAL2:NM_001282668:exon4:c.G337A:p.V113I,MICAL2:NM_001346293:exon4:c.G337A:p.V113I,MICAL2:NM_001346295:exon4:c.G337A:p.V113I,MICAL2:NM_001346296:exon4:c.G337A:p.V113I,MICAL2:NM_001346297:exon4:c.G337A:p.V113I,MICAL2:NM_001346299:exon4:c.G337A:p.V113I,MICAL2:NM_014632:exon4:c.G337A:p.V113I	.	430	1059	33	0	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0026	0.00778754	0.0055	0.0005	0.0024	0	0.0032	0.0039	0.0088	0.0211	0.0050064	774	154602	rs140406273	0.0042	0.0042	0.0038	0.0047	0.0197	0.0042	0.0041	0.0189	0.0186	0.0006	0.0018	3.826e-05	5.038e-05	0.0038	0.0069	0.0034	0.0053	0.0197	0.0029	0.0029	0.0026	0.0032	0.0178	0.0026	0.0026	0.0148	0.0137	0.0004	0	0.0041	0	0.0002	0.0044	0.0034	0.0031	0.0038	0.0178	0.053	0.56456	T	0.006	0.92824	D	0.104	0.25941	B	0.215	0.37512	B	0.000001	0.84330	D	0.000000	1	0.81001	D	0.51	0.13489	N	-3.73	0.95458	D	-0.99	0.26422	N	0.389	0.43029	0.385	0.88870	D	0.769	0.92157	D	9	0.008889675	0.00201	T	.	.	.	0.395	0.71004	.	.	0.769179187583	0.76706	0.7287106623859314	0.72815	0.441022210684	0.44097	0.584412813187	0.50707	T	0.038793	0.24967	T	-0.101395	0.36194	T	0.0978326	0.76765	D	0.023508386497665	0.01085	T	0.908909	0.69206	D	0.15731739	0.35455	0.13362809	0.32039	0.15731739	0.35454	0.13362809	0.32038	-8.562	0.65248	D	.	.	0.132	0.36315	B	.;.;.;.;.	.;.;.;.;.	4.339909	0.66570	25.0	0.998640528353262	0.94184	0.98884	0.88144	D	AEFBI	0.907839	0.86237	D	0.148236922659775	0.48730	3.081587	0.353058625645098	0.58690	4.041303	0.999999999999998	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	8.116000	0.89434	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.429	0.94749	900	0.24599	FAD-binding domain;.;FAD-binding domain;FAD-binding domain;FAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.08333	1826.83	33	chr11	12204322	.	G	A	1826.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.695;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.614;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1411	5	0	1	0
chr11	14968858	14968858	A	T	exonic	CALCA	.	nonsynonymous SNV	CALCA:NM_001033952:exon4:c.T367A:p.S123T,CALCA:NM_001741:exon4:c.T367A:p.S123T,CALCA:NM_001378949:exon5:c.T367A:p.S123T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0036	0.00399361	0.0010	0.0084	0.0009	0	0	0.0003	0.0022	6.056e-05	0.0011643	180	154602	rs34414857	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0096	0.0093	0.0105	0.0008	0	0	0	0.0055	0.0002	0.0015	5.797e-05	0.0026	0.0026	0.0028	0.0024	0.0078	0.0024	0.0023	0.0071	0.0068	0.0078	0	0.0022	0	0	0	0.0102	0.0003	0.0033	0.0002	0.598	0.05668	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.704043	0.10069	N	0.880307	1	0.08975	N	0	0.06538	N	2.97	0.09450	T	-0.27	0.11366	N	0.044	0.02179	-0.9405	0.42536	T	0.006	0.01944	T	10	0.004636109	0.00097	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.044982037475777094	0.04442	0.0231228169569	0.02342	0.244679197669	0.03228	T	0.248267	0.61804	T	-0.672689	0.00053	T	-0.733639	0.04165	T	0.00499389227834867	0.00054	T	0.361264	0.08331	T	0.037328105	0.04764	0.06076499	0.11626	0.037328105	0.04764	0.06076499	0.11626	-4.233	0.27226	T	.	.	0.072	0.04080	B	.;.	.;.	0.490042	0.08593	5.360	0.78112370442854595	0.12160	0.07454	0.13471	N	AEFBI	0.130234	0.24871	N	-1.29703603862192	0.03711	0.1662741	-1.3024213559813	0.04399	0.2074041	3.25495954472812E-4	0.06540	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.61	-1.12	0.09306	0.401000	0.20673	-0.391000	0.09475	-0.150000	0.12128	0.170000	0.23934	0.000000	0.08366	0.101000	0.18331	0.2112:0.3662:0.2709:0.1516	2.023	0.03299	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.010101	0.032609	0.005848	0.000000	0.008621	0.003049	0.000000	0.08333	1164.83	33	chr11	14968858	.	A	T	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.726;DP=290;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.946;SOR=0.83	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1336	5	0	1	0
chr11	14971189	14971189	C	G	exonic	CALCA	.	nonsynonymous SNV	CALCA:NM_001033952:exon2:c.G4C:p.G2R,CALCA:NM_001033953:exon2:c.G4C:p.G2R,CALCA:NM_001378950:exon2:c.G4C:p.G2R,CALCA:NM_001741:exon2:c.G4C:p.G2R,CALCA:NM_001378949:exon3:c.G4C:p.G2R	.	422	1093	6	1	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	0.0036	0.00399361	0.0010	0.0084	0.0010	0	0	0.0003	0.0022	6.056e-05	0.0011772	182	154602	rs34587547	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0096	0.0092	0.0105	0.0008	0	0	0	0.0059	0.0002	0.0015	5.798e-05	0.0026	0.0026	0.0028	0.0024	0.0078	0.0024	0.0023	0.0071	0.0069	0.0078	0	0.0023	0	0	0	0.0102	0.0004	0.0033	0.0002	0.027	0.46513	D	0.024	0.58089	D	0.734	0.90584	P	0.833	0.81110	P	0.000988	0.40743	D	0.244383	0.710594	0.81001	D	3.11	0.87757	M	1.85	0.24472	T	-3.93	0.73267	D	0.517	0.57177	-0.7281	0.59059	T	0.085	0.33128	T	10	0.012264252	0.00264	T	.	.	.	0.169	0.43123	.	.	0.439870908748	0.43606	0.0924000607798377	0.09172	0.177302637107	0.19951	0.464631319046	0.33944	T	0.294148	0.79757	T	-0.412528	0.01913	T	-0.359935	0.38061	T	0.0478688150115179	0.05121	T	0.706729	0.31713	T	0.08893046	0.20761	0.16220537	0.37691	0.08893046	0.20760	0.16220537	0.37690	-4.801	0.34603	T	.	.	0.271	0.59199	B	.;.;.;.	.;.;.;.	3.710907	0.52979	23.3	0.9991252069161134	0.98167	0.97191	0.73226	D	AEFDBI	0.535339	0.55400	D	0.490496471437307	0.66534	4.962524	0.413323662105587	0.62393	4.454051	0.999667844218576	0.41534	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.69	2.8	0.31881	2.509000	0.45120	1.058000	0.23696	-0.171000	0.11205	1.000000	0.71638	0.981000	0.30433	0.976000	0.56436	0.0:0.8316:0.0:0.1684	9.967	0.40905	683	0.59664	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.005051	0.033967	0.005882	0.000000	0.008621	0.003067	0.000000	0.08333	503.83	39	chr11	14971189	.	C	G	503.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.772;DP=245;ExcessHet=0;FS=0.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.413;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	5	0	1	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	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	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.08333	929.83	34	chr11	17169343	.	A	C	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.828;DP=253;ExcessHet=0;FS=5.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.295;SOR=0.812	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	5	0	1	0
chr11	17631896	17631896	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon40:c.C6943T:p.R2315C,OTOG:NM_001292063:exon41:c.C6907T:p.R2303C	Deafness, autosomal recessive 18B, Autosomal recessive	14	1500	8	0	0	8	0.00265957	.	.	.	230142	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.339	0.0860967575219	.	0.000599042	0.0009	0	0.0070	0	0.0050	0.0006	0	0.0004	0.0002911	45	154602	rs568549806	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0011	0.0011	0.0004	0.0009	3.971e-05	0	0.0028	0.0004	0.0012	0.0011	0.0004	0.0011	0.0011	0.0010	0.0011	0.0024	0.0009	0.0009	0.0017	0.0015	0.0002	0	0.0024	0	0.0002	0.0020	0	0.0013	0.0009	0.0006	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	0.006916	0.31720	N	0.279306	0.814851	0.34692	D	1.1	0.28011	L	-1.14	0.77843	T	-4.38	0.77143	D	0.27	0.34767	-0.1846	0.78064	T	0.377	0.73438	T	10	0.014726251	0.00309	T	0.086097	0.74668	D	0.339	0.66106	.	.	0.722628367933	0.72017	0.4242724342476483	0.42344	.	.	0.513382971287	0.40695	T	0.298186	0.67076	T	-0.282987	0.10354	T	-0.219801	0.52755	T	0.0477650295181255	0.05101	T	0.929607	0.73996	D	0.19819108	0.41713	0.17662154	0.40209	0.23356931	0.46163	0.18804988	0.42072	-8.866	0.66830	D	.	.	0.287	0.51959	B	.;.	.;.	4.831670	0.78802	27.0	0.99934917744021523	0.99579	0.25449	0.22702	N	AEFDBHCI	0.171800	0.29880	N	0.25986776934423	0.54129	3.57926	0.246614542634577	0.52458	3.420395	0.0561094863568954	0.15042	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.69	3.73	0.41982	0.559000	0.23190	1.827000	0.29086	0.599000	0.40250	0.793000	0.29632	0.999000	0.35428	0.994000	0.71098	0.0:0.6316:0.283:0.0854	7.831	0.28502	676	0.60355	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	912.83	36	chr11	17631896	.	C	T	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.19;DP=258;ExcessHet=0;FS=1.977;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.692;SOR=0.489	GT:AD:DP:GQ:PL	0/1:40,32:72:99:923,0,995	5	0	1	0
chr11	18291681	18291681	C	T	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon15:c.G1859A:p.R620Q,HPS5:NM_181508:exon15:c.G1859A:p.R620Q,HPS5:NM_181507:exon16:c.G2201A:p.R734Q	Hermansky-Pudlak syndrome 5	.	.	.	.	.	.	.	.	.	.	1461335	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.0172362263528	.	.	3.295e-05	0	0	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs774037351	5.814e-05	5.814e-05	5.173e-05	6.463e-05	0.0002	4.809e-05	4.431e-05	5.797e-05	5.365e-05	0	0	0	0	0	0.0002	7.104e-05	3.312e-05	3.478e-05	3.283e-05	3.281e-05	2.569e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	1.0	0.00964	T	0.966	0.02509	T	0.0	0.02946	B	0.001	0.04355	B	0.293834	0.14719	N	0.700616	1	0.08975	N	-1.19	0.00851	N	-0.78	0.73631	T	0.53	0.02808	N	0.132	0.12770	-0.9538	0.40310	T	0.080	0.31735	T	10	0.03172037	0.01311	T	0.017236	0.38857	T	0.082	0.23913	0.23	0.15705	0.441949972293	0.43817	0.05718495047371395	0.05659	0.0577316834944	0.06392	0.268010914326	0.05883	T	0.052583	0.29203	T	-0.372018	0.03494	T	-0.590627	0.13612	T	0.0389152024365699	0.03495	T	0.20078	0.02277	T	0.013736912	0.00068	0.026675934	0.00770	0.013736912	0.00068	0.026675934	0.00770	-2.795	0.09548	T	.	.	0.056	0.00563	B	.;.;.	.;.;.	0.933979	0.13095	9.596	0.13997350357197483	0.00294	0.01563	0.05111	N	AEFGBI	0.028761	0.02595	N	-1.31085285793432	0.03550	0.1587806	-1.12661005269876	0.07195	0.3490739	0.00728670179517482	0.11429	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.56	0.601	0.16708	-0.043000	0.11996	-0.081000	0.12176	-0.108000	0.15293	0.408000	0.26234	0.862000	0.27499	0.586000	0.31041	0.2276:0.3242:0.0:0.4482	4.604	0.11758	640	0.64132	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1212.83	34	chr11	18291681	.	C	T	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.144;DP=280;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	5	0	1	0
chr11	18296116	18296116	A	G	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon12:c.T1175C:p.V392A,HPS5:NM_181508:exon12:c.T1175C:p.V392A,HPS5:NM_181507:exon13:c.T1517C:p.V506A	Hermansky-Pudlak syndrome 5	1	1520	1	0	0	1	0.000328839	.	.	.	1385621	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00908733472691	.	.	0.0001	0	0	0	0	4.507e-05	0	0.0006	9.06e-05	14	154602	rs754269779	8.555e-05	8.619e-05	4.903e-05	0.0001	0.0012	7.316e-05	6.819e-05	0.0010	0.0009	0	0	0	0	0	0.0002	7.198e-06	0.0002	0.0012	3.281e-05	3.28e-05	2.568e-05	4.026e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.332	0.13175	T	0.452	0.13215	T	0.005	0.12996	B	0.009	0.14300	B	0.445645	0.12572	N	0.690817	0.997743	0.22526	N	1.905	0.50856	L	0.52	0.55266	T	-0.67	0.19933	N	0.307	0.34659	-1.0933	0.05005	T	0.085	0.33241	T	10	0.02579701	0.00763	T	0.009087	0.23917	T	0.044	0.11924	0.122	0.02867	0.500868654924	0.49723	0.15856084757742578	0.15777	0.0664007650245	0.07407	0.39311388135	0.24108	T	0.097217	0.39981	T	-0.492158	0.00632	T	-0.54855	0.17466	T	0.0332657881081104	0.02515	T	0.537746	0.18100	T	0.021605503	0.00772	0.030259555	0.01460	0.021605503	0.00772	0.030259555	0.01459	-3.543	0.17153	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.858460	0.23606	16.08	0.91361038537194861	0.20625	0.95104	0.63452	D	AEFBI	0.145174	0.26832	N	-0.460065306149911	0.23401	1.256347	-0.274755272094978	0.28932	1.617038	0.194900097606013	0.18046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	2.96	0.33383	1.790000	0.38366	2.908000	0.35491	0.756000	0.94297	0.814000	0.29906	0.991000	0.31484	0.995000	0.73285	0.7903:0.0:0.2097:0.0	9.608	0.38810	611	0.66908	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.08333	911.83	80	chr11	18296116	.	A	G	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.41;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.451;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1160	5	0	1	0
chr11	18536418	18536418	T	G	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon8:c.A722C:p.Q241P,UEVLD:NM_001261382:exon9:c.A1046C:p.Q349P,UEVLD:NM_001261383:exon9:c.A1046C:p.Q349P,UEVLD:NM_001040697:exon10:c.A1112C:p.Q371P,UEVLD:NM_001261385:exon10:c.A998C:p.Q333P,UEVLD:NM_018314:exon10:c.A1112C:p.Q371P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.21845378033	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs748427358	8.895e-06	8.893e-06	8.169e-06	9.628e-06	0.0005	4.96e-06	3.82e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	6.296e-06	0	3.478e-05	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.056	0.57480	T	0.139	0.42086	T	0.003	0.51791	B	0.012	0.50566	B	0.010458	0.29920	N	0.351400	0.999014	0.81001	D	2.15	0.60148	M	-0.29	0.82897	T	-2.43	0.53258	N	0.672	0.71055	-0.0676	0.80832	T	0.509	0.81556	D	10	0.6854317	0.71533	D	0.218454	0.87659	D	0.451	0.75143	.	.	0.932228256787	0.93153	0.8386657762499397	0.83826	0.118816684937	0.13377	0.422471940517	0.28177	T	0.075494	0.35190	T	0.129095	0.67273	D	0.0553167	0.73933	D	0.475587636232376	0.31736	T	0.80112	0.57574	T	0.77881736	0.82581	0.59974384	0.76749	0.77881736	0.82583	0.59974384	0.76750	-6.328	0.50464	T	.	.	0.089	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.830182	0.37313	20.5	0.92661553882990999	0.22142	0.80407	0.40053	D	ALL	0.656011	0.62815	D	0.0541006133159418	0.44332	2.709157	0.136632947412659	0.46437	2.889744	0.99995297989965	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	4.202000	0.58243	3.455000	0.38473	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.546000	0.30079	0.0:0.0:0.0:1.0	12.063	0.52872	569	0.70546	Lactate/malate dehydrogenase, C-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1120.83	36	chr11	18536418	.	T	G	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.669;DP=266;ExcessHet=0;FS=0.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.64;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	5	0	1	0
chr11	18743076	18743076	C	G	splicing	PTPN5	NM_006906:exon6:c.400-1G>C;NM_001039970:exon6:c.304-1G>C;NM_001278238:exon5:c.328-1G>C;NM_001278236:exon6:c.304-1G>C;NM_001278239:exon5:c.232-1G>C;NM_032781:exon6:c.400-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251585	0.78750	D	0.123608	0.78474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.913410	0.80858	27.4	0.99503721698714154	0.68206	0.94388	0.61006	D	AEFBI	.	.	.	0.902652147347685	0.91887	11.11847	0.703708665062503	0.82661	7.822438	0.752171779830863	0.23378	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.96363	0.67284	4.77	4.77	0.60425	4.190000	0.58162	7.629000	0.62648	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	14.512	0.67376	809	0.43032	.;.;.	.	.	.	.	.	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	785.83	67	chr11	18743076	.	C	G	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.948;DP=250;ExcessHet=0;FS=0.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.038;SOR=0.913	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr11	21370879	21370879	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon14:c.G1405A:p.G469S,NELL1:NM_006157:exon15:c.G1576A:p.G526S,NELL1:NM_201551:exon15:c.G1576A:p.G526S,NELL1:NM_001288713:exon16:c.G1660A:p.G554S	.	.	.	.	.	.	.	.	.	.	.	2816532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.740	0.275163330425	0.0003	0.00139776	0.0007	0.0003	0	0	0	0.0005	0.0012	0.0031	0.0006598	102	154602	rs8176788	0.0008	0.0009	0.0008	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0002	0.0001	0	2.529e-05	0	0.0003	0.0009	0.0012	0.0019	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0003	0	0	0	0	0.0008	0	0.0017	0.0	0.91255	D	0.075	0.58613	T	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-1.51	0.93291	D	-4.62	0.79399	D	0.734	0.78356	1.001	0.97197	D	0.914	0.97167	D	10	0.057688713	0.06664	T	0.275163	0.90027	D	0.740	0.90982	.	.	0.969889004412	0.96956	0.6082885983573966	0.60760	0.44573178934	0.44459	0.529697835445	0.42991	T	0.107027	0.75768	T	0.0367028	0.56612	T	0.274707	0.86833	D	0.130252653631119	0.15405	T	0.948805	0.85785	D	0.45702574	0.64486	0.4500253	0.67991	0.45702574	0.64486	0.4500253	0.67992	-8.89	0.66985	D	.	.	0.166	0.45372	B	.;.;.;.	.;.;.;.	5.170362	0.86660	29.0	0.99894476410976019	0.96742	0.98499	0.83426	D	AEFDIJ	0.933363	0.92515	D	0.927450331185441	0.93038	11.78275	0.864539922029506	0.93836	12.31449	0.999869752848136	0.44398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	8.777000	0.91421	11.686000	0.94288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.704	0.91594	981	0.03995	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	768.83	33	chr11	21370879	.	G	A	768.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=221;ExcessHet=0;FS=10.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.151;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	5	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T,ELP4:NM_001288725:exon11:c.G1323C:p.E441D	.	422	1070	30	0	0	30	0.0138249	.	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.005051	0.004076	0.014620	0.000000	0.017241	0.012195	0.018939	0.1667	1876.04	58	chr11	31783430	.	G	C	1876.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.35;SOR=1.085	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	1	0	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	31.91	59	chr11	33085953	.	G	A	31.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.303;DP=318;ExcessHet=0;FS=95.007;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.2;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:47:.:.:0,47,1306:.	2	0	1	3
chr11	34957475	34957475	A	G	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001135024:exon4:c.A389G:p.K130R,PDHX:NM_003477:exon4:c.A434G:p.K145R	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1898945	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0070515273862	.	.	1.648e-05	9.626e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs371030372	2.737e-06	2.736e-06	1.361e-06	4.126e-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	3.286e-05	3.284e-05	5.14e-05	1.345e-05	4.828e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.828e-05	0	0	0	0	0	0	4.41e-05	0	0	0.12	0.27904	T	0.196	0.27943	T	0.457	0.36287	P	0.119	0.32162	B	0.014052	0.28650	N	0.394655	1	0.81001	D	2.615	0.76484	M	2.65	0.25182	T	-0.96	0.25770	N	0.162	0.17002	-1.0924	0.05144	T	0.034	0.14552	T	10	0.11598998	0.21868	T	0.007052	0.18676	T	0.019	0.03383	0.314	0.28935	0.401042353794	0.39719	0.3302058579611989	0.32933	0.037617210021	0.03990	0.384444594383	0.22885	T	0.022908	0.63954	T	-0.265713	0.12238	T	-0.437927	0.29041	T	0.221016943454742	0.21515	T	0.726327	0.35246	T	0.05471112	0.10533	0.07317235	0.15872	0.05471112	0.10532	0.07317235	0.15871	-6.799	0.56231	T	0.16493990485406312	0.20416	0.084	0.12797	B	.;.;.;.	.;.;.;.	2.450888	0.31561	18.78	0.989336674071563	0.48807	0.80591	0.40189	D	AEFDBI	0.177363	0.30460	N	-0.0320362436018763	0.40408	2.399185	0.093502754033943	0.44220	2.708067	0.999915516054865	0.45857	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.93	4.8	0.61157	1.862000	0.39088	3.629000	0.39309	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.7881:0.0:0.2119:0.0	7.588	0.27171	719	0.55657	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	691.83	39	chr11	34957475	.	A	G	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.888;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.11;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1207	5	0	1	0
chr11	35222374	35222374	G	A	splicing	CD44	NM_001202557:exon9:c.882-1G>A	.	.	.	421	1071	28	2	0	32	0.0147194	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0096	0.0022	0.0103	0	0.0049	0.0066	0.0097	0.0141	0.0024838	384	154602	rs140184039	0.0118	0.0097	0.0118	0.0119	0.0139	0.0117	0.0116	0.0132	0.0129	0.0020	0.0036	0.0030	7.942e-05	0.0047	0.0103	0.0127	0.0128	0.0139	0.0067	0.0067	0.0070	0.0065	0.0139	0.0064	0.0063	0.0113	0.0103	0.0020	0.0033	0.0052	0.0023	0.0004	0.0044	0.0136	0.0106	0.0071	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	523.83	35	chr11	35222374	.	G	A	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=242;ExcessHet=0;FS=5.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.951;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	5	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	30.69	127	chr11	36592939	.	C	G	30.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.964;DP=521;ExcessHet=0;FS=123.02;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=3.19;SOR=7.222	GT:AD:DP:GQ:PL	./.:96,0:96:0:0,0,1738	4	0	1	1
chr11	40116285	40116285	T	G	exonic	LRRC4C	.	nonsynonymous SNV	LRRC4C:NM_020929:exon5:c.A8C:p.N3T,LRRC4C:NM_001258419:exon7:c.A8C:p.N3T	.	428	1078	16	0	0	16	0.00736648	.	.	.	3212752	LRRC4C-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0235054350127	0.0024	0.00199681	0.0026	0	0.0014	0	0.0003	0.0038	0.0035	0.0023	0.002652	410	154602	rs144974170	0.0034	0.0034	0.0034	0.0035	0.0071	0.0033	0.0033	0.0053	0.0047	0.0006	0.0018	0.0036	0	0.0004	0.0071	0.0038	0.0041	0.0025	0.0025	0.0025	0.0025	0.0025	0.0037	0.0023	0.0022	0.0033	0.0032	0.0007	0.0230	0.0026	0.0040	0	0.0002	0.0102	0.0037	0.0043	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.947	0.53479	P	0.727	0.55167	P	0.000001	0.84330	D	0.053882	0.999953	0.52396	D	1.39	0.34934	L	0.42	0.56937	T	-0.09	0.89534	N	0.714	0.73015	-0.8007	0.55103	T	0.137	0.45394	T	10	0.008387715	0.00190	T	0.023505	0.46474	T	0.195	0.47612	.	.	0.293707238958	0.28979	0.581826371327186	0.58111	1.70255623673	0.90341	0.789652109146	0.80390	T	0.047222	0.27658	T	-0.319918	0.06905	T	-0.231913	0.51587	T	0.0550466619877694	0.06364	T	0.791221	0.43226	T	0.39905316	0.60666	0.41884845	0.65896	0.39905316	0.60667	0.41884845	0.65896	-2.874	0.08886	T	.	.	0.111	0.48715	B	.;.;.;.;.;.	.;.;.;.;.;.	4.519201	0.70844	25.6	0.99595501067307068	0.73866	0.98159	0.80110	D	AEFBI	0.935509	0.93047	D	0.571494797106875	0.71401	5.645158	0.639552788728443	0.77837	6.756512	0.991222192547175	0.32415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.243	0.73179	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004541	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.08333	1031.83	38	chr11	40116285	.	T	G	1031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.037;DP=272;ExcessHet=0;FS=8.087;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.23;SOR=0.41	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr11	45224290	45224290	T	A	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001256695:exon7:c.T816A:p.H272Q,PRDM11:NM_001256696:exon7:c.T816A:p.H272Q,PRDM11:NM_001384648:exon7:c.T816A:p.H272Q,PRDM11:NM_001359633:exon8:c.T816A:p.H272Q	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0061	0.00379393	0.0015	0.0171	0.0004	0	0	3.008e-05	0	0	0.0013777	213	154602	rs115143919	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0005	0	0	0	0.0005	1.799e-06	0.0009	8.118e-05	0.0044	0.0044	0.0045	0.0043	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0019	0	0	0	0	2.94e-05	0.0033	0	0.975	0.02030	T	0.5	0.11190	T	0.0	0.02946	B	0.001	0.04355	B	0.634487	0.10656	N	0.830577	1	0.08975	N	-0.69	0.01958	N	0.92	0.44461	T	-0.16	0.09460	N	0.056	0.02759	-1.0195	0.23877	T	0.017	0.06950	T	10	0.0027053952	0.00042	T	.	.	.	0.024	0.04979	0.343	0.33626	0.043077524339	0.03247	0.14783749452222678	0.14705	0.357644618357	0.37474	0.306032061577	0.11308	T	0.013802	0.11871	T	-0.740942	0.00020	T	-0.824115	0.01371	T	0.00127358545716466	0.00013	T	0.525647	0.17278	T	0.04269363	0.06520	0.04864536	0.07268	0.04269363	0.06520	0.04864536	0.07268	-1.898	0.03258	T	.	.	0.073	0.10835	B	.;.;.	.;.;.	0.487736	0.08571	5.336	0.69152260471539462	0.08881	0.05983	0.11944	N	AEFBI	0.030625	0.03118	N	-1.28272869235754	0.03883	0.1742861	-1.20735476006906	0.05791	0.2769173	0.170520924766835	0.17729	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.58	-3.07	0.05038	-0.235000	0.09031	0.111000	0.14782	-0.153000	0.12021	0.075000	0.22209	0.868000	0.27561	0.990000	0.65344	0.1145:0.287:0.2318:0.3666	2.883	0.05304	640	0.64132	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	4343.04	132	chr11	45224290	.	T	A	4343.04	.	AC=2;AF=0.167;AN=12;DP=315;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.9;SOR=1.119	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	1	0	0
chr11	46679387	46679387	A	G	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon12:c.T1109C:p.F370S	.	.	.	.	.	.	.	.	.	.	.	3573255	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0154253642114	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947849528	2.531e-05	2.531e-05	2.178e-05	2.888e-05	0.0010	1.868e-05	1.631e-05	0.0005	0.0003	8.961e-05	0	0	0	0	0.0010	2.158e-05	6.623e-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	0.006	0.61437	D	0.008	0.67890	D	0.87	0.47827	P	0.434	0.45506	B	0.000012	0.62929	D	0.149414	0.999902	0.50806	D	1.59	0.40313	L	2.19	0.18724	T	-4.85	0.81107	D	0.624	0.63883	-1.1087	0.03183	T	0.067	0.27674	T	10	0.86507463	0.85747	D	0.015425	0.36156	T	0.268	0.58254	0.801	0.92017	0.417208245017	0.41340	0.5376796021757463	0.53692	1.06429463323	0.76581	0.490781217813	0.37547	T	0.331127	0.70124	T	0.0446889	0.57656	T	-0.173584	0.57115	T	0.974756956100464	0.70641	D	0.89751	0.64163	D	0.75814104	0.81344	0.7581516	0.85709	0.75814104	0.81345	0.7581516	0.85710	-9.417	0.70341	D	.	.	0.696	0.72778	P	.	.	4.792728	0.77791	26.8	0.99848649891550012	0.92838	0.94616	0.61748	D	AEFDGBCI	0.688583	0.64953	D	0.424689452842166	0.62782	4.500051	0.479362985206923	0.66624	4.97637	0.999966623410872	0.48965	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	4.119000	0.57638	9.273000	0.79652	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.706	0.77340	16	0.98727	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	850.83	35	chr11	46679387	.	A	G	850.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.799;DP=266;ExcessHet=0;FS=5.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.514;SOR=1.418	GT:AD:DP:GQ:PL	0/1:48,33:81:99:861,0,1343	5	0	1	0
chr11	47166366	47166366	C	T	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon14:c.G1363A:p.V455M,ARFGAP2:NM_032389:exon15:c.G1447A:p.V483M	.	420	1100	2	0	0	2	0.000908265	.	.	.	4045864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0145158435906	.	.	5.771e-05	0	8.637e-05	0	0	7.499e-05	0	6.078e-05	4.53e-05	7	154602	rs748232896	4.857e-05	4.857e-05	3.403e-05	6.325e-05	0.0019	3.926e-05	3.605e-05	0.0011	0.0008	0	6.708e-05	0	2.519e-05	0	0.0019	2.878e-05	9.934e-05	0.0002	3.941e-05	3.94e-05	2.568e-05	5.378e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.878e-05	0	0.0002	0.064	0.36509	T	0.143	0.33219	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.98	0.53716	M	3.43	0.05440	T	-1.58	0.38151	N	0.739	0.78927	-1.1789	0.00386	T	0.086	0.33326	T	10	0.4970096	0.61325	T	0.014516	0.34691	T	0.149	0.39377	0.363	0.36874	0.407489863969	0.40359	0.4439498103081316	0.44312	0.800887620473	0.66244	0.747701883316	0.74107	T	0.022073	0.17078	T	-0.207445	0.19742	T	-0.243608	0.50445	T	0.151124179363251	0.17192	T	0.913309	0.70674	D	0.22099051	0.44667	0.17812112	0.40460	0.22099051	0.44667	0.17812112	0.40460	-5.305	0.39993	T	.	.	0.197	0.45458	B	.;.;.	.;.;.	4.121667	0.61610	24.4	0.99876278948045782	0.95328	0.96464	0.69269	D	AEFGBCI	0.630975	0.61212	D	0.635591707825521	0.75438	6.306083	0.655408912042853	0.79014	6.993738	0.999999996630405	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	5.830000	0.69016	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.877	0.96882	23	0.98420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1778.83	34	chr11	47166366	.	C	T	1778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=308;ExcessHet=0;FS=1.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.37;SOR=0.547	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1175	5	0	1	0
chr11	47182475	47182475	C	T	exonic	PACSIN3	.	nonsynonymous SNV	PACSIN3:NM_001184974:exon4:c.G139A:p.A47T,PACSIN3:NM_001184975:exon4:c.G139A:p.A47T,PACSIN3:NM_016223:exon4:c.G139A:p.A47T	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0501272211188	0.0002	0.000199681	0.0011	0	0.0093	0	0	0.0003	0	0	0.0008667	134	154602	rs199499148	0.0003	0.0003	0.0003	0.0002	0.0071	0.0002	0.0002	0.0064	0.0062	0	0.0071	0	2.519e-05	2.094e-05	0.0003	4.317e-05	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0012	0.0010	4.812e-05	0	0.0017	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.845	0.82663	M	1.92	0.23082	T	-3.22	0.72471	D	0.934	0.93959	-0.6232	0.63856	T	0.206	0.56403	T	10	0.016210556	0.00341	T	0.050127	0.64108	D	0.563	0.82118	.	.	0.818875758993	0.81716	0.6838973200823298	0.68328	1.1876170878	0.80188	0.750113368034	0.74463	T	0.299852	0.67237	T	-0.0548886	0.43702	T	0.155629	0.80537	D	0.139587276474815	0.16240	T	0.995817	0.99030	D	0.8648212	0.88456	0.8267118	0.89971	0.8648212	0.88457	0.8267118	0.89972	-8.352	0.63445	D	.	.	0.650	0.72577	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.492840	0.91499	32	0.99924247143143952	0.98980	0.98483	0.83254	D	AEFDGBI	0.935564	0.93062	D	0.860035418151596	0.89671	10.06882	0.800122946946798	0.89801	10.12722	0.999999999999984	0.74766	0.712529	0.81865	0	0.610034	0.51514	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.905000	0.86479	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.688	0.91530	27	0.98276	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain;FCH domain|F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1099.83	39	chr11	47182475	.	C	T	1099.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=281;ExcessHet=0;FS=5.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.742;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	5	0	1	0
chr11	47349898	47349898	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.G530A:p.R177H	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	51937	Left_ventricular_noncompaction_10|hyprtrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_4|Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|.|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.390	.	0.0034	0.00299521	0.0009	0.0126	0.0004	0	0	7.294e-05	0	0	0.0008473	131	154602	rs201012766	0.0004	0.0004	0.0004	0.0003	0.0132	0.0003	0.0003	0.0122	0.0118	0.0132	0.0006	0	5.065e-05	3.795e-05	0	2.613e-05	0.0006	4.694e-05	0.0037	0.0037	0.0041	0.0033	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0011	0	0	0	0	5.883e-05	0.0014	0	0.005	0.65419	D	0.004	0.74150	D	0.889	0.48869	P	0.633	0.51840	P	.	.	.	.	0.982084	0.24990	N	1.445	0.36358	L	-0.28	0.67543	T	-2.82	0.59545	D	0.782	0.77883	-0.8549	0.51627	T	0.204	0.56238	T	9	0.015560389	0.00327	T	.	.	.	0.390	0.70603	.	.	0.880036483968	0.87886	0.6288740226593559	0.62820	0.279544546936	0.30444	0.372922211885	0.21250	T	0.588716	0.86643	D	-0.226428	0.17122	T	-0.0863479	0.64436	T	0.0946443802522424	0.11757	T	0.89481	0.63428	D	0.22860953	0.45583	0.25742054	0.51458	0.19593479	0.41400	0.23412961	0.48621	-8.707	0.65791	D	0.5609166292665378	0.62869	0.242	0.57317	B	.;.;.	.;.;.	3.819980	0.55149	23.6	0.99910323166999659	0.98022	0.28594	0.23596	N	AEFDGBI	0.511273	0.53997	D	0.112933676544201	0.47066	2.937531	0.0707150244881325	0.43085	2.617537	0.996065931217963	0.34501	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.8	2.88	0.32617	1.300000	0.33040	3.269000	0.37146	0.599000	0.40250	0.804000	0.29773	0.998000	0.33993	0.245000	0.23132	0.1512:0.62:0.0:0.2288	5.886	0.18129	18	0.98631	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	0.001009	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	2457.04	79	chr11	47349898	.	C	T	2457.04	.	AC=2;AF=0.167;AN=12;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.1;SOR=0.824	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1200	5	1	0	0
chr11	48145065	48145065	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon14:c.C2852T:p.A951V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0040	0.00319489	0.0011	0.0118	0.0003	0	0	2.997e-05	0	0	0.0009638	149	154602	rs61738506	0.0004	0.0004	0.0004	0.0003	0.0142	0.0003	0.0003	0.0132	0.0128	0.0142	0.0005	0	0	0	0	6.295e-06	0.0006	2.319e-05	0.0039	0.0039	0.0044	0.0034	0.0138	0.0037	0.0036	0.0128	0.0125	0.0138	0	0.0011	0	0	0	0	5.88e-05	0.0024	0	0.212	0.19500	T	0.337	0.20486	T	0.514	0.37393	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	1.735	0.44892	L	2.54	0.13916	T	-1.15	0.29525	N	0.166	0.17691	-1.0274	0.21299	T	0.019	0.07893	T	9	0.0046988726	0.00099	T	.	.	.	0.077	0.22490	.	.	0.282179105231	0.27821	0.27758756153896597	0.27671	0.320752863791	0.34277	0.311013132334	0.12060	T	0.080311	0.46609	T	-0.670203	0.00055	T	-0.7238	0.04614	T	0.0122571640825585	0.00198	T	0.846715	0.52677	T	0.029526496	0.02461	0.076916374	0.17085	0.03403723	0.03743	0.098585755	0.23508	-1.822	0.02576	T	.	.	0.084	0.16275	B	.;.;.	.;.;.	1.379146	0.17904	13.44	0.97008922955707733	0.31977	0.04030	0.09467	N	AEFGBI	0.039640	0.05785	N	-0.684666819486773	0.16459	0.8387188	-0.753159145433334	0.15645	0.8238447	0.888317977692144	0.25785	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	-0.491	0.11444	0.491000	0.22128	.	.	0.599000	0.40250	0.000000	0.06391	0.003000	0.18671	0.330000	0.25202	0.7205:0.2795:0.0:0.0	13.290	0.59701	137	0.94565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	2561.04	77	chr11	48145065	.	C	T	2561.04	.	AC=2;AF=0.167;AN=12;DP=272;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.26;SOR=1.55	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1497	5	1	0	0
chr11	48264081	48264081	T	G	exonic	OR4X1	.	nonsynonymous SNV	OR4X1:NM_001004726:exon1:c.T221G:p.V74G	.	.	.	.	.	.	.	.	.	.	.	3577781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.00373320558787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021046330	5.473e-06	5.472e-06	8.168e-06	2.75e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.444	0.35956	B	0.164	0.34953	B	.	.	.	.	0.697496	0.30134	N	2.615	0.76484	M	6.59	0.00519	T	-2.32	0.51478	N	0.398	0.43899	-1.1235	0.02121	T	0.003	0.01059	T	9	0.13852462	0.26344	T	0.003733	0.08651	T	0.170	0.43303	0.33	0.31519	0.305730143919	0.30178	0.09151627710108598	0.09084	0.00263683917289	0.00224	0.259321421385	0.04810	T	0.007945	0.07319	T	-0.0852366	0.38860	T	-0.360213	0.38028	T	0.216488048434258	0.21287	T	0.564644	0.19916	T	0.35110608	0.57153	0.35007322	0.60623	0.35110608	0.57153	0.35007322	0.60622	-7.483	0.57491	T	.	.	0.143	0.31431	B	.	.	1.595439	0.20400	14.73	0.97419192977934654	0.33865	0.23605	0.22130	N	AEFBI	0.141350	0.26350	N	-0.311819999571198	0.28697	1.585091	-0.418839836411941	0.24444	1.338588	2.04214025352896E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	1.98	0.25351	-0.749000	0.04918	.	.	0.556000	0.28261	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.1999:0.0:0.8	7.108	0.24551	120	0.95183	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	.	.	.	.	.	.	.	.	0.08333	3792.83	43	chr11	48264081	.	T	G	3792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=371;ExcessHet=0;FS=0.529;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.307;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,99:191:99:0|1:48264081_T_G:3803,0,3535:48264081	5	0	1	0
chr11	48264084	48264084	T	-	exonic	OR4X1	.	frameshift deletion	OR4X1:NM_001004726:exon1:c.224delT:p.M75Rfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399645021	5.473e-06	5.472e-06	8.168e-06	2.75e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3789.79	43	chr11	48264083	.	AT	A	3789.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=371;ExcessHet=0;FS=0.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=-1.035;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,99:192:99:0|1:48264081_T_G:3800,0,3570:48264081	5	0	1	0
chr11	50033596	50033596	T	G	exonic	OR4C45	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343933157	0.0003	0.0003	0.0004	0.0003	0.0139	0.0003	0.0003	0.0127	0.0122	0.0139	0.0002	0	0	0	0	6.758e-06	0.0004	2.664e-05	0.0038	0.0038	0.0043	0.0032	0.0133	0.0035	0.0034	0.0124	0.0120	0.0133	0	0.0009	0	0	0	0	2.94e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	5619.04	183	chr11	50033596	.	T	G	5619.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=393;ExcessHet=0;FS=3.932;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=30.71;ReadPosRankSum=1.39;SOR=0.9	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	1	0	0
chr11	55368803	55368803	C	T	exonic	OR4A15	.	nonsynonymous SNV	OR4A15:NM_001005275:exon1:c.C920T:p.T307I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0042	0.00279553	0.0010	0.0114	0.0003	0	0.0002	2.998e-05	0	0	0.0009638	149	154602	rs61753622	0.0004	0.0004	0.0004	0.0003	0.0137	0.0003	0.0003	0.0127	0.0123	0.0137	0.0004	0	0	7.489e-05	0	7.198e-06	0.0006	3.479e-05	0.0039	0.0039	0.0044	0.0033	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0009	0	0	0	0	4.412e-05	0.0024	0	0.012	0.54683	D	0.004	0.74150	D	0.868	0.47740	P	0.708	0.54437	P	0.000087	0.51296	D	0.000000	1	0.08975	N	1.275	0.32135	L	1.19	0.37578	T	-5.31	0.84457	D	0.084	0.06059	-1.0105	0.26760	T	0.098	0.36574	T	10	0.009031892	0.00204	T	.	.	.	0.085	0.24743	.	.	0.350088858571	0.34617	0.09026407693733736	0.08959	.	.	0.217132538557	0.01151	T	0.139232	0.47315	T	-0.559457	0.00256	T	-0.564721	0.15936	T	0.0777447052689313	0.09695	T	0.768523	0.39806	T	0.44690305	0.63845	0.37814683	0.62898	0.44690305	0.63846	0.37814683	0.62898	-4.954	0.36336	T	.	.	0.200	0.43088	B	.;.	.;.	2.437991	0.31376	18.72	0.99479119864476873	0.66795	0.02154	0.06332	N	AEFI	0.031094	0.03254	N	-0.194482845817599	0.33364	1.891991	-0.360690148181522	0.26180	1.444383	7.58558696241322E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.65	3.65	0.40985	-0.444000	0.06926	-6.642000	0.01344	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.122000	0.19250	0.0:1.0:0.0:0.0	12.916	0.57601	145	0.94217	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	3472.04	106	chr11	55368803	.	C	T	3472.04	.	AC=2;AF=0.167;AN=12;DP=293;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.76;SOR=1.036	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	5	1	0	0
chr11	55555024	55555024	C	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.C556T:p.L186F	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00497227437289	0.0032	0.00219649	0.0028	0.0005	0.0015	0	0.0003	0.0033	0.0011	0.0056	0.0026649	412	154602	rs141941152	0.0033	0.0033	0.0033	0.0033	0.0068	0.0032	0.0032	0.0064	0.0062	0.0005	0.0021	0.0056	2.52e-05	0.0002	0.0042	0.0034	0.0031	0.0068	0.0023	0.0023	0.0023	0.0024	0.0056	0.0021	0.0021	0.0040	0.0034	0.0008	0	0.0036	0.0061	0	0.0006	0	0.0031	0.0009	0.0056	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.910556	0.36400	D	3.645	0.94141	H	7.58	0.00361	T	-3.88	0.72710	D	0.195	0.21449	-1.1473	0.01108	T	0.004	0.01400	T	9	0.009649396	0.00217	T	0.004972	0.12535	T	0.145	0.38592	.	.	0.49376247819	0.49010	0.08598039010200839	0.08532	.	.	0.198243290186	0.00407	T	.	.	.	-0.365428	0.03832	T	-0.293963	0.45359	T	0.0673597931136631	0.08276	T	0.846115	0.52582	T	0.47709507	0.65724	0.6023043	0.76891	0.47709507	0.65724	0.6023043	0.76892	-9.264	0.69381	D	.	.	0.417	0.60485	A	.;.	.;.	3.613089	0.51089	23.0	0.99898192685848963	0.97048	0.60146	0.31113	D	AEFI	0.175023	0.30218	N	0.51769940833422	0.68135	5.175945	0.30694323378859	0.55947	3.757582	0.0136382903767271	0.12491	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.06	0.46572	-0.265000	0.08671	-1.838000	0.04634	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.670000	0.33251	0.1654:0.8346:0.0:0.0	12.645	0.56089	145	0.94217	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	0.007049	0.000000	0.008152	0.005848	0.000000	0.008621	0.009146	0.015152	0.08333	1364.83	34	chr11	55555024	.	C	T	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.947;DP=356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.034;SOR=0.669	GT:AD:DP:GQ:PL	0/1:107,63:170:99:1375,0,2834	5	0	1	0
chr11	55604252	55604252	A	G	exonic	OR4C11	.	nonsynonymous SNV	OR4C11:NM_001004700:exon1:c.T122C:p.M41T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000373090644452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.401e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.036	0.43393	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.524604	0.11704	N	0.684701	1	0.08975	N	-0.21	0.04010	N	7.47	0.00387	T	-2.48	0.54059	N	0.05	0.02179	-0.9577	0.39608	T	0.001	0.00255	T	10	0.18198794	0.33457	T	3.73E-4	0.00054	T	0.056	0.15993	0.563	0.68364	0.141422826196	0.13715	0.08068672182810592	0.08003	0.0028160100876	0.00241	0.191972911358	0.00262	T	0.008041	0.07400	T	-0.384828	0.02904	T	-0.790555	0.02150	T	0.0395767688751221	0.03613	T	0.510149	0.16261	T	0.11985463	0.28213	0.17084989	0.39225	0.11985463	0.28213	0.17084989	0.39224	-4.15	0.26024	T	.	.	0.095	0.17742	B	.;.	.;.	1.236833	0.16323	12.46	0.40109023771814639	0.02810	0.04968	0.10735	N	AEFI	0.038743	0.05526	N	-1.16530490698315	0.05533	0.2524769	-1.16331001594161	0.06532	0.3147234	1.69292837889302E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.65	0.23015	0.265000	0.18282	0.074000	0.14299	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7272:0.0:0.2728:0.0	6.455	0.21126	153	0.93993	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	.	.	.	.	.	.	.	.	0.1	1114.75	33	chr11	55604252	.	A	G	1114.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.203;DP=243;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.318;SOR=0.941	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1124,0,1250	4	0	1	1
chr11	56275910	56275910	C	A	exonic	OR5T1	.	nonsynonymous SNV	OR5T1:NM_001004745:exon3:c.C272A:p.P91Q	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00602690677601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	0.73220	D	0.953	0.69275	D	0.000599	0.43095	D	0.000000	0.934833	0.37101	D	4.145	0.97549	H	.	.	.	.	.	.	.	.	-0.7776	0.56437	T	0.057	0.24018	T	10	0.84029627	0.83185	D	0.006027	0.15757	T	.	.	0.641	0.77795	.	.	0.5542886815895288	0.55355	.	.	0.259781748056	0.04865	T	0.262681	0.63428	T	0.0617457	0.59831	T	-0.149083	0.59324	T	0.999393343925476	0.97233	D	.	.	.	0.8147435	0.84868	0.76634616	0.86199	0.8147435	0.84869	0.76634616	0.86200	-9.955	0.73642	D	.	.	0.413	0.60852	A	.;.	.;.	3.483865	0.48668	22.7	0.98492011249101852	0.42108	0.98176	0.80261	D	AEFI	0.366358	0.45420	N	0.540290801837385	0.69492	5.36472	0.269186189837531	0.53749	3.54233	0.994847771427742	0.33827	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.59	3.59	0.40253	4.361000	0.59235	.	.	0.501000	0.22741	0.998000	0.41325	0.015000	0.20450	0.037000	0.13953	0.0:1.0:0.0:0.0	14.381	0.66474	190	0.92594	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2039.83	33	chr11	56275910	.	C	A	2039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.566;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.44;SOR=0.659	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1313	5	0	1	0
chr11	56290915	56290915	G	A	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.C148T:p.R50C	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00226515428395	0.0014	0.000399361	0.0026	0.0005	0.0024	0	0.0003	0.0032	0.0033	0.0038	0.0023221	359	154602	rs114085258	0.0023	0.0023	0.0022	0.0024	0.0139	0.0023	0.0022	0.0114	0.0105	0.0004	0.0020	0.0018	2.519e-05	0.0005	0.0139	0.0024	0.0023	0.0037	0.0016	0.0016	0.0014	0.0017	0.0024	0.0014	0.0013	0.0021	0.0020	0.0004	0	0.0021	0.0017	0	0.0004	0.0102	0.0024	0.0024	0.0021	0.131	0.26629	T	0.222	0.26883	T	0.007	0.14184	B	0.005	0.11217	B	0.751571	0.09696	N	0.885812	1	0.08975	N	1.635	0.41844	L	5.36	0.01050	T	-3.77	0.71397	D	0.129	0.12341	-0.9319	0.43859	T	0.003	0.00864	T	10	0.008479685	0.00192	T	0.002265	0.04314	T	0.012	0.01476	.	.	0.323886383625	0.31992	0.121807884539681	0.12107	0.0194599050397	0.01906	0.176154866815	0.00064	T	0.015399	0.12927	T	-0.634558	0.00090	T	-0.685114	0.06676	T	0.0118400986416438	0.00184	T	0.206779	0.02461	T	0.13738309	0.31811	0.11470877	0.27690	0.13738309	0.31811	0.11470877	0.27689	-5.737	0.44022	T	.	.	0.113	0.22969	B	.;.;.	.;.;.	1.607499	0.20547	14.80	0.66336125590452277	0.08029	0.00339	0.01760	N	AEFI	0.022536	0.01138	N	-1.47895737634507	0.01999	0.08781918	-1.5823665782927	0.01763	0.08020581	2.65419837908199E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	-5.67	0.02247	-3.928000	0.00374	.	.	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.6126:0.1046:0.1775:0.1053	4.916	0.13201	187	0.92701	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	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.012228	0.023392	0.000000	0.008621	0.003067	0.003817	0.08333	4067.83	36	chr11	56290915	.	G	A	4067.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=492;ExcessHet=0;FS=0.428;MLEAC=1;MLEAF=0.083;MQ=59.97;MQRankSum=-1.355;QD=13.84;ReadPosRankSum=-1.366;SOR=0.645	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr11	56470374	56470374	C	T	exonic	OR5M3	.	nonsynonymous SNV	OR5M3:NM_001004742:exon1:c.G124A:p.G42S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00550381715403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs983567516	6.843e-06	8.893e-06	4.086e-06	9.629e-06	8.966e-05	3.46e-06	2.52e-06	2.376e-05	1.258e-05	8.966e-05	0	0	0	0	0	3.598e-06	1.656e-05	2.319e-05	6.58e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.059	0.37536	T	0.075	0.42794	T	0.633	0.40250	P	0.264	0.39629	B	0.000706	0.42254	D	0.000000	0.999999	0.08975	N	1.18	0.29980	L	5.38	0.01033	T	-3.43	0.67359	D	0.089	0.06720	-0.8735	0.50264	T	0.004	0.01125	T	10	0.2272135	0.39595	T	0.005504	0.14166	T	0.097	0.27909	0.546	0.66015	0.31077124679	0.30691	0.35819924500028133	0.35733	0.102494100127	0.11603	0.248005956411	0.03561	T	0.011702	0.10405	T	-0.224509	0.17381	T	-0.560268	0.16352	T	0.545226335525513	0.34299	D	0.773423	0.59406	T	0.249922	0.47990	0.3175543	0.57729	0.249922	0.47990	0.3175543	0.57728	-6.882	0.53166	T	.	.	0.147	0.32372	B	.;.;.;.	.;.;.;.	0.950264	0.13263	9.765	0.99188135839720604	0.54906	0.13972	0.18153	N	AEFI	0.101277	0.20345	N	-0.424716121321984	0.24605	1.329767	-0.447504942551813	0.23619	1.289026	1.21535226932743E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	3.34	0.37357	-1.756000	0.01911	.	.	0.416000	0.20752	0.000000	0.06391	0.000000	0.08366	0.097000	0.18139	0.0:0.6707:0.1582:0.1711	5.991	0.18695	245	0.90404	.;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1710.83	37	chr11	56470374	.	C	T	1710.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=325;ExcessHet=0;FS=1.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.494;SOR=0.836	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr11	56490838	56490838	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G533A:p.C178Y	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0435079132396	0.0015	0.000599042	0.0025	0.0006	0.0024	0	0.0003	0.0031	0.0033	0.0036	0.0022962	355	154602	rs138015382	0.0022	0.0022	0.0021	0.0024	0.0134	0.0022	0.0021	0.0110	0.0101	0.0004	0.0020	0.0018	0	0.0004	0.0134	0.0023	0.0022	0.0036	0.0015	0.0015	0.0014	0.0017	0.0023	0.0014	0.0013	0.0020	0.0019	0.0004	0	0.0021	0.0017	0	0.0004	0.0102	0.0023	0.0019	0.0021	0.004	0.65419	D	0.016	0.60972	D	0.186	0.29254	B	0.248	0.38946	B	0.000532	0.43581	D	0.000000	0.999856	0.49910	D	4.11	0.97368	H	0.06	0.61798	T	-10.89	0.99244	D	0.924	0.92784	-0.1214	0.79602	T	0.390	0.74416	T	10	0.17161718	0.31890	T	0.043508	0.61018	D	0.342	0.66392	.	.	0.697589686059	0.69497	0.36235771181923543	0.36149	0.00995304507162	0.00909	0.402249157429	0.25383	T	0.052113	0.29070	T	-0.15179	0.28031	T	0.00803209	0.70855	D	0.155709351559736	0.17549	T	0.873613	0.58243	D	0.7403689	0.80313	0.6827156	0.81350	0.7403689	0.80315	0.6827156	0.81351	-7.141	0.55057	T	.	.	0.351	0.56625	A	.	.	2.841059	0.37485	20.5	0.9889017120642537	0.47984	0.96577	0.69837	D	AEFI	0.654769	0.62733	D	0.315262003062904	0.56930	3.858816	0.336687262439069	0.57711	3.937747	0.998949662240528	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	7.813000	0.84661	.	.	0.544000	0.25403	1.000000	0.71638	0.991000	0.31484	0.139000	0.19909	0.0:1.0:0.0:0.0	14.902	0.70330	259	0.89842	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	0.009606	0.000000	0.012228	0.023392	0.000000	0.000000	0.003106	0.007576	0.08333	2206.83	33	chr11	56490838	.	C	T	2206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.393;DP=359;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.008;QD=12.61;ReadPosRankSum=0.312;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	5	0	1	0
chr11	56543052	56543052	A	G	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.T206C:p.V69A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00259741582465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.062	0.45318	T	0.969	0.56768	D	0.86	0.61233	P	.	.	.	.	0.999909	0.19694	N	2.015	0.55033	M	4.04	0.03121	T	-3.03	0.62747	D	0.178	0.19190	-1.0430	0.16413	T	0.024	0.10058	T	9	0.23797432	0.40909	T	0.002597	0.05263	T	0.089	0.25827	0.351	0.34922	0.515490261806	0.51192	0.09366363581805302	0.09298	0.0261712101541	0.02673	0.362002849579	0.19678	T	0.009592	0.08721	T	-0.194107	0.21658	T	-0.516598	0.20640	T	0.564979732036591	0.35044	D	0.683432	0.29175	T	0.25053856	0.48056	0.3550056	0.61035	0.25053856	0.48056	0.3550056	0.61035	-5.674	0.43461	T	.	.	0.127	0.26978	B	.	.	3.214014	0.43764	21.8	0.99805817985349943	0.88995	0.24797	0.22504	N	AEFI	0.080227	0.16217	N	0.235296446265931	0.52915	3.462984	0.20279008460267	0.50001	3.196877	3.68792220008112E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	1.414000	0.34344	.	.	0.591000	0.32079	0.001000	0.13787	0.306000	0.24247	0.007000	0.07825	1.0:0.0:0.0:0.0	13.984	0.63836	296	0.88164	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1704.83	97	chr11	56543052	.	A	G	1704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.207;DP=396;ExcessHet=0;FS=5.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.136;SOR=1.047	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr11	56543152	56543152	G	C	exonic	OR5M11	.	nonsynonymous SNV	OR5M11:NM_001005245:exon1:c.C106G:p.L36V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0047	0.00259585	0.0012	0.0136	0.0003	0	0	4.496e-05	0.0011	0	0.0010867	168	154602	rs144325910	0.0004	0.0004	0.0005	0.0004	0.0154	0.0004	0.0004	0.0143	0.0138	0.0154	0.0004	0	0	0	0.0007	8.994e-06	0.0009	4.637e-05	0.0044	0.0044	0.0050	0.0038	0.0154	0.0041	0.0040	0.0144	0.0140	0.0154	0	0.0012	0	0	0	0	5.882e-05	0.0038	0	0.163	0.23450	T	0.364	0.16766	T	0.025	0.19245	B	0.019	0.18783	B	.	.	.	.	0.996138	0.23105	N	1.435	0.35949	L	3.49	0.05071	T	-1.42	0.34992	N	0.098	0.07949	-0.9748	0.36170	T	0.013	0.04938	T	9	0.005463153	0.00120	T	.	.	.	0.013	0.01715	.	.	0.346315397577	0.34243	0.03869542253293226	0.03815	0.0272181327849	0.02780	0.227377802134	0.01779	T	0.003251	0.02657	T	-0.689478	0.00042	T	-0.749538	0.03504	T	0.00645799230009756	0.00072	T	0.113289	0.00862	T	0.08939056	0.20885	0.085665606	0.19794	0.08939056	0.20885	0.085665606	0.19793	-4.62	0.32422	T	.	.	0.084	0.09627	B	.	.	0.871558	0.12444	8.978	0.82413021465020297	0.14179	0.09150	0.14963	N	AEFI	0.068166	0.13435	N	-0.736657197324481	0.14997	0.7520112	-0.747178259475586	0.15792	0.8322856	2.49653056423704E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	1.89	0.24700	-2.260000	0.01259	.	.	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0832:0.0:0.5468:0.37	7.758	0.28101	296	0.88164	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	3049.04	98	chr11	56543152	.	G	C	3049.04	.	AC=2;AF=0.167;AN=12;DP=295;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.11;SOR=1.493	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	1	0	0
chr11	56613453	56613453	A	T	exonic	OR5M1	.	nonsynonymous SNV	OR5M1:NM_001004740:exon2:c.T50A:p.L17Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0078	0.0071885	0.0023	0.0265	0.0007	0	0	5.999e-05	0.0011	0	0.0021345	330	154602	rs115296663	0.0008	0.0008	0.0009	0.0007	0.0294	0.0007	0.0007	0.0279	0.0273	0.0294	0.0011	0	0	0	0.0010	1.619e-05	0.0014	4.638e-05	0.0077	0.0078	0.0084	0.0070	0.0269	0.0073	0.0072	0.0256	0.0250	0.0269	0	0.0025	0	0	0	0.0034	7.35e-05	0.0066	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.972	0.72692	D	0.003361	0.35041	N	0.000000	0.882	0.35764	D	4.105	0.97342	H	4.92	0.01404	T	-5.06	0.82764	D	0.738	0.73826	-1.0719	0.09001	T	0.012	0.04558	T	10	0.0071101487	0.00162	T	.	.	.	0.155	0.40530	.	.	0.552739949602	0.54932	0.26074599952137395	0.25988	0.444243628608	0.44339	0.266186505556	0.05650	T	0.034867	0.23493	T	-0.464616	0.00919	T	-0.419215	0.31164	T	0.0850660220412542	0.10621	T	0.963704	0.86510	D	0.67380166	0.76636	0.7085695	0.82813	0.67380166	0.76638	0.7085695	0.82814	-11.612	0.82910	D	.	.	0.560	0.67230	A	.;.	.;.	3.916580	0.57146	23.8	0.99509055084516018	0.68499	0.96178	0.67892	D	AEFGI	0.415157	0.48413	N	0.666512630899393	0.77442	6.675279	0.503150271394248	0.68201	5.187601	0.0523917929373663	0.14905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.71	3.71	0.41733	3.988000	0.56662	.	.	0.333000	0.19617	0.893000	0.31264	0.450000	0.24948	0.152000	0.20376	1.0:0.0:0.0:0.0	11.486	0.49602	306	0.87689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003563	0.000000	0.006849	0.000000	0.000000	0.008772	0.000000	0.000000	0.1667	4255.04	127	chr11	56613453	.	A	T	4255.04	.	AC=2;AF=0.167;AN=12;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.61;QD=33.5;SOR=1.972	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	5	1	0	0
chr11	57310168	57310168	T	C	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.A2543G:p.K848R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00259585	0.0012	0.0130	0.0006	0	0	2.997e-05	0.0011	0	0.0010931	169	154602	rs36049032	0.0004	0.0004	0.0005	0.0003	0.0147	0.0004	0.0004	0.0136	0.0132	0.0147	0.0007	0	0	0	0	7.194e-06	0.0007	3.478e-05	0.0044	0.0044	0.0049	0.0039	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0017	0	0	0	0	4.41e-05	0.0038	0	0.066	0.36113	T	0.302	0.20228	T	0.002	0.09854	B	0.006	0.12133	B	0.577323	0.11177	N	0.761784	0.999939	0.19363	N	0.375	0.12094	N	1.15	0.38236	T	-0.5	0.15782	N	0.133	0.12913	-1.0265	0.21593	T	0.045	0.19316	T	10	0.0041438937	0.00082	T	.	.	.	0.025	0.05312	.	.	0.286465849087	0.28247	0.0574825562995005	0.05689	0.0650178447272	0.07263	0.371645569801	0.21067	T	0.036091	0.23970	T	-0.61119	0.00125	T	-0.637083	0.09883	T	0.00245889338744844	0.00026	T	0.587441	0.21519	T	0.08768064	0.20425	0.054769456	0.09482	0.08768064	0.20425	0.054769456	0.09482	-5.907	0.45495	T	.	.	0.099	0.16582	B	.;.;.	.;.;.	1.210656	0.16035	12.27	0.96682516245933037	0.30704	0.22421	0.21740	N	AEFDBCI	0.057178	0.10630	N	-0.876765042488106	0.11397	0.5497708	-0.895243826198903	0.12206	0.6265201	0.999952542015477	0.48110	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.17	-2.23	0.06539	0.005000	0.13029	0.373000	0.17698	-0.186000	0.09761	0.030000	0.20431	0.409000	0.24749	0.979000	0.57723	0.0:0.3084:0.2657:0.4258	5.388	0.15529	440	0.80101	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	6115.04	184	chr11	57310168	.	T	C	6115.04	.	AC=2;AF=0.167;AN=12;DP=384;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.23;SOR=0.855	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	1	0	0
chr11	57320343	57320343	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon3:c.G464A:p.R155H	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0039	0.00499201	0.0039	0.0008	0.0089	0	0.0005	0.0052	0.0066	0.0006	0.0043272	669	154602	rs143756483	0.0055	0.0055	0.0057	0.0052	0.0095	0.0054	0.0053	0.0087	0.0084	0.0007	0.0095	0.0005	0	0.0004	0.0057	0.0064	0.0051	0.0007	0.0043	0.0043	0.0044	0.0043	0.0097	0.0040	0.0039	0.0084	0.0079	0.0014	0.0022	0.0097	0.0012	0.0002	0.0010	0.0068	0.0059	0.0142	0.0002	0.0	0.91255	D	0.042	0.50226	D	1.0	0.90584	D	0.999	0.92359	D	0.004443	0.33730	N	0.000000	0.619212	0.32690	D	0.895	0.22405	L	0.16	0.60610	T	-2.23	0.50012	N	0.733	0.77789	-0.5144	0.68124	T	0.143	0.46532	T	10	0.009022921	0.00204	T	.	.	.	0.221	0.51721	.	.	0.846546307626	0.84507	0.20284812259349452	0.20201	0.484280987442	0.47343	0.645635604858	0.59365	T	0.092855	0.39091	T	-0.198847	0.20971	T	-0.0510153	0.66953	D	0.0488599579127443	0.05299	T	0.875312	0.58632	D	0.23972932	0.46867	0.20592102	0.44784	0.23972932	0.46867	0.20592102	0.44783	-7.705	0.59042	D	.	.	0.268	0.50185	B	.;.	.;.	5.010629	0.83209	28.0	0.99950285317325982	0.99938	0.91034	0.52731	D	AEFDBI	0.627922	0.61020	D	0.462419241521181	0.64911	4.756657	0.462738237709951	0.65537	4.836587	0.999999934949015	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	4.491000	0.60048	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:1.0:0.0:0.0	14.857	0.69982	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.08333	1013.83	33	chr11	57320343	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.049;DP=226;ExcessHet=0;FS=4.044;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=-0.413;SOR=1.308	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	5	0	1	0
chr11	57426015	57426015	G	A	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon3:c.C158T:p.P53L,SLC43A3:NM_001278206:exon3:c.C158T:p.P53L,SLC43A3:NM_014096:exon3:c.C158T:p.P53L,SLC43A3:NM_017611:exon3:c.C158T:p.P53L,SLC43A3:NM_199329:exon3:c.C158T:p.P53L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0052	0.00339457	0.0013	0.0142	0.0006	0	0	4.507e-05	0.0022	0	0.0012354	191	154602	rs34799622	0.0005	0.0005	0.0006	0.0004	0.0165	0.0004	0.0004	0.0154	0.0149	0.0165	0.0008	0	0	0	0.0009	1.619e-05	0.0010	9.275e-05	0.0048	0.0048	0.0054	0.0042	0.0166	0.0045	0.0044	0.0155	0.0151	0.0166	0	0.0020	0	0	0	0	5.879e-05	0.0057	0	0.73	0.22920	T	0.626	0.24840	T	0.0	0.02946	B	0.0	0.01387	B	0.000631	0.00653	N	3.372100	1	0.08975	N	-1.275	0.00739	N	1.05	0.52642	T	0.78	0.07736	N	0.036	0.01999	-1.0132	0.25912	T	0.027	0.11485	T	10	0.0035474002	0.00064	T	.	.	.	0.060	0.17295	.	.	0.0482279557977	0.04254	0.1953888214398922	0.19455	0.111031550445	0.12528	0.245650500059	0.03323	T	0.006395	0.10748	T	-0.60985	0.00127	T	-0.634504	0.10075	T	0.00677236000485767	0.00076	T	0.605339	0.24427	T	0.020670343	0.00635	0.025885526	0.00650	0.020670343	0.00634	0.025885526	0.00650	-3.814	0.23428	T	.	.	0.059	0.04932	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.378592	0.00376	0.007	0.7824373240786664	0.12217	0.02005	0.06038	N	ALL	0.085264	0.17283	N	-1.97309081753179	0.00241	0.01035084	-2.0220180493842	0.00275	0.0121394	1.0	0.98316	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	5.24	-10.5	0.00234	-3.818000	0.00403	-2.619000	0.03542	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.2272:0.0:0.5204:0.2524	10.834	0.45881	132	0.94697	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.1667	2201.04	70	chr11	57426015	.	G	A	2201.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.33;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=31.44;ReadPosRankSum=-0.6;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1223	5	1	0	0
chr11	57460884	57460884	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon1:c.C19T:p.R7C	.	0	225	1	0	0	1	0.00221729	.	.	.	3909913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.980752407623	.	0.000599042	0.0004	0.0054	0	0	0	0	0	0	7.76e-05	12	154602	rs111949084	0.0001	0.0001	0.0001	8.619e-05	0.0038	9.759e-05	9.221e-05	0.0032	0.0030	0.0038	0.0001	0	0	0	0.0005	1.302e-05	0.0005	4.855e-05	0.0008	0.0008	0.0007	0.0008	0.0026	0.0007	0.0006	0.0022	0.0021	0.0026	0	0.0003	0	0	0	0	1.472e-05	0.0014	0	0.001	0.91255	D	0.177	0.30143	T	0.663	0.40973	P	0.183	0.35961	B	.	.	.	.	0.528845	0.31508	N	1.59	0.40313	L	0.11	0.65563	T	-1.05	0.28906	N	0.134	0.26475	-0.8378	0.52793	T	0.127	0.43380	T	9	0.015383929	0.00323	T	0.980752	0.99899	D	0.161	0.41658	.	.	0.408277909041	0.40440	0.7017304103523145	0.70114	2.23748090164	0.95990	0.873041152954	0.93001	D	0.115435	0.43402	T	-0.314502	0.07358	T	-0.229152	0.51853	T	0.0634614237309183	0.07702	T	0.845515	0.52437	T	0.28011706	0.51060	0.18425809	0.41467	0.28011706	0.51060	0.18425809	0.41466	-4.982	0.36644	T	.	.	0.300	0.55610	B	.;.;.	.;.;.	4.815524	0.78386	26.9	0.99869166775452922	0.94726	0.63815	0.32207	D	AEFDGBCI	0.116451	0.22854	N	-0.265709476208274	0.30480	1.700016	-0.238135842669714	0.30183	1.697189	0.99999995431284	0.74766	0.72623	0.87236	0	0.606814	0.50340	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.95	3.01	0.33872	1.634000	0.36736	2.088000	0.30532	0.452000	0.21348	0.941000	0.32681	1.000000	0.68203	0.937000	0.47636	0.2446:0.7554:0.0:0.0	8.644	0.33158	71	0.96981	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	91.84	20	chr11	57460884	.	C	T	91.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=66;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.144;SOR=0.223	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,226	5	0	1	0
chr11	57660880	57660880	C	T	exonic	CLP1	.	nonsynonymous SNV	CLP1:NM_001142597:exon3:c.C530T:p.A177V,CLP1:NM_006831:exon3:c.C722T:p.A241V	Pontocerebellar hypoplasia, type 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3829166	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00694834014397	.	.	5.766e-05	0	0	0	0	1.499e-05	0	0.0004	5.17e-05	8	154602	rs543506228	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	1.314e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.52	0.07259	T	0.502	0.11115	T	0.346	0.38545	B	0.222	0.39216	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	1.03	0.44856	T	-0.59	0.19297	N	0.765	0.78927	-1.0928	0.05082	T	0.087	0.33746	T	10	0.4670347	0.59633	T	0.006948	0.18402	T	0.240	0.54500	0.452	0.51448	0.653576734956	0.65069	0.5675665064535337	0.56684	0.639123629112	0.57594	0.810149729252	0.83515	D	0.008674	0.28044	T	-0.0821367	0.39368	T	-0.0554363	0.66649	D	0.199367237232446	0.20381	T	0.957071	0.86318	D	0.22324893	0.44942	0.3664387	0.61973	0.27066767	0.50138	0.31167674	0.57172	-7.492	0.65517	T	0.20585023698622448	0.27473	0.509	0.73297	A	.;.;.;.	.;.;.;.	3.205239	0.43602	21.8	0.98573877800365939	0.43141	0.99748	0.99172	D	AEFBI	0.845336	0.76226	D	0.229163131362397	0.52616	3.434753	0.410668007491799	0.62227	4.434813	0.999999999999352	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	7.713000	0.83653	7.636000	0.62963	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.857	0.96760	220	0.91454	Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain;Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain;Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop 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	.	.	.	.	.	.	.	.	0.08333	1661.83	33	chr11	57660880	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.362;DP=277;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-1.027;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1071	5	0	1	0
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031282	0.030303	0.027174	0.026316	0.050000	0.034483	0.049383	0.030303	0.08333	547.83	33	chr11	57741941	.	C	T	547.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.085;DP=198;ExcessHet=0;FS=2.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.318;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1032:.	5	0	1	0
chr11	58118518	58118518	C	G	exonic	OR9I1	.	nonsynonymous SNV	OR9I1:NM_001005211:exon1:c.G927C:p.Q309H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0017464591403	0.0015	0.00199681	0.0023	0.0007	0.0006	0	0.0003	0.0025	0.0023	0.0064	0.0021216	328	154602	rs78218902	0.0027	0.0027	0.0026	0.0027	0.0051	0.0026	0.0026	0.0047	0.0045	0.0005	0.0012	3.924e-05	0	0.0005	0.0005	0.0029	0.0021	0.0051	0.0017	0.0017	0.0017	0.0018	0.0066	0.0016	0.0015	0.0048	0.0042	0.0004	0.0011	0.0014	0	0	0.0008	0	0.0027	0.0005	0.0066	0.032	0.44694	D	0.052	0.47581	T	0.003	0.11197	B	0.002	0.06944	B	0.244438	0.15642	N	0.529823	0.999998	0.08975	N	0.12	0.08593	N	7.81	0.00336	T	-0.75	0.21003	N	0.306	0.34552	-0.9602	0.39143	T	0.001	0.00188	T	10	0.0051858723	0.00113	T	0.001746	0.02934	T	0.021	0.04004	0.323	0.30387	0.043077524339	0.03247	0.11375534099243384	0.11303	0.01488363945	0.01414	0.251041471958	0.03878	T	0.009635	0.08763	T	-0.607642	0.00131	T	-0.645346	0.09283	T	0.00447250848855902	0.00048	T	0.178282	0.01754	T	0.059110884	0.11976	0.06251627	0.12243	0.059110884	0.11975	0.06251627	0.12242	-3.846	0.21493	T	.	.	0.110	0.22609	B	.;.;.	.;.;.	0.478189	0.08477	5.237	0.96061645574548626	0.28593	0.05746	0.11674	N	AEFBI	0.069210	0.13687	N	-0.8836841713395	0.11230	0.5408413	-0.850386526472921	0.13279	0.6879384	5.04543286494343E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.9	0.32809	0.106000	0.15191	-0.542000	0.08577	0.549000	0.26987	0.020000	0.19661	0.000000	0.08366	0.078000	0.17132	0.0:0.669:0.2325:0.0985	6.637	0.22081	397	0.82902	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1059.83	36	chr11	58118518	.	C	G	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.734;DP=249;ExcessHet=0;FS=2.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.051;SOR=0.453	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1224	5	0	1	0
chr11	58203379	58203379	G	A	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.C803T:p.T268I	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000628804669975	.	0.00219649	0.0007	0.0022	0.0003	0.0039	0	0.0002	0	0.0004	0.000608	94	154602	rs78572631	0.0005	0.0006	0.0005	0.0005	0.0122	0.0005	0.0005	0.0113	0.0110	0.0022	0.0002	0.0021	0.0122	0	0.0019	6.836e-05	0.0005	0.0003	0.0012	0.0012	0.0011	0.0013	0.0047	0.0010	0.0010	0.0032	0.0028	0.0027	0	0.0003	0.0040	0.0047	0	0.0102	0.0002	0.0005	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004565	0.33608	N	0.133460	1	0.08975	N	-0.88	0.01436	N	8.85	0.00035	T	3.14	0.00122	N	0.067	0.03956	-0.9946	0.31405	T	0.000	0.00039	T	10	0.0044060946	0.00090	T	6.29E-4	0.00319	T	0.025	0.05312	.	.	0.139678290688	0.13603	0.04838762806958768	0.04781	0.00478119465073	0.00421	.	.	.	0.001479	0.00934	T	-0.670046	0.00055	T	-0.738302	0.03963	T	0.00132782427795191	0.00013	T	0.125887	0.00981	T	0.034222506	0.03798	0.050253224	0.07850	0.034222506	0.03797	0.050253224	0.07850	-2.266	0.04373	T	.	.	0.071	0.03849	B	.;.	.;.	0.173094	0.05618	2.070	0.050315689315548313	0.00007	0.00544	0.02501	N	AEFGI	0.021395	0.00948	N	-1.40768060960402	0.02570	0.114	-1.26643677829374	0.04892	0.2318583	1.67829090635976E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	2.4	0.28568	0.094000	0.14946	1.158000	0.24531	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.8239:0.0:0.1761:0.0	7.508	0.26725	360	0.84920	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	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2083.83	37	chr11	58203379	.	G	A	2083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.695;DP=340;ExcessHet=0;FS=1.24;MLEAC=1;MLEAF=0.083;MQ=57.26;MQRankSum=-5.546;QD=13.19;ReadPosRankSum=-0.311;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	5	0	1	0
chr11	58203454	58203454	G	A	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.C728T:p.S243F	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00228935207681	0.0015	0.000998403	0.0014	0.0007	8.715e-05	0	0.0003	0.0023	0	0.0002	0.0014618	226	154602	rs150759965	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0003	0.0004	3.826e-05	0	0.0003	0.0007	0.0033	0.0022	0.0002	0.0013	0.0013	0.0016	0.0011	0.0022	0.0012	0.0011	0.0019	0.0018	0.0007	0	0.0010	0	0	0.0004	0	0.0022	0.0019	0	0.0	0.91255	D	0.003	0.76473	D	0.994	0.66517	D	0.975	0.73362	D	0.043912	0.23692	N	0.304308	1	0.08975	N	3.435	0.92070	M	8.04	0.00313	T	-5.85	0.88495	D	0.293	0.33140	-1.0636	0.10878	T	0.003	0.01059	T	10	0.009837478	0.00221	T	0.002289	0.04397	T	0.064	0.18567	.	.	0.551220473365	0.54778	0.08712565818314942	0.08645	0.0208532295275	0.02063	.	.	.	0.026217	0.19446	T	-0.453544	0.01076	T	-0.426051	0.30385	T	0.112984814801264	0.13730	T	0.763824	0.39073	T	0.7702838	0.82065	0.8311787	0.90261	0.7702838	0.82067	0.8311787	0.90262	-8.595	0.65056	D	.	.	0.182	0.39613	B	.;.	.;.	2.866015	0.37883	20.6	0.99682572365147382	0.79373	0.08400	0.14334	N	AEFGI	0.046031	0.07597	N	0.270090364975258	0.54638	3.629011	0.00421630426395582	0.39909	2.373584	5.04111399564214E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	3.82	0.43153	0.941000	0.28602	3.229000	0.36897	0.676000	0.76740	0.001000	0.13787	0.777000	0.26748	0.053000	0.15439	0.0:0.1516:0.8484:0.0	14.118	0.64702	360	0.84920	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	3384.83	37	chr11	58203454	.	G	A	3384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.558;DP=523;ExcessHet=0;FS=0.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.301;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	5	0	1	0
chr11	59578311	59578311	T	C	exonic	OSBP	.	nonsynonymous SNV	OSBP:NM_002556:exon12:c.A1898G:p.D633G	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.0580433243498	.	.	5.786e-05	9.612e-05	0	0	0	7.51e-05	0	6.152e-05	5.82e-05	9	154602	rs763784991	5.336e-05	5.336e-05	5.445e-05	5.225e-05	0.0003	4.344e-05	4.017e-05	0.0001	9.193e-05	2.987e-05	0.0002	0	0	0	0.0003	4.586e-05	0.0002	3.478e-05	7.882e-05	7.879e-05	5.137e-05	0.0001	0.0003	4.495e-05	3.511e-05	8.877e-05	5.386e-05	4.823e-05	0	0.0003	0	0	0	0	7.348e-05	0	0.0002	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	1.3	0.35590	T	-5.84	0.88431	D	0.929	0.93370	-0.4303	0.71057	T	0.273	0.64453	T	10	0.9194267	0.91298	D	0.058043	0.67180	D	0.639	0.86232	.	.	0.471862085557	0.46814	0.9624422852502884	0.96230	2.24847628594	0.96075	0.626802563667	0.56692	T	0.35752	0.72421	T	0.0412687	0.57211	T	0.0581717	0.74123	D	0.867699563503265	0.51770	D	0.979302	0.92791	D	0.7330276	0.79895	0.71565396	0.83218	0.7330276	0.79897	0.71565396	0.83219	-9.58	0.71356	D	.	.	0.440	0.61710	A	.	.	5.027686	0.83596	28.1	0.99847408967844953	0.92750	0.99278	0.93852	D	AEFBI	0.902443	0.85034	D	0.878772525147622	0.90680	10.51588	0.835374928801588	0.92132	11.25438	0.999999658839545	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.804000	0.84553	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.177	0.72607	424	0.81215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4137.06	35	chr11	59578311	.	T	C	4137.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=458;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.404;SOR=0.696	GT:AD:DP:GQ:PL	0/1:70,80:150:99:2064,0,1825	4	0	2	0
chr11	59639340	59639340	T	A	exonic	PATL1	.	nonsynonymous SNV	PATL1:NM_152716:exon17:c.A2093T:p.D698V	.	440	1081	1	0	0	1	0.000462321	.	.	.	3466679	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0203975013669	.	.	4.723e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754969221	3.361e-05	3.352e-05	3.245e-05	3.479e-05	0.0006	2.59e-05	2.321e-05	0.0002	8.981e-05	0	0	0	0	0	0.0006	3.522e-05	8.632e-05	1.263e-05	3.943e-05	3.94e-05	3.855e-05	4.035e-05	8.82e-05	1.716e-05	1.13e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.197	0.20607	T	0.063	0.45110	T	0.393	0.34680	B	0.141	0.33616	B	0.000056	0.53742	D	0.195541	1	0.81001	D	1.1	0.28011	L	1.02	0.40749	T	-1.66	0.39692	N	0.438	0.47672	-1.0708	0.09238	T	0.076	0.30584	T	10	0.21574384	0.38135	T	0.020398	0.42987	T	0.070	0.20419	.	.	0.0675242888579	0.06100	0.3334326729856068	0.33256	0.470588042752	0.46329	0.372203111649	0.21148	T	0.025527	0.19070	T	-0.212528	0.19025	T	-0.348087	0.39423	T	0.143036134227483	0.16533	T	0.927007	0.73102	D	0.41865522	0.62002	0.4056217	0.64957	0.41865522	0.62002	0.4056217	0.64957	-4.517	0.31110	T	.	.	0.122	0.25592	B	.	.	3.841889	0.55601	23.6	0.98178104998127036	0.38925	0.98730	0.86119	D	AEFBI	0.628116	0.61032	D	0.0241428832087368	0.42955	2.597998	0.201777530050978	0.49947	3.191932	0.998011162107758	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.677000	0.46558	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.591	0.76270	754	0.51307	mRNA decay factor PAT1 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	.	.	.	.	.	.	.	.	0.08333	340.83	40	chr11	59639340	.	T	A	340.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.735;DP=206;ExcessHet=0;FS=3.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.684;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	5	0	1	0
chr11	60201640	60201640	G	A	exonic	MS4A4E	.	nonsynonymous SNV	MS4A4E:NM_001351235:exon6:c.C518T:p.P173L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	.	0.00758786	0.0022	0.0308	0	0	.	0.0026	0	0	0.0006339	98	154602	rs186135156	0.0042	0.0023	0.0047	0.0039	0.0187	0.0039	0.0038	0.0137	0.0120	0.0187	0.0024	0.0003	0	0.0010	0	0.0065	0.0041	0.0003	0.0096	0.0096	0.0105	0.0087	0.0215	0.0092	0.0091	0.0204	0.0199	0.0215	0	0.0047	0	0	0.0006	0	0.0070	0.0076	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	.	.	.	.	.	.	.	.	0.25	37.98	2	chr11	60201640	.	G	A	37.98	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.99;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	2
chr11	60201755	60201755	C	T	exonic	MS4A4E	.	nonsynonymous SNV	MS4A4E:NM_001351235:exon6:c.G403A:p.G135S	.	624	872	24	2	0	28	0.0158014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00449144199476	.	.	0	0	.	0	.	0	0	0	3.84e-05	1	26028	rs747864082	0.0008	0.0012	0.0005	0.0010	0.0011	0.0006	0.0006	0.0008	0.0007	0	0.0006	0.0011	0	0	0	0.0011	0.0012	0.0003	0.0001	0.0002	0.0001	0.0002	0.0002	8.678e-05	7.267e-05	7.882e-05	5.581e-05	0.0002	0	0	0.0003	0	0.0004	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.27	3	chr11	60201755	.	C	T	36.27	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=31;QD=18.13;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr11	61487042	61487042	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon9:c.G869A:p.R290Q,PPP1R32:NM_145017:exon10:c.G929A:p.R310Q	.	418	1092	12	0	0	12	0.00546448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0034	0.0115815	0.0047	0.0093	0.0020	0.0046	0	0.0009	0.0055	0.0208	0.0044695	691	154602	rs116129637	0.0024	0.0024	0.0019	0.0029	0.0203	0.0023	0.0023	0.0195	0.0192	0.0101	0.0019	0.0002	0.0025	1.872e-05	0.0109	0.0008	0.0045	0.0203	0.0038	0.0038	0.0031	0.0045	0.0274	0.0035	0.0034	0.0236	0.0222	0.0082	0	0.0016	0	0.0041	0	0.0034	0.0008	0.0024	0.0274	0.16	0.32141	T	0.229	0.52389	T	1.0	0.90584	D	0.947	0.68407	D	0.007634	0.31286	N	0.214708	0.917462	0.27371	N	2.585	0.75554	M	0.82	0.48142	T	-2.3	0.58733	N	0.273	0.30914	-0.8856	0.49307	T	0.159	0.49262	T	10	0.0068198144	0.00155	T	.	.	.	0.101	0.28911	.	.	0.654521474474	0.65164	0.32949659460220065	0.32862	0.226280632967	0.25184	0.350288510323	0.17963	T	0.014635	0.12421	T	-0.529328	0.00387	T	-0.517524	0.20546	T	0.027860775352958	0.01668	T	0.860614	0.56831	D	0.08371939	0.19346	0.09112916	0.21408	0.08371939	0.19346	0.09112916	0.21407	-4.55	0.31538	T	.	.	0.099	0.17742	B	.;.;.;.	.;.;.;.	2.892894	0.38319	20.7	0.9989702944340898	0.96971	0.72623	0.35540	D	AEFDGBI	0.111904	0.22138	N	0.243717286688735	0.53329	3.50225	0.150087799238917	0.47147	2.949307	0.999742528050604	0.42466	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.567892	0.33627	0	.	.	4.69	2.79	0.31792	1.741000	0.37862	0.989000	0.23179	0.654000	0.53741	1.000000	0.71638	0.711000	0.26292	0.710000	0.34452	0.1809:0.0:0.8191:0.0	8.944	0.34905	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.015152	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.1667	4223.04	35	chr11	61487042	.	G	A	4223.04	.	AC=2;AF=0.167;AN=12;DP=315;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.48;SOR=1.353	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	1	0	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,17:79:14:0|1:61740527_G_C:14,0,1712:61740527	1	0	5	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,35:89:99:0|1:61740527_G_C:577,0,995:61740527	0	0	6	0
chr11	62523343	62523343	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T11074C:p.S3692P,AHNAK:NM_001346446:exon5:c.T11074C:p.S3692P,AHNAK:NM_001620:exon5:c.T11074C:p.S3692P	.	421	1100	1	0	0	1	0.000454339	.	.	.	3961296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0164100229253	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757953310	8.898e-06	8.893e-06	4.086e-06	1.376e-05	0.0003	4.97e-06	3.83e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	7.196e-06	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.58089	D	0.979	0.59044	D	0.839	0.60107	P	0.906810	0.08581	N	0.940197	1	0.08975	N	2.83	0.82355	M	4.56	0.01933	T	-2.51	0.54546	D	0.374	0.41557	-1.0280	0.21103	T	0.030	0.12892	T	10	0.27191812	0.44732	T	0.01641	0.37653	T	0.185	0.45933	0.134	0.03833	0.373897652646	0.36997	0.013129249173180205	0.01270	0.211705828522	0.23670	0.348933517933	0.17766	T	0.276943	0.64954	T	-0.103618	0.35826	T	-0.386617	0.34949	T	0.461362903906816	0.31215	T	0.667533	0.27667	T	0.2771566	0.50774	0.29142228	0.55167	0.2771566	0.50774	0.29142228	0.55166	-10.788	0.78482	D	.	.	0.304	0.53293	B	.	.	1.742658	0.22170	15.51	0.94360529945793536	0.24717	0.76688	0.37632	D	AEFBI	.	.	.	-7.52462584216462e-05	0.41853	2.510837	-0.219452678172296	0.30838	1.739877	0.328903048248652	0.19464	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.32	2.89	0.32713	1.395000	0.34129	.	.	0.677000	0.82338	0.885000	0.31090	0.000000	0.08366	0.123000	0.19290	0.5825:0.2821:0.0:0.1354	7.366	0.25948	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3843.04	33	chr11	62523343	.	A	G	3843.04	.	AC=2;AF=0.167;AN=12;DP=300;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.71;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	5	1	0	0
chr11	62678051	62678051	G	A	exonic	UBXN1	.	nonsynonymous SNV	UBXN1:NM_001286078:exon3:c.C181T:p.R61W,UBXN1:NM_001286077:exon5:c.C358T:p.R120W,UBXN1:NM_015853:exon5:c.C358T:p.R120W	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	7.7e-05	0.00279553	0.0012	0	0	0.0150	0	0.0001	0	0.0005	0.0010479	162	154602	rs117555780	0.0004	0.0004	0.0004	0.0004	0.0117	0.0004	0.0004	0.0109	0.0105	0	0	0	0.0117	0	0.0003	3.597e-05	0.0002	0.0005	0.0006	0.0006	0.0005	0.0007	0.0156	0.0005	0.0005	0.0129	0.0119	0	0	6.554e-05	0	0.0156	0	0	7.351e-05	0	0.0006	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.052299	0.999633	0.47961	D	3.07	0.87108	M	1.69	0.27032	T	-5.22	0.85027	D	0.634	0.64733	-0.9060	0.47332	T	0.086	0.33522	T	10	0.008662492	0.00196	T	.	.	.	0.271	0.58633	.	.	0.279809986126	0.27602	0.35753564639156343	0.35667	2.00016760847	0.93824	0.79307025671	0.80910	T	0.404526	0.76096	T	-0.279707	0.10698	T	-0.156303	0.58682	T	0.128321572366758	0.15226	T	0.973003	0.92760	D	0.70982635	0.78598	0.65843105	0.79994	0.70982635	0.78599	0.65843105	0.79995	-9.934	0.73516	D	.	.	0.387	0.65519	A	.;.;.;.;.	.;.;.;.;.	5.091136	0.85017	28.5	0.99913687808108997	0.98238	0.75491	0.36964	D	AEFDBCI	.	.	.	0.534633128316703	0.69154	5.31667	0.475574628489934	0.66374	4.943943	0.999994852790271	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.1	4.17	0.48303	1.558000	0.35917	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.839:0.161	13.211	0.59248	405	0.82444	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4021.06	40	chr11	62678051	.	G	A	4021.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=453;ExcessHet=0.4139;FS=1.976;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.5;SOR=0.577	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1825,0,1572	4	0	2	0
chr11	62910311	62910311	G	A	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.C790T:p.R264W	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0152911730628	.	.	0.0001	0	0	0.0001	0	0.0001	0	0.0002	9.06e-05	14	154602	rs781487671	5.346e-05	5.336e-05	4.228e-05	6.474e-05	0.0005	4.352e-05	4.025e-05	0.0001	0.0001	0.0001	0	0	2.519e-05	0	0.0005	4.497e-05	1.657e-05	0.0002	3.945e-05	3.94e-05	5.141e-05	2.693e-05	0.0002	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.83e-05	0	0	0	0	0	0	4.412e-05	0	0.0002	0.029	0.46513	D	0.036	0.52060	D	0.001	0.07471	B	0.0	0.01387	B	0.136479	0.18446	N	0.429938	0.98072	0.25091	N	1.775	0.45938	L	0.21	0.60361	T	-0.73	0.20576	N	0.132	0.12770	-0.9526	0.40520	T	0.131	0.44268	T	10	0.10382229	0.19108	T	0.015291	0.35936	T	0.056	0.15993	.	.	0.457822240193	0.45404	0.7070118361765791	0.70643	0.912470087647	0.71115	0.853696346283	0.90171	D	0.468362	0.80232	T	-0.335856	0.05680	T	-0.440776	0.28721	T	0.0294728133780554	0.01909	T	0.80302	0.45008	T	0.063606076	0.13410	0.042263392	0.04993	0.063606076	0.13409	0.042263392	0.04993	-5.099	0.38274	T	.	.	0.166	0.36928	B	.;.	.;.	2.254424	0.28799	17.92	0.96884140168052102	0.31473	0.16282	0.19316	N	AEFDGBI	0.208716	0.33477	N	-0.676021912614472	0.16707	0.8535114	-0.630490998545798	0.18712	1.000785	0.999999077001978	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.72	0.212	0.14516	-0.003000	0.12836	.	.	-0.126000	0.13398	0.000000	0.06391	1.000000	0.68203	0.958000	0.51230	0.0914:0.0:0.4721:0.4365	6.667	0.22235	804	0.43891	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	.	.	.	.	.	.	.	.	0.1667	2024.06	33	chr11	62910311	.	G	A	2024.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.41;DP=303;ExcessHet=0.4139;FS=3.24;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.308;SOR=0.45	GT:AD:DP:GQ:PL	0/1:34,32:66:99:877,0,861	4	0	2	0
chr11	62910463	62910463	C	T	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.G638A:p.R213Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	3297258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00667285145544	7.7e-05	.	6.61e-05	0	0.0003	0	0	4.513e-05	0	0.0001	7.12e-05	11	154602	rs146879247	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	2.987e-05	0.0002	0	5.038e-05	0	0	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.717e-05	0.0001	0.0001	0.0001	0	0.0001	0	0	0	0	0.0002	0	0	0.087	0.32453	T	0.174	0.30045	T	0.676	0.41315	P	0.19	0.36341	B	0.011645	0.29451	N	0.217585	0.828609	0.28789	N	-0.44	0.02835	N	1.08	0.39401	T	-1.34	0.33401	N	0.134	0.13055	-1.0527	0.13655	T	0.069	0.28180	T	10	0.12196398	0.23130	T	0.006673	0.17614	T	0.060	0.17295	.	.	0.532773998898	0.52926	0.9180257139916437	0.91778	1.21482918538	0.80924	0.58466899395	0.50743	T	0.37551	0.73909	T	-0.404911	0.02149	T	-0.513427	0.20964	T	0.0737778022885323	0.09172	T	0.933007	0.74900	D	0.13176501	0.30703	0.089397445	0.20903	0.13176501	0.30703	0.089397445	0.20902	-3.32	0.14444	T	.	.	0.120	0.24666	B	.;.	.;.	3.063455	0.41146	21.3	0.99783092101171511	0.86955	0.09277	0.15065	N	AEFDBI	0.208712	0.33477	N	-0.277096024228201	0.30034	1.671027	-0.247407290297463	0.29861	1.676449	0.999991000291204	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.48	3.57	0.40014	0.191000	0.16883	.	.	0.596000	0.33519	0.014000	0.18986	1.000000	0.68203	0.997000	0.79791	0.0:0.8991:0.0:0.1009	9.799	0.39921	804	0.43891	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	500.83	33	chr11	62910463	.	C	T	500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=253;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.038;SOR=0.456	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr11	63839542	63839542	C	G	exonic	MARK2	.	nonsynonymous SNV	MARK2:NM_001039469:exon1:c.C36G:p.N12K,MARK2:NM_001163296:exon1:c.C36G:p.N12K,MARK2:NM_001163297:exon1:c.C36G:p.N12K,MARK2:NM_004954:exon1:c.C36G:p.N12K	.	420	1100	1	1	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.461452294186	.	0.000599042	0.0008	0	0	0	0	0	0	0.0019	0.0001617	25	154602	rs529371529	8.226e-05	8.551e-05	3.846e-05	0.0001	0.0014	6.961e-05	6.478e-05	0.0012	0.0011	0	0	0	0	0	0.0004	2.796e-06	1.737e-05	0.0014	6.578e-05	6.562e-05	5.147e-05	8.074e-05	0.0019	3.52e-05	2.619e-05	0.0010	0.0007	0	0	0	0	0	0	0.0034	0	0	0.0019	0.002	0.72154	D	0.257	0.24406	T	0.286	0.35858	B	0.166	0.41496	B	0.760047	0.09630	U	0.823295	1	0.81001	D	0	0.06538	N	-0.52	0.70717	T	-2.42	0.62747	N	0.233	0.28498	-0.5613	0.66354	T	0.342	0.70794	T	10	0.023682594	0.00627	T	0.461452	0.94520	D	0.206	0.49396	0.293	0.25560	0.71097898834	0.70845	0.40381041218551467	0.40297	1.64019717428	0.89359	0.8857421875	0.94719	D	0.673312	0.90328	D	-0.413749	0.01878	T	-0.407631	0.32499	T	0.17080195497718	0.18634	T	0.978702	0.92553	D	0.34565607	0.56726	0.30236587	0.56269	0.34565607	0.56727	0.30236587	0.56268	-2.777	0.08416	T	.	.	0.456	0.62523	A	.;.;.;.;.	.;.;.;.;.	4.321986	0.66157	24.9	0.97996967733954765	0.37446	0.43157	0.27036	N	AEFDGBHCI	0.387173	0.46726	N	-0.187548935204105	0.33651	1.91165	-0.220096023934008	0.30815	1.738397	0.999999845723428	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.627883	0.49187	0	.	.	3.56	1.6	0.22686	2.665000	0.46456	2.574000	0.33380	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.7147:0.1791:0.1062	6.758	0.22713	706	0.57215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	939.04	31	chr11	63839542	.	C	G	939.04	.	AC=2;AF=0.167;AN=12;DP=200;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.29;SOR=1.214	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	5	1	0	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.005051	0.010870	0.014620	0.100000	0.000000	0.030488	0.037879	0.08333	421.83	45	chr11	64344322	.	G	A	421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.321;DP=227;ExcessHet=0;FS=2.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.034;SOR=0.317	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	5	0	1	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018274	0.005208	0.010870	0.008772	0.100000	0.000000	0.037037	0.038168	0.08333	849.83	34	chr11	64352209	.	C	T	849.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.95;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.172;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1420	5	0	1	0
chr11	64898329	64898329	T	C	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon33:c.A4681G:p.T1561A,ATG2A:NM_001367972:exon33:c.A4687G:p.T1563A,ATG2A:NM_015104:exon33:c.A4705G:p.T1569A	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00562109093714	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001294	20	154602	rs553911523	0.0001	0.0001	9.693e-05	0.0001	0.0008	0.0001	9.728e-05	0.0003	0.0002	3.012e-05	0.0001	3.86e-05	0	0	0.0008	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	9.407e-05	0.0006	7.091e-05	5.748e-05	0.0002	9.003e-05	2.408e-05	0	0	0	0	0	0.0034	0.0002	0	0.0006	0.354	0.12148	T	0.23	0.25135	T	0.0	0.02946	B	0.001	0.04355	B	0.059309	0.22334	N	0.468991	0.997261	0.22728	N	0.625	0.15840	N	3.35	0.05989	T	-0.57	0.17210	N	0.174	0.18649	-1.0023	0.29255	T	0.040	0.17149	T	10	0.022924393	0.00585	T	0.005621	0.14530	T	0.023	0.04649	.	.	0.196089822672	0.19227	0.11987978823343876	0.11914	0.482782264221	0.47234	0.351881146431	0.18198	T	0.011597	0.10324	T	-0.463391	0.00936	T	-0.623971	0.10876	T	0.0120584489418034	0.00191	T	0.707729	0.31835	T	0.028561374	0.02212	0.027126288	0.00844	0.028561374	0.02211	0.027126288	0.00844	-1.276	0.01363	T	.	.	0.057	0.00543	B	.	.	0.908018	0.12825	9.337	0.80537833516362545	0.13250	0.19330	0.20618	N	AEFGBI	0.074289	0.14886	N	-0.76575677905647	0.14209	0.705954	-0.882123898142891	0.12517	0.6443464	0.997535643897398	0.35727	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.38	-2.18	0.06643	0.231000	0.17651	-0.010000	0.13073	0.665000	0.62972	0.024000	0.20007	0.004000	0.18990	0.932000	0.46971	0.1685:0.4727:0.0:0.3588	5.035	0.13770	265	0.89590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	2084.04	38	chr11	64898329	.	T	C	2084.04	.	AC=2;AF=0.167;AN=12;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	5	1	0	0
chr11	64925843	64925843	C	T	exonic	PPP2R5B	.	nonsynonymous SNV	PPP2R5B:NM_006244:exon2:c.C109T:p.R37C	.	424	1096	2	0	0	2	0.000911577	.	.	.	2246882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0131439535755	.	.	3.822e-05	0	0	0	0	1.751e-05	0	0.0002	2.59e-05	4	154602	rs753530198	1.508e-05	1.505e-05	6.821e-06	2.343e-05	0.0004	9.87e-06	8.43e-06	7.344e-05	4.764e-05	0	0	0	2.52e-05	1.919e-05	0.0004	6.297e-06	1.662e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.158	0.48080	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	.	.	.	-2.19	0.49352	N	0.617	0.63289	-0.7698	0.56868	T	0.202	0.55877	T	9	0.2400623	0.41158	T	0.013144	0.32307	T	0.123	0.34020	0.274	0.22528	0.311241185304	0.30733	0.510910253534935	0.51013	0.35579911258	0.37335	0.85163640976	0.89861	D	0.109079	0.42264	T	-0.124017	0.32469	T	-0.212319	0.53473	T	0.67556220293045	0.39587	D	0.948305	0.80045	D	0.2170432	0.44178	0.11860933	0.28631	0.2170432	0.44178	0.11860933	0.28630	-6.68	0.51660	T	.	.	0.656	0.71168	P	.;.	.;.	5.604958	0.92489	32	0.99927038449586003	0.99163	0.95774	0.66097	D	AEFDBI	0.443794	0.50095	N	0.441771836724016	0.63737	4.613362	0.420793022916359	0.62860	4.50903	0.999999991147982	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.603688	0.36954	0	0.56751	0.32155	0	.	.	4.27	3.33	0.37245	2.937000	0.48672	5.856000	0.50385	0.596000	0.33519	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.892:0.0:0.108	9.484	0.38082	319	0.87030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2267.04	34	chr11	64925843	.	C	T	2267.04	.	AC=2;AF=0.167;AN=12;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.83;SOR=0.92	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	5	1	0	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2868.04	86	chr11	65172786	.	C	T	2868.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.35;SOR=0.74	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1358	5	1	0	0
chr11	65537979	65537979	G	A	exonic	SCYL1	.	nonsynonymous SNV	SCYL1:NM_001048218:exon16:c.G1993A:p.D665N,SCYL1:NM_020680:exon16:c.G2044A:p.D682N	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive	426	1076	18	2	0	22	0.0101196	.	.	.	724599	SCYL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.040	0.00966244421481	0.0012	0.000399361	0.0013	0.0004	0.0015	0	0	0.0019	0.0016	0.0005	0.000925	143	154602	rs199946104	0.0011	0.0011	0.0010	0.0011	0.0206	0.0010	0.0010	0.0176	0.0165	0.0009	0.0008	0.0111	0	5.635e-05	0.0206	0.0008	0.0025	0.0004	0.0009	0.0009	0.0011	0.0008	0.0009	0.0008	0.0008	0.0007	0.0006	0.0004	0	0.0009	0.0121	0	0	0.0136	0.0009	0.0043	0.0002	0.733	0.08813	T	0.592	0.09795	T	0.186	0.29254	B	0.006	0.16862	B	0.544722	0.05334	N	1.301530	1	0.08975	N	.	.	.	2.33	0.31731	T	0.87	0.04613	N	0.178	0.24758	-1.0390	0.17617	T	0.038	0.16548	T	10	0.004027277	0.00078	T	0.009662	0.25245	T	0.040	0.10527	.	.	0.0551355673512	0.04727	0.15940107347417007	0.15861	0.363482546623	0.37975	0.278186440468	0.07240	T	0.037192	0.24383	T	-0.651841	0.00071	T	-0.759542	0.03129	T	0.00163861668264738	0.00017	T	0.780122	0.41972	T	0.032872062	0.03395	0.024632156	0.00486	0.03128957	0.02942	0.02929668	0.01253	-3.44	0.17539	T	.	.	0.067	0.05623	B	.;.;.;.;.;.	.;.;.;.;.;.	1.855739	0.23572	16.07	0.38239398921408457	0.02567	0.14239	0.18297	N	AEFDGBCI	0.165939	0.29247	N	-1.37697946463596	0.02855	0.1266677	-1.42258336447293	0.03027	0.1404354	0.999990312932974	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.12	-1.38	0.08554	0.734000	0.25769	3.667000	0.39425	-0.132000	0.13132	0.001000	0.13787	0.905000	0.28034	0.005000	0.06747	0.1104:0.3129:0.3425:0.2343	2.047	0.03346	278	0.89047	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.024673	0.025253	0.027174	0.055556	0.000000	0.034483	0.003049	0.007576	0.08333	1038.83	33	chr11	65537979	.	G	A	1038.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=249;ExcessHet=0;FS=1.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.07;SOR=0.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	5	0	1	0
chr11	65593785	65593785	C	T	exonic	KCNK7	.	nonsynonymous SNV	KCNK7:NM_005714:exon2:c.G409A:p.V137M,KCNK7:NM_033347:exon2:c.G409A:p.V137M,KCNK7:NM_033348:exon2:c.G409A:p.V137M,KCNK7:NM_033455:exon2:c.G409A:p.V137M	.	423	1062	36	1	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00577556086702	0.0014	0.000399361	0.0019	0.0005	0.0014	0	0	0.0030	0.0062	0.0007	0.0018111	280	154602	rs149447683	0.0016	0.0016	0.0015	0.0017	0.0376	0.0016	0.0015	0.0335	0.0319	0.0006	0.0025	0.0187	0.0001	0	0.0376	0.0011	0.0033	0.0011	0.0018	0.0018	0.0019	0.0018	0.0038	0.0017	0.0016	0.0030	0.0027	0.0002	0	0.0038	0.0184	0	0	0.0476	0.0017	0.0057	0.0008	0.11	0.31532	T	0.123	0.36233	T	0.473	0.36591	P	0.055	0.25995	B	0.544865	0.11497	N	0.759301	0.999989	0.18198	N	1.27	0.32069	L	1.68	0.27184	T	-0.11	0.08653	N	0.212	0.23632	-1.0365	0.18388	T	0.028	0.11795	T	10	0.006858796	0.00156	T	0.005776	0.14982	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.37698241270892413	0.37613	0.0366019164436	0.03876	0.352996230125	0.18362	T	0.206739	0.56617	T	-0.618864	0.00112	T	-0.667899	0.07743	T	0.000291800856374316	0.00002	T	0.658834	0.26791	T	0.031864665	0.03105	0.047816005	0.06969	0.031864665	0.03104	0.047816005	0.06969	-4.658	0.32892	T	.	.	0.188	0.42678	B	.;.;.;.	.;.;.;.	0.955733	0.13320	9.823	0.92703178222089044	0.22195	0.09203	0.15006	N	ALL	0.082991	0.16809	N	-0.973156729164069	0.09180	0.433405	-1.01309740300148	0.09497	0.4728101	0.999999999598465	0.74766	0.648878	0.45929	0	0.703908	0.78521	0	0.596394	0.31383	0	0.636	0.56748	0	.	.	5.45	-1.52	0.08181	0.160000	0.16278	0.050000	0.13987	-0.799000	0.03183	0.000000	0.06391	0.001000	0.17328	0.046000	0.14843	0.2329:0.253:0.3671:0.147	2.279	0.03857	275	0.89190	Potassium channel domain;Potassium channel domain;Potassium channel domain;Potassium channel 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	0.034378	0.015306	0.057221	0.058480	0.000000	0.043103	0.009202	0.003846	0.1667	1587.04	40	chr11	65593785	.	C	T	1587.04	.	AC=2;AF=0.167;AN=12;DP=241;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.39;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1167	5	1	0	0
chr11	65780185	65780203	GCAGTGGTGGCCGCCAGCA	-	exonic	AP5B1	.	frameshift deletion	AP5B1:NM_138368:exon2:c.290_308del:p.L97Pfs*55	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386329563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	727.03	36	chr11	65780184	.	GGCAGTGGTGGCCGCCAGCA	G	727.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.574;DP=120;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.24;SOR=0.904	GT:AD:DP:GQ:PL	0/1:10,11:21:99:432,0,387	4	0	2	0
chr11	66555362	66555362	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon7:c.C713T:p.A238V,ACTN3:NM_001258371:exon7:c.C842T:p.A281V	.	296	1199	25	2	0	29	0.0119489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	0.00359425	0.0068	0.0025	0.0043	0	0.0009	0.0099	0.0066	0.0046	0.0069404	1073	154602	rs144340728	0.0084	0.0084	0.0084	0.0083	0.0163	0.0083	0.0082	0.0136	0.0126	0.0016	0.0050	0.0205	0	0.0016	0.0163	0.0094	0.0086	0.0040	0.0064	0.0064	0.0068	0.0060	0.0097	0.0061	0.0060	0.0091	0.0089	0.0019	0.0033	0.0074	0.0222	0	0.0007	0.0102	0.0097	0.0066	0.0037	.	.	.	0.859	0.10429	T	0.416	0.35222	B	0.312	0.41466	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	0.013723195	0.00290	T	.	.	.	.	.	.	.	0.618057396677	0.61496	0.6843920444954242	0.68378	.	.	0.745128154755	0.73728	T	0.384957	0.93084	T	0.0370574	0.56659	T	0.294734	0.87949	D	.	.	.	0.975469	0.91344	D	0.26528773	0.49597	0.43358165	0.66906	0.26528773	0.49597	0.43358165	0.66906	-9.369	0.70041	D	.	.	0.252	0.56959	B	.;.	.;.	4.469163	0.69627	25.4	0.99661219910328513	0.77947	0.98007	0.78823	D	AEFDBI	0.924860	0.90353	D	.	.	.	.	.	.	0.999999002257923	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.69	4.69	0.58546	7.844000	0.85149	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.190	0.72721	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	rs144340728	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.005051	0.028533	0.020468	0.000000	0.017241	0.012195	0.003788	0.08333	1888.83	34	chr11	66555362	.	C	T	1888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.34;DP=347;ExcessHet=0;FS=4.164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.478;SOR=1.083	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	5	0	1	0
chr11	66557741	66557741	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon10:c.C940T:p.R314C,ACTN3:NM_001258371:exon10:c.C1069T:p.R357C	.	61	1446	14	1	0	16	0.00550206	.	.	.	2813380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0017	0.0001	0.0002	0	0	0.0002	0.0039	0.0114	0.001326	205	154602	rs200574979	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0093	0.0091	0.0002	6.721e-05	0	2.521e-05	0	0.0033	8.995e-05	0.0007	0.0099	0.0004	0.0004	0.0003	0.0005	0.0100	0.0004	0.0003	0.0077	0.0069	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0100	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.88909	.	.	.	.	.	.	.	0.024686664	0.00688	T	.	.	.	.	.	.	.	0.643721901085	0.64077	0.6907061601940923	0.69010	.	.	0.655592679977	0.60780	T	0.510415	0.82680	D	0.0220035	0.54652	T	0.265511	0.86352	D	.	.	.	0.99685	0.98806	D	0.16444573	0.36653	0.24900775	0.50463	0.16444573	0.36653	0.24900775	0.50462	-9.76	0.72462	D	.	.	0.285	0.60378	B	.;.	.;.	4.754785	0.76815	26.6	0.99939431137062129	0.99734	0.93766	0.59130	D	AEFDGBI	0.781326	0.71294	D	.	.	.	.	.	.	0.981173956377792	0.30228	0.295142	0.05270	0	0.097471	0.02872	0	0.343423	0.05949	0	0.109499	0.03221	0	.	.	4.53	4.53	0.55009	3.287000	0.51438	4.932000	0.46138	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2028:0.7971:0.0:0.0	9.930	0.40686	59	0.97452	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.1667	3856.04	33	chr11	66557741	.	C	T	3856.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.82;SOR=1.149	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	5	1	0	0
chr11	66561343	66561343	G	A	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon16:c.G1977A:p.W659X,ACTN3:NM_001258371:exon16:c.G2106A:p.W702X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.378e-06	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.93487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.767403	0.99844	49	0.99004904028019325	0.50231	0.98742	0.86270	D	AEFDGBI	0.403925	0.47741	N	.	.	.	.	.	.	0.999999927846786	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.062806	0.01542	0	.	.	4.64	4.64	0.57399	10.003000	0.99689	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:1.0:0.0	15.041	0.71452	59	0.97452	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	725.83	86	chr11	66561343	.	G	A	725.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.698;DP=306;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.253;SOR=0.617	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr11	66592558	66592558	C	G	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G458C:p.R153P	.	.	.	.	.	.	.	.	.	.	.	3641292	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.0457710255806	7.7e-05	.	4.973e-05	0	0.0003	0	0	3.023e-05	0	0	3.88e-05	6	154602	rs150149433	4.587e-05	4.583e-05	4.632e-05	4.541e-05	8.944e-05	3.664e-05	3.35e-05	4.178e-05	3.825e-05	0	8.944e-05	0	0	0	0	5.306e-05	3.312e-05	2.319e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000404	0.44736	D	0.000000	0.940561	0.37302	D	2.08	0.57402	M	-0.35	0.68616	T	-4.95	0.81910	D	0.82	0.81559	0.045	0.83149	D	0.469	0.79513	T	10	0.8662348	0.85868	D	0.045771	0.62143	D	0.541	0.80842	.	.	0.74304523599	0.74073	0.7991811219608808	0.79871	0.74609002233	0.63525	0.468451350927	0.34467	T	0.218761	0.58158	T	0.134702	0.67817	D	0.181415	0.82076	D	0.862407445907593	0.51271	D	0.664234	0.27311	T	0.85381675	0.87618	0.77900386	0.86968	0.85381675	0.87620	0.77900386	0.86969	-4.102	0.25320	T	.	.	0.937	0.85657	P	.	.	4.518581	0.70831	25.6	0.99574161269324457	0.72561	0.85545	0.44688	D	AEFGBCI	0.654494	0.62716	D	0.572954294470099	0.71488	5.658828	0.47117427625024	0.66089	4.906728	0.999999987695279	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.239995	0.05000	1	0.638787	0.57140	0	.	.	5.11	5.11	0.69188	2.522000	0.45232	3.864000	0.40152	0.599000	0.40250	0.976000	0.34826	0.999000	0.35428	0.059000	0.15899	0.0:1.0:0.0:0.0	13.897	0.63282	61	0.97388	.	.	.	.	.	.	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	1715.83	38	chr11	66592558	.	C	G	1715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.242;DP=358;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.604;SOR=0.75	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1726,0,1851	5	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	287.99	62	chr11	66863811	.	C	T	287.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.923;DP=389;ExcessHet=0.4139;FS=178.811;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.15;SOR=8.497	GT:AD:DP:GQ:PL	0/1:65,33:98:99:218,0,1105	1	0	2	3
chr11	67240269	67240269	C	G	exonic	KDM2A	.	nonsynonymous SNV	KDM2A:NM_001256405:exon1:c.C62G:p.S21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0482242347532	.	.	9.297e-05	0	0	0	.	0	0	0.0001	6.5e-06	1	154602	rs772480573	3.614e-06	3.42e-06	0	7.325e-06	5.048e-05	1.06e-06	7.7e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	1.727e-05	5.048e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.041	0.41915	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.71	0.26737	T	-0.2	0.10136	N	0.157	0.16308	-1.0217	0.23162	T	0.104	0.38144	T	6	0.1258936	0.23929	T	0.048224	0.63278	D	0.025	0.05312	0.248	0.18447	0.371018649785	0.36716	.	.	.	.	.	.	.	.	.	.	-0.419809	0.01715	T	-0.604135	0.12465	T	0.257844686508179	0.23220	T	0.358764	0.08201	T	.	.	.	.	.	.	.	.	-4.803	0.34627	T	.	.	0.089	0.12132	B	.	.	2.596526	0.33695	19.42	0.94233308852165909	0.24492	0.80265	0.39948	D	AEFGBHCIJ	0.238971	0.36101	N	0.206614634714191	0.51517	3.332494	0.240055129832247	0.52085	3.385881	0.999999999999976	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.56214	0.19341	0	.	.	4.93	4.02	0.45968	1.911000	0.39567	5.690000	0.49333	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:0.8992:0.0:0.1008	8.948	0.34932	253	0.90069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3571.04	112	chr11	67240269	.	C	G	3571.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.88;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	5	1	0	0
chr11	67421155	67421155	T	G	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon8:c.T1193G:p.V398G,CARNS1:NM_001166222:exon9:c.T1562G:p.V521G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.590197494278	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs757456171	2.238e-06	2.736e-06	0	4.535e-06	4e-05	6e-07	1.7e-07	1.062e-05	4.95e-06	0	0	0	0	0	0	0	0	4e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.005	0.72224	D	0.1	0.25713	B	0.036	0.22909	B	.	.	.	.	1	0.81001	D	0.805	0.20218	L	1.32	0.35775	T	-4.12	0.75058	D	0.603	0.63204	-1.0508	0.14175	T	0.068	0.27811	T	9	0.7842231	0.78109	D	0.590197	0.96357	D	0.337	0.65913	0.764	0.89213	0.282575091529	0.27877	0.45050288099680696	0.44968	0.217465092309	0.24265	0.835216522217	0.87363	D	0.305898	0.67813	T	-0.0434978	0.45427	T	-0.0405789	0.67663	D	0.129738888395683	0.15358	T	0.558444	0.19458	T	0.5420293	0.69510	0.54214525	0.73537	0.5420293	0.69511	0.54214525	0.73537	-16.767	0.98838	D	.	.	0.722	0.73880	P	.;.;.	.;.;.	3.821149	0.55171	23.6	0.92017357714123305	0.21354	0.85214	0.44327	D	ALL	0.535942	0.55436	D	-0.291224770397675	0.29485	1.635581	-0.194122418661459	0.31753	1.799895	1.0	0.98316	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.07	4.07	0.46726	4.066000	0.57236	5.837000	0.50214	0.494000	0.22454	1.000000	0.71638	1.000000	0.68203	0.401000	0.26804	0.0:0.0:0.0:1.0	12.002	0.52524	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1554.07	47	chr11	67421155	.	T	G	1554.07	.	AC=2;AF=0.167;AN=12;DP=122;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.07;SOR=1.251	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	5	1	0	0
chr11	67424101	67424101	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon9:c.C1984T:p.R662C,CARNS1:NM_001166222:exon10:c.C2353T:p.R785C	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.383238732897	0.0009	0.000199681	0.0015	0.0003	0.0007	0	0	0.0021	0.0068	0.0012	0.0013325	206	154602	rs200939791	0.0011	0.0011	0.0010	0.0012	0.0116	0.0011	0.0010	0.0094	0.0086	0.0005	0.0010	0.0169	0	0	0.0116	0.0007	0.0025	0.0012	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0007	0.0007	0.0002	0.0066	0.0010	0.0187	0	0	0.0204	0.0009	0.0043	0.0014	0.004	0.65419	D	0.001	0.83351	D	0.999	0.77913	D	0.916	0.65201	D	0.052379	0.22900	N	0.365189	0.999991	0.58761	D	2.12	0.58754	M	-4.74	0.98081	D	-4.6	0.78976	D	0.577	0.59901	1.076	0.98747	D	0.938	0.97961	D	10	0.009218007	0.00208	T	0.383239	0.93020	D	0.605	0.84452	.	.	0.715623069456	0.71312	0.612148894738151	0.61146	0.476242369952	0.46766	0.4908875525	0.37561	T	0.110191	0.42469	T	-0.0650303	0.42119	T	0.0882603	0.76129	D	0.0333921148596845	0.02536	T	0.935706	0.75920	D	0.24615945	0.47582	0.20038329	0.43967	0.24615945	0.47582	0.20038329	0.43966	-9.406	0.70272	D	.	.	0.101	0.28027	B	.;.;.	.;.;.	5.297910	0.88949	29.8	0.99935222376539823	0.99579	0.96281	0.68375	D	AEFBI	0.808532	0.73228	D	0.612634333322644	0.73972	6.054346	0.610730061525176	0.75719	6.360326	0.999999999276438	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	4.015000	0.56864	7.678000	0.65147	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.616	0.87969	654	0.62520	.;ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005051	0.019022	0.020468	0.000000	0.034483	0.009202	0.000000	0.1667	3319.04	38	chr11	67424101	.	C	T	3319.04	.	AC=2;AF=0.167;AN=12;DP=289;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.22;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1393	5	1	0	0
chr11	67664499	67664499	G	A	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon8:c.C770T:p.P257L,ALDH3B2:NM_001354345:exon9:c.C770T:p.P257L	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	.	0.0018	0.00279553	0.0026	0.0004	0.0010	0	0	0.0026	0.0022	0.0076	0.0023738	367	154602	rs150084712	0.0025	0.0025	0.0023	0.0027	0.0072	0.0024	0.0024	0.0068	0.0066	0.0004	0.0007	0.0085	2.519e-05	1.872e-05	0.0063	0.0023	0.0026	0.0072	0.0019	0.0019	0.0017	0.0021	0.0104	0.0017	0.0016	0.0081	0.0073	0.0004	0	0.0012	0.0098	0	0	0	0.0023	0.0014	0.0104	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.545	0.99110	H	-3.69	0.95317	D	-9.7	0.98602	D	0.989	0.99670	1.091	0.99295	D	0.957	0.98615	D	10	0.12536263	0.23821	T	.	.	.	0.928	0.98267	.	.	0.976308020779	0.97605	0.9449000254571344	0.94472	0.777711585674	0.65120	0.622250556946	0.56047	T	0.494025	0.81734	T	0.213359	0.75148	D	0.538826	0.95405	D	0.230741646468653	0.21987	T	0.992251	0.97542	D	0.9802403	0.99128	0.9513399	0.98480	0.9802403	0.99128	0.9513399	0.98480	-10.231	0.75283	D	.	.	0.466	0.62985	A	.;.	.;.	5.238448	0.87935	29.4	0.99897445217261727	0.96971	0.99222	0.93031	D	AEFDBI	0.873197	0.79542	D	0.986518143290859	0.95316	13.50433	0.839598244448149	0.92395	11.40123	0.9999999998381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	9.833000	0.98330	11.147000	0.87239	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	16.108	0.81049	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.004076	0.029240	0.000000	0.008621	0.012195	0.000000	0.1667	3760.06	33	chr11	67664499	.	G	A	3760.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.33;DP=496;ExcessHet=0.4139;FS=1.29;MLEAC=2;MLEAF=0.167;MQ=59.91;MQRankSum=0;QD=11.19;ReadPosRankSum=0.555;SOR=0.617	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1730,0,2286	4	0	2	0
chr11	68688878	68688878	A	G	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon5:c.A253G:p.N85D	.	429	1088	5	0	0	5	0.00229253	.	.	.	526463	GAL-related_disorder|Familial_temporal_lobe_epilepsy_8	.|MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0041346410659	0.0018	0.000199681	0.0018	0.0007	0.0004	0	0.0003	0.0030	0.0011	0.0003	0.0018046	279	154602	rs145825008	0.0022	0.0022	0.0022	0.0021	0.0027	0.0021	0.0021	0.0026	0.0026	0.0005	0.0002	0.0007	0	0.0003	0.0023	0.0027	0.0016	0.0002	0.0013	0.0013	0.0015	0.0010	0.0024	0.0011	0.0011	0.0021	0.0020	0.0005	0	6.533e-05	0.0006	0	0.0003	0	0.0024	0.0009	0.0002	0.356	0.12070	T	0.416	0.14284	T	0.002	0.09854	B	0.005	0.11217	B	0.031693	0.25133	N	0.434676	1	0.08975	N	1.01	0.25309	L	0.88	0.46028	T	-2.2	0.49519	N	0.127	0.12055	-1.0406	0.17132	T	0.066	0.27364	T	10	0.007835507	0.00178	T	0.004135	0.09900	T	0.088	0.25558	.	.	0.344483371355	0.34058	0.2692163837963068	0.26834	0.14339573165	0.16189	0.319076061249	0.13281	T	0.315604	0.68720	T	-0.677592	0.00050	T	-0.748196	0.03557	T	0.00332309520042867	0.00035	T	0.348865	0.07732	T	0.105139	0.24859	0.06379725	0.12692	0.091293454	0.21386	0.076005	0.16788	-2.787	0.08064	T	0.10230146235944937	0.07760	0.079	0.07083	B	.	.	0.334140	0.07081	3.650	0.63880400772978929	0.07342	0.03331	0.08406	N	AEDBCI	0.056894	0.10553	N	-1.02357252254032	0.08117	0.3794409	-1.08820614304315	0.07931	0.3878409	0.428211273009373	0.20348	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	3.94	0.036	0.13508	0.347000	0.19760	0.924000	0.22727	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6341:0.0:0.3659:0.0	6.259	0.20101	809	0.43032	Galanin message associated peptide (GMAP)|Galanin message associated peptide (GMAP)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1657.83	36	chr11	68688878	.	A	G	1657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.09;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.22;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	5	0	1	0
chr11	68804031	68804031	G	T	exonic	CPT1A	.	nonsynonymous SNV	CPT1A:NM_001031847:exon5:c.C524A:p.P175Q,CPT1A:NM_001876:exon5:c.C524A:p.P175Q	CPT deficiency, hepatic, type IA, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.766714460368	.	0.000199681	8.242e-05	0	0	0	0	2.999e-05	0	0.0005	7.12e-05	11	154602	rs561244283	1.163e-05	1.231e-05	1.225e-05	1.1e-05	0.0001	7.09e-06	5.79e-06	7.998e-05	6.237e-05	0	0	0	0	0	0	1.799e-06	4.968e-05	0.0001	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.035	0.96960	H	-5.19	0.98838	D	-5.72	0.88289	D	0.839	0.83576	1.036	0.97824	D	0.982	0.99453	D	10	0.97734874	0.97562	D	0.766714	0.98152	D	0.960	0.99376	0.851	0.95260	0.971374388957	0.97106	0.9108423430555826	0.91058	1.21106681549	0.80841	0.551061749458	0.46007	T	0.972988	0.99717	D	0.335807	0.85553	D	0.566554	0.96104	D	0.936500430107117	0.60554	D	0.988601	0.96130	D	0.7188033	0.79095	0.76061416	0.85856	0.7188033	0.79096	0.76061416	0.85857	-11.794	0.84172	D	0.6964449946220405	0.77486	0.597	0.68751	P	.;.;.;.	.;.;.;.	4.634185	0.73709	26.0	0.98979757056005402	0.49700	0.98034	0.79045	D	AEFDBHI	0.930538	0.91799	D	0.762121812684434	0.83690	8.08439	0.585359068861909	0.73888	6.04498	0.998463833065968	0.37014	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.11	4.16	0.48138	6.622000	0.74100	11.550000	0.93175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.0:0.1418:0.8582:0.0	15.182	0.72653	873	0.30802	.;.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1650.83	34	chr11	68804031	.	G	T	1650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.347;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	5	0	1	0
chr11	69067504	69067504	A	T	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon8:c.A728T:p.Q243L	.	.	.	.	.	.	.	.	0.0645	0.466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.282746572528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13744	T	0.287	0.21210	T	0.009	0.38028	B	0.009	0.40614	B	0.409415	0.13017	N	0.684405	0.870085	0.28220	N	1.175	0.29870	L	-4.42	0.97469	D	-1.83	0.42957	N	0.506	0.53796	0.330	0.88030	D	0.775	0.92353	D	10	0.2779212	0.45360	T	0.282747	0.90289	D	0.547	0.81193	0.277	0.23004	0.826045039834	0.82439	0.5005053005675622	0.49971	0.235332845833	0.26065	0.383998990059	0.22822	T	0.50644	0.82463	D	0.232756	0.76978	D	0.0965618	0.76679	D	0.370952739704327	0.27834	T	0.525248	0.17252	T	0.13076338	0.30502	0.078223035	0.17501	0.13076338	0.30502	0.078223035	0.17500	-4.553	0.31576	T	.	.	0.092	0.15160	B	.;.;.;.	.;.;.;.	3.217547	0.43821	21.8	0.95819222579028052	0.27907	0.97805	0.77262	D	AEFDBI	0.712055	0.66530	D	-0.109212199029725	0.36991	2.145809	0.0095593303685193	0.40156	2.392156	0.999639590619422	0.41205	0.651	0.46895	0	0.653731	0.59785	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.97	4.97	0.65419	3.278000	0.51366	8.810000	0.78271	0.743000	0.86499	0.994000	0.38300	1.000000	0.68203	0.461000	0.28141	1.0:0.0:0.0:0.0	11.350	0.48820	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.08333	473.83	42	chr11	69067504	.	A	T	473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.567;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1352:.	5	0	1	0
chr11	70473434	70473434	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon11:c.C3221T:p.P1074L,SHANK2:NM_001379226:exon16:c.C3848T:p.P1283L,SHANK2:NM_012309:exon26:c.C4985T:p.P1662L	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0026844951943	.	.	8.408e-06	0	0	0	0	1.529e-05	0	0	1.94e-05	3	154602	rs782778740	6.618e-05	6.635e-05	7e-05	6.233e-05	8.544e-05	5.538e-05	5.147e-05	7.136e-05	6.627e-05	0	0	0	0	0	0	8.544e-05	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.10553	T	0.427	0.21812	T	0.003	0.11197	B	0.003	0.08700	B	0.254952	0.03671	N	1.434720	0.997879	0.44275	D	.	.	.	2.37	0.15964	T	-0.62	0.18248	N	0.083	0.18784	-1.0261	0.21723	T	0.085	0.33157	T	10	0.091744035	0.16097	T	0.002684	0.05492	T	0.088	0.25558	.	.	0.102598925029	0.09809	0.27047011254488085	0.26960	0.469444348437	0.46252	0.367657244205	0.20495	T	0.021707	0.16859	T	-0.277295	0.10956	T	-0.526033	0.19685	T	0.291696697473526	0.24660	T	0.856614	0.54540	D	.	.	.	.	.	.	.	.	-5.006	0.36905	T	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	3.693572	0.52643	23.3	0.9471031884644675	0.25372	0.88329	0.48207	D	AEFBI	0.511545	0.54013	D	-0.347181007665733	0.27376	1.50148	-0.118058145834324	0.34663	1.996396	0.999838859815929	0.43792	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.0	0.66209	3.359000	0.52012	8.538000	0.77482	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0683:0.0:0.9317:0.0	14.889	0.70237	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1662.04	34	chr11	70473434	.	G	A	1662.04	.	AC=2;AF=0.167;AN=12;DP=224;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.96;SOR=1.244	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1073	5	1	0	0
chr11	71582755	71582755	C	G	exonic	KRTAP5-11	.	nonsynonymous SNV	KRTAP5-11:NM_001005405:exon1:c.G83C:p.C28S	.	435	1026	56	4	1	65	0.0302457	.	.	.	2343367	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00192359318922	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs202232812	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	4.105e-05	0	0.0001	0.0002	0.0007	0.0005	0.0003	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0003	0	0	0	0	0.0001	0	0.0005	0.0005	0.0002	0.0	0.91255	D	0.055	0.48336	T	0.994	0.66517	D	0.908	0.64494	P	.	.	.	.	0.813758	0.28968	N	1.925	0.51371	L	5.32	0.01079	T	-4.87	0.81269	D	0.311	0.35088	-0.9809	0.34794	T	0.010	0.03719	T	9	0.14116338	0.26825	T	0.001924	0.03404	T	0.046	0.12618	0.269	0.21735	0.198526703765	0.19489	0.02493473011650598	0.02444	0.010741408872	0.00990	.	.	.	0.090791	0.38659	T	-0.444937	0.01210	T	-0.502253	0.22114	T	0.0889019672450013	0.11086	T	0.20198	0.02320	T	0.5776709	0.71481	0.5980566	0.76657	0.5776709	0.71482	0.5980566	0.76658	-4.094	0.25201	T	.	.	0.168	0.36889	B	.;.	.;.	0.880672	0.12539	9.068	0.86472147901816454	0.16558	0.35003	0.25200	N	AEFBI	0.151868	0.27644	N	0.154567787353232	0.49028	3.107897	0.0339024856290828	0.41301	2.478991	0.158577456638518	0.17556	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.07	2.07	0.26004	-0.245000	0.08908	.	.	0.261000	0.18407	0.000000	0.06391	0.985000	0.30750	0.060000	0.15972	0.0:1.0:0.0:0.0	9.809	0.39978	454	0.79125	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2432.45	38	chr11	71582755	.	C	G	2432.45	.	AC=2;AF=0.167;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=2;MLEAF=0.167;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	0/0:58,0:103:99:1742,1917,4345	5	1	0	0
chr11	71582755	71582755	C	0	exonic	KRTAP5-11	.	.	.	.	435	1026	56	4	1	65	0.0302457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2432.45	38	chr11	71582755	.	C	*	2432.45	.	AC=3;AF=0.25;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=3;MLEAF=0.25;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1742,0,2265	3	0	3	0
chr11	72824760	72824760	T	C	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon9:c.T596C:p.I199T,ATG16L2:NM_033388:exon9:c.T914C:p.I305T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3279801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.00779501880294	0.0002	0.000199681	0.0002	0.0003	0.0010	0	0	0.0001	0	0.0001	0.0001617	25	154602	rs199726953	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	9.769e-05	0.0007	0.0007	0.0002	0.0010	0	2.52e-05	1.873e-05	0.0007	7.285e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0004	0	0	0	0	0.0002	0	0.0002	0.281	0.31682	T	0.108	0.39645	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.00162	N	171.105000	1	0.81001	D	1.95	0.52479	M	0.57	0.57100	T	-1.4	0.36189	N	0.422	0.46180	-1.0850	0.06407	T	0.109	0.39320	T	10	0.040379763	0.02602	T	0.007795	0.20668	T	0.147	0.38986	.	.	0.688381363808	0.68571	0.2760666609507693	0.27519	0.314096545995	0.33693	0.369410693645	0.20748	T	0.030431	0.21574	T	-0.343052	0.05179	T	-0.315987	0.43012	T	0.028642114251852	0.01783	T	0.840516	0.54093	T	0.12631376	0.29589	0.11818954	0.28530	0.12631376	0.29589	0.11818954	0.28529	-2.094	0.03558	T	.	.	0.099	0.16670	B	.;.;.	.;.;.	3.541081	0.49734	22.8	0.98277434927211138	0.39823	0.93348	0.57977	D	AEFDBCI	0.459781	0.51024	N	-0.235851858581917	0.31673	1.778303	-0.0267189317824434	0.38513	2.270047	0.999999693523052	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	4.83	4.83	0.61880	1.880000	0.39263	6.108000	0.53630	0.665000	0.62972	0.447000	0.26542	0.982000	0.30508	0.984000	0.60418	0.0:0.0:0.0:1.0	10.710	0.45177	509	0.75304	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1975.83	34	chr11	72824760	.	T	C	1975.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.976;DP=359;ExcessHet=0;FS=4.16;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.39;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	5	0	1	0
chr11	73968409	73968409	G	A	exonic	DNAJB13	.	nonsynonymous SNV	DNAJB13:NM_153614:exon6:c.G671A:p.R224H,DNAJB13:NM_001377263:exon7:c.G497A:p.R166H	Ciliary dyskinesia, primary, 34, Autosomal recessive	427	1092	3	0	0	3	0.00137174	.	.	.	713160	not_provided|Cough	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012735,MedGen:C0010200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.204	0.0789219970916	0.0038	0.000599042	0.0032	0.0011	0.0026	0	0.0014	0.0050	0.0022	0.0004	0.0035122	543	154602	rs147921001	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0010	0.0028	0.0001	2.519e-05	0.0021	0.0021	0.0059	0.0047	0.0003	0.0035	0.0035	0.0038	0.0033	0.0060	0.0033	0.0032	0.0055	0.0053	0.0012	0.0022	0.0026	0	0	0.0027	0.0034	0.0060	0.0043	0.0002	0.034	0.44029	D	0.009	0.66756	D	0.563	0.38396	P	0.081	0.28987	B	0.004046	0.34172	N	0.325774	0.864898	0.29192	N	2.32	0.66415	M	0.83	0.47815	T	-2.71	0.57762	D	0.387	0.42834	-0.7892	0.55776	T	0.088	0.34133	T	10	0.026716858	0.00832	T	0.078922	0.73116	D	0.204	0.49076	.	.	0.588082203375	0.58483	0.3847448005600294	0.38389	0.310688442189	0.33380	0.465925395489	0.34122	T	0.073734	0.34768	T	-0.435007	0.01384	T	-0.393489	0.34142	T	0.025827139741923	0.01382	T	0.921208	0.72041	D	0.116691545	0.27520	0.08889295	0.20755	0.11710543	0.27613	0.08738388	0.20307	-7.448	0.57243	T	0.18673874751455136	0.24320	0.096	0.27553	B	.;.;.	.;.;.	4.113361	0.61430	24.3	0.99858134068463411	0.93639	0.54273	0.29575	D	AEFDBCI	0.245647	0.36654	N	0.2118729314998	0.51773	3.356081	0.294554538480526	0.55220	3.68534	0.99978028436012	0.43007	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	1.918000	0.39636	9.811000	0.81748	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1695:0.0:0.8305:0.0	8.210	0.30638	262	0.89730	Chaperone DnaJ, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.020202	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.1667	5946.04	35	chr11	73968409	.	G	A	5946.04	.	AC=2;AF=0.167;AN=12;DP=371;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.97;SOR=1.038	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1465	5	1	0	0
chr11	74033924	74033924	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6236T:p.T2079M	.	421	1071	30	0	0	30	0.0138122	.	.	.	1291895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00439297	0.0110	0	0.0052	0	0	0.0012	0.0053	0.0201	0.0014036	217	154602	rs184111772	0.0019	0.0018	0.0014	0.0024	0.0184	0.0018	0.0018	0.0176	0.0173	0.0002	0.0015	0.0008	0	0	0.0097	0.0008	0.0021	0.0184	0.0010	0.0010	0.0008	0.0013	0.0149	0.0009	0.0008	0.0122	0.0111	0.0002	0	0.0011	0.0009	0.0002	0	0.0102	0.0007	0.0019	0.0149	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000590	0.43095	D	0.096031	0.882274	0.35776	D	2.705	0.79137	M	2.64	0.12780	T	-2.09	0.47683	N	0.574	0.59648	-1.0499	0.14425	T	0.096	0.36159	T	7	0.0060827434	0.00137	T	.	.	.	0.184	0.45763	.	.	0.337378238328	0.33340	0.4445737345665607	0.44375	.	.	.	.	.	0.053507	0.29462	T	-0.286743	0.09966	T	-0.169726	0.57469	T	0.0842597628729641	0.10523	T	0.873413	0.58193	D	0.089841336	0.21004	0.21382648	0.45909	0.075775586	0.17095	0.17880712	0.40573	-5.338	0.40318	T	0.8030745479137866	0.87944	0.097	0.15788	B	.	.	4.330860	0.66357	25.0	0.9991052077426007	0.98022	0.97068	0.72503	D	AEFGBI	0.573744	0.57681	D	0.515381272732333	0.67998	5.157176	0.613423312346808	0.75913	6.395608	0.999999989327057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	5.553000	0.66992	5.818000	0.50061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.338	0.94317	327	0.86637	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3201.83	35	chr11	74033924	.	G	A	3201.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=374;ExcessHet=0;FS=4.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.589;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	5	0	1	0
chr11	74057414	74057414	C	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon25:c.G5082T:p.Q1694H,C2CD3:NM_015531:exon25:c.G5082T:p.Q1694H	.	433	1084	5	0	0	5	0.00230097	.	.	.	713165	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00600807042247	0.0042	0.000798722	0.0032	0.0010	0.0027	0	0.0014	0.0049	0.0022	0.0003	0.0033829	523	154602	rs142214951	0.0051	0.0051	0.0052	0.0050	0.0061	0.0050	0.0050	0.0060	0.0060	0.0009	0.0034	0.0001	2.519e-05	0.0023	0.0023	0.0061	0.0049	0.0003	0.0037	0.0037	0.0039	0.0035	0.0064	0.0035	0.0034	0.0059	0.0057	0.0013	0.0022	0.0027	0	0	0.0028	0	0.0064	0.0057	0.0002	0.273	0.17881	T	0.443	0.26386	T	0.001	0.07471	B	0.004	0.10090	B	0.000013	0.62929	N	0.120255	0.603407	0.32558	D	0.92	0.23413	L	1.0	0.41392	T	-0.75	0.27463	N	0.292	0.33578	-1.0391	0.17587	T	0.047	0.19998	T	10	0.0043418407	0.00088	T	0.006008	0.15698	T	0.087	0.25287	0.345	0.33950	0.165133752707	0.16062	0.41408200645514487	0.41324	0.0931662067262	0.10528	0.495082676411	0.38143	T	0.107833	0.42037	T	-0.525843	0.00406	T	-0.523969	0.19894	T	0.00221659369988044	0.00023	T	0.732227	0.36599	T	0.06873279	0.14997	0.050011054	0.07760	0.09343637	0.21945	0.043951396	0.05585	-6.887	0.55237	T	0.39549794396042	0.48808	0.166	0.36653	B	.;.;.	.;.;.	1.588183	0.20318	14.69	0.91898239881090904	0.21218	0.45061	0.27455	N	AEFDGBHCI	0.210886	0.33673	N	-0.562385963830552	0.20096	1.056949	-0.4155327824535	0.24542	1.344445	0.999999999897464	0.74766	0.740787	0.97801	0	0.653731	0.59785	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.13	2.15	0.26590	-0.279000	0.08512	-0.442000	0.09154	-0.228000	0.07776	0.644000	0.28119	0.051000	0.21832	0.980000	0.58198	0.0:0.5956:0.2566:0.1478	7.471	0.26519	319	0.87030	C2 domain|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	0	0	0	0	0	1	0	0.003021	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.1667	3223.04	36	chr11	74057414	.	C	A	3223.04	.	AC=2;AF=0.167;AN=12;DP=281;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.78;SOR=0.844	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	5	1	0	0
chr11	74497045	74497045	G	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G140T:p.R47I	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0163	0	0.0111	0	0	0.0115	0.0227	0.0201	0.002141	331	154602	rs192945527	0.0073	0.0036	0.0053	0.0087	0.0316	0.0070	0.0069	0.0263	0.0243	0.0013	0.0029	0.0171	0	7.812e-05	0.0316	0.0035	0.0066	0.0201	0.0031	0.0031	0.0029	0.0033	0.0116	0.0029	0.0028	0.0092	0.0083	0.0009	0.0187	0.0037	0.0161	0	9.443e-05	0.0238	0.0035	0.0033	0.0116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1070.83	34	chr11	74497045	.	G	T	1070.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.743;DP=267;ExcessHet=0;FS=1.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.494;SOR=0.968	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr11	74636254	74636254	C	G	exonic	POLD3	.	nonsynonymous SNV	POLD3:NM_001363597:exon11:c.C1060G:p.L354V,POLD3:NM_006591:exon11:c.C1177G:p.L393V	.	436	1065	20	1	0	22	0.010223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0054	0.00758786	0.0048	0.0120	0.0036	0	0	0.0038	0.0111	0.0095	0.0047089	728	154602	rs147578662	0.0044	0.0045	0.0040	0.0048	0.0140	0.0043	0.0043	0.0129	0.0125	0.0140	0.0033	0.0125	0	0.0001	0.0137	0.0038	0.0057	0.0104	0.0061	0.0061	0.0061	0.0062	0.0122	0.0058	0.0057	0.0113	0.0110	0.0122	0.0186	0.0040	0.0138	0	0	0.0136	0.0036	0.0047	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.906936	0.07391	N	1.040440	1	0.08975	N	-0.805	0.01590	N	.	.	.	0.93	0.01551	N	0.128	0.12198	-1.0058	0.28216	T	0.007	0.02399	T	9	0.009622067	0.00217	T	.	.	.	0.186	0.46104	.	.	0.27715347029	0.27323	0.017684955252262904	0.01723	0.136271015109	0.15368	0.399592012167	0.25011	T	0.054	0.29655	T	-0.524436	0.00414	T	-0.514416	0.20862	T	0.00392473038531743	0.00042	T	0.10439	0.01051	T	0.035855096	0.04301	0.034463543	0.02519	0.035855096	0.04300	0.034463543	0.02519	-1.504	0.01911	T	.	.	0.043	0.00026	B	.;.;.	.;.;.	-0.562606	0.01677	0.120	0.079146042684005963	0.00053	0.00993	0.03770	N	AEFBI	0.014095	0.00212	N	-1.61163960912611	0.01207	0.05249856	-1.48734499859597	0.02448	0.1125918	0.993142806065922	0.33102	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.7	-2.42	0.06164	-0.401000	0.07293	-0.041000	0.12668	-0.107000	0.15377	0.542000	0.27283	0.124000	0.22932	0.054000	0.15518	0.2595:0.2184:0.1911:0.3309	0.108	0.00050	295	0.88218	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.020202	0.019022	0.023392	0.050000	0.017241	0.003049	0.015152	0.08333	1327.83	34	chr11	74636254	.	C	G	1327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.407;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.446;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1351:.	5	0	1	0
chr11	74859275	74859275	C	G	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378158:exon11:c.G1053C:p.K351N,XRRA1:NM_001378157:exon12:c.G1053C:p.K351N,XRRA1:NM_182969:exon12:c.G1029C:p.K343N	.	432	1084	6	0	0	6	0.00275989	.	.	.	3349698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0217557561551	0.0005	0.000199681	0.0004	0.0003	0.0017	0	0	0.0004	0	0.0002	0.0003169	49	154602	rs201462193	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0015	0.0002	0.0008	0	0	1.882e-05	0.0030	0.0004	0.0006	0.0001	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0003	0.0003	0.0005	0	0.0005	0	0.0002	0	0.0068	0.0003	0	0	0.018	0.50676	D	0.144	0.33109	T	0.907	0.50062	P	0.527	0.48453	P	.	.	.	.	1	0.81001	D	2.35	0.67516	M	0.65	0.52642	T	-0.94	0.25118	N	0.566	0.58968	-1.0141	0.25625	T	0.112	0.40145	T	9	0.08507621	0.14325	T	0.021756	0.44572	T	0.067	0.19503	0.377	0.39156	0.629112818682	0.62608	0.40836516806321943	0.40752	0.320062924988	0.34217	0.582717418671	0.50467	T	0.001751	0.01176	T	-0.406682	0.02092	T	-0.434935	0.29377	T	0.0369131677747777	0.03140	T	0.59504	0.22051	T	0.11173239	0.26400	0.0761229	0.16827	0.11173239	0.26400	0.0761229	0.16827	-3.977	0.23458	T	.	.	0.332	0.55355	B	.	.	2.934371	0.38996	20.9	0.99800331964780542	0.88550	0.59075	0.30815	D	AEFBI	0.104419	0.20894	N	0.137872459576353	0.48237	3.038653	0.136783229314495	0.46445	2.890414	0.733482511538175	0.23090	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.97	1.41	0.21461	0.505000	0.22352	1.096000	0.24025	0.599000	0.40250	0.993000	0.37899	0.995000	0.32472	0.986000	0.61781	0.0:0.4624:0.1935:0.3442	3.548	0.07391	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.015152	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	1927.04	61	chr11	74859275	.	C	G	1927.04	.	AC=2;AF=0.167;AN=12;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.59;SOR=1.292	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	5	1	0	0
chr11	75430221	75430221	C	T	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon1:c.G409A:p.G137S	.	448	1053	20	1	0	22	0.0103383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	0.000599042	0.0272	0	0	0	.	0	0	0.0324	0.0005498	85	154602	rs575396620	0.0028	0.0027	0.0027	0.0029	0.0087	0.0027	0.0026	0.0079	0.0076	0.0002	0.0024	0.0031	0.0001	0.0221	0.0059	0.0022	0.0032	0.0087	0.0036	0.0037	0.0023	0.0049	0.0073	0.0033	0.0032	0.0054	0.0047	0.0003	0	0.0017	0.0032	0.0002	0.0293	0	0.0024	0.0073	0.0073	0.608	0.05501	T	0.74	0.04982	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	1.18	0.01107	N	0.183	0.19861	-1.0191	0.24008	T	0.112	0.40168	T	6	0.010531008	0.00234	T	.	.	.	0.046	0.12618	.	.	0.263140351381	0.25927	0.2755879109376524	0.27471	0.0722180226617	0.08101	0.930422902107	0.99011	D	0.124984	0.45038	T	-0.485221	0.00690	T	-0.460368	0.26558	T	0.00850383789201212	0.00103	T	0.540346	0.18307	T	0.06870415	0.14991	0.081025176	0.18381	0.06870415	0.14991	0.081025176	0.18380	-5.267	0.39615	T	.	.	0.159	0.35204	B	.	.	2.056848	0.26148	17.02	0.78007731980886863	0.12116	0.08138	0.14103	N	ALL	.	.	.	-0.638880124747	0.17786	0.9181286	-0.756174027925671	0.15570	0.8195732	0.999999999968556	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.84	1.77	0.23848	0.534000	0.22807	3.384000	0.38022	0.434000	0.20985	0.001000	0.13787	0.979000	0.30280	0.029000	0.12982	0.1958:0.4634:0.2208:0.1201	1.913	0.03092	773	0.48803	BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005725	0.000000	0.000000	0.000000	0.000000	0.000000	0.018519	0.000000	0.1667	1841.07	34	chr11	75430221	.	C	T	1841.07	.	AC=2;AF=0.167;AN=12;DP=190;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.3;SOR=1.14	GT:AD:DP:GQ:PL	0/0:30,0:30:87:0,87,1305	5	1	0	0
chr11	76513454	76513454	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon10:c.C1435G:p.P479A,EMSY:NM_020193:exon10:c.C1432G:p.P478A,EMSY:NM_001300942:exon11:c.C1477G:p.P493A,EMSY:NM_001300944:exon11:c.C1477G:p.P493A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00382547113171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.52492	T	0.078	0.47336	T	0.478	0.36706	P	0.13	0.32896	B	0.000000	0.84330	D	0.050794	0.997807	0.51968	D	0.805	0.20218	L	.	.	.	-1.94	0.89534	N	0.417	0.52829	-0.8941	0.48567	T	0.147	0.47255	T	9	0.24682313	0.41953	T	0.003825	0.08930	T	0.097	0.27909	0.242	0.17524	0.0675242888579	0.06100	0.17967006694623153	0.17886	1.24959129164	0.81768	.	.	.	0.028626	0.39657	T	-0.00613085	0.50807	T	-0.246583	0.50155	T	0.9045569896698	0.55805	D	0.939506	0.78138	D	0.27501443	0.50566	0.2721056	0.53118	0.27501443	0.50566	0.2721056	0.53117	-6.846	0.53306	T	.	.	0.172	0.44293	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.576654	0.72255	25.8	0.98811010871014882	0.46623	0.86952	0.46351	D	AEFGBHCI	0.624023	0.60775	D	0.190817396607802	0.50758	3.262855	0.340955517890798	0.57965	3.964449	0.997607743441855	0.35808	0.758104	0.99027	0	0.653731	0.59785	0	0.630245	0.45026	0	0.665031	0.64506	0	.	.	5.46	5.46	0.80021	4.673000	0.61297	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.316	0.94199	872	0.31118	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	759.83	36	chr11	76513454	.	C	G	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.866;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	5	0	1	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	67.79	64	chr11	76795628	.	CCTG	C	67.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.992;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.141;SOR=0.804	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr11	77040152	77040152	C	T	exonic	B3GNT6	.	nonsynonymous SNV	B3GNT6:NM_138706:exon2:c.C601T:p.H201Y	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00564726144653	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916807620	6.219e-06	7.525e-06	2.752e-06	9.715e-06	8.117e-05	2.93e-06	2.12e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	8.997e-07	1.66e-05	8.117e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.015	0.61642	D	0.836	0.46303	P	0.366	0.43381	B	0.002991	0.35606	N	0.279124	0.973775	0.39051	D	2.3	0.65703	M	.	.	.	.	.	.	0.283	0.32037	-0.7827	0.56149	T	0.139	0.45640	T	10	0.3380911	0.50920	T	0.005647	0.14621	T	.	.	0.598	0.72862	0.395894371353	0.39203	0.6721951907526512	0.67157	.	.	0.77609705925	0.78339	T	0.060356	0.31366	T	-0.176287	0.24291	T	-0.309473	0.43716	T	0.920013725757599	0.57900	D	0.865113	0.56350	D	0.32901496	0.55390	0.496593	0.70889	0.32901496	0.55390	0.496593	0.70889	-8.582	0.64970	D	0.2440257969883037	0.33054	0.512	0.65136	A	.	.	3.827559	0.55303	23.6	0.99602761438727383	0.74338	0.84870	0.43963	D	AEFDBCI	0.390386	0.46924	N	0.212327681241837	0.51797	3.358126	0.17250151370201	0.48347	3.051761	0.999725024697252	0.42220	0.615755	0.39536	0	0.618376	0.53248	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.28	3.28	0.36691	0.042000	0.13834	2.569000	0.33354	0.520000	0.23804	0.877000	0.30928	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	12.828	0.57112	502	0.75873	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1543.83	33	chr11	77040152	.	C	T	1543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.331;DP=322;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.664;SOR=0.831	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	5	0	1	0
chr11	78465958	78465958	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon11:c.A401G:p.N134S,NARS2:NM_024678:exon11:c.A1082G:p.N361S	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	414	1097	11	0	0	11	0.00498866	.	.	.	713196	not_specified|NARS2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	0.0246044422804	0.0008	0.000399361	0.0015	0	0.0003	0	0.0005	0.0009	0.0044	0.0068	0.0012872	199	154602	rs150355410	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0068	0.0066	5.976e-05	0.0005	0.0038	0	0.0004	0.0033	0.0004	0.0010	0.0073	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	9.623e-05	0	0.0012	0.0026	0	0.0002	0.0034	0.0007	0.0005	0.0056	0.068	0.36310	T	0.056	0.46862	T	0.001	0.07471	B	0.009	0.14300	B	0.006470	0.32011	N	0.382752	0.924485	0.36776	D	0.87	0.21467	L	-1.84	0.84195	D	-1.14	0.29323	N	0.176	0.19593	-0.4542	0.70261	T	0.409	0.75810	T	10	0.008098215	0.00184	T	0.024604	0.47597	T	0.186	0.46104	.	.	0.647459595057	0.64453	0.4144245884794886	0.41358	0.0400337810157	0.04279	0.285364836454	0.08251	T	0.34181	0.75956	T	-0.469702	0.00854	T	-0.443046	0.28468	T	0.0222564231528155	0.00937	T	0.847515	0.55085	T	0.07305988	0.16298	0.058001664	0.10643	0.04312842	0.06665	0.051105518	0.08157	-5.742	0.44066	T	0.2106537040487836	0.28228	0.100	0.17317	B	.;.;.	.;.;.	1.454477	0.18762	13.91	0.88522829126518043	0.18043	0.77924	0.38373	D	AEFDGBCI	0.247440	0.36802	N	-0.472361943260293	0.22989	1.231411	-0.348210770589493	0.26564	1.468124	0.999991960091654	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.59	2.27	0.27501	2.491000	0.44961	0.922000	0.22712	-0.176000	0.10722	0.763000	0.29277	0.718000	0.26334	0.992000	0.67800	0.0:0.1694:0.0:0.8306	8.268	0.30984	668	0.61153	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.;Aminoacyl-tRNA synthetase, class II (D/K/N)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	945.83	35	chr11	78465958	.	T	C	945.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.384;DP=242;ExcessHet=0;FS=3.297;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.844;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	5	0	1	0
chr11	78658413	78658413	A	G	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.T7955C:p.I2652T	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0516012032973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.297	0.20551	T	0.501	0.37169	P	0.058	0.26451	B	0.000026	0.55875	N	0.119994	0.970165	0.38779	D	1.5	0.37844	L	-2.5	0.89219	D	-0.6	0.17834	N	0.106	0.09066	-0.2755	0.75662	T	0.454	0.78709	T	9	0.119888246	0.22698	T	0.051601	0.64730	D	0.279	0.59619	0.694	0.83126	0.110392049598	0.10638	0.38789296920661737	0.38704	0.352013665624	0.37038	0.689756691456	0.65671	T	0.094253	0.39379	T	-0.00710966	0.50668	T	-0.247989	0.50014	T	0.908971130847931	0.56373	D	0.840116	0.51512	T	0.10432148	0.24660	0.104492694	0.25098	0.10432148	0.24660	0.104492694	0.25097	-4.194	0.26665	T	0.12574580119496806	0.12567	0.306	0.53487	B	.	.	2.540064	0.32855	19.17	0.38074288237269294	0.02547	0.90784	0.52254	D	AEFDBI	0.497708	0.53212	N	0.00792381080437241	0.42216	2.539384	0.143081232903301	0.46777	2.918172	0.954372008485592	0.28128	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.52	0.54797	3.893000	0.55955	6.203000	0.54917	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9306:0.0:0.0694:0.0	11.517	0.49777	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6713.06	36	chr11	78658413	.	A	G	6713.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.33;DP=665;ExcessHet=0.4139;FS=1.095;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.021;SOR=0.8	GT:AD:DP:GQ:PL	0/1:139,126:265:99:3230,0,3570	4	0	2	0
chr11	78670022	78670022	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.A6323G:p.Y2108C	Tremor, hereditary essential, 5, Autosomal dominant	421	1094	7	0	0	7	0.00318907	.	.	.	973819	Tremor,_hereditary_essential,_5|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.193454303888	8e-05	.	0.0003	0.0001	0.0004	0	0	0.0002	0.0045	0.0005	0.0002393	37	154602	rs199597334	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	0.0003	3.826e-05	0	1.873e-05	0.0016	0.0001	0.0004	0.0007	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	9.242e-05	0.0003	0.0002	9.653e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0008	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.555	0.74557	M	-2.73	0.90679	D	-7.67	0.96317	D	0.946	0.95374	0.796	0.94359	D	0.832	0.94376	D	9	0.8593582	0.85148	D	0.193454	0.86304	D	0.859	0.95691	.	.	0.855755013898	0.85436	0.6582113387227471	0.65758	1.08233471969	0.77171	0.906079351902	0.97086	D	0.769416	0.93816	D	0.211622	0.74984	D	0.422581	0.92827	D	0.841276109218597	0.49432	D	1.000	0.99817	D	0.84473985	0.86949	0.77236474	0.86563	0.84473985	0.86951	0.77236474	0.86564	-12.072	0.85200	D	0.6492023433362442	0.72108	0.565	0.69390	P	.;.	.;.	5.643354	0.92759	33	0.99792230011611927	0.87750	0.97654	0.76186	D	AEFDGBI	0.935161	0.92960	D	0.721000088859149	0.81010	7.422873	0.674235804161141	0.80426	7.296413	0.999976972244521	0.50053	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.69	4.69	0.58546	8.017000	0.88732	7.950000	0.75812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.624	0.68208	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2239.83	34	chr11	78670022	.	T	C	2239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.35;SOR=0.719	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	5	0	1	0
chr11	82932519	82932519	C	T	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.C1181T:p.S394L,DDIAS:NM_145018:exon6:c.C1181T:p.S394L	.	428	1086	8	0	0	8	0.00366972	.	.	.	3661903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0194978454767	.	.	0.0003	0	0	0	0	0	0.0011	0.0019	0.0002135	33	154602	rs140627913	0.0001	0.0001	4.764e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	0	0	0	2.519e-05	0	0.0007	4.496e-06	0.0001	0.0019	7.222e-05	7.218e-05	5.14e-05	9.398e-05	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.003	0.68238	D	0.113	0.36901	T	0.999	0.77913	D	0.88	0.62516	P	0.266510	0.15211	N	0.606911	1	0.81001	D	.	.	.	0.89	0.45636	T	-4.06	0.74582	D	0.117	0.10626	-0.8413	0.52560	T	0.207	0.56553	T	9	0.022558123	0.00566	T	0.019498	0.41878	T	0.207	0.49555	0.257	0.19845	0.39694197178	0.39312	0.12593667477936668	0.12519	0.0339437621462	0.03563	.	.	.	0.078317	0.35863	T	-0.406959	0.02083	T	-0.364608	0.37517	T	0.199211552739143	0.20372	T	0.650435	0.26116	T	0.15718736	0.35432	0.2153233	0.46116	0.15718736	0.35432	0.2153233	0.46115	-4.19	0.26607	T	.	.	0.080	0.07985	B	.;.	.;.	1.201597	0.15936	12.21	0.38069310740091578	0.02546	0.68076	0.33666	D	AEFGBI	0.141346	0.26349	N	-0.0155255940065112	0.41152	2.456498	-0.182020413323913	0.32197	1.829415	0.999519582842014	0.40117	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	4.71	0.59010	1.935000	0.39802	0.369000	0.17657	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.007000	0.07825	0.0:0.926:0.0:0.074	13.193	0.59145	578	0.69858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2400.83	33	chr11	82932519	.	C	T	2400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=369;ExcessHet=0;FS=3.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.117;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1377	5	0	1	0
chr11	83285959	83285959	T	C	exonic	CCDC90B	.	nonsynonymous SNV	CCDC90B:NM_021825:exon1:c.A14G:p.Q5R	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00179712	0.0086	0.0017	0.0041	0	0.0261	0.0108	0.0106	0.0062	0.0064747	1001	154602	rs144749516	0.0072	0.0072	0.0073	0.0072	0.0106	0.0071	0.0071	0.0085	0.0077	0.0009	0.0031	0.0260	5.05e-05	0.0171	0.0106	0.0071	0.0078	0.0052	0.0061	0.0061	0.0056	0.0067	0.0073	0.0058	0.0057	0.0068	0.0066	0.0013	0	0.0024	0.0311	0.0002	0.0176	0.0068	0.0073	0.0052	0.0070	0.944	0.02767	T	0.515	0.11115	T	0.0	0.02946	B	0.0	0.01387	B	0.293906	0.03912	N	1.404180	0.86284	0.35419	D	-0.345	0.03330	N	1.6	0.29866	T	0.01	0.07736	N	0.055	0.04188	-1.0374	0.18109	T	0.028	0.12058	T	9	0.0029465258	0.00048	T	.	.	.	0.099	0.28413	.	.	0.149567049428	0.14543	0.21662631799472365	0.21578	0.0230896794622	0.02335	0.306394517422	0.11363	T	0.003364	0.02768	T	-0.527411	0.00398	T	-0.519335	0.20361	T	0.00392486475086559	0.00042	T	0.29547	0.05467	T	0.0334613	0.03570	0.060188286	0.11420	0.0334613	0.03570	0.060188286	0.11419	-3.808	0.20924	T	.	.	0.054	0.01408	B	.;.	.;.	0.263676	0.06420	2.889	0.60334667938948594	0.06438	0.00218	0.01233	N	ALL	0.038003	0.05312	N	-1.06331832002294	0.07328	0.3400958	-0.974073503520917	0.10369	0.5218358	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	4.37	0.51830	1.240000	0.32334	0.117000	0.14863	-1.073000	0.01588	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9064:0.0:0.0936	10.200	0.42252	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.008152	0.017544	0.100000	0.000000	0.009259	0.003788	0.08333	1286.83	35	chr11	83285959	.	T	C	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=304;ExcessHet=0;FS=3.36;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.289;SOR=0.778	GT:AD:DP:GQ:PL	0/1:60,57:117:99:1297,0,1480	5	0	1	0
chr11	85718996	85718996	T	-	exonic	SYTL2	.	frameshift deletion	SYTL2:NM_001365835:exon1:c.44delA:p.K15Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.8	18	chr11	85718995	.	CT	C	39.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=72;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-1.309;SOR=0.027	GT:AD:DP:GQ:PL	0/0:12,0:12:30:0,30,450	5	0	1	0
chr11	87067703	87067703	A	T	exonic	TMEM135	.	nonsynonymous SNV	TMEM135:NM_001168724:exon2:c.A151T:p.I51F,TMEM135:NM_022918:exon2:c.A151T:p.I51F	.	1	1520	0	1	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.031776308826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.63226	T	0.017	0.79402	D	0.573	0.38659	P	0.143	0.37000	B	0.000310	0.45977	D	0.189836	0.999062	0.81001	D	2.295	0.65404	M	0.81	0.50459	T	-2.15	0.49187	N	0.817	0.81261	-0.9860	0.33590	T	0.145	0.46932	T	9	0.19759062	0.35696	T	0.031776	0.53776	D	0.236	0.53931	0.522	0.62518	0.293707238958	0.28979	0.8557356895610023	0.85536	0.684027731874	0.60199	0.567782044411	0.48364	T	0.108355	0.42132	T	0.053006	0.58730	T	-0.161637	0.58204	T	0.679380774497986	0.39760	D	0.818018	0.47523	T	0.20769368	0.42983	0.27266556	0.53179	0.20769368	0.42983	0.27266556	0.53178	-5.083	0.39884	T	.	.	0.174	0.40360	B	.;.;.;.	.;.;.;.	3.080621	0.41440	21.4	0.85813182023116685	0.16129	0.85533	0.44675	D	AEFBI	0.290775	0.40207	N	-0.253518188641935	0.30963	1.731535	-0.273926097087287	0.28961	1.618802	1.00536927717452E-4	0.04910	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.29	1.69	0.23290	3.734000	0.54760	3.075000	0.36216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6937:0.1476:0.1587:0.0	5.458	0.15896	835	0.38313	.;Transmembrane protein 135, N-terminal domain;Transmembrane protein 135, N-terminal domain;Transmembrane protein 135, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	35	chr11	87067703	.	A	T	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.554;DP=239;ExcessHet=0;FS=0.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.123;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	5	0	1	0
chr11	90086048	90086050	GTT	-	exonic	UBTFL1	.	nonframeshift deletion	UBTFL1:NM_001143975:exon1:c.99_101del:p.F34del	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.403e-06	1.379e-06	0	2.817e-06	2.363e-05	2.3e-07	9e-08	3.92e-06	1.47e-06	0	0	0	0	0	0	0	0	2.363e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1950.79	33	chr11	90086047	.	CGTT	C	1950.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=369;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.083;MQ=41.64;MQRankSum=-5.397;QD=17.57;ReadPosRankSum=-1.801;SOR=0.767	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	5	0	1	0
chr11	92800389	92800389	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A7376G:p.Q2459R,FAT3:NM_001367949:exon10:c.A7376G:p.Q2459R	.	432	1086	4	0	0	4	0.00183824	.	.	.	2813662	not_provided|FAT3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.298	0.0186122392787	0.0044	0.00139776	0.0032	0.0010	0.0007	0	0.0011	0.0052	0.0011	0.0004	0.0034023	526	154602	rs118056487	0.0051	0.0051	0.0052	0.0050	0.0062	0.0050	0.0050	0.0061	0.0061	0.0009	0.0010	0.0039	2.52e-05	0.0015	0.0010	0.0062	0.0036	0.0004	0.0032	0.0031	0.0035	0.0027	0.0053	0.0029	0.0028	0.0049	0.0047	0.0010	0	0.0032	0.0035	0	0.0011	0	0.0053	0.0005	0.0004	0.664	0.04757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998595	0.45136	D	-1.105	0.00963	N	1.16	0.38073	T	-0.69	0.20145	N	0.609	0.65245	-0.9611	0.38974	T	0.049	0.20908	T	9	0.011182457	0.00246	T	0.018612	0.40730	T	0.298	0.61843	.	.	0.627396708286	0.62436	0.40443235341498107	0.40359	.	.	0.61015021801	0.54337	T	0.028454	0.20609	T	-0.328659	0.06214	T	-0.240026	0.50796	T	0.039666963874011	0.03630	T	.	.	.	0.09794656	0.23094	0.11483706	0.27721	0.09794656	0.23094	0.11483706	0.27720	-4.568	0.31767	T	.	.	0.145	0.31857	B	.;.	.;.	3.214525	0.43774	21.8	0.99579087464316673	0.72861	0.98153	0.80057	D	AEFBI	0.926340	0.90729	D	0.243054584716182	0.53296	3.499136	0.35420808389342	0.58763	4.048764	0.996300357473739	0.34656	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.95	4.81	0.61401	7.393000	0.79126	7.076000	0.57456	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8688:0.1312:0.0:0.0	13.403	0.60340	906	0.23090	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.08333	1433.83	132	chr11	92800389	.	A	G	1433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.606;DP=676;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=2.3;SOR=0.644	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	5	0	1	0
chr11	94104605	94104605	C	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon16:c.C2760A:p.D920E	.	439	1030	50	3	0	56	0.026465	.	.	.	3213399	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.573	.	0.0035	0.00579073	0.0081	0.0005	0.0039	0.0001	0.0082	0.0060	0.0156	0.0277	0.0071539	1106	154602	rs148114445	0.0066	0.0066	0.0058	0.0074	0.0279	0.0065	0.0065	0.0270	0.0266	0.0008	0.0034	0.0158	0.0001	0.0094	0.0125	0.0051	0.0077	0.0279	0.0047	0.0047	0.0044	0.0050	0.0266	0.0044	0.0043	0.0229	0.0214	0.0004	0	0.0031	0.0150	0.0004	0.0098	0.0238	0.0051	0.0057	0.0266	0.251	0.17069	T	0.421	0.14075	T	0.955	0.54515	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	0.864956	0.28297	N	2.56	0.74772	M	-5.07	0.98648	D	-0.93	0.24898	N	0.458	0.49511	0.667	0.92763	D	0.858	0.95278	D	10	0.0048802793	0.00104	T	.	.	.	0.573	0.82686	0.373	0.38503	0.312001716656	0.30816	0.649742882392639	0.64910	0.264314548464	0.28980	0.54286056757	0.44850	T	0.008359	0.07680	T	-0.169378	0.25330	T	0.00487325	0.70652	D	0.0454317492620898	0.04681	T	0.763224	0.38939	T	0.11625681	0.27423	0.12888005	0.30998	0.11625681	0.27423	0.12888005	0.30997	-7.378	0.56750	T	.	.	0.717	0.73646	P	.	.	1.523259	0.19552	14.32	0.99176371962165932	0.54556	0.63278	0.32040	D	AEFBI	0.270150	0.38628	N	-0.500907730539434	0.22051	1.174723	-0.612804354904618	0.19165	1.027009	0.400691816930855	0.20128	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.66	-1.63	0.07900	-0.267000	0.08648	-1.019000	0.06586	-0.170000	0.11276	0.545000	0.27306	0.000000	0.08366	0.948000	0.49324	0.0:0.3992:0.0:0.6008	11.957	0.52272	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.034091	0.1667	2218.04	35	chr11	94104605	.	C	A	2218.04	.	AC=2;AF=0.167;AN=12;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.69;SOR=1.329	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1347	5	1	0	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.08333	1146.83	35	chr11	94528131	.	G	A	1146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.446;DP=301;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.821;SOR=0.989	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1157,0,1483	5	0	1	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.08333	1274.83	33	chr11	94589192	.	G	A	1274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=297;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.452;SOR=0.785	GT:AD:DP:GQ:PL	0/1:75,53:128:99:1285,0,1768	5	0	1	0
chr11	95835367	95835367	A	G	exonic	MTMR2	.	nonsynonymous SNV	MTMR2:NM_016156:exon15:c.T1855C:p.S619P,MTMR2:NM_201281:exon16:c.T1639C:p.S547P,MTMR2:NM_201278:exon17:c.T1639C:p.S547P,MTMR2:NM_001243571:exon18:c.T1639C:p.S547P	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive	1	1477	40	4	0	48	0.0159893	.	.	.	231812	MTMR2-related_disorder|Charcot-Marie-Tooth_disease_type_4B1|not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4	.|MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.000000	0.050000	0.000000	0.009146	0.011364	0.08333	798.83	38	chr11	95835367	.	A	G	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=215;ExcessHet=0;FS=2.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.959;SOR=0.493	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1060	5	0	1	0
chr11	96092211	96092237	TGCTGCTGCTGCTGCTGCTGCTGCTGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1794_1820del:p.Q613_Q621del	Mucoepidermoid salivary gland carcinoma (3)	523	84	111	621	183	1536	0.889546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316	.	0.0081	0.0011	0	0	0.0008	0.0100	0	0.0104	0.0016106	249	154602	rs781325682	0.0051	0.0048	0.0049	0.0053	0.0121	0.0050	0.0050	0.0097	0.0089	0.0007	0.0015	0.0150	0	0.0006	0.0121	0.0051	0.0062	0.0091	0.0039	0.0038	0.0041	0.0037	0.0087	0.0036	0.0035	0.0066	0.0059	0.0006	0.0629	0.0015	0.0145	0	0.0003	0.0103	0.0056	0.0020	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18150.3	75	chr11	96092210	.	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	T	18150.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.677;DP=720;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.54;ReadPosRankSum=1.54;SOR=0.16	GT:AD:DP:GQ:PL	0/0:1,0:90:99:3384,3433,3545	5	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.08333	1952.83	179	chr11	96384356	.	C	T	1952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.443;DP=368;ExcessHet=0;FS=2.677;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.036;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	5	0	1	0
chr11	102331119	102331119	G	A	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.G1202A:p.R401K,BIRC3:NM_182962:exon7:c.G1202A:p.R401K	.	438	1053	29	2	0	33	0.0154278	.	.	.	701528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00581824617469	0.0060	0.00379393	0.0059	0.0016	0.0025	0	0.0003	0.0090	0.0011	0.0038	0.0060154	930	154602	rs17881197	0.0082	0.0083	0.0084	0.0081	0.0149	0.0081	0.0081	0.0124	0.0114	0.0018	0.0031	0.0172	2.525e-05	0.0011	0.0149	0.0094	0.0076	0.0042	0.0054	0.0054	0.0059	0.0049	0.0082	0.0051	0.0050	0.0076	0.0074	0.0017	0	0.0082	0.0138	0	0.0005	0.0034	0.0082	0.0033	0.0025	0.152	0.24468	T	0.972	0.02471	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.145662	0.961759	0.26094	N	1.04	0.26193	L	2.07	0.20387	T	-0.25	0.11008	N	0.094	0.12055	-1.0247	0.22181	T	0.020	0.08500	T	10	0.006362766	0.00144	T	0.005818	0.15131	T	0.071	0.20720	.	.	0.435704348906	0.43193	0.40042119535168097	0.39957	0.29034342778	0.31437	0.306683242321	0.11406	T	0.07694	0.35537	T	-0.584895	0.00180	T	-0.601906	0.12652	T	0.01499739911791	0.00322	T	0.775222	0.40690	T	0.20565298	0.42714	0.16079606	0.37434	0.20565298	0.42713	0.16079606	0.37433	-3.354	0.14444	T	.	.	0.086	0.10449	B	.;.;.	.;.;.	3.123896	0.42190	21.5	0.96012916723923669	0.28451	0.90447	0.51630	D	AEFBCI	0.766927	0.70296	D	-0.401411524183567	0.25421	1.379769	-0.209592202056092	0.31189	1.762884	0.999934364952795	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.19	4.28	0.50183	6.630000	0.74133	7.575000	0.60810	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0741:0.0:0.9259:0.0	13.686	0.61996	789	0.46346	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013092	0.010101	0.012228	0.023392	0.000000	0.017241	0.003049	0.003788	0.08333	460.83	33	chr11	102331119	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=236;ExcessHet=0;FS=3.809;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.859;SOR=1.066	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr11	102527598	102527598	C	T	exonic	MMP7	.	nonsynonymous SNV	MMP7:NM_002423:exon3:c.G410A:p.G137D	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0004	0.0217652	0.0083	0.0005	0.0010	0.1019	0.0003	0.0002	0.0044	0.0053	0.0077683	1201	154602	rs17884789	0.0035	0.0035	0.0034	0.0036	0.1014	0.0034	0.0034	0.0988	0.0977	0.0002	0.0004	0.0013	0.1014	0.0001	0.0016	0.0001	0.0065	0.0055	0.0042	0.0042	0.0036	0.0047	0.0999	0.0039	0.0038	0.0928	0.0900	0.0005	0	0.0009	0.0029	0.0999	0	0	0.0001	0.0038	0.0118	0.002	0.72154	D	0.022	0.57587	D	0.755	0.43381	P	0.29	0.40682	B	0.000574	0.43250	D	0.100673	0.617968	0.30804	N	0.895	0.22405	L	0.76	0.49919	T	-0.05	0.07736	N	0.356	0.39760	-1.1095	0.03113	T	0.003	0.01026	T	10	0.00285694	0.00046	T	.	.	.	0.084	0.24469	.	.	0.781328695101	0.77931	0.5552612333564311	0.55453	0.0936467144029	0.10581	0.404724001884	0.25725	T	0.055526	0.30031	T	-0.469537	0.00856	T	-0.360381	0.38009	T	0.0431197826253554	0.04260	T	0.430157	0.11673	T	0.73265904	0.79874	0.3842117	0.63367	0.73265904	0.79876	0.3842117	0.63367	-6.016	0.46414	T	.	.	0.31	0.53762	B	.	.	3.692235	0.52612	23.3	0.99815279847645877	0.89885	0.92850	0.56698	D	AEFBI	0.595918	0.59028	D	0.114261674018122	0.47127	2.942852	0.203255010471569	0.50028	3.199187	0.990605104962491	0.32208	0.643511	0.44296	0	0.588066	0.40923	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.85	4.85	0.62375	2.921000	0.48549	4.001000	0.41074	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.692000	0.33898	0.0:1.0:0.0:0.0	17.960	0.89003	759	0.50631	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	1220.83	41	chr11	102527598	.	C	T	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.444;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.535;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1231,0,1109	5	0	1	0
chr11	102721650	102721650	C	A	exonic	MMP8	.	stopgain	MMP8:NM_002424:exon3:c.G460T:p.G154X,MMP8:NM_001304441:exon4:c.G391T:p.G131X,MMP8:NM_001304442:exon4:c.G391T:p.G131X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.000599042	0.0003	0	0	0.0030	0	0	0	0.0003	0.0002199	34	154602	rs199670970	9.716e-05	9.713e-05	8.714e-05	0.0001	0.0029	8.378e-05	7.917e-05	0.0024	0.0023	0	0	0	0.0029	0	0	1.799e-06	0.0001	0.0002	9.195e-05	9.843e-05	5.14e-05	0.0001	0.0013	5.525e-05	4.363e-05	0.0006	0.0004	0	0	6.543e-05	0	0.0013	0	0	0	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.354182	0.13769	N	0.671285	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.668	0.67650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0475077	0.58021	T	0.291787	0.87782	D	0.253971532981789	0.23050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.580398	0.92297	32	0.9860791459181093	0.43598	0.34615	0.25109	N	AEFGBHCI	0.120755	0.23509	N	0.314519137930706	0.56894	3.854882	-0.018701929632485	0.38871	2.296371	0.0135816936597748	0.12484	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	2.68	0.30839	0.117000	0.15414	-0.662000	0.07976	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.6549:0.0:0.3451	9.373	0.37428	707	0.57054	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic 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	.	.	.	.	.	.	.	.	0.08333	1985.83	46	chr11	102721650	.	C	A	1985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.307;DP=349;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.8;SOR=0.862	GT:AD:DP:GQ:PL	0/1:63,82:145:99:1996,0,1603	5	0	1	0
chr11	103479095	103479095	G	C	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon89:c.G12766C:p.D4256H,DYNC2H1:NM_001080463:exon90:c.G12787C:p.D4263H	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	1	1520	1	0	0	1	0.000328839	0.5384	0.588	.	492654	not_provided|Jeune_thoracic_dystrophy|Asphyxiating_thoracic_dystrophy_3	MedGen:C3661900|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0170763691293	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772516163	4.79e-06	4.788e-06	5.447e-06	4.127e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	8.961e-05	0	0	0	0	0.0007	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.012	0.91255	D	0.033	0.53072	D	0.248	0.68779	B	0.601	0.71005	P	0.870741	0.08827	N	0.943532	0.837223	0.35009	D	2.34	0.67151	M	3.09	0.08371	T	-3.44	0.75537	D	0.125	0.23632	-1.0857	0.06281	T	0.055	0.23300	T	9	0.1868729	0.34172	T	0.017076	0.38630	T	0.125	0.34456	0.48	0.55983	0.477994580393	0.47429	0.3398666242261746	0.33899	0.0745681638047	0.08366	0.293778598309	0.09476	T	0.270299	0.64255	T	-0.213687	0.18864	T	-0.544723	0.17836	T	0.44863704959715	0.30747	T	0.835616	0.51702	T	0.11633855	0.27441	0.16834587	0.38787	0.11633855	0.27441	0.16834587	0.38786	-4.535	0.34973	T	0.3420544577288403	0.43975	0.166	0.39949	B	.;.;.;.;.;.	.;.;.;.;.;.	3.343639	0.46082	22.2	0.75570369137493587	0.11126	0.86888	0.46270	D	AEFDHI	0.285361	0.39800	N	0.00861585994484434	0.42246	2.541855	-0.0470962480641454	0.37616	2.204896	0.00723208233908268	0.11417	0.743674	0.98306	0	0.573888	0.26702	0	0.630245	0.45026	0	0.567892	0.33627	0	.	.	4.8	3.89	0.44098	2.080000	0.41211	.	.	0.618000	0.50648	0.999000	0.42656	0.999000	0.35428	0.009000	0.08673	0.1602:0.1478:0.692:0.0	6.611	0.21948	860	0.33753	Dynein heavy chain domain;.;Dynein heavy chain domain;.;.;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	950.83	55	chr11	103479095	.	G	C	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.219;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-1.077;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	5	0	1	0
chr11	104037965	104037965	C	A	exonic	DDI1	.	nonsynonymous SNV	DDI1:NM_001001711:exon1:c.C1143A:p.D381E	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00637057835506	.	0.000599042	0.0009	0	0.0003	0	0	0.0003	0.0011	0.0051	0.000705	109	154602	rs144680864	0.0006	0.0006	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	8.961e-05	0.0003	7.652e-05	0	3.744e-05	0.0026	0.0003	0.0006	0.0053	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0007	0	0	0	0	0.0004	0.0009	0.0048	0.115	0.28520	T	0.288	0.21144	T	0.77	0.43887	P	0.345	0.42592	B	0.000614	0.42945	D	0.186877	1	0.08975	N	2.215	0.62545	M	1.95	0.22474	T	-0.83	0.22727	N	0.052	0.02366	-1.0584	0.12159	T	0.049	0.20789	T	10	0.008690834	0.00197	T	0.006371	0.16754	T	0.066	0.19193	0.182	0.09004	0.289474373501	0.28556	0.3500023947828932	0.34914	0.383896752763	0.39705	0.287356495857	0.08538	T	0.003581	0.02990	T	-0.661671	0.00061	T	-0.721854	0.04706	T	0.0334122332517843	0.02539	T	0.320168	0.06459	T	0.04294184	0.06603	0.041064538	0.04583	0.04294184	0.06603	0.041064538	0.04583	-3.19	0.12358	T	.	.	0.068	0.02670	B	.	.	0.111971	0.05110	1.643	0.9415990770344681	0.24365	0.07064	0.13090	N	AEFDI	.	.	.	-0.536871656519424	0.20897	1.10505	-0.731749175833739	0.16172	0.8542295	5.61482114078794E-4	0.07335	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.97	-0.368	0.11913	-0.698000	0.05194	.	.	-0.190000	0.09434	0.001000	0.13787	0.010000	0.20010	0.013000	0.09966	0.1734:0.4304:0.0:0.3962	3.505	0.07248	914	0.21048	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	934.83	36	chr11	104037965	.	C	A	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.365;DP=400;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.485;SOR=0.715	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	5	0	1	0
chr11	104163839	104163839	A	G	exonic	PDGFD	.	nonsynonymous SNV	PDGFD:NM_025208:exon1:c.T89C:p.I30T,PDGFD:NM_033135:exon1:c.T89C:p.I30T	.	.	.	.	.	.	.	.	.	.	.	4040718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00471433378379	.	.	8.267e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs751107412	7.75e-06	8.893e-06	2.784e-06	1.284e-05	0.0001	4.16e-06	3.04e-06	3.507e-05	2.121e-05	0	0	0	0.0001	0	0	3.699e-06	3.445e-05	1.232e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.09	0.32296	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.04355	B	0.108409	0.19528	N	0.470987	0.932569	0.27018	N	0.55	0.14455	N	1.73	0.26445	T	-0.85	0.33798	N	0.214	0.23884	-1.0186	0.24171	T	0.031	0.13242	T	10	0.10015318	0.18221	T	0.004714	0.11722	T	0.027	0.05988	0.419	0.46036	0.418467456957	0.41465	0.4411870516030682	0.44035	0.246762907825	0.27210	0.517827570438	0.41320	T	0.141659	0.47684	T	-0.39157	0.02628	T	-0.627782	0.10584	T	0.0271182915980286	0.01562	T	0.60154	0.22486	T	0.054387987	0.10428	0.04996922	0.07746	0.054387987	0.10427	0.04996922	0.07745	-2.887	0.09014	T	.	.	0.588	0.68391	P	.;.	.;.	2.360405	0.30275	18.39	0.82991554774797549	0.14484	0.62552	0.31816	D	ALL	0.292575	0.40341	N	-0.703322383106922	0.15928	0.807101	-0.556331993778513	0.20638	1.112812	0.999967671884651	0.48965	0.627647	0.40530	0	0.609123	0.50646	0	0.64067	0.45733	0	0.657601	0.63696	0	.	.	4.74	2.43	0.28797	2.566000	0.45611	5.939000	0.51448	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.8172:0.0:0.1828:0.0	7.075	0.24378	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2126.83	136	chr11	104163839	.	A	G	2126.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.01;DP=315;ExcessHet=0;FS=1.389;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.007;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	5	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	446.8	129	chr11	106010659	.	C	T	446.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.161;DP=813;ExcessHet=1.383;FS=238.988;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.99;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:106010659_C_T:101,0,3237:106010659	2	0	3	1
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	756.44	129	chr11	106010660	.	C	G	756.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-3.078;DP=816;ExcessHet=3.1439;FS=243.716;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.98;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:106010659_C_T:101,0,3237:106010659	1	0	4	1
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	970.83	33	chr11	108304736	.	A	T	970.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=278;ExcessHet=0;FS=1.678;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.05;SOR=0.913	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr11	108482164	108482164	C	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363503:exon4:c.G743A:p.R248Q,POGLUT3:NM_153705:exon4:c.G743A:p.R248Q	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0037	0.00139776	0.0038	0.0009	8.646e-05	0	0.0077	0.0053	0.0056	0.0026	0.0037774	584	154602	rs186063712	0.0045	0.0045	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0006	0.0003	0.0067	0	0.0083	0.0010	0.0049	0.0035	0.0027	0.0035	0.0035	0.0034	0.0036	0.0054	0.0032	0.0031	0.0050	0.0048	0.0006	0	0.0001	0.0061	0	0.0082	0	0.0054	0.0028	0.0033	0.088	0.32296	T	0.166	0.31225	T	0.806	0.45231	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.98	0.21865	T	-1.8	0.42384	N	0.612	0.62866	-1.0978	0.04367	T	0.047	0.20116	T	10	0.006697327	0.00152	T	.	.	.	0.119	0.33137	.	.	0.330589388543	0.32661	0.7326316064024624	0.73208	0.759004592836	0.64143	0.3074670434	0.11525	T	0.008436	0.07749	T	-0.295377	0.09102	T	-0.19292	0.55316	T	0.0369718364538798	0.03151	T	0.848615	0.53011	T	0.4207075	0.62139	0.31173235	0.57179	0.4207075	0.62139	0.31173235	0.57178	-9.151	0.68664	D	.	.	0.094	0.16143	B	.;.	.;.	4.086770	0.60831	24.3	0.99934380038121418	0.99535	0.95489	0.64924	D	AEFBI	0.642920	0.61972	D	0.351084018428282	0.58796	4.054221	0.427423632869112	0.63278	4.558581	0.999696438630859	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.31	4.37	0.51830	3.444000	0.52678	2.465000	0.32872	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.595	0.67993	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1667	1061.06	35	chr11	108482164	.	C	T	1061.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.77;DP=248;ExcessHet=0.4139;FS=0.744;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.621;SOR=0.777	GT:AD:DP:GQ:PL	0/1:35,20:55:99:449,0,884	4	0	2	0
chr11	108482219	108482219	G	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363503:exon4:c.C688A:p.L230I,POGLUT3:NM_153705:exon4:c.C688A:p.L230I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00260835985045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279112721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.469	0.08534	T	0.404	0.14818	T	0.008	0.14655	B	0.026	0.20792	B	0.311028	0.14433	N	0.690632	0.999987	0.18198	N	.	.	.	1.98	0.21865	T	-0.53	0.16393	N	0.262	0.29659	-0.9838	0.34116	T	0.025	0.10910	T	10	0.12835342	0.24415	T	0.002608	0.05292	T	0.031	0.07369	0.367	0.37524	0.226586394389	0.22295	0.35989462459512817	0.35903	0.195636061854	0.21915	0.26440730691	0.05427	T	0.002973	0.02370	T	-0.274442	0.11266	T	-0.631993	0.10265	T	0.118982918560505	0.14330	T	0.770923	0.40735	T	0.06131424	0.12681	0.03842408	0.03707	0.06131424	0.12681	0.03842408	0.03706	-4.562	0.31690	T	.	.	0.069	0.03093	B	.;.	.;.	2.379848	0.30549	18.47	0.94164025009157093	0.24372	0.82276	0.41528	D	AEFBI	0.163918	0.29025	N	-0.666981227674585	0.16968	0.8691289	-0.493805723636809	0.22323	1.211949	0.00658832009138818	0.11256	0.744818	0.98587	0	0.653731	0.59785	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.31	0.981	0.18875	2.435000	0.44469	2.861000	0.35203	-0.163000	0.11536	0.977000	0.34929	1.000000	0.68203	0.937000	0.47636	0.0:0.2375:0.5033:0.2592	10.282	0.42726	740	0.53092	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	312.83	35	chr11	108482219	.	G	T	312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.355;DP=179;ExcessHet=0;FS=6.68;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.568;SOR=0.12	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1403	5	0	1	0
chr11	108917908	108917910	TGA	-	exonic	DDX10	.	nonframeshift deletion	DDX10:NM_004398:exon17:c.2340_2342del:p.D788del	.	450	1043	1	0	28	29	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185	.	0.0040	0.0022	0.0037	0.0032	0.0018	0.0036	0.0033	0.0083	0.00315	487	154602	rs756833840	0.0005	0.0070	0.0005	0.0005	0.0039	0.0005	0.0005	0.0025	0.0021	0.0002	0.0003	0	0.0003	7.643e-05	0.0039	0.0005	0.0007	0.0014	0.0002	0.0003	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0002	0	0.0003	0	0.0004	0	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	807.79	39	chr11	108917907	.	GTGA	G	807.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=186;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=1.34;SOR=0.399	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,998	5	0	1	0
chr11	110164704	110164704	A	G	exonic	ZC3H12C	.	nonsynonymous SNV	ZC3H12C:NM_033390:exon6:c.A1619G:p.N540S	.	439	1076	7	0	0	7	0.00324224	.	.	.	4095645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00690392620275	.	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs558671932	9.715e-05	9.782e-05	9.257e-05	0.0001	0.0031	8.377e-05	7.916e-05	0.0020	0.0017	8.961e-05	0	0	0	0	0.0031	7.465e-05	0.0002	0.0003	9.198e-05	9.193e-05	6.422e-05	0.0001	0.0002	5.527e-05	4.364e-05	0.0001	7.894e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.817	0.45613	P	0.164	0.34953	B	0.000551	0.43413	D	0.274240	0.716046	0.33568	D	1.065	0.27018	L	1.7	0.27032	T	0.35	0.04456	N	0.564	0.58798	-1.0455	0.15680	T	0.035	0.15074	T	10	0.11806816	0.22313	T	0.006904	0.18261	T	0.123	0.34020	.	.	0.043077524339	0.03247	0.20942354367110386	0.20858	1.14515509009	0.79054	0.530146837234	0.43055	T	0.012722	0.11134	T	-0.397355	0.02409	T	-0.508225	0.21499	T	0.0634698793292046	0.07703	T	0.89721	0.64041	D	0.050415944	0.09105	0.07629695	0.16885	0.050415944	0.09104	0.07629695	0.16884	-2.276	0.04425	T	.	.	0.064	0.02765	B	.;.;.	.;.;.	1.946894	0.24726	16.50	0.16119926022004552	0.00420	0.83769	0.42866	D	AEFGBCI	0.455323	0.50765	N	0.012347756017846	0.42415	2.555244	0.19924976101766	0.49805	3.179509	0.642288801811135	0.22065	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	6.424000	0.73282	9.379000	0.80502	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.248	0.82284	601	0.67921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	2667.83	34	chr11	110164704	.	A	G	2667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=478;ExcessHet=0;FS=0.499;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.198;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr11	111737492	111737492	T	A	exonic	PPP2R1B	.	nonsynonymous SNV	PPP2R1B:NM_181700:exon13:c.A1675T:p.N559Y,PPP2R1B:NM_181699:exon15:c.A1867T:p.N623Y	Lung cancer, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	2809843	PPP2R1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	0.0076	0.00199681	0.0057	0.0026	0.0044	0	0.0029	0.0086	0.0077	0.0007	0.0060995	943	154602	rs61756429	0.0073	0.0074	0.0074	0.0073	0.0163	0.0072	0.0072	0.0136	0.0126	0.0021	0.0050	0.0020	0	0.0036	0.0163	0.0087	0.0069	0.0009	0.0064	0.0064	0.0066	0.0062	0.0103	0.0061	0.0059	0.0096	0.0094	0.0025	0.0252	0.0058	0.0009	0	0.0031	0.0204	0.0103	0.0071	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.965	0.56013	D	0.66	0.52803	P	0.243438	0.15662	N	0.617749	0.828419	0.35492	D	.	.	.	.	.	.	-0.6	0.17834	N	0.412	0.50327	-1.0335	0.19332	T	0.069	0.28180	T	9	0.0037582517	0.00070	T	.	.	.	0.094	0.27141	.	.	0.473616572423	0.46988	0.22862141231157473	0.22777	0.340094388157	0.35952	0.491730928421	0.37679	T	.	.	.	-0.359734	0.04145	T	-0.280114	0.46792	T	0.0228719775258281	0.01009	T	0.693531	0.30321	T	.	.	.	.	.	.	.	.	-4.111	0.26679	T	.	.	0.078	0.06942	B	.;.	.;.	2.370131	0.30412	18.43	0.98138998197519878	0.38588	0.76163	0.37334	D	AEFDGBHCI	0.205005	0.33140	N	0.0101333165650002	0.42315	2.54729	0.0417641372417915	0.41674	2.507797	0.999999981257004	0.74766	0.729952	0.87565	0	0.577304	0.33150	0	0.489635	0.07774	0	0.692231	0.68500	0	.	.	5.25	4.13	0.47661	1.859000	0.39058	1.581000	0.27475	0.644000	0.52426	1.000000	0.71638	0.991000	0.31484	0.723000	0.34869	0.0:0.0914:0.0:0.9086	7.918	0.28989	100	0.95872	.;.	C11orf52	Brain_Cerebellum	PPP2R1B|PPP2R1B	Adipose_Subcutaneous|Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.020202	0.017663	0.023392	0.050000	0.000000	0.009146	0.003788	0.08333	1087.83	95	chr11	111737492	.	T	A	1087.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.241;DP=271;ExcessHet=0;FS=2.675;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.224;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	5	0	1	0
chr11	111753508	111753510	TAG	-	exonic	PPP2R1B	.	nonframeshift deletion	PPP2R1B:NM_001177563:exon7:c.716_718del:p.T239del,PPP2R1B:NM_181700:exon7:c.905_907del:p.T302del,PPP2R1B:NM_002716:exon9:c.1097_1099del:p.T366del,PPP2R1B:NM_181699:exon9:c.1097_1099del:p.T366del	Lung cancer, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs782415132	2.806e-05	2.805e-05	2.316e-05	3.302e-05	0.0014	2.088e-05	1.879e-05	0.0007	0.0005	5.977e-05	0	0	0	0	0.0014	2.7e-05	1.657e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	3440.01	33	chr11	111753507	.	ATAG	A	3440.01	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.94;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	5	1	0	0
chr11	112028585	112028585	C	T	exonic	DLAT	.	nonsynonymous SNV	DLAT:NM_001372031:exon3:c.C452T:p.A151V,DLAT:NM_001372032:exon3:c.C452T:p.A151V,DLAT:NM_001372033:exon3:c.C452T:p.A151V,DLAT:NM_001372034:exon3:c.C419T:p.A140V,DLAT:NM_001372035:exon3:c.C452T:p.A151V,DLAT:NM_001372036:exon3:c.C326T:p.A109V,DLAT:NM_001372037:exon3:c.C284T:p.A95V,DLAT:NM_001372039:exon3:c.C452T:p.A151V,DLAT:NM_001372041:exon3:c.C452T:p.A151V,DLAT:NM_001931:exon3:c.C452T:p.A151V	Pyruvate dehydrogenase E2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0887931950327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.015	0.61642	D	0.372	0.56013	B	0.312	0.63157	B	0.004742	0.33426	N	0.348460	0.903954	0.81001	D	2.285	0.65182	M	0.37	0.57729	T	-0.87	0.36385	N	0.42	0.50778	-0.3813	0.72611	T	0.312	0.68229	T	10	0.36940417	0.53356	T	0.088793	0.75201	D	0.229	0.52916	0.418	0.45873	0.679913390818	0.67719	0.34472874959310035	0.34385	0.664077401662	0.59052	0.488060832024	0.37170	T	0.160514	0.50439	T	-0.0659416	0.41974	T	-0.332497	0.41190	T	0.957216501235962	0.64953	D	0.965603	0.87267	D	0.1269211	0.29715	0.0925788	0.21825	0.1269211	0.29715	0.0925788	0.21824	-8.675	0.65583	D	.	.	0.142	0.46025	B	.;.	.;.	4.434338	0.68789	25.3	0.99874719420651092	0.95160	0.98419	0.82582	D	AEFDBI	0.838514	0.75603	D	0.321779671850602	0.57267	3.893518	0.342407219782394	0.58053	3.973599	0.999999999885122	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.75	0.59954	7.477000	0.80071	5.977000	0.52101	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.999000	0.91618	0.0:0.9297:0.0:0.0703	14.490	0.67226	594	0.68584	Biotin/lipoyl attachment|Biotin/lipoyl attachment;Biotin/lipoyl attachment|Biotin/lipoyl attachment	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2274.06	34	chr11	112028585	.	C	T	2274.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.192;DP=361;ExcessHet=0.4139;FS=2.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.57;SOR=0.535	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1060,0,1070	4	0	2	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E	.	412	1087	23	0	0	23	0.0104688	.	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012632	0.017045	0.016667	0.016854	0.142857	0.000000	0.015464	0.000000	0.1667	1539.04	33	chr11	113231236	.	G	A	1539.04	.	AC=2;AF=0.167;AN=12;DP=227;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.5;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1158	5	1	0	0
chr11	113412715	113412715	T	C	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.A892G:p.K298E,DRD2:NM_000795:exon7:c.A979G:p.K327E	.	0	1515	7	0	0	7	0.00230491	.	.	.	241055	Dystonic_disorder|not_provided	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0025	0.00279553	0.0038	0.0005	0.0005	0	0.0222	0.0039	0.0099	0.0024	0.0034799	538	154602	rs71653614	0.0031	0.0031	0.0030	0.0031	0.0027	0.0030	0.0030	0.0026	0.0026	0.0004	0.0005	0.0004	0	0.0207	0.0007	0.0027	0.0028	0.0023	0.0036	0.0035	0.0029	0.0043	0.0039	0.0033	0.0032	0.0035	0.0034	0.0007	0	0.0004	0.0006	0.0002	0.0205	0.0034	0.0039	0.0033	0.0025	0.312	0.29158	T	0.713	0.09795	T	0.007	0.18235	B	0.011	0.21540	B	0.000000	0.84330	D	0.081650	0.999997	0.58761	D	1.445	0.36358	L	-0.67	0.72458	T	-0.57	0.24898	N	0.487	0.53181	-0.8557	0.51570	T	0.165	0.50209	T	10	0.006436944	0.00146	T	.	.	.	0.212	0.50341	.	.	0.83841986829	0.83687	0.4838085822904552	0.48300	1.27943491311	0.82487	0.639596939087	0.58507	T	0.109656	0.42371	T	-0.260005	0.12899	T	-0.140988	0.60032	T	0.0501452647467594	0.05525	T	0.856214	0.56597	D	0.29855898	0.52775	0.374772	0.62636	0.29855898	0.52775	0.374772	0.62635	-4.51	0.35396	T	.	.	0.132	0.36732	B	.;.;.;.;.	.;.;.;.;.	3.459078	0.48208	22.6	0.99723632802450846	0.82266	0.98484	0.83265	D	AEFBI	0.942577	0.94733	D	-0.00477627300684651	0.41639	2.494186	0.231205104956738	0.51588	3.339955	0.999999998100973	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	8.017000	0.88732	7.876000	0.72232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.450	0.83825	860	0.33753	GPCR, rhodopsin-like, 7TM;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	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.1667	3185.06	34	chr11	113412715	.	T	C	3185.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.73;DP=371;ExcessHet=0.4139;FS=13.769;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.146;SOR=1.433	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1552,0,1407	4	0	2	0
chr11	113412766	113412766	G	A	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.C841T:p.P281S,DRD2:NM_000795:exon7:c.C928T:p.P310S	.	1	1487	30	4	0	38	0.0126162	.	.	.	253994	DRD2-associated_Dystonia|not_specified|Dystonic_disorder|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0120403957927	0.0006	0.000798722	0.0014	0	0.0010	0	0	0.0021	0	0.0010	0.001216	188	154602	rs1800496	0.0011	0.0011	0.0010	0.0011	0.0274	0.0010	0.0010	0.0239	0.0226	0.0008	0.0011	0.0168	0	7.489e-05	0.0274	0.0006	0.0024	0.0012	0.0012	0.0012	0.0012	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	9.627e-05	0	0.0011	0.0150	0	0	0.0308	0.0012	0.0038	0.0010	0.446	0.09236	T	0.87	0.12072	T	0.0	0.02946	B	0.001	0.06944	B	0.007316	0.31472	N	0.382752	0.856594	0.28418	N	1.18	0.29980	L	-0.52	0.70950	T	-0.3	0.11913	N	0.095	0.07535	-0.9782	0.35413	T	0.131	0.44228	T	10	0.003302753	0.00057	T	0.01204	0.30251	T	0.053	0.14996	.	.	0.635011714626	0.63201	0.2832165131889466	0.28234	0.819110548624	0.67075	0.288126349449	0.08650	T	0.080947	0.36483	T	-0.399698	0.02326	T	-0.392466	0.34263	T	0.00755147470409422	0.00087	T	0.427357	0.25136	T	0.031609956	0.03031	0.044623986	0.05823	0.031609956	0.03031	0.044623986	0.05823	-3.059	0.10831	T	.	.	0.064	0.02145	B	.;.;.;.;.	.;.;.;.;.	1.639653	0.20925	14.97	0.87683899775081209	0.17406	0.93619	0.58715	D	AEFDBI	0.380806	0.46331	N	-0.740278025076547	0.14899	0.7461527	-0.597916278238898	0.19546	1.049245	0.11352656309492	0.16710	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	1.56	0.22423	0.409000	0.20803	4.908000	0.45924	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.0684:0.4643:0.3579:0.1094	7.779	0.28218	860	0.33753	GPCR, rhodopsin-like, 7TM;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	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.005051	0.027174	0.061404	0.000000	0.025862	0.003049	0.003788	0.08333	2074.83	45	chr11	113412766	.	G	A	2074.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=326;ExcessHet=0;FS=2.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=0.543;SOR=0.689	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1225	5	0	1	0
chr11	113932386	113932386	A	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon4:c.A433C:p.S145R,HTR3B:NM_006028:exon5:c.A466C:p.S156R	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0250066252546	0.0055	0.00179712	0.0041	0.0005	0.0034	0.0001	0.0018	0.0058	0.0033	0.0032	0.0040814	631	154602	rs72466469	0.0049	0.0049	0.0048	0.0050	0.0068	0.0048	0.0048	0.0052	0.0052	0.0007	0.0038	0.0143	0.0001	0.0013	0.0068	0.0053	0.0055	0.0031	0.0040	0.0040	0.0044	0.0036	0.0063	0.0038	0.0037	0.0058	0.0056	0.0009	0	0.0041	0.0121	0	0.0013	0	0.0063	0.0061	0.0035	0.004	0.65419	D	0.084	0.41742	T	0.934	0.58077	P	0.643	0.61279	P	0.012047	0.29308	N	0.421195	0.527966	0.31951	D	1.595	0.40691	L	-1.28	0.79376	T	-2.34	0.51811	N	0.387	0.42834	-0.2710	0.75785	T	0.383	0.73943	T	10	0.01663372	0.00351	T	0.025007	0.47992	D	0.264	0.57741	0.21	0.12781	0.757769487402	0.75556	0.42280760931178624	0.42197	0.25041078572	0.27610	0.319523781538	0.13349	T	0.152105	0.49235	T	-0.315207	0.07298	T	-0.223215	0.52425	T	0.0488645287089559	0.05299	T	0.809719	0.47040	T	0.3483172	0.56935	0.29076025	0.55100	0.3483172	0.56936	0.29076025	0.55099	-3.717	0.19569	T	.	.	0.150	0.33086	B	.;.	.;.	1.647686	0.21022	15.02	0.99737840350303608	0.83264	0.36996	0.25661	N	AEFBI	0.232044	0.35518	N	-0.317441561955011	0.28486	1.57156	-0.43329920996704	0.24026	1.313442	7.90171590104167E-4	0.07810	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.82	0.729	0.17416	1.081000	0.30402	1.366000	0.25918	-0.208000	0.08445	0.291000	0.25242	0.078000	0.22336	0.445000	0.27784	0.6577:0.0:0.2158:0.1265	4.941	0.13316	864	0.32732	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.013587	0.002924	0.000000	0.008621	0.015244	0.003788	0.1667	2265.06	36	chr11	113932386	.	A	C	2265.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.174;DP=357;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.876;SOR=0.732	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1203,0,1243	4	0	2	0
chr11	114400220	114400220	C	T	exonic	C11orf71	.	nonsynonymous SNV	C11orf71:NM_001271562:exon1:c.G112A:p.G38R,C11orf71:NM_019021:exon1:c.G112A:p.G38R	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.029585283342	.	.	0.0002	0	0.0003	0	0	0.0003	0.0026	0	0.0001488	23	154602	rs764017168	9.999e-05	9.987e-05	9.266e-05	0.0001	0.0005	8.656e-05	8.144e-05	0.0001	0.0001	0	0.0002	0.0023	0	0	0.0005	4.859e-05	0.0003	0	0.0001	0.0001	0.0001	9.412e-05	0.0003	7.575e-05	6.28e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.913	0.64886	D	0.000941	0.40932	D	0.000000	0.816593	0.81001	D	1.1	0.28011	L	.	.	.	-8.0	0.96495	D	0.765	0.76296	-0.7563	0.57604	T	0.197	0.55115	T	9	0.12735903	0.24220	T	0.029585	0.52069	D	0.246	0.55340	0.357	0.35897	0.237489013734	0.23353	0.25824059390836085	0.25738	1.28687267686	0.82678	.	.	.	0.132694	0.46294	T	0.0215756	0.54594	T	0.0779289	0.75440	D	0.298877000808716	0.24957	T	0.79532	0.43818	T	0.12394489	0.29092	0.26884446	0.52758	0.12394489	0.29092	0.26884446	0.52757	-3.393	0.15738	T	.	.	0.563	0.70105	A	.;.	.;.	4.866569	0.79681	27.2	0.9988474626750633	0.96049	0.28448	0.23557	N	ALL	0.286858	0.39914	N	0.262774517331979	0.54274	3.593339	0.202948981495784	0.50010	3.19765	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.96	4.05	0.46415	3.152000	0.50375	4.434000	0.43361	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.276000	0.23917	0.0:0.9022:0.0:0.0978	9.102	0.35835	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1259.83	37	chr11	114400220	.	C	T	1259.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.49;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.62;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1269	5	0	1	0
chr11	114571227	114571227	C	T	exonic	NXPE4	.	nonsynonymous SNV	NXPE4:NM_001077639:exon6:c.G1346A:p.R449Q,NXPE4:NM_017678:exon6:c.G494A:p.R165Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00827556891443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018607965	5.473e-06	5.472e-06	2.723e-06	8.251e-06	2.988e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.988e-05	0	0	2.519e-05	0	0	4.497e-06	0	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.03	0.45393	D	0.119	0.40267	T	0.995	0.67487	D	0.73	0.55268	P	0.002761	0.36001	N	0.114147	0.742329	0.29722	N	2.225	0.63025	M	1.74	0.26301	T	-3.27	0.65512	D	0.142	0.15328	-0.9690	0.37407	T	0.090	0.34518	T	10	0.27441728	0.44995	T	0.008276	0.21928	T	0.131	0.35738	0.593	0.72247	0.0716867268079	0.06686	0.33502939688955846	0.33415	0.0913205535873	0.10314	0.22347971797	0.01520	T	0.097845	0.40107	T	-0.22149	0.17791	T	-0.555931	0.16761	T	0.977362215518951	0.71809	D	0.845015	0.54241	T	0.17207219	0.37878	0.13648082	0.32649	0.17207219	0.37878	0.13648082	0.32648	-6.691	0.55746	T	.	.	0.080	0.11558	B	.;.	.;.	2.647511	0.34467	19.63	0.99932698502033535	0.99439	0.11653	0.16775	N	AEFBI	0.067987	0.13391	N	-0.0016559543925265	0.41781	2.505259	-0.110253571194246	0.34975	2.018072	1.77264381391972E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	0.373	0.15410	0.060000	0.14220	-0.423000	0.09272	0.599000	0.40250	0.056000	0.21631	0.000000	0.08366	0.998000	0.85391	0.0:0.637:0.0:0.363	9.592	0.38719	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1671.83	33	chr11	114571227	.	C	T	1671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=422;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.902;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	5	0	1	0
chr11	114698148	114698148	A	G	exonic	NXPE2	.	nonsynonymous SNV	NXPE2:NM_182495:exon3:c.A236G:p.E79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0140472487288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.716	0.42206	P	0.367	0.43430	B	0.005186	0.33015	N	0.134755	1	0.08975	N	2.82	0.82106	M	2.56	0.13673	T	-5.29	0.84315	D	0.237	0.26717	-1.0578	0.12311	T	0.057	0.23791	T	10	0.26305705	0.43780	T	0.014047	0.33902	T	0.082	0.23913	0.208	0.12497	0.0482279557977	0.04254	0.37339098200503124	0.37253	0.0192901592951	0.01888	0.311254531145	0.12096	T	0.128604	0.45636	T	-0.196446	0.21319	T	-0.519957	0.20298	T	0.968924224376678	0.68410	D	0.714029	0.32612	T	0.25727212	0.48770	0.33392736	0.59224	0.25727212	0.48770	0.33392736	0.59223	-8.885	0.66953	D	.	.	0.082	0.08754	B	.	.	3.044350	0.40826	21.2	0.99863992268373059	0.94184	0.80620	0.40210	D	AEFGI	0.463787	0.51256	N	0.0191226744751941	0.42725	2.579726	-0.0169127627842439	0.38951	2.302262	0.0078689352989266	0.11561	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	3.596000	0.53770	6.114000	0.53700	0.691000	0.84096	0.970000	0.34288	0.860000	0.27479	0.047000	0.14932	1.0:0.0:0.0:0.0	11.862	0.51749	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3919.04	33	chr11	114698148	.	A	G	3919.04	.	AC=2;AF=0.167;AN=12;DP=292;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.39;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	5	1	0	0
chr11	116820959	116820959	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A1099G:p.T367A	.	1	941	461	91	28	671	0.254653	.	.	.	1665716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0120121571706	.	0.000399361	0.0014	0.0002	0.0008	0.0001	0	0.0018	0.0044	0.0017	0.0012936	200	154602	rs675	0.0013	0.0013	0.0012	0.0014	0.0232	0.0012	0.0012	0.0200	0.0188	0.0010	0.0007	0.0024	0	7.49e-05	0.0232	0.0012	0.0016	0.0024	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0009	0.0009	0.0002	0.0242	0.0006	0.0032	0	0	0.0136	0.0011	0.0014	0.0017	0.414	0.10020	T	0.339	0.18071	T	.	.	.	.	.	.	0.407012	0.13048	N	0.640140	1	0.08975	N	.	.	.	-0.72	0.72994	T	0.21	0.04776	N	0.037	0.01135	-1.0196	0.23845	T	0.163	0.49881	T	10	0.00393337	0.00075	T	0.012012	0.30193	T	0.053	0.14996	.	.	0.202949470691	0.19918	0.06988835794818526	0.06926	0.0511132485683	0.05625	0.253537476063	0.04150	T	.	.	.	-0.580172	0.00192	T	-0.612629	0.11772	T	0.00288888462819159	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	0.562637	0.09313	6.093	0.56217289249236624	0.05505	0.01906	0.05837	N	AEFDBI	0.101439	0.20374	N	-1.04106067913846	0.07763	0.3617752	-1.0807239329008	0.08080	0.3957362	0.998166737742862	0.36515	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	0.012	0.13411	-0.211000	0.09336	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0992:0.2603:0.282:0.3586	2.065	0.03382	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	4378.09	168	chr11	116820959	.	T	C	4378.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.481;DP=465;ExcessHet=0.4139;FS=1.94;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.193;SOR=0.581	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1279	5	0	1	0
chr11	116873495	116873495	C	T	exonic	SIK3	.	nonsynonymous SNV	SIK3:NM_001281749:exon12:c.G1579A:p.V527I,SIK3:NM_001366686:exon13:c.G1723A:p.V575I,SIK3:NM_025164:exon13:c.G1723A:p.V575I,SIK3:NM_001281748:exon14:c.G1246A:p.V416I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0208737108328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.50676	D	0.251	0.23638	T	.	.	.	.	.	.	0.002137	0.37183	U	0.000000	1	0.81001	D	.	.	.	-0.59	0.71543	T	-0.56	0.17003	N	0.605	0.62696	-0.1566	0.78754	T	0.466	0.79389	T	10	0.52754855	0.62996	D	0.020874	0.43546	T	0.236	0.53931	.	.	0.483636461449	0.47994	0.19405906281004623	0.19323	.	.	0.718300104141	0.69799	T	.	.	.	-0.0194792	0.48927	T	-0.265757	0.48248	T	0.765236657019517	0.44156	D	0.937706	0.77081	D	0.058621045	0.11815	0.06616715	0.13517	0.058621045	0.11814	0.06616715	0.13516	-3.396	0.19274	T	.	.	0.232	0.46516	B	.;.	.;.	4.843301	0.79091	27.0	0.99898895181073477	0.97124	0.99608	0.97942	D	AEFDBIJ	0.834348	0.75241	D	0.725464003348847	0.81301	7.490365	0.752031520102046	0.86308	8.847939	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.246000	0.77688	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.893	0.96936	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1180.06	35	chr11	116873495	.	C	T	1180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.022;DP=249;ExcessHet=0.4139;FS=3.631;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.464;SOR=1.055	GT:AD:DP:GQ:PL	0/1:32,25:57:99:576,0,871	4	0	2	0
chr11	116876309	116876309	C	T	exonic	SIK3	.	nonsynonymous SNV	SIK3:NM_001281749:exon8:c.G1039A:p.E347K,SIK3:NM_001366686:exon8:c.G1039A:p.E347K,SIK3:NM_025164:exon8:c.G1039A:p.E347K,SIK3:NM_001281748:exon9:c.G562A:p.E188K	.	425	1084	13	0	0	13	0.00596057	.	.	.	3547183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.344	0.0651946556664	0.0004	0.000199681	0.0010	9.61e-05	0.0002	0.0001	0	0.0013	0.0033	0.0017	0.0009961	154	154602	rs45511502	0.0009	0.0009	0.0008	0.0010	0.0125	0.0008	0.0008	0.0102	0.0093	0.0004	0.0002	0.0024	2.519e-05	7.488e-05	0.0125	0.0008	0.0011	0.0023	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0005	0.0005	7.211e-05	0	6.531e-05	0.0029	0	0	0.0034	0.0007	0.0009	0.0012	0.02	0.65419	D	0.058	0.46182	T	.	.	.	.	.	.	0.018412	0.27490	U	0.165192	0.999998	0.81001	D	.	.	.	-0.56	0.71187	T	-2.84	0.59873	D	0.503	0.53532	-0.2987	0.75021	T	0.360	0.72224	T	10	0.024621636	0.00684	T	0.065195	0.69505	D	0.344	0.66582	.	.	0.515558578274	0.51199	0.5135045924885121	0.51272	.	.	0.539111375809	0.44319	T	.	.	.	-0.229747	0.16683	T	-0.109577	0.62645	T	0.0937818314898036	0.11659	T	0.945105	0.80045	D	0.25718024	0.48761	0.24344386	0.49789	0.21182832	0.43518	0.23781699	0.49087	-10.144	0.74769	D	.	.	0.131	0.28057	B	.;.	.;.	4.045876	0.59928	24.2	0.99842274804629649	0.92229	0.99476	0.96499	D	AEFDBI	0.856519	0.77377	D	0.375110434416318	0.60075	4.192729	0.493053468295821	0.67529	5.09618	0.999999999999694	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	7.114000	0.76737	7.651000	0.63703	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.570	0.95403	487	0.76954	Ubiquitin-associated domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.010101	0.013587	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	482.83	33	chr11	116876309	.	C	T	482.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.436;DP=228;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.632;SOR=0.524	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	5	0	1	0
chr11	117219154	117219154	C	T	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon11:c.G1334A:p.R445H	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00678914	0.0040	0	0	0.0001	0	1.792e-05	0.0041	0.0288	0.0030207	467	154602	rs139555790	0.0017	0.0017	0.0008	0.0025	0.0266	0.0016	0.0016	0.0257	0.0253	2.991e-05	2.243e-05	0	0.0001	0	0.0014	9.908e-06	0.0016	0.0266	0.0010	0.0010	0.0006	0.0014	0.0290	0.0008	0.0008	0.0251	0.0236	9.62e-05	0	0	0	0	0	0	2.94e-05	0	0.0290	0.262	0.16466	T	0.141	0.34837	T	0.003	0.11197	B	0.004	0.10090	B	0.000505	0.43753	N	0.233534	0.999971	0.19599	N	-0.03	0.05048	N	-1.44	0.80815	T	-0.32	0.12283	N	0.172	0.19995	-0.8579	0.51413	T	0.244	0.61237	T	10	0.00224936	0.00033	T	.	.	.	0.108	0.30607	.	.	0.481393932785	0.47771	0.5249313837551314	0.52417	0.648183044756	0.58173	0.221892893314	0.01422	T	0.019134	0.15298	T	-0.409593	0.02000	T	-0.341531	0.40171	T	0.0340348025916292	0.02643	T	0.812719	0.46458	T	0.060162373	0.12311	0.0399855	0.04217	0.060162373	0.12311	0.0399855	0.04217	-3.23	0.12851	T	.	.	0.066	0.02065	B	.;.	.;.	2.139018	0.27237	17.39	0.9862796910792786	0.43866	0.13493	0.17887	N	AEFBI	0.067795	0.13343	N	-0.916955437733202	0.10445	0.499179	-0.837406223478595	0.13590	0.7058474	0.999583278636023	0.40607	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.2	0.028	0.13474	0.181000	0.16691	-0.353000	0.09730	-0.266000	0.06809	0.680000	0.28438	0.095000	0.22593	0.965000	0.52897	0.0:0.611:0.0:0.389	9.467	0.37982	610	0.67008	Peptidase S8/S53 domain;Peptidase S8/S53 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	0.002520	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.011364	0.08333	879.83	35	chr11	117219154	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.112;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	5	0	1	0
chr11	117822716	117822716	G	A	exonic	FXYD2;FXYD6-FXYD2	.	nonsynonymous SNV	FXYD6-FXYD2:NM_001243598:exon7:c.C274T:p.R92W	.	1	1519	2	0	0	2	0.000657895	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00450538121976	.	.	1.151e-05	0	0	0	0	1.976e-05	0	0	1.29e-05	2	154602	rs758335144	1.304e-05	1.505e-05	1.092e-05	1.519e-05	5.977e-05	8.34e-06	6.72e-06	9.9e-06	6.43e-06	5.977e-05	0	0	0	1.911e-05	0	1.35e-05	1.66e-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	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.990202	0.81001	N	.	.	.	-0.43	0.69657	T	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	0.074183464	0.11306	T	0.004505	0.11063	T	.	.	.	.	0.419839959566	0.41604	.	.	0.313859155843	0.33679	.	.	.	.	.	.	-0.0131615	0.49821	T	-0.256682	0.49155	T	.	.	.	0.377862	0.09067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29588	B	.	.	-0.102591	0.03625	0.718	0.87744881673334107	0.17450	0.01653	0.05307	N	AEFBCI	0.099496	0.20027	N	.	.	.	.	.	.	0.999889131429505	0.44867	0.554377	0.28877	0	0.588066	0.40923	0	0.550215	0.18615	0	0.631631	0.49550	0	.	.	4.35	-3.21	0.04823	-1.243000	0.03015	-1.313000	0.05742	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.5231:0.0:0.3342:0.1427	4.634	0.11902	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	621.83	36	chr11	117822716	.	G	A	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.048;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.738;SOR=0.553	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1442	5	0	1	0
chr11	118144015	118144015	G	A	exonic	SCN4B	.	nonsynonymous SNV	SCN4B:NM_174934:exon3:c.C281T:p.T94M	Atrial fibrillation, familial, 17, Autosomal dominant;Long QT syndrome-10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	188496	Cardiovascular_phenotype|Long_QT_syndrome_10|not_provided	MedGen:CN230736|MONDO:MONDO:0012737,MedGen:C2678484,OMIM:611819,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0120303929527	.	.	3.295e-05	0	8.637e-05	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs768926261	1.71e-05	1.71e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.92e-06	2.194e-05	1.43e-05	0	2.236e-05	0	5.038e-05	0	0.0002	1.439e-05	0	5.797e-05	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.109	0.29288	T	0.119	0.36101	T	0.927	0.51527	P	0.224	0.37970	B	0.287990	0.03875	N	1.441340	1	0.18198	N	1.15	0.29295	L	-0.26	0.67187	T	-0.08	0.08187	N	0.136	0.13341	-0.9564	0.39843	T	0.105	0.38440	T	10	0.06816167	0.09600	T	0.01203	0.30231	T	0.135	0.36572	0.231	0.15855	0.0482279557977	0.04254	0.5602926047369109	0.55956	0.151135903681	0.17061	0.31937789917	0.13326	T	0.234608	0.60168	T	-0.329517	0.06148	T	-0.614251	0.11642	T	0.13422030210495	0.15766	T	0.762324	0.38756	T	0.029986007	0.02585	0.052921046	0.08814	0.033647276	0.03624	0.069404095	0.14618	-5.962	0.45960	T	0.09866249393941408	0.07081	0.081	0.08368	B	.	.	1.350817	0.17583	13.25	0.96480440276540547	0.29970	0.01434	0.04823	N	AEFDGBI	0.036265	0.04805	N	-1.06287006640251	0.07337	0.3405167	-1.16952333804715	0.06425	0.3091991	0.999513804135462	0.40117	0.625279	0.40028	0	0.59043	0.45803	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	4.82	-3.75	0.04087	-0.307000	0.08206	-0.411000	0.09346	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.683000	0.33629	0.3466:0.2539:0.1245:0.275	0.485	0.00516	438	0.80235	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1083.83	34	chr11	118144015	.	G	A	1083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.11;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.609;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	5	0	1	0
chr11	118532154	118532154	G	C	exonic	TMEM25	.	nonsynonymous SNV	TMEM25:NM_001144034:exon3:c.G75C:p.W25C,TMEM25:NM_001144035:exon3:c.G75C:p.W25C,TMEM25:NM_001144037:exon3:c.G75C:p.W25C,TMEM25:NM_001144038:exon3:c.G75C:p.W25C,TMEM25:NM_001318755:exon3:c.G75C:p.W25C,TMEM25:NM_001318757:exon3:c.G75C:p.W25C,TMEM25:NM_032780:exon3:c.G75C:p.W25C	.	422	1078	22	0	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0092	0.00698882	0.0169	0.0281	0.0113	0.0003	0.0053	0.0198	0.0286	0.0084	0.0075484	1167	154602	rs35915434	0.0081	0.0081	0.0081	0.0081	0.0194	0.0080	0.0079	0.0165	0.0153	0.0160	0.0056	0.0157	5.118e-05	0.0036	0.0194	0.0085	0.0075	0.0041	0.0095	0.0095	0.0102	0.0087	0.0146	0.0091	0.0089	0.0136	0.0132	0.0146	0.0493	0.0062	0.0164	0	0.0024	0.0442	0.0085	0.0047	0.0031	0.021	0.53172	D	0.04	0.65728	D	0.0	0.65571	B	0.0	0.51908	B	0.001093	0.40303	N	0.176289	0.997138	0.81001	D	1.87	0.49600	L	2.3	0.30133	T	-2.12	0.91395	N	0.334	0.38848	-1.1085	0.03201	T	0.043	0.18326	T	10	0.006802678	0.00155	T	.	.	.	0.079	0.23065	0.252	0.19067	0.0986583533028	0.09354	0.6947654204807727	0.69417	0.22818053352	0.25372	0.571099042892	0.48834	T	0.078915	0.36005	T	-0.451457	0.01108	T	-0.40829	0.32422	T	0.00937457569547086	0.00120	T	0.765923	0.39354	T	0.2311183	0.45878	0.16963321	0.39011	0.2311183	0.45878	0.16963321	0.39010	-2.912	0.09559	T	.	.	0.277	0.55487	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.764781	0.22442	15.62	0.98477695238953178	0.41931	0.85246	0.44362	D	AEFDBI	0.251787	0.37159	N	-0.39224383228242	0.25744	1.399828	-0.315853451040397	0.27586	1.532	0.999955652262329	0.48110	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.669	0.65921	0	.	.	5.19	1.07	0.19399	0.929000	0.28445	1.009000	0.23318	-0.110000	0.15115	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0828:0.0:0.4638:0.4534	6.757	0.22705	321	0.86949	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014646	0.015306	0.019074	0.017544	0.000000	0.008621	0.015337	0.003788	0.1667	1244.04	35	chr11	118532154	.	G	C	1244.04	.	AC=2;AF=0.167;AN=12;DP=211;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.75;SOR=2.303	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	5	1	0	0
chr11	118660640	118660640	T	C	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.A908G:p.N303S,TREH:NM_007180:exon10:c.A1001G:p.N334S	Trehalase deficiency	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00125204787486	.	.	0.0002	0	0	0	0	0	0	0.0012	8.41e-05	13	154602	rs782001935	4.467e-05	4.446e-05	1.229e-05	7.745e-05	0.0008	3.591e-05	3.272e-05	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0008	3.285e-05	3.281e-05	1.286e-05	5.375e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.046	0.40573	D	0.073	0.43159	T	0.0	0.02946	B	0.0	0.01387	B	0.102859	0.19774	N	0.581631	1	0.08975	N	.	.	.	2.18	0.18875	T	-0.45	0.14782	N	0.122	0.11912	-1.0284	0.20973	T	0.027	0.11529	T	9	0.017226905	0.00367	T	0.001252	0.01683	T	0.027	0.05988	0.337	0.32654	0.0551355673512	0.04727	0.2570234685693903	0.25616	0.0275193117563	0.02815	0.289728879929	0.08882	T	0.036453	0.24107	T	-0.685113	0.00045	T	-0.836155	0.01158	T	0.0691599547863007	0.08533	T	0.556544	0.19325	T	0.039612364	0.05502	0.042102188	0.04939	0.039612364	0.05501	0.042102188	0.04938	-1.898	0.08267	T	.	.	0.062	0.01577	B	.;.	.;.	-0.201360	0.03083	0.484	0.48001988879487989	0.03970	0.04959	0.10723	N	AEFDBCI	0.067482	0.13268	N	-1.28485407353786	0.03857	0.1730653	-1.33012651131634	0.04045	0.1900182	0.999941314383577	0.47345	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	4.72	-0.281	0.12244	0.324000	0.19357	0.450000	0.18513	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.0:0.2685:0.3196:0.4119	4.449	0.11031	316	0.87161	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1689.83	115	chr11	118660640	.	T	C	1689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=294;ExcessHet=0;FS=5.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.736;SOR=0.601	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr11	120137438	120137438	A	-	exonic	TRIM29	.	frameshift deletion	TRIM29:NM_012101:exon1:c.594delT:p.L199Sfs*60	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	968.79	41	chr11	120137437	.	GA	G	968.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.391;DP=237;ExcessHet=0;FS=2.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19;ReadPosRankSum=-0.805;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1396	5	0	1	0
chr11	121145567	121145567	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.C3556T:p.R1186W,TBCEL-TECTA:NM_001378761:exon18:c.C4513T:p.R1505W	.	0	1520	1	1	0	3	0.000985869	.	.	.	318882	Autosomal_dominant_nonsyndromic_hearing_loss_12|TECTA-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21	MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|.|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0857344375054	0.0003	0.00179712	0.0009	0	0.0002	0.0005	0	7.492e-05	0	0.0058	0.0007827	121	154602	rs148098950	0.0005	0.0005	0.0004	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	8.961e-05	0.0002	0	0.0002	0	0.0010	0.0002	0.0006	0.0057	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0047	0.0040	0.0001	0	0.0007	0	0.0006	0	0	0.0001	0	0.0064	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999746	0.48716	D	1.585	0.39878	L	0.18	0.60361	T	-2.46	0.53736	N	0.871	0.86833	-0.4790	0.69403	T	0.314	0.68424	T	10	0.0098540485	0.00221	T	0.085734	0.74592	D	0.352	0.67326	.	.	0.847631421277	0.84616	0.7341693214237388	0.73361	1.05113681247	0.76148	0.732054233551	0.71807	T	0.297435	0.67003	T	-0.0749782	0.40528	T	0.121857	0.78359	D	0.154764115743218	0.17476	T	0.965803	0.87368	D	0.43300048	0.62948	0.43418798	0.66947	0.46722206	0.65120	0.48998272	0.70493	-6.788	0.52470	T	0.2611662731153489	0.35261	0.712	0.78526	P	.;.;.	.;.;.	4.606355	0.72999	25.9	0.99918054428031255	0.98518	0.94445	0.61189	D	AEFDGBI	0.692640	0.65224	D	0.508790843477593	0.67608	5.104366	0.486460838566011	0.67094	5.037986	0.992833245878254	0.32986	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.87	4.95	0.64894	4.074000	0.57297	2.657000	0.33854	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.885000	0.42453	0.2643:0.7357:0.0:0.0	14.691	0.68694	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.1667	1941.06	34	chr11	121145567	.	C	T	1941.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.4;DP=334;ExcessHet=0.4139;FS=10.467;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=1.363	GT:AD:DP:GQ:PL	0/1:58,38:96:99:1039,0,1350	4	0	2	0
chr11	121145622	121145622	G	C	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.G3611C:p.G1204A,TBCEL-TECTA:NM_001378761:exon18:c.G4568C:p.G1523A	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.0393134608691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	0.958	0.54977	D	0.681	0.53500	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.545	0.74286	M	0.02	0.62318	T	-4.29	0.76414	D	0.958	0.96758	-0.3133	0.74612	T	0.363	0.72445	T	10	0.94667697	0.93995	D	0.039313	0.58739	D	0.651	0.86836	0.81	0.92650	0.908294157706	0.90738	0.8901236702241564	0.88982	1.0383659396	0.75692	0.670106768608	0.62853	T	0.452386	0.79273	T	0.308438	0.83629	D	0.205274	0.83415	D	0.985397040843964	0.76401	D	0.872813	0.58002	D	0.66137433	0.75972	0.73189837	0.84157	0.66137433	0.75974	0.73189837	0.84158	-7.984	0.60961	D	0.5982470024867442	0.66519	0.789	0.77807	P	.;.;.	.;.;.	4.904609	0.80643	27.4	0.99730818912589081	0.82761	0.98144	0.79977	D	AEFDBI	0.918573	0.88782	D	0.776472679587892	0.84613	8.337446	0.80134446988279	0.89884	10.164	0.999998439377934	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.87	5.87	0.94266	8.002000	0.88029	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.194	0.98239	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.08333	1454.83	34	chr11	121145622	.	G	C	1454.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.487;DP=300;ExcessHet=0;FS=1.541;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.157;SOR=0.926	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1513	5	0	1	0
chr11	121514222	121514222	A	C	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon8:c.A1112C:p.N371T	.	424	1094	4	0	0	4	0.00182482	.	.	.	724261	not_provided|SORL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0129148471588	0.0010	0.000399361	0.0014	0	0.0002	0	0.0024	0.0022	0	0.0003	0.001326	205	154602	rs150609294	0.0014	0.0014	0.0014	0.0013	0.0015	0.0013	0.0013	0.0014	0.0014	0.0002	0.0002	7.652e-05	0	0.0033	0.0003	0.0015	0.0013	0.0004	0.0014	0.0014	0.0015	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	9.626e-05	0	0	0	0	0.0031	0	0.0025	0.0009	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.932	0.51990	P	0.476	0.46961	P	0.000001	0.84330	D	0.091855	0.999809	0.49283	D	2.215	0.62545	M	1.37	0.34253	T	-4.36	0.76980	D	0.554	0.57946	-0.9806	0.34863	T	0.109	0.39392	T	10	0.031701446	0.01309	T	0.012915	0.31889	T	0.297	0.61730	.	.	0.707159592433	0.70460	0.377463242148245	0.37661	0.452076910653	0.44938	0.489787101746	0.37408	T	0.289049	0.66184	T	-0.381186	0.03063	T	-0.323688	0.42169	T	0.0672406434466806	0.08258	T	0.914708	0.69569	D	0.750457	0.80894	0.5807987	0.75702	0.750457	0.80896	0.5807987	0.75703	-7.448	0.57243	T	.	.	0.330	0.55194	B	.	.	4.257830	0.64686	24.7	0.99592412432224497	0.73690	0.99041	0.90363	D	AEDBI	0.899757	0.84452	D	0.582667469992828	0.72094	5.751803	0.637293403801528	0.77667	6.723768	0.999999999999834	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	9.245000	0.94556	11.155000	0.87468	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.906	0.79213	805	0.43675	Sortilin, N-terminal|VPS10	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1164.83	94	chr11	121514222	.	A	C	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.264;DP=277;ExcessHet=0;FS=3.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.843;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1254	5	0	1	0
chr11	123622558	123622558	C	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon20:c.C2060G:p.T687R,GRAMD1B:NM_001330396:exon20:c.C2048G:p.T683R,GRAMD1B:NM_001367418:exon20:c.C2249G:p.T750R,GRAMD1B:NM_020716:exon20:c.C2180G:p.T727R,GRAMD1B:NM_001286563:exon21:c.C2201G:p.T734R,GRAMD1B:NM_001367419:exon21:c.C2261G:p.T754R,GRAMD1B:NM_001367420:exon21:c.C2333G:p.T778R,GRAMD1B:NM_001367421:exon21:c.C2465G:p.T822R	.	434	1070	18	0	0	18	0.00834106	.	.	.	3216683	GRAMD1B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00715918431122	8.1e-05	.	0.0010	0	0	0.0018	0.0006	0.0017	0.0078	0.0001	0.000304	47	154602	rs368223750	0.0004	0.0004	0.0004	0.0005	0.0128	0.0004	0.0004	0.0104	0.0096	0.0002	0.0004	0.0055	0.0007	0.0002	0.0128	0.0002	0.0011	0.0002	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	4.823e-05	0	0.0004	0.0069	0	9.497e-05	0.0136	0.0004	0.0014	0	0.146	0.25055	T	0.523	0.10354	T	0.028	0.33731	B	0.019	0.36635	B	0.072196	0.21424	N	0.523138	0.94575	0.26652	N	.	.	.	1.9	0.46777	T	-1.99	0.45949	N	0.236	0.33250	-1.0750	0.08348	T	0.052	0.21921	T	10	0.0060343444	0.00135	T	0.007159	0.18979	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.7187856299696048	0.71821	0.464502503357	0.45921	0.30792850256	0.11594	T	0.030102	0.24416	T	-0.397849	0.02392	T	-0.477195	0.24745	T	0.0136201527552237	0.00252	T	0.875612	0.58729	D	0.04573389	0.07538	0.07592025	0.16763	0.04573389	0.07538	0.07592025	0.16763	-4.724	0.33693	T	.	.	0.078	0.12418	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.990014	0.25279	16.71	0.93829338719390076	0.23815	0.32719	0.24654	N	AEFBCI	0.096920	0.19558	N	-0.482405414601827	0.22658	1.211376	-0.322574506663467	0.27370	1.518314	3.53269803208867E-4	0.06668	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	5.33	3.43	0.38372	0.715000	0.25493	1.088000	0.23954	0.599000	0.40250	0.452000	0.26581	0.316000	0.24298	0.999000	0.91618	0.1452:0.456:0.16:0.2388	1.469	0.02266	726	0.54788	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.011579	0.005102	0.015278	0.035211	0.000000	0.008621	0.000000	0.000000	0.08333	745.83	35	chr11	123622558	.	C	G	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.341;DP=238;ExcessHet=0;FS=0.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.399;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	5	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	Likely benign	0	0	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	0.040785	0.050505	0.044837	0.058480	0.000000	0.043103	0.036585	0.022727	0.08333	1682.83	33	chr11	123943013	.	C	T	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=313;ExcessHet=0;FS=4.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.184;SOR=0.938	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr11	124016028	124016028	T	C	exonic	OR10G4	.	nonsynonymous SNV	OR10G4:NM_001004462:exon1:c.T454C:p.S152P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00213611560206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.214	0.26386	T	0.93	0.51791	P	0.826	0.59373	P	0.009044	0.30540	N	0.153091	1	0.08975	N	2.115	0.58683	M	8.71	0.00105	T	-2.4	0.52776	N	0.391	0.43223	-0.9712	0.36946	T	0.001	0.00348	T	10	0.31800085	0.49204	T	0.002136	0.03962	T	0.146	0.38789	0.671	0.80903	0.356690202451	0.35275	0.5664517962978667	0.56573	1.4447974456	0.86034	0.303079456091	0.10862	T	0.015766	0.13159	T	-0.175055	0.24476	T	-0.489231	0.23473	T	0.729989051818848	0.42209	D	0.790321	0.43084	T	0.81992656	0.85214	0.77696985	0.86843	0.81992656	0.85216	0.77696985	0.86844	-9.487	0.70778	D	.	.	0.560	0.69045	A	.;.;.	.;.;.	2.149906	0.27382	17.44	0.98690069572946659	0.44752	0.03964	0.09371	N	AEFGI	0.090500	0.18338	N	-0.476650375471921	0.22848	1.222843	-0.746594454364417	0.15805	0.8331071	2.41199109085581E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	-3.33	0.04649	0.108000	0.15232	-12.201000	0.00543	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.896000	0.43308	0.0:0.0857:0.5157:0.3985	8.485	0.32223	808	0.43318	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	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	7164.83	34	chr11	124016028	.	T	C	7164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.975;DP=1679;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.083;MQ=54.42;MQRankSum=1.24;QD=14.39;ReadPosRankSum=1.92;SOR=0.997	GT:AD:DP:GQ:PL	0/0:396,0:396:99:0,120,1800	5	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	868.06	130	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	868.06	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.51;DP=434;ExcessHet=0.6695;FS=70.836;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.55;ReadPosRankSum=-2.554;SOR=3.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	2	0	2	2
chr11	124265549	124265630	CATCCTTGTCCCCAGCCTGACCATCCTCAGCTCTTACATCTTCATCATTGCCAGCATCCTCCGCATTCGCTACACTGAGGGC	-	exonic	OR8G5	.	frameshift deletion	OR8G5:NM_001005198:exon2:c.618_699del:p.N206Kfs*53	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.311e-05	0	0	0	0	1.498e-05	0	0.0002	.	.	.	.	2.326e-05	2.599e-05	1.77e-05	2.888e-05	0.0002	1.674e-05	1.478e-05	0.0001	8.646e-05	0	0	0	0	0	0.0002	1.169e-05	8.282e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1294.79	159	chr11	124265548	.	ACATCCTTGTCCCCAGCCTGACCATCCTCAGCTCTTACATCTTCATCATTGCCAGCATCCTCCGCATTCGCTACACTGAGGGC	A	1294.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.02;DP=763;ExcessHet=0;FS=10.177;MLEAC=1;MLEAF=0.083;MQ=59.2;MQRankSum=-3.884;QD=8.41;ReadPosRankSum=-0.865;SOR=1.14	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	5	0	1	0
chr11	124265585	124265585	C	0	exonic	OR8G5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13050.1	161	chr11	124265585	.	C	*	13050.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.066;DP=793;ExcessHet=0.7136;FS=1.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-0.605;SOR=0.748	GT:AD:DP:GQ:PL	0/0:0,0:131:99:4256,4256,4256	5	0	1	0
chr11	124310747	124310747	G	T	exonic	OR8D1	.	nonsynonymous SNV	OR8D1:NM_001002917:exon1:c.C20A:p.S7Y	.	0	225	1	0	0	1	0.00221729	.	.	.	2809972	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	.	0.0032	0.00239617	0.0051	0.0012	0.0010	0.0001	0.0146	0.0068	0.0034	0.0016	0.0046701	722	154602	rs138336307	0.0051	0.0051	0.0052	0.0050	0.0055	0.0050	0.0050	0.0054	0.0054	0.0007	0.0012	0.0001	5.051e-05	0.0151	0.0026	0.0055	0.0045	0.0018	0.0036	0.0036	0.0034	0.0038	0.0050	0.0033	0.0032	0.0045	0.0044	0.0009	0	0.0009	0	0	0.0127	0.0034	0.0050	0.0038	0.0025	0.005	0.63226	D	0.0	0.92824	D	0.994	0.66517	D	0.949	0.68658	D	0.002408	0.36612	U	0.000000	1	0.08975	N	2.8	0.81625	M	0.57	0.54347	T	-4.8	0.80682	D	0.252	0.28498	-0.6657	0.62023	T	0.280	0.65170	T	10	0.004672587	0.00098	T	.	.	.	0.156	0.40720	.	.	0.706755276554	0.70420	0.19012550452594687	0.18930	0.174898917413	0.19690	0.307069569826	0.11463	T	0.032777	0.22635	T	-0.374278	0.03383	T	-0.305976	0.44091	T	0.0591280296414971	0.07031	T	0.272873	0.04620	T	0.20797701	0.43020	0.24547438	0.50036	0.20797701	0.43019	0.24547438	0.50035	-8.688	0.65667	D	.	.	0.255	0.48958	B	.;.;.	.;.;.	2.375908	0.30495	18.45	0.98819855230770837	0.46769	0.13737	0.18024	N	AEFBHCI	0.062492	0.12017	N	0.0617164674475527	0.44684	2.737914	-0.204796844717841	0.31362	1.774263	0.0231309669669615	0.13484	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.687789	0.68303	1	.	.	4.42	3.51	0.39297	0.637000	0.24348	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1:0.0:0.9:0.0	9.451	0.37889	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	0	0	1	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	1428.06	38	chr11	124310747	.	G	T	1428.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.246;DP=239;ExcessHet=0.4139;FS=3.647;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.086;SOR=1.263	GT:AD:DP:GQ:PL	0/1:23,26:49:99:679,0,680	4	0	2	0
chr11	124543114	124543114	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C541G:p.L181V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00128379336643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.295	0.20680	T	0.417	0.35244	B	0.363	0.43280	B	0.228210	0.15980	N	0.563846	1	0.08975	N	1.525	0.38595	L	8.71	0.00105	T	-2.02	0.46503	N	0.122	0.11340	-1.0477	0.15045	T	0.001	0.00188	T	10	0.15921098	0.29920	T	0.001284	0.01759	T	0.030	0.07022	0.432	0.48171	0.301455362545	0.29754	0.16750429442824222	0.16670	0.0794955650032	0.08942	0.170123904943	0.00032	T	0.006817	0.06247	T	-0.350042	0.04724	T	-0.740588	0.03866	T	0.206714287400246	0.20780	T	0.481052	0.14533	T	0.17748547	0.38718	0.1331682	0.31938	0.17748547	0.38717	0.1331682	0.31937	-5.495	0.41821	T	.	.	0.116	0.23325	B	.	.	1.757506	0.22356	15.59	0.98921905165679846	0.48583	0.07438	0.13456	N	AEFDGBI	0.128001	0.24559	N	-0.513738444466396	0.21636	1.149618	-0.597136606331921	0.19567	1.050421	2.38997017732463E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.268	0.14880	-3.358000	0.00553	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.435:0.0:0.565:0.0	7.900	0.28892	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	147.83	35	chr11	124543114	.	G	C	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.054;DP=349;ExcessHet=0;FS=63.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.77;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,16:157:99:0|1:124543114_G_C:158,0,5836:124543114	5	0	1	0
chr11	124543115	124543115	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C540G:p.I180M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00347678468714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.041	0.50514	D	0.963	0.55692	D	0.928	0.66279	D	0.000936	0.41028	D	0.106396	1	0.08975	N	2.01	0.54746	M	1.11	0.38883	T	-2.34	0.51811	N	0.273	0.30914	-0.9909	0.32373	T	0.154	0.48412	T	10	0.22557211	0.39390	T	0.003477	0.07878	T	0.089	0.25827	0.481	0.56142	0.322230723748	0.31824	0.23937413898328397	0.23851	0.263554880307	0.28907	0.1906593889	0.00237	T	0.00975	0.08853	T	-0.193008	0.21819	T	-0.515019	0.20801	T	0.594590751894161	0.36187	D	0.288971	0.05229	T	0.41505137	0.61761	0.39946604	0.64509	0.41505137	0.61761	0.39946604	0.64509	-6.445	0.49860	T	.	.	0.138	0.30157	B	.	.	2.494111	0.32184	18.97	0.99508154739464083	0.68440	0.20672	0.21127	N	AEFDGBI	0.139912	0.26167	N	-0.111303303644668	0.36901	2.139253	-0.295536078505764	0.28245	1.573318	2.61761924351968E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.898	0.18397	-2.016000	0.01534	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.3872:0.165:0.4478:0.0	4.274	0.10246	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	147.83	35	chr11	124543115	.	G	C	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.787;DP=347;ExcessHet=0;FS=63.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.78;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,16:157:99:0|1:124543114_G_C:158,0,5836:124543114	5	0	1	0
chr11	124543117	124543117	T	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.A538G:p.I180V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000915162117027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.194	0.28120	T	0.023	0.18885	B	0.075	0.28327	B	0.000936	0.41028	D	0.106396	1	0.08975	N	0.26	0.09897	N	1.2	0.37405	T	-0.77	0.21429	N	0.151	0.15469	-1.0548	0.13093	T	0.051	0.21495	T	10	0.058408618	0.06863	T	9.15E-4	0.00866	T	0.033	0.08068	0.448	0.50793	0.246215685461	0.24236	0.13532409978128015	0.13456	0.0797031402011	0.08973	0.184776574373	0.00146	T	0.002821	0.02217	T	-0.244876	0.14733	T	-0.589524	0.13707	T	0.0977144622217092	0.12103	T	0.311269	0.06060	T	0.094788544	0.22293	0.117111675	0.28271	0.094788544	0.22293	0.117111675	0.28270	-4.715	0.33585	T	.	.	0.112	0.22098	B	.	.	1.434048	0.18528	13.78	0.89219603918313006	0.18611	0.10904	0.16273	N	AEFDGBI	0.096365	0.19454	N	-0.7935681210597	0.13476	0.6641812	-0.804838796942842	0.14379	0.7509723	2.36939615891188E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.067	0.13675	-0.426000	0.07076	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.1581:0.1864:0.3264:0.329	0.889	0.01171	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	138.83	35	chr11	124543117	.	T	C	138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.372;DP=347;ExcessHet=0;FS=61.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.91;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:124543114_G_C:149,0,5970:124543114	5	0	1	0
chr11	124543118	124543118	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C537G:p.D179E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00243060443032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.05	0.48080	T	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	0.999995	0.08975	N	1.29	0.32370	L	8.82	0.00043	T	-3.28	0.65627	D	0.335	0.37613	-0.9437	0.42025	T	0.001	0.00255	T	10	0.2138415	0.37888	T	0.002431	0.04785	T	0.148	0.39182	0.553	0.66995	0.193865811164	0.18958	0.21688866997228415	0.21604	0.366285121553	0.38205	0.273982226849	0.06666	T	0.017134	0.14032	T	-0.197766	0.21128	T	-0.521853	0.20108	T	0.972437977790833	0.69698	D	0.734227	0.35027	T	0.2573267	0.48777	0.22987992	0.48074	0.2573267	0.48777	0.22987992	0.48073	-5.946	0.45825	T	.	.	0.400	0.59572	A	.	.	2.324053	0.29762	18.23	0.99169752462909566	0.54355	0.14033	0.18186	N	AEFDGBI	0.143790	0.26659	N	-0.519821488451533	0.21440	1.13781	-0.75270287411912	0.15656	0.8244833	0.00384020298793938	0.10299	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-4.5	0.03247	-0.779000	0.04764	.	.	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.6846:0.0:0.1963:0.119	8.990	0.35178	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	138.83	35	chr11	124543118	.	G	C	138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.61;DP=347;ExcessHet=0;FS=61.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.01;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:124543114_G_C:149,0,5970:124543114	5	0	1	0
chr11	124543119	124543119	T	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.A536G:p.D179G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.00299327874205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	0.836432	0.34998	D	3.835	0.95663	H	8.57	0.00181	T	-6.53	0.91741	D	0.82	0.81559	-0.9721	0.36755	T	0.003	0.00961	T	10	0.8428575	0.83443	D	0.002993	0.06398	T	0.264	0.57741	0.621	0.75576	0.548865971634	0.54542	0.5401960934715023	0.53944	0.422013843895	0.42705	0.264957308769	0.05496	T	0.019277	0.15390	T	0.0916031	0.63369	D	-0.106195	0.62913	T	0.999022483825684	0.95923	D	0.839216	0.51320	T	0.955386	0.96812	0.95086056	0.98451	0.955386	0.96813	0.95086056	0.98451	-8.012	0.61152	D	.	.	0.402	0.59672	A	.	.	4.878683	0.79994	27.2	0.99842091114186371	0.92229	0.98494	0.83372	D	AEFDGBI	0.577003	0.57877	D	0.808314500698501	0.86624	8.945297	0.665388030426359	0.79759	7.151205	0.221439213998035	0.18359	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	3.89	0.44098	5.975000	0.70167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.643	0.56079	627	0.65350	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	141.83	35	chr11	124543119	.	T	C	141.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.685;DP=348;ExcessHet=0;FS=61.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=2.12;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,16:159:99:0|1:124543114_G_C:152,0,5928:124543114	5	0	1	0
chr11	124669399	124669399	C	T	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon2:c.G190A:p.G64S,SIAE:NM_001199922:exon4:c.G85A:p.G29S	.	418	1083	21	0	0	21	0.00960219	.	.	.	712681	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0037	0.0247604	0.0098	0.0120	0.0022	0.0987	0.0047	0.0011	0.0099	0.0042	0.0093272	1442	154602	rs76655561	0.0052	0.0052	0.0051	0.0053	0.1248	0.0051	0.0051	0.1219	0.1207	0.0134	0.0023	0.0101	0.1248	0.0037	0.0045	0.0005	0.0099	0.0058	0.0080	0.0081	0.0069	0.0093	0.0916	0.0077	0.0075	0.0848	0.0821	0.0125	0	0.0039	0.0075	0.0916	0.0043	0.0034	0.0007	0.0057	0.0069	0.503	0.07670	T	0.663	0.13993	T	0.009	0.15093	B	0.006	0.12992	B	0.977181	0.08118	N	0.990483	1	0.08975	N	2.175	0.60977	M	-1.87	0.84415	D	-0.5	0.15782	N	0.095	0.07535	-1.0507	0.14203	T	0.013	0.05225	T	10	0.0014519095	0.00016	T	.	.	.	0.117	0.32689	.	.	0.389439708392	0.38560	0.454492101802207	0.45367	0.134854276219	0.15193	0.250621259212	0.03833	T	0.054768	0.29816	T	-0.583166	0.00184	T	-0.492322	0.23148	T	0.00193267408650194	0.00020	T	0.573543	0.20534	T	0.020574238	0.00621	0.031256612	0.01689	0.02468573	0.01325	0.031256612	0.01689	-5.985	0.48245	T	.	.	0.076	0.11797	B	.;.;.	.;.;.	0.693643	0.10624	7.325	0.93922004140430759	0.23965	0.05889	0.11838	N	AEFDGBHCI	0.064714	0.12583	N	-1.04389303044839	0.07709	0.3589937	-1.02633532765268	0.09207	0.45682	0.999983822415864	0.51787	0.77792	0.99625	0	0.68618	0.66647	0	0.659943	0.59835	0	0.825845	0.99933	0	.	.	5.4	0.239	0.14746	0.328000	0.19425	.	.	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.891000	0.42908	0.1259:0.5439:0.122:0.2083	2.954	0.05513	817	0.41665	.;.;.	.	.	.	.	rs76655561	Likely benign	0	0	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	0.010070	0.005051	0.013587	0.005848	0.050000	0.017241	0.009146	0.000000	0.08333	1056.83	37	chr11	124669399	.	C	T	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.306;DP=289;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-2.386;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1131	5	0	1	0
chr11	125777489	125777489	A	G	exonic	PATE2	.	nonsynonymous SNV	PATE2:NM_212555:exon4:c.T235C:p.S79P	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.648	0.147586393632	.	.	9.901e-05	0	0	0	0	0.0002	0	6.058e-05	8.41e-05	13	154602	rs749172683	5.953e-05	5.951e-05	5.038e-05	6.877e-05	0.0007	4.884e-05	4.562e-05	0.0002	0.0001	0	0	0.0016	0	0	0.0007	1.349e-05	0.0002	0.0001	7.232e-05	7.225e-05	5.141e-05	9.422e-05	0.0002	3.973e-05	3.129e-05	4.88e-06	1.83e-06	0	0	0	0.0023	0	0	0	2.941e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002897	0.35770	N	0.128963	0.567848	0.31203	N	2.215	0.62545	M	-3.1	0.92667	D	-3.53	0.75695	D	0.538	0.70702	0.870	0.95280	D	0.845	0.94816	D	10	0.24269801	0.41471	T	0.147586	0.82960	D	0.648	0.86686	0.305	0.27485	0.765747982069	0.76361	0.6458868688036026	0.64523	0.339029982443	0.35864	0.52401804924	0.42192	T	0.247038	0.61661	T	0.285791	0.81807	D	0.375396	0.91268	D	0.217635106527815	0.21345	T	0.684832	0.29327	T	0.73039335	0.79746	0.6674818	0.80498	0.73039335	0.79747	0.6674818	0.80499	-7.58	0.58171	D	.	.	0.986	0.92504	P	.;.	.;.	4.351603	0.66846	25.0	0.99806965320043173	0.89085	0.67739	0.33542	D	ALL	0.413276	0.48301	N	0.643351494965573	0.75940	6.395468	0.593475389706485	0.74471	6.142581	0.999999998860204	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.616919	0.45865	0	.	.	5.07	5.07	0.68106	2.051000	0.40932	6.197000	0.54843	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	11.404	0.49126	560	0.71333	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1232.83	34	chr11	125777489	.	A	G	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.637;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.69;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	5	0	1	0
chr11	126010479	126010479	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon8:c.C1414G:p.P472A,CDON:NM_001378964:exon8:c.C1414G:p.P472A,CDON:NM_016952:exon8:c.C1414G:p.P472A	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1516	6	0	0	6	0.00197498	.	.	.	319329	Holoprosencephaly_11|not_provided|CDON-related_disorder	MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0106028722216	.	.	0.0004	9.61e-05	8.637e-05	0	0	5.994e-05	0.0011	0.0027	0.0003363	52	154602	rs750020763	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	6.708e-05	0	0	0	0.0003	2.788e-05	0.0003	0.0028	0.0001	0.0001	0.0001	0.0001	0.0012	8.668e-05	7.259e-05	0.0005	0.0004	0	0	0.0004	0.0003	0	0	0	8.819e-05	0.0005	0.0012	0.011	0.55530	D	0.167	0.30729	T	0.364	0.33988	B	0.245	0.38823	B	0.000104	0.50451	D	0.000000	0.530445	0.31971	D	1.185	0.30054	L	1.64	0.27822	T	-1.57	0.37955	N	0.523	0.55280	-0.9302	0.44109	T	0.074	0.29770	T	10	0.02493	0.00704	T	0.010603	0.27324	T	0.101	0.28911	.	.	0.499793596984	0.49617	0.3457944210950435	0.34493	0.356941210766	0.37425	0.375721037388	0.21649	T	0.27243	0.64482	T	-0.419426	0.01725	T	-0.378617	0.35885	T	0.0752454371736955	0.09368	T	0.767423	0.39577	T	0.093708575	0.22014	0.13524885	0.32387	0.10877019	0.25716	0.13014051	0.31276	-4.537	0.31369	T	0.2892237561204022	0.38557	0.182	0.46848	B	.;.	.;.	2.890079	0.38275	20.7	0.98582081111432085	0.43258	0.93541	0.58498	D	AEFBI	0.452713	0.50615	N	0.0331709747973028	0.43370	2.631184	0.133162257327563	0.46254	2.874541	0.833578892570875	0.24736	0.553676	0.25195	0	0.588015	0.36545	0	0.566861	0.19136	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	3.858000	0.55690	6.541000	0.55884	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.207000	0.22098	0.0:0.0:0.8452:0.1548	13.723	0.62221	870	0.31527	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	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	1112.83	34	chr11	126010479	.	G	C	1112.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.492;DP=263;ExcessHet=0;FS=10.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.408;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr11	128486110	128486110	G	A	exonic	ETS1	.	nonsynonymous SNV	ETS1:NM_001330451:exon4:c.C440T:p.P147L,ETS1:NM_005238:exon4:c.C440T:p.P147L,ETS1:NM_001143820:exon6:c.C572T:p.P191L	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00881096584523	7.7e-05	.	3.305e-05	0.0004	0	0	0	0	0	0	4.53e-05	7	154602	rs138956441	1.781e-05	1.847e-05	2.182e-05	1.377e-05	0.0005	1.239e-05	1.053e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0.0001	0	9.856e-05	9.845e-05	0.0001	8.064e-05	0.0004	6.006e-05	4.88e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.048	0.41637	D	0.275	0.25210	T	0.002	0.09854	B	0.002	0.06944	B	0.442179	0.12613	N	0.774566	1	0.81001	D	1.39	0.34934	L	2.75	0.44856	T	-1.36	0.35597	N	0.238	0.27435	-1.0881	0.05856	T	0.091	0.34737	T	10	0.09655687	0.17327	T	0.008811	0.23245	T	0.096	0.27654	.	.	0.536393136767	0.53290	0.6585819998863615	0.65795	0.409640644394	0.41775	0.430390119553	0.29261	T	0.497023	0.81907	T	-0.327003	0.06340	T	-0.428058	0.30156	T	0.253806544656764	0.23043	T	0.953905	0.82456	D	0.1015415	0.23985	0.10449677	0.25098	0.1015415	0.23985	0.10449677	0.25097	-5.451	0.41407	T	.	.	0.071	0.08081	B	.;.;.;.	.;.;.;.	4.110533	0.61357	24.3	0.99052457132097382	0.51275	0.98466	0.83072	D	AEFDBI	0.874873	0.79797	D	-0.132074800637487	0.36000	2.075132	-0.000434391451302515	0.39697	2.357647	0.999999980969128	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	3.88	0.43959	9.446000	0.96756	11.759000	0.95586	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1261:0.7427:0.1313	12.746	0.56658	957	0.09725	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	864.83	39	chr11	128486110	.	G	A	864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=259;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.98;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr11	128974465	128974465	C	T	exonic	ARHGAP32	.	nonsynonymous SNV	ARHGAP32:NM_014715:exon11:c.G1643A:p.R548Q,ARHGAP32:NM_001142685:exon20:c.G2690A:p.R897Q,ARHGAP32:NM_001378025:exon20:c.G2570A:p.R857Q,ARHGAP32:NM_001378024:exon21:c.G2732A:p.R911Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00482758295936	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.88e-05	6	154602	rs777428169	4.104e-05	4.104e-05	3.947e-05	4.263e-05	0.0002	3.244e-05	2.919e-05	3.89e-05	3.49e-05	2.987e-05	0	0	0	0	0.0002	4.946e-05	3.311e-05	1.159e-05	6.573e-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	0.005	0.63226	D	0.341	0.25210	T	0.968	0.56581	D	0.34	0.42389	B	0.029260	0.25481	N	0.404750	0.640048	0.33660	D	2.32	0.66415	M	2.28	0.17271	T	-0.97	0.31981	N	0.36	0.48319	-0.9806	0.34863	T	0.051	0.21611	T	10	0.17145583	0.31865	T	0.004828	0.12098	T	0.070	0.20419	.	.	0.176862962021	0.17281	0.2935970914253194	0.29272	0.597621039819	0.54949	0.465313434601	0.34039	T	0.12998	0.45859	T	-0.233693	0.16164	T	-0.387556	0.34838	T	0.264399349586185	0.23507	T	0.89651	0.63872	D	0.1312629	0.30602	0.09601001	0.22794	0.1312629	0.30602	0.09601001	0.22793	-5.64	0.46129	T	.	.	0.128	0.34183	B	.;.;.;.	.;.;.;.	4.319276	0.66095	24.9	0.99902832979210143	0.97426	0.94802	0.62379	D	AEFDGBI	0.533440	0.55289	D	0.482708404708062	0.66082	4.904149	0.559429318833226	0.72057	5.750031	0.999996059663857	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	3.463000	0.52814	6.033000	0.52942	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9309:0.0:0.0691	15.232	0.73091	557	0.71576	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1931.83	34	chr11	128974465	.	C	T	1931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=338;ExcessHet=0;FS=2.023;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.658;SOR=0.849	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1942,0,2133	5	0	1	0
chr11	130126747	130126747	A	C	exonic	APLP2	.	nonsynonymous SNV	APLP2:NM_001142278:exon4:c.A451C:p.T151P,APLP2:NM_001382546:exon4:c.A451C:p.T151P,APLP2:NM_001382539:exon6:c.A796C:p.T266P,APLP2:NM_001382540:exon6:c.A796C:p.T266P,APLP2:NM_001382541:exon6:c.A682C:p.T228P,APLP2:NM_001382542:exon6:c.A670C:p.T224P,APLP2:NM_001382543:exon6:c.A682C:p.T228P,APLP2:NM_001382545:exon6:c.A682C:p.T228P,APLP2:NM_001142277:exon7:c.A970C:p.T324P,APLP2:NM_001328682:exon7:c.A970C:p.T324P,APLP2:NM_001328685:exon7:c.A970C:p.T324P,APLP2:NM_001382533:exon7:c.A964C:p.T322P,APLP2:NM_001382534:exon7:c.A970C:p.T324P,APLP2:NM_001382535:exon7:c.A985C:p.T329P,APLP2:NM_001382536:exon7:c.A964C:p.T322P,APLP2:NM_001382537:exon7:c.A970C:p.T324P,APLP2:NM_001382538:exon7:c.A850C:p.T284P,APLP2:NM_001142276:exon8:c.A1138C:p.T380P,APLP2:NM_001243299:exon8:c.A1168C:p.T390P,APLP2:NM_001328684:exon8:c.A1138C:p.T380P,APLP2:NM_001328686:exon8:c.A1039C:p.T347P,APLP2:NM_001382526:exon8:c.A1138C:p.T380P,APLP2:NM_001382527:exon8:c.A1138C:p.T380P,APLP2:NM_001382528:exon8:c.A1153C:p.T385P,APLP2:NM_001382529:exon8:c.A1138C:p.T380P,APLP2:NM_001382530:exon8:c.A1138C:p.T380P,APLP2:NM_001382531:exon8:c.A1006C:p.T336P,APLP2:NM_001382532:exon8:c.A1039C:p.T347P,APLP2:NM_001642:exon8:c.A1138C:p.T380P	.	.	.	.	.	.	.	.	.	.	.	4001634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.373	0.064716279829	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775513233	9.577e-06	9.577e-06	8.167e-06	1.1e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	3.478e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.56456	D	0.015	0.72224	D	0.997	0.77913	D	0.936	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	0.92	0.44461	T	-2.8	0.63438	D	0.624	0.63883	-0.5602	0.66396	T	0.255	0.62473	T	10	0.7485805	0.75468	D	0.064716	0.69360	D	0.373	0.69188	.	.	0.573403979865	0.57007	0.4848966730365046	0.48409	0.544725754754	0.51518	0.668199181557	0.62581	T	0.358713	0.72523	T	0.162582	0.70439	D	0.092616	0.76420	D	0.961297273635864	0.66042	D	0.890411	0.67021	D	0.89043593	0.90545	0.73023474	0.84060	0.89043593	0.90546	0.73023474	0.84061	-10.608	0.78951	D	.	.	0.640	0.78046	P	.;.;.;.;.;.	.;.;.;.;.;.	4.776212	0.77372	26.7	0.9973839806478596	0.83337	0.98519	0.83646	D	AEFDBI	0.975266	0.99609	D	0.690935549125868	0.79039	6.994156	0.679894129336637	0.80854	7.392418	0.999999997930384	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	6.960000	0.75832	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.586	0.67920	586	0.69252	Amyloidogenic glycoprotein, E2 domain;.;Amyloidogenic glycoprotein, E2 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1022.83	36	chr11	130126747	.	A	C	1022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.332;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.432;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	5	0	1	0
chr11	134249854	134249854	C	A	exonic	THYN1	.	stopgain	THYN1:NM_014174:exon4:c.G358T:p.E120X,THYN1:NM_001037304:exon5:c.G358T:p.E120X,THYN1:NM_001037305:exon5:c.G358T:p.E120X,THYN1:NM_199297:exon5:c.G358T:p.E120X,THYN1:NM_199298:exon5:c.G358T:p.E120X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	5.768e-05	0	0	0	0	8.996e-05	0.0011	0	4.53e-05	7	154602	rs374823032	3.694e-05	3.694e-05	3.267e-05	4.125e-05	1.619e-05	2.894e-05	2.592e-05	1.012e-05	8.35e-06	0	0	0.0010	0	0	0	1.619e-05	0.0002	0	5.91e-05	5.905e-05	3.855e-05	8.058e-05	4.41e-05	3.076e-05	2.209e-05	1.171e-05	6.25e-06	0	0	0	0.0012	0	0	0.0034	4.41e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000472	0.44119	D	0.255709	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.416	0.45615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504261	0.94428	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.	High;High;High;.	8.181803	0.97268	37	0.99686159943244956	0.79574	0.94569	0.61593	D	AEFBI	0.108153	0.21524	N	0.643573383462916	0.75954	6.398037	0.46714893464159	0.65827	4.873054	0.999987640344917	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	2.1	0.26226	2.860000	0.48071	1.274000	0.25309	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.5788:0.4212:0.0	15.662	0.76952	856	0.34373	EVE domain;EVE domain;EVE 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	.	.	.	.	.	.	.	.	0.08333	1114.83	35	chr11	134249854	.	C	A	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.244;DP=288;ExcessHet=0;FS=1.597;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-2.183;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	5	0	1	0
chr12	914041	914041	C	T	exonic	RAD52	.	nonsynonymous SNV	RAD52:NM_001297421:exon9:c.G817A:p.D273N,RAD52:NM_001297419:exon11:c.G1048A:p.D350N,RAD52:NM_134424:exon11:c.G1048A:p.D350N	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00662625537936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867412462	1.163e-05	1.231e-05	6.806e-06	1.65e-05	0.0021	7.08e-06	5.79e-06	0.0012	0.0009	2.987e-05	0	0	0	0	0.0021	2.698e-06	1.656e-05	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.044	0.41096	D	0.444	0.13177	T	0.001	0.07471	B	0.001	0.04355	B	0.393406	0.13224	N	0.754801	0.99604	0.23130	N	0.345	0.11182	N	1.95	0.22474	T	-0.44	0.14588	N	0.089	0.06720	-1.0938	0.04929	T	0.053	0.22501	T	10	0.09975085	0.18123	T	0.006626	0.17472	T	0.051	0.14325	.	.	0.542053899377	0.53859	0.0434218068131532	0.04287	0.110484150169	0.12470	0.280847519636	0.07611	T	0.063656	0.32232	T	-0.372839	0.03453	T	-0.757848	0.03190	T	0.102955372299661	0.12679	T	0.510849	0.16306	T	0.09343841	0.21945	0.06043039	0.11507	0.09343841	0.21945	0.06043039	0.11507	-3.723	0.19658	T	.	.	0.072	0.04238	B	.;.	.;.	1.695632	0.21600	15.27	0.98945165919826261	0.49016	0.72844	0.35642	D	AEFDBHCIJ	0.109441	0.21737	N	-0.456482749938135	0.23521	1.263682	-0.347782074774469	0.26577	1.468948	0.999985589763337	0.51787	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	0.681000	0.25001	1.871000	0.29387	0.524000	0.24156	0.889000	0.31176	0.995000	0.32472	0.013000	0.09966	0.0:0.7529:0.16:0.0871	8.384	0.31649	499	0.76092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1661.83	129	chr12	914041	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.69;DP=305;ExcessHet=0;FS=2.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.1;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	5	0	1	0
chr12	1786064	1786064	G	T	exonic	ADIPOR2	.	nonsynonymous SNV	ADIPOR2:NM_001375365:exon8:c.G1153T:p.A385S,ADIPOR2:NM_024551:exon8:c.G1153T:p.A385S,ADIPOR2:NM_001375363:exon9:c.G1252T:p.A418S,ADIPOR2:NM_001375364:exon9:c.G1153T:p.A385S	.	428	1084	9	1	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00378159878022	0.0014	0.00199681	0.0020	9.632e-05	0.0002	0	0.0002	0.0015	0	0.0088	0.0019857	307	154602	rs139431821	0.0025	0.0025	0.0023	0.0026	0.0085	0.0024	0.0024	0.0080	0.0078	0.0002	0.0006	3.827e-05	0	0.0003	0.0047	0.0024	0.0018	0.0085	0.0011	0.0011	0.0010	0.0012	0.0060	0.0010	0.0009	0.0043	0.0037	0.0002	0	0.0009	0	0	9.425e-05	0.0034	0.0017	0	0.0060	0.405	0.10311	T	0.475	0.12072	T	0.008	0.14655	B	0.007	0.12992	B	0.010451	0.29920	N	0.393157	0.992871	0.23810	N	.	.	.	2.22	0.18248	T	-0.77	0.21429	N	0.247	0.27910	-0.9885	0.32978	T	0.029	0.12322	T	10	0.0050210655	0.00108	T	0.003782	0.08806	T	0.057	0.16321	.	.	0.311241185304	0.30733	0.6369938101678874	0.63633	0.795949409878	0.66043	0.42763376236	0.28886	T	0.16666	0.51299	T	-0.534483	0.00361	T	-0.534693	0.18820	T	0.000968187312705358	0.00009	T	.	.	.	0.032844402	0.03389	0.047884136	0.06995	0.032844402	0.03388	0.047884136	0.06994	-3.746	0.20000	T	.	.	0.061	0.01109	B	.	.	2.687411	0.35076	19.80	0.95206705199647834	0.26407	0.99135	0.91741	D	AEFBI	0.605565	0.59623	D	-0.257386744464198	0.30808	1.721418	-0.0949683362678949	0.35597	2.061405	0.606421852350769	0.21768	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.6	0.30173	1.829000	0.38760	7.481000	0.59259	0.676000	0.76740	0.752000	0.29155	1.000000	0.68203	0.999000	0.91618	0.2178:0.0:0.7822:0.0	10.031	0.41271	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.003788	0.08333	554.83	35	chr12	1786064	.	G	T	554.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.531;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.429;SOR=0.765	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	5	0	1	0
chr12	2679471	2679471	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129838:exon41:c.G5143A:p.V1715I,CACNA1C:NM_001129839:exon41:c.G5137A:p.V1713I,CACNA1C:NM_001129846:exon41:c.G5086A:p.V1696I,CACNA1C:NM_001167625:exon41:c.G5086A:p.V1696I,CACNA1C:NM_000719:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129829:exon42:c.G5242A:p.V1748I,CACNA1C:NM_001129830:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129833:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129834:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129835:exon42:c.G5176A:p.V1726I,CACNA1C:NM_001129836:exon42:c.G5170A:p.V1724I,CACNA1C:NM_001129840:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129841:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129842:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129843:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129844:exon42:c.G5110A:p.V1704I,CACNA1C:NM_001167623:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001167624:exon42:c.G5119A:p.V1707I,CACNA1C:NM_001129831:exon43:c.G5203A:p.V1735I,CACNA1C:NM_001129832:exon43:c.G5179A:p.V1727I,CACNA1C:NM_001129827:exon44:c.G5263A:p.V1755I,CACNA1C:NM_199460:exon44:c.G5263A:p.V1755I	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	188609	not_specified|not_provided|Long_QT_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.502	0.173233641019	8.1e-05	0.000199681	0.0007	0	0.0005	0	0	0.0008	0	0.0016	0.0002652	41	154602	rs147896322	0.0002	0.0002	0.0002	0.0002	0.0051	0.0002	0.0002	0.0037	0.0032	6.063e-05	0.0002	8.041e-05	7.682e-05	1.923e-05	0.0051	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0004	0.152	0.25255	T	0.564	0.13140	T	0.999	0.90584	D	0.987	0.82059	D	0.000000	0.00162	N	135.237000	0.999999	0.58761	D	2.32	0.66415	M	-3.92	0.96308	D	-0.59	0.17624	N	0.664	0.70615	0.500	0.90549	D	0.935	0.97846	D	10	0.15100849	0.28552	T	0.173234	0.84999	D	0.502	0.78475	.	.	0.846321943348	0.84484	0.4400439593453724	0.43921	0.425654640639	0.42967	0.617051482201	0.55312	T	0.004665	0.11001	T	0.00869578	0.52846	T	0.0806911	0.75624	D	0.0925779055125915	0.11520	T	.	.	.	.	.	.	.	.	.	.	.	-4.754	0.35825	T	.	.	0.126	0.35829	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.963306	0.82083	27.7	0.99848922393875916	0.92838	0.98787	0.86849	D	AEFDBI	0.926719	0.90827	D	0.505362786194092	0.67405	5.077439	0.512934559137171	0.68858	5.278617	0.999999999947849	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.301000	0.95253	11.722000	0.94835	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.178	0.86727	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Likely benign	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	1	0	0.002520	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.003788	0.08333	506.83	34	chr12	2679471	.	G	A	506.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.86;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.697;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	5	0	1	0
chr12	4536126	4536126	A	C	exonic	C12orf4	.	nonsynonymous SNV	C12orf4:NM_001304811:exon2:c.T69G:p.S23R,C12orf4:NM_001346153:exon2:c.T69G:p.S23R,C12orf4:NM_001346155:exon2:c.T69G:p.S23R,C12orf4:NM_020374:exon2:c.T69G:p.S23R	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00197417573918	.	.	3.309e-05	0	0	0	0	6.022e-05	0	0	3.23e-05	5	154602	rs770600328	4.403e-05	4.446e-05	3.697e-05	5.117e-05	0.0033	3.529e-05	3.211e-05	0.0022	0.0018	0	2.285e-05	0	0	0	0.0033	3.431e-05	8.328e-05	1.177e-05	2.629e-05	2.626e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.318	0.13654	T	0.578	0.08565	T	0.0	0.02946	B	0.0	0.01387	B	0.437818	0.12665	N	0.778139	1	0.08975	N	0.205	0.09354	N	.	.	.	-0.64	0.18670	N	0.101	0.09349	-1.0467	0.15332	T	0.054	0.22693	T	9	0.053230733	0.05480	T	0.001974	0.03535	T	0.075	0.21907	0.33	0.31519	0.16115917748	0.15686	0.36726760890471444	0.36640	0.385382303025	0.39828	.	.	.	0.02519	0.18883	T	-0.285489	0.10094	T	-0.537803	0.18512	T	0.0152273080306667	0.00334	T	0.50325	0.15827	T	0.051039334	0.09314	0.041168075	0.04617	0.051039334	0.09314	0.041168075	0.04617	-4.386	0.29367	T	0.16011408176118275	0.19512	0.132	0.29505	B	.;.	.;.	1.136054	0.15231	11.69	0.96494761162784215	0.30020	0.20834	0.21185	N	AEFGBI	.	.	.	-0.866993876245138	0.11635	0.5625212	-0.866531271648138	0.12891	0.6657232	0.999973062761895	0.50053	0.732398	0.92422	0	0.80507	0.99744	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.91	-3.39	0.04563	0.784000	0.26477	1.850000	0.29250	0.750000	0.87069	0.208000	0.24400	0.540000	0.25410	0.995000	0.73285	0.4258:0.1008:0.1523:0.321	1.221	0.01806	876	0.30350	.;.	.	.	.	.	.	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	0.002518	0.010101	0.000000	0.008772	0.000000	0.008621	0.006098	0.000000	0.08333	629.83	76	chr12	4536126	.	A	C	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.12;DP=255;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.526;SOR=0.826	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1017	5	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	457.03	76	chr12	4591261	.	G	C	457.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.555;DP=428;ExcessHet=1.383;FS=328.029;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=0.671;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,15:72:49:0|1:4591261_G_C:49,0,1648:4591261	3	0	3	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	39.91	76	chr12	4591262	.	T	C	39.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.669;DP=390;ExcessHet=0;FS=144.978;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.67;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,15:72:49:0|1:4591261_G_C:49,0,1648:4591261	4	0	1	1
chr12	4626804	4626804	A	0	exonic	AKAP3	.	.	.	.	433	800	251	33	5	322	0.165363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1941.98	113	chr12	4626804	.	A	*	1941.98	.	AC=2;AF=0.167;AN=12;DP=620;ExcessHet=0;FS=0.544;MLEAC=2;MLEAF=0.167;MQ=60;QD=8.33;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:96,0:96:99:.:.:0,120,1800:.	4	0	2	0
chr12	5952498	5952498	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G8008A:p.G2670S	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	.	1696197	von_Willebrand_disease_type_1	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.324	0.0680108071434	.	.	1.662e-05	0	0	0	0	1.508e-05	0	6.153e-05	1.29e-05	2	154602	rs746890802	6.157e-06	6.156e-06	6.807e-06	5.501e-06	4.638e-05	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001620	0.38497	N	0.000000	1	0.81001	D	3.08	0.87267	M	1.36	0.34452	T	-1.78	0.42001	N	0.566	0.58968	-0.6721	0.61733	T	0.229	0.59472	T	10	0.6733493	0.70845	D	0.068011	0.70330	D	0.324	0.64624	0.46	0.52753	0.832200640711	0.83060	0.857853137591115	0.85748	0.889460143212	0.70153	0.404747903347	0.25729	T	0.402356	0.75941	T	-0.097208	0.36887	T	-0.276779	0.47135	T	0.926382839679718	0.58864	D	0.926807	0.73035	D	0.1767578	0.38605	0.16763467	0.38662	0.1767578	0.38604	0.16763467	0.38661	-4.87	0.35396	T	0.64595562711054	0.71736	0.105	0.19235	B	.	.	4.682070	0.74937	26.2	0.99302091377747237	0.58686	0.90002	0.50847	D	AEFBCI	0.887853	0.82045	D	0.701365434973133	0.79721	7.138046	0.645350416251779	0.78264	6.841476	0.999899224578707	0.45129	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	5.943000	0.69923	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	16.919	0.86029	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1470.83	102	chr12	5952498	.	C	T	1470.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.789;DP=298;ExcessHet=0;FS=3.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.264;SOR=0.374	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1370	5	0	1	0
chr12	6775305	6775305	G	A	exonic	LAG3	.	nonsynonymous SNV	LAG3:NM_002286:exon5:c.G814A:p.A272T	.	.	.	.	.	.	.	.	.	.	.	3287025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00857452304103	.	0.000399361	0.0001	0	0	0.0016	0	0	0.0011	0.0002	0.0002264	35	154602	rs201431526	0.0001	0.0001	0.0001	9.763e-05	0.0006	9.333e-05	8.817e-05	0.0004	0.0003	0	4.472e-05	0	0.0006	0	0	2.068e-05	0.0016	0.0001	9.85e-05	9.843e-05	0.0001	6.714e-05	0.0008	6.003e-05	4.877e-05	0.0003	0.0002	0	0	0.0005	0	0.0008	0	0	0	0.0014	0.0002	0.044	0.41096	D	0.062	0.45744	T	0.946	0.53363	P	0.444	0.45865	B	0.020610	0.27003	N	0.358563	0.999926	0.19486	N	2.24	0.63355	M	2.58	0.13434	T	-2.82	0.59545	D	0.215	0.30687	-1.0891	0.05684	T	0.046	0.19919	T	10	0.034637064	0.01679	T	0.008575	0.22655	T	0.056	0.15993	.	.	0.484037581386	0.48037	0.39508536017025186	0.39423	0.230507053238	0.25597	0.372073888779	0.21129	T	0.223755	0.58800	T	-0.499675	0.00574	T	-0.564638	0.15944	T	0.0896608271975851	0.11178	T	0.688231	0.29741	T	0.10042278	0.23713	0.12167419	0.29356	0.10042278	0.23712	0.12167419	0.29355	-5.96	0.45943	T	.	.	0.094	0.14385	B	.;.	.;.	2.333375	0.29897	18.27	0.99679684050633799	0.79174	0.18293	0.20200	N	AEFDBI	0.076256	0.15336	N	-0.058220836103598	0.39236	2.310545	-0.127384332434635	0.34290	1.970829	0.99999950687419	0.74766	0.676563	0.55306	0	0.586065	0.33999	0	0.673471	0.61138	0	0.491896	0.07777	0	.	.	5.55	4.66	0.57857	1.826000	0.38730	2.986000	0.35860	0.662000	0.56354	0.389000	0.26079	0.951000	0.29025	0.101000	0.18331	0.0899:0.0:0.9101:0.0	10.520	0.44099	398	0.82839	.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	936.83	36	chr12	6775305	.	G	A	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.41;DP=232;ExcessHet=0;FS=8.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0;SOR=2.224	GT:AD:DP:GQ:PL	0/1:32,29:61:99:947,0,786	5	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P,CDCA3:NM_001297603:exon3:c.T130C:p.S44P,CDCA3:NM_001297604:exon3:c.T130C:p.S44P,CDCA3:NM_031299:exon3:c.T130C:p.S44P	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	0.008560	0.000000	0.008152	0.002924	0.000000	0.017241	0.009146	0.022727	0.08333	721.83	36	chr12	6850587	.	A	G	721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=236;ExcessHet=0;FS=2.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.557;SOR=0.36	GT:AD:DP:GQ:PL	0/1:33,27:60:99:732,0,836	5	0	1	0
chr12	7130691	7130691	G	T	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon1:c.G43T:p.A15S	.	423	1033	61	5	0	71	0.0332241	.	.	.	3547150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0036	0.00658946	0.0098	0.0103	0.0129	0	0	0.0058	0.0121	0.0176	0.0033182	513	154602	rs145190321	0.0031	0.0031	0.0027	0.0036	0.0178	0.0030	0.0030	0.0148	0.0142	0.0076	0.0043	0.0093	0.0001	0.0002	0.0178	0.0019	0.0055	0.0152	0.0044	0.0044	0.0046	0.0042	0.0143	0.0041	0.0040	0.0116	0.0106	0.0080	0.0011	0.0049	0.0095	0.0002	0.0002	0.0204	0.0020	0.0057	0.0143	0.442	0.10148	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.548015	0.11466	N	0.788204	1	0.08975	N	-0.895	0.01383	N	2.12	0.19726	T	0.07	0.07736	N	0.139	0.13769	-1.0680	0.09858	T	0.021	0.08778	T	10	0.0030443072	0.00050	T	.	.	.	0.021	0.04004	.	.	0.281547015583	0.27767	0.35854401661910473	0.35768	0.288253582573	0.31233	0.356690347195	0.18903	T	0.008913	0.23664	T	-0.598821	0.00148	T	-0.620618	0.11137	T	0.00108617581757987	0.00010	T	0.331367	0.07351	T	0.055753954	0.10880	0.04894971	0.07378	0.055753954	0.10879	0.04894971	0.07378	-3.093	0.11216	T	.	.	0.066	0.03887	B	.;.	.;.	0.665902	0.10342	7.072	0.62287856607396397	0.06924	0.12591	0.17362	N	AEFDGBCI	0.044641	0.07208	N	-1.19660380079444	0.05051	0.2293829	-1.15269521724595	0.06719	0.3243835	0.999999929559777	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.77	2.93	0.33092	0.670000	0.24838	1.292000	0.25419	-0.941000	0.02090	0.027000	0.20232	0.033000	0.21346	0.022000	0.11911	0.0:0.7049:0.193:0.1021	6.560	0.21676	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	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	0.013388	0.027174	0.010959	0.017647	0.000000	0.035088	0.006289	0.015267	0.08333	643.83	34	chr12	7130691	.	G	T	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.803;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	5	0	1	0
chr12	7374688	7374688	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon13:c.G3193A:p.G1065S,CD163L1:NM_174941:exon13:c.G3163A:p.G1055S	.	424	1077	21	0	0	21	0.00965517	.	.	.	2810157	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0062	0.00239617	0.0065	0.0015	0.0021	0.0001	0.0174	0.0086	0.0055	0.0034	0.0062548	967	154602	rs36206713	0.0071	0.0071	0.0070	0.0072	0.0142	0.0070	0.0070	0.0117	0.0108	0.0012	0.0021	0.0064	2.519e-05	0.0184	0.0142	0.0075	0.0059	0.0034	0.0062	0.0062	0.0059	0.0066	0.0088	0.0059	0.0058	0.0082	0.0080	0.0015	0	0.0024	0.0084	0.0002	0.0186	0	0.0088	0.0066	0.0029	0.005	0.65419	D	0.015	0.61642	D	1.0	0.90584	D	0.99	0.78936	D	0.000106	0.50451	U	0.000000	0.752324	0.33943	D	2.205	0.62170	M	1.31	0.35405	T	-4.77	0.81755	D	0.476	0.51137	-0.2793	0.75560	T	0.201	0.55751	T	10	0.005099505	0.00110	T	.	.	.	0.197	0.47942	.	.	0.627962894866	0.62492	0.760817663984721	0.76029	0.799598274206	0.66178	0.419091641903	0.27712	T	0.028122	0.20444	T	-0.395982	0.02460	T	-0.333616	0.41064	T	0.0351078157136981	0.02827	T	0.958304	0.84304	D	0.5070169	0.67506	0.49410108	0.70740	0.5070169	0.67507	0.49410108	0.70740	-7.192	0.55424	T	.	.	0.122	0.29505	B	.;.	.;.	2.279549	0.29148	18.03	0.99758193766545633	0.84851	0.22721	0.21841	N	ALL	0.300792	0.40949	N	0.157934643261304	0.49189	3.122013	-0.120415441172904	0.34567	1.98988	0.999999999999987	0.74766	0.696267	0.57585	0	0.615948	0.52940	0	0.440839	0.06518	1	0.629945	0.49285	0	.	.	2.52	2.52	0.29514	2.057000	0.40991	0.621000	0.20131	-0.260000	0.06918	0.004000	0.16614	0.008000	0.19753	0.003000	0.05239	0.0:1.0:0.0:0.0	11.120	0.47506	867	0.32089	SRCR domain|SRCR domain|SRCR domain|SRCR domain|SRCR-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.003788	0.08333	1451.83	34	chr12	7374688	.	C	T	1451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=348;ExcessHet=0;FS=1.565;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.133;SOR=0.777	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1246	5	0	1	0
chr12	9153262	9153262	C	T	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon30:c.G3856A:p.V1286I	.	203	1317	2	0	0	2	0.000758725	.	.	.	3898280	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0021764472071	0.0005	0.000998403	0.0004	0.0012	0.0002	0	0	0.0001	0.0011	0.0012	0.0003363	52	154602	rs151314973	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0.0016	6.708e-05	3.826e-05	0	1.872e-05	0.0010	6.925e-05	0.0003	0.0014	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0010	0.0009	0.0013	0	6.533e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	0.787056	0.09426	N	0.874660	1	0.08975	N	-0.59	0.02258	N	1.46	0.32238	T	0.4	0.03463	N	0.095	0.07535	-0.9564	0.39843	T	0.028	0.11838	T	10	0.005659014	0.00126	T	0.002176	0.04071	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.10446644774210533	0.10376	0.0677636181319	0.07582	0.282418996096	0.07832	T	0.047369	0.27703	T	-0.644746	0.00078	T	-0.734288	0.04136	T	0.00978835151630842	0.00129	T	0.524848	0.17228	T	0.0227124	0.00953	0.03842105	0.03707	0.0227124	0.00953	0.03842105	0.03706	-0.939	0.00934	T	.	.	0.056	0.00505	B	.	.	-0.366866	0.02340	0.252	0.29264151125153176	0.01543	0.00573	0.02594	N	AEFGBI	0.069735	0.13816	N	-1.85541208208297	0.00423	0.01820646	-1.84637992383341	0.00622	0.02763785	0.115833725367925	0.16765	0.549168	0.22868	0	0.55458	0.17659	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.92	-4.19	0.03573	-0.320000	0.08070	-6.121000	0.01490	-1.889000	0.00535	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6796:0.0:0.3204	14.186	0.65144	618	0.66225	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	950.83	40	chr12	9153262	.	C	T	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=281;ExcessHet=0;FS=1.992;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.021;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	5	0	1	0
chr12	10125341	10125341	G	T	exonic	CLEC7A	.	nonsynonymous SNV	CLEC7A:NM_197950:exon2:c.C211A:p.Q71K,CLEC7A:NM_022570:exon3:c.C310A:p.Q104K,CLEC7A:NM_197949:exon3:c.C310A:p.Q104K,CLEC7A:NM_197947:exon4:c.C448A:p.Q150K,CLEC7A:NM_197948:exon4:c.C448A:p.Q150K	Candidiasis, familial, 4, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00429355101762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219601495	6.843e-06	7.525e-06	5.447e-06	8.253e-06	0.0002	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	1.656e-05	0	6.576e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.15	0.50809	T	0.936	0.65571	P	0.81	0.64047	P	0.048939	0.23207	N	0.313183	0.934859	0.27788	N	1.53	0.38800	L	2.41	0.16640	T	-1.61	0.40468	N	0.328	0.40963	-1.1864	0.00284	T	0.070	0.28478	T	10	0.3556102	0.52318	T	0.004294	0.10404	T	0.120	0.33359	0.437	0.48993	0.596150557166	0.59293	0.3631063465657643	0.36224	0.0512428658498	0.05640	0.290709525347	0.09026	T	0.062342	0.31891	T	-0.221768	0.17753	T	-0.556331	0.16722	T	0.429087966680527	0.30027	T	0.865913	0.56597	D	0.31728613	0.54409	0.2062852	0.44835	0.31728613	0.54409	0.2062852	0.44834	-3.364	0.14576	T	.	.	0.090	0.18828	B	.;.;.;.;.	.;.;.;.;.	1.761290	0.22403	15.61	0.9836513810381613	0.40689	0.16350	0.19348	N	AEFDIJ	0.292124	0.40308	N	0.0872591396215003	0.45869	2.836336	0.0061090511578461	0.39997	2.380162	0.999917519429966	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	1.846000	0.38929	4.224000	0.42611	0.676000	0.76740	0.009000	0.18154	0.992000	0.31684	0.005000	0.06747	0.0:0.0:1.0:0.0	13.409	0.60376	889	0.27310	.;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1237.83	38	chr12	10125341	.	G	T	1237.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.496;DP=333;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.784;SOR=0.966	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.92	34	chr12	10407787	.	G	A	40.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.461;DP=459;ExcessHet=0;FS=169.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=-0.06;SOR=8.346	GT:AD:DP:GQ:PL	0/1:102,37:139:51:51,0,1521	5	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1667	63.06	90	chr12	10930916	.	C	T	63.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=344;ExcessHet=0.4139;FS=1.166;MLEAC=2;MLEAF=0.167;MQ=40.91;MQRankSum=-0.305;QD=0.42;ReadPosRankSum=0.743;SOR=0.858	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1069	4	0	2	0
chr12	11267441	11267441	G	0	exonic	PRB3	.	.	.	.	1030	18	92	373	9	847	0.95881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12772.5	159	chr12	11267441	.	G	*	12772.5	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.76;DP=573;ExcessHet=0;FS=6.265;MLEAC=1;MLEAF=0.125;MQ=56.86;MQRankSum=-0.537;QD=31.31;ReadPosRankSum=0.41;SOR=0.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:95:99:.:.:2764,2767,2793:.	3	0	1	2
chr12	11267457	11267583	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	0	exonic	PRB3	.	.	.	.	450	833	197	30	12	269	0.133645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8387.68	172	chr12	11267457	.	TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC	*	8387.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.597;DP=484;ExcessHet=0.1336;FS=7.52;MLEAC=1;MLEAF=0.083;MQ=53.73;MQRankSum=2.74;QD=24.24;ReadPosRankSum=-0.763;SOR=0.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	5	0	1	0
chr12	11267600	11267600	C	G	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.G649C:p.G217R	.	554	955	9	3	1	16	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00053745071027	0.0064	.	0.0006	0.0001	0.0003	0	0	0.0007	0.0012	0.0008	0.0002689	7	26028	rs200117404	0.0008	0.0012	0.0006	0.0011	0.0043	0.0008	0.0008	0.0039	0.0037	0.0001	0.0006	0.0042	0	0.0006	0.0021	0.0006	0.0013	0.0043	0.0002	0.0008	0.0002	0.0001	0.0006	9.821e-05	7.92e-05	7.303e-05	5.175e-05	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0002	0	0.0006	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.4	0.05642	T	-3.86	0.72471	D	0.071	0.04426	-1.0358	0.18606	T	0.018	0.07329	T	8	0.026720881	0.00833	T	5.37E-4	0.00196	T	0.067	0.19503	.	.	0.198526703765	0.19489	0.35037097652030363	0.34951	.	.	0.37344238162	0.21324	T	.	.	.	-0.129039	0.31651	T	-0.423132	0.30717	T	0.0773219913244247	0.09641	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.63095	A	.	.	1.017517	0.13970	10.53	0.69633306977402365	0.09035	0.01347	0.04625	N	AEFBI	0.035500	0.04579	N	-0.602537884583428	0.18867	0.9830366	-0.903160050699606	0.12020	0.6158615	1.66600023642478E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.25	-1.05	0.09523	-1.501000	0.02385	-7.541000	0.01135	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.2593:0.5495:0.0:0.1912	3.046	0.05780	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018538	0.005102	0.021739	0.016393	0.000000	0.025862	0.015244	0.034351	0.08333	186.83	77	chr12	11267600	.	C	G	186.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.485;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=47.39;MQRankSum=2.66;QD=6.03;ReadPosRankSum=-1.383;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,12:31:99:197,0,393	5	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6474.8	95	chr12	11353413	.	G	*	6474.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.87;DP=599;ExcessHet=0.1336;FS=6.282;MLEAC=2;MLEAF=0.2;MQ=47.74;MQRankSum=-1.37;QD=17.55;ReadPosRankSum=1.09;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:4,0:27:4:0|1:11353413_G_A:780,814,920:11353413	4	1	0	1
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3617.43	37	chr12	11353469	.	A	*	3617.43	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.37;DP=436;ExcessHet=0.1336;FS=9.74;MLEAC=2;MLEAF=0.2;MQ=50.42;MQRankSum=-4.582;QD=15.2;ReadPosRankSum=0.126;SOR=1.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:3,0:13:36:0|1:11353413_G_A:409,418,447:11353413	4	1	0	1
chr12	11393194	11393194	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB2:NM_006248:exon3:c.G884A:p.R295Q,PRB1:NM_001367912:exon4:c.G880A:p.E294K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000637035113161	.	0.00139776	0.0004	0.0039	8.639e-05	0.0002	0	3.029e-05	0	0.0001	0.0003363	52	154602	rs11054275	7.336e-05	7.322e-05	6.821e-05	7.856e-05	0.0018	6.195e-05	5.754e-05	0.0015	0.0013	0.0018	0.0001	0	2.527e-05	0	0.0005	1.441e-05	0.0003	4.657e-05	0.0003	0.0004	0.0004	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	0.0012	0	0	0	0	0	0	3.531e-05	0	0.0003	.	.	.	0.605	0.07816	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.69	0.04114	T	0.04	0.06488	N	0.086	0.06322	-0.9533	0.40398	T	0.003	0.00929	T	9	0.0067015886	0.00152	T	6.37E-4	0.00334	T	0.036	0.09122	.	.	0.0297737177859	0.01360	0.03580908256459517	0.03527	0.075177927071	0.08431	.	.	.	.	.	.	-0.727257	0.00025	T	-0.836445	0.01153	T	0.00484647137999677	0.00052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02733	B	.	.	0.634682	0.10029	6.783	0.73817819578110389	0.10466	0.00153	0.00922	N	AEFGI	0.016537	0.00378	N	-1.64118818452201	0.01073	0.0465542	-1.66889194358337	0.01282	0.05778512	3.98168178582866E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.36	-2.72	0.05616	-0.568000	0.06000	-2.254000	0.03992	-0.917000	0.02218	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.2416:0.2984:0.46	2.953	0.05508	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	.	.	.	.	.	.	.	.	0.08333	1424.83	50	chr12	11393194	.	C	T	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=318;ExcessHet=0;FS=11.84;MLEAC=1;MLEAF=0.083;MQ=54.28;MQRankSum=0.369;QD=12.28;ReadPosRankSum=-0.887;SOR=0.614	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1435,0,1210	5	0	1	0
chr12	12079577	12079577	C	T	exonic	BCL2L14	.	nonsynonymous SNV	BCL2L14:NM_030766:exon2:c.C272T:p.S91F,BCL2L14:NM_138722:exon2:c.C272T:p.S91F,BCL2L14:NM_138723:exon2:c.C272T:p.S91F,BCL2L14:NM_001370268:exon3:c.C272T:p.S91F,BCL2L14:NM_001370269:exon4:c.C272T:p.S91F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0150532298044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.0	0.92824	D	0.923	0.51194	P	0.504	0.47761	P	0.342260	0.13944	N	0.699702	0.649143	0.30767	N	1.975	0.53506	M	.	.	.	-3.92	0.73151	D	0.147	0.31702	-0.8614	0.51162	T	0.124	0.42715	T	8	0.14726964	0.27908	T	0.015053	0.35554	T	0.058	0.16647	0.329	0.31357	0.663349024458	0.66052	0.09272633789937687	0.09204	0.137095995171	0.15461	0.356887280941	0.18931	T	0.024125	0.40663	T	-0.127095	0.31967	T	-0.42034	0.31036	T	0.741057157516479	0.42794	D	.	.	.	0.086640045	0.20147	0.11554052	0.27891	0.086640045	0.20146	0.11554052	0.27890	-4.493	0.34847	T	.	.	0.258	0.52410	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.966546	0.39528	21.0	0.99690068847889501	0.79842	0.27384	0.23262	N	AEFDGBIJ	0.108912	0.21650	N	-0.129043300615446	0.36131	2.084401	-0.176944933523005	0.32385	1.842022	0.0287265827069164	0.13848	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.81	1.92	0.24912	0.781000	0.26435	1.890000	0.29511	0.599000	0.40250	0.624000	0.27948	0.006000	0.19429	0.979000	0.57723	0.2231:0.6591:0.0:0.1178	4.376	0.10704	956	0.09877	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	831.83	39	chr12	12079577	.	C	T	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.007;DP=260;ExcessHet=0;FS=5.516;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.131;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	5	0	1	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1591.03	91	chr12	12477735	.	C	*	1591.03	.	AC=1;AF=0.083;AN=12;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=17.48;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1342:.	5	0	1	0
chr12	12726053	12726053	G	C	exonic	APOLD1	.	nonsynonymous SNV	APOLD1:NM_001130415:exon1:c.G53C:p.R18P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0051435933458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-06	1.368e-06	1.419e-06	1.461e-06	3.226e-05	2.4e-07	9e-08	.	.	3.226e-05	0	0	0	0	0	0	1.741e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.541362	0.05316	U	1.755390	1	0.08975	N	0	0.06538	N	0.87	0.46412	T	-0.28	0.11547	N	0.123	0.11483	-1.0583	0.12184	T	0.042	0.17910	T	10	0.07300547	0.10973	T	0.005144	0.13063	T	0.044	0.11924	0.393	0.41770	0.358134431457	0.35428	0.22418974193990304	0.22333	.	.	0.561641097069	0.47499	T	0.003	0.02299	T	-0.274018	0.11313	T	-0.631385	0.10310	T	0.458283752202988	0.31102	T	0.360464	0.08297	T	0.20973332	0.43249	0.26736677	0.52593	0.20973332	0.43249	0.26736677	0.52592	-3.824	0.21164	T	.	.	0.095	0.15070	B	.	.	2.233519	0.28512	17.82	0.98058200547616214	0.37921	0.14978	0.18683	N	ALL	0.052494	0.09374	N	-1.17712768608242	0.05347	0.243533	-1.17505163409147	0.06329	0.3043049	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.9	-5.68	0.02240	0.146000	0.16000	0.082000	0.14403	0.672000	0.70159	0.917000	0.31872	0.014000	0.20376	0.905000	0.44082	0.2133:0.3244:0.152:0.3103	0.878	0.01150	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	.	.	.	.	.	.	.	.	0.1667	1002.04	34	chr12	12726053	.	G	C	1002.04	.	AC=2;AF=0.167;AN=12;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.83;SOR=1.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1050	5	1	0	0
chr12	13090602	13090602	C	T	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001080554:exon2:c.G265A:p.V89M,GSG1:NM_001080555:exon2:c.G265A:p.V89M,GSG1:NM_001206842:exon2:c.G265A:p.V89M,GSG1:NM_001206843:exon2:c.G226A:p.V76M,GSG1:NM_001206845:exon2:c.G226A:p.V76M,GSG1:NM_001367358:exon2:c.G265A:p.V89M,GSG1:NM_001367359:exon2:c.G265A:p.V89M,GSG1:NM_001367360:exon2:c.G265A:p.V89M,GSG1:NM_001367361:exon2:c.G265A:p.V89M,GSG1:NM_001367362:exon2:c.G265A:p.V89M,GSG1:NM_001367363:exon2:c.G265A:p.V89M,GSG1:NM_001367364:exon2:c.G265A:p.V89M,GSG1:NM_001368007:exon2:c.G226A:p.V76M,GSG1:NM_031289:exon2:c.G226A:p.V76M,GSG1:NM_153823:exon2:c.G226A:p.V76M	.	436	1071	13	2	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0206664809255	0.0012	0.00119808	0.0018	9.614e-05	0.0004	0	0	0.0022	0.0022	0.0040	0.0016494	255	154602	rs144983335	0.0013	0.0013	0.0011	0.0014	0.0066	0.0012	0.0012	0.0049	0.0044	0.0001	0.0008	0.0099	2.519e-05	9.36e-05	0.0066	0.0010	0.0016	0.0040	0.0011	0.0011	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0109	0.0002	0.0002	0.0068	0.0010	0.0033	0.0048	0.032	0.50132	D	0.006	0.72224	D	0.82	0.64070	P	0.446	0.57829	B	0.000569	0.43250	D	0.101500	0.966761	0.25879	N	2.31	0.66127	M	1.49	0.31470	T	-1.6	0.43334	N	0.233	0.45709	-0.8987	0.48125	T	0.153	0.48343	T	10	0.009343088	0.00211	T	0.020666	0.43310	T	0.102	0.29158	.	.	0.211220785272	0.20719	0.1817743636384318	0.18096	0.229546519496	0.25508	0.377721041441	0.21933	T	.	.	.	-0.403335	0.02201	T	-0.353612	0.38790	T	0.0944165238397986	0.11731	T	0.834417	0.50622	T	.	.	.	.	.	.	.	.	-5.467	0.47010	T	.	.	0.097	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.849589	0.37622	20.5	0.99754537399279275	0.84537	0.88277	0.48132	D	AEFBI	0.523014	0.54679	D	0.301132813179315	0.56206	3.785084	0.312670558490132	0.56283	3.791481	0.999910397921076	0.45857	0.428477	0.06694	0	0.491513	0.07743	0	0.468601	0.07175	0	0.613276	0.41899	0	.	.	5.55	4.64	0.57399	1.164000	0.31420	3.312000	0.37472	0.599000	0.40250	0.935000	0.32453	1.000000	0.68203	0.997000	0.79791	0.1317:0.7987:0.0:0.0695	10.748	0.45391	878	0.29785	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.08333	1181.83	35	chr12	13090602	.	C	T	1181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=280;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.522;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	5	0	1	0
chr12	14883027	14883027	T	G	exonic	MGP	.	nonsynonymous SNV	MGP:NM_000900:exon3:c.A115C:p.N39H,MGP:NM_001190839:exon4:c.A190C:p.N64H	Keutel syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265911	not_specified|Keutel_syndrome|not_provided|MGP-related_disorder	MedGen:CN169374|MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	.	0.0028	0.00179712	0.0026	0.0012	0.0054	0	0	0.0036	0	0.0001	0.0027296	422	154602	rs145210821	0.0032	0.0033	0.0033	0.0031	0.0042	0.0031	0.0031	0.0037	0.0035	0.0006	0.0042	0.0188	0	7.491e-05	0.0007	0.0034	0.0039	8.12e-05	0.0026	0.0026	0.0027	0.0025	0.0046	0.0024	0.0023	0.0037	0.0034	0.0008	0	0.0046	0.0196	0	0	0	0.0031	0.0014	0.0004	0.173	0.22573	T	0.163	0.31125	T	0.011	0.15914	B	0.003	0.08700	B	0.004324	0.33859	N	0.310110	0.999994	0.08975	N	2.08	0.57402	M	1.52	0.31470	T	-0.84	0.27259	N	0.189	0.21969	-1.0223	0.22965	T	0.046	0.19919	T	10	0.010787159	0.00239	T	.	.	.	0.049	0.13647	.	.	0.242825505644	0.23883	0.3487584296977536	0.34789	0.225593416189	0.25105	0.437129288912	0.30185	T	0.067021	0.33095	T	-0.552356	0.00282	T	-0.565245	0.15888	T	0.00184389542058699	0.00019	T	0.60234	0.22547	T	0.049345296	0.08747	0.044187997	0.05669	0.074742354	0.16794	0.05331705	0.08957	-4.083	0.26155	T	.	.	0.073	0.07318	B	.;.	.;.	0.857514	0.12299	8.839	0.88072018895376392	0.17695	0.42453	0.26881	N	AEFBI	0.341192	0.43775	N	-0.840292734461166	0.12289	0.5981308	-0.776581755167042	0.15069	0.7907179	0.0810446950174519	0.15863	0.643511	0.44296	0	0.547309	0.14657	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.48	1.77	0.23848	0.399000	0.20641	0.743000	0.21176	-0.671000	0.04298	0.926000	0.32145	1.000000	0.68203	0.307000	0.24666	0.2523:0.0:0.1566:0.5911	6.488	0.21295	692	0.58729	Gamma-carboxyglutamic acid-rich (GLA) domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1778.04	39	chr12	14883027	.	T	G	1778.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.15;SOR=1.107	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	5	1	0	0
chr12	14885769	14885769	G	A	exonic	MGP	.	nonsynonymous SNV	MGP:NM_000900:exon1:c.C23T:p.A8V,MGP:NM_001190839:exon1:c.C23T:p.A8V	Keutel syndrome, Autosomal recessive	1	1506	14	1	0	16	0.00528402	.	.	.	190292	not_specified|Keutel_syndrome|MGP-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009495,MedGen:C1855607,OMIM:245150,Orphanet:85202|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.0153754	0.0087	0.0013	0.0003	0.0258	0.0118	0.0013	0.0134	0.0393	0.0076454	1182	154602	rs142330429	0.0040	0.0040	0.0029	0.0051	0.0394	0.0039	0.0039	0.0383	0.0379	0.0007	0.0003	3.829e-05	0.0280	0.0099	0.0014	0.0004	0.0056	0.0394	0.0033	0.0033	0.0023	0.0043	0.0420	0.0031	0.0030	0.0373	0.0355	0.0008	0	0.0003	0	0.0218	0.0100	0	0.0005	0.0038	0.0420	1.0	0.46513	T	1.0	0.06469	T	0.018	0.17786	B	0.016	0.17743	B	0.168558	0.17444	N	0.572076	1	0.08975	N	0.55	0.14455	N	1.63	0.36330	T	0.71	0.04861	N	0.124	0.17416	-1.0610	0.11508	T	0.021	0.08917	T	10	0.0028949082	0.00046	T	.	.	.	0.051	0.14325	.	.	0.256793551483	0.25290	0.3697347310419195	0.36887	0.218503164228	0.24388	0.272802770138	0.06508	T	0.041667	0.25932	T	-0.533278	0.00367	T	-0.510225	0.21292	T	0.0170042470556583	0.00449	T	0.711829	0.32321	T	0.04403011	0.06967	0.060595833	0.11566	0.05456559	0.10486	0.053801343	0.09132	-3.864	0.21764	T	.	.	0.123	0.27039	B	.;.	.;.	1.351151	0.17589	13.25	0.71949568773004902	0.09804	0.43434	0.27097	N	AEFGBHCIJ	0.537293	0.55515	D	-0.41703934664876	0.24871	1.346068	-0.304299233110757	0.27959	1.555264	0.99999999858413	0.74766	0.730579	0.87903	0	0.563428	0.19063	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.22	5.22	0.72285	1.780000	0.38264	3.354000	0.37808	0.676000	0.76740	0.012000	0.18695	0.498000	0.25189	0.056000	0.15673	0.0:0.0:1.0:0.0	14.152	0.64924	692	0.58729	.;.	.	.	.	.	rs142330429	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	0.006303	0.005747	0.001374	0.005952	0.000000	0.000000	0.006623	0.019231	0.08333	534.83	34	chr12	14885769	.	G	A	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.541;DP=218;ExcessHet=0;FS=1.092;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.211;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	5	0	1	0
chr12	14917253	14917253	T	C	exonic	ERP27	.	nonsynonymous SNV	ERP27:NM_001300784:exon3:c.A198G:p.I66M,ERP27:NM_152321:exon5:c.A501G:p.I167M	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.0167732	0.0104	0.0012	0.0002	0.0353	0.0547	0.0032	0.0198	0.0213	0.0090749	1403	154602	rs79989395	0.0052	0.0052	0.0047	0.0058	0.0404	0.0051	0.0051	0.0388	0.0381	0.0005	0.0001	0.0003	0.0404	0.0518	0.0009	0.0007	0.0072	0.0232	0.0072	0.0073	0.0047	0.0099	0.0352	0.0069	0.0067	0.0310	0.0294	0.0006	0	0.0006	0	0.0352	0.0553	0	0.0022	0.0052	0.0284	0.4	0.10588	T	0.354	0.17804	T	0.036	0.20732	B	0.015	0.17295	B	0.134197	0.18525	N	0.598338	1	0.08975	N	-0.21	0.04010	N	1.4	0.33630	T	-0.39	0.13611	N	0.25	0.28849	-1.0899	0.05549	T	0.007	0.02558	T	10	0.0027365685	0.00043	T	.	.	.	0.034	0.08419	.	.	.	.	0.6379539404617037	0.63729	0.045523645184	0.04937	0.315013676882	0.12665	T	0.020484	0.16118	T	-0.61282	0.00122	T	-0.627982	0.10568	T	3.6474120861385e-05	0.00000	T	0.585041	0.22576	T	0.21867391	0.44381	0.059703737	0.11248	0.21867391	0.44380	0.059703737	0.11248	-7.614	0.58408	D	.	.	0.054	0.00361	B	.;.	.;.	0.377832	0.07500	4.142	0.83653740641089447	0.14845	0.00801	0.03263	N	AEFGBI	0.039172	0.05650	N	-1.29603762527472	0.03723	0.1668104	-1.28633740044139	0.04614	0.2180703	0.999887314145941	0.44867	0.615465	0.37627	0	0.653731	0.59785	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.36	-6.13	0.01937	-0.848000	0.04435	-3.928000	0.02447	-0.349000	0.05595	0.214000	0.24469	0.000000	0.08366	0.992000	0.67800	0.2276:0.2012:0.1121:0.4592	1.616	0.02540	653	0.62661	.;.	.	.	.	.	rs79989395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.08333	465.83	34	chr12	14917253	.	T	C	465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=232;ExcessHet=0;FS=6.133;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.4;SOR=1.158	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr12	18081418	18081418	G	A	exonic	RERGL	.	stopgain	RERGL:NM_001286201:exon5:c.C388T:p.R130X,RERGL:NM_024730:exon6:c.C391T:p.R131X	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	.	0.0011	0.0005	0	0.0001	0	0.0016	0.0022	0.0008	0.0011643	180	154602	rs73063263	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0004	6.708e-05	0	2.519e-05	0.0003	0.0003	0.0019	0.0008	0.0010	0.0009	0.0009	0.0010	0.0007	0.0016	0.0008	0.0007	0.0013	0.0012	0.0005	0	0	0	0	0.0002	0	0.0016	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.24	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228168	0.76548	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.521790	0.95345	34	0.98929694493280473	0.48713	0.67251	0.33365	D	AEFI	0.295076	0.40528	N	-0.00302644330928675	0.41719	2.500429	-0.280442050904326	0.28742	1.604954	2.68543704864855E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	-2.84	0.05408	0.234000	0.17708	0.805000	0.21696	-0.251000	0.07141	0.847000	0.30396	0.426000	0.24831	0.909000	0.44452	0.0729:0.0:0.3074:0.6197	10.209	0.42303	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1281.83	33	chr12	18081418	.	G	A	1281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.285;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=2.48;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1168	5	0	1	0
chr12	18503325	18503325	C	T	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_004570:exon22:c.C2938T:p.H980Y,PIK3C2G:NM_001288772:exon23:c.C3061T:p.H1021Y,PIK3C2G:NM_001288774:exon23:c.C2395T:p.H799Y	.	415	1100	7	0	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.0612139718654	0.0008	0.000798722	0.0007	0	0.0003	0	0.0005	0.0008	0.0011	0.0012	0.0007244	112	154602	rs201569993	0.0010	0.0010	0.0009	0.0010	0.0015	0.0009	0.0009	0.0013	0.0012	0.0002	0.0002	0	0	0.0009	0.0009	0.0010	0.0007	0.0015	0.0008	0.0008	0.0006	0.0009	0.0023	0.0006	0.0006	0.0013	0.0010	0.0001	0	0.0009	0.0003	0	0.0010	0	0.0011	0.0005	0.0023	0.007	0.59928	D	0.096	0.39340	T	1.0	0.90584	D	0.982	0.78396	D	0.000127	0.49741	D	0.136888	0.999846	0.49770	D	1.245	0.31408	L	-1.22	0.78752	T	-2.45	0.53577	N	0.614	0.63035	0.177	0.85515	D	0.557	0.83817	D	10	0.10832471	0.20160	T	0.061214	0.68258	D	0.628	0.85666	.	.	0.811717376858	0.80994	0.5975211642208804	0.59683	0.0886662407375	0.10026	0.498883903027	0.38672	T	0.148773	0.48748	T	-0.268837	0.11886	T	-0.157989	0.58532	T	0.146644130349159	0.16833	T	0.905209	0.66592	D	0.346549	0.56797	0.5089819	0.71624	0.346549	0.56797	0.5089819	0.71624	-9.52	0.70983	D	.	.	0.665	0.72782	P	.;.;.	.;.;.	4.617384	0.73285	26.0	0.99723670742592063	0.82266	0.97602	0.75831	D	AEFBI	0.879948	0.80624	D	0.562196806349839	0.70828	5.559192	0.467213244557907	0.65831	4.873593	0.992675562203726	0.32927	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.88	3.88	0.43959	7.478000	0.80087	7.069000	0.57433	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:1.0:0.0:0.0	14.165	0.65009	826	0.39940	Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain|PI3K-C2-gamma, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	729.83	36	chr12	18503325	.	C	T	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.95;DP=227;ExcessHet=0;FS=1.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.05;SOR=0.922	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr12	18738769	18738769	C	A	exonic	CAPZA3	.	nonsynonymous SNV	CAPZA3:NM_033328:exon1:c.C501A:p.N167K	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	0.0080	0.00519169	0.0086	0.0027	0.0024	0.0010	0.0065	0.0109	0.0011	0.0127	0.0084216	1302	154602	rs34456980	0.0084	0.0084	0.0083	0.0084	0.0115	0.0082	0.0082	0.0109	0.0107	0.0022	0.0031	0.0214	0.0011	0.0085	0.0047	0.0085	0.0083	0.0115	0.0069	0.0069	0.0065	0.0073	0.0137	0.0066	0.0064	0.0110	0.0101	0.0021	0.0066	0.0047	0.0228	0.0015	0.0057	0	0.0096	0.0085	0.0137	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.058948	0.998964	0.45775	D	2.34	0.67151	M	.	.	.	-5.84	0.88431	D	0.896	0.89577	-0.3998	0.72033	T	0.291	0.66307	T	9	0.01655814	0.00350	T	.	.	.	0.385	0.70194	0.794	0.91511	0.63174592986	0.62873	0.5303274396702685	0.52956	0.220499764335	0.24593	0.630053043365	0.57152	T	0.520901	0.83243	D	-0.45342	0.01078	T	-0.410457	0.32173	T	0.0756128621152267	0.09417	T	0.686431	0.29515	T	0.8488296	0.87249	0.69591194	0.82096	0.8488296	0.87251	0.69591194	0.82097	-4.166	0.26257	T	.	.	0.936	0.85539	P	.	.	1.867189	0.23722	16.12	0.98709154156678691	0.45025	0.67555	0.33475	D	AEFBI	0.254123	0.37350	N	-0.168282747723877	0.34459	1.96717	-0.356609488855699	0.26305	1.452112	9.42820835611779E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	-3.81	0.04013	0.109000	0.15252	-2.713000	0.03439	-0.130000	0.13190	0.981000	0.35396	0.000000	0.08366	0.960000	0.51673	0.0:0.5657:0.0:0.4343	12.416	0.54831	846	0.36215	.	.	.	.	.	rs34456980	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1378.83	33	chr12	18738769	.	C	A	1378.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=304;ExcessHet=0;FS=2.326;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.243;SOR=0.513	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1389,0,1552	5	0	1	0
chr12	20752345	20752345	G	T	exonic	SLCO1C1	.	nonsynonymous SNV	SLCO1C1:NM_001145944:exon13:c.G1705T:p.V569F,SLCO1C1:NM_001145946:exon16:c.G2059T:p.V687F	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0024	0.0255591	0.0149	0.0051	0.0707	0.0472	0	0.0004	0.01	0.0300	0.013732	2123	154602	rs111796962	0.0055	0.0055	0.0051	0.0059	0.0610	0.0054	0.0053	0.0591	0.0583	0.0062	0.0610	0.0020	0.0468	0	0.0016	0.0002	0.0075	0.0289	0.0080	0.0081	0.0073	0.0087	0.0462	0.0077	0.0075	0.0414	0.0395	0.0056	0	0.0341	0.0020	0.0462	0	0	0.0003	0.0109	0.0369	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.304973	0.03978	N	1.475830	1	0.81001	D	.	.	.	1.08	0.39401	T	-0.78	0.21644	N	0.1	0.20395	-1.0475	0.15102	T	0.013	0.05033	T	9	0.0020157099	0.00028	T	.	.	.	0.061	0.17616	.	.	.	.	0.29172093946107275	0.29085	.	.	0.340290784836	0.16482	T	.	.	.	-0.536088	0.00353	T	-0.49415	0.22956	T	0.0597407044881503	0.07128	T	0.438556	0.12074	T	.	.	.	.	.	.	.	.	-3.444	0.15766	T	.	.	0.070	0.03336	B	.;.	.;.	0.046188	0.04608	1.278	0.98935743843537804	0.48845	0.71390	0.34992	D	AEFI	0.059824	0.11326	N	-0.523306093580169	0.21328	1.131061	-0.38618225948697	0.25408	1.397109	6.95434252018863E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	3.57	0.40014	0.552000	0.23083	0.686000	0.20722	-0.106000	0.15538	0.954000	0.33273	0.913000	0.28170	0.915000	0.45038	0.1662:0.0:0.8338:0.0	9.344	0.37262	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	746.83	34	chr12	20752345	.	G	T	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.641;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.042;SOR=0.76	GT:AD:DP:GQ:PL	0/1:43,27:70:99:757,0,1313	5	0	1	0
chr12	21765733	21765733	G	A	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.C1265T:p.S422L	.	0	1515	7	0	0	7	0.00230491	.	.	.	167406	not_specified|KCNJ8-related_disorder|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided|Brugada_syndrome	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.187	0.0194152558076	0.0015	0.000199681	0.0016	9.615e-05	0.0010	0.0001	0	0.0025	0.0033	0.0010	0.0014618	226	154602	rs72554071	0.0011	0.0011	0.0010	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0002	0.0007	0.0310	0	7.488e-05	0.0045	0.0004	0.0028	0.0009	0.0012	0.0012	0.0013	0.0011	0.0006	0.0011	0.0010	0.0005	0.0004	0.0001	0.0011	0.0005	0.0328	0	9.432e-05	0.0034	0.0006	0.0028	0.0006	0.21	0.19639	T	0.247	0.23914	T	0.013	0.16609	B	0.004	0.10090	B	0.243235	0.15666	N	0.650929	1	0.08975	N	0.345	0.11182	N	-1.12	0.77593	T	-0.62	0.18248	N	0.104	0.08786	-0.9524	0.40555	T	0.199	0.55499	T	10	0.0040097833	0.00077	T	0.019415	0.41777	T	0.187	0.46274	.	.	0.425148423609	0.42132	0.6132004647008038	0.61252	0.932174325602	0.71871	0.362425088882	0.19739	T	0.264	0.63551	T	-0.364457	0.03884	T	-0.356891	0.38413	T	0.0120851045618877	0.00192	T	0.684232	0.29249	T	0.068914935	0.15055	0.08378752	0.19227	0.07222775	0.16049	0.07127815	0.15244	-3.866	0.21794	T	.	.	.	.	.	.	.	2.304429	0.29492	18.14	0.93033629694933062	0.22635	0.44658	0.27366	N	AEFBI	0.602448	0.59431	D	-0.670389501032449	0.16868	0.8632347	-0.556396499684281	0.20637	1.112709	0.00978492626089505	0.11913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	4.45	0.53365	2.485000	0.44909	5.319000	0.48286	0.654000	0.53741	0.077000	0.22263	0.978000	0.30204	0.917000	0.45243	0.1593:0.0:0.8407:0.0	9.499	0.38171	746	0.52331	.	.	.	.	.	.	Likely benign	0	0	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	0.003027	0.005102	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	3798.83	33	chr12	21765733	.	G	A	3798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=500;ExcessHet=0;FS=7.25;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.237;SOR=0.42	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr12	25035741	25035741	A	G	exonic	LOC645177	.	nonsynonymous SNV	LOC645177:NM_001321724:exon15:c.A1805G:p.E602G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988196150	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11016247	0.20578	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	1.045967	0.14271	10.85	0.60694291284428947	0.06525	0.02623	0.07209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0146702453269927	0.12623	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554192	0.12871	4.41	3.21	0.35933	0.564000	0.23265	0.355000	0.17517	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.7981:0.0:0.0:0.2019	7.038	0.24184	882	0.29131	.	.	.	.	.	.	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	1118.83	34	chr12	25035741	.	A	G	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=247;ExcessHet=0;FS=4.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.777;SOR=1.029	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	5	0	1	0
chr12	27297731	27297731	C	T	exonic	STK38L	.	nonsynonymous SNV	STK38L:NM_015000:exon2:c.C11T:p.T4M	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0200581951477	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	3.84e-05	1	26028	rs769405820	6.16e-06	7.524e-06	5.448e-06	6.879e-06	5.978e-05	2.9e-06	2.1e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	5.398e-06	0	1.161e-05	2.63e-05	2.628e-05	3.856e-05	1.346e-05	6.549e-05	8.15e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	6.549e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.004	0.79402	D	0.65	0.40644	P	0.075	0.28327	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.075	0.27130	L	0.91	0.44856	T	-1.16	0.36787	N	0.504	0.53620	-1.0194	0.23910	T	0.070	0.28642	T	10	0.24432775	0.41662	T	0.020058	0.42574	T	0.206	0.49396	0.141	0.04462	0.276254252017	0.27237	0.6803634936155969	0.67975	1.01917520793	0.75045	0.656677603722	0.60934	T	0.028812	0.20786	T	0.0132526	0.53467	T	-0.203254	0.54337	T	0.703793346881866	0.40900	D	0.812919	0.47089	T	0.27404058	0.50471	0.22644989	0.47622	0.27404058	0.50471	0.22644989	0.47621	-4.271	0.27768	T	.	.	0.145	0.40570	B	.;.;.;.;.;.	.;.;.;.;.;.	4.131709	0.61838	24.4	0.99907708549180407	0.97801	0.99652	0.98359	D	AEFDGBIJ	0.883140	0.81181	D	0.257254776824368	0.53998	3.566641	0.401536695101505	0.61662	4.369331	0.99999999999969	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.0	0.00009	3	.	.	5.18	5.18	0.71140	7.517000	0.80687	4.907000	0.45915	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.083	0.93175	788	0.46569	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	562.83	38	chr12	27297731	.	C	T	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=235;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.543;SOR=1.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	5	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R,CAPRIN2:NM_001385543:exon7:c.C761G:p.P254R,CAPRIN2:NM_001319842:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385528:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385531:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385537:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385541:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385544:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385546:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385547:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385548:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385550:exon8:c.C830G:p.P277R,CAPRIN2:NM_001002259:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001206856:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319843:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385498:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385499:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385500:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385516:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385518:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385529:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385532:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385533:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385534:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385539:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385540:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385542:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385545:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385549:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385551:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385552:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385553:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385554:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385557:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385559:exon9:c.C830G:p.P277R,CAPRIN2:NM_023925:exon9:c.C1829G:p.P610R,CAPRIN2:NM_032156:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319844:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319845:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319846:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385501:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385502:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385503:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385504:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385505:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385506:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385507:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385508:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385509:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385510:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385511:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385512:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385513:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385514:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385515:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385519:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385520:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385521:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385522:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385523:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385524:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385525:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385526:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385527:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385535:exon10:c.C1586G:p.P529R	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	355.83	35	chr12	30726042	.	G	C	355.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.159;DP=226;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=0.175;SOR=0.927	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr12	30731432	30731432	T	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001002259:exon6:c.A971G:p.K324R,CAPRIN2:NM_001206856:exon6:c.A971G:p.K324R,CAPRIN2:NM_001319843:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385498:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385499:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385500:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385516:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385518:exon6:c.A971G:p.K324R,CAPRIN2:NM_023925:exon6:c.A971G:p.K324R,CAPRIN2:NM_032156:exon6:c.A971G:p.K324R,CAPRIN2:NM_001319844:exon7:c.A728G:p.K243R,CAPRIN2:NM_001319845:exon7:c.A728G:p.K243R,CAPRIN2:NM_001319846:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385501:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385502:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385503:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385504:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385505:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385506:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385507:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385508:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385509:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385510:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385511:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385512:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385513:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385514:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385515:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385519:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385520:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385521:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385522:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385523:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385524:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385525:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385526:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385527:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385535:exon7:c.A728G:p.K243R	.	434	1079	8	1	0	10	0.00461255	.	.	.	2806823	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0906357433981	.	0.00139776	0.0011	0	0	0	0	7.507e-05	0.0011	0.0076	0.000912	141	154602	rs574786135	0.0004	0.0004	0.0003	0.0006	0.0063	0.0004	0.0004	0.0058	0.0056	5.982e-05	0	0	2.525e-05	0	0.0017	5.219e-05	0.0006	0.0063	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0.0034	8.827e-05	0	0.0050	0.496	0.22138	T	0.665	0.18675	T	0.178	0.36706	B	0.086	0.32635	B	0.559262	0.11353	N	0.817324	1	0.81001	D	2.08	0.57402	M	2.46	0.95387	T	-0.81	0.24460	N	0.141	0.14054	0.088	0.83963	D	0.694	0.89459	D	10	0.0057718754	0.00129	T	0.090636	0.75556	D	0.056	0.15993	0.324	0.30549	0.538882897946	0.53539	0.13450428255761052	0.13374	0.0585339149896	0.06489	0.402512848377	0.25419	T	0.018876	0.15137	T	-0.258031	0.13132	T	-0.139834	0.60134	T	0.0268227118669276	0.01519	T	0.762524	0.38803	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.089	0.13174	B	.;.;.;.;.	.;.;.;.;.	2.877913	0.38074	20.6	0.96215994161808793	0.29069	0.76694	0.37635	D	AEFBI	0.206184	0.33247	N	-0.349730469643535	0.27281	1.49557	-0.212798439563555	0.31074	1.755343	0.974576081877004	0.29555	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.1	3.96	0.45097	1.999000	0.40425	4.085000	0.41766	-0.120000	0.14102	0.997000	0.40164	1.000000	0.68203	0.989000	0.64315	0.0:0.0873:0.2108:0.7019	6.335	0.20499	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.08333	1029.83	34	chr12	30731432	.	T	C	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.105;SOR=0.764	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1040,0,1245	5	0	1	0
chr12	31085099	31085099	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon5:c.G611A:p.S204N,DDX11:NM_001257145:exon5:c.G533A:p.S178N,DDX11:NM_004399:exon5:c.G611A:p.S204N,DDX11:NM_030653:exon5:c.G611A:p.S204N,DDX11:NM_152438:exon5:c.G611A:p.S204N	Warsaw breakage syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	.	0.00259585	0.0037	0	0	0	0	5.58e-05	0	0.0153	0.001326	205	154602	rs567905186	0.0008	0.0008	0.0004	0.0012	0.0135	0.0008	0.0008	0.0128	0.0126	0	0	0	5.253e-05	0	0.0017	1.829e-05	0.0008	0.0135	0.0004	0.0004	0.0003	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	2.404e-05	0	6.531e-05	0	0	0	0.0034	0	0	0.0114	0.024	0.68238	D	0.01	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	.	.	.	-1.55	0.81727	D	-2.26	0.52938	N	0.571	0.62273	0.485	0.90331	D	0.703	0.89790	D	10	0.009506047	0.00214	T	.	.	.	0.276	0.59253	.	.	0.805397873901	0.80357	0.30417057431245426	0.30330	.	.	0.645296812057	0.59316	T	0.027074	0.50082	T	-0.274765	0.11231	T	-0.155133	0.58787	T	0.189950296024925	0.19842	T	0.738826	0.59013	T	0.3636877	0.58115	0.24674577	0.50191	0.42434508	0.62380	0.24949948	0.50522	-9.661	0.75963	D	.	.	0.577	0.70820	P	.;.;.;.;.;.	.;.;.;.;.;.	4.321759	0.66145	24.9	0.98188412251055779	0.39010	0.99271	0.93751	D	AEFBI	0.902854	0.85124	D	0.428569156356455	0.62999	4.525433	0.241233955731785	0.52152	3.392011	0.992179984668099	0.32745	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.7	3.7	0.41607	8.200000	0.89695	9.495000	0.80900	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	13.055	0.58387	976	0.04745	.;.;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001710	0.000000	0.000000	0.008547	0.000000	0.000000	0.000000	0.004000	0.08333	570.83	39	chr12	31085099	.	G	A	570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.725;DP=203;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.083;MQ=51.49;MQRankSum=1.56;QD=14.64;ReadPosRankSum=0.635;SOR=0.858	GT:AD:DP:GQ:PL	0/0:43,0:43:89:0,89,1344	5	0	1	0
chr12	31087937	31087937	G	C	splicing	DDX11	NM_152438:exon6:c.639-1G>C;NM_030653:exon6:c.639-1G>C;NM_001257144:exon6:c.639-1G>C;NM_001257145:exon6:c.561-1G>C;NM_004399:exon6:c.639-1G>C	.	.	Warsaw breakage syndrome, Autosomal recessive	2	1519	1	0	0	1	0.000329056	0.9998	0.788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0001	0	0	0	1.635e-05	0	7.121e-05	3.84e-05	1	26028	rs757533407	3.638e-05	3.694e-05	3.412e-05	3.865e-05	0.0001	2.837e-05	2.573e-05	3.36e-05	2.391e-05	2.995e-05	0	0	0.0001	0	0	3.603e-05	3.318e-05	7.049e-05	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0002	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825704	0.28825	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461053	0.92972	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.256819	0.94891	34	0.94510436291454913	0.24992	0.89439	0.49904	D	AEFBI	.	.	.	0.528312152357673	0.68770	5.263276	0.187832813805461	0.49178	3.124295	3.55579399123242E-4	0.06668	0.256867	0.04430	0	0.271743	0.05004	0	0.17184	0.04098	0	0.117559	0.03655	0	0.093092	0.20959	2.79	1.89	0.24700	4.013000	0.56850	9.021000	0.78571	0.558000	0.28311	0.980000	0.35271	1.000000	0.68203	0.161000	0.20682	0.1558:0.0:0.8442:0.0	5.591	0.16581	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1021.83	55	chr12	31087937	.	G	C	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.564;DP=349;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=51.77;MQRankSum=1.72;QD=10.12;ReadPosRankSum=-0.085;SOR=0.919	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr12	31103905	31103905	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon27:c.G2785A:p.V929M,DDX11:NM_152438:exon27:c.G2785A:p.V929M	Warsaw breakage syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	1196097	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.163	0.00748483736346	.	0.000599042	0.0007	9.835e-05	8.75e-05	0	0	0.0004	0	0.0037	0.0006015	93	154602	rs563857266	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0036	0.0035	5.975e-05	0.0002	0.0018	2.519e-05	0	0.0019	0.0002	0.0005	0.0040	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	9.622e-05	0	0.0001	0.0014	0	0	0.0034	0.0002	0.0009	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.78	0.73631	T	-0.01	0.07155	N	0.036	0.01068	-1.0410	0.17011	T	0.140	0.45997	T	9	0.0043744743	0.00089	T	0.007485	0.19846	T	0.163	0.42028	.	.	0.146414634003	0.14194	0.08912661703273703	0.08845	.	.	0.280788213015	0.07602	T	0.041273	0.25804	T	-0.532648	0.00371	T	-0.53817	0.18476	T	0.011753953541351	0.00181	T	0.346065	0.07604	T	0.12034441	0.28321	0.1082753	0.26080	0.15108362	0.34363	0.08874401	0.20711	-5.077	0.37664	T	.	.	0.191	0.41047	B	.	.	-0.129462	0.03469	0.645	0.68285945622942401	0.08611	0.01298	0.04511	N	ALL	0.032709	0.03744	N	-1.95776623687186	0.00260	0.01116694	-2.05078849641703	0.00238	0.01049825	0.999999033922941	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	1.38	-2.76	0.05547	-2.220000	0.01300	-5.410000	0.01729	-2.628000	0.00228	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3866:0.1846:0.2024:0.2264	0.221	0.00157	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	0.001138	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1512.83	79	chr12	31103905	.	G	A	1512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=378;ExcessHet=0;FS=2.558;MLEAC=1;MLEAF=0.083;MQ=57.53;MQRankSum=-0.495;QD=13.88;ReadPosRankSum=-0.773;SOR=0.441	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1112	5	0	1	0
chr12	31398219	31398219	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_144973:exon17:c.C3212T:p.T1071M,DENND5B:NM_001308339:exon19:c.C3317T:p.T1106M	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00312527890632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989124346	1.101e-05	1.436e-05	9.571e-06	1.247e-05	4.755e-05	6.52e-06	5.28e-06	1.61e-05	9.48e-06	2.999e-05	0	0	0	0	0	9.927e-06	0	4.755e-05	1.977e-05	1.971e-05	2.574e-05	1.35e-05	4.844e-05	5.26e-06	2.46e-06	8.03e-06	3e-06	4.844e-05	0	0	0	0	0	0	1.471e-05	0	0	0.254	0.17468	T	0.161	0.31326	T	0.004	0.14184	B	0.004	0.14941	B	0.194766	0.03276	N	1.790640	1	0.08975	N	0.55	0.14455	N	3.73	0.03982	T	-0.97	0.25770	N	0.102	0.08506	-0.9441	0.41960	T	0.009	0.03011	T	10	0.040650755	0.02652	T	0.003125	0.06786	T	0.010	0.01040	0.272	0.22210	0.161926535498	0.15789	0.19914258509803862	0.19831	0.555580429319	0.52254	0.253512769938	0.04147	T	0.003789	0.05891	T	-0.330717	0.06058	T	-0.712828	0.05150	T	0.020037278911541	0.00704	T	0.782022	0.41734	T	0.014500451	0.00096	0.02099464	0.00167	0.014500451	0.00095	0.02099464	0.00167	-3.207	0.12567	T	.	.	0.055	0.00890	B	.;.	.;.	1.076322	0.14590	11.15	0.73550239353847002	0.10369	0.06075	0.12048	N	AEFBI	0.092129	0.18654	N	-1.24885924815114	0.04315	0.1944942	-1.24618857449906	0.05187	0.2465778	9.46925864206247E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.25	-0.114	0.12903	0.936000	0.28536	0.919000	0.22689	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.404000	0.26872	0.4028:0.1288:0.4684:0.0	5.747	0.17396	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	472.83	31	chr12	31398219	.	G	A	472.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=178;ExcessHet=0;FS=3.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.611;SOR=0.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,929	5	0	1	0
chr12	31980974	31980974	C	A	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.C19A:p.P7T	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0002	0.00259585	0.0026	0	0.0008	0.0001	0	0.0003	0.0012	0.0212	0.0021022	325	154602	rs150927474	0.0012	0.0012	0.0006	0.0017	0.0167	0.0011	0.0011	0.0160	0.0157	6.068e-05	0.0002	3.917e-05	0	3.764e-05	0.0065	0.0002	0.0013	0.0167	0.0007	0.0007	0.0004	0.0009	0.0139	0.0006	0.0005	0.0112	0.0103	0	0.0011	0.0003	0	0	0	0.0034	0.0004	0	0.0139	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.785	0.57495	P	0.059557	0.22315	N	0.381540	1	0.08975	N	1.79	0.46772	L	2.86	0.22270	T	-8.0	0.96495	D	0.274	0.31027	-1.0895	0.05616	T	0.067	0.27572	T	10	0.0033395588	0.00058	T	.	.	.	0.078	0.22779	.	.	0.215109475489	0.21095	0.38457686279474934	0.38372	0.0490504788645	0.05365	0.345513343811	0.17260	T	0.08574	0.37569	T	-0.480207	0.00737	T	-0.449587	0.27742	T	0.153821343422295	0.17404	T	0.734027	0.37241	T	0.30231315	0.53112	0.22810557	0.47841	0.30231315	0.53112	0.22810557	0.47840	-3.89	0.22152	T	.	.	0.097	0.36811	B	.;.;.	.;.;.	3.370509	0.46573	22.3	0.99347992340563462	0.60452	0.85999	0.45201	D	AEFBI	0.063058	0.12162	N	-0.00214455778623099	0.41759	2.503551	-0.101655823674498	0.35323	2.042288	0.997642465401557	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.3	0.50540	1.825000	0.38720	2.598000	0.33506	0.599000	0.40250	0.957000	0.33433	0.975000	0.29991	0.851000	0.40252	0.0:0.9179:0.0:0.0821	11.982	0.52413	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.015152	0.08333	1125.83	33	chr12	31980974	.	C	A	1125.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.441;DP=279;ExcessHet=0;FS=7.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-1.272;SOR=0.267	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1237	5	0	1	0
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.018939	0.08333	984.83	64	chr12	31984133	.	A	G	984.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=394;ExcessHet=0;FS=2.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.541;SOR=1.037	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	0	1	0
chr12	31984932	31984932	A	T	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3977T:p.H1326L	.	431	1090	1	0	0	1	0.000458505	.	.	.	2681775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00263896373661	7.7e-05	.	4.956e-05	0	0	0	0	7.515e-05	0	6.064e-05	3.88e-05	6	154602	rs368576980	1.643e-05	1.642e-05	1.77e-05	1.514e-05	0.0005	1.111e-05	9.34e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	1.709e-05	1.656e-05	1.164e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	1.0	0.00964	T	0.704	0.05642	T	0.001	0.07471	B	0.002	0.06944	B	0.502957	0.05103	N	1.288820	1	0.08975	N	0.625	0.15840	N	2.8	0.11082	T	-2.62	0.56301	D	0.056	0.02759	-0.9558	0.39952	T	0.011	0.04088	T	9	0.03362876	0.01544	T	0.002639	0.05377	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.10932828391730737	0.10861	0.00861022644597	0.00783	0.231563150883	0.02086	T	0.003442	0.02849	T	-0.480095	0.00738	T	-0.741496	0.03828	T	0.0364698539137878	0.03063	T	0.260974	0.04194	T	0.07494326	0.16853	0.05638653	0.10067	0.07494326	0.16853	0.05638653	0.10066	-2.48	0.05646	T	.	.	0.095	0.14888	B	.	.	-0.365220	0.02346	0.254	0.19290560363183287	0.00644	0.03253	0.08281	N	AEFBCI	0.027429	0.02239	N	-1.37473362959474	0.02876	0.127656	-1.39154854106964	0.03341	0.1556655	0.9317095776166	0.27059	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.21	-3.75	0.04087	0.179000	0.16653	-0.331000	0.09890	-0.041000	0.17446	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3288:0.2737:0.0853:0.3122	1.314	0.01976	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1700.83	68	chr12	31984932	.	A	T	1700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=371;ExcessHet=0;FS=7.7;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.181;SOR=0.802	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	YES	54188	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided|PKP2-related_disorder	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	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	0.005482	0.000000	0.000000	0.020548	0.000000	0.008621	0.000000	0.011811	0.08333	585.83	34	chr12	32850772	.	T	C	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-0.264;SOR=0.712	GT:AD:DP:GQ:PL	0/1:55,29:84:99:596,0,1456	5	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:23,15:38:43:43,0,297	1	0	5	0
chr12	40436636	40436636	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.0341914588969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	604.83	34	chr12	40436636	.	G	T	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.419;DP=251;ExcessHet=0;FS=0.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=0.032;SOR=0.566	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1323	5	0	1	0
chr12	40479617	40479617	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	565	948	9	0	0	9	0.00472441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0638185984586	.	0.000798722	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs193276049	9.362e-05	6.156e-05	9.367e-05	9.357e-05	0.0018	7.619e-05	7.046e-05	0.0013	0.0011	0	0	0	0	0	0.0006	5.381e-05	0.0002	0.0018	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	7.225e-05	0	0	0	0	0	0.0034	0.0001	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	5602.83	353	chr12	40479617	.	C	A	5602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.04;DP=1884;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.91;SOR=0.689	GT:AD:DP:GQ:PL	0/0:277,0:277:99:0,120,1800	5	0	1	0
chr12	40480581	40480581	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	556	962	4	0	0	4	0.00207469	.	.	.	2806875	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0	.	.	.	.	.	.	.	0.0067619	176	26028	rs149170137	0.0088	0.0051	0.0090	0.0087	0.0091	0.0087	0.0086	0.0089	0.0088	0.0011	0.0041	0.0256	0	0.0109	0.0043	0.0091	0.0082	0.0039	0.0057	0.0057	0.0064	0.0050	0.0086	0.0054	0.0053	0.0081	0.0078	0.0016	0.0022	0.0047	0.0288	0	0.0018	0.0034	0.0086	0.0066	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	4079.83	250	chr12	40480581	.	T	C	4079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.56;DP=1622;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.457;SOR=0.684	GT:AD:DP:GQ:PL	0/0:293,0:293:99:0,120,1800	5	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	3610.71	725	chr12	40482890	.	T	*	3610.71	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.907;DP=5463;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.75;MQ=58.02;MQRankSum=-21.32;QD=1.08;ReadPosRankSum=2.88;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:9,763:772:99:.:.:32510,2083,0:.	1	2	1	2
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	8243.04	572	chr12	40483220	.	T	A	8243.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=3891;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.819;SOR=0.664	GT:AD:DP:GQ:PL	0/0:611,0:611:99:0,120,1800	5	0	1	0
chr12	40483937	40483937	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	549	967	5	0	1	6	0.00257865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113645766486	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1322352843	1.513e-05	0.0001	1.022e-05	2.085e-05	0.0001	8.12e-06	5.93e-06	2.447e-05	9.77e-06	0	0	0	0	0	0	1.354e-05	0	0.0001	0.0001	0.0020	0.0001	0.0001	0.0007	7.809e-05	6.269e-05	0.0001	6.151e-05	9.677e-05	0	0	0.0004	0	0	0	0.0002	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1470.68	566	chr12	40483937	.	A	T	1470.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.402;DP=3604;ExcessHet=0;FS=9.497;MLEAC=1;MLEAF=0.125;MQ=59.13;MQRankSum=-17.26;QD=2.18;ReadPosRankSum=-9.884;SOR=1.553	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:735,0:735:0:.:.:0,0,16572:.	3	0	1	2
chr12	40483949	40483949	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	555	963	2	1	1	5	0.00207254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214288909938	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1448414589	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	7.699e-05	0	0	0	0	0	0.0003	0.0002	0.0002	0.0004	0.0028	0.0005	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0004	0.0005	0.0009	0	0.0076	0.0006	0.0008	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	2006.68	566	chr12	40483949	.	T	C	2006.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.9;DP=3632;ExcessHet=0;FS=6.993;MLEAC=1;MLEAF=0.125;MQ=59.09;MQRankSum=-15.78;QD=2.84;ReadPosRankSum=-7.591;SOR=1.393	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:729,0:729:0:.:.:0,0,15770:.	3	0	1	2
chr12	40483953	40483953	-	CTG	exonic	MUC19	.	unknown	UNKNOWN	.	551	967	3	0	1	4	0.00154879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217565650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	6.448e-05	0.0002	0.0004	9.17e-05	7.722e-05	9.084e-05	7.039e-05	0.0001	0	6.558e-05	0	0.0002	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2364.79	566	chr12	40483953	.	A	ACTG	2364.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.69;DP=3631;ExcessHet=0;FS=6.424;MLEAC=1;MLEAF=0.083;MQ=59.09;MQRankSum=-15.01;QD=3.35;ReadPosRankSum=-7.214;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:723,0:723:99:.:.:0,120,1800:.	5	0	1	0
chr12	40483955	40483955	-	AGCTGAAGTGACAGGGACAACTAGACT	exonic	MUC19	.	unknown	UNKNOWN	.	558	957	5	0	2	7	0.00260552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0017	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0.0003	0	0	0.0003	0.0007	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3167.64	566	chr12	40483955	.	C	CAGCTGAAGTGACAGGGACAACTAGACT	3167.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.97;DP=3648;ExcessHet=0;FS=7.547;MLEAC=1;MLEAF=0.125;MQ=59.07;MQRankSum=-13.99;QD=4.43;ReadPosRankSum=-7.699;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:720,0:720:0:.:.:0,0,15423:.	3	0	1	2
chr12	40484339	40484339	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122365396896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.846e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5797.69	566	chr12	40484339	.	C	G	5797.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=5086;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=55.25;MQRankSum=-5.483;QD=4.27;ReadPosRankSum=-0.599;SOR=0.653	GT:AD:DP:GQ:PL	./.:1425,0:1425:0:0,0,18845	4	0	1	1
chr12	40484730	40484730	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549013865	3.843e-05	2.738e-05	4.911e-05	2.6e-05	0.0016	2.781e-05	2.379e-05	0.0012	0.0010	0	0	0	0	0	0.0006	2.627e-06	7.329e-05	0.0016	5.26e-05	5.252e-05	2.573e-05	8.067e-05	0.0017	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7249.83	660	chr12	40484730	.	T	C	7249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.569;DP=5152;ExcessHet=0;FS=2.432;MLEAC=1;MLEAF=0.083;MQ=59.71;MQRankSum=-0.283;QD=11.44;ReadPosRankSum=3.32;SOR=0.873	GT:AD:DP:GQ:PL	0/0:997,0:997:99:0,120,1800	5	0	1	0
chr12	40485277	40485277	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	977	2	0	0	2	0.00102249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs573658247	0.0003	0.0002	0.0003	0.0003	0.0121	0.0003	0.0002	0.0107	0.0102	0.0121	0	0	0.0003	0	0	4.072e-05	0.0004	0	0.0032	0.0032	0.0033	0.0030	0.0111	0.0029	0.0028	0.0102	0.0099	0.0111	0	0.0008	0	0	0	0	5.879e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4807.83	751	chr12	40485277	.	G	A	4807.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.341;DP=4191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.27;MQRankSum=5.74;QD=8.43;ReadPosRankSum=-1.39;SOR=0.728	GT:AD:DP:GQ:PL	0/0:796,0:796:99:0,120,1800	5	0	1	0
chr12	40485585	40485854	AGACAACTGGACCATCAGCTGGGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCTATCAGCTGTGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.529e-05	1.576e-05	3.133e-05	1.825e-05	6.351e-05	1.625e-05	1.379e-05	1.6e-05	1.289e-05	6.351e-05	0	0	0	0	0	2.502e-05	0	6.095e-05	6.582e-06	6.57e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7332.79	586	chr12	40485584	.	GAGACAACTGGACCATCAGCTGGGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCTATCAGCTGTGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAA	G	7332.79	.	AC=1;AF=0.083;AN=12;DP=3601;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=59.09;MQRankSum=-0.286;QD=8.93;SOR=0.866	GT:AD:DP:GQ:PL	0/0:499,0:499:99:0,120,1800	5	0	1	0
chr12	40485585	40485585	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	63403.5	750	chr12	40485585	.	A	*	63403.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.623;DP=3839;ExcessHet=0.7136;FS=1.142;MLEAC=1;MLEAF=0.1;MQ=59.15;MQRankSum=-0.105;QD=19.13;ReadPosRankSum=-0.154;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:508:99:1|1:40485585_A_G:20560,20560,20560:40485585	4	0	1	1
chr12	40485607	40485696	GGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	.	0.0003	0.0002	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0006	0	0	0	0.0003	0.0004	0.0004	0.0006	0.0011	0.0007	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0	0.0009	0.0009	0.0002	0.0006	0	0.0008	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7823.01	679	chr12	40485606	.	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	G	7823.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=3456;ExcessHet=0.4139;FS=2.485;MLEAC=1;MLEAF=0.083;MQ=54.38;MQRankSum=7.43;QD=7.15;ReadPosRankSum=7.85;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,231:273:99:0|1:40485585_A_G:7833,0,343:40485585	5	0	1	0
chr12	40485606	40485696	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7823.01	679	chr12	40485606	.	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	*	7823.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=3456;ExcessHet=0.4139;FS=2.485;MLEAC=1;MLEAF=0.083;MQ=54.38;MQRankSum=7.43;QD=7.15;ReadPosRankSum=7.85;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:42,0:273:99:0|1:40485585_A_G:7833,7957,8992:40485585	5	0	1	0
chr12	40485608	40485637	GTGACAGGGACAGGTAGACTATCAGCTGAA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.741e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485607	.	GGTGACAGGGACAGGTAGACTATCAGCTGAA	G	343.0	.	AC=1;AF=0.083;AN=12;DP=3445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.23;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,42:273:99:1|0:40485585_A_G:16334,8838,7833:40485585	5	0	1	0
chr12	40485607	40485637	GGTGACAGGGACAGGTAGACTATCAGCTGAA	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485607	.	GGTGACAGGGACAGGTAGACTATCAGCTGAA	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3445;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.23;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,231:273:99:1|0:40485585_A_G:16334,1556,343:40485585	4	0	2	0
chr12	40485655	40485657	CCC	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455242824	0	1.402e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.071e-05	6.699e-05	2.699e-05	1.413e-05	0.0002	5.51e-06	2.53e-06	.	.	2.538e-05	0	0	0	0.0002	0	0	1.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485654	.	GCCC	G	343.0	.	AC=1;AF=0.083;AN=12;DP=3385;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.98;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,42:273:99:1|0:40485585_A_G:15909,8799,7833:40485585	5	0	1	0
chr12	40485654	40485657	GCCC	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485654	.	GCCC	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3385;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.98;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,231:273:99:1|0:40485585_A_G:15909,1516,343:40485585	4	0	2	0
chr12	40485661	40485747	AGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485660	.	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	C	343.0	.	AC=1;AF=0.083;AN=12;DP=3365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.94;MQRankSum=1.84;QD=0.31;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,42:274:99:1|0:40485585_A_G:15894,8760,7833:40485585	5	0	1	0
chr12	40485660	40485747	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485660	.	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3365;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.94;MQRankSum=1.84;QD=0.31;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,231:274:99:1|0:40485585_A_G:15894,1477,343:40485585	4	0	2	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6371.03	740	chr12	40486404	.	T	TATCA	6371.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.67;DP=4248;ExcessHet=0.4139;FS=59.339;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-24.1;QD=4.47;ReadPosRankSum=-6.812;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,154:642:99:0|1:40486404_T_TATCA:4654,0,19548:40486404	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6045.18	749	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	6045.18	.	AC=2;AF=0.25;AN=8;BaseQRankSum=8.4;DP=4276;ExcessHet=0.4139;FS=44.818;MLEAC=2;MLEAF=0.25;MQ=57.15;MQRankSum=-21.31;QD=4.56;ReadPosRankSum=-6.734;SOR=5.464	GT:AD:DP:GQ:PL	0/1:488,100:590:99:4968,0,19538	2	0	2	2
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	576.83	691	chr12	40487346	.	A	T	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.155;DP=4568;ExcessHet=0;FS=15.304;MLEAC=1;MLEAF=0.083;MQ=55.84;MQRankSum=-13.16;QD=0.73;ReadPosRankSum=-0.893;SOR=6.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:721,71:792:99:0|1:40487346_A_T:587,0,30012:40487346	5	0	1	0
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	485.04	691	chr12	40487347	.	G	C	485.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=4571;ExcessHet=0;FS=15.304;MLEAC=1;MLEAF=0.083;MQ=55.83;MQRankSum=-13.38;QD=0.65;ReadPosRankSum=-0.995;SOR=6.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:723,23:747:99:0|1:40487346_A_T:581,0,30115:40487346	5	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	559.83	691	chr12	40487354	.	G	A	559.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=4581;ExcessHet=0;FS=15.25;MLEAC=1;MLEAF=0.083;MQ=55.77;MQRankSum=-13.28;QD=0.7;ReadPosRankSum=0.663;SOR=6.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:727,71:798:99:0|1:40487346_A_T:570,0,30297:40487346	5	0	1	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	363.79	691	chr12	40487422	.	A	ACC	363.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.744;DP=4849;ExcessHet=0;FS=9.626;MLEAC=1;MLEAF=0.083;MQ=58;MQRankSum=-23.23;QD=0.52;ReadPosRankSum=1.93;SOR=1.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:935,0:935:99:.:.:0,120,1800:.	5	0	1	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	14265.8	784	chr12	40487424	.	T	TTGG	14265.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=1;MLEAF=0.083;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:778,0:781:99:.:.:5465,0,32102:.	5	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:778,0:781:99:.:.:5465,1985,34190:.	1	0	5	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	417.79	816	chr12	40487442	.	G	GGCT	417.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.854;DP=4998;ExcessHet=0;FS=1.006;MLEAC=1;MLEAF=0.083;MQ=57.86;MQRankSum=-23.32;QD=0.6;ReadPosRankSum=-1.697;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:920,0:920:99:.:.:0,120,1800:.	5	0	1	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:784,0:835:99:.:.:4666,2164,34043:.	1	0	5	0
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	171.83	435	chr12	40488211	.	TGGGGTG	T	171.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.089;DP=4166;ExcessHet=0;FS=12.751;MLEAC=1;MLEAF=0.1;MQ=58.59;MQRankSum=-24.85;QD=0.25;ReadPosRankSum=-1.166;SOR=2.546	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:934,0:934:0:.:.:0,0,15658:.	4	0	1	1
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1055.7	313	chr12	40488250	.	A	T	1055.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.925;DP=3776;ExcessHet=0;FS=10.227;MLEAC=1;MLEAF=0.1;MQ=58.95;MQRankSum=-14.25;QD=1.75;ReadPosRankSum=-6.17;SOR=1.757	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:934,0:934:0:.:.:0,0,15658:.	4	0	1	1
chr12	40488255	40488255	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	602	913	7	0	0	7	0.00381888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1488209478	9.531e-06	0.0003	7.591e-06	1.179e-05	0.0063	3.96e-06	2.55e-06	0.0025	0.0016	0	0.0063	0	0.0003	0	0	1.488e-06	0	0	0.0031	0.0084	0.0026	0.0037	0.0275	0.0029	0.0028	0.0248	0.0238	0.0007	0	0.0275	0	0.0031	0.0031	0	0.0002	0.0034	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	140.7	313	chr12	40488255	.	G	T	140.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.121;DP=3751;ExcessHet=0;FS=31.822;MLEAC=1;MLEAF=0.1;MQ=58.99;MQRankSum=-12.36;QD=0.24;ReadPosRankSum=-6.361;SOR=4.998	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:934,0:934:0:.:.:0,0,15658:.	4	0	1	1
chr12	40488804	40488804	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	551	952	6	0	13	19	0.00314136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs373977888	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0006	0.0001	0.0001	0.0002	8.081e-05	6.412e-05	8.089e-05	5.714e-05	7.051e-05	0	0.0002	0.0006	0	0.0002	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1945.68	639	chr12	40488804	.	T	C	1945.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.3;DP=5122;ExcessHet=0;FS=5.223;MLEAC=1;MLEAF=0.125;MQ=57.38;MQRankSum=-18.35;QD=1.98;ReadPosRankSum=-11.94;SOR=1.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:874,109:983:99:0|1:40488804_T_C:1954,0,33648:40488804	3	0	1	2
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5873.7	621	chr12	40490978	.	G	A	5873.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.337;DP=3351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=59.64;MQRankSum=-2.999;QD=11.23;ReadPosRankSum=1.99;SOR=0.71	GT:AD:DP:GQ:PL	0/0:537,0:537:99:0,120,1800	4	0	1	1
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	531.59	126	chr12	40509053	.	T	A	531.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.534;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.17;MQRankSum=-9.247;QD=1.45;ReadPosRankSum=2.63;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,16:153:99:0|1:40509053_T_A:240,0,5621:40509053	2	0	3	1
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	525.59	126	chr12	40509056	.	G	A	525.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.68;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.21;MQRankSum=-9.247;QD=1.43;ReadPosRankSum=2.51;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,16:155:99:0|1:40509053_T_A:234,0,5713:40509053	2	0	3	1
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509061	.	G	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.095;DP=617;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.24;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.33;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,15:148:99:0|1:40509053_T_A:229,0,5539:40509053	2	0	3	1
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509062	.	A	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.553;DP=620;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.3;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,15:148:99:0|1:40509053_T_A:229,0,5539:40509053	2	0	3	1
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	402.59	126	chr12	40509076	.	G	A	402.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.557;DP=620;ExcessHet=1.383;FS=1.434;MLEAC=3;MLEAF=0.3;MQ=59.29;MQRankSum=-9.192;QD=1.13;ReadPosRankSum=2.33;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,14:145:99:0|1:40509076_G_A:153,0,5431:40509076	2	0	3	1
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	359.59	131	chr12	40509081	.	T	C	359.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.302;DP=626;ExcessHet=1.383;FS=0.679;MLEAC=3;MLEAF=0.3;MQ=59.35;MQRankSum=-9.192;QD=0.99;ReadPosRankSum=2.32;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,13:146:99:0|1:40509076_G_A:125,0,5477:40509076	2	0	3	1
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	107.83	160	chr12	40511000	.	A	G	107.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.47;DP=708;ExcessHet=0;FS=39.946;MLEAC=1;MLEAF=0.083;MQ=58.99;MQRankSum=-14.09;QD=0.54;ReadPosRankSum=-4.309;SOR=5.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,114,1710:.	5	0	1	0
chr12	40535941	40535941	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00459265	0.0065	0.0052	0.0034	0	0.0025	0.0115	0.0136	0.0040	0.0019793	306	154602	rs117275013	0.0086	0.0082	0.0088	0.0084	0.0099	0.0085	0.0084	0.0097	0.0097	0.0018	0.0034	0.0070	8.395e-05	0.0027	0.0063	0.0099	0.0078	0.0045	0.0059	0.0059	0.0066	0.0053	0.0100	0.0056	0.0055	0.0093	0.0091	0.0021	0	0.0039	0.0061	0.0006	0.0017	0.0137	0.0100	0.0099	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1073.83	40	chr12	40535941	.	C	T	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=255;ExcessHet=0;FS=6.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.035;SOR=0.289	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	5	0	1	0
chr12	42466379	42466379	A	G	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon6:c.T590C:p.I197T,PRICKLE1:NM_001144882:exon6:c.T590C:p.I197T,PRICKLE1:NM_001144883:exon6:c.T590C:p.I197T,PRICKLE1:NM_153026:exon6:c.T590C:p.I197T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	.	.	.	.	.	.	0.5637	0.406	.	995203	Epilepsy,_progressive_myoclonic,_1B	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.890	0.24266398482	.	0.000399361	6.631e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs542029566	3.694e-05	3.762e-05	2.587e-05	4.813e-05	0.0006	2.894e-05	2.592e-05	0.0005	0.0004	0	0	0	0	0	0.0002	0	1.656e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.041340	1	0.81001	D	1.455	0.36767	L	-2.19	0.86815	D	-4.68	0.79659	D	0.881	0.88246	0.573	0.91544	D	0.720	0.90408	D	10	0.5556531	0.64502	D	0.242664	0.88769	D	0.890	0.96836	0.513	0.61153	0.885734670069	0.88461	0.5280373441810893	0.52727	1.24542469926	0.81664	0.960251808167	0.99912	D	0.638727	0.88894	D	0.159181	0.70124	D	0.347253	0.90209	D	0.556358819881684	0.34717	D	0.975436	0.91320	D	0.81084573	0.84609	0.7366969	0.84438	0.81084573	0.84611	0.7366969	0.84439	-10.102	0.74520	D	0.7613643801752861	0.84313	0.976	0.90812	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.410980	0.90574	31	0.99846920740889133	0.92663	0.99641	0.98258	D	AEFBI	0.916877	0.88369	D	0.717929488377348	0.80805	7.377013	0.713626673112203	0.83413	8.015133	0.999999984353166	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	9.325000	0.96006	11.144000	0.87156	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.335	0.73958	501	0.75956	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	904.83	72	chr12	42466379	.	A	G	904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.482;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.744;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr12	43462906	43462906	C	T	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon11:c.G1603A:p.G535S	.	.	.	.	.	.	.	.	.	.	.	3652959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.026750030341	.	.	7.957e-05	0	0	0.0002	0	6.212e-05	0	0.0002	3.88e-05	6	154602	rs778375054	1.446e-05	1.779e-05	1.369e-05	1.525e-05	0.0001	9.29e-06	7.89e-06	5.516e-05	4.129e-05	0.0001	2.3e-05	0	0	0	0	5.421e-06	1.666e-05	0.0001	7.885e-05	7.88e-05	5.138e-05	0.0001	0.0003	4.497e-05	3.512e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.131	0.26629	T	0.148	0.36365	T	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	2.59	0.75718	M	-0.1	0.67712	T	-2.67	0.57110	D	0.54	0.59901	-0.1327	0.79338	T	0.410	0.75873	T	10	0.41697222	0.56607	T	0.02675	0.49630	D	0.215	0.50805	.	.	0.874395811798	0.87316	0.7915550122668243	0.79107	0.258634915718	0.28424	0.540402770042	0.44502	T	.	.	.	-0.116057	0.33770	T	-0.18915	0.55669	T	0.73723578453064	0.42589	D	0.821518	0.51702	T	.	.	.	.	.	.	.	.	-5.956	0.45909	T	.	.	0.181	0.39322	B	.;.;.	.;.;.	3.702621	0.52811	23.3	0.99885006876818605	0.96049	0.99455	0.96243	D	AEFBI	0.792816	0.72100	D	0.675588115638195	0.78031	6.790707	0.650239159530515	0.78628	6.914719	0.999997224202895	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	4.87	4.87	0.62877	5.502000	0.66672	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	18.916	0.92479	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	518.83	54	chr12	43462906	.	C	T	518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.425;DP=222;ExcessHet=0;FS=2.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.481;SOR=0.425	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr12	45439774	45439774	G	A	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.G2626A:p.D876N	Scott syndrome, Autosomal recessive	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00758786	0.0049	0.0294	0.0025	0	0.0588	0.0024	0.0053	0.0014	0.0014812	229	154602	rs142698881	0.0038	0.0036	0.0039	0.0036	0.0292	0.0037	0.0037	0.0276	0.0270	0.0292	0.0025	0.0031	5.597e-05	0.0087	0.0081	0.0031	0.0048	0.0011	0.0096	0.0096	0.0087	0.0105	0.0256	0.0092	0.0090	0.0243	0.0238	0.0256	0	0.0033	0.0026	0	0.0120	0	0.0029	0.0048	0.0008	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.61	0.71779	T	0.73	0.02068	N	0.087	0.06454	-1.0453	0.15738	T	0.070	0.28412	T	9	0.0030485094	0.00050	T	.	.	.	0.066	0.19193	.	.	0.27132560031	0.26736	.	.	.	.	.	.	.	.	.	.	-0.634406	0.00090	T	-0.665133	0.07924	T	0.000498877279932547	0.00004	T	0.342266	0.07430	T	.	.	.	.	.	.	.	.	-2.697	0.07278	T	.	.	0.106	0.19598	B	.	.	-0.519929	0.01804	0.141	0.15850329424960052	0.00403	0.00207	0.01180	N	AEFBI	0.023692	0.01356	N	-1.7810413769565	0.00593	0.025559	-1.87690325032569	0.00543	0.02409833	0.99399070254426	0.33443	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.22	-4.45	0.03298	-1.971000	0.01593	-1.044000	0.06505	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2058:0.1647:0.6295	5.668	0.16981	711	0.56613	.	.	.	.	.	.	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	0.003175	0.000000	0.013514	0.012658	0.000000	0.000000	0.000000	0.000000	0.08333	869.83	70	chr12	45439774	.	G	A	869.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.916;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-1.83;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	5	0	1	0
chr12	45923022	45923022	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon13:c.A4039G:p.K1347E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0140460157348	0.0005	0.000399361	0.0006	0.0007	0.0002	0	0.0002	0.0008	0	0.0003	0.0005886	91	154602	rs146172345	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0003	3.826e-05	2.519e-05	1.872e-05	0.0003	0.0013	0.0012	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0002	0	0	0	0	0.0012	0.0005	0.0002	0.085	0.34982	T	0.183	0.29153	T	0.717	0.42239	P	0.18	0.35854	B	0.002173	0.37095	N	0.236663	0.732442	0.33733	D	1.845	0.48678	L	0.66	0.52416	T	-0.02	0.08653	N	0.202	0.27673	-0.9022	0.47760	T	0.096	0.36238	T	10	0.019759417	0.00446	T	0.014046	0.33902	T	0.078	0.22779	.	.	0.102598925029	0.09809	0.28772282256740944	0.28685	0.0884800177472	0.10002	0.354233920574	0.18543	T	0.086423	0.37720	T	-0.411205	0.01951	T	-0.419792	0.31100	T	0.0170265194643678	0.00451	T	0.871813	0.57812	D	0.07265105	0.16177	0.09037593	0.21189	0.07265105	0.16177	0.09037593	0.21189	-5.414	0.41054	T	.	.	0.142	0.31228	B	.;.;.	.;.;.	3.804134	0.54833	23.5	0.9958651360441354	0.73336	0.92382	0.55582	D	AEFGBI	0.451551	0.50548	N	0.123390694922054	0.47556	2.979629	0.235867578019921	0.51848	3.364023	0.680072360629302	0.22469	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.02	0.66742	3.674000	0.54333	6.696000	0.56356	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1475:0.8525	12.191	0.53582	849	0.35778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	702.83	37	chr12	45923022	.	T	C	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.715;DP=231;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.245;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1276	5	0	1	0
chr12	47844650	47844650	G	A	exonic	VDR	.	unknown	UNKNOWN	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	12	1509	1	0	0	1	0.000331236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975847220	2.492e-05	2.533e-05	1.56e-05	3.432e-05	7.183e-05	1.809e-05	1.601e-05	3.076e-05	2.091e-05	3.085e-05	0	0	0	0	0	2.61e-05	0	7.183e-05	4.595e-05	4.593e-05	6.422e-05	2.685e-05	0.0001	2.107e-05	1.526e-05	4.726e-05	3.044e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	406.83	29	chr12	47844650	.	G	A	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.59;SOR=0.622	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,598	5	0	1	0
chr12	48979627	48979627	T	A	exonic	WNT1	.	nonsynonymous SNV	WNT1:NM_005430:exon2:c.T264A:p.S88R	Osteogenesis imperfecta, type XV, Autosomal recessive	416	1091	15	0	0	15	0.00682749	.	.	.	215450	Osteogenesis_imperfecta|not_specified|not_provided|Osteogenesis_imperfecta_type_15|OSTEOPOROSIS,_EARLY-ONSET,_SUSCEPTIBILITY_TO	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666|MedGen:C3714945,OMIM:615221,Orphanet:85193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	0.0038	0.00279553	0.0030	0.0013	0.0017	0	0.0018	0.0044	0	0.0013	0.0031177	482	154602	rs61758378	0.0047	0.0047	0.0048	0.0046	0.0170	0.0046	0.0045	0.0143	0.0133	0.0015	0.0021	0.0052	0	0.0022	0.0170	0.0054	0.0046	0.0012	0.0037	0.0037	0.0039	0.0034	0.0061	0.0034	0.0033	0.0056	0.0054	0.0014	0	0.0024	0.0043	0	0.0016	0.0068	0.0061	0.0052	0.0006	0.177	0.22224	T	0.368	0.30926	T	0.174	0.28827	B	0.134	0.33146	B	0.000065	0.52346	D	0.163297	0.998096	0.44502	D	0.49	0.13296	N	-0.98	0.75789	T	-0.32	0.12283	N	0.461	0.49783	-1.0170	0.24690	T	0.149	0.47540	T	10	0.008583903	0.00194	T	.	.	.	0.316	0.63799	0.553	0.66995	0.376570364461	0.37271	0.749888599216709	0.74935	.	.	0.636694550514	0.58095	T	0.480335	0.80937	T	-0.378033	0.03206	T	-0.313876	0.43241	T	0.00763754133154457	0.00089	T	0.658334	0.26756	T	0.17814307	0.38818	0.17639557	0.40171	0.20008159	0.41971	0.15608479	0.36558	-7.852	0.60057	D	0.07982010861788254	0.03967	0.546	0.66601	A	.;.	.;.	1.308768	0.17114	12.97	0.98124746947429931	0.38465	0.41229	0.26611	N	AEFDBHCIJ	0.377588	0.46130	N	-0.960380011496076	0.09461	0.44787	-0.880464813226318	0.12557	0.6466163	0.989113297446559	0.31727	0.59774	0.34471	0	0.606814	0.50340	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.84	0.813	0.17891	-1.064000	0.03572	0.219000	0.16052	-1.002000	0.01800	0.006000	0.17386	0.975000	0.29991	0.980000	0.58198	0.0:0.5711:0.0:0.4289	8.002	0.29462	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013092	0.005051	0.013587	0.038012	0.000000	0.000000	0.009146	0.000000	0.08333	1852.83	119	chr12	48979627	.	T	A	1852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=305;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.093;SOR=0.537	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1380	5	0	1	0
chr12	49030304	49030304	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon43:c.C13975T:p.R4659W	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	995233	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.288	0.349753338637	.	0.000199681	5e-05	0	0	0.0002	0	0	0	0.0002	2.59e-05	4	154602	rs558561472	1.516e-05	1.573e-05	1.095e-05	1.943e-05	0.0001	9.93e-06	8.48e-06	4.946e-05	3.191e-05	2.999e-05	0	0	0.0001	0	0	1.446e-05	0	0	1.315e-05	1.313e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	.	.	.	0.978	0.58756	D	0.328	0.42011	B	0.545140	0.11495	N	0.712469	0.998578	0.22064	N	1.5	0.37844	L	-1.64	0.82533	D	-3.15	0.64132	D	0.307	0.34659	-0.7163	0.59644	T	0.308	0.67822	T	10	0.12035215	0.22794	T	0.349753	0.92237	D	0.288	0.60691	0.218	0.13932	0.36413608308	0.36018	0.13057394669557557	0.12982	0.15301633933	0.17264	0.33336353302	0.15442	T	0.216712	0.57896	T	-0.17094	0.25092	T	-0.257618	0.49063	T	0.40893092751503	0.29278	T	0.861714	0.55578	D	0.13003787	0.30354	0.2121448	0.45671	0.13003787	0.30354	0.2121448	0.45670	-5.621	0.42984	T	.	.	0.101	0.17573	B	.	.	3.225588	0.43964	21.8	0.97034509500761268	0.32084	0.88877	0.49021	D	AEFGBCI	0.253970	0.37337	N	0.0115953410347507	0.42383	2.552551	0.0873464406718693	0.43909	2.683141	0.0633056771283325	0.15291	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.58	3.68	0.41359	1.467000	0.34930	6.223000	0.55146	0.676000	0.76740	0.922000	0.32020	1.000000	0.68203	0.993000	0.69303	0.0:0.2944:0.7056:0.0	13.730	0.62260	415	0.81806	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	4165.06	33	chr12	49030304	.	G	A	4165.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.249;DP=463;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.901;SOR=0.711	GT:AD:DP:GQ:PL	0/1:68,95:163:99:2341,0,1550	4	0	2	0
chr12	49033873	49033893	TGCTGTTGTTGCTGCTGCTGC	-	exonic	KMT2D	.	nonframeshift deletion	KMT2D:NM_003482:exon40:c.10812_10832del:p.Q3606_Q3612del	Kabuki syndrome 1, Autosomal dominant	1	1515	4	0	2	6	0.00131839	.	.	.	1010470	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.341e-05	0	0	0	0	6.263e-05	0	0	3.84e-05	1	26028	rs772217807	7.857e-06	8.209e-06	9.878e-06	5.785e-06	2.822e-05	4.22e-06	3.08e-06	3.18e-06	2.3e-06	0	2.822e-05	0	0	2.026e-05	0	7.4e-06	0	1.278e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4127.79	35	chr12	49033872	.	TTGCTGTTGTTGCTGCTGCTGC	T	4127.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=498;ExcessHet=0;FS=1.608;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.66;SOR=0.586	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	5	0	1	0
chr12	49325590	49325590	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon4:c.C427T:p.R143C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0012	0.00319489	0.0005	0.0060	0.0002	0	0	1.499e-05	0.0011	0	0.0005304	82	154602	rs116282192	0.0002	0.0002	0.0002	0.0001	0.0067	0.0002	0.0002	0.0060	0.0057	0.0067	0.0002	0	0	0	0.0009	2.698e-06	0.0003	1.159e-05	0.0017	0.0017	0.0019	0.0014	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0010	0	0	0	0	0	0.0014	0.0002	0.003	0.68238	D	0.004	0.74150	D	0.022	0.44460	B	0.007	0.38314	B	0.261908	0.15298	N	0.612332	0.999409	0.21245	N	1.87	0.49600	L	1.85	0.24472	T	-2.98	0.79998	D	0.225	0.25253	-1.0586	0.12108	T	0.031	0.13374	T	10	0.005119741	0.00111	T	.	.	.	0.043	0.11576	.	.	0.156986980423	0.15292	0.07088714353574009	0.07025	0.247678955798	0.27324	0.372517466545	0.21192	T	0.09963	0.41958	T	-0.528514	0.00392	T	-0.530997	0.19186	T	0.0479185462392197	0.05130	T	0.772623	0.40374	T	0.1431296	0.32909	0.12747793	0.30687	0.1431296	0.32908	0.12747793	0.30686	-4.591	0.32058	T	.	.	0.124	0.26232	B	.;.;.	.;.;.	3.234093	0.44118	21.9	0.99749356761961872	0.84152	0.16675	0.19498	N	AEFBCI	0.076493	0.15390	N	-0.630319205477426	0.18038	0.9332797	-0.636085929858762	0.18569	0.9925117	0.999864023516925	0.44398	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.37	-1.96	0.07113	0.290000	0.18731	2.044000	0.30313	-0.185000	0.09859	0.970000	0.34288	1.000000	0.68203	0.977000	0.56843	0.0:0.4166:0.0:0.5834	10.197	0.42234	211	0.91797	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	380.83	36	chr12	49325590	.	C	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.665;DP=216;ExcessHet=0;FS=6.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.638;SOR=1.238	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1228	5	0	1	0
chr12	49326113	49326113	G	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon6:c.G671T:p.R224L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0013040679602	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs151075525	6.157e-06	6.156e-06	4.084e-06	8.251e-06	6.957e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.38633	T	0.146	0.35582	T	0.023	0.18885	B	0.02	0.19048	B	0.104402	0.19705	N	0.469736	1	0.08975	N	1.24	0.30952	L	.	.	.	-3.31	0.81910	D	0.209	0.23632	-1.0671	0.10062	T	0.044	0.18989	T	9	0.06349167	0.08278	T	0.001304	0.01809	T	0.151	0.39764	0.165	0.06955	0.19670166235	0.19296	0.14473839207143158	0.14396	0.234622177888	0.26005	0.32752686739	0.14560	T	0.083459	0.40340	T	-0.183656	0.23193	T	-0.320057	0.42569	T	0.0672936514019966	0.08266	T	0.658334	0.26756	T	0.08636794	0.20071	0.08435004	0.19397	0.08636794	0.20071	0.08435004	0.19397	-2.882	0.08965	T	.	.	0.106	0.27039	B	.;.;.;.	.;.;.;.	1.998393	0.25390	16.74	0.98984365271216301	0.49800	0.17912	0.20040	N	AEFGBCI	0.087488	0.17739	N	-1.03693845515869	0.07846	0.3658817	-1.06409116313896	0.08415	0.4137021	0.998540323730179	0.37167	0.634777	0.41761	0	0.615513	0.52658	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.24	-2.1	0.06809	0.294000	0.18803	-0.423000	0.09272	-0.110000	0.15115	0.652000	0.28189	0.000000	0.08366	0.590000	0.31140	0.3906:0.1503:0.3054:0.1537	1.055	0.01488	211	0.91797	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	853.83	36	chr12	49326113	.	G	T	853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=268;ExcessHet=0;FS=2.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-2.289;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1240	5	0	1	0
chr12	49330361	49330361	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C1516T:p.P506S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0048	0.00579073	0.0016	0.0163	0.0004	0	0	0.0002	0.0011	0.0002	0.00152	235	154602	rs149122510	0.0007	0.0007	0.0008	0.0006	0.0162	0.0006	0.0006	0.0151	0.0147	0.0162	0.0007	0	0	0.0001	0.0069	0.0003	0.0012	0.0002	0.0041	0.0041	0.0045	0.0037	0.0138	0.0039	0.0037	0.0129	0.0125	0.0138	0	0.0015	0	0	0.0003	0	0.0003	0.0038	0.0004	0.29	0.14996	T	0.104	0.38160	T	0.046	0.21875	B	0.047	0.24832	B	0.795129	0.09366	N	0.901128	1	0.08975	N	1.285	0.32305	L	.	.	.	-3.7	0.70553	D	0.091	0.06990	-1.0101	0.26886	T	0.016	0.06569	T	9	0.0037472546	0.00070	T	.	.	.	0.031	0.07369	.	.	0.0666544352282	0.05500	0.09259223556577317	0.09191	0.184474526274	0.20751	0.262075185776	0.05140	T	0.074194	0.34879	T	-0.686361	0.00044	T	-0.746362	0.03629	T	0.00876174434517882	0.00108	T	0.574643	0.20620	T	0.044997137	0.07289	0.08495607	0.19580	0.044997137	0.07288	0.08495607	0.19580	-4.886	0.35577	T	.	.	0.117	0.26669	B	.;.;.	.;.;.	1.095074	0.14792	11.33	0.64499042600607415	0.07510	0.04664	0.10340	N	AEFDGBI	0.086427	0.17524	N	-1.34718533951993	0.03154	0.140436	-1.42778241817446	0.02977	0.1380137	0.999909991782006	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.03	-4.75	0.03003	-0.655000	0.05447	-0.143000	0.11497	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.2245:0.3335:0.1107:0.3313	1.047	0.01473	202	0.92131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1332.83	36	chr12	49330361	.	C	T	1332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.29;DP=285;ExcessHet=0;FS=3.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.723;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	5	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.015244	0.007576	0.1667	4116.06	36	chr12	49330881	.	C	T	4116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.122;DP=513;ExcessHet=0.4139;FS=5.35;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.63;SOR=0.692	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	4	0	2	0
chr12	49556437	49556437	T	C	exonic	KCNH3	.	nonsynonymous SNV	KCNH3:NM_001314030:exon13:c.T2356C:p.S786P,KCNH3:NM_012284:exon13:c.T2536C:p.S846P	.	429	1078	14	1	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	.	0.0012	0.00259585	0.0031	0.0004	0.0012	0	0.0005	0.0022	0.0055	0.0124	0.0027296	422	154602	rs148051821	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0055	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.295	0.14743	T	0.276	0.21947	T	0.0	0.02946	B	0.0	0.01387	B	0.331584	0.14105	N	0.630201	0.942104	0.26760	N	0.345	0.11182	N	-5.15	0.98780	D	-1.17	0.29933	N	0.121	0.11197	0.265	0.86987	D	0.794	0.93025	D	10	0.0043319166	0.00088	T	.	.	.	0.345	0.66676	.	.	0.335408717102	0.33150	0.2503842600601469	0.24952	0.197926337022	0.22167	0.426624059677	0.28747	T	0.124711	0.44993	T	-0.373289	0.03431	T	-0.298592	0.44874	T	0.00673740653116864	0.00076	T	0.537746	0.18100	T	0.17111765	0.37726	0.15133056	0.35652	0.17111765	0.37725	0.15133056	0.35651	-2.388	0.05060	T	.	.	0.061	0.01179	B	.	.	1.978526	0.25134	16.65	0.97804569176901268	0.36084	0.12966	0.17585	N	AEFDBCI	0.095084	0.19217	N	-0.842254027099442	0.12240	0.5954797	-0.733479497031439	0.16130	0.8517694	0.999238427337869	0.38840	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	6.04	-0.853	0.10167	-0.063000	0.11612	0.448000	0.18493	0.665000	0.62972	0.001000	0.13787	0.912000	0.28152	0.995000	0.73285	0.0:0.464:0.0:0.536	9.876	0.40371	181	0.92953	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.015306	0.004076	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	592.83	35	chr12	49556437	.	T	C	592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.358;DP=237;ExcessHet=0;FS=5.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.521;SOR=1.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	5	0	1	0
chr12	49587731	49587731	C	G	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon7:c.G2556C:p.E852D	.	438	1069	14	1	0	16	0.00742804	.	.	.	1537360	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00259585	0.0032	0.0004	0.0012	0	0.0005	0.0022	0.0056	0.0128	0.0027749	429	154602	rs144854212	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0011	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.053	0.41096	T	0.0	0.92824	D	0.997	0.70673	D	0.921	0.65636	D	0.021531	0.26815	N	0.181745	0.999966	0.28338	N	2.115	0.58683	M	1.81	0.25182	T	-2.32	0.51478	N	0.388	0.42931	-0.8289	0.53371	T	0.176	0.51974	T	10	0.0042442977	0.00085	T	.	.	.	0.087	0.25287	0.693	0.83032	0.0297737177859	0.01360	0.37489820795600587	0.37403	0.563040792911	0.52758	0.323195874691	0.13905	T	0.054959	0.29870	T	-0.533521	0.00366	T	-0.529748	0.19311	T	0.0279865270322701	0.01686	T	0.574842	0.20648	T	0.08981976	0.20998	0.10498092	0.25225	0.10011285	0.23634	0.09886605	0.23584	-4.524	0.31201	T	.	.	0.281	0.51411	B	.;.	.;.	2.304664	0.29492	18.14	0.99765063224884831	0.85417	0.15078	0.18733	N	AEFDBHCI	0.068262	0.13457	N	-0.376212069457169	0.26320	1.435497	-0.507274566916856	0.21954	1.190188	0.889547586395909	0.25815	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.4	-0.887	0.10051	-0.272000	0.08591	-0.981000	0.06712	0.599000	0.40250	0.160000	0.23797	0.000000	0.08366	0.893000	0.43066	0.0:0.3613:0.0:0.6387	8.380	0.31625	197	0.92378	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009063	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	622.83	33	chr12	49587731	.	C	G	622.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.046;DP=253;ExcessHet=0;FS=1.992;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.174;SOR=1.044	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr12	49598939	49598939	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon5:c.C2180T:p.A727V	.	434	1063	24	1	0	26	0.0120818	.	.	.	702346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0032	0.00539137	0.0056	0.0007	0.0021	0	0.0014	0.0051	0.0077	0.0177	0.0051358	794	154602	rs140003810	0.0047	0.0047	0.0041	0.0052	0.0197	0.0046	0.0046	0.0189	0.0186	0.0005	0.0014	0.0002	2.519e-05	0.0021	0.0061	0.0042	0.0047	0.0197	0.0032	0.0033	0.0029	0.0036	0.0186	0.0030	0.0029	0.0155	0.0143	0.0008	0.0175	0.0014	0	0	0.0025	0.0034	0.0044	0.0038	0.0186	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.877850	0.07216	N	1.075970	1	0.08975	N	-2.08	0.00163	N	2.65	0.12676	T	3.44	0.00324	N	0.293	0.33140	-0.9574	0.39662	T	0.006	0.01944	T	9	0.0028708577	0.00046	T	.	.	.	0.048	0.13305	.	.	0.0138822411134	0.00435	0.006501787356334028	0.00618	0.126722892761	0.14277	0.278444051743	0.07277	T	0.003863	0.03272	T	-0.708018	0.00033	T	-0.775515	0.02591	T	0.00702456807184596	0.00080	T	0.516848	0.16688	T	0.02423376	0.01234	0.04665354	0.06548	0.020508569	0.00611	0.048685294	0.07282	-3.957	0.23158	T	.	.	0.049	0.00354	B	.;.	.;.	0.323841	0.06985	3.535	0.57663752355777087	0.05819	0.00054	0.00410	N	AEFDBI	0.019222	0.00648	N	-1.30293351847101	0.03642	0.163038	-1.17095918037805	0.06399	0.3079119	0.00212603477977625	0.09174	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.74	0.31352	2.305000	0.43324	4.702000	0.44414	-0.112000	0.15009	0.018000	0.19461	0.231000	0.23784	0.023000	0.12082	0.8125:0.0:0.1875:0.0	6.932	0.23625	231	0.90996	.;.	.	.	.	.	.	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	0.006546	0.000000	0.000000	0.008772	0.000000	0.000000	0.012195	0.015152	0.08333	790.83	39	chr12	49598939	.	G	A	790.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.567;DP=262;ExcessHet=0;FS=3.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.808;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1379	5	0	1	0
chr12	49600271	49600271	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon4:c.T1369G:p.F457V	.	419	1088	14	1	0	16	0.00729927	.	.	.	1604670	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0012	0.00259585	0.0031	0.0004	0.0013	0	0.0005	0.0022	0.0055	0.0124	0.0027684	428	154602	rs148848955	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.528	0.07163	T	0.615	0.08189	T	0.002	0.09854	B	0.004	0.10090	B	0.131584	0.02813	N	1.964920	1	0.08975	N	1.245	0.31408	L	2.85	0.10578	T	0.2	0.07590	N	0.063	0.03502	-0.9985	0.30339	T	0.015	0.05897	T	9	0.0038258433	0.00072	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.02506022555357011	0.02457	0.170960860832	0.19261	0.25391843915	0.04192	T	0.006459	0.05891	T	-0.713695	0.00030	T	-0.787562	0.02232	T	0.00239852839324041	0.00025	T	0.414759	0.10842	T	0.030541174	0.02737	0.030046115	0.01411	0.039639454	0.05511	0.040686384	0.04452	-2.123	0.03684	T	.	.	0.104	0.18746	B	.;.	.;.	-0.576906	0.01636	0.114	0.60102682728397716	0.06382	0.09813	0.15483	N	AEFDGBHCI	.	.	.	-1.31707158443633	0.03480	0.1555046	-1.42515154234731	0.03002	0.1392343	0.535150626161564	0.21207	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.37	-7.64	0.01146	-0.463000	0.06773	-0.879000	0.07072	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3358:0.1945:0.3604:0.1093	2.685	0.04790	233	0.90919	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.018939	0.08333	1015.83	33	chr12	49600271	.	A	C	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.751;DP=256;ExcessHet=0;FS=1.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.242;SOR=0.935	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr12	49604314	49604314	C	G	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon2:c.G321C:p.W107C	.	429	1078	14	1	0	16	0.00736648	0.9937	0.852	.	1618721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.497	.	0.0011	0.00259585	0.0031	0.0004	0.0012	0	0.0005	0.0022	0.0055	0.0127	0.0027037	418	154602	rs141974060	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0004	0	0.0006	0.0056	0.0017	0.0023	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001172	0.39978	N	0.000000	0.999999	0.58761	D	2.695	0.78878	M	-1.08	0.77078	T	-13.0	0.99878	D	0.771	0.76853	0.159	0.85208	D	0.604	0.85915	D	9	0.013077259	0.00279	T	.	.	.	0.497	0.78163	0.712	0.84781	0.745851321466	0.74356	0.3999457641578697	0.39909	0.749224044332	0.63684	0.499333530664	0.38735	T	0.163862	0.50909	T	0.0296349	0.55674	T	0.28018	0.87133	D	0.0662726229737814	0.08118	T	0.859314	0.55085	D	0.7051304	0.78338	0.798298	0.88163	0.74540913	0.80604	0.66761976	0.80507	-2.59	0.06428	T	.	.	0.909	0.84083	P	.;.	.;.	5.137794	0.86009	28.8	0.98973024641190199	0.49580	0.96060	0.67351	D	AEFDGI	0.497005	0.53170	N	0.696368580114305	0.79394	7.068448	0.674667878706576	0.80459	7.303645	0.99450599743449	0.33667	0.554377	0.28877	0	0.588066	0.40923	0	0.408882	0.06424	0	0.645665	0.59343	0	.	.	5.56	5.56	0.83678	2.575000	0.45689	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	15.415	0.74680	240	0.90628	.;.	.	.	.	.	.	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	0.009586	0.010101	0.004076	0.005882	0.000000	0.008621	0.015244	0.018939	0.08333	524.83	35	chr12	49604314	.	C	G	524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.917;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.166;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1292	5	0	1	0
chr12	49707142	49707142	C	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_001367835:exon1:c.G39T:p.E13D,FMNL3:NM_175736:exon1:c.G39T:p.E13D,FMNL3:NM_198900:exon1:c.G39T:p.E13D	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0010	0.00299521	0.0043	0.0004	0.0021	0	0.0012	0.0029	0.0089	0.0174	0.0024126	373	154602	rs200294583	0.0021	0.0021	0.0018	0.0024	0.0120	0.0021	0.0020	0.0113	0.0111	0.0006	0.0007	0.0004	0	0.0006	0.0054	0.0016	0.0024	0.0120	0.0013	0.0013	0.0012	0.0014	0.0110	0.0011	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0014	0.0110	0.512	0.07449	T	0.553	0.09725	T	0.0	0.02946	B	0.001	0.04355	B	0.056225	0.22577	N	0.445694	0.999974	0.18612	N	0.695	0.17993	N	-1.27	0.80387	T	-0.74	0.20791	N	0.129	0.25499	-0.9819	0.34561	T	0.181	0.52752	T	10	0.0050670207	0.00109	T	.	.	.	0.128	0.35103	0.106	0.01810	0.56265594507	0.55928	0.16400723662352634	0.16320	0.356036802147	0.37358	0.803074836731	0.82433	D	0.010304	0.09320	T	-0.475635	0.00785	T	-0.446598	0.28074	T	0.00898858313818023	0.00112	T	0.622938	0.24812	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.072	0.04436	B	.;.;.	.;.;.	1.685121	0.21476	15.21	0.91890903621303188	0.21209	0.72995	0.35713	D	AEFDBHCIJ	0.159408	0.28521	N	-0.86912710523105	0.11582	0.5597224	-0.705541733789153	0.16822	0.8917362	0.99999876687679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.61	0.207	0.14491	0.593000	0.23700	0.117000	0.14863	-0.351000	0.05566	0.938000	0.32564	0.944000	0.28851	0.892000	0.42986	0.0:0.4614:0.286:0.2526	5.020	0.13698	379	0.83778	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010606	0.015152	0.004076	0.011765	0.000000	0.017241	0.015337	0.011364	0.08333	167.83	34	chr12	49707142	.	C	A	167.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.091;DP=183;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.719;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	5	0	1	0
chr12	51342684	51342684	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon4:c.G217A:p.V73M	.	428	1093	1	0	0	1	0.000457247	.	.	.	3303790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.893	0.325534727345	0.0002	.	7.421e-05	9.625e-05	8.651e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs145791288	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	0.0003	4.967e-05	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.41e-05	0	0	0.041	0.41915	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-4.05	0.96496	D	-2.94	0.61435	D	0.846	0.84194	1.067	0.98520	D	0.929	0.97655	D	10	0.9299174	0.92333	D	0.325535	0.91601	D	0.893	0.96947	.	.	0.916288729468	0.91545	0.7135993069093439	0.71302	0.591077175418	0.54556	0.565438807011	0.48034	T	0.762551	0.93579	D	0.331359	0.85255	D	0.474866	0.94099	D	0.913032472133636	0.56916	D	0.918808	0.70803	D	0.7423358	0.80426	0.6428985	0.79130	0.7423358	0.80427	0.6428985	0.79131	-9.547	0.71151	D	.	.	0.656	0.71160	P	.	.	4.819463	0.78483	26.9	0.99771218298202502	0.85918	0.98640	0.85021	D	AEFDGBI	0.807879	0.73180	D	0.664872476260137	0.77336	6.654911	0.589770642658605	0.74202	6.097613	0.99999999999871	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	7.349000	0.78620	7.363000	0.58355	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:1.0:0.0:0.0	17.770	0.88399	303	0.87825	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1178.83	33	chr12	51342684	.	C	T	1178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.452;DP=288;ExcessHet=0;FS=0.727;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.152;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	5	0	1	0
chr12	52185475	52185475	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon2:c.G413A:p.R138Q,KRT80:NM_182507:exon2:c.G413A:p.R138Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0167987623252	7.7e-05	.	4.951e-05	0	0.0003	0	0	3.003e-05	0	0	3.88e-05	6	154602	rs140425330	3.489e-05	3.557e-05	3.131e-05	3.851e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	2.987e-05	0.0003	0	2.519e-05	0	0	2.878e-05	1.656e-05	2.319e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	0.0001	1.716e-05	1.13e-05	2.261e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.88e-05	0	0	0.048	0.40068	D	0.104	0.44106	T	0.545	0.39325	P	0.071	0.31939	B	0.046231	0.23460	N	0.216774	0.801189	0.34513	D	0.505	0.13445	N	-2.34	0.87989	D	-0.33	0.12472	N	0.171	0.18239	-0.1944	0.77816	T	0.305	0.67603	T	10	0.11524448	0.21706	T	0.016799	0.38225	T	0.338	0.66010	.	.	0.572862713182	0.56953	0.11341934152256358	0.11269	0.130674028925	0.14740	0.305781841278	0.11269	T	0.085918	0.37610	T	-0.303903	0.08296	T	-0.363794	0.37612	T	0.0612341104094052	0.07361	T	0.622038	0.23930	T	0.094941184	0.22334	0.13394745	0.32107	0.094941184	0.22334	0.13394745	0.32107	-4.416	0.29773	T	.	.	0.072	0.09433	B	.;.	.;.	1.609744	0.20572	14.81	0.99763032790064576	0.85254	0.44633	0.27361	N	AEFDGBCI	0.151159	0.27558	N	-0.26940601503668	0.30336	1.690547	-0.122552056054802	0.34482	1.98399	0.999999889772491	0.74766	0.50712	0.20391	0	0.59043	0.45803	0	0.527494	0.11647	0	0.635259	0.50027	0	.	.	4.84	3.95	0.44952	-0.043000	0.11996	.	.	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.454000	0.27984	0.0:0.9156:0.0:0.0844	11.971	0.52352	337	0.86119	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	688.83	33	chr12	52185475	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=230;ExcessHet=0;FS=2.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.216;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1161	5	0	1	0
chr12	52248734	52248734	G	A	exonic	KRT7	.	nonsynonymous SNV	KRT7:NM_005556:exon9:c.G1384A:p.A462T	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0002	0.0277556	0.0130	0.0001	0.0007	0.0952	0	7.866e-05	0.0085	0.0496	0.0114099	1764	154602	rs74761279	0.0054	0.0054	0.0044	0.0064	0.0914	0.0053	0.0053	0.0889	0.0878	0.0002	0.0003	0	0.0914	0	0.0017	0.0001	0.0074	0.0433	0.0051	0.0051	0.0037	0.0065	0.0972	0.0048	0.0047	0.0902	0.0874	0.0002	0	0.0003	0	0.0972	0	0	7.352e-05	0.0038	0.0510	1.0	0.00964	T	0.344	0.17804	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	-1.58	0.81987	D	0.3	0.04091	N	0.075	0.04913	-1.0971	0.04460	T	0.009	0.03227	T	9	0.0016668141	0.00020	T	.	.	.	0.095	0.27398	.	.	.	.	0.4400526626391532	0.43922	0.269543108968	0.29473	0.259349256754	0.04814	T	0.056403	0.30278	T	-0.550562	0.00289	T	-0.476768	0.24791	T	0.000785969789610126	0.00007	T	0.241376	0.03476	T	0.018106438	0.00332	0.047727853	0.06937	0.018106438	0.00332	0.047727853	0.06937	-3.105	0.11353	T	.	.	0.067	0.02518	B	.	.	0.170227	0.05595	2.048	0.78760455704777255	0.12441	0.02893	0.07682	N	AEFDGBCI	0.048208	0.08201	N	-1.40721045940161	0.02575	0.1138847	-1.41359339509129	0.03115	0.1446979	0.999999789266397	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.645665	0.59343	0	.	.	4.32	-1.63	0.07900	0.108000	0.15232	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3509:0.0:0.387:0.2621	4.163	0.09755	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006067	0.005051	0.000000	0.002959	0.000000	0.000000	0.006173	0.026515	0.08333	562.83	49	chr12	52248734	.	G	A	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.303;DP=223;ExcessHet=0;FS=1.129;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.202;SOR=1.048	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1108	5	0	1	0
chr12	52448859	52448859	C	T	exonic	KRT6B	.	nonsynonymous SNV	KRT6B:NM_005555:exon6:c.G1186A:p.D396N	Pachyonychia congenita 4	0	1470	50	2	0	54	0.0180361	.	.	.	1650215	not_provided|Pachyonychia_congenita_4|KRT6B-related_disorder	MedGen:C3661900|MONDO:MONDO:0014325,MedGen:C3714949,OMIM:615728,Orphanet:2309|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0370667917493	0.0048	0.00379393	0.0049	0.0008	0.0021	0	0.0047	0.0065	0.0066	0.0055	0.0048318	747	154602	rs138988810	0.0050	0.0050	0.0048	0.0053	0.0166	0.0049	0.0049	0.0140	0.0129	0.0008	0.0033	0.0042	0	0.0040	0.0166	0.0053	0.0051	0.0060	0.0047	0.0047	0.0047	0.0047	0.0086	0.0044	0.0043	0.0074	0.0069	0.0012	0.0077	0.0086	0.0029	0.0002	0.0048	0.0102	0.0063	0.0029	0.0066	0.002	0.72154	D	0.02	0.58613	D	0.982	0.60036	D	0.749	0.56004	P	0.000005	0.62929	D	0.000000	0.941029	0.37319	D	2.52	0.73523	M	-2.43	0.88689	D	-3.48	0.67941	D	0.206	0.22870	0.211	0.86091	D	0.611	0.86212	D	10	0.009766489	0.00220	T	0.037067	0.57386	D	0.323	0.64522	.	.	0.933383198423	0.93269	0.0682777528414946	0.06765	0.692663828589	0.60675	0.378177523613	0.21997	T	0.769912	0.93833	D	-0.448374	0.01155	T	-0.411285	0.32075	T	0.0317104304020713	0.02260	T	0.714629	0.32694	T	0.5250736	0.68550	0.40600243	0.64985	0.5250736	0.68551	0.40600243	0.64985	-12.26	0.86094	D	0.5008968298425475	0.57612	0.244	0.47837	B	.	.	3.883627	0.56458	23.7	0.99727823198475718	0.82549	0.79584	0.39464	D	AEFDBI	0.120194	0.23426	N	-0.15400297750387	0.35064	2.009386	-0.392549665494659	0.25217	1.385506	0.944437047773551	0.27615	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.75	-0.249	0.12368	2.146000	0.41840	.	.	0.549000	0.26987	0.944000	0.32806	0.000000	0.08366	0.975000	0.56047	0.0:0.7115:0.0:0.2885	8.354	0.31480	595	0.68488	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.018630	0.020202	0.017663	0.011696	0.000000	0.008621	0.021341	0.022727	0.08333	5451.83	451	chr12	52448859	.	C	T	5451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.2;DP=641;ExcessHet=0;FS=0.525;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-1.448;QD=12.09;ReadPosRankSum=0.103;SOR=0.753	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1285	5	0	1	0
chr12	52813937	52813937	C	T	exonic	KRT4	.	nonsynonymous SNV	KRT4:NM_002272:exon1:c.G122A:p.R41Q	White sponge nevus 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	332091	not_provided|White_sponge_nevus_1|KRT4-related_disorder	MedGen:C3661900|MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0090	0.00978435	0.0030	0.0337	0.0020	0	0	3e-05	0.0011	0.0002	0.0029172	451	154602	rs36143766	0.0009	0.0009	0.0010	0.0007	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0022	0	2.52e-05	0	0.0010	8.994e-06	0.0017	8.121e-05	0.0097	0.0097	0.0103	0.0091	0.0336	0.0093	0.0092	0.0321	0.0316	0.0336	0	0.0051	0	0	0	0.0034	1.482e-05	0.0063	0	0.338	0.12796	T	0.261	0.22962	T	.	.	.	.	.	.	0.000192	0.48115	D	0.000000	0.893543	0.27837	N	.	.	.	-0.92	0.75108	T	-1.33	0.33197	N	0.33	0.37093	-0.3171	0.74503	T	0.362	0.72315	T	8	0.005156547	0.00112	T	.	.	.	0.283	0.60100	.	.	0.750451137159	0.74819	0.13925180537573262	0.13848	0.451143628614	0.44869	0.291866779327	0.09194	T	.	.	.	-0.451683	0.01104	T	-0.395826	0.33870	T	0.0220787216294994	0.00918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18080	B	.	.	3.117862	0.42078	21.5	0.99935577362639472	0.99579	0.91802	0.54294	D	AEFDBI	0.250390	0.37044	N	0.101504505063705	0.46532	2.892205	0.111911612038641	0.45157	2.783895	0.999985067986371	0.51787	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	0.896000	0.28009	.	.	0.544000	0.25403	0.000000	0.06391	1.000000	0.68203	0.465000	0.28230	0.0:0.8578:0.1422:0.0	14.991	0.71043	657	0.62240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	1611.83	39	chr12	52813937	.	C	T	1611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.782;DP=304;ExcessHet=0;FS=0.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.881;SOR=0.578	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr12	53054426	53054426	C	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon7:c.C537A:p.H179Q,TNS2:NM_170754:exon7:c.C507A:p.H169Q,TNS2:NM_198316:exon7:c.C135A:p.H45Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	0.325057946928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999996	0.58761	D	.	.	.	-5.04	0.98594	D	-7.16	0.94120	D	0.827	0.82257	1.079	0.98838	D	0.977	0.99277	D	10	0.8484609	0.84017	D	0.325058	0.91588	D	0.873	0.96207	0.553	0.66995	0.706899689419	0.70434	0.8222501660993322	0.82182	0.837771134637	0.67883	0.876588702202	0.93497	D	0.859903	0.96882	D	0.537675	0.95355	D	0.534556	0.95286	D	0.996442854404449	0.89358	D	0.910709	0.70532	D	0.92715234	0.93952	0.8747276	0.93194	0.92715234	0.93952	0.8747276	0.93194	-11.657	0.85498	D	.	.	0.969	0.93759	P	.;.;.;.;.;.	.;.;.;.;.;.	4.363546	0.67123	25.1	0.99336034129106998	0.59973	0.78085	0.38474	D	ALL	0.609664	0.59878	D	0.787888631262972	0.85342	8.547452	0.679875592318111	0.80854	7.392078	1.0	0.98316	0.441713	0.08003	0	0.179345	0.04101	3	0.47417	0.07244	0	0.56214	0.19341	0	.	.	4.93	4.93	0.64394	0.706000	0.25365	2.165000	0.31010	0.520000	0.23804	0.998000	0.41325	1.000000	0.68203	0.953000	0.50222	0.0:0.903:0.0:0.097	9.625	0.38910	762	0.50290	.;.;Tensin-type phosphatase domain;.;.;Tensin-type phosphatase 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	.	.	.	.	.	.	.	.	0.08333	1213.83	35	chr12	53054426	.	C	A	1213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.286;DP=273;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.17;SOR=0.569	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1224,0,1040	5	0	1	0
chr12	53060824	53060824	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.C2948T:p.P983L,TNS2:NM_170754:exon20:c.C2918T:p.P973L,TNS2:NM_198316:exon20:c.C2546T:p.P849L	.	422	1099	1	0	0	1	0.000454752	.	.	.	2091589	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.213	.	0.0030	0.00279553	0.0011	0.0109	0.0007	0	0	8.489e-05	0	0.0001	0.0009573	148	154602	rs143336823	0.0004	0.0004	0.0004	0.0004	0.0110	0.0004	0.0004	0.0101	0.0097	0.0110	0.0009	3.844e-05	0	0	0.0017	5.953e-05	0.0016	6.979e-05	0.0029	0.0029	0.0029	0.0029	0.0097	0.0027	0.0026	0.0089	0.0086	0.0097	0	0.0022	0	0	0	0.0034	7.35e-05	0.0028	0	0.001	0.78490	D	0.017	0.72224	D	0.137	0.27402	B	0.109	0.31370	B	0.267283	0.15197	N	0.629993	1	0.08975	N	.	.	.	-3.64	0.95145	D	-2.66	0.77881	D	0.255	0.31925	-0.2562	0.76191	T	0.492	0.80713	T	10	0.0036511123	0.00067	T	.	.	.	0.213	0.50496	.	.	0.206339911435	0.20273	0.4273900725108311	0.42656	0.228357691727	0.25387	0.376614689827	0.21775	T	0.572495	0.85868	D	-0.247305	0.14432	T	-0.120336	0.61774	T	0.0234263311135602	0.01074	T	0.724828	0.33863	T	0.06543151	0.13983	0.09877785	0.23560	0.06543151	0.13982	0.09877785	0.23559	-5.749	0.44128	T	.	.	0.074	0.26106	B	.;.;.;.;.;.	.;.;.;.;.;.	2.081076	0.26466	17.13	0.58663451390436661	0.06044	0.21259	0.21338	N	AEFDGBCI	0.249323	0.36957	N	-0.841679741999381	0.12255	0.5962563	-0.830778996687116	0.13750	0.7150136	0.999999972191263	0.74766	0.645754	0.44609	0	0.514364	0.08380	0	0.536957	0.11973	0	0.723	0.93126	0	.	.	4.45	3.56	0.39892	0.893000	0.27970	3.160000	0.36564	-0.182000	0.10109	0.000000	0.06391	0.082000	0.22400	0.005000	0.06747	0.0:0.8937:0.0:0.1063	8.535	0.32518	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008569	0.000000	0.016304	0.008772	0.000000	0.017241	0.000000	0.000000	0.08333	864.83	39	chr12	53060824	.	C	T	864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.809;DP=242;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.133;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	5	0	1	0
chr12	53102094	53102094	G	A	exonic	IGFBP6	.	nonsynonymous SNV	IGFBP6:NM_002178:exon4:c.G650A:p.R217Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	702388	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0078	0.00798722	0.0024	0.0256	0.0012	0.0001	0	0.0001	0.0022	0.0002	0.0023286	360	154602	rs6413498	0.0009	0.0009	0.0010	0.0008	0.0244	0.0008	0.0008	0.0230	0.0224	0.0244	0.0014	0	7.56e-05	0	0.0021	0.0002	0.0026	0.0002	0.0072	0.0072	0.0074	0.0071	0.0245	0.0069	0.0067	0.0232	0.0227	0.0245	0	0.0038	0	0.0004	0	0.0034	0.0002	0.0043	0.0006	0.056	0.38185	T	0.266	0.23097	T	1.0	0.90584	D	0.943	0.67921	D	0.001364	0.39242	N	0.216249	0.996469	0.24820	N	0.895	0.22405	L	-0.07	0.63738	T	-0.77	0.22508	N	0.289	0.32701	-0.9345	0.43470	T	0.112	0.40006	T	10	0.0067591667	0.00153	T	.	.	.	0.125	0.34456	.	.	0.735826198445	0.73346	0.4424469497750818	0.44161	1.07517792707	0.76937	0.464976012707	0.33992	T	0.010618	0.37438	T	-0.430282	0.01477	T	-0.371923	0.36665	T	0.0314829211122555	0.02223	T	0.893911	0.63238	D	0.14539294	0.33331	0.13118123	0.31504	0.14539294	0.33330	0.13118123	0.31503	-4.726	0.33718	T	.	.	0.148	0.32685	B	.;.;.;.	.;.;.;.	5.377999	0.90137	31	0.99943831854354603	0.99868	0.55657	0.29919	D	AEFDBCI	0.222058	0.34660	N	0.356157967015456	0.59066	4.08303	0.335603151047696	0.57646	3.930994	0.999994451766463	0.74766	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.699875	0.68795	0	.	.	4.51	3.6	0.40374	2.711000	0.46845	8.203000	0.76806	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2102:0.7898:0.0	10.330	0.43000	778	0.48011	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1;Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.000000	0.009511	0.002924	0.000000	0.017241	0.000000	0.003788	0.08333	516.83	35	chr12	53102094	.	G	A	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.188;DP=206;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=2.64;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1012	5	0	1	0
chr12	53196758	53196758	G	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon6:c.C637A:p.R213S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0825578291581	0.0004	0.000599042	0.0006	0	0.0012	0	0	0.0008	0.0011	0	0.0006015	93	154602	rs11574537	0.0006	0.0006	0.0006	0.0006	0.0054	0.0005	0.0005	0.0039	0.0034	0.0004	0.0016	0.0091	0	0	0.0054	0.0003	0.0017	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0104	0	0	0.0170	0.0006	0.0028	0	0.011	0.55530	D	0.197	0.27855	T	0.221	0.30336	B	0.107	0.31211	B	0.267061	0.15201	N	0.491750	1	0.08975	N	1.465	0.36909	L	-3.02	0.92258	D	-2.02	0.46503	N	0.44	0.49965	-0.2706	0.75795	T	0.559	0.83919	D	10	0.0107575655	0.00238	T	0.082558	0.73927	D	0.338	0.66010	.	.	0.883221294441	0.88207	0.5358905244624111	0.53514	0.565344544128	0.52876	0.361900389194	0.19662	T	0.605	0.87387	D	-0.225307	0.17273	T	-0.131792	0.60821	T	0.0129271835238952	0.00223	T	0.819518	0.63671	T	0.43884242	0.63328	0.22037275	0.46810	0.43884242	0.63328	0.22037275	0.46809	-6.585	0.50938	T	.	.	0.151	0.38658	B	.;.;.	.;.;.	3.489234	0.48758	22.7	0.99037735821458062	0.50939	0.17479	0.19855	N	AEFBCI	0.202013	0.32864	N	-0.321542058664074	0.28331	1.561775	-0.250838444849185	0.29742	1.66884	0.998527127172996	0.37129	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.05	4.15	0.47978	0.455000	0.21555	6.637000	0.56171	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.0:0.1485:0.6978:0.1538	10.113	0.41745	744	0.52588	Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.009511	0.011696	0.000000	0.008621	0.003049	0.000000	0.1667	3206.06	35	chr12	53196758	.	G	T	3206.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.37;DP=430;ExcessHet=0.4139;FS=6.482;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.976;SOR=0.87	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1340,0,1556	4	0	2	0
chr12	53288179	53288179	G	A	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon19:c.G4384A:p.A1462T	.	419	1100	3	0	0	3	0.00136178	.	.	.	713610	ESPL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0070	0.00738818	0.0027	0.0199	0.0041	0	0	0.0011	0.0027	0	0.0024903	385	154602	rs61752572	0.0014	0.0014	0.0014	0.0013	0.0184	0.0013	0.0013	0.0172	0.0167	0.0184	0.0050	0.0014	0	0	0.0082	0.0008	0.0033	1.162e-05	0.0059	0.0059	0.0061	0.0058	0.0168	0.0056	0.0055	0.0158	0.0154	0.0168	0	0.0065	0.0032	0	0	0.0136	0.0010	0.0095	0.0002	0.232	0.18184	T	0.259	0.23097	T	0.0	0.02946	B	0.001	0.04355	B	0.698810	0.10111	N	0.881022	1	0.08975	N	1.59	0.40313	L	2.68	0.12371	T	-0.44	0.14588	N	0.079	0.05414	-0.9737	0.36409	T	0.011	0.04274	T	10	0.002418816	0.00036	T	.	.	.	0.030	0.07022	.	.	0.110392049598	0.10638	0.18690976141324744	0.18608	0.225285402784	0.25073	0.393876165152	0.24214	T	0.041952	0.26026	T	-0.725831	0.00025	T	-0.801103	0.01875	T	0.00152989259094374	0.00015	T	0.612939	0.23352	T	0.022730958	0.00957	0.04160076	0.04765	0.022730958	0.00956	0.04160076	0.04765	-3.902	0.22333	T	.	.	0.079	0.07507	B	.;.	.;.	1.629817	0.20810	14.92	0.96508862091439751	0.30072	0.08948	0.14798	N	AEFGBHCI	0.038965	0.05593	N	-0.909765494252407	0.10613	0.5079829	-0.846558416796685	0.13370	0.6932312	0.999917602820296	0.45857	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.662433	0.64102	0	.	.	6.01	3.08	0.34576	0.075000	0.14547	0.241000	0.16308	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.1636:0.0:0.5316:0.3048	4.683	0.12124	701	0.57775	.;.	.	.	.	.	.	Likely benign	0	0	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	0.012601	0.040816	0.020380	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	510.83	72	chr12	53288179	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.525;DP=379;ExcessHet=0;FS=2.273;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.676;SOR=0.405	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,103,1624	5	0	1	0
chr12	53299799	53299799	C	T	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C62T:p.T21I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00763810955466	0.0004	0.00199681	0.0014	0.0004	0.0002	0	0	0.0003	0	0.0085	0.001216	188	154602	rs138986768	0.0006	0.0006	0.0004	0.0009	0.0072	0.0006	0.0006	0.0068	0.0066	0.0007	0.0004	0	0	1.873e-05	0.0035	0.0002	0.0010	0.0072	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0045	0.0005	0	0	0	0	0	0	0.0002	0.0005	0.0070	0.021	0.49117	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.060189	0.02130	N	1.921390	1	0.19599	N	0.345	0.11182	N	1.0	0.41392	T	-0.42	0.14193	N	0.13	0.12484	-1.0250	0.22083	T	0.058	0.24317	T	10	0.003104955	0.00052	T	0.007638	0.20272	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.3777003793617032	0.37685	0.161219827377	0.18198	.	.	.	0.074533	0.34960	T	-0.635653	0.00088	T	-0.680439	0.06957	T	0.002566478180763	0.00027	T	0.458254	0.13193	T	0.050026316	0.08975	0.06833154	0.14257	0.050026316	0.08974	0.06833154	0.14257	-4.501	0.30902	T	.	.	0.115	0.22861	B	.	.	0.440373	0.08107	4.834	0.92249702680281398	0.21629	0.02084	0.06195	N	ALL	0.141607	0.26383	N	-1.32281383607669	0.03415	0.1525198	-1.34068077621244	0.03916	0.1836955	0.999999999999691	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-1.21	0.09033	-0.091000	0.11111	-0.278000	0.10292	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4484:0.2802:0.2714	5.448	0.15843	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1786.83	121	chr12	53299799	.	C	T	1786.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.559;DP=329;ExcessHet=0;FS=2.459;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.125;SOR=0.984	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr12	53985819	53985819	T	G	exonic	HOXC10	.	nonsynonymous SNV	HOXC10:NM_017409:exon1:c.T560G:p.L187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	.	0.0018	0.00299521	0.0008	0.0088	0.0002	0	0	0	0	0	0.000705	109	154602	rs141237360	0.0002	0.0002	0.0002	0.0001	0.0074	0.0002	0.0002	0.0067	0.0064	0.0074	0.0002	0	0	0	0.0003	3.597e-06	0.0002	0	0.0020	0.0020	0.0022	0.0019	0.0074	0.0018	0.0018	0.0067	0.0064	0.0074	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.724	0.55036	P	0.016191	0.28043	N	0.340164	0.999942	0.51968	D	1.78	0.46185	L	-2.95	0.91903	D	-3.85	0.72353	D	0.696	0.70088	0.178	0.85543	D	0.639	0.87376	D	10	0.008725882	0.00198	T	.	.	.	0.694	0.88913	.	.	0.902967721684	0.90200	0.44607338644858047	0.44525	0.642444202112	0.57808	0.770813584328	0.77547	T	0.240507	0.60885	T	-0.0830483	0.39217	T	0.11348	0.77803	D	0.105624943537286	0.12964	T	0.750125	0.37153	T	0.43477315	0.63064	0.26943228	0.52823	0.43477315	0.63065	0.26943228	0.52822	-3.726	0.19703	T	.	.	0.230	0.46296	B	.;.	.;.	3.438041	0.47809	22.5	0.99305889968440952	0.58795	0.80977	0.40481	D	AEFDGBCI	0.482413	0.52329	N	0.243716152092328	0.53329	3.502246	0.260005964663049	0.53220	3.492088	0.999999974231599	0.74766	0.676563	0.55306	0	0.596491	0.49125	0	0.596491	0.31596	0	0.600526	0.37237	0	.	.	4.63	4.63	0.57175	2.786000	0.47479	7.784000	0.68736	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.338	0.59969	195	0.92448	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	572.83	80	chr12	53985819	.	T	G	572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.443;DP=291;ExcessHet=0;FS=8.321;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-1.187;SOR=0.495	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	428.48	78	chr12	54363394	.	G	A	428.48	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.22;DP=463;ExcessHet=1.383;FS=284.876;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.03;SOR=8.739	GT:AD:DP:GQ:PL	0/1:59,36:95:99:276,0,1101	3	0	3	0
chr12	55027377	55027377	A	G	exonic	NEUROD4	.	nonsynonymous SNV	NEUROD4:NM_021191:exon2:c.A938G:p.Y313C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.27222622422	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs753364277	6.158e-06	6.156e-06	4.084e-06	8.252e-06	0.0002	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	0	0	2.629e-05	2.627e-05	2.569e-05	2.691e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	0.986	0.61523	D	0.733	0.55393	P	0.000007	0.62929	D	0.111909	0.99993	0.51612	D	2.165	0.60562	M	-3.98	0.96277	D	-5.08	0.82896	D	0.578	0.59986	0.886	0.95484	D	0.886	0.96202	D	10	0.81559825	0.80802	D	0.272226	0.89922	D	0.796	0.93306	.	.	0.995622052244	0.99558	.	.	0.100008103552	0.11303	0.540159344673	0.44467	T	0.500059	0.82081	D	0.0873602	0.62892	D	0.124379	0.78524	D	0.900918662548065	0.55354	D	0.838016	0.51077	T	0.62621504	0.74096	0.4835218	0.70098	0.62621504	0.74097	0.4835218	0.70099	-5.452	0.41417	T	.	.	0.111	0.21691	B	.	.	4.007284	0.59093	24.1	0.99726278775254484	0.82406	0.98426	0.82655	D	AEFBI	0.590779	0.58713	D	0.495272740743709	0.66812	4.998977	0.479349574887523	0.66624	4.976265	0.0012434599391279	0.08372	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	4.61	0.56724	3.998000	0.56736	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8559:0.0:0.0:0.1441	10.615	0.44633	845	0.36510	.	.	.	.	.	.	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	1865.83	157	chr12	55027377	.	A	G	1865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.041;DP=370;ExcessHet=0;FS=5.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.23;SOR=0.378	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R	.	428	1048	45	1	0	47	0.0219319	.	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	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	0.030211	0.040404	0.032609	0.040936	0.000000	0.034483	0.009146	0.011364	0.08333	946.83	39	chr12	55321464	.	A	C	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.714;DP=294;ExcessHet=0;FS=3.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.957;SOR=1.194	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	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	0.012085	0.020202	0.012228	0.014620	0.000000	0.008621	0.006098	0.003788	0.08333	1310.83	34	chr12	55452341	.	T	C	1310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.169;DP=273;ExcessHet=0;FS=0.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.48;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1068	5	0	1	0
chr12	55492412	55492412	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T35C:p.L12P	.	429	1063	28	2	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	0.0022	0.00339457	0.0025	0.0002	0.0024	0	0.0032	0.0031	0.0033	0.0027	0.0024515	379	154602	rs117985155	0.0026	0.0026	0.0026	0.0027	0.0136	0.0025	0.0025	0.0111	0.0103	0.0004	0.0023	3.836e-05	0	0.0024	0.0136	0.0028	0.0030	0.0021	0.0024	0.0024	0.0023	0.0024	0.0039	0.0022	0.0021	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0046	0.0068	0.0032	0.0052	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.071944	0.21440	N	0.188860	0.991601	0.24010	N	3.865	0.95877	H	6.57	0.00522	T	-6.21	0.90411	D	0.789	0.78546	-1.0266	0.21560	T	0.010	0.03673	T	10	0.025379002	0.00734	T	.	.	.	0.203	0.48915	.	.	0.177238962908	0.17366	0.38092511495990716	0.38007	0.0215845920009	0.02143	0.269143164158	0.06029	T	0.051137	0.28794	T	-0.20296	0.20379	T	-0.0648343	0.65993	T	0.118353866398319	0.14268	T	0.852615	0.53799	D	0.8558097	0.87768	0.7081278	0.82788	0.8558097	0.87769	0.7081278	0.82789	-12.4	0.86745	D	.	.	0.215	0.44371	B	.	.	3.080598	0.41440	21.4	0.99791937209125881	0.87750	0.80020	0.39772	D	AEFI	0.543391	0.55874	D	0.576986557413594	0.71740	5.697058	0.34508044901819	0.58213	3.990421	0.900635547758469	0.26081	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.322000	0.72847	.	.	0.650000	0.52971	0.772000	0.29380	0.366000	0.24545	0.004000	0.06068	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.020380	0.008772	0.000000	0.017241	0.006098	0.000000	0.08333	990.83	35	chr12	55492412	.	T	C	990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.321;DP=253;ExcessHet=0;FS=4.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.816;SOR=1.297	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	5	0	1	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.25	3570.0	40	chr12	55681815	.	C	T	3570.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.59;DP=308;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.181;SOR=0.703	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2574,255,0	4	1	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.25	3352.0	41	chr12	55693209	.	C	T	3352.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.84;DP=299;ExcessHet=0;FS=0.766;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.632;SOR=0.667	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2337,234,0	4	1	1	0
chr12	56133454	56133454	G	A	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon11:c.G1282A:p.V428I,ESYT1:NM_015292:exon11:c.G1282A:p.V428I	.	.	.	.	.	.	.	.	.	.	.	2708109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00275134929484	0.0002	.	9.06e-05	0.0005	0.0002	0.0001	0	1.498e-05	0	0.0001	7.12e-05	11	154602	rs142549493	2.668e-05	2.736e-05	2.995e-05	2.338e-05	0.0006	1.997e-05	1.754e-05	0.0004	0.0003	0.0006	0.0001	0	5.038e-05	0	0	5.396e-06	3.312e-05	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.534e-05	0	0	0	0	0	0	0	0.143	0.25355	T	0.384	0.16086	T	0.004	0.15535	B	0.002	0.14300	B	0.027737	0.25711	N	0.392439	0.999721	0.20581	N	1.67	0.42885	L	2.99	0.09262	T	-0.3	0.11913	N	0.243	0.27435	-1.0149	0.25368	T	0.021	0.08870	T	10	0.0518066	0.05119	T	0.002751	0.05694	T	0.020	0.03691	.	.	0.168933306366	0.16529	0.10437847837395371	0.10367	.	.	0.488499403	0.37230	T	0.047479	0.27735	T	-0.508217	0.00514	T	-0.585827	0.14030	T	0.00994456559419632	0.00132	T	0.120988	0.02517	T	0.01733836	0.00264	0.03634245	0.03063	0.01733836	0.00264	0.03634245	0.03062	-5.988	0.46179	T	.	.	0.074	0.04889	B	.;.	.;.	2.034842	0.25866	16.91	0.94529313442569629	0.25027	0.82597	0.41802	D	AEFDBCI	0.146565	0.27005	N	-0.387326839435136	0.25920	1.410684	-0.28174258194684	0.28699	1.602204	0.999943569560243	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.51	3.61	0.40494	3.145000	0.50320	4.543000	0.43772	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.332000	0.25247	0.0:0.1609:0.6726:0.1665	9.107	0.35865	395	0.83006	C2 domain|C2 domain|Extended synaptotagmin, C2A 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	.	.	.	.	.	.	.	.	0.08333	685.83	39	chr12	56133454	.	G	A	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.193;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.858;SOR=0.726	GT:AD:DP:GQ:PL	0/1:36,29:65:99:696,0,892	5	0	1	0
chr12	56672994	56672994	T	C	exonic	PTGES3	.	nonsynonymous SNV	PTGES3:NM_001282601:exon2:c.A74G:p.K25R,PTGES3:NM_001282602:exon2:c.A74G:p.K25R,PTGES3:NM_001282603:exon2:c.A74G:p.K25R,PTGES3:NM_001282605:exon2:c.A74G:p.K25R,PTGES3:NM_006601:exon2:c.A74G:p.K25R,PTGES3:NM_001282604:exon3:c.A86G:p.K29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0032	0.00359425	0.0009	0.0096	0.0010	0	0	1.512e-05	0	6.139e-05	0.000912	141	154602	rs141815775	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0090	0.0087	0.0099	0.0008	0	0	0	0.0010	2.791e-05	0.0007	2.369e-05	0.0025	0.0025	0.0026	0.0024	0.0088	0.0023	0.0022	0.0080	0.0077	0.0088	0	0.0008	0	0	0	0.0034	4.41e-05	0.0019	0	0.093	0.37326	T	0.3	0.20357	T	0.028	0.19712	B	0.055	0.25995	B	0.000000	0.84330	N	0.087616	0.99999	0.58761	D	2.11	0.58565	M	2.44	0.34253	T	-1.54	0.43149	N	0.284	0.34874	-0.9474	0.41414	T	0.104	0.38193	T	10	0.008946389	0.00202	T	.	.	.	0.115	0.32236	.	.	0.573183931521	0.56985	0.4462146497201051	0.44539	0.77212903692	0.64820	0.761217713356	0.76110	T	0.172218	0.52063	T	-0.441895	0.01260	T	-0.400563	0.33319	T	0.0237027004209731	0.01108	T	0.761624	0.44558	T	0.23668185	0.46522	0.10100398	0.24167	0.23668185	0.46522	0.10100398	0.24167	-6.511	0.50371	T	.	.	0.085	0.16363	B	.;.;.;.;.;.	.;.;.;.;.;.	3.860739	0.55989	23.7	0.99715837143847208	0.81703	0.95929	0.66766	D	AEFBI	0.626037	0.60901	D	0.179023364973356	0.50193	3.211645	0.255235454337663	0.52946	3.466342	0.999998241394209	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.724815	0.87919	0	0.677812	0.66336	0	.	.	5.56	4.39	0.52211	5.072000	0.64217	4.941000	0.46210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0761:0.0:0.9239	10.819	0.45799	52	0.97609	CS domain|CS domain;CS domain|CS 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	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1063.83	33	chr12	56672994	.	T	C	1063.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.916;DP=256;ExcessHet=0;FS=4.118;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.826;SOR=1.162	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	5	0	1	0
chr12	56720277	56720277	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.C1253G:p.S418C,NACA:NM_001365896:exon3:c.C1253G:p.S418C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0031	0.00379393	0.0010	0.0109	0.0010	0	0	1.508e-05	0	6.057e-05	0.0009702	150	154602	rs150062953	0.0003	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0102	0.0098	0.0111	0.0008	0	0	0	0.0010	2.878e-05	0.0006	2.319e-05	0.0028	0.0028	0.0029	0.0027	0.0096	0.0026	0.0025	0.0088	0.0085	0.0096	0	0.0009	0	0	0	0.0034	4.409e-05	0.0033	0	0.007	0.72154	D	0.026	0.55759	D	0.999	0.77913	D	0.907	0.64423	P	.	.	.	.	1	0.19781	N	0.695	0.17993	N	0.5	0.55608	T	-1.27	0.31981	N	0.264	0.30914	-1.0331	0.19459	T	0.078	0.30982	T	9	0.0065028965	0.00147	T	.	.	.	0.093	0.26882	.	.	0.469742815239	0.46599	0.06288779749462468	0.06227	0.128824282099	0.14521	0.270689249039	0.06232	T	0.114	0.43201	T	-0.452125	0.01097	T	-0.412828	0.31899	T	0.0287940701884974	0.01806	T	0.463154	0.13467	T	0.09373941	0.22025	0.11285404	0.27232	0.09373941	0.22024	0.11285404	0.27231	-6.533	0.51160	T	.	.	0.177	0.38747	B	.;.	.;.	2.449566	0.31538	18.77	0.94128268143397809	0.24311	0.75237	0.36828	D	AEFDBCI	0.099332	0.19998	N	0.0440170834258203	0.43868	2.671406	0.0073801857525671	0.40055	2.384575	0.999986782553491	0.51787	0.489673	0.17934	0	0.587265	0.34161	0	0.759307	0.98198	0	0.322989	0.05693	1	.	.	3.84	2.94	0.33188	2.548000	0.45455	5.823000	0.50099	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.073000	0.16832	0.1235:0.0:0.8765:0.0	7.763	0.28128	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1103.83	68	chr12	56720277	.	G	C	1103.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.419;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-0.582;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	5	0	1	0
chr12	56773907	56773907	C	G	exonic	HSD17B6	.	nonsynonymous SNV	HSD17B6:NM_003725:exon2:c.C55G:p.R19G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.130998104147	0.0017	0.00179712	0.0005	0.0045	0.0010	0	0	1.528e-05	0	7.45e-05	0.0004463	69	154602	rs146006697	0.0002	0.0001	0.0002	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0006	0	0	0	0.0009	2.611e-05	0.0002	1.165e-05	0.0012	0.0012	0.0011	0.0012	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.001	0.78490	D	0.003	0.76473	D	0.11	0.26188	B	0.057	0.26280	B	0.023652	0.26402	N	0.242522	0.944159	0.37437	D	1.275	0.32135	L	-2.22	0.87038	D	-6.3	0.93060	D	0.659	0.66873	-0.0694	0.80794	T	0.466	0.79367	T	10	0.013084859	0.00279	T	0.130998	0.81320	D	0.417	0.72705	.	.	0.773662088066	0.77158	0.3501620010723229	0.34930	0.560996870616	0.52611	0.287920951843	0.08620	T	0.489214	0.81453	T	-0.282065	0.10450	T	-0.178224	0.56687	T	0.0788094650791245	0.09834	T	0.914708	0.69822	D	0.49241126	0.66646	0.5152543	0.71991	0.49241126	0.66647	0.5152543	0.71992	-12.157	0.85608	D	.	.	0.141	0.47794	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.074940	0.26388	17.10	0.99608736882963433	0.74694	0.73056	0.35741	D	AEFDBI	0.850922	0.76777	D	-0.116670414092591	0.36667	2.122514	-0.00945265506900919	0.39286	2.327071	0.00976210390124004	0.11910	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.08	4.18	0.48473	0.031000	0.13598	-3.689000	0.02604	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.31:0.69:0.0:0.0	12.174	0.53480	161	0.93754	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1396.83	33	chr12	56773907	.	C	G	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.742;DP=322;ExcessHet=0;FS=0.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-2.038;SOR=0.767	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr12	57037948	57037948	G	C	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon18:c.C1882G:p.R628G,MYO1A:NM_001256041:exon19:c.C1882G:p.R628G	.	0	1515	7	0	0	7	0.00230491	.	.	.	175740	not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.820	0.352150848041	0.0015	.	0.0016	0	0.0004	0	0.0008	0.0025	0.0033	0.0008	0.001423	220	154602	rs151187460	0.0011	0.0011	0.0010	0.0012	0.0040	0.0011	0.0011	0.0027	0.0023	8.961e-05	0.0004	0.0253	0	0.0010	0.0040	0.0006	0.0019	0.0010	0.0012	0.0012	0.0012	0.0012	0.0012	0.0011	0.0010	0.0007	0.0006	4.811e-05	0	0.0005	0.0294	0	0.0008	0.0102	0.0008	0.0014	0.0012	0.001	0.78490	D	0.001	0.83351	D	0.822	0.45767	P	0.747	0.55931	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.075	0.97183	H	-3.07	0.92508	D	-6.86	0.93135	D	0.919	0.97535	1.005	0.97266	D	0.894	0.96485	D	10	0.06275889	0.08074	T	0.352151	0.92296	D	0.820	0.94238	.	.	0.968785866751	0.96844	0.8094398816263911	0.80898	0.516495157487	0.49535	0.521145105362	0.41787	T	0.856968	0.96794	D	0.169695	0.71095	D	0.420538	0.92759	D	0.178237352329982	0.19124	T	0.960204	0.84976	D	0.87879914	0.89568	0.7941477	0.87904	0.87879914	0.89569	0.7941477	0.87904	-11.708	0.83400	D	.	.	0.905	0.83772	P	.;.	.;.	4.744086	0.76536	26.5	0.99901694956992149	0.97350	0.97418	0.74624	D	AEFBI	0.862756	0.78112	D	0.786777251917161	0.85272	8.526654	0.705533799339281	0.82798	7.857393	0.999977444310092	0.50053	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	4.049000	0.57110	7.633000	0.62825	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:0.8169:0.183	11.227	0.48118	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	2656.06	36	chr12	57037948	.	G	C	2656.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.93;DP=362;ExcessHet=0.4139;FS=3.141;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.414;SOR=0.92	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1382,0,1406	4	0	2	0
chr12	57196269	57196269	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon55:c.G8884A:p.G2962S	.	0	1520	2	0	0	2	0.000657462	.	.	.	713666	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.582	.	0.0011	0.00399361	0.0007	0.0057	0.0010	0.0002	0	2.275e-05	0	0.0003	0.0005175	80	154602	rs144160982	0.0002	0.0002	0.0002	0.0002	0.0042	0.0001	0.0001	0.0037	0.0034	0.0042	0.0005	0	0	0	0.0007	1.736e-05	0.0005	9.588e-05	0.0012	0.0012	0.0013	0.0011	0.0041	0.0011	0.0010	0.0036	0.0034	0.0041	0	0.0005	0	0.0002	0	0.0034	5.88e-05	0.0005	0	0.28	0.15509	T	0.095	0.39492	T	1.0	0.90584	D	0.995	0.83170	D	0.000509	0.43753	D	0.146929	0.999745	0.48716	D	0.815	0.20815	L	-2.06	0.85875	D	-2.38	0.52451	N	0.859	0.85554	-0.2974	0.75057	T	0.407	0.75685	T	10	0.017533153	0.00375	T	.	.	.	0.582	0.83193	.	.	0.926997294735	0.92624	0.8868459574563721	0.88653	.	.	0.696600019932	0.66653	T	0.423504	0.77423	T	-0.0685219	0.41564	T	0.128926	0.78821	D	0.0615441115594868	0.07409	T	0.89811	0.64401	D	0.1441622	0.33102	0.13951601	0.33285	0.1441622	0.33102	0.13951601	0.33285	-7.554	0.57989	D	.	.	0.323	0.54747	B	.	.	4.743534	0.76522	26.5	0.97906913183171052	0.36787	0.98544	0.83920	D	AEFDBHCI	0.961209	0.98234	D	0.301499954700328	0.56226	3.786942	0.314047395771234	0.56363	3.799673	0.999999420447068	0.74766	0.67177	0.52595	0	0.688826	0.66785	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.02	4.13	0.47661	9.761000	0.98129	11.613000	0.93559	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0824:0.0:0.9176:0.0	12.408	0.54783	351	0.85421	Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.010204	0.004098	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	2090.83	37	chr12	57196269	.	G	A	2090.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=365;ExcessHet=0;FS=1.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.458;SOR=0.834	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr12	57524769	57524769	C	T	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon4:c.C163T:p.L55F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0439329793867	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs752186520	1.368e-05	1.368e-05	4.084e-06	2.338e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0006	5.23e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.013	0.65419	D	0.046	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000187	0.48115	D	0.000000	0.837083	0.35007	D	2.615	0.76484	M	-3.91	0.96047	D	-2.75	0.63554	D	0.601	0.61933	1.011	0.97380	D	0.872	0.95731	D	10	0.42526639	0.57131	T	0.043933	0.61237	D	0.556	0.81717	0.408	0.44230	0.759788883185	0.75760	0.5090569890299664	0.50827	0.0486988471212	0.05321	0.745053112507	0.73717	T	0.214244	0.65154	T	0.0507116	0.58435	T	0.127216	0.78711	D	0.619617104530334	0.37190	D	0.961204	0.85427	D	0.3602998	0.57858	0.33527485	0.59343	0.3602998	0.57859	0.33527485	0.59343	-9.493	0.70815	D	.	.	0.739	0.85307	P	.;.;.;.	.;.;.;.	4.428600	0.68660	25.3	0.9942732710190445	0.64081	0.80996	0.40496	D	AEFDBCI	0.372985	0.45842	N	0.548916684733052	0.70015	5.440036	0.531969087577336	0.70153	5.463463	0.999999671370569	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.56	4.56	0.55644	3.650000	0.54164	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8311:0.1689:0.0	12.497	0.55274	411	0.82069	Methyl-CpG DNA binding|Methyl-CpG DNA binding;Methyl-CpG DNA binding;Methyl-CpG DNA binding|Methyl-CpG DNA binding;Methyl-CpG DNA binding|Methyl-CpG DNA binding	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2566.83	159	chr12	57524769	.	C	T	2566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=341;ExcessHet=0;FS=3.76;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.11;SOR=0.909	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1371	5	0	1	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	458.83	37	chr12	57526581	.	C	G	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.16;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.558;SOR=0.862	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1161	5	0	1	0
chr12	57546597	57546597	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001348065:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954982075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	551.83	35	chr12	57546597	.	C	T	551.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.724;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	5	0	1	0
chr12	57601013	57601013	A	T	exonic	PIP4K2C	.	nonsynonymous SNV	PIP4K2C:NM_001146260:exon7:c.A872T:p.H291L,PIP4K2C:NM_001146258:exon8:c.A1016T:p.H339L,PIP4K2C:NM_001146259:exon8:c.A962T:p.H321L,PIP4K2C:NM_024779:exon8:c.A1016T:p.H339L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0085633161104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276050714	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.04832	T	0.664	0.06511	T	0.0	0.02946	B	0.006	0.12133	B	0.008882	0.30616	N	0.370948	0.639289	0.32861	D	0.18	0.09070	N	1.73	0.26445	T	-1.32	0.32991	N	0.182	0.19728	-1.0472	0.15188	T	0.040	0.17191	T	10	0.07540253	0.11648	T	0.008563	0.22631	T	0.127	0.34888	0.503	0.59615	0.235664433957	0.23186	0.6525420379417889	0.65190	0.505556540671	0.48791	0.603750824928	0.53433	T	0.034329	0.23278	T	-0.146724	0.28825	T	-0.448536	0.27859	T	0.468894094228745	0.31490	T	0.791221	0.43226	T	0.13858318	0.32045	0.06265997	0.12295	0.13858318	0.32044	0.06265997	0.12294	-2.874	0.08886	T	.	.	0.120	0.30264	B	.;.;.;.	.;.;.;.	2.328049	0.29821	18.24	0.92673601016730567	0.22157	0.15608	0.18995	N	AEFBI	0.174005	0.30111	N	-0.561688581431752	0.20118	1.058247	-0.422117857681877	0.24350	1.332882	0.992178330901489	0.32745	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.38	4.38	0.52019	1.149000	0.31238	11.240000	0.90396	0.691000	0.84096	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.992	0.58031	309	0.87553	.;Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.;Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	754.83	33	chr12	57601013	.	A	T	754.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.07;DP=247;ExcessHet=0;FS=3.308;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.997;SOR=0.365	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	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	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.08333	1843.83	143	chr12	57765390	.	C	G	1843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.015;DP=323;ExcessHet=0;FS=5.141;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.42;SOR=1.108	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1343	5	0	1	0
chr12	64610741	64610741	C	G	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon1:c.C109G:p.Q37E	.	417	1104	1	0	0	1	0.000452694	0.0011	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.203957473543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	2.736e-06	2.79e-06	0	1.827e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.827e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.711	0.04032	T	0.982	0.02411	T	0.0	0.02946	B	0.0	0.01387	B	0.048851	0.23215	U	0.336252	0.999763	0.20447	N	1.7	0.43825	L	2.62	0.12988	T	-0.48	0.15379	N	0.097	0.07811	-0.9723	0.36712	T	0.017	0.06902	T	9	0.06882772	0.09789	T	0.203957	0.86904	D	0.056	0.15993	0.108	0.01928	0.354610295913	0.35065	0.11834948202870363	0.11761	0.075458207482	0.08464	0.640428304672	0.58625	T	0.005863	0.05306	T	-0.306086	0.08097	T	-0.677448	0.07140	T	0.043014246150695	0.04240	T	0.465053	0.13602	T	0.07484979	0.16824	0.057150505	0.10338	0.07484979	0.16824	0.057150505	0.10338	-2.679	0.07128	T	.	.	0.059	0.00934	B	.;.	.;.	2.413964	0.31030	18.62	0.88708064623533089	0.18191	0.22314	0.21704	N	AEFDBHCIJ	0.241243	0.36289	N	-0.521895052119711	0.21374	1.133789	-0.411310794611088	0.24664	1.351953	0.999999999927345	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	2.49	2.49	0.29274	1.188000	0.31711	5.589000	0.48992	0.447000	0.21209	0.563000	0.27449	1.000000	0.68203	0.656000	0.32857	0.0:0.8747:0.0:0.1253	8.383	0.31644	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	481.83	33	chr12	64610741	.	C	G	481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.145;DP=188;ExcessHet=0;FS=5.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.159;SOR=0.193	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,1350	5	0	1	0
chr12	64716766	64716766	C	T	exonic	GNS	.	nonsynonymous SNV	GNS:NM_002076:exon14:c.G1634A:p.R545Q	Mucopolysaccharidosis type IIID, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1189345	Mucopolysaccharidosis,_MPS-III-D	MONDO:MONDO:0009658,MedGen:C0086650,OMIM:252940,Orphanet:581,Orphanet:79272	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0823719354707	.	.	2.483e-05	0	8.7e-05	0	0	1.503e-05	0	6.125e-05	1.94e-05	3	154602	rs756752200	1.095e-05	1.094e-05	5.451e-06	1.651e-05	2.319e-05	6.49e-06	5.25e-06	5.31e-06	3.88e-06	0	2.236e-05	3.826e-05	0	0	0	9.902e-06	1.657e-05	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.013	0.59928	D	0.029	0.56640	D	0.052	0.64070	B	0.003	0.51382	B	0.001673	0.38326	N	0.241485	0.99711	0.43640	D	1.95	0.52479	M	-0.03	0.63077	T	-0.21	0.10308	N	0.418	0.50958	-0.7200	0.59463	T	0.233	0.59904	T	9	0.28939104	0.46520	T	0.082372	0.73886	D	0.077	0.22490	0.345	0.33950	0.657716601585	0.65485	0.448411969750105	0.44759	0.591894902042	0.54610	0.415419578552	0.27205	T	0.225997	0.60157	T	-0.210331	0.19332	T	-0.364056	0.37583	T	0.246123045682907	0.22698	T	0.955004	0.82846	D	0.04061089	0.05830	0.043665066	0.05483	0.04061089	0.05830	0.043665066	0.05483	-5.442	0.41321	T	.	.	0.095	0.15341	B	.;.;.;.	.;.;.;.	3.319350	0.45644	22.2	0.99869907408041314	0.94726	0.97380	0.74382	D	AEFBI	0.562570	0.57011	D	-0.261450909323177	0.30648	1.710926	-0.155628104829416	0.33192	1.896161	0.999998925849401	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	4.71	0.59010	3.772000	0.55034	2.752000	0.34542	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.9265:0.0:0.0735	13.312	0.59825	698	0.58074	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1128.83	34	chr12	64716766	.	C	T	1128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.214;DP=249;ExcessHet=0;FS=4.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.55;SOR=0.29	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	5	0	1	0
chr12	68295258	68295258	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon13:c.C1301T:p.T434I,MDM1:NM_001205028:exon14:c.C2036T:p.T679I,MDM1:NM_001354970:exon14:c.C2021T:p.T674I,MDM1:NM_001368282:exon14:c.C1331T:p.T444I,MDM1:NM_017440:exon14:c.C2141T:p.T714I,MDM1:NM_001354969:exon15:c.C2171T:p.T724I,MDM1:NM_001354972:exon15:c.C1331T:p.T444I,MDM1:NM_001354973:exon15:c.C1331T:p.T444I,MDM1:NM_001354971:exon16:c.C1331T:p.T444I	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0100387181515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	0	2.759e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.012704	0.29081	N	0.376025	0.992209	0.23919	N	2.39	0.68882	M	1.98	0.21865	T	-2.64	0.62343	D	0.234	0.30914	-1.0484	0.14846	T	0.061	0.25635	T	9	0.1809578	0.33305	T	0.010039	0.26102	T	0.107	0.30369	0.355	0.35571	0.130388298395	0.12655	0.04269941965831144	0.04214	0.25274736614	0.27838	0.56364941597	0.47782	T	0.449467	0.79095	T	-0.113322	0.34219	T	-0.400556	0.33319	T	0.857456088066101	0.50821	D	0.878312	0.68959	D	0.09045821	0.21167	0.13050756	0.31357	0.09045821	0.21167	0.13050756	0.31356	-6.118	0.47256	T	.	.	0.361	0.64699	A	.;.;.	.;.;.	3.236178	0.44156	21.9	0.99763498255875727	0.85254	0.42017	0.26785	N	AEFBI	0.081200	0.16429	N	-0.117553780362421	0.36629	2.119778	-0.15182416263869	0.33339	1.905995	0.952013273101996	0.27990	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.57	3.44	0.38486	0.758000	0.26113	4.183000	0.42351	0.676000	0.76740	0.318000	0.25485	1.000000	0.68203	0.035000	0.13729	0.0877:0.1315:0.4841:0.2966	3.285	0.06520	931	0.16308	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	547.83	46	chr12	68295258	.	G	A	547.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.258;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-2.869;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr12	69574374	69574374	-	GTGCCC	exonic	FRS2	.	nonframeshift insertion	FRS2:NM_001278357:exon7:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278356:exon9:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001042555:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278354:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278355:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_006654:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278351:exon11:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278353:exon11:c.946_947insGTGCCC:p.A317_S318insRA	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0010	0.0001	0.0002	0	0	7.499e-05	0	0.0070	0.0003074	8	26028	rs562159290	0.0004	0.0004	0.0002	0.0005	0.0057	0.0004	0.0003	0.0052	0.0051	0	6.708e-05	0	0	0	0.0007	4.141e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0002	0.0001	0.0046	0.0040	0	0	6.533e-05	0	0	0	0.0034	1.47e-05	0.0005	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1749.79	38	chr12	69574374	.	A	AGTGCCC	1749.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=295;ExcessHet=0;FS=1.764;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.59;ReadPosRankSum=-1.076;SOR=0.835	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1333.71	38	chr12	70329450	.	T	C	1333.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=0.098;DP=364;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=0.274;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:52,0:52:0:.:.:0,0,1151:.	0	0	2	4
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1330.99	38	chr12	70329451	.	G	A	1330.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.725;DP=379;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.501;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:52,0:52:0:.:.:0,0,1151:.	1	0	2	3
chr12	70559409	70559409	C	T	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon15:c.G3724A:p.V1242I,PTPRB:NM_001206972:exon15:c.G3724A:p.V1242I,PTPRB:NM_002837:exon16:c.G3994A:p.V1332I,PTPRB:NM_001330204:exon17:c.G4384A:p.V1462I,PTPRB:NM_001109754:exon18:c.G4648A:p.V1550I	.	425	1075	21	1	0	23	0.0105844	.	.	.	2807183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.203	.	0.0038	0.00219649	0.0062	0.0012	0.0015	0	0.0243	0.0071	0.0056	0.0050	0.0055109	852	154602	rs111874833	0.0051	0.0051	0.0050	0.0052	0.0094	0.0050	0.0050	0.0074	0.0067	0.0007	0.0017	0.0098	2.519e-05	0.0230	0.0094	0.0046	0.0050	0.0052	0.0050	0.0050	0.0045	0.0056	0.0057	0.0047	0.0046	0.0053	0.0051	0.0007	0	0.0014	0.0081	0	0.0246	0.0170	0.0057	0.0024	0.0048	0.062	0.40068	T	0.157	0.37872	T	0.707	0.50183	P	0.112	0.44733	B	0.001299	0.39521	N	0.254645	0.996816	0.43435	D	0.55	0.14455	N	-0.51	0.70597	T	-0.23	0.10656	N	0.25	0.30687	-0.6969	0.60586	T	0.200	0.55555	T	10	0.005764514	0.00128	T	.	.	.	0.203	0.48915	.	.	0.41668977595	0.41282	0.26343596453826423	0.26256	0.376943265335	0.39130	0.329503953457	0.14859	T	0.057935	0.40396	T	-0.420111	0.01707	T	-0.371812	0.36677	T	0.00748326527203168	0.00086	T	0.855914	0.54393	D	0.026782483	0.01780	0.03632397	0.03057	0.026782483	0.01780	0.03632397	0.03056	-3.87	0.22377	T	.	.	0.071	0.12371	B	.;.;.;.;.;.	.;.;.;.;.;.	2.596813	0.33695	19.42	0.99102631284045284	0.52521	0.85628	0.44781	D	AEFBI	0.408135	0.47993	N	-0.122034637442761	0.36435	2.105933	-0.0720167279260983	0.36552	2.128649	0.732845549914881	0.23079	0.719381	0.83141	0	0.573888	0.26702	0	0.547309	0.15389	0	0.733575	0.97253	0	.	.	5.84	3.93	0.44666	1.577000	0.36124	4.038000	0.41399	-0.182000	0.10109	0.970000	0.34288	0.999000	0.35428	0.790000	0.37311	0.0:0.7328:0.1287:0.1385	8.458	0.32074	734	0.53889	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.008152	0.000000	0.000000	0.025862	0.009146	0.018939	0.08333	1504.83	36	chr12	70559409	.	C	T	1504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.267;DP=283;ExcessHet=0;FS=2.473;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.385;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	5	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	86.67	74	chr12	70635944	.	G	A	86.67	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.231;DP=331;ExcessHet=0;FS=104.756;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=-0.352;SOR=7.541	GT:AD:DP:GQ:PL	./.:40,0:40:0:0,0,765	3	0	1	2
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.08333	1129.83	34	chr12	71577986	.	C	G	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.121;DP=263;ExcessHet=0;FS=1.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=1.87;SOR=0.466	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	5	0	1	0
chr12	71584429	71584429	G	C	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon17:c.G2347C:p.V783L,LGR5:NM_001277227:exon17:c.G2203C:p.V735L,LGR5:NM_003667:exon18:c.G2419C:p.V807L	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00691056198974	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1197841979	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.973e-05	1.971e-05	1.286e-05	2.694e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.229	0.18956	T	0.406	0.14961	T	0.018	0.17786	B	0.028	0.21332	B	0.004786	0.33389	N	0.207336	0.939625	0.37267	D	0.955	0.23872	L	-0.56	0.71187	T	-0.88	0.25118	N	0.223	0.30347	-0.8205	0.53902	T	0.204	0.56155	T	10	0.22058952	0.38760	T	0.006911	0.18289	T	0.045	0.12272	0.456	0.52102	0.874189278319	0.87295	0.5358408385700676	0.53509	0.0571578602382	0.06324	0.463468670845	0.33785	T	0.093357	0.39194	T	-0.109036	0.34928	T	-0.394399	0.34036	T	0.569681823253632	0.35222	D	0.889511	0.72788	D	0.12282577	0.28855	0.1372447	0.32810	0.12282577	0.28855	0.1372447	0.32809	-6.622	0.52959	T	.	.	0.180	0.42022	B	.;.;.	.;.;.	2.577022	0.33407	19.33	0.98549142193313599	0.42820	0.81674	0.41031	D	AEFBHCI	.	.	.	-0.170340255596332	0.34374	1.961174	0.0389806947868419	0.41542	2.497545	0.929367184938469	0.26965	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.06	5.16	0.70563	3.572000	0.53593	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7289:0.2711	14.247	0.65540	880	0.29376	GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1801.83	35	chr12	71584429	.	G	C	1801.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.176;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.006;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	5	0	1	0
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1043.83	112	chr12	71699085	.	T	G	1043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.999;DP=287;ExcessHet=0;FS=3.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.365;SOR=0.416	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	5	0	1	0
chr12	75293261	75293261	A	G	exonic	CAPS2	.	nonsynonymous SNV	CAPS2:NM_001355026:exon8:c.T797C:p.L266S,CAPS2:NM_001355030:exon9:c.T512C:p.L171S,CAPS2:NM_001355031:exon10:c.T512C:p.L171S,CAPS2:NM_001355033:exon10:c.T512C:p.L171S,CAPS2:NM_001286547:exon11:c.T962C:p.L321S,CAPS2:NM_001355032:exon11:c.T512C:p.L171S,CAPS2:NM_001355024:exon12:c.T1058C:p.L353S,CAPS2:NM_001355027:exon12:c.T950C:p.L317S,CAPS2:NM_001286548:exon13:c.T512C:p.L171S,CAPS2:NM_001355023:exon13:c.T1076C:p.L359S,CAPS2:NM_001355025:exon13:c.T950C:p.L317S,CAPS2:NM_032606:exon13:c.T1208C:p.L403S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00781534306865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.40068	T	0.105	0.38450	T	0.014	0.20002	B	0.008	0.18140	B	0.043572	0.23726	N	0.320832	1	0.81001	D	1.465	0.36909	L	1.96	0.22270	T	-0.74	0.21003	N	0.353	0.39457	-1.0916	0.05270	T	0.039	0.16806	T	10	0.15068394	0.28495	T	0.007815	0.20720	T	0.081	0.23632	0.638	0.77470	0.393006254552	0.38910	0.5002233799500293	0.49943	0.101150159241	0.11438	0.307729125023	0.11564	T	0.073626	0.34744	T	-0.141589	0.29637	T	-0.441159	0.28677	T	0.126364710380478	0.15042	T	0.518148	0.16784	T	0.06493272	0.13827	0.08368607	0.19197	0.06493272	0.13827	0.08368607	0.19197	-3.3	0.43845	T	.	.	0.193	0.41310	B	.;.;.	.;.;.	1.840350	0.23383	16.00	0.97587334834492867	0.34769	0.82599	0.41804	D	AEFI	0.425161	0.49004	N	-0.403868700368459	0.25334	1.374424	-0.309730289310234	0.27784	1.544159	8.6000240531324E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.6	3.45	0.38602	1.402000	0.34209	6.043000	0.53031	0.677000	0.82338	0.889000	0.31176	1.000000	0.68203	0.269000	0.23743	0.7709:0.1491:0.0799:0.0	6.982	0.23885	880	0.29376	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	867.83	34	chr12	75293261	.	A	G	867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.444;DP=247;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	5	0	1	0
chr12	75423012	75423012	-	A	exonic	GLIPR1L2	.	frameshift insertion	GLIPR1L2:NM_152436:exon4:c.694dupA:p.M234Nfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs769479789	4.805e-06	1.71e-05	4.097e-06	5.52e-06	6.019e-05	2e-06	1.29e-06	9.97e-06	3.73e-06	6.019e-05	0	3.842e-05	0	0	0	9.013e-07	3.322e-05	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	908.79	38	chr12	75423012	.	G	GA	908.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.717;DP=255;ExcessHet=0;FS=0.848;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.421;SOR=0.593	GT:AD:DP:GQ:PL	0/1:37,39:76:99:919,0,904	5	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.1667	1816.06	36	chr12	79621147	.	T	C	1816.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.265;DP=321;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.062;SOR=0.679	GT:AD:DP:GQ:PL	0/1:38,30:68:99:666,0,955	4	0	2	0
chr12	80377139	80377139	A	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon58:c.A6771T:p.R2257S,OTOGL:NM_173591:exon58:c.A6771T:p.R2257S,OTOGL:NM_001378610:exon61:c.A6771T:p.R2257S,OTOGL:NM_001368062:exon62:c.A6636T:p.R2212S	Deafness, autosomal recessive 84B, Autosomal recessive	22	1497	3	0	0	3	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0143797368158	.	.	8.337e-06	0	0	0	0	0	0	6.154e-05	6.5e-06	1	154602	rs775109108	8.245e-06	8.209e-06	8.202e-06	8.288e-06	0.0002	4.4e-06	3.47e-06	2.217e-05	1.446e-05	0	0	0	0	0	0.0002	4.511e-06	1.664e-05	5.875e-05	6.575e-06	6.566e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000104	0.50451	D	0.123853	0.744794	0.33862	D	.	.	.	2.44	0.15145	T	-4.27	0.76254	D	0.604	0.62188	-1.0501	0.14369	T	0.043	0.18326	T	10	0.2658444	0.44084	T	0.01438	0.34458	T	0.099	0.28413	.	.	0.0846915920261	0.08053	0.4830935075549134	0.48229	0.167897587978	0.18931	0.435053765774	0.29901	T	.	.	.	-0.266945	0.12099	T	-0.416674	0.31457	T	0.85589462518692	0.50681	D	0.835616	0.50622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746	0.77579	P	.;.;.	.;.;.	3.771576	0.54171	23.5	0.99587440405562422	0.73395	0.95616	0.65436	D	AEFBIJ	0.521469	0.54589	D	-0.157422090659677	0.34921	1.999	-0.123766265139654	0.34435	1.980703	1.68914747530022E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.32	0.432	0.15742	1.295000	0.32983	2.289000	0.31947	0.691000	0.84096	0.998000	0.41325	0.995000	0.32472	0.993000	0.69303	0.6261:0.0:0.3739:0.0	9.634	0.38960	778	0.48011	Cystine knot, C-terminal;.;Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	205.83	24	chr12	80377139	.	A	T	205.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.121;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=0.618;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1018	5	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.08333	1734.83	35	chr12	82896304	.	G	A	1734.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=313;ExcessHet=0;FS=0.628;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.113;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	5	0	1	0
chr12	85027922	85027922	C	T	exonic	TSPAN19	.	nonsynonymous SNV	TSPAN19:NM_001100917:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0649512470713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191865318	8.391e-06	1.094e-05	9.705e-06	7.054e-06	0.0001	4.48e-06	3.53e-06	3.501e-05	2.117e-05	3.068e-05	0.0001	3.928e-05	2.578e-05	0	0	2.735e-06	1.688e-05	1.237e-05	2.63e-05	2.627e-05	5.141e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.03	0.45393	D	0.193	0.28669	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.265	0.64440	M	-1.46	0.80983	T	-3.68	0.70314	D	0.327	0.36779	-0.8159	0.54189	T	0.289	0.66104	T	9	0.3865534	0.54583	T	0.064951	0.69433	D	0.208	0.49714	0.772	0.89846	0.0666544352282	0.05500	0.3709435937602121	0.37008	0.0138822183601	0.01324	0.30561208725	0.11244	T	0.332344	0.70232	T	-0.0986282	0.36653	T	-0.379449	0.35787	T	0.0739902442990522	0.09201	T	0.578142	0.20837	T	0.14972763	0.34121	0.14735267	0.34874	0.14972763	0.34121	0.14735267	0.34873	-4.801	0.34603	T	.	.	0.174	0.38099	B	.;.	.;.	1.340411	0.17468	13.18	0.82526502845506489	0.14238	0.01874	0.05772	N	AEFBI	0.041113	0.06207	N	-1.35854494510219	0.03037	0.1350582	-1.41155050362419	0.03136	0.1456902	0.0269019477866073	0.13741	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	-1.66	0.07824	0.262000	0.18229	1.248000	0.25151	-0.991000	0.01849	0.166000	0.23880	0.820000	0.27118	0.024000	0.12247	0.0:0.7083:0.1457:0.146	6.565	0.21705	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	855.83	40	chr12	85027922	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.128;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.064;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	5	0	1	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	386	1115	18	3	0	24	0.0106477	.	.	.	177274	Intellectual_disability|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|not_specified|Leber_congenital_amaurosis|not_provided|Joubert_syndrome_5|Meckel_syndrome,_type_4|Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	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	0.015152	0.000000	0.009511	0.005882	0.050000	0.000000	0.036810	0.022727	0.08333	991.83	22	chr12	88060951	.	A	G	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.979;DP=259;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.347;SOR=0.527	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr12	89471617	89471617	G	C	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon5:c.C547G:p.Q183E,POC1B:NM_172240:exon6:c.C673G:p.Q225E	Cone-rod dystrophy 20, Autosomal recessive	435	1079	8	0	0	8	0.00369344	.	.	.	822090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0142541269415	0.0004	0.000199681	0.0004	0	0	0.0001	0	0.0005	0.0022	0.0007	0.0003622	56	154602	rs145981936	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	9.107e-05	0.0004	0.0029	2.53e-05	0	0.0049	9.244e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.816e-05	0	0.0008	0.0020	0	0	0.0068	0.0002	0.0009	0.0006	0.01	0.56456	D	0.049	0.48336	D	0.334	0.33305	B	0.197	0.36707	B	0.000014	0.62929	D	0.155036	1	0.81001	D	0.735	0.18861	N	0.28	0.59037	T	-1.83	0.45949	N	0.25	0.31253	-0.9948	0.31352	T	0.113	0.40307	T	10	0.02311951	0.00596	T	0.014254	0.34240	T	0.086	0.25016	.	.	0.586756053714	0.58349	0.15780116846125739	0.15701	0.191270352614	0.21451	.	.	.	0.069725	0.33781	T	-0.262084	0.12658	T	-0.277982	0.47011	T	0.0364510650855852	0.03060	T	0.90231	0.77758	D	0.22675624	0.45363	0.3116786	0.57173	0.24818182	0.47803	0.26886395	0.52759	-7.163	0.55215	T	0.2510777077888485	0.33979	0.115	0.22861	B	.;.;.	.;.;.	3.665034	0.52089	23.2	0.97386164742167591	0.33696	0.99130	0.91667	D	AEFBI	0.719247	0.67019	D	0.0399781027656686	0.43683	2.656442	0.262079053021299	0.53339	3.503387	0.999995378323134	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	5.040000	0.63987	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8588:0.1412	16.150	0.81423	859	0.33891	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	1	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.005848	0.050000	0.008621	0.006098	0.003788	0.08333	436.83	34	chr12	89471617	.	G	C	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.984;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=0.845;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr12	89525926	89525926	G	A	exonic	POC1B-GALNT4	.	nonsynonymous SNV	POC1B-GALNT4:NM_001199782:exon1:c.C230T:p.P77L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0036	0.00259585	0.0103	0.0020	0.0153	0	0.0098	0.0168	0	0.0053	0.0021216	328	154602	rs200496430	0.0044	0.0043	0.0044	0.0043	0.0051	0.0043	0.0042	0.0050	0.0050	0.0008	0.0032	0.0009	0	0.0009	0.0015	0.0051	0.0039	0.0017	0.0030	0.0030	0.0033	0.0026	0.0045	0.0027	0.0027	0.0041	0.0040	0.0008	0.0121	0.0044	0.0017	0	0.0006	0.0068	0.0045	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.003751	0.029070	0.002778	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1454.83	78	chr12	89525926	.	G	A	1454.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.588;DP=277;ExcessHet=0;FS=4.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=1.38;SOR=0.456	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr12	95263020	95263020	T	C	exonic	VEZT	.	nonsynonymous SNV	VEZT:NM_001352090:exon3:c.T283C:p.S95P,VEZT:NM_001352089:exon4:c.T373C:p.S125P,VEZT:NM_001352091:exon4:c.T280C:p.S94P,VEZT:NM_001352097:exon4:c.T139C:p.S47P,VEZT:NM_001352098:exon4:c.T373C:p.S125P,VEZT:NM_001352108:exon4:c.T373C:p.S125P,VEZT:NM_001352109:exon4:c.T373C:p.S125P,VEZT:NM_001352110:exon4:c.T373C:p.S125P,VEZT:NM_001352111:exon4:c.T373C:p.S125P,VEZT:NM_001352112:exon4:c.T280C:p.S94P,VEZT:NM_017599:exon4:c.T373C:p.S125P,VEZT:NM_001352088:exon5:c.T430C:p.S144P,VEZT:NM_001352092:exon5:c.T229C:p.S77P,VEZT:NM_001352093:exon5:c.T229C:p.S77P,VEZT:NM_001352096:exon5:c.T229C:p.S77P,VEZT:NM_001352100:exon5:c.T430C:p.S144P,VEZT:NM_001352113:exon5:c.T229C:p.S77P,VEZT:NM_001352094:exon6:c.T229C:p.S77P,VEZT:NM_001352095:exon6:c.T229C:p.S77P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00395812368713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.769	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.008756	0.30686	N	0.381310	0.999998	0.08975	N	-0.975	0.01213	N	2.49	0.48142	T	-0.25	0.11185	N	0.071	0.04426	-1.0234	0.22606	T	0.028	0.11971	T	10	0.012732089	0.00272	T	0.003958	0.09368	T	0.024	0.04979	0.217	0.13788	0.340032825777	0.33618	0.35849927452813346	0.35763	0.0721623688548	0.08090	0.30971968174	0.11865	T	0.024671	0.18594	T	-0.247288	0.14434	T	-0.592988	0.13408	T	0.118479184806347	0.14281	T	0.553645	0.20837	T	0.04675905	0.07881	0.069307156	0.14584	0.04675905	0.07881	0.069307156	0.14584	-3.62	0.18147	T	.	.	0.050	0.00505	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.874435	0.12472	9.006	0.65367840648272224	0.07752	0.03874	0.09239	N	ALL	0.080508	0.16278	N	-1.49391941609904	0.01893	0.08304394	-1.3532976257953	0.03767	0.1764018	0.999999958823441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.74	1.6	0.22686	0.015000	0.13250	0.060000	0.14119	-0.954000	0.02017	0.004000	0.16614	0.001000	0.17328	0.802000	0.37819	0.3693:0.3622:0.1204:0.1482	2.200	0.03682	850	0.35610	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	409.83	35	chr12	95263020	.	T	C	409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.082;DP=208;ExcessHet=0;FS=1.271;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.839;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,925	5	0	1	0
chr12	95881493	95881493	C	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon11:c.G982A:p.V328I	.	.	.	.	.	.	.	.	.	.	.	2333833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00449349024645	7.7e-05	.	7.435e-05	9.653e-05	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs118134418	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	3.006e-05	0.0001	0	5.098e-05	0	0.0002	0.0004	0.0001	2.348e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	9.661e-05	0	6.553e-05	0	0	0	0	0.0003	0	0	0.39	0.10838	T	0.222	0.25748	T	0.001	0.07471	B	0.0	0.01387	B	0.281371	0.03836	N	1.435820	1	0.08975	N	-0.345	0.03330	N	1.6	0.28604	T	0.05	0.06369	N	0.088	0.06587	-1.0430	0.16413	T	0.031	0.13155	T	10	0.022523642	0.00565	T	0.004493	0.11031	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.062409515696679525	0.06180	0.0468924385657	0.05106	0.350637644529	0.18015	T	7.31E-4	0.00340	T	-0.597745	0.00150	T	-0.794675	0.02039	T	0.0127547685888243	0.00216	T	0.155284	0.01352	T	0.023115678	0.01025	0.025249919	0.00564	0.023115678	0.01025	0.025249919	0.00563	-1.021	0.01023	T	.	.	0.074	0.05274	B	.	.	0.413753	0.07843	4.542	0.79762706950628215	0.12889	0.01461	0.04883	N	AEFDBIJ	0.024338	0.01490	N	-1.54345926993087	0.01573	0.06873234	-1.4933249293723	0.02398	0.1102437	0.998325092595549	0.36758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.15	0.025	0.13464	0.704000	0.25336	2.003000	0.30130	-0.665000	0.04339	0.027000	0.20232	0.003000	0.18671	0.036000	0.13842	0.4595:0.3098:0.0828:0.1479	2.301	0.03908	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	757.83	66	chr12	95881493	.	C	T	757.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.008;DP=242;ExcessHet=0;FS=3.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.566;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	5	0	1	0
chr12	96247541	96247541	C	A	exonic	ELK3	.	nonsynonymous SNV	ELK3:NM_005230:exon3:c.C809A:p.S270Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0232136023906	0.0004	0.000399361	0.0002	0.0023	8.643e-05	0	0	0	0	0	0.0001811	28	154602	rs151152137	7.251e-05	7.251e-05	7.487e-05	7.013e-05	0.0025	6.114e-05	5.699e-05	0.0020	0.0019	0.0025	8.944e-05	0	0	0	0	4.496e-06	0.0002	3.478e-05	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.012	0.54683	D	0.003	0.76473	D	0.875	0.48103	P	0.459	0.46380	P	0.043652	0.23718	N	0.517384	0.999979	0.81001	D	2.125	0.59049	M	1.39	0.33842	T	-2.14	0.48523	N	0.475	0.51048	-0.8911	0.48837	T	0.145	0.46841	T	10	0.019119024	0.00423	T	0.023214	0.46168	T	0.176	0.44373	.	.	0.679700534886	0.67698	0.6224216733167451	0.62175	0.883532630108	0.69863	0.591328561306	0.51682	T	0.410844	0.76546	T	-0.362495	0.03991	T	-0.299024	0.44828	T	0.0587276275626827	0.06967	T	0.89841	0.64469	D	0.14471139	0.33204	0.21818973	0.46512	0.14471139	0.33203	0.21818973	0.46511	-8.017	0.61186	D	.	.	0.114	0.22789	B	.	.	4.318997	0.66083	24.9	0.99330201723001665	0.59738	0.97184	0.73184	D	AEFBHCI	0.497986	0.53228	N	0.603042310914632	0.73367	5.954507	0.658473228106128	0.79241	7.041451	0.999999998447409	0.74766	0.722319	0.85440	0	0.379588	0.06130	0	0.67347	0.61138	0	0.735409	0.98432	0	.	.	5.93	5.93	0.95888	2.771000	0.47354	4.846000	0.45329	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.344	0.98783	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2068.83	35	chr12	96247541	.	C	A	2068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.224;DP=364;ExcessHet=0;FS=6.464;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.477;SOR=1.174	GT:AD:DP:GQ:PL	0/1:104,85:189:99:2079,0,2530	5	0	1	0
chr12	100391041	100391041	T	C	exonic	SLC17A8	.	nonsynonymous SNV	SLC17A8:NM_001145288:exon3:c.T395C:p.I132T,SLC17A8:NM_139319:exon3:c.T395C:p.I132T	Deafness, autosomal dominant 25, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.0596585814101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.984	0.60733	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.16	0.88528	M	0.25	0.59449	T	-4.19	0.75615	D	0.94	0.94668	0.134	0.84783	D	0.463	0.79207	T	10	0.879972	0.87304	D	0.059659	0.67740	D	0.719	0.90056	0.629	0.76478	0.665091151413	0.66227	0.8875927744263518	0.88728	0.630137594049	0.57018	0.850524187088	0.89694	D	0.705884	0.91571	D	0.330516	0.85200	D	0.236987	0.85005	D	0.998194634914398	0.93480	D	0.990776	0.97178	D	0.7773718	0.82492	0.71964496	0.83448	0.7773718	0.82494	0.71964496	0.83449	-11.607	0.82884	D	0.4496707409131112	0.53370	0.979	0.94573	P	.;.	.;.	4.969671	0.82239	27.7	0.99855844564950735	0.93458	0.99464	0.96353	D	AEFI	0.896682	0.83801	D	0.867550611298972	0.90083	10.24578	0.803594506541489	0.90043	10.23091	0.999893006223778	0.45129	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	7.627000	0.82366	7.906000	0.73790	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.457	0.75046	633	0.64743	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1380.83	106	chr12	100391041	.	T	C	1380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.829;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.967;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	5	0	1	0
chr12	101345664	101345664	G	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon37:c.G4716A:p.M1572I	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0021	0.00459265	0.0074	0.0007	0.0579	0	0.0039	0.0023	0.0100	0.0020	0.0067852	1049	154602	rs144785642	0.0038	0.0039	0.0041	0.0035	0.0458	0.0037	0.0037	0.0441	0.0434	0.0008	0.0458	0	2.525e-05	0.0044	0.0012	0.0027	0.0034	0.0016	0.0038	0.0038	0.0036	0.0040	0.0198	0.0035	0.0034	0.0179	0.0172	0.0009	0	0.0198	0	0.0004	0.0037	0	0.0027	0.0028	0.0015	0.203	0.20154	T	0.182	0.29249	T	0.731	0.42679	P	0.116	0.31939	B	0.000000	0.84330	D	0.087062	0.986594	0.40456	D	1.85	0.49092	L	2.32	0.16640	T	-0.62	0.18248	N	0.402	0.44283	-1.1120	0.02903	T	0.009	0.03403	T	10	0.0067596436	0.00153	T	.	.	.	0.101	0.28911	0.429	0.47680	0.313210971179	0.30940	0.27399943588334424	0.27312	0.197629072986	0.22136	0.378657341003	0.22066	T	0.009386	0.08551	T	-0.48284	0.00712	T	-0.429099	0.30037	T	0.0115471454193722	0.00174	T	0.913409	0.69158	D	0.2553387	0.48567	0.18284982	0.41237	0.2553387	0.48567	0.18284982	0.41236	-2.12	0.03671	T	.	.	0.568	0.67568	P	.	.	2.830195	0.37313	20.5	0.9827852508492223	0.39833	0.94658	0.61888	D	AEFGBI	0.274215	0.38945	N	0.164363330676233	0.49494	3.149155	0.270862674998777	0.53846	3.551589	0.724505652118829	0.22971	0.732398	0.92422	0	0.71359	0.82159	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.06	5.17	0.70848	1.935000	0.39802	7.440000	0.58865	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0671:0.0:0.9329:0.0	15.237	0.73134	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.08333	785.83	35	chr12	101345664	.	G	A	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=262;ExcessHet=0;FS=1.756;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.956;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	5	0	1	0
chr12	101386059	101386059	G	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon62:c.G8294A:p.R2765H	.	441	1078	3	0	0	3	0.00138953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0287708176891	0.0035	0.00119808	0.0031	0.0018	0.0006	0	0.0027	0.0045	0.0022	0.0022	0.0030401	470	154602	rs118052100	0.0041	0.0041	0.0041	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0008	0.0017	3.845e-05	7.562e-05	0.0032	0.0005	0.0048	0.0030	0.0022	0.0033	0.0032	0.0035	0.0030	0.0047	0.0030	0.0029	0.0043	0.0041	0.0011	0.0570	0.0020	0	0	0.0026	0.0034	0.0047	0.0028	0.0023	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.075	0.57047	M	2.09	0.20122	T	-3.16	0.64246	D	0.589	0.60918	-0.9707	0.37052	T	0.097	0.36522	T	10	0.010420471	0.00232	T	0.028771	0.51392	D	0.189	0.46613	.	.	0.729170019825	0.72676	0.39820750156170415	0.39735	0.610862558418	0.55752	0.648675620556	0.59798	T	0.248321	0.61810	T	-0.379792	0.03125	T	-0.314596	0.43164	T	0.0263633914245369	0.01455	T	0.907809	0.67374	D	0.29453546	0.52410	0.214113	0.45949	0.29453546	0.52410	0.214113	0.45948	-4.252	0.27499	T	.	.	0.241	0.47557	B	.	.	5.180072	0.86850	29.0	0.99922431890203078	0.98852	0.98649	0.85128	D	AEFBI	0.790384	0.71929	D	0.758183376459809	0.83436	8.017291	0.733994438704107	0.84955	8.439397	0.997655431653178	0.35867	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.93	5.04	0.67293	9.268000	0.94851	11.840000	0.97786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0715:0.0:0.9285:0.0	13.637	0.61696	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	212.83	33	chr12	101386059	.	G	A	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=159;ExcessHet=0;FS=1.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.84;SOR=0.967	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,701	5	0	1	0
chr12	101757267	101757267	G	A	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon18:c.C3379T:p.R1127C	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0664392343708	.	.	8.27e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs770952898	6.862e-06	8.893e-06	9.56e-06	4.137e-06	2.993e-05	3.47e-06	2.53e-06	1.32e-06	9.6e-07	2.993e-05	2.237e-05	0	0	5.625e-05	0	4.51e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.968	0.71741	D	0.000002	0.62929	D	0.103596	1	0.81001	D	2.175	0.60977	M	-1.65	0.82625	D	-4.5	0.78135	D	0.872	0.86941	-0.3898	0.72349	T	0.409	0.75782	T	10	0.82880616	0.82050	D	0.066439	0.69876	D	0.679	0.88205	0.445	0.50302	0.922133125138	0.92134	0.7861915661612964	0.78571	0.958108681369	0.72899	0.868327498436	0.92329	D	0.680694	0.90621	D	0.412038	0.90595	D	0.354087	0.90477	D	0.994026303291321	0.85086	D	0.979002	0.92669	D	0.35670832	0.57585	0.4478734	0.67852	0.35670832	0.57585	0.4478734	0.67852	-11.587	0.82781	D	0.7642746028802162	0.84584	0.934	0.85387	P	.	.	5.754276	0.93398	33	0.99935412730299933	0.99579	0.97243	0.73538	D	AEFBI	0.831447	0.74998	D	0.545224053357425	0.69791	5.407543	0.62996040945182	0.77125	6.619674	0.998451865919762	0.36996	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	6.293000	0.72717	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.628	0.99524	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	274.84	7	chr12	101757267	.	G	A	274.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.745;DP=131;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.176;SOR=1.27	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1061	5	0	1	0
chr12	102039950	102039950	T	C	exonic	WASHC3	.	nonsynonymous SNV	WASHC3:NM_001301107:exon5:c.A350G:p.Q117R,WASHC3:NM_016053:exon5:c.A353G:p.Q118R	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00356606520101	.	.	4.142e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs755388833	2.627e-05	2.805e-05	1.791e-05	3.469e-05	0.0002	1.953e-05	1.71e-05	0.0001	0.0001	0	0	0	0	0	0.0002	1.548e-05	3.343e-05	0.0002	1.969e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.15	0.29158	T	0.231	0.26226	T	0.236	0.30770	B	0.094	0.30180	B	0.000018	0.62929	N	0.156495	0.995119	0.42550	D	.	.	.	.	.	.	-1.8	0.45949	N	0.245	0.31253	-0.9946	0.31405	T	0.142	0.46294	T	9	0.11114544	0.20801	T	0.003566	0.08123	T	0.045	0.12272	0.451	0.51285	0.124217242631	0.12060	0.22427112875358118	0.22342	0.0542525908372	0.05997	0.412576854229	0.26814	T	0.032236	0.22396	T	-0.246029	0.14589	T	-0.354512	0.38687	T	0.171293959021568	0.18667	T	0.577942	0.20808	T	0.114315666	0.26990	0.16975637	0.39034	0.114315666	0.26990	0.16975637	0.39033	-5.011	0.36959	T	.	.	0.076	0.05935	B	.;.	.;.	2.840227	0.37468	20.5	0.99024704773886429	0.50655	0.81928	0.41237	D	AEFGBHCI	0.283356	0.39648	N	-0.131653021466196	0.36018	2.076406	0.0275237702568803	0.40998	2.455783	0.923203924649245	0.26735	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.82	4.67	0.58089	3.098000	0.49950	5.143000	0.47720	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0787:0.0:0.9213	9.896	0.40487	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1009.83	35	chr12	102039950	.	T	C	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.569;DP=280;ExcessHet=0;FS=3.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.301;SOR=0.439	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1020,0,1487	5	0	1	0
chr12	103705720	103705720	C	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon37:c.C3989A:p.T1330N	.	7	1487	28	0	0	28	0.00932712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0509953503137	0.0002	0.000599042	0.0008	0	0	0	0	0.0004	0.0011	0.0044	0.0006856	106	154602	rs201821239	0.0004	0.0004	0.0003	0.0006	0.0064	0.0004	0.0004	0.0048	0.0042	2.987e-05	0.0005	0.0016	0	0	0.0064	9.353e-05	0.0007	0.0045	0.0005	0.0005	0.0002	0.0007	0.0052	0.0004	0.0003	0.0036	0.0031	2.406e-05	0	0.0012	0.0006	0	0	0.0068	0.0003	0.0005	0.0052	0.027	0.46513	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.110237	0.882891	0.35788	D	1.765	0.45800	L	-2.06	0.85875	D	-2.27	0.50666	N	0.357	0.39861	0.503	0.90587	D	0.708	0.89977	D	10	0.01371336	0.00290	T	0.050995	0.64476	D	0.361	0.68141	.	.	0.803979797774	0.80215	0.6817167318592029	0.68110	0.187205896589	0.21033	0.544834434986	0.45129	T	0.187926	0.54168	T	-0.294554	0.09182	T	-0.196027	0.55023	T	0.104326851224289	0.12825	T	0.727127	0.34152	T	0.3371174	0.56049	0.44186336	0.67456	0.3371174	0.56049	0.44186336	0.67457	-6.762	0.52276	T	.	.	0.142	0.31253	B	.	.	1.806640	0.22960	15.83	0.9898654450147979	0.49841	0.83466	0.42581	D	AEFBI	0.451692	0.50556	N	0.263445257592735	0.54307	3.596602	0.172457429291924	0.48344	3.051557	0.860710096106632	0.25219	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	4.85	0.62375	1.246000	0.32405	1.404000	0.26222	0.599000	0.40250	0.748000	0.29111	0.779000	0.26763	0.251000	0.23288	0.0:0.8702:0.1297:0.0	16.695	0.85192	869	0.31655	.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.1667	1420.04	34	chr12	103705720	.	C	A	1420.04	.	AC=2;AF=0.167;AN=12;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.56;SOR=1.038	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	5	1	0	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	77.79	76	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	77.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=422;ExcessHet=0;FS=1.2;MLEAC=1;MLEAF=0.083;MQ=58.58;MQRankSum=-8.627;QD=0.76;ReadPosRankSum=-2.56;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,111,1665:.	5	0	1	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	78.66	38	chr12	103984922	.	T	TTAAGGA	78.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.99;DP=433;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.36;MQRankSum=-9.402;QD=0.77;ReadPosRankSum=-2.491;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,111,1665:.	4	0	1	1
chr12	104093413	104093413	A	G	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon10:c.A1312G:p.T438A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00231345981954	.	.	8.357e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs746682588	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	2.195e-05	1.431e-05	0	0	0	0	0	0.0002	7.197e-06	6.629e-05	5.8e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	0.486012	0.05009	N	1.273270	0.999983	0.18198	N	1.845	0.48678	L	4.73	0.01620	T	-0.3	0.11913	N	0.038	0.01203	-0.9125	0.46543	T	0.003	0.00864	T	10	0.04753092	0.04083	T	0.002313	0.04452	T	0.071	0.20720	0.131	0.03577	0.502047813367	0.49841	0.5486561770126567	0.54791	0.805347081922	0.66429	0.265795141459	0.05600	T	0.039453	0.25195	T	-0.420688	0.01693	T	-0.741436	0.03831	T	0.0465456104821882	0.04882	T	0.307569	0.05925	T	0.020473177	0.00607	0.028631138	0.01117	0.020473177	0.00607	0.028631138	0.01117	-4.175	0.26388	T	.	.	0.061	0.01126	B	.	.	1.289193	0.16899	12.83	0.70350442684055281	0.09267	0.30110	0.23997	N	AEFBI	0.047135	0.07904	N	-1.1343231192272	0.06041	0.2770808	-1.09197892484985	0.07857	0.3839101	7.43114506602944E-4	0.07741	0.732398	0.92422	0	0.708844	0.79440	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.58	-4.58	0.03168	0.395000	0.20576	1.057000	0.23687	0.686000	0.82685	0.817000	0.29947	0.642000	0.25920	0.854000	0.40426	0.2715:0.2223:0.1747:0.3314	0.095	0.00039	856	0.34373	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	891.83	35	chr12	104093413	.	A	G	891.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.671;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.374;SOR=0.713	GT:AD:DP:GQ:PL	0/1:40,43:83:99:902,0,951	5	0	1	0
chr12	105149736	105149736	A	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon25:c.A2639G:p.Q880R,WASHC4:NM_015275:exon25:c.A2636G:p.Q879R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.010796529327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.444	0.13177	T	0.144	0.27697	B	0.082	0.29098	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.94	0.43672	T	-1.6	0.38540	N	0.617	0.67908	-1.0114	0.26478	T	0.112	0.40006	T	10	0.43354934	0.57647	T	0.010797	0.27747	T	0.247	0.55478	0.362	0.36711	0.468504517574	0.46476	0.7643528262417968	0.76383	0.380374659178	0.39407	0.636296749115	0.58038	T	0.007906	0.20890	T	0.0227449	0.54753	T	-0.205105	0.54163	T	0.894473135471344	0.54587	D	0.891611	0.62654	D	0.33398953	0.55795	0.2746048	0.53390	0.33398953	0.55795	0.2746048	0.53389	-7.436	0.57158	T	0.3604586751250251	0.45695	0.096	0.19518	B	.;.	.;.	3.520857	0.49350	22.8	0.99559595113000032	0.71707	0.98892	0.88252	D	AEFGBI	0.911389	0.87060	D	0.220978640405951	0.52217	3.397229	0.382399936640429	0.60481	4.236045	0.999999998960038	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	5.52	5.52	0.82153	9.325000	0.96006	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.224	0.65390	649	0.63102	WASH complex subunit 7, central domain;WASH complex subunit 7, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	33	chr12	105149736	.	A	G	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.517;DP=263;ExcessHet=0;FS=2.797;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=1.39;SOR=0.645	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	5	0	1	0
chr12	106240132	106240132	T	C	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.A701G:p.E234G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.0995561308731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.36	0.67893	M	-1.97	0.85173	D	-4.04	0.74427	D	0.824	0.81957	0.529	0.90953	D	0.743	0.91209	D	10	0.87471294	0.86755	D	0.099556	0.77128	D	0.846	0.95212	0.662	0.79996	0.738620126976	0.73628	.	.	0.984526789669	0.73857	0.667167425156	0.62435	T	0.35045	0.71816	T	0.381799	0.88824	D	0.310652	0.88683	D	0.995723724365234	0.87953	D	0.692631	0.30204	T	0.3809813	0.59387	0.45651385	0.68411	0.3809813	0.59387	0.45651385	0.68411	-10.114	0.74591	D	.	.	0.791	0.76892	P	.	.	4.604276	0.72959	25.9	0.99908474890935917	0.97875	0.98908	0.88470	D	AEFBI	0.931449	0.92028	D	0.776162166670644	0.84596	8.331782	0.759827247817542	0.86888	9.036412	0.999999991918944	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.384000	0.79020	6.128000	0.53877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	16.161	0.81518	911	0.21964	.	.	.	.	.	.	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	1999.83	41	chr12	106240132	.	T	C	1999.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=306;ExcessHet=0;FS=3.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.355;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1179:.	5	0	1	0
chr12	106321520	106321520	G	A	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_001286262:exon5:c.G449A:p.R150Q,TCP11L2:NM_152772:exon5:c.G449A:p.R150Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0266167698494	0.0021	0.000399361	0.0014	0.0009	0.0008	0.0002	0.0002	0.0022	0.0023	0.0002	0.0015718	243	154602	rs138066544	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0005	0.0013	0.0011	2.519e-05	9.36e-05	0.0024	0.0030	0.0028	0.0003	0.0017	0.0017	0.0020	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0006	0	0.0020	0.0009	0	0.0002	0.0068	0.0028	0.0038	0.0004	0.064	0.68238	T	0.055	0.60972	T	0.996	0.68779	D	0.954	0.69447	D	0.000019	0.62929	D	0.113050	1	0.81001	D	2.725	0.79712	M	2.55	0.13795	T	-3.3	0.67129	D	0.433	0.48689	-1.0902	0.05499	T	0.112	0.40052	T	10	0.022249341	0.00551	T	0.026617	0.49512	D	0.271	0.58633	.	.	0.472982741448	0.46926	0.599964848057429	0.59927	0.13347774739	0.15028	0.351426035166	0.18132	T	0.100132	0.40562	T	-0.396211	0.02451	T	-0.34205	0.40113	T	0.0246036288702697	0.01221	T	0.937406	0.82717	D	0.5663731	0.70860	0.41167554	0.65392	0.5663731	0.70862	0.41167554	0.65392	-8.716	0.65850	D	.	.	0.201	0.42462	B	.;.;.;.	.;.;.;.	5.138356	0.86020	28.8	0.99960205834434734	0.99994	0.98773	0.86667	D	AEFBI	0.798578	0.72508	D	0.772792629799758	0.84378	8.271391	0.800262199471699	0.89812	10.13136	0.999999471590173	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	7.714000	0.83668	9.822000	0.81809	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	20.437	0.99095	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.08333	274.83	34	chr12	106321520	.	G	A	274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.32;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=1.16;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	5	0	1	0
chr12	106340857	106340857	A	G	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_152772:exon9:c.A1174G:p.I392V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00339414326258	.	0.00119808	0.0003	9.632e-05	0.0002	0	0	0.0001	0	0.0018	0.0002975	46	154602	rs144573610	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	9.066e-05	9.369e-05	0	0	0	0.0005	3.153e-05	0.0001	0.0021	0.0001	0.0001	8.995e-05	0.0002	0.0023	8.659e-05	7.252e-05	0.0013	0.0010	2.406e-05	0	6.54e-05	0	0	0	0	0.0001	0	0.0023	0.337	0.12837	T	0.321	0.19073	T	0.0	0.02946	B	0.012	0.16012	B	0.003011	0.35573	N	0.307770	0.572154	0.31169	N	0.29	0.10111	N	2.23	0.18083	T	-0.09	0.08340	N	0.169	0.17966	-1.0075	0.27696	T	0.021	0.08732	T	10	0.008861154	0.00201	T	0.003394	0.07603	T	0.054	0.15330	.	.	0.171388866994	0.16791	0.08581802960568598	0.08515	0.0486988471212	0.05321	0.266134291887	0.05644	T	0.004014	0.03423	T	-0.592889	0.00161	T	-0.631205	0.10323	T	0.0131646609467332	0.00233	T	0.670533	0.27914	T	0.028451141	0.02184	0.036447026	0.03093	0.028451141	0.02183	0.036447026	0.03092	-2.716	0.07438	T	.	.	0.063	0.01449	B	.	.	0.639949	0.10083	6.832	0.88794481462090846	0.18261	0.10693	0.16126	N	AEFBI	0.051299	0.09049	N	-0.707041557917511	0.15823	0.8008658	-0.574070522005304	0.20171	1.085507	0.921078222854261	0.26658	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.22	2.84	0.32241	0.484000	0.22017	2.157000	0.30954	0.756000	0.94297	0.097000	0.22731	0.728000	0.26397	0.998000	0.85391	0.6941:0.0:0.1594:0.1465	4.271	0.10233	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	647.83	33	chr12	106340857	.	A	G	647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=216;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.266;SOR=0.95	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	5	0	1	0
chr12	107319379	107319379	G	T	exonic	BTBD11	.	nonsynonymous SNV	BTBD11:NM_001018072:exon1:c.G439T:p.A147S,BTBD11:NM_001347943:exon1:c.G439T:p.A147S	.	435	1083	4	0	0	4	0.00184332	.	.	.	2700976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.019971111193	.	.	0.0004	0	0	0	0	0.0006	0	0.0005	7.12e-05	11	154602	rs774078026	0.0001	0.0001	9.858e-05	0.0001	0.0009	9.621e-05	9.091e-05	0.0004	0.0002	3.055e-05	0	0	0	2.097e-05	0.0009	0.0001	0.0002	0.0003	7.224e-05	7.218e-05	8.994e-05	5.374e-05	0.0004	3.969e-05	3.126e-05	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0.0068	7.351e-05	0.0005	0.0004	0.005	0.65419	D	0.03	0.54159	D	0.993	0.68779	D	0.968	0.78936	D	0.000048	0.53742	D	0.070660	0.999896	0.50595	D	2.13	0.59329	M	0.92	0.44461	T	-1.27	0.41239	N	0.726	0.72746	-0.4750	0.69548	T	0.278	0.64967	T	10	0.5028427	0.61648	D	0.019971	0.42463	T	0.282	0.59981	0.542	0.65446	0.4517682171	0.44797	0.4712626190530029	0.47045	0.979502503162	0.73690	0.744501709938	0.73634	T	0.139739	0.47392	T	-0.236607	0.15786	T	-0.280087	0.46794	T	0.172704832931096	0.18762	T	0.930507	0.74459	D	0.3109064	0.53865	0.23193493	0.48340	0.3109064	0.53865	0.23193493	0.48339	-7.948	0.61247	D	.	.	0.170	0.51394	B	.;.;.	.;.;.	5.163192	0.86520	28.9	0.99499412802440301	0.67916	0.96973	0.71960	D	AEFDBCIJ	0.903209	0.85203	D	0.813223215682549	0.86925	9.044823	0.768752419276166	0.87549	9.261025	1.0	0.98316	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.74	4.74	0.59717	9.566000	0.97299	11.689000	0.94328	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.685	0.88159	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004069	0.000000	0.005450	0.002941	0.050000	0.008621	0.003106	0.000000	0.08333	697.83	35	chr12	107319379	.	G	T	697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.532;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.835;SOR=0.85	GT:AD:DP:GQ:PL	0/1:21,26:47:99:708,0,494	5	0	1	0
chr12	108519092	108519092	C	G	exonic	FICD	.	nonsynonymous SNV	FICD:NM_007076:exon3:c.C994G:p.Q332E	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00132950667831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	0.02239	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.004541	0.33648	N	0.372188	0.999598	0.81001	D	-1.005	0.01165	N	.	.	.	0.35	0.03761	N	0.074	0.04790	-0.9627	0.38664	T	0.056	0.23413	T	9	0.02797553	0.00935	T	0.00133	0.01885	T	0.065	0.18881	0.387	0.40788	0.355658859761	0.35178	0.5015983488860183	0.50081	0.274362340275	0.29928	0.291806340218	0.09185	T	0.018246	0.14740	T	-0.269077	0.11859	T	-0.624287	0.10851	T	0.0630517024196776	0.07640	T	0.856914	0.54589	D	0.24597305	0.47561	0.20052485	0.43987	0.24597305	0.47561	0.20052485	0.43986	-4.904	0.35780	T	.	.	0.059	0.00780	B	.	.	0.475019	0.08445	5.203	0.62298910650473416	0.06927	0.71002	0.34827	D	AEFDBCI	0.079625	0.16086	N	-1.06687024630479	0.07261	0.3367398	-0.876254718590257	0.12657	0.652393	0.999761688811034	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.96	0.547	0.16392	-0.138000	0.10353	0.767000	0.21364	0.599000	0.40250	0.602000	0.27764	0.999000	0.35428	1.000000	0.97212	0.0:0.4548:0.4832:0.062	16.345	0.82959	888	0.27761	Fido domain|Fido 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	.	.	.	.	.	.	.	.	0.08333	1893.83	38	chr12	108519092	.	C	G	1893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.843;DP=322;ExcessHet=0;FS=2.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.7;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	5	0	1	0
chr12	108885155	108885160	GCCTCT	-	exonic	DAO	.	nonframeshift deletion	DAO:NM_001917:exon2:c.149_154del:p.L51_W52del	.	423	1097	2	0	0	2	0.000910747	.	.	.	3212070	DAO-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0009	0	0.0008	0	0	0.0002	0	0.0053	0.0001537	4	26028	rs546485721	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	2.988e-05	0.0006	0.0014	2.521e-05	0	0.0014	4.408e-05	0.0005	0.0041	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0007	0.0017	0	0	0.0034	4.411e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2059.79	40	chr12	108885154	.	GGCCTCT	G	2059.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.259;SOR=0.654	GT:AD:DP:GQ:PL	0/1:63,55:118:99:2070,0,2479	5	0	1	0
chr12	109768674	109768674	G	A	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.G745A:p.G249S	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	0.00399361	0.0026	0	0.0005	0	0	0.0001	0.0043	0.0139	0.0015265	236	154602	rs573612907	0.0007	0.0007	0.0004	0.0010	0.0102	0.0006	0.0006	0.0097	0.0095	3.005e-05	0.0002	0	0	0	0	4.693e-05	0.0008	0.0102	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	4.808e-05	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0130	0.787	0.03227	T	0.763	0.04587	T	0.883	0.48537	P	0.241	0.38645	B	0.230373	0.15934	N	0.551996	0.997582	0.22598	N	1.61	0.41143	L	1.56	0.29602	T	-1.1	0.28497	N	0.22	0.24634	-1.0721	0.08957	T	0.048	0.20315	T	10	0.004648328	0.00097	T	.	.	.	0.051	0.14325	.	.	0.0954503805726	0.09146	0.5463369420145531	0.54559	0.689501195314	0.60490	0.677728176117	0.63942	T	0.018111	0.14658	T	-0.527529	0.00397	T	-0.521141	0.20180	T	0.0599540318527935	0.07161	T	0.694731	0.30434	T	0.084215514	0.19483	0.09643824	0.22915	0.10024545	0.23668	0.08306939	0.19007	-3.596	0.17799	T	0.15416366932963138	0.18390	0.076	0.06114	B	.;.	.;.	3.568799	0.50251	22.9	0.99651010492632397	0.77317	0.67708	0.33531	D	AEFBI	0.187698	0.31499	N	-0.0068965812177889	0.41542	2.486703	0.0180768467717694	0.40554	2.422138	0.856265499745907	0.25139	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.1	3.1	0.34780	4.879000	0.62792	6.030000	0.52909	0.511000	0.23309	0.909000	0.31653	1.000000	0.68203	0.478000	0.28520	0.1071:0.0:0.8929:0.0	11.252	0.48264	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1163.83	34	chr12	109768674	.	G	A	1163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.317;DP=247;ExcessHet=0;FS=0.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-1.04;SOR=0.557	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1174,0,739	5	0	1	0
chr12	109798808	109798808	G	A	exonic	TRPV4	.	stopgain	TRPV4:NM_001177428:exon4:c.C817T:p.R273X,TRPV4:NM_001177433:exon4:c.C817T:p.R273X,TRPV4:NM_147204:exon5:c.C958T:p.R320X,TRPV4:NM_001177431:exon6:c.C856T:p.R286X,TRPV4:NM_021625:exon6:c.C958T:p.R320X	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	462180	not_provided|Scapuloperoneal_spinal_muscular_atrophy|Brachyrachia_(short_spine_dysplasia)|Spondylometaphyseal_dysplasia,_Kozlowski_type|Metatropic_dysplasia|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8|Charcot-Marie-Tooth_disease_axonal_type_2C|not_specified|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease	MedGen:C3661900|MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255|MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304|MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314|MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635|MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216|MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.946e-05	0	0	0	0	9.002e-05	0	0	3.88e-05	6	154602	rs142902080	9.03e-05	9.029e-05	0.0001	7.425e-05	0.0002	7.756e-05	7.299e-05	9.611e-05	8.958e-05	5.974e-05	2.236e-05	0	0	0	0.0002	0.0001	3.311e-05	1.159e-05	5.257e-05	5.253e-05	8.991e-05	1.345e-05	0.0001	2.557e-05	1.83e-05	4.764e-05	3.338e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.972	0.98563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345987	0.86236	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;.	High;High;.;.;.;.	8.328558	0.97435	37	0.99818041780347622	0.90150	0.94139	0.60230	D	AEFDBI	0.169765	0.29662	N	0.541410342778937	0.69559	5.37441	0.270191062622782	0.53806	3.547888	0.00997145105837718	0.11944	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.37	3.45	0.38602	1.880000	0.39263	4.948000	0.46261	0.676000	0.76740	0.623000	0.27939	1.000000	0.68203	0.328000	0.25156	0.0:0.0:0.828:0.172	12.668	0.56217	704	0.57414	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1258.83	38	chr12	109798808	.	G	A	1258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.114;DP=302;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.181;SOR=1.075	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1500	5	0	1	0
chr12	109814471	109814471	T	-	exonic	TRPV4	.	frameshift deletion	TRPV4:NM_001177428:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_001177433:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_147204:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_001177431:exon2:c.224delA:p.D75Afs*20,TRPV4:NM_021625:exon2:c.326delA:p.D109Afs*20	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1176.79	35	chr12	109814470	.	GT	G	1176.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=251;ExcessHet=0;FS=5.884;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-2.586;SOR=1.067	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	5	0	1	0
chr12	110403634	110403634	C	G	exonic	ANAPC7	.	nonsynonymous SNV	ANAPC7:NM_001137664:exon1:c.G96C:p.Q32H	.	431	1082	8	1	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0109	0.0113818	0.0078	0.0492	0.0094	0	0	0.0045	0.0105	0.0004	0.004062	628	154602	rs138457092	0.0021	0.0021	0.0022	0.0020	0.0301	0.0020	0.0020	0.0286	0.0279	0.0301	0.0041	0.0156	0	3.864e-05	0.0126	0.0010	0.0048	0.0003	0.0098	0.0098	0.0101	0.0096	0.0291	0.0094	0.0092	0.0278	0.0272	0.0291	0	0.0065	0.0199	0	0	0.0408	0.0013	0.0085	0.0002	0.168	0.23007	T	0.119	0.36101	T	0.042	0.23930	B	0.025	0.25995	B	.	.	.	.	0.999841	0.20103	N	0	0.06538	N	-0.06	0.63568	T	0.0	0.07008	N	0.081	0.19728	-1.0555	0.12908	T	0.050	0.21300	T	9	0.002744764	0.00043	T	.	.	.	0.057	0.16321	0.313	0.28774	0.439949123286	0.43613	0.12583829450916081	0.12509	0.640425930925	0.57674	0.345411896706	0.17244	T	0.051436	0.28879	T	-0.474772	0.00794	T	-0.430379	0.29891	T	0.0315332421110311	0.02231	T	0.366763	0.08556	T	0.1453602	0.33325	0.20709682	0.44954	0.1453602	0.33325	0.20709682	0.44953	-3.461	0.15890	T	.	.	0.140	0.32202	B	.;.	.;.	1.077992	0.14608	11.17	0.8714836067367332	0.17021	0.18998	0.20487	N	ALL	0.107204	0.21366	N	-0.514084524135217	0.21623	1.148949	-0.391964502692429	0.25235	1.386576	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.21	5.21	0.72005	0.519000	0.22570	-0.142000	0.11507	0.599000	0.40250	0.029000	0.20367	0.000000	0.08366	0.049000	0.15107	0.1604:0.8396:0.0:0.0	13.034	0.58265	222	0.91398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.071429	0.027248	0.017544	0.050000	0.017241	0.012195	0.011364	0.08333	265.83	33	chr12	110403634	.	C	G	265.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=0.142;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1000	5	0	1	0
chr12	110468566	110468566	C	T	exonic	GPN3	.	nonsynonymous SNV	GPN3:NM_001164372:exon1:c.G71A:p.G24E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00123166981038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217722335	7.221e-07	6.84e-07	0	1.463e-06	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999895	0.22287	N	.	.	.	1.71	0.26737	T	-0.25	0.11008	N	0.083	0.05929	-1.0057	0.28247	T	0.024	0.10329	T	7	0.06769633	0.09470	T	0.001232	0.01633	T	0.021	0.04004	0.25	0.18757	0.144782658237	0.14088	0.06806804752868734	0.06744	0.256200401106	0.28190	0.222963660955	0.01488	T	.	.	.	-0.299123	0.08743	T	-0.667446	0.07773	T	0.0896306051680423	0.11174	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.083	0.09045	B	.	.	0.309121	0.06842	3.372	0.86557924032985434	0.16617	0.01744	0.05500	N	ALL	0.026477	0.01996	N	-1.05849825374322	0.07421	0.3447192	-1.20376519053375	0.05849	0.2798699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.45	-4.07	0.03707	-0.193000	0.09572	-0.029000	0.12820	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2386:0.3172:0.1872:0.257	0.438	0.00448	223	0.91367	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1641.83	34	chr12	110468566	.	C	T	1641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.337;SOR=0.702	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	5	0	1	0
chr12	110493191	110493191	T	A	exonic	VPS29	.	nonsynonymous SNV	VPS29:NM_016226:exon3:c.A236T:p.Q79L,VPS29:NM_057180:exon4:c.A248T:p.Q83L,VPS29:NM_001282150:exon5:c.A332T:p.Q111L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0448490444346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776592356	4.941e-06	6.156e-06	2.794e-06	7.133e-06	8.767e-05	2.06e-06	1.32e-06	4.035e-05	2.835e-05	0	0	0	0	0	0	0	0	8.767e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.35726	T	0.271	0.27325	T	0.237	0.30795	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	2.27	0.17431	T	-4.16	0.76334	D	0.68	0.79986	-1.0827	0.06833	T	0.082	0.32353	T	10	0.5048476	0.61758	D	0.044849	0.61690	D	0.255	0.56562	0.49	0.57573	0.134007934775	0.12933	0.6717054376829981	0.67108	1.21741325379	0.81012	0.798535227776	0.81740	T	0.301482	0.67393	T	-0.107805	0.35132	T	-0.200948	0.54556	T	0.7469398616623	0.43115	D	0.961304	0.85476	D	0.6257177	0.74069	0.49042925	0.70520	0.6257177	0.74070	0.49042925	0.70520	-11.025	0.79796	D	.	.	0.228	0.55631	B	.;.;.;.	.;.;.;.	4.228209	0.64011	24.7	0.99227073373685482	0.56089	0.98921	0.88653	D	AEFBI	0.895579	0.83575	D	0.390865923354712	0.60928	4.287203	0.513498674568706	0.68898	5.283915	0.999999951823282	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.014000	0.88267	7.915000	0.74225	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.560	0.84401	283	0.88803	Calcineurin-like phosphoesterase domain, lpxH type;.;Calcineurin-like phosphoesterase domain, lpxH type;Calcineurin-like phosphoesterase domain, lpxH 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	.	.	.	.	.	.	.	.	0.08333	1164.83	33	chr12	110493191	.	T	A	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=247;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.481;SOR=1.112	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1175,0,758	5	0	1	0
chr12	111362902	111362902	G	A	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.C526T:p.R176C,PHETA1:NM_144671:exon3:c.C526T:p.R176C,PHETA1:NM_001177996:exon4:c.C565T:p.R189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.193287058618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190315116	1.177e-05	1.642e-05	1.446e-05	8.977e-06	3.219e-05	6.97e-06	5.64e-06	6e-06	4.74e-06	3.219e-05	3.018e-05	0	0	0	0	1.125e-05	0	2.687e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	6.551e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.941e-05	0.0005	0	0.043	0.41364	D	0.026	0.55759	D	0.013	0.16609	B	0.001	0.04355	B	.	.	.	.	0.998673	0.45259	D	1.24	0.30952	L	1.45	0.32482	T	-1.8	0.42384	N	0.123	0.12770	-1.0445	0.15971	T	0.046	0.19839	T	9	0.13128969	0.24987	T	0.193287	0.86294	D	0.020	0.03691	0.324	0.30549	0.297718772494	0.29385	0.18476738781075613	0.18394	0.593637700263	0.54702	0.636722207069	0.58098	T	0.006532	0.05961	T	-0.214183	0.18794	T	-0.545436	0.17767	T	0.252397686243057	0.22980	T	0.523848	0.17156	T	0.07715228	0.17493	0.05571404	0.09825	0.07715228	0.17492	0.05571404	0.09825	-5.148	0.39774	T	.	.	0.178	0.38800	B	.;.;.	.;.;.	2.255631	0.28814	17.92	0.98651384872707759	0.44192	0.14603	0.18490	N	AEFDBI	0.035987	0.04722	N	-0.750565329437608	0.14617	0.7296701	-0.76062843076045	0.15462	0.8132909	0.99948083070677	0.39952	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.03	2.1	0.26226	1.894000	0.39401	0.828000	0.21920	0.588000	0.31329	0.985000	0.35982	0.001000	0.17328	0.490000	0.28791	0.1411:0.0:0.8589:0.0	7.305	0.25616	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	582.83	33	chr12	111362902	.	G	A	582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.42;DP=175;ExcessHet=0;FS=4.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.117;SOR=0.718	GT:AD:DP:GQ:PL	0/1:6,21:27:99:593,0,99	5	0	1	0
chr12	111756411	111756411	G	A	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon21:c.G3118A:p.D1040N,ACAD10:NM_001136538:exon22:c.G3211A:p.D1071N	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0317752660154	0.0005	0.000798722	0.0003	0.0007	0.0002	0	0	0.0004	0	6.583e-05	0.0002846	44	154602	rs142030532	0.0002	0.0002	0.0003	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0006	0.0002	0	0.0002	3.805e-05	0.0014	0.0002	0.0004	9.303e-05	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0003	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999701	0.81001	D	.	.	.	-3.93	0.96111	D	-4.22	0.75854	D	0.686	0.69213	1.096	0.99499	D	0.958	0.98639	D	10	0.43377528	0.57660	T	0.031775	0.53776	D	0.696	0.89007	.	.	0.904383710221	0.90342	0.7187078924800595	0.71813	0.16433557484	0.18543	0.591018974781	0.51637	T	0.752825	0.93241	D	-0.103616	0.35826	T	-0.0201715	0.69017	D	0.121477037616666	0.14573	T	0.991801	0.97430	D	0.4205179	0.62126	0.42083362	0.66034	0.4205179	0.62127	0.42083362	0.66034	-13.452	0.91494	D	.	.	0.726	0.75157	P	.;.	.;.	3.565450	0.50190	22.9	0.99893285300126622	0.96666	0.93092	0.57307	D	AEFDBI	0.486636	0.52572	N	0.78721040606921	0.85296	8.534669	0.637637391135748	0.77691	6.728724	0.999999987847054	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	4.899000	0.62932	1.425000	0.26398	0.672000	0.70159	0.999000	0.42656	0.853000	0.27411	0.225000	0.22599	0.0:0.0:1.0:0.0	18.567	0.91075	435	0.80441	.;Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	775.83	35	chr12	111756411	.	G	A	775.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.594;DP=240;ExcessHet=0;FS=8.966;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.15;SOR=0.939	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	5	0	1	0
chr12	112235243	112235243	T	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.A5779T:p.T1927S	.	426	1095	1	0	0	1	0.000456413	.	.	.	3191692	HECTD4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.00071054867033	0.0041	0.00139776	0.0026	0.0010	0.0007	0	0.0008	0.0042	0.0011	0.0006	0.0029624	458	154602	rs111790702	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0050	0.0063	0.0062	0.0007	0.0008	0.0012	2.519e-05	0.0007	0.0019	0.0064	0.0042	0.0009	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	9.416e-05	0	0.0054	0.0033	0.0008	.	.	.	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	0.997719	0.44125	D	.	.	.	.	.	.	.	.	.	0.123	0.21969	-1.0920	0.05207	T	0.050	0.21222	T	9	0.0058683753	0.00131	T	7.11E-4	0.00454	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.1659903895255529	0.16519	0.573995921077	0.53440	0.484073996544	0.36618	T	0.004906	0.04322	T	-0.557584	0.00262	T	-0.56858	0.15579	T	0.0143301920940597	0.00286	T	0.80032	0.44603	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.023969	0.25718	16.86	0.98910114609892907	0.48363	0.97549	0.75477	D	AEFBI	0.621250	0.60601	D	-0.101275346701701	0.37338	2.170815	0.140056368065171	0.46618	2.904872	0.864137033819218	0.25284	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	4.671000	0.61283	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:0.0:1.0	16.566	0.84437	101	0.95833	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	969.83	33	chr12	112235243	.	T	A	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=2.46;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	5	0	1	0
chr12	113197551	113197551	C	T	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon4:c.G1025A:p.G342D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00651252771652	.	.	8.118e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779777850	2.899e-06	4.104e-06	0	5.871e-06	5.053e-05	6.8e-07	4.6e-07	1.679e-05	9.95e-06	0	0	0	0	0	0	0	0	5.053e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999895	0.50595	D	.	.	.	0.74	0.50459	T	-3.29	0.65742	D	0.286	0.32370	-1.0638	0.10831	T	0.105	0.38341	T	6	0.14026812	0.26664	T	0.006513	0.17157	T	0.079	0.23065	0.123	0.02942	0.585747170787	0.58248	0.5588668069127177	0.55813	.	.	.	.	.	0.199252	0.55647	T	-0.248719	0.14256	T	-0.467265	0.25811	T	0.279787769706349	0.24162	T	0.683432	0.29175	T	0.2293974	0.45676	0.2915383	0.55179	0.2293974	0.45676	0.2915383	0.55178	-9.196	0.68949	D	.	.	0.361	0.57274	A	.	.	2.746271	0.35986	20.1	0.99255341185103285	0.57022	0.21431	0.21399	N	AEFBCI	0.114859	0.22608	N	-0.261805596152856	0.30635	1.710013	-0.300403582902887	0.28086	1.563227	0.999825298979669	0.43622	0.533608	0.22052	0	0.480063	0.06835	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	5.22	4.32	0.50899	1.274000	0.32736	0.390000	0.17879	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.949000	0.49496	0.1491:0.7698:0.0:0.0811	8.770	0.33887	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	991.83	35	chr12	113197551	.	C	T	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.589;DP=246;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.143;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	5	0	1	0
chr12	113208019	113208019	T	C	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon2:c.A148G:p.K50E,IQCD:NM_138451:exon2:c.A148G:p.K50E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00577300164586	.	.	3.295e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs755868572	1.984e-05	1.984e-05	5.445e-06	3.438e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.251	0.39340	T	0.997	0.70673	D	0.932	0.66722	D	0.001405	0.39109	N	0.217286	0.778233	0.34234	D	.	.	.	3.05	0.08721	T	-1.85	0.43334	N	0.32	0.36043	-1.0585	0.12134	T	0.038	0.16246	T	10	0.2026082	0.36386	T	0.005773	0.14982	T	0.071	0.20720	0.383	0.40134	0.294918367191	0.29099	0.36443508613905995	0.36357	0.585960603407	0.54216	0.531466782093	0.43242	T	0.016934	0.15622	T	-0.285608	0.10081	T	-0.351841	0.38993	T	0.172529801726341	0.18751	T	0.717128	0.34274	T	0.18082148	0.39223	0.18168567	0.41047	0.18082148	0.39222	0.18168567	0.41046	-6.713	0.59423	T	.	.	0.325	0.54868	B	.;.;.	.;.;.	3.502821	0.49019	22.7	0.99464564667029642	0.65996	0.56842	0.30221	D	AEFGBHCIJ	0.186489	0.31380	N	0.225548524842894	0.52440	3.418139	0.257178546561566	0.53058	3.476818	0.999999999789162	0.74766	0.615465	0.37627	0	0.218748	0.04544	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.028000	0.29734	4.176000	0.42305	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1795:0.8205	9.402	0.37605	747	0.52260	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2077.83	36	chr12	113208019	.	T	C	2077.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.887;DP=328;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.03;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	5	0	1	0
chr12	113940054	113940054	C	T	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon15:c.G1844A:p.R615H,RBM19:NM_001146699:exon15:c.G1844A:p.R615H,RBM19:NM_016196:exon15:c.G1844A:p.R615H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0498388664586	.	.	2.486e-05	0	0	0.0001	0	3.019e-05	0	0	1.94e-05	3	154602	rs760073881	2.258e-05	2.326e-05	2.042e-05	2.475e-05	4.472e-05	1.61e-05	1.416e-05	1.663e-05	1.425e-05	0	4.472e-05	0	2.519e-05	0	0	2.428e-05	0	3.478e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000009	0.62929	D	0.064467	1	0.81001	D	3.855	0.95805	H	3.06	0.08634	T	-4.81	0.80767	D	0.726	0.73465	-0.9068	0.47238	T	0.092	0.35174	T	10	0.76770884	0.76835	D	0.049839	0.63984	D	0.358	0.67872	0.543	0.65589	0.37097340754	0.36704	0.7461113284027338	0.74557	0.640975438989	0.57713	0.763577997684	0.76462	T	0.557277	0.85117	D	-0.0963601	0.37025	T	-0.178548	0.56657	T	0.995220601558685	0.87048	D	0.980702	0.93402	D	0.59008515	0.72155	0.39403844	0.64108	0.59008515	0.72157	0.39403844	0.64108	-10.234	0.75300	D	.	.	0.178	0.39664	B	.;.;.	.;.;.	4.960254	0.82006	27.7	0.99953374747034418	0.99957	0.97796	0.77196	D	AEFDBI	0.814299	0.73656	D	0.702327802314693	0.79786	7.15165	0.586462351695474	0.73969	6.058026	0.999999995796767	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	7.189000	0.77281	4.625000	0.44092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:1.0:0.0:0.0	16.765	0.85382	929	0.16858	RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4;RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4;RNA recognition motif domain|RNA recognition motif domain|Probable RNA-binding protein 19, RNA recognition motif 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.83	101	chr12	113940054	.	C	T	1526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.374;DP=314;ExcessHet=0;FS=1.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=1.01;SOR=0.546	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1293	5	0	1	0
chr12	118019131	118019131	G	A	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon2:c.G125A:p.S42N,RFC5:NM_007370:exon2:c.G125A:p.S42N,RFC5:NM_001130113:exon3:c.G62A:p.S21N,RFC5:NM_181578:exon3:c.G62A:p.S21N	.	.	.	.	.	.	.	.	.	.	.	3905730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00714012998972	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368899386	1.372e-06	4.104e-06	2.731e-06	0	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	9.02e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.092	0.31682	T	0.168	0.30631	T	0.004	0.12183	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.22	0.30592	L	1.01	0.41058	T	-1.2	0.30555	N	0.582	0.60325	-1.0765	0.08043	T	0.085	0.33213	T	10	0.25404578	0.42778	T	0.00714	0.18924	T	0.032	0.07718	0.255	0.19533	0.383590876969	0.37966	0.6126360726243595	0.61195	0.367650483575	0.38325	0.763191998005	0.76406	T	0.024573	0.45073	T	-0.159931	0.26770	T	-0.467506	0.25786	T	0.789899945259094	0.45682	D	0.845715	0.52486	T	0.2136978	0.43755	0.17248176	0.39506	0.2136978	0.43755	0.17248176	0.39505	-6.159	0.47590	T	.	.	0.098	0.30555	B	.;.;.;.;.	.;.;.;.;.	2.961709	0.39448	21.0	0.98936450498209838	0.48845	0.92742	0.56435	D	AEFBCI	0.812104	0.73492	D	-0.00417397639768921	0.41667	2.496327	0.187314474781923	0.49151	3.121809	0.999999997660231	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	6.887000	0.75425	6.649000	0.56209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.758	0.85364	961	0.08552	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1696.04	35	chr12	118019131	.	G	A	1696.04	.	AC=2;AF=0.167;AN=12;DP=224;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32;SOR=0.981	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1716,159,0	5	1	0	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N,WSB2:NM_018639:exon3:c.G358A:p.D120N	.	427	1051	42	2	0	46	0.0214153	.	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.005051	0.017663	0.000000	0.000000	0.025862	0.006098	0.007576	0.25	5872.0	34	chr12	118043202	.	C	T	5872.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.53;DP=397;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=-0.125;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	4	1	1	0
chr12	119472023	119472023	G	A	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon3:c.G200A:p.R67H	.	387	1130	4	0	1	5	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00903110420826	0.0016	0.000798722	0.0016	0.0007	0.0003	0.0001	0.0003	0.0016	0.0011	0.0047	0.0014553	225	154602	rs144740799	0.0019	0.0019	0.0018	0.0019	0.0040	0.0018	0.0018	0.0037	0.0035	0.0001	0.0006	0.0009	0	0.0003	0.0012	0.0019	0.0022	0.0040	0.0013	0.0013	0.0013	0.0012	0.0031	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0003	0.0006	0.0004	0.0002	0	0.0023	0.0009	0.0031	0.415	0.09989	T	0.006	0.70582	D	0.999	0.77913	D	0.928	0.66279	D	0.023712	0.26392	N	0.253027	0.997178	0.22763	N	2.14	0.59869	M	1.77	0.25841	T	-1.0	0.26422	N	0.16	0.16725	-1.0285	0.20940	T	0.107	0.38979	T	9	0.01216799	0.00262	T	0.009031	0.23774	T	0.109	0.30843	.	.	0.112648838833	0.10856	0.15239320060130945	0.15161	0.123474915224	0.13901	0.293538630009	0.09441	T	0.004638	0.04050	T	-0.565408	0.00236	T	-0.584268	0.14166	T	0.0138757149971108	0.00264	T	0.658834	0.26791	T	0.020152798	0.00565	0.023954498	0.00410	0.020152798	0.00564	0.023954498	0.00410	-4.299	0.28163	T	.	.	0.088	0.11749	B	.	.	2.526189	0.32649	19.11	0.99228102080110603	0.56120	0.17289	0.19772	N	AEFBI	0.046642	0.07767	N	-0.343904561740535	0.27498	1.509087	-0.490155608403071	0.22423	1.217864	2.09772574773633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	2.0	0.25495	0.935000	0.28523	1.210000	0.24900	-0.700000	0.04059	0.475000	0.26761	0.596000	0.25695	0.139000	0.19909	0.399:0.0:0.601:0.0	5.457	0.15894	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.005051	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.1667	3279.04	34	chr12	119472023	.	G	A	3279.04	.	AC=2;AF=0.167;AN=12;DP=285;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.51;SOR=0.984	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	5	1	0	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|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,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1667	3170.04	34	chr12	120739317	.	A	G	3170.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.56;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3190,333,0	5	1	0	0
chr12	121780955	121780955	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon4:c.G388A:p.G130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.131079426331	7.7e-05	.	2.525e-05	9.948e-05	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs148962846	2.873e-05	2.873e-05	2.995e-05	2.75e-05	0.0002	2.151e-05	1.908e-05	7.282e-05	5.161e-05	0	0.0002	0	0	0	0	3.148e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.003	0.92824	D	0.998	0.77913	D	0.797	0.63100	P	0.000001	0.84330	D	0.054537	1	0.81001	D	3.86	0.95841	H	-1.98	0.85247	D	-5.54	0.86149	D	0.914	0.97317	0.819	0.94639	D	0.798	0.93170	D	10	0.9162528	0.90985	D	0.131079	0.81330	D	0.854	0.95507	.	.	0.944546744417	0.94396	0.9057710632172282	0.90550	0.852135342546	0.68586	0.710303664207	0.68637	T	0.747448	0.95830	D	0.306017	0.83441	D	0.377643	0.91348	D	0.989755928516388	0.79975	D	0.952705	0.90967	D	0.6393334	0.74795	0.62237537	0.77997	0.6393334	0.74797	0.62237537	0.77998	-10.447	0.76542	D	.	.	0.868	0.82620	P	.;.;.;.;.	.;.;.;.;.	5.669238	0.92926	33	0.99849421018950157	0.92925	0.95258	0.64026	D	AEFDGBCI	0.908261	0.86333	D	0.801879230494897	0.86222	8.817081	0.711236337228785	0.83231	7.968	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	7.568000	0.81546	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.605	0.91218	662	0.61715	Small GTP-binding protein 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	.	.	.	.	.	.	.	.	0.08333	1206.83	33	chr12	121780955	.	C	T	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=257;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.209;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	5	0	1	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V,LRRC43:NM_152759:exon5:c.A256G:p.I86V	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.040936	0.000000	0.025862	0.009146	0.000000	0.25	3175.0	37	chr12	122190278	.	A	G	3175.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.442;DP=336;ExcessHet=0;FS=2.153;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=1.7;SOR=0.506	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	4	1	1	0
chr12	122206469	122206469	A	G	exonic	B3GNT4	.	nonsynonymous SNV	B3GNT4:NM_001330492:exon2:c.A143G:p.H48R,B3GNT4:NM_030765:exon3:c.A218G:p.H73R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0046664946748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.03996	T	0.453	0.12848	T	0.0	0.02946	B	0.0	0.01387	B	0.597896	0.05629	N	1.313780	1	0.08975	N	0.075	0.08292	N	1.49	0.34841	T	0.02	0.09796	N	0.046	0.01825	-0.9894	0.32753	T	0.025	0.10821	T	10	0.051377803	0.05011	T	0.004666	0.11566	T	0.012	0.01476	0.205	0.12076	0.119812018005	0.11559	0.29726791214289333	0.29639	0.0108487799371	0.01009	0.305981040001	0.11300	T	0.012902	0.11259	T	-0.251682	0.13894	T	-0.5993	0.12870	T	0.0806349176234419	0.10068	T	0.463154	0.13467	T	0.03532943	0.04138	0.05621737	0.10003	0.03532943	0.04138	0.05621737	0.10002	-2.995	0.10127	T	.	.	0.057	0.00563	B	.;.;.	.;.;.	-1.460061	0.00320	0.005	0.45597679192332163	0.03591	0.11186	0.16466	N	AEFDGBHCI	0.071493	0.14234	N	-1.72763394382455	0.00748	0.03231208	-1.73821404112846	0.00978	0.04383207	0.999992931303211	0.74766	0.205752	0.04085	2	0.514364	0.08380	0	0.459711	0.06710	0	0.645665	0.59343	0	.	.	5.0	-6.34	0.01808	-2.300000	0.01219	-3.528000	0.02719	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3554:0.3317:0.313:0.0	7.836	0.28533	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2458.83	37	chr12	122206469	.	A	G	2458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.114;DP=365;ExcessHet=0;FS=2.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.91;SOR=0.536	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr12	122261404	122261404	C	G	exonic	VPS33A	.	nonsynonymous SNV	VPS33A:NM_001351018:exon4:c.G307C:p.V103L,VPS33A:NM_001351019:exon4:c.G292C:p.V98L,VPS33A:NM_001351020:exon4:c.G340C:p.V114L,VPS33A:NM_001351021:exon4:c.G340C:p.V114L,VPS33A:NM_022916:exon4:c.G340C:p.V114L	Mucopolysaccharidosis-plus syndrome, Autosomal recessive	431	1087	4	0	0	4	0.00183655	.	.	.	796708	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.0421298788128	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0.0011	0.0002	0.0002264	35	154602	rs147687101	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	4.49e-05	0.0017	0	3.744e-05	0.0009	0.0002	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0	0.0012	0	0	0.0034	0.0005	0	0.0002	0.07	0.41364	T	0.184	0.38891	T	0.383	0.44725	B	0.209	0.38432	B	0.000116	0.50451	D	0.134219	1	0.81001	D	2.06	0.56677	M	-1.03	0.76430	T	-2.47	0.53898	N	0.868	0.86511	-0.2344	0.76771	T	0.384	0.74024	T	10	0.37747958	0.53942	T	0.04213	0.60298	D	0.590	0.83636	0.716	0.85141	0.797488088438	0.79559	0.6819127349927191	0.68130	1.05772570226	0.76365	0.856140971184	0.90538	D	0.556599	0.85082	D	0.0584038	0.59411	T	0.219567	0.84153	D	0.182331055402756	0.19381	T	0.937106	0.76374	D	0.4632658	0.64874	0.24641532	0.50150	0.4632658	0.64875	0.24641532	0.50149	-8.108	0.61805	D	0.390678423040006	0.48389	0.608	0.76349	P	.;.;.	.;.;.	3.678840	0.52350	23.2	0.9976535231407303	0.85417	0.98856	0.87762	D	AEFBI	0.895394	0.83536	D	0.409020669903422	0.61917	4.399535	0.493926474602736	0.67587	5.103996	0.999999999470803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.775000	0.84243	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.882	0.92331	664	0.61548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.000000	0.1667	1946.04	33	chr12	122261404	.	C	G	1946.04	.	AC=2;AF=0.167;AN=12;DP=234;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.9;SOR=1.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1381	5	1	0	0
chr12	122473634	122473634	T	C	exonic	ZCCHC8	.	nonsynonymous SNV	ZCCHC8:NM_001350935:exon11:c.A1756G:p.M586V,ZCCHC8:NM_001350938:exon11:c.A1273G:p.M425V,ZCCHC8:NM_001350937:exon12:c.A1273G:p.M425V,ZCCHC8:NM_001350936:exon13:c.A1690G:p.M564V,ZCCHC8:NM_017612:exon14:c.A1987G:p.M663V	.	0	1506	16	0	0	16	0.00528402	.	.	.	713395	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.169	.	0.0075	0.00359425	0.0085	0.0007	0.0021	0	0.0089	0.0123	0.0100	0.0065	0.0084216	1302	154602	rs139379402	0.0097	0.0097	0.0097	0.0096	0.0111	0.0096	0.0095	0.0110	0.0109	0.0016	0.0034	0.0022	0	0.0085	0.0055	0.0111	0.0072	0.0068	0.0070	0.0070	0.0076	0.0064	0.0115	0.0067	0.0065	0.0109	0.0106	0.0013	0	0.0075	0.0017	0	0.0061	0	0.0115	0.0052	0.0073	0.193	0.20912	T	0.464	0.12456	T	0.993	0.65571	D	0.621	0.51426	P	0.000000	0.84330	D	0.039904	0.929302	0.39844	D	1.935	0.51832	L	0.86	0.46777	T	-1.57	0.37955	N	0.559	0.58373	-0.8644	0.50944	T	0.115	0.40695	T	10	0.008665562	0.00196	T	.	.	.	0.169	0.43123	.	.	0.371383927776	0.36753	0.32673906889023335	0.32586	.	.	0.421713083982	0.28073	T	0.02314	0.17715	T	-0.414323	0.01861	T	-0.356891	0.38413	T	0.0194582856685798	0.00650	T	0.760024	0.38453	T	0.59290934	0.72308	0.5955058	0.76517	0.59290934	0.72309	0.5955058	0.76517	-2.462	0.05527	T	.	.	0.162	0.35684	B	.;.;.	.;.;.	2.936153	0.39022	20.9	0.9923800534272369	0.56437	0.94130	0.60203	D	AEFBCI	0.515748	0.54257	D	0.290945771969442	0.55688	3.732958	0.346381743936911	0.58291	3.998724	0.999552630850052	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.897000	0.48363	3.479000	0.38635	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	15.926	0.79402	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.003788	0.08333	1384.83	38	chr12	122473634	.	T	C	1384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.543;DP=314;ExcessHet=0;FS=3.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.603;SOR=0.625	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr12	122582769	122582769	G	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon34:c.G3047T:p.R1016L	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00403834631679	.	0.000399361	0.0006	0	0	0	0	0	0	0.0043	0.0004398	68	154602	rs370881274	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0002	8.997e-07	0.0002	0.0033	7.888e-05	7.877e-05	5.144e-05	0.0001	0.0023	4.498e-05	3.514e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.455	0.08865	T	0.295	0.20680	T	0.001	0.07471	B	0.001	0.04355	B	0.000900	0.41231	D	0.261765	0.999999	0.20864	N	1.38	0.34346	L	2.61	0.13095	T	-0.62	0.18248	N	0.364	0.40565	-1.0039	0.28785	T	0.024	0.10194	T	10	0.010383517	0.00231	T	0.004038	0.09618	T	0.036	0.09122	0.394	0.41935	0.319970858106	0.31615	0.37870602292442074	0.37785	0.0465891847188	0.05065	0.226485401392	0.01718	T	0.008516	0.07817	T	-0.556231	0.00267	T	-0.573554	0.15125	T	0.0231565928454924	0.01041	T	0.708229	0.31875	T	0.06295052	0.13203	0.052132517	0.08529	0.06295052	0.13202	0.052132517	0.08528	-3.805	0.20879	T	.	.	0.168	0.37044	B	.	.	1.671569	0.21314	15.14	0.21260234765219688	0.00802	0.56430	0.30115	D	AEFBI	0.061145	0.11670	N	-0.608449266771757	0.18689	0.9723336	-0.495862371588307	0.22267	1.208627	0.00327107136552542	0.10023	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.91	2.49	0.29274	1.904000	0.39498	2.370000	0.32424	0.676000	0.76740	0.971000	0.34370	0.369000	0.24559	0.860000	0.40782	0.1608:0.0:0.5361:0.3032	6.538	0.21562	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1381.83	38	chr12	122582769	.	G	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.971;DP=284;ExcessHet=0;FS=1.606;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.904;SOR=0.925	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1206	5	0	1	0
chr12	122859081	122859081	G	C	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2179C:p.E727Q	.	405	1114	2	1	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00339457	0.0032	0	0	0	0	0	0	0.0175	0.0016947	262	154602	rs376345720	0.0009	0.0009	0.0005	0.0013	0.0138	0.0008	0.0008	0.0132	0.0129	6.009e-05	4.584e-05	0	5.088e-05	1.94e-05	0.0005	6.314e-06	0.0014	0.0138	0.0006	0.0006	0.0003	0.0009	0.0181	0.0005	0.0005	0.0150	0.0139	4.817e-05	0	0	0	0	0	0	1.471e-05	0	0.0181	1.0	0.00964	T	0.727	0.05221	T	0.012	0.16265	B	0.007	0.12992	B	0.000055	0.53742	D	0.197970	0.998104	0.44513	D	0.765	0.19305	N	2.61	0.13095	T	-0.04	0.07590	N	0.174	0.18649	-1.0729	0.08787	T	0.027	0.11441	T	10	0.010240227	0.00229	T	.	.	.	0.057	0.16321	0.264	0.20946	0.149567049428	0.14543	0.2415942776173896	0.24073	0.0926343724949	0.10456	0.445106774569	0.31276	T	0.062023	0.31806	T	-0.606425	0.00133	T	-0.632187	0.10250	T	0.034111445258388	0.02657	T	0.729427	0.34485	T	0.13527437	0.31401	0.08169845	0.18589	0.13527437	0.31401	0.08169845	0.18588	-3.4	0.15057	T	.	.	0.098	0.16054	B	.	.	2.720462	0.35583	19.94	0.85292725646982259	0.15803	0.96550	0.69701	D	AEFDBI	0.629981	0.61150	D	-0.224162301642529	0.32144	1.810	-0.0191525478594633	0.38851	2.294883	0.999999435049272	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	3.137000	0.50257	8.234000	0.76841	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	15.537	0.75745	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003788	0.08333	1055.83	37	chr12	122859081	.	G	C	1055.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=257;ExcessHet=0;FS=1.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.255;SOR=0.54	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	5	0	1	0
chr12	123309375	123309375	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon28:c.G3565A:p.E1189K,SBNO1:NM_018183:exon28:c.G3562A:p.E1188K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0836229736956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.34621	T	0.076	0.43531	T	0.001	0.09854	B	0.001	0.08700	B	0.000721	0.42129	D	0.200475	0.999997	0.58761	D	1.385	0.34509	L	-1.71	0.83157	D	-2.2	0.49519	N	0.396	0.43706	-0.3798	0.72657	T	0.423	0.76776	T	10	0.27244127	0.44788	T	0.083623	0.74153	D	0.378	0.69612	0.5	0.59147	0.362933182269	0.35899	0.7401398360415128	0.73958	0.763264637565	0.64376	0.718657791615	0.69850	T	0.179444	0.53043	T	0.104379	0.64763	D	-0.0878435	0.64323	T	0.860445857048035	0.51092	D	0.983102	0.94254	D	0.21058935	0.43359	0.18665552	0.41850	0.21058935	0.43359	0.18665552	0.41849	-7.979	0.60927	D	.	.	0.197	0.41843	B	.;.;.	.;.;.	4.391786	0.67780	25.1	0.99787204557545572	0.87308	0.98916	0.88583	D	AEFBI	0.825011	0.74479	D	0.0574862380157154	0.44489	2.721896	0.236895074315678	0.51906	3.36933	0.99734358728419	0.35520	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	7.879000	0.85694	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.736	0.91717	458	0.78890	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	901.83	36	chr12	123309375	.	C	T	901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=279;ExcessHet=0;FS=10.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.56;SOR=1.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	5	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.08333	650.83	48	chr12	123313662	.	T	C	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.3;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=2.17;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	5	0	1	0
chr12	123893297	123893297	A	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon52:c.A8706T:p.E2902D,DNAH10:NM_001372106:exon53:c.A9060T:p.E3020D	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0235811123721	.	.	0.0001	0	8.652e-05	0	0	6.003e-05	0	0.0007	0.00011	17	154602	rs777869489	0.0001	0.0001	9.393e-05	0.0001	0.0021	0.0001	9.634e-05	0.0012	0.0009	0	6.708e-05	0	0	0	0.0021	7.375e-05	0.0001	0.0008	6.564e-05	6.561e-05	6.422e-05	6.711e-05	0.0008	3.513e-05	2.614e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	7.349e-05	0	0.0008	.	.	.	.	.	.	0.047	0.21998	B	0.131	0.32951	B	0.000040	0.55875	U	0.071448	0.995783	0.42855	D	1.17	0.29769	L	.	.	.	.	.	.	.	.	-1.0426	0.16532	T	0.090	0.34518	T	10	0.04040879	0.02607	T	0.023581	0.46546	T	0.206	0.49396	0.256	0.19689	0.137902524267	0.13322	0.5309527272611095	0.53019	0.162595922452	0.18349	0.408998847008	0.26319	T	0.008976	0.08204	T	-0.386144	0.02848	T	-0.42136	0.30919	T	0.0391243366638397	0.03532	T	0.760524	0.38496	T	0.100627355	0.23761	0.13238193	0.31769	0.100627355	0.23761	0.13238193	0.31768	-7.247	0.55818	T	.	.	0.126	0.26700	B	.;.	.;.	1.314482	0.17179	13.01	0.58200667334192635	0.05939	0.77372	0.38034	D	AEFBI	0.260262	0.37844	N	-1.09257697679092	0.06779	0.3130461	-1.12997678377261	0.07132	0.3458026	0.0019095660349062	0.08993	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.7	-4.13	0.03639	0.235000	0.17727	0.428000	0.18294	-0.208000	0.08445	0.984000	0.35821	0.964000	0.29435	0.421000	0.27250	0.742:0.0:0.258:0.0	13.008	0.58124	684	0.59539	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2403.83	175	chr12	123893297	.	A	T	2403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.633;DP=389;ExcessHet=0;FS=0.558;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.341;SOR=0.636	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.08333	1043.83	81	chr12	123916480	.	C	A	1043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.63;DP=260;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.213;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1172	5	0	1	0
chr12	123937452	123937452	G	A	exonic	CCDC92	.	nonsynonymous SNV	CCDC92:NM_001304961:exon4:c.C551T:p.T184M,CCDC92:NM_001304957:exon5:c.C602T:p.T201M,CCDC92:NM_001304959:exon5:c.C602T:p.T201M,CCDC92:NM_025140:exon5:c.C602T:p.T201M,CCDC92:NM_001304958:exon6:c.C602T:p.T201M,CCDC92:NM_001304960:exon7:c.C602T:p.T201M	.	.	.	.	.	.	.	.	.	.	.	2213579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0750063105051	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0007	0.000207	32	154602	rs150284078	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	2.987e-05	2.236e-05	0	0.0003	9.465e-05	0	0.0002	0.0001	0.0005	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.7e-05	0.0007	0.0005	7.219e-05	0	6.534e-05	0	0.0002	0.0002	0	0.0002	0	0.0015	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.104360	0.999997	0.58761	D	2.16	0.60381	M	1.75	0.26152	T	-2.09	0.47683	N	0.442	0.57348	-0.9948	0.31352	T	0.111	0.39935	T	10	0.06377378	0.08357	T	0.075006	0.72181	D	0.255	0.56562	.	.	0.541692676538	0.53821	0.49065795055664313	0.48985	1.05361816438	0.76248	0.680387675762	0.64324	T	0.042084	0.26068	T	-0.196876	0.21255	T	-0.159781	0.58372	T	0.148719012737274	0.17001	T	.	.	.	0.13207342	0.30765	0.16240856	0.37727	0.13207342	0.30765	0.16240856	0.37726	-5.063	0.37516	T	.	.	0.384	0.58646	A	.;.;.	.;.;.	5.355637	0.89828	31	0.99884527279583468	0.95970	0.97850	0.77597	D	AEFDBI	0.837847	0.75543	D	0.49348334466902	0.66706	4.985214	0.470104944766234	0.66018	4.897743	0.999999990651072	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.56	4.67	0.58089	7.432000	0.79528	11.519000	0.93038	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.071:0.0:0.929:0.0	14.366	0.66368	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1207.83	36	chr12	123937452	.	G	A	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.66;SOR=0.613	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1321	5	0	1	0
chr12	124993835	124993835	-	CTGCTGCTG	exonic	BRI3BP	.	nonframeshift insertion	BRI3BP:NM_080626:exon1:c.45_46insCTGCTGCTG:p.L25_G26insLLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0	0	.	0	0	0	0.0038	3.88e-05	6	154602	rs546819378	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0019	0.0017	0.0002	0.0002	9.764e-05	0.0016	0.0002	0.0008	0.0004	0.0004	0.0024	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0002	0	0.0012	0.0001	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	893.27	22	chr12	124993835	.	C	CCTGCTGCTG	893.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.566;DP=70;ExcessHet=0.7136;FS=3.528;MLEAC=1;MLEAF=0.083;MQ=59.48;MQRankSum=0;QD=27.07;ReadPosRankSum=-1.292;SOR=1.476	GT:AD:DP:GQ:PL	0/0:3,0:8:99:195,204,330	5	0	1	0
chr12	131136098	131136098	G	A	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.G2329A:p.V777M,ADGRD1:NM_001330497:exon23:c.G2425A:p.V809M	.	411	1110	1	0	0	1	0.000450248	.	.	.	2198795	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0308879221469	0.0004	0.000199681	0.0003	0.0010	0.0003	0	0.0002	0.0003	0	6.066e-05	0.0002523	39	154602	rs144814859	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0009	0.0008	0.0012	0.0005	0	5.038e-05	0.0001	0.0005	7.374e-05	0.0002	9.275e-05	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0009	0.0008	0.0011	0	0.0014	0	0.0004	0	0	5.879e-05	0.0019	0	0.045	0.43393	D	0.007	0.69154	D	0.968	0.56581	D	0.582	0.50238	P	0.000238	0.47286	D	0.137256	0.994619	0.42349	D	.	.	.	0.92	0.44461	T	-1.21	0.31576	N	0.742	0.75009	-0.9324	0.43785	T	0.106	0.38709	T	10	0.16570267	0.30964	T	0.030888	0.53099	D	0.178	0.44724	.	.	0.473538153929	0.46983	0.5393595857540632	0.53860	0.585778978891	0.54207	0.667350590229	0.62460	T	0.034772	0.23454	T	-0.364174	0.03899	T	-0.331265	0.41328	T	0.0631727281977282	0.07658	T	0.966303	0.87634	D	0.07759161	0.17622	0.10558186	0.25383	0.07759161	0.17621	0.10558186	0.25382	-7.491	0.59754	T	.	.	0.279	0.51245	B	.;.;.;.	.;.;.;.	3.913055	0.57078	23.8	0.99421815540811964	0.63790	.	.	.	.	0.527186	0.54923	D	0.13724623098167	0.48208	3.036083	0.0432979939897672	0.41750	2.513435	0.00317635277101382	0.09972	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	3.71	0.41733	3.818000	0.55378	7.198000	0.57790	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.098:0.0:0.902:0.0	10.360	0.43167	988	0.01987	GPCR, family 2-like;.;GPCR, family 2-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	0.001512	0.000000	0.002725	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	567.83	48	chr12	131136098	.	G	A	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.573;DP=274;ExcessHet=0;FS=2.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-1.954;SOR=0.411	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	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	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.08333	447.83	36	chr12	131756617	.	A	G	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=233;ExcessHet=0;FS=4.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.655;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	5	0	1	0
chr12	132020126	132020126	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon22:c.C4355T:p.T1452M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0131172845394	.	0.000199681	0.0002	0	0	0.0021	0	1.518e-05	0	6.199e-05	0.0001358	21	154602	rs553207849	8.772e-05	8.961e-05	9.681e-05	7.854e-05	0.0029	7.501e-05	7.048e-05	0.0025	0.0023	2.992e-05	0	0	0.0029	1.877e-05	0	4.5e-06	8.288e-05	2.338e-05	9.191e-05	9.842e-05	0.0001	8.056e-05	0.0019	5.523e-05	4.361e-05	0.0010	0.0008	2.406e-05	0	0	0	0.0019	9.411e-05	0	1.47e-05	0	0.0002	0.287	0.15149	T	0.222	0.25748	T	0.145	0.27759	B	0.03	0.21741	B	0.079267	0.20995	N	0.503154	0.971049	0.25673	N	.	.	.	-2.69	0.90451	D	-2.3	0.51157	N	0.278	0.35727	-0.4582	0.70128	T	0.495	0.80854	T	10	0.01616615	0.00340	T	0.013117	0.32271	T	0.175	0.44197	.	.	0.28494636882	0.28116	0.2244083020278702	0.22355	0.465098065425	0.45962	0.41351723671	0.26943	T	.	.	.	-0.34795	0.04857	T	-0.279846	0.46820	T	0.0466436070349301	0.04900	T	0.715028	0.32735	T	.	.	.	.	.	.	.	.	-5.862	0.45110	T	.	.	0.112	0.22024	B	.;.	.;.	3.012969	0.40302	21.1	0.95830495151823247	0.27936	0.98252	0.80950	D	AEFDBI	0.403313	0.47705	N	-0.242987801900162	0.31383	1.759217	-0.0889530542397591	0.35846	2.078713	0.986625158121177	0.31096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.56	4.66	0.57857	2.631000	0.46169	4.795000	0.44928	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.458000	0.28074	0.0:0.8423:0.0:0.1577	9.834	0.40124	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1119.83	34	chr12	132020126	.	C	T	1119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.932;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.042;SOR=0.77	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1325	5	0	1	0
chr12	132690316	132690316	G	A	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon2:c.G176A:p.R59Q	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.026390441038	.	0.000199681	2.471e-05	9.61e-05	0	0	0	1.499e-05	0	6.056e-05	2.59e-05	4	154602	rs200781916	6.362e-05	6.362e-05	6.807e-05	5.913e-05	0.0021	5.295e-05	4.911e-05	0.0017	0.0016	0	0	3.826e-05	0.0021	1.872e-05	0.0002	2.698e-06	1.656e-05	3.478e-05	9.206e-05	9.19e-05	9.001e-05	9.419e-05	0.0014	5.531e-05	4.368e-05	0.0006	0.0005	0.0002	0	0	0	0.0014	0	0	0	0	0	0.408	0.10212	T	0.453	0.21343	T	0.026	0.19406	B	0.005	0.11217	B	0.506181	0.11894	N	0.766695	0.992911	0.40796	N	0.735	0.18861	N	-2.55	0.89561	D	-0.69	0.29114	N	0.101	0.14622	-0.7068	0.60110	T	0.410	0.75845	T	10	0.02087158	0.00489	T	0.02639	0.49300	D	0.146	0.38789	0.384	0.40298	0.331619326243	0.32766	0.09177149568279447	0.09110	0.0772187619587	0.08676	0.215164005756	0.01049	T	0.097038	0.39945	T	-0.22286	0.17603	T	-0.376372	0.36146	T	0.0357024520635605	0.02929	T	0.727127	0.34152	T	0.025595648	0.01516	0.035269886	0.02747	0.025595648	0.01516	0.035269886	0.02746	-5.06	0.37484	T	0.11624727004306265	0.10489	0.079	0.07272	B	.;.	.;.	0.882059	0.12550	9.082	0.91514712189660685	0.20790	0.03938	0.09333	N	AEFBI	0.243707	0.36494	N	-0.990339765773234	0.08809	0.4144772	-0.959261198235233	0.10708	0.5410898	0.999619138119039	0.40981	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.92	-0.415	0.11739	-0.238000	0.08995	0.195000	0.15787	-0.113000	0.14837	0.021000	0.19753	0.000000	0.08366	0.882000	0.42233	0.4304:0.0:0.5696:0.0	9.068	0.35637	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	591.83	33	chr12	132690316	.	G	A	591.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.113;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.381;SOR=0.646	GT:AD:DP:GQ:PL	0/1:32,27:59:99:602,0,754	5	0	1	0
chr13	19825016	19825016	A	G	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001142684:exon8:c.T1471C:p.S491P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00244905693269	9.7e-05	.	9.456e-05	0	0.0002	0	0	0.0001	0	6.396e-05	9.06e-05	14	154602	rs201812068	8.146e-05	6.977e-05	7.341e-05	8.966e-05	0.0007	6.819e-05	6.327e-05	0.0002	9.695e-05	3.802e-05	0.0002	5.923e-05	0	0	0.0007	7.129e-05	0.0002	0.0001	0.0001	0.0001	7.71e-05	0.0001	0.0004	6.512e-05	5.323e-05	7.293e-05	5.087e-05	0	0	0.0001	0.0003	0	0	0	0.0001	0.0010	0.0004	0.276	0.15717	T	0.308	0.19845	T	0.842	0.46562	P	0.1	0.30674	B	0.005613	0.32654	N	0.323197	1	0.08975	N	0.345	0.11182	N	2.13	0.19588	T	-1.17	0.29933	N	0.046	0.01825	-1.0043	0.28666	T	0.027	0.11751	T	10	0.070673585	0.10313	T	0.002449	0.04840	T	0.024	0.04979	.	.	0.0138822411134	0.00435	.	.	.	.	0.257537126541	0.04602	T	0.011589	0.14916	T	-0.519435	0.00443	T	-0.71948	0.04821	T	0.043981748819377	0.04417	T	0.251875	0.03822	T	0.0906185	0.21209	0.06722578	0.13879	0.0906185	0.21209	0.06722578	0.13879	-3.301	0.13750	T	.	.	0.069	0.03162	B	.;.	.;.	-0.635852	0.01477	0.091	0.3765111614522032	0.02494	0.00777	0.03195	N	AEFDBI	0.030256	0.03009	N	-1.47702608194445	0.02013	0.08844644	-1.68556720451351	0.01202	0.05413561	0.0045692570263823	0.10618	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	1.18	-2.09	0.06831	-0.389000	0.07401	-1.406000	0.05514	-4.912000	0.00018	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5544:0.0:0.4456:0.0	4.332	0.10508	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002068	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1154.83	37	chr13	19825016	.	A	G	1154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.262;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.35;SOR=0.682	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr13	20142421	20142421	C	T	exonic	GJA3	.	nonsynonymous SNV	GJA3:NM_021954:exon2:c.G868A:p.A290T	Cataract 14, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.718349891712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303726291	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.08483	T	0.182	0.29249	T	0.842	0.46562	P	0.196	0.36635	B	0.035475	0.01803	U	2.115620	0.585039	0.32407	D	1.845	0.48678	L	-1.64	0.82533	D	-1.05	0.27463	N	0.042	0.01498	-0.6314	0.63511	T	0.337	0.70379	T	10	0.26456702	0.43945	T	0.71835	0.97719	D	0.234	0.53644	0.355	0.35571	0.571483254199	0.56815	0.41800567713649955	0.41716	0.951642404872	0.72659	0.570982456207	0.48817	T	0.039422	0.25185	T	-0.0789273	0.39890	T	-0.35115	0.39072	T	0.305588603019714	0.25233	T	0.39866	0.10107	T	0.032549515	0.03302	0.06917602	0.14541	0.032549515	0.03302	0.06917602	0.14541	-4.747	0.33968	T	0.14806455686347395	0.17210	0.073	0.04599	B	.	.	0.628882	0.09975	6.728	0.98354022951196873	0.40578	0.33854	0.24928	N	AEFDBI	0.242672	0.36408	N	-0.621019597708456	0.18314	0.9497947	-0.718942425066962	0.16490	0.8725381	0.999988460628295	0.51787	0.59774	0.34471	0	0.610034	0.51514	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.41	2.66	0.30672	0.500000	0.22270	0.048000	0.13961	0.463000	0.21641	0.033000	0.20612	0.000000	0.08366	0.015000	0.10482	0.1525:0.6031:0.1604:0.084	4.559	0.11550	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	212.83	41	chr13	20142421	.	C	T	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.802;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.65;ReadPosRankSum=1.67;SOR=0.763	GT:AD:DP:GQ:PL	0/0:24,0:24:66:0,66,990	5	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.08333	2188.83	171	chr13	20189125	.	C	T	2188.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=387;ExcessHet=0;FS=3.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-2.249;SOR=0.764	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.003788	0.08333	1061.83	34	chr13	21155744	.	C	A	1061.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.795;DP=246;ExcessHet=0;FS=3.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.614;SOR=0.682	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1581	5	0	1	0
chr13	23659086	23659086	C	T	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204459:exon4:c.C86T:p.T29M,TNFRSF19:NM_001204458:exon6:c.C482T:p.T161M,TNFRSF19:NM_001354985:exon6:c.C482T:p.T161M,TNFRSF19:NM_018647:exon6:c.C482T:p.T161M,TNFRSF19:NM_148957:exon6:c.C482T:p.T161M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.011685078421	0.0002	.	7.472e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs139502219	5.063e-05	5.267e-05	5.446e-05	4.676e-05	3.687e-05	4.126e-05	3.779e-05	2.743e-05	2.468e-05	0	0	0.0010	0	1.88e-05	0	3.687e-05	9.935e-05	1.159e-05	9.194e-05	9.187e-05	8.995e-05	9.403e-05	0.0002	5.525e-05	4.362e-05	7.91e-05	5.995e-05	0	0	0	0.0009	0	0	0	0.0001	0	0.0002	0.005	0.65419	D	0.033	0.65728	D	1.0	0.90584	D	0.99	0.78936	D	0.000057	0.53742	D	0.198899	0.994659	0.42364	D	2.735	0.79925	M	1.99	0.21666	T	-2.59	0.65512	D	0.465	0.51583	-0.9904	0.32500	T	0.147	0.47219	T	10	0.1870454	0.34197	T	0.011685	0.29546	T	0.137	0.36984	.	.	0.344251166708	0.34027	0.5578449823845059	0.55711	0.483897842748	0.47323	0.469145029783	0.34563	T	0.722741	0.92177	D	-0.208146	0.19641	T	-0.35086	0.39107	T	0.588484588943067	0.35947	D	0.927407	0.73262	D	0.11074885	0.26174	0.15158053	0.35700	0.11074885	0.26174	0.15158053	0.35699	-7.094	0.54717	T	.	.	0.191	0.40984	B	.;.;.;.	.;.;.;.	4.545194	0.71481	25.7	0.99922305845920378	0.98852	0.98556	0.84054	D	AEFDBI	0.444928	0.50162	N	0.698232701191237	0.79516	7.094152	0.686630873588046	0.81363	7.509094	0.999999999939255	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	4.508000	0.60161	3.962000	0.40756	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.969000	0.54022	0.0:1.0:0.0:0.0	19.984	0.97341	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	931.83	63	chr13	23659086	.	C	T	931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=234;ExcessHet=0;FS=0.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-0.366;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1144	5	0	1	0
chr13	24321233	24321233	C	A	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.C467A:p.P156H,C1QTNF9:NM_178540:exon4:c.C467A:p.P156H,C1QTNF9:NM_001303137:exon5:c.C467A:p.P156H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.24551328678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.379e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.811e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.054	0.38633	T	0.027	0.55341	D	0.999	0.77913	D	0.993	0.81110	D	0.000005	0.62929	D	0.109676	0.99993	0.81001	D	1.975	0.53506	M	-2.28	0.87512	D	-2.98	0.62008	D	0.348	0.38950	0.262	0.86949	D	0.685	0.89121	D	9	0.52603954	0.62914	D	0.245513	0.88889	D	0.488	0.77592	0.412	0.44887	0.800752677042	0.79889	0.6508861261317139	0.65024	.	.	0.625718355179	0.56537	T	0.599164	0.87128	D	0.121418	0.66515	D	-0.0633678	0.66097	T	0.948267996311188	0.62857	D	0.794321	0.43637	T	0.38376608	0.59588	0.28586867	0.54592	0.38376608	0.59588	0.28586867	0.54591	-6.768	0.52321	T	.	.	0.135	0.29422	B	.;.	.;.	3.789396	0.54528	23.5	0.98957213183316428	0.49266	0.94950	0.62896	D	AEFDI	0.526346	0.54874	D	0.147336141463932	0.48686	3.077862	-0.00515996726282916	0.39482	2.341621	0.971459848848297	0.29288	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.96	3.11	0.34883	2.381000	0.43991	3.193000	0.36713	0.439000	0.21057	0.758000	0.29220	0.995000	0.32472	0.024000	0.12247	0.0:0.8019:0.0:0.1981	7.636	0.27435	851	0.35303	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	61.0	35	chr13	24321233	.	C	A	61.0	.	AC=2;AF=0.167;AN=12;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=30.39;QD=30.5;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:24321233_C_A:76,6,0:24321233	5	1	0	0
chr13	25097840	25097840	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G1642A:p.A548T	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00311820690249	0.0002	0.000399361	0.0004	0	0.0006	0	0	0.0001	0	0.0021	0.0003622	56	154602	rs144664628	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0014	0	0.0002	0.0002	0	0	0.0024	5.666e-05	0.0002	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0009	0	0	9.422e-05	0	8.821e-05	0.0005	0.0015	0.034	0.44029	D	0.022	0.57587	D	0.946	0.53363	P	0.741	0.55725	P	0.000270	0.46590	U	0.000000	0.999956	0.52396	D	2.73	0.79844	M	0.68	0.51952	T	-3.46	0.67705	D	0.377	0.41853	-0.6925	0.60792	T	0.214	0.57547	T	10	0.030691624	0.01198	T	0.003118	0.06786	T	0.195	0.47612	.	.	0.849862203633	0.84841	0.3689139773879063	0.36805	0.475443501588	0.46719	0.57855963707	0.49882	T	0.160812	0.50481	T	-0.115078	0.33930	T	-0.403078	0.33025	T	0.234807255499918	0.22179	T	0.922208	0.71716	D	0.53119737	0.68899	0.343417	0.60053	0.53119737	0.68900	0.343417	0.60053	-5.721	0.43880	T	.	.	0.096	0.15430	B	.	.	1.924661	0.24443	16.40	0.99442095276376274	0.64820	0.87212	0.46684	D	AEFDBI	0.280518	0.39432	N	0.195321122889574	0.50973	3.282513	-0.0171879914428716	0.38939	2.301353	0.904557029819873	0.26181	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.963000	0.75848	7.652000	0.63756	0.356000	0.20028	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	7.549	0.26951	929	0.16858	Polyadenylate-binding protein/Hyperplastic disc protein|Polyadenylate-binding protein/Hyperplastic disc protein	.	.	.	.	.	Likely benign	0	0	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	0.001082	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	1755.83	137	chr13	25097840	.	G	A	1755.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.47;DP=709;ExcessHet=0;FS=0.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.776;SOR=0.807	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,107,1800	5	0	1	0
chr13	25313698	25313698	C	G	exonic	NUP58	.	nonsynonymous SNV	NUP58:NM_001008564:exon4:c.C485G:p.A162G,NUP58:NM_014089:exon5:c.C521G:p.A174G	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00696796405771	0.0008	0.00139776	0.0005	0.0020	8.651e-05	0.0003	0	0.0004	0	0.0005	0.000511	79	154602	rs150394051	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0018	0.0002	0.0041	0.0002	0	0.0014	6.27e-05	0.0005	0.0003	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0001	0.0038	0.0002	0	0	0.0002	0.0009	0.0002	0.177	0.30515	T	0.744	0.20745	T	0.001	0.07471	B	0.0	0.08700	B	0.022559	0.26612	N	0.401211	0.853727	0.31351	N	.	.	.	1.42	0.49919	T	-0.27	0.15178	N	0.251	0.29313	-0.9222	0.45252	T	0.119	0.41799	T	10	0.007694006	0.00175	T	0.006968	0.18458	T	0.086	0.25016	.	.	0.537170616986	0.53368	0.6012586780583602	0.60056	0.326578704726	0.34803	0.346839815378	0.17455	T	0.00843	0.07741	T	-0.424912	0.01592	T	-0.390397	0.34506	T	0.00883578472236739	0.00109	T	0.740526	0.37241	T	0.10707253	0.25318	0.10730375	0.25829	0.10707253	0.25318	0.10730375	0.25828	-0.947	0.00942	T	.	.	0.096	0.20313	B	.;.;.;.;.	.;.;.;.;.	2.878950	0.38092	20.7	0.99218258527020542	0.55808	0.97041	0.72348	D	AEFBI	0.359126	0.44956	N	-0.118630834725553	0.36582	2.116455	0.0635071717060345	0.42729	2.589632	0.999985293289281	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.83	4.98	0.65679	4.162000	0.57962	3.299000	0.37367	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.874:0.126:0.0	17.179	0.86730	809	0.43032	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	638.83	34	chr13	25313698	.	C	G	638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.256;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.189;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	5	0	1	0
chr13	26046551	26046551	T	A	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.A850T:p.N284Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0220345973182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.048	0.48594	D	0.303	0.32643	B	0.172	0.35394	B	0.726064	0.09894	N	0.890348	1	0.08975	N	0.695	0.17993	N	0.85	0.47130	T	-0.4	0.13805	N	0.205	0.22742	-1.0006	0.29746	T	0.087	0.33718	T	10	0.085318	0.14392	T	0.022035	0.44885	T	0.035	0.08770	0.271	0.22052	0.104622674875	0.10061	0.24484370468038627	0.24398	0.628220077563	0.56899	0.346118330956	0.17349	T	0.062023	0.31806	T	-0.160938	0.26615	T	-0.468953	0.25630	T	0.220535272689395	0.21491	T	0.716728	0.32905	T	0.07985174	0.18265	0.078415826	0.17560	0.07985174	0.18265	0.078415826	0.17560	-2.593	0.06450	T	.	.	0.220	0.45011	B	.	.	2.006530	0.25495	16.78	0.9618138955506208	0.28960	0.44089	0.27242	N	AEFDBI	0.228800	0.35241	N	-0.654932771089314	0.17317	0.8900356	-0.662898836776341	0.17892	0.9533813	0.999997097490087	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.05	3.88	0.43959	1.781000	0.38274	2.835000	0.35045	0.665000	0.62972	0.009000	0.18154	0.234000	0.23804	0.686000	0.33718	0.0:0.1492:0.0:0.8508	9.402	0.37598	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1692.83	37	chr13	26046551	.	T	A	1692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.731;DP=287;ExcessHet=0;FS=1.562;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-1.457;SOR=0.899	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	5	0	1	0
chr13	27581392	27581392	A	T	exonic	LNX2	.	nonsynonymous SNV	LNX2:NM_153371:exon2:c.T312A:p.H104Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0029	0.00339457	0.0034	0.0007	0.0020	0.0001	0.0003	0.0028	0.0047	0.0118	0.0030789	476	154602	rs78036110	0.0036	0.0036	0.0033	0.0039	0.0108	0.0035	0.0035	0.0102	0.0100	0.0005	0.0013	0.0002	2.544e-05	0.0007	0.0026	0.0036	0.0031	0.0108	0.0022	0.0022	0.0021	0.0023	0.0128	0.0020	0.0019	0.0103	0.0094	0.0004	0	0.0012	0	0	0.0005	0	0.0033	0.0052	0.0128	0.234	0.18061	T	0.285	0.21343	T	0.255	0.31319	B	0.075	0.28327	B	0.000000	0.84330	D	0.047100	0.992138	0.41564	D	2.645	0.77386	M	3.53	0.04852	T	-0.08	0.08187	N	0.464	0.50056	-1.0309	0.20163	T	0.016	0.06329	T	10	0.0061876774	0.00139	T	.	.	.	0.155	0.40530	0.362	0.36711	0.379707525713	0.37584	0.5221008302474052	0.52133	1.65865075103	0.89645	0.691616415977	0.65938	T	0.01814	0.14677	T	-0.48714	0.00674	T	-0.463124	0.26260	T	0.0253505820473104	0.01319	T	0.79772	0.44184	T	0.41812468	0.61967	0.1727954	0.39561	0.41812468	0.61967	0.1727954	0.39560	-6.824	0.52737	T	.	.	0.325	0.56429	B	.;.	.;.	2.101171	0.26736	17.22	0.95580705661214393	0.27287	0.77272	0.37974	D	AEBI	0.125822	0.24249	N	-0.409541275731536	0.25133	1.362146	-0.382942115030746	0.25506	1.403045	0.938362011261574	0.27339	0.651	0.46895	0	0.487994	0.07600	2	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.06	-3.94	0.03856	0.437000	0.21261	1.614000	0.27651	0.756000	0.94297	0.993000	0.37899	0.999000	0.35428	0.995000	0.73285	0.4664:0.1083:0.4253:0.0	9.089	0.35762	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1931.83	119	chr13	27581392	.	A	T	1931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.84;DP=302;ExcessHet=0;FS=3.375;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=0.232;SOR=1.005	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	5	0	1	0
chr13	31274581	31274581	G	A	exonic	B3GLCT	.	nonsynonymous SNV	B3GLCT:NM_194318:exon9:c.G733A:p.V245M	Peters-plus syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	102523	Peters_plus_syndrome|not_provided|not_specified	MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	.	0.0053	0.00439297	0.0070	0.0014	0.0029	0	0.0026	0.0091	0.0099	0.0099	0.0068369	1057	154602	rs34830061	0.0070	0.0070	0.0069	0.0071	0.0121	0.0069	0.0068	0.0099	0.0090	0.0012	0.0032	0.0153	7.558e-05	0.0036	0.0121	0.0073	0.0066	0.0092	0.0050	0.0050	0.0051	0.0050	0.0097	0.0047	0.0046	0.0075	0.0067	0.0013	0.0208	0.0027	0.0193	0	0.0028	0.0034	0.0072	0.0071	0.0097	0.136	0.26085	T	0.106	0.37872	T	0.069	0.23796	B	0.009	0.14300	B	0.451778	0.12498	N	0.768332	1	0.08975	N	0.46	0.12951	N	-0.64	0.72125	T	0.14	0.05405	N	0.179	0.19325	-0.9055	0.47389	T	0.170	0.51052	T	10	0.0038720667	0.00073	T	.	.	.	0.061	0.17616	.	.	0.498513350342	0.49487	0.4227196399436346	0.42188	0.222872868779	0.24819	0.271227419376	0.06302	T	0.037088	0.24346	T	-0.501488	0.00561	T	-0.48588	0.23824	T	0.000223777613944911	0.00001	T	0.647135	0.25820	T	0.021001458	0.00681	0.027739998	0.00950	0.021001458	0.00681	0.027739998	0.00950	-4.006	0.23893	T	0.11511323578910222	0.10263	0.071	0.04002	B	.	.	0.603724	0.09722	6.491	0.91156191702256784	0.20411	0.04882	0.10625	N	AEFDBIJ	0.039290	0.05685	N	-0.785131843644018	0.13696	0.6766145	-0.833203669276532	0.13691	0.7116637	0.999959240786618	0.48110	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.62	1.84	0.24348	-0.220000	0.09220	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0753:0.1312:0.389:0.4045	4.173	0.09798	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010070	0.010101	0.005435	0.008772	0.000000	0.017241	0.015244	0.015152	0.1667	2567.04	34	chr13	31274581	.	G	A	2567.04	.	AC=2;AF=0.167;AN=12;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.6;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	5	1	0	0
chr13	35171273	35171273	C	T	exonic	NBEA	.	nonsynonymous SNV	NBEA:NM_001379245:exon25:c.C4235T:p.T1412M,NBEA:NM_001385012:exon26:c.C4244T:p.T1415M,NBEA:NM_015678:exon26:c.C4244T:p.T1415M	.	432	1086	4	0	0	4	0.00183824	0.0065	0.058	.	2813833	not_provided|NBEA-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00920038457388	0.0006	0.000399361	0.0008	0.0002	0.0025	0	0	0.0005	0	0.0017	0.0006339	98	154602	rs201205330	0.0006	0.0006	0.0006	0.0006	0.0018	0.0005	0.0005	0.0015	0.0013	6.047e-05	0.0018	3.887e-05	0	0.0001	0.0011	0.0005	0.0006	0.0016	0.0005	0.0005	0.0005	0.0004	0.0019	0.0004	0.0003	0.0010	0.0007	0.0002	0	0.0002	0	0	0	0	0.0007	0	0.0019	0.028	0.46129	D	0.18	0.43913	T	0.089	0.25085	B	0.007	0.16012	B	0.000004	0.62929	D	0.104768	0.988503	0.40776	D	1.04	0.26193	L	0.7	0.51474	T	-1.62	0.42957	N	0.353	0.39457	-1.0081	0.27510	T	0.112	0.40145	T	10	0.011654615	0.00298	T	0.009	0.24177	T	0.049	0.13647	.	.	0.082315109003	0.07666	0.5756835672972415	0.57497	0.286609179392	0.31053	0.768053889275	0.77133	T	0.183	0.53560	T	-0.452513	0.01091	T	-0.430043	0.29930	T	0.0196598496189053	0.00669	T	0.872513	0.71716	D	0.12861371	0.30062	0.1627584	0.37791	0.12861371	0.30062	0.1627584	0.37790	-6.482	0.50147	T	0.10605313297357434	0.08479	0.084	0.09530	B	.;.;.;.	.;.;.;.	4.393026	0.67818	25.1	0.96473609191300369	0.29946	0.95833	0.66349	D	AEFI	0.644391	0.62066	D	0.0121177794040695	0.42405	2.554428	0.19894044697837	0.49790	3.178003	0.563918644401705	0.21436	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	5.28	0.74118	2.878000	0.48213	4.889000	0.45745	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.257	0.93938	935	0.14827	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	882.06	31	chr13	35171273	.	C	T	882.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.707;DP=215;ExcessHet=0.4139;FS=16.512;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.73;SOR=0.091	GT:AD:DP:GQ:PL	0/1:23,10:33:99:234,0,618	4	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	157.15	143	chr13	38859428	.	G	C	157.15	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.469;DP=678;ExcessHet=0.4139;FS=228.055;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.96;SOR=10.236	GT:AD:DP:GQ:PL	0/1:90,32:132:14:14,0,1748	4	0	2	0
chr13	38878873	38878873	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon23:c.G8902A:p.V2968I	Fraser syndrome, Autosomal recessive	0	1482	38	2	0	42	0.0139721	.	.	.	192950	not_provided|FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Fraser_syndrome_1|not_specified	MedGen:C3661900|.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0102558500374	0.0048	0.000998403	0.0040	0.0009	0.0011	0.0001	0.0021	0.0055	0.0077	0.0046	0.0041591	643	154602	rs116099212	0.0061	0.0061	0.0061	0.0060	0.0070	0.0060	0.0059	0.0069	0.0069	0.0007	0.0015	7.653e-05	2.519e-05	0.0033	0.0028	0.0070	0.0049	0.0051	0.0037	0.0038	0.0037	0.0038	0.0067	0.0035	0.0034	0.0062	0.0060	0.0011	0	0.0020	0	0.0002	0.0016	0	0.0067	0.0038	0.0031	0.08	0.33585	T	0.206	0.27056	T	.	.	.	.	.	.	0.002338	0.36766	N	0.264885	0.993144	0.41849	D	.	.	.	-0.42	0.69536	T	-0.41	0.14000	N	0.652	0.66272	-1.0176	0.24495	T	0.117	0.41187	T	10	0.0065407753	0.00148	T	0.010256	0.26588	T	0.056	0.15993	.	.	0.426202426774	0.42236	0.14119275005712914	0.14042	0.0952479098463	0.10753	0.276971101761	0.07074	T	.	.	.	-0.477356	0.00766	T	-0.450503	0.27642	T	0.00287879507293326	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.329046	0.17341	13.11	0.92925960834785915	0.22489	0.89029	0.49255	D	AEFBI	0.180878	0.30819	N	-0.631734908366904	0.17996	0.9307912	-0.534714442032908	0.21212	1.146487	0.160449643237721	0.17584	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.631631	0.49550	0	.	.	5.84	1.17	0.19998	2.125000	0.41639	1.187000	0.24738	-0.113000	0.14837	1.000000	0.71638	0.912000	0.28152	0.982000	0.59238	0.3239:0.0:0.5553:0.1208	5.795	0.17643	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.011364	0.08333	1160.83	35	chr13	38878873	.	G	A	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.258;DP=266;ExcessHet=0;FS=2.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.412;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	5	0	1	0
chr13	39655845	39655845	A	G	exonic	COG6	.	nonsynonymous SNV	COG6:NM_001145079:exon1:c.A119G:p.H40R,COG6:NM_020751:exon1:c.A119G:p.H40R	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1031369	Inborn_genetic_diseases|COG6-congenital_disorder_of_glycosylation|Hypohidrosis-enamel_hypoplasia-palmoplantar_keratoderma-intellectual_disability_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013810,MedGen:C3553230,OMIM:614576,Orphanet:464443|MONDO:MONDO:0014131,MedGen:C3809160,OMIM:615328,Orphanet:363523	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0219749498029	7.7e-05	.	9.714e-05	0.0002	0.0004	0.0002	0	0	0	0.0002	5.17e-05	8	154602	rs148246113	2.613e-05	2.6e-05	2.325e-05	2.904e-05	0.0001	1.942e-05	1.701e-05	8.081e-05	6.302e-05	0	0.0001	0	2.536e-05	0	0	1.532e-05	3.337e-05	0.0001	2.625e-05	2.625e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.142	0.25457	T	0.498	0.11263	T	0.0	0.02946	B	0.0	0.01387	B	0.000184	0.48115	N	0.203652	0.987092	0.40534	D	1.59	0.40313	L	1.37	0.34253	T	-0.09	0.08340	N	0.077	0.12341	-1.0895	0.05616	T	0.045	0.19316	T	10	0.07580289	0.11763	T	0.021975	0.44819	T	0.075	0.21907	.	.	0.117506650769	0.11410	0.283169443793151	0.28229	0.0621865798848	0.06921	0.366268128157	0.20295	T	0.004276	0.40432	T	-0.350123	0.04720	T	-0.476276	0.24844	T	0.145387293282262	0.16731	T	0.80002	0.44558	T	0.15473598	0.35007	0.19188923	0.42672	0.15473598	0.35007	0.19188923	0.42671	-11.788	0.83802	D	0.06719033633330704	0.02345	0.128	0.33755	B	.;.;.	.;.;.	2.799107	0.36817	20.3	0.97470232005752522	0.34131	0.91351	0.53358	D	ALL	0.648059	0.62301	D	-0.34429090066593	0.27483	1.508164	-0.135615355392028	0.33966	1.948642	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.29	4.11	0.47350	5.405000	0.66094	3.536000	0.38979	0.658000	0.54486	1.000000	0.71638	0.994000	0.32194	0.921000	0.45669	0.9119:0.0:0.0881:0.0	9.383	0.37487	663	0.61610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	792.83	53	chr13	39655845	.	A	G	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.206;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.89;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,120,1800:.	5	0	1	0
chr13	41470479	41470479	T	G	exonic	RGCC	.	nonsynonymous SNV	RGCC:NM_014059:exon5:c.T408G:p.S136R	.	434	1087	1	0	0	1	0.00045977	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0167972644062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313568082	2.053e-06	2.052e-06	4.085e-06	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.015	0.61642	D	0.98	0.59353	D	0.711	0.54536	P	0.000000	0.84330	D	0.041945	0.999121	0.46125	D	2.25	0.63811	M	.	.	.	-3.19	0.64593	D	0.383	0.42443	-0.6750	0.61602	T	0.226	0.59070	T	9	0.23686495	0.40776	T	0.016797	0.38225	T	0.214	0.50650	0.258	0.20002	0.301122078929	0.29733	0.2549246940620098	0.25406	0.756635898776	0.64038	0.670550048351	0.62917	T	0.105736	0.41647	T	0.0212697	0.54554	T	-0.207224	0.53961	T	0.874912142753601	0.52478	D	0.411359	0.10665	T	0.48766646	0.66363	0.37145063	0.62374	0.48766646	0.66364	0.37145063	0.62374	-6.936	0.53566	T	.	.	0.691	0.72581	P	.	.	3.275776	0.44858	22.0	0.99562950512568416	0.71892	0.71199	0.34911	D	AEFDBCI	0.204946	0.33134	N	-0.084506928416323	0.38071	2.224266	-0.181488267034237	0.32217	1.830753	0.998586369604977	0.37247	0.67177	0.52595	0	0.53679	0.11191	0	0.408882	0.06424	0	0.711	0.71501	0	.	.	5.52	-1.43	0.08418	0.646000	0.24486	0.421000	0.18220	-0.144000	0.12334	1.000000	0.71638	0.999000	0.35428	0.840000	0.39645	0.0:0.4056:0.0:0.5944	9.633	0.38958	670	0.60992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	874.83	42	chr13	41470479	.	T	G	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.168;DP=277;ExcessHet=0;FS=7.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.365;SOR=0.567	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr13	41960973	41960973	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon1:c.G43A:p.G15S,VWA8:NM_015058:exon1:c.G43A:p.G15S	.	416	1105	1	0	0	1	0.000452284	.	.	.	2378284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0362981337653	.	0.000199681	0.0009	0	0	0	.	0	0	0.0012	5.17e-05	8	154602	rs543752211	8.376e-05	9.508e-05	6.901e-05	9.915e-05	0.0006	7.073e-05	6.544e-05	0.0005	0.0004	0	5.203e-05	0	0	0	0.0005	5.037e-05	0.0002	0.0006	5.267e-05	5.255e-05	2.575e-05	8.085e-05	0.0008	2.562e-05	1.833e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.885e-05	0	0.0008	0.123	0.27783	T	0.273	0.24334	T	0.002	0.09854	B	0.001	0.04355	B	0.115061	0.19250	N	0.380135	1	0.19694	N	0.69	0.16971	N	2.99	0.11189	T	-0.29	0.11728	N	0.182	0.22098	-0.9365	0.43164	T	0.011	0.04227	T	9	0.0149948895	0.00315	T	0.036298	0.56900	D	0.021	0.04004	0.138	0.04187	0.0138822411134	0.00435	0.5241238916073064	0.52336	0.05544687542	0.06136	0.787502706051	0.80063	T	0.01363	0.11757	T	-0.497982	0.00587	T	-0.545868	0.17725	T	0.0339001949536185	0.02621	T	0.686031	0.29438	T	0.039814997	0.05566	0.080718875	0.18285	0.039814997	0.05566	0.080718875	0.18284	-4.465	0.30428	T	.	.	0.118	0.24260	B	.;.	.;.	1.753376	0.22303	15.57	0.89693248801926118	0.19018	0.12979	0.17593	N	ALL	0.051487	0.09100	N	-1.15828611943011	0.05645	0.257873	-1.1245828515336	0.07233	0.351031	0.999999999997828	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.11	2.33	0.27981	0.127000	0.15617	-0.038000	0.12706	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.686:0.2029:0.1111	5.562	0.16437	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	189.83	14	chr13	41960973	.	C	T	189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=100;ExcessHet=0;FS=5.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.251;SOR=2.303	GT:AD:DP:GQ:PL	0/0:11,0:11:27:0,27,405	5	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,36:104:99:0|1:42303097_G_C:350,0,1635:42303097	1	0	5	0
chr13	44575588	44575588	T	C	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.A487G:p.T163A,TSC22D1:NM_183422:exon1:c.A487G:p.T163A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0089068379871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	2.052e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.137e-05	2.538e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.077	0.51737	T	0.473	0.36591	P	0.091	0.29943	B	0.000032	0.55875	D	0.000000	0.877543	0.35684	D	1.04	0.26193	L	1.89	0.23688	T	-3.12	0.63782	D	0.405	0.50778	-0.9944	0.31459	T	0.057	0.23828	T	10	0.27201664	0.44743	T	0.008907	0.23487	T	0.104	0.29647	0.094	0.01195	0.102598925029	0.09809	0.44049624143025085	0.43966	0.41328724842	0.42041	0.63636803627	0.58048	T	0.580217	0.86242	D	-0.201847	0.20537	T	-0.527716	0.19515	T	0.970675647258759	0.69035	D	0.835216	0.50504	T	0.4204596	0.62122	0.43167654	0.66778	0.4204596	0.62123	0.43167654	0.66778	-9.781	0.72589	D	.	.	0.407	0.59992	A	.;.	.;.	4.531457	0.71134	25.6	0.99645077745843169	0.76943	0.77694	0.38231	D	AEFDBCIJ	0.666138	0.63470	D	0.194900403804477	0.50955	3.280676	0.284035049454627	0.54608	3.625185	0.99999987796852	0.74766	0.627647	0.40530	0	0.706955	0.78570	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.5	4.5	0.54382	6.224000	0.72210	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.769	0.56785	920	0.19381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2051.04	34	chr13	44575588	.	T	C	2051.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.62;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1130	5	1	0	0
chr13	45541572	45541572	G	A	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon15:c.C1981T:p.L661F	.	435	1060	24	3	0	30	0.0139535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0059	0.00319489	0.0068	0.0009	0.0098	0	0.0012	0.0131	0.0041	0.0027	0.0020763	321	154602	rs118131230	0.0060	0.0058	0.0060	0.0060	0.0249	0.0059	0.0059	0.0216	0.0203	0.0010	0.0056	0.0304	0	0.0021	0.0249	0.0061	0.0065	0.0031	0.0053	0.0052	0.0057	0.0048	0.0096	0.0050	0.0048	0.0084	0.0079	0.0014	0.0208	0.0096	0.0277	0	0.0005	0.0136	0.0062	0.0104	0.0046	0.012	0.54683	D	0.039	0.51112	D	0.958	0.54977	D	0.74	0.55692	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.7	0.12162	T	-1.52	0.36980	N	0.029	0.00666	-1.0064	0.28034	T	0.017	0.06998	T	9	0.0059939027	0.00134	T	.	.	.	0.143	0.38195	.	.	0.0138822411134	0.00435	0.06028303386795886	0.05968	.	.	0.34393966198	0.17026	T	0.012169	0.10741	T	-0.629699	0.00096	T	-0.67329	0.07399	T	0.0277630436079749	0.01654	T	0.415458	0.10884	T	0.0994786	0.23479	0.09321838	0.22008	0.0994786	0.23478	0.09321838	0.22007	-6.045	0.46654	T	.	.	0.176	0.38462	B	.	.	0.570962	0.09394	6.175	0.96452178420449319	0.29869	0.01569	0.05125	N	AEFDBI	0.051998	0.09241	N	-1.19097024255193	0.05136	0.2334203	-1.40265345314207	0.03225	0.1500218	0.999900077794579	0.45458	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-7.05	0.01418	-0.978000	0.03888	-0.717000	0.07722	-0.923000	0.02187	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2412:0.511:0.2478	7.489	0.26617	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019370	0.010526	0.059701	0.022321	0.000000	0.041667	0.011765	0.000000	0.08333	472.83	37	chr13	45541572	.	G	A	472.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.812;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-1.084;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	5	0	1	0
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014963	0.026596	0.009091	0.030702	0.000000	0.045455	0.000000	0.000000	0.08333	1016.83	36	chr13	45549921	.	T	C	1016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=267;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.976;SOR=0.481	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1027,0,988	5	0	1	0
chr13	45968948	45968948	C	T	exonic	ZC3H13	.	nonsynonymous SNV	ZC3H13:NM_001382214:exon11:c.G3095A:p.R1032H,ZC3H13:NM_001076788:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330564:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330565:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330567:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382207:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382208:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001382210:exon14:c.G3596A:p.R1199H,ZC3H13:NM_015070:exon14:c.G3596A:p.R1199H,ZC3H13:NM_001330566:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382206:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382209:exon15:c.G3596A:p.R1199H,ZC3H13:NM_001382211:exon15:c.G3680A:p.R1227H,ZC3H13:NM_001382212:exon15:c.G3680A:p.R1227H,ZC3H13:NM_001382213:exon15:c.G3680A:p.R1227H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0117972233931	.	.	0.0001	0	0	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs755691752	9.85e-05	9.919e-05	0.0001	9.213e-05	0.0031	8.511e-05	7.981e-05	0.0020	0.0017	0	8.944e-05	0	5.038e-05	0	0.0031	8.993e-05	9.934e-05	0.0002	7.884e-05	7.88e-05	0.0001	5.381e-05	0.0001	4.496e-05	3.512e-05	7.907e-05	5.993e-05	0	0	6.545e-05	0	0	0	0	0.0001	0.0005	0	0.006	0.65419	D	0.329	0.18732	T	0.835	0.46254	P	0.096	0.36635	B	0.000038	0.55875	D	0.000000	0.994098	0.48270	D	1.5	0.37844	L	2.42	0.33189	T	-1.16	0.29727	N	0.418	0.45803	-1.0993	0.04177	T	0.051	0.21495	T	10	0.132943	0.25302	T	0.011797	0.29782	T	0.119	0.33137	0.206	0.12216	0.0934897674506	0.08844	0.15033481653800987	0.14955	0.427248383646	0.43073	.	.	.	0.011043	0.09905	T	-0.254685	0.13530	T	-0.311465	0.43502	T	0.0567163681261978	0.06641	T	0.80032	0.44603	T	0.11735209	0.27666	0.08528229	0.19679	0.11735209	0.27666	0.08528229	0.19678	-4.863	0.38128	T	.	.	0.336	0.56258	B	.;.	.;.	5.160472	0.86467	28.9	0.99858934175971492	0.93729	0.95051	0.63259	D	AEFBI	0.376418	0.46057	N	0.258626216865516	0.54067	3.573264	0.382155839163605	0.60464	4.234356	0.999235778477	0.38840	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	3.531000	0.53302	7.660000	0.64180	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.235	0.73115	677	0.60274	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1315.83	34	chr13	45968948	.	C	T	1315.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.263;DP=269;ExcessHet=0;FS=14.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.172;SOR=0.572	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr13	46343446	46343446	C	G	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.G1774C:p.G592R,RUBCNL:NM_001286766:exon13:c.G1283C:p.R428P,RUBCNL:NM_001286764:exon14:c.G1523C:p.R508P,RUBCNL:NM_001286765:exon14:c.G1457C:p.R486P,RUBCNL:NM_001349772:exon14:c.G1928C:p.R643P,RUBCNL:NM_001286761:exon15:c.G1928C:p.R643P,RUBCNL:NM_001286763:exon15:c.G1727C:p.R576P,RUBCNL:NM_025113:exon15:c.G1928C:p.R643P	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.227258518346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297164782	6.842e-06	6.84e-06	5.445e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.024	0.58089	D	0.998	0.90584	D	0.992	0.80445	D	.	.	.	.	0.505035	0.81001	D	.	.	.	0.7	0.51474	T	-4.55	0.83027	D	0.497	0.59563	-0.5455	0.66956	T	0.277	0.64875	T	9	0.62551105	0.68219	D	0.227259	0.88082	D	0.341	0.66297	0.485	0.56780	0.390531646278	0.38663	0.8945300845186224	0.89424	0.215774892835	0.24110	0.416441738605	0.27347	T	0.198377	0.55534	T	-0.0672852	0.41760	T	-0.0977585	0.63570	T	0.470695044801152	0.31557	T	0.89921	0.65583	D	0.6085781	0.73152	0.61522907	0.77604	0.6085781	0.73153	0.61522907	0.77605	-11.543	0.83466	D	.	.	0.898	0.85512	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.430320	0.68699	25.3	0.99285952317960202	0.58078	0.70624	0.34667	D	AEFBCI	0.658566	0.62979	D	0.264332412206489	0.54351	3.600926	0.151937686969784	0.47246	2.957635	0.999943194839993	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.55	3.8	0.42887	1.294000	0.32971	3.849000	0.40079	-0.188000	0.09543	0.936000	0.32490	0.999000	0.35428	0.083000	0.17415	0.0:0.6286:0.1616:0.2098	5.558	0.16412	906	0.23090	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;.;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1238.83	34	chr13	46343446	.	C	G	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=268;ExcessHet=0;FS=0.816;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.037;SOR=0.564	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1249,0,1006	5	0	1	0
chr13	46372316	46372316	T	C	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon2:c.A160G:p.I54V,RUBCNL:NM_001349772:exon2:c.A160G:p.I54V,RUBCNL:NM_001286761:exon3:c.A160G:p.I54V,RUBCNL:NM_025113:exon3:c.A160G:p.I54V	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00696761663904	0.0004	0.000599042	0.0007	0.0002	0.0008	0	0	0.0005	0.0011	0.0025	0.0005757	89	154602	rs141876988	0.0004	0.0004	0.0003	0.0004	0.0102	0.0004	0.0003	0.0081	0.0074	0.0001	0.0008	0.0042	0	0	0.0102	0.0001	0.0007	0.0019	0.0005	0.0005	0.0004	0.0006	0.0033	0.0004	0.0004	0.0021	0.0017	9.625e-05	0	0.0015	0.0052	0	0	0.0102	0.0001	0.0024	0.0033	0.334	0.32929	T	0.778	0.07919	T	0.022	0.20876	B	0.011	0.20255	B	0.034142	0.24806	N	0.344393	1	0.81001	D	.	.	.	0.67	0.56937	T	-0.29	0.23156	N	0.06	0.03726	-1.0389	0.17648	T	0.085	0.33128	T	10	0.008388102	0.00190	T	0.006968	0.18458	T	0.028	0.06331	.	.	0.0666544352282	0.05500	0.0644000911862818	0.06379	0.0288044555804	0.02965	0.341280758381	0.16630	T	0.005824	0.05268	T	-0.53593	0.00354	T	-0.549079	0.17414	T	0.0130972660668552	0.00230	T	0.623938	0.25039	T	0.09303918	0.21842	0.033862174	0.02353	0.09303918	0.21842	0.033862174	0.02353	-2.938	0.09528	T	.	.	0.111	0.51815	B	.;.;.;.	.;.;.;.	0.432734	0.08032	4.751	0.89859391489497698	0.19165	0.54124	0.29539	D	AEFBI	.	.	.	-0.670867271364893	0.16855	0.8624038	-0.591687659017384	0.19709	1.058648	0.999579576148309	0.40495	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.57	-0.0406	0.13199	0.095000	0.14966	-0.063000	0.12399	0.665000	0.62972	0.995000	0.38783	0.884000	0.27742	0.129000	0.19529	0.0:0.176:0.3283:0.4957	4.444	0.11011	913	0.21160	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.008152	0.020468	0.050000	0.000000	0.000000	0.003788	0.1667	3608.04	106	chr13	46372316	.	T	C	3608.04	.	AC=2;AF=0.167;AN=12;DP=307;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.04;SOR=0.896	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	1	0	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	111.06	73	chr13	48459808	.	T	C	111.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.727;DP=395;ExcessHet=0.4139;FS=123.222;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.184;SOR=7.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1254	4	0	2	0
chr13	48477385	48477385	G	T	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon26:c.G2694T:p.Q898H	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	2	1519	1	0	0	1	0.000329056	.	.	.	463700	Malignant_tumor_of_urinary_bladder|Retinoblastoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0289570853398	.	.	1.749e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757275103	4.807e-06	4.789e-06	2.735e-06	6.899e-06	8.132e-05	2e-06	1.29e-06	3.772e-05	2.666e-05	0	0	0	0	0	0	0	0	8.132e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.195	0.28032	T	0.15	0.27995	B	0.134	0.33146	B	0.000722	0.42129	D	0.209202	0.599486	0.30952	N	0.755	0.19153	N	-1.39	0.80387	T	-1.01	0.26639	N	0.209	0.23253	-0.8140	0.54306	T	0.234	0.60075	T	10	0.1258696	0.23923	T	0.028957	0.51551	D	0.131	0.35738	0.444	0.50139	0.7378913793	0.73554	0.2456209694075643	0.24476	0.723459180675	0.62336	0.62892127037	0.56991	T	0.425313	0.77547	T	-0.2138	0.18848	T	-0.363358	0.37662	T	0.106003314256668	0.13005	T	0.80432	0.45191	T	0.05915922	0.11989	0.054509163	0.09390	0.05915922	0.11988	0.054509163	0.09390	-5.312	0.40062	T	.	.	0.429	0.61151	A	.;.	.;.	1.326333	0.17311	13.09	0.95432419462589146	0.26927	0.52540	0.29156	D	AEFDGBHCI	0.409576	0.48080	N	-0.705844961585747	0.15857	0.8028739	-0.605690973366811	0.19346	1.037575	0.99990251090817	0.45458	0.75658	0.98901	0	0.858454	0.99946	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.11	-0.334	0.12038	0.103000	0.15128	0.253000	0.16451	-0.116000	0.14526	0.936000	0.32490	0.284000	0.24125	0.928000	0.46473	0.5119:0.1407:0.3475:0.0	5.657	0.16922	717	0.55835	Retinoblastoma-associated protein, C-terminal|Retinoblastoma-associated protein, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	726.83	32	chr13	48477385	.	G	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.789;DP=222;ExcessHet=0;FS=1.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.986;SOR=0.754	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,982	5	0	1	0
chr13	49220340	49220340	G	A	exonic	MLNR	.	startloss	MLNR:NM_001507:exon1:c.G3A:p.M1?	.	433	1058	29	2	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	.	0.00479233	0	0	.	0	.	0	0	0	0.0006404	99	154602	rs372763744	0.0062	0.0056	0.0058	0.0066	0.0177	0.0060	0.0060	0.0168	0.0164	0.0007	0.0085	0.0036	0.0001	0.0089	0.0117	0.0057	0.0070	0.0177	0.0048	0.0048	0.0052	0.0045	0.0156	0.0045	0.0044	0.0128	0.0117	0.0008	0	0.0064	0.0035	0	0.0068	0.0276	0.0062	0.0071	0.0156	0.02	0.49613	D	0.148	0.32675	T	0.963	0.55692	D	0.549	0.49194	P	0.000765	0.41888	U	0.104565	0.999962	0.52935	D	.	.	.	-0.36	0.68754	T	-1.02	0.26843	N	0.783	0.77978	-0.3234	0.74327	T	0.335	0.70182	T	9	0.015151739	0.00318	T	.	.	.	0.420	0.72930	0.977	0.99785	0.847761603604	0.84629	0.4019045423288962	0.40106	.	.	.	.	.	0.026416	0.19553	T	-0.167037	0.25684	T	0.00354358	0.70565	D	0.0671573362189728	0.08246	T	0.9	0.65058	D	0.61442816	0.73465	0.45621848	0.68392	0.61442816	0.73466	0.45621848	0.68392	-9.405	0.70266	D	.	.	.	.	.	.	.	2.523876	0.32617	19.10	0.98712100844934947	0.45069	0.76434	0.37486	D	AEFDBHCIJ	0.017900	0.00502	N	0.176614935791642	0.50078	3.201316	0.135532556535436	0.46379	2.884915	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	4.34	0.51267	0.962000	0.28877	6.214000	0.55048	0.582000	0.30178	0.817000	0.29947	1.000000	0.68203	0.028000	0.12845	0.0:0.0:1.0:0.0	13.991	0.63881	660	0.61921	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011905	0.1667	861.05	24	chr13	49220340	.	G	A	861.05	.	AC=2;AF=0.167;AN=12;DP=107;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.19;SOR=4.977	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,593	5	1	0	0
chr13	49630512	49630512	C	T	exonic	ARL11	.	nonsynonymous SNV	ARL11:NM_138450:exon2:c.C65T:p.S22L	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0355520124619	0.0005	0.00119808	0.0002	0.0011	0.0006	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs147389782	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0.0002	0	7.557e-05	0	0.0002	0.0002	0.0005	2.319e-05	0.0005	0.0005	0.0005	0.0005	0.0013	0.0004	0.0004	0.0009	0.0007	0.0009	0	0.0013	0	0.0002	0	0	0.0002	0.0014	0	0.115	0.28520	T	0.201	0.27503	T	0.008	0.14655	B	0.012	0.16012	B	0.025374	0.26100	N	0.380209	0.977281	0.25322	N	1.04	0.26193	L	-1.66	0.82715	D	-3.61	0.69477	D	0.103	0.08646	-0.5770	0.65736	T	0.388	0.74268	T	10	0.018146217	0.00392	T	0.035552	0.56423	D	0.137	0.36984	.	.	0.834768861439	0.83319	0.5944531154528	0.59375	0.138887644583	0.15665	0.381043791771	0.22404	T	0.067553	0.33232	T	-0.380195	0.03107	T	-0.354279	0.38715	T	0.0061764401909781	0.00068	T	0.790621	0.43132	T	0.055327956	0.10739	0.0841555	0.19337	0.055327956	0.10738	0.0841555	0.19337	-6.048	0.46679	T	.	.	0.183	0.39664	B	.	.	0.585865	0.09544	6.319	0.92158612121770689	0.21520	0.12846	0.17514	N	AEFBCI	0.116667	0.22888	N	-0.880783240820179	0.11301	0.544608	-0.936208587335492	0.11244	0.5716414	0.999680419922664	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.601832	0.32385	0	0.620204	0.46100	0	.	.	5.09	1.38	0.21262	0.001000	0.12940	0.040000	0.13855	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.1353:0.4125:0.1319:0.3203	1.523	0.02367	414	0.81871	Small GTP-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	797.83	33	chr13	49630512	.	C	T	797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=240;ExcessHet=0;FS=2.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.99;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	5	0	1	0
chr13	51816810	51816810	G	T	exonic	TMEM272	.	nonsynonymous SNV	TMEM272:NM_001351006:exon3:c.C307A:p.L103M,TMEM272:NM_001351005:exon4:c.C274A:p.L92M,TMEM272:NM_001351003:exon5:c.C505A:p.L169M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17271072	0.32059	T	.	.	.	.	.	.	.	.	.	0.051117184810560004	0.05053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358964	0.08219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.	.	2.288814	0.29275	18.07	0.68002226704289603	0.08525	0.31764	0.24419	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999976183753122	0.50053	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.075334	0.01956	0	0.0786194	0.18004	4.25	2.1	0.26226	1.962000	0.40066	3.122000	0.36404	0.596000	0.33519	0.282000	0.25160	0.233000	0.23797	0.231000	0.22761	0.4864:0.0:0.5136:0.0	3.851	0.08463	861	0.33516	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	30.11	6	chr13	51816810	.	G	T	30.11	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	3	0	1	2
chr13	52030581	52030581	A	T	exonic	UTP14C	.	nonsynonymous SNV	UTP14C:NM_021645:exon2:c.A1777T:p.M593L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00116321733576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03663	T	0.738	0.05018	T	0.001	0.07471	B	0.006	0.12133	B	0.009416	0.30373	N	0.417664	0.53421	0.31465	N	0.535	0.13693	N	2.73	0.11839	T	-0.17	0.09627	N	0.25	0.28264	-1.0002	0.29860	T	0.016	0.06521	T	9	0.055054605	0.05957	T	0.001163	0.01459	T	0.016	0.02506	0.454	0.51775	0.223146558224	0.21909	0.22648224736011335	0.22563	0.0719151048525	0.08059	0.363549977541	0.19902	T	0.003077	0.02473	T	-0.216275	0.18504	T	-0.54844	0.17476	T	0.0577853694558144	0.06815	T	0.878412	0.59357	D	0.051552743	0.09483	0.04597765	0.06306	0.051552743	0.09482	0.04597765	0.06306	-3.212	0.12628	T	.	.	0.125	0.26325	B	.	.	1.537712	0.19722	14.41	0.90010348218005121	0.19300	0.36393	0.25523	N	AEFDBCI	0.079605	0.16082	N	-0.589981697328776	0.19248	1.005879	-0.473934389445712	0.22875	1.244648	0.0582973966213139	0.15122	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.9	1.47	0.21832	1.215000	0.32035	1.160000	0.24546	0.665000	0.62972	1.000000	0.71638	0.003000	0.18671	0.980000	0.58198	0.778:0.0:0.222:0.0	5.166	0.14414	593	0.68665	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1300.83	38	chr13	52030581	.	A	T	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.257;DP=295;ExcessHet=0;FS=0.749;MLEAC=1;MLEAF=0.083;MQ=58.34;MQRankSum=-0.155;QD=13.14;ReadPosRankSum=-2.784;SOR=0.813	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr13	52135824	52135824	T	A	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon13:c.A1163T:p.K388M,NEK3:NM_002498:exon14:c.A1214T:p.K405M,NEK3:NM_152720:exon14:c.A1214T:p.K405M	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0231157293941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000014	0.62929	D	0.149020	0.70393	0.30077	N	2.76	0.80626	M	.	.	.	.	.	.	0.435	0.48504	-0.0643	0.80902	T	0.539	0.82965	D	10	0.52444464	0.62828	D	0.023116	0.46062	T	.	.	.	.	0.391000631824	0.38715	0.552179138133198	0.55143	.	.	0.415255129337	0.27183	T	0.061775	0.31743	T	-0.0010328	0.51512	T	-0.23926	0.50871	T	0.956467071410308	0.64763	D	0.850615	0.56452	D	0.12704182	0.29739	0.10138486	0.24268	0.12704182	0.29739	0.10138486	0.24267	-5.587	0.45435	T	.	.	0.349	0.56514	A	.;.;.;.	.;.;.;.	3.544833	0.49806	22.8	0.99503388059387932	0.68147	0.86873	0.46251	D	AEFBI	0.225509	0.34959	N	0.272349445166862	0.54752	3.640055	0.157560897882457	0.47544	2.983048	0.839878502930899	0.24847	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	1.46	0.21769	1.253000	0.32488	2.202000	0.31296	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.0:0.2239:0.0:0.7761	8.712	0.33552	726	0.54788	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	934.83	33	chr13	52135824	.	T	A	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.328;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.403;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	5	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L,DIAPH3:NM_030932:exon10:c.C998T:p.P333L,DIAPH3:NM_001258367:exon14:c.C1649T:p.P550L,DIAPH3:NM_001258368:exon14:c.C1577T:p.P526L,DIAPH3:NM_001258366:exon15:c.C1754T:p.P585L,DIAPH3:NM_001042517:exon16:c.C1787T:p.P596L,DIAPH3:NM_001258369:exon16:c.C1787T:p.P596L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	504315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	908	0.22609	.;.;.;.;.;.;.	.	.	.	.	.	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	0.012601	0.000000	0.010870	0.011696	0.050000	0.000000	0.021472	0.018939	0.08333	399.83	35	chr13	59971024	.	G	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.06;DP=211;ExcessHet=0;FS=2.943;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.202;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	5	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	490.96	102	chr13	69882456	.	G	A	490.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.995;DP=617;ExcessHet=3.1439;FS=210.877;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.597;SOR=10.694	GT:AD:DP:GQ:PL	0/1:63,50:113:99:220,0,925	2	0	4	0
chr13	71489056	71489056	A	G	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_004392:exon3:c.T1057C:p.S353P,DACH1:NM_080760:exon4:c.T1219C:p.S407P,DACH1:NM_080759:exon7:c.T1663C:p.S555P,DACH1:NM_001366712:exon8:c.T1819C:p.S607P	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00429439363154	0.0007	.	0.0008	0.0001	0.0006	0	0	0.0010	0.0044	0.0011	0.0006986	108	154602	rs199546133	0.0005	0.0005	0.0005	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0.0002	0.0010	0.0041	0	0	0.0068	0.0004	0.0014	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0001	0.0011	0.0014	0.0032	0	9.434e-05	0.0068	0.0006	0.0014	0.0008	.	.	.	0.136	0.35970	T	0.12	0.26678	B	0.047	0.24832	B	0.000001	0.62929	N	0.059502	0.999996	0.58761	D	.	.	.	.	.	.	.	.	.	0.401	0.79022	-1.0050	0.28457	T	0.079	0.31314	T	10	0.012323052	0.00265	T	0.004294	0.10404	T	.	.	.	.	0.0675242888579	0.06100	0.8185780371334843	0.81814	.	.	0.805096030235	0.82739	D	.	.	.	-0.0947545	0.37290	T	0.0406745	0.72971	D	0.0401901627869894	0.03725	T	0.70483	0.31518	T	0.3478821	0.56901	0.4192196	0.65922	0.3478821	0.56902	0.4192196	0.65923	-10.107	0.74550	D	.	.	0.114	0.22537	B	.;.;.;.	.;.;.;.	3.097411	0.41726	21.4	0.99508693225757616	0.68499	0.94465	0.61253	D	AEFI	0.909504	0.86623	D	-0.0712733207485795	0.38657	2.267412	0.0668463055004484	0.42895	2.602562	0.180185007941854	0.17861	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.11	3.93	0.44666	5.720000	0.68118	8.067000	0.76424	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9256:0.0:0.0744:0.0	10.885	0.46172	965	0.07246	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.005051	0.004076	0.005848	0.000000	0.008621	0.009202	0.003788	0.08333	372.83	37	chr13	71489056	.	A	G	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.764;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.753;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	5	0	1	0
chr13	72747026	72747026	T	C	exonic	BORA	.	nonsynonymous SNV	BORA:NM_001366664:exon8:c.T1244C:p.I415T,BORA:NM_001286747:exon9:c.T1187C:p.I396T,BORA:NM_001286746:exon10:c.T1397C:p.I466T,BORA:NM_024808:exon10:c.T1397C:p.I466T	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0216236484094	0.0002	.	4.97e-05	0	0	0.0001	0	5.995e-05	0.0011	0	3.88e-05	6	154602	rs376758174	6.294e-05	6.293e-05	7.079e-05	5.501e-05	0.0003	5.228e-05	4.846e-05	8.862e-05	6.428e-05	2.988e-05	0.0002	0	2.519e-05	0	0.0003	6.565e-05	0.0001	0	6.57e-05	6.567e-05	7.707e-05	5.379e-05	8.819e-05	3.516e-05	2.616e-05	3.761e-05	2.575e-05	4.824e-05	0	6.545e-05	0	0	0	0	8.819e-05	0.0005	0	0.007	0.59928	D	0.08	0.44106	T	0.959	0.55135	D	0.647	0.52336	P	0.000741	0.42129	D	0.291664	0.992289	0.41604	D	.	.	.	0.59	0.53943	T	-1.65	0.39503	N	0.716	0.76296	-0.6519	0.62631	T	0.228	0.59346	T	10	0.6738906	0.70875	D	0.021624	0.44424	T	0.059	0.16972	.	.	0.754186001081	0.75195	0.5923435582254347	0.59164	0.841208887519	0.68079	0.650505721569	0.60058	T	0.073221	0.35474	T	-0.0775401	0.40114	T	-0.152186	0.59050	T	0.126150027795523	0.15022	T	0.89951	0.64815	D	.	.	.	.	.	.	.	.	-2.32	0.04666	T	.	.	0.356	0.56990	A	.;.;.	.;.;.	2.636895	0.34303	19.59	0.99371013469582936	0.61455	0.95508	0.65000	D	AEFGBI	0.400239	0.47520	N	0.374165814204146	0.60026	4.18721	0.409221338544907	0.62139	4.424381	0.999998941178464	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	3.212000	0.50847	4.826000	0.45158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	14.891	0.70247	930	0.16408	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1582.83	110	chr13	72747026	.	T	C	1582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=288;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.48;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	5	0	1	0
chr13	72760551	72760551	C	T	exonic	DIS3	.	nonsynonymous SNV	DIS3:NM_001322348:exon19:c.G2402A:p.R801Q,DIS3:NM_001128226:exon20:c.G2681A:p.R894Q,DIS3:NM_014953:exon20:c.G2771A:p.R924Q,DIS3:NM_001322349:exon21:c.G2285A:p.R762Q	.	.	.	.	.	.	.	.	.	.	.	4130283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0129278433126	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs762557093	3.422e-06	3.42e-06	4.085e-06	2.751e-06	2.989e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	2.524e-05	0	0	2.699e-06	0	0	1.315e-05	1.314e-05	2.571e-05	0	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.607	0.06049	T	0.67	0.07816	T	0.376	0.40395	B	0.057	0.32387	B	0.000001	0.62929	D	0.057722	0.999995	0.58761	D	1.77	0.45869	L	1.97	0.22067	T	-0.78	0.21644	N	0.245	0.31702	-1.0967	0.04514	T	0.038	0.16462	T	10	0.17346686	0.32174	T	0.012928	0.31926	T	0.088	0.25558	0.487	0.57098	0.32471235697	0.32085	0.6930185785301365	0.69241	0.154777791857	0.17480	0.459328114986	0.33218	T	0.008321	0.09890	T	-0.285865	0.10055	T	-0.479273	0.24524	T	0.363957080411684	0.27563	T	0.949505	0.80559	D	0.16061103	0.36013	0.16256398	0.37756	0.16061103	0.36013	0.16256398	0.37755	-2.836	0.08520	T	0.10107665430532256	0.07531	0.105	0.30211	B	.;.;.	.;.;.	3.458935	0.48198	22.6	0.97451408330130807	0.34033	0.97430	0.74700	D	AEFGBI	0.642974	0.61975	D	0.0223856155532419	0.42874	2.591576	0.164992516396101	0.47943	3.016999	0.999999968074088	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	4.95	0.64894	4.461000	0.59851	5.947000	0.51581	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9316:0.0:0.0684	14.970	0.70875	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1063.83	33	chr13	72760551	.	C	T	1063.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.63;DP=245;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.21;SOR=1.261	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1074,0,612	5	0	1	0
chr13	72998849	72998849	G	A	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon17:c.G2077A:p.V693I,PIBF1:NM_001349655:exon18:c.G2164A:p.V722I	.	.	.	.	.	.	.	.	.	.	.	2679836	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.00289344395587	7.7e-05	0.000199681	6.659e-05	0	0.0002	0	0	6.066e-05	0	0.0001	5.82e-05	9	154602	rs148502626	6.783e-05	6.84e-05	5.726e-05	7.85e-05	0.0004	5.678e-05	5.268e-05	0.0003	0.0002	0.0004	0.0002	0.0015	5.068e-05	0	0.0003	1.26e-05	0.0002	3.495e-05	0.0003	0.0003	0.0002	0.0004	0.0020	0.0002	0.0002	0.0015	0.0013	4.819e-05	0	0.0020	0.0023	0	0	0	0	0	0	0.993	0.01954	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.614843	0.10833	N	0.807286	1	0.08975	N	-1.445	0.00556	N	2.16	0.19166	T	0.24	0.04533	N	0.068	0.08506	-0.9869	0.33371	T	0.016	0.06616	T	10	0.0077511966	0.00176	T	0.002893	0.06104	T	0.066	0.19193	.	.	0.0954503805726	0.09146	0.037732014732913675	0.03719	0.0408442198111	0.04386	0.27326887846	0.06571	T	0.002082	0.01490	T	-0.587308	0.00174	T	-0.779683	0.02463	T	0.00688233376867419	0.00078	T	0.716128	0.32863	T	0.013680956	0.00066	0.024693979	0.00494	0.013680956	0.00066	0.024693979	0.00494	-3.323	0.18876	T	.	.	0.065	0.02578	B	.;.	.;.	0.743011	0.11122	7.769	0.52596189041552888	0.04778	0.07917	0.13904	N	AEFI	0.025345	0.01720	N	-1.05360313124428	0.07516	0.3494539	-0.904945163158809	0.11977	0.6134549	0.0376639426188313	0.14309	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.64	0.252	0.14804	1.806000	0.38530	0.977000	0.23099	-0.633000	0.04490	0.991000	0.37257	0.132000	0.23010	0.919000	0.45453	0.4447:0.2365:0.2039:0.1149	1.482	0.02291	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	686.83	33	chr13	72998849	.	G	A	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.172;DP=217;ExcessHet=0;FS=1.335;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.661;SOR=0.437	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	5	0	1	0
chr13	75807577	75807577	A	T	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon7:c.A313T:p.I105L,LMO7:NM_001366636:exon7:c.A313T:p.I105L,LMO7:NM_015842:exon7:c.A595T:p.I199L,LMO7:NM_001330583:exon8:c.A595T:p.I199L,LMO7:NM_001366632:exon8:c.A595T:p.I199L,LMO7:NM_001366633:exon8:c.A1168T:p.I390L,LMO7:NM_001306080:exon10:c.A1294T:p.I432L	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0091	0.00179712	0.0065	0.0018	0.0016	0.0001	0.0065	0.0100	0.0056	0.0019	0.0065782	1017	154602	rs78174524	0.0085	0.0085	0.0088	0.0081	0.0101	0.0084	0.0083	0.0100	0.0099	0.0013	0.0019	0.0008	0	0.0073	0.0007	0.0101	0.0064	0.0024	0.0061	0.0061	0.0064	0.0058	0.0104	0.0058	0.0056	0.0098	0.0095	0.0016	0.0022	0.0038	0.0006	0.0002	0.0069	0	0.0104	0.0028	0.0019	0.005	0.63226	D	0.17	0.60337	T	.	.	.	.	.	.	0.000001	0.84330	D	0.060346	0.954934	0.81001	D	.	.	.	0.65	0.52642	T	-1.0	0.26422	N	0.646	0.65758	-0.8556	0.51577	T	0.111	0.39770	T	10	0.0088840425	0.00201	T	.	.	.	0.111	0.31313	.	.	0.722757827694	0.72031	0.1485105400605865	0.14773	0.274421442702	0.29933	0.514845311642	0.40901	T	0.039901	0.30554	T	-0.364786	0.03867	T	-0.286378	0.46147	T	0.0305361055353315	0.02072	T	0.863414	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.54551	B	.;.;.;.;.	.;.;.;.;.	3.254943	0.44492	21.9	0.98747142519838871	0.45602	0.93949	0.59660	D	AEFBI	0.523114	0.54685	D	0.471901499529771	0.65455	4.824804	0.51366059100339	0.68906	5.285418	0.9999986461877	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.72	5.72	0.89380	3.536000	0.53338	8.017000	0.76214	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8544:0.0:0.1456:0.0	8.413	0.31814	940	0.13648	.;.;.;.;.	LMO7DN	Skin_Sun_Exposed_Lower_leg	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1010.83	36	chr13	75807577	.	A	T	1010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.358;DP=248;ExcessHet=0;FS=3.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.735;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1302	5	0	1	0
chr13	76957861	76957861	T	C	exonic	ACOD1	.	nonsynonymous SNV	ACOD1:NM_001258406:exon5:c.T1322C:p.I441T	.	425	1087	9	0	1	10	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00804448323855	.	0.00119808	0.0020	0.0009	0.0033	0	0.0012	0.0025	0	0.0020	0.0006792	105	154602	rs116937385	0.0034	0.0032	0.0034	0.0033	0.0047	0.0033	0.0032	0.0037	0.0036	0.0007	0.0018	0.0002	5.596e-05	0.0041	0.0047	0.0038	0.0029	0.0019	0.0026	0.0026	0.0026	0.0025	0.0038	0.0024	0.0023	0.0034	0.0033	0.0008	0.0011	0.0020	0	0.0002	0.0048	0	0.0038	0.0038	0.0017	0.428	0.09717	T	0.436	0.13518	T	.	.	.	.	.	.	0.413653	0.12963	N	0.768382	1	0.08975	N	-0.145	0.04423	N	.	.	.	-0.22	0.10480	N	0.052	0.02366	-0.9808	0.34817	T	0.032	0.13811	T	7	0.0068241954	0.00155	T	0.008044	0.21316	T	0.069	0.20116	.	.	0.0297737177859	0.01360	0.287436990976089	0.28656	.	.	0.284151256084	0.08077	T	0.005906	0.05354	T	-0.591143	0.00165	T	-0.623069	0.10946	T	0.00374820132370884	0.00040	T	0.572743	0.20478	T	0.064329855	0.13637	0.048274547	0.07137	0.064329855	0.13637	0.048274547	0.07137	-2.655	0.06933	T	.	.	0.073	0.04723	B	.;.	.;.	-0.425891	0.02117	0.201	0.39198070028937465	0.02690	0.05145	0.10956	N	AEFDBI	0.094890	0.19179	N	-0.84459848173983	0.12182	0.5923094	-0.902796803682885	0.12027	0.6163549	0.999817226941302	0.43459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.8	-2.67	0.05703	0.813000	0.26883	-1.117000	0.06280	-0.672000	0.04293	0.010000	0.18352	0.000000	0.08366	0.237000	0.22922	0.0:0.6171:0.1598:0.2231	8.709	0.33535	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	743.83	36	chr13	76957861	.	T	C	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.3;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.3;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	5	0	1	0
chr13	77698966	77698966	C	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001040153:exon1:c.C43A:p.R15S,SLAIN1:NM_001366665:exon1:c.C43A:p.R15S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00485041082112	.	.	.	.	.	.	.	.	.	.	.	.	.	rs927239856	1.23e-05	1.231e-05	9.998e-06	1.466e-05	0.0002	7.49e-06	6.13e-06	6.24e-05	4.051e-05	0.0002	0	0	0	0	0	2.781e-06	0.0002	0	4.598e-05	4.594e-05	2.57e-05	6.717e-05	0.0002	2.108e-05	1.526e-05	7.876e-05	5.578e-05	0.0002	0	0	0	0	0	0	0	0	0	0.087	0.32453	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.3	0.11913	N	0.067	0.03956	-1.0164	0.24884	T	0.068	0.27913	T	7	0.058128625	0.06787	T	0.00485	0.12161	T	0.014	0.01968	0.38	0.39645	0.043077524339	0.03247	.	.	0.446009560045	0.44480	.	.	.	.	.	.	-0.373511	0.03420	T	-0.774299	0.02629	T	0.0579173588349018	0.06836	T	0.332167	0.06971	T	.	.	.	.	.	.	.	.	-2.149	0.03800	T	.	.	0.385	0.58727	A	.	.	0.737949	0.11073	7.724	0.85563134487535208	0.15971	0.02587	0.07144	N	ALL	0.066974	0.13142	N	-1.16971078515615	0.05463	0.2491146	-1.26977585491886	0.04845	0.2295157	0.999999999987094	0.74766	0.56387	0.32371	0	0.374146	0.05931	1	0.449817	0.06638	2	0.618803	0.45993	0	.	.	4.6	-2.86	0.05376	-1.138000	0.03327	-0.981000	0.06712	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.3492:0.1373:0.5135	6.099	0.19262	136	0.94604	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1059.83	38	chr13	77698966	.	C	A	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=264;ExcessHet=0;FS=2.797;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.812;SOR=0.456	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr13	77699039	77699039	G	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001040153:exon1:c.G116A:p.G39E,SLAIN1:NM_001366665:exon1:c.G116A:p.G39E	.	.	.	.	.	.	.	.	.	.	.	3208241	SLAIN1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.068	.	.	0.00738818	0.0007	0	0	0.0303	0	0	0.0076	0.0001	0.0005757	89	154602	rs142503713	0.0009	0.0009	0.0009	0.0009	0.0312	0.0009	0.0009	0.0297	0.0291	9.501e-05	8.405e-05	7.943e-05	0.0312	0	0.0002	1.669e-05	0.0022	0.0004	0.0015	0.0015	0.0015	0.0015	0.0366	0.0013	0.0013	0.0323	0.0307	0.0003	0	0.0008	0	0.0366	0	0	4.41e-05	0.0009	0.0019	0.0	0.91255	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	.	.	.	1.23	0.01037	N	0.076	0.05037	-1.0340	0.19173	T	0.030	0.12979	T	7	0.0023901463	0.00035	T	.	.	.	0.068	0.19811	.	.	0.043077524339	0.03247	.	.	0.515258437671	0.49436	.	.	.	.	.	.	-0.655095	0.00067	T	-0.688708	0.06464	T	0.0341432799525746	0.02662	T	0.374163	0.08891	T	.	.	.	.	.	.	.	.	-4.009	0.23938	T	.	.	0.127	0.26947	B	.	.	0.973838	0.13511	10.03	0.91823794720550389	0.21132	0.04887	0.10631	N	AEFDGBHCI	0.051475	0.09097	N	-0.825972306448281	0.12649	0.617888	-0.854828220082659	0.13172	0.6818538	0.999999997695797	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.449817	0.06638	2	0.618803	0.45993	0	.	.	4.65	0.919	0.18518	0.234000	0.17708	0.675000	0.20627	0.676000	0.76740	0.027000	0.20232	0.228000	0.23763	0.041000	0.14368	0.3374:0.0:0.6626:0.0	7.446	0.26384	136	0.94604	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	682.83	46	chr13	77699039	.	G	A	682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.751;DP=221;ExcessHet=0;FS=4.395;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.563;SOR=0.262	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr13	99295395	99295395	C	T	exonic	GPR183	.	nonsynonymous SNV	GPR183:NM_004951:exon2:c.G751A:p.V251I	.	425	1095	2	0	0	2	0.000912409	.	.	.	2349817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00303175810419	.	.	0.0001	9.81e-05	0	0	0	0.0002	0	6.066e-05	0.0001164	18	154602	rs201755595	7.867e-05	7.867e-05	7.215e-05	8.526e-05	9.353e-05	6.667e-05	6.201e-05	7.861e-05	7.345e-05	0	4.472e-05	3.826e-05	0	0	0	9.353e-05	8.279e-05	3.478e-05	0.0001	0.0001	0.0001	9.423e-05	0.0002	7.584e-05	6.288e-05	0.0001	9.9e-05	2.416e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.884	0.02519	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.021541	0.26810	N	0.380251	0.795042	0.29181	N	-0.02	0.05091	N	1.24	0.36691	T	0.19	0.04947	N	0.102	0.08506	-0.9974	0.30646	T	0.027	0.11485	T	9	0.023148626	0.00597	T	0.003032	0.06517	T	0.036	0.09122	0.624	0.75916	0.0920862733494	0.08535	0.11807231241806063	0.11734	0.2501032942	0.27591	0.332118272781	0.15254	T	0.081301	0.36566	T	-0.453312	0.01080	T	-0.629249	0.10472	T	0.00858541456567678	0.00105	T	0.672333	0.28093	T	0.03422338	0.03798	0.039931975	0.04200	0.03422338	0.03797	0.039931975	0.04200	-3.567	0.17381	T	.	.	0.091	0.12938	B	.	.	1.340187	0.17468	13.18	0.76210588567059234	0.11377	0.26438	0.22993	N	AEFDGBCI	0.091306	0.18496	N	-0.733491324009042	0.15085	0.7571635	-0.556847097222618	0.20624	1.112024	0.999999791426997	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.91	1.72	0.23498	-0.009000	0.12703	0.833000	0.21967	0.599000	0.40250	0.323000	0.25529	0.000000	0.08366	0.994000	0.71098	0.0:0.5602:0.138:0.3018	6.603	0.21905	912	0.21483	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	.	.	.	.	.	.	.	.	0.08333	1132.83	36	chr13	99295395	.	C	T	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.832;DP=284;ExcessHet=0;FS=3.698;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.718;SOR=0.992	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	5	0	1	0
chr13	99970413	99970413	-	GGCGGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1262_1263insGCCGCC:p.P424_A425insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs1396446119	0.0039	0.0027	0.0039	0.0038	0.0040	0.0038	0.0037	0.0039	0.0039	0.0036	0.0008	0.0017	0.0025	7.718e-05	0.0032	0.0040	0.0033	0.0035	0.0051	0.0051	0.0054	0.0048	0.0131	0.0048	0.0046	0.0101	0.0091	0.0043	0	0.0056	0.0057	0.0131	0.0019	0	0.0053	0.0030	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1420.7	44	chr13	99970413	.	T	TGGCGGC	1420.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.299;DP=251;ExcessHet=1.383;FS=3.189;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.94;SOR=0.395	GT:AD:DP:GQ:PL	0/0:43,0:43:75:0,75,1125	5	0	1	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	160.83	124	chr13	99982726	.	T	C	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.221;DP=425;ExcessHet=0;FS=146.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.075;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:70:.:.:0,70,2517:.	5	0	1	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	160.83	124	chr13	99982727	.	G	A	160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.638;DP=371;ExcessHet=0;FS=146.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=-0.453;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	5	0	1	0
chr13	102737972	102737972	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A12725G:p.E4242G	.	403	1094	25	0	0	25	0.0112969	.	.	.	904577	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0050	0.0009	0.0048	0	0	0.0071	0.0155	0.0039	0.0017335	268	154602	rs112442443	0.0074	0.0071	0.0073	0.0074	0.0325	0.0072	0.0072	0.0287	0.0272	0.0014	0.0040	0.0015	0	0.0064	0.0325	0.0083	0.0069	0.0031	0.0056	0.0056	0.0057	0.0054	0.0091	0.0052	0.0051	0.0085	0.0083	0.0015	0.0011	0.0052	0.0006	0	0.0041	0.0170	0.0091	0.0062	0.0035	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0039803684	0.00077	T	.	.	.	.	.	.	.	0.148003135375	0.14442	0.11800615636849889	0.11727	.	.	0.273595511913	0.06614	T	.	.	.	-0.507436	0.00519	T	-0.493712	0.23001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	1.165643	0.15551	11.93	0.63801428211508693	0.07321	0.00755	0.03133	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.980156937479211	0.30104	0.07523	0.01759	0	0.059962	0.00310	0	0.063197	0.01477	0	0.091162	0.02695	0	0.0582052	0.13933	1.08	-0.153	0.12747	-0.230000	0.09093	0.102000	0.14662	0.609000	0.47794	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.0:0.3125:0.0:0.6875	2.902	0.05359	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	0	0	1	0	0.016990	0.010753	0.021429	0.048673	0.071429	0.000000	0.006024	0.000000	0.08333	2082.83	175	chr13	102737972	.	T	C	2082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.957;DP=709;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.151;SOR=0.784	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	5	0	1	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	150.7	152	chr13	102738219	.	C	G	150.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-5.16;DP=787;ExcessHet=0;FS=431.136;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=2.63;SOR=9.087	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	3	0	1	2
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021021	0.006579	0.000000	0.024272	0.000000	0.071429	0.043478	0.031250	0.08333	1782.83	82	chr13	102740391	.	G	A	1782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.752;DP=497;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=2.06;SOR=0.493	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	5	0	1	0
chr13	109055516	109055516	T	C	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon27:c.T3256C:p.Y1086H,MYO16:NM_015011:exon27:c.T3190C:p.Y1064H	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.122972801827	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs763155900	6.844e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002261	0.36887	U	0.000000	0.999981	0.54805	D	3.21	0.89262	M	-2.33	0.87910	D	-4.52	0.78302	D	0.937	0.94314	0.960	0.96543	D	0.854	0.95128	D	9	0.9596411	0.95358	D	0.122973	0.80405	D	0.882	0.96539	0.788	0.91068	0.970186557371	0.96986	0.636437529230742	0.63577	0.840192823762	0.68019	0.697085618973	0.66723	T	0.623108	0.92583	D	0.425081	0.91281	D	0.372823	0.91172	D	0.986272215843201	0.77035	D	.	.	.	0.48032087	0.65920	0.53959674	0.73392	0.48032087	0.65921	0.53959674	0.73392	-5.413	0.41044	T	0.5984528006292101	0.66541	0.537	0.66234	A	.;.;.	.;.;.	3.774202	0.54225	23.5	0.99869835030238396	0.94726	0.97427	0.74681	D	AEFGI	0.844451	0.76141	D	0.749767461015604	0.82890	7.875849	0.625404952096059	0.76788	6.556377	0.999999695725234	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.969000	0.75879	5.046000	0.46955	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.296	0.65865	969	0.06854	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	753.83	33	chr13	109055516	.	T	C	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.706;DP=244;ExcessHet=0;FS=0.938;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.223;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	5	0	1	0
chr13	110186475	110186475	G	A	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon26:c.C1807T:p.P603S	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	513327	not_provided|Hemorrhage,_intracerebral,_susceptibility_to|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Retinal_arterial_tortuosity|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	0.350169946826	.	.	1.689e-05	0	0	0	0	1.544e-05	0.0011	0	1.29e-05	2	154602	rs747585517	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0003	1.111e-05	9.34e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.619e-05	4.968e-05	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	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	0.049	0.39820	D	0.123	0.35582	T	0.954	0.54400	P	0.563	0.49647	P	0.000002	0.62929	D	0.060745	1	0.81001	D	2.36	0.67893	M	-4.06	0.96529	D	-4.49	0.78046	D	0.494	0.52740	0.928	0.96074	D	0.881	0.96035	D	10	0.7368567	0.74681	D	0.35017	0.92247	D	0.728	0.90457	0.471	0.54537	0.797550324333	0.79566	0.45766519602117356	0.45684	1.19757129527	0.80450	0.543149650097	0.44891	T	0.832095	0.96001	D	0.207399	0.74586	D	0.0601374	0.74253	D	0.935387015342712	0.60356	D	0.662034	0.27102	T	0.2562326	0.48661	0.3026562	0.56297	0.1854503	0.39908	0.30464837	0.56493	-7.026	0.54223	T	0.310055376845575	0.40791	0.088	0.11510	B	.	.	4.309602	0.65871	24.9	0.99478057955203736	0.66741	0.99048	0.90464	D	AEFDBI	0.928220	0.91209	D	0.611311158603558	0.73890	6.040452	0.582266993105831	0.73671	6.008442	0.999999999999883	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	6.928000	0.75662	11.715000	0.94718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.93	0.86058	994	0.00715	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1880.83	44	chr13	110186475	.	G	A	1880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.769;DP=380;ExcessHet=0;FS=0.56;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.009;SOR=0.751	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1891,0,2476	5	0	1	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5162.16	204	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	*	5162.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.309;DP=697;ExcessHet=0.7136;FS=1.819;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.22;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,83:140:99:0|1:112547505_C_T:3241,0,2037:112547505	4	0	2	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7447.74	183	chr13	112547565	.	C	*	7447.74	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.42;DP=585;ExcessHet=0.1336;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=1.67;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:53,0:134:99:0|1:112547505_C_T:3062,3221,5338:112547505	5	1	0	0
chr13	113403958	113403958	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4232A:p.R1411Q,LOC101928841:NM_001375393:exon2:c.G4232A:p.R1411Q	.	885	636	1	0	0	1	0.000785546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918824847	2.038e-05	2.464e-05	2.2e-05	1.859e-05	0.0003	1.357e-05	1.133e-05	1.231e-05	8.05e-06	0	0	0	7.438e-05	0	0.0003	1.681e-05	8.692e-05	0	7.894e-05	0.0001	0.0001	4.426e-05	0.0006	4.327e-05	3.387e-05	0.0002	8.707e-05	0	0	0	0	0.0006	0	0	0.0001	0	0	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.06409907	0.08450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006202	0.05637	T	.	.	.	.	.	.	.	.	.	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.	.	-0.834522	0.01041	0.044	0.74631023425162712	0.10767	0.06468	0.12476	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998189511547482	0.36545	0.07523	0.01759	0	0.109994	0.03358	0	0.044551	0.00207	1	0.079188	0.02158	0	0.0551177	0.12729	0.14	0.14	0.14101	-0.240000	0.08970	-0.831000	0.07256	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1381.83	184	chr13	113403958	.	C	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.649;DP=906;ExcessHet=0;FS=1.549;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-1.377;QD=4.85;ReadPosRankSum=-0.953;SOR=0.594	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	5	0	1	0
chr13	113404102	113404108	TGTTCCC	0	exonic	LOC101928841	.	.	.	.	1076	408	24	0	14	38	0.0285714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	397.47	54	chr13	113404102	.	TGTTCCC	*	397.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=608;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.33;MQRankSum=1.73;QD=1.14;ReadPosRankSum=-1.26;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	5	0	1	0
chr13	113404110	113404111	AG	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	415.47	50	chr13	113404110	.	AG	*	415.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.136;DP=522;ExcessHet=1.383;FS=0.839;MLEAC=1;MLEAF=0.083;MQ=55.95;MQRankSum=1.83;QD=1.21;ReadPosRankSum=-1.463;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	5	0	1	0
chr13	113404112	113404117	CCCGTT	0	exonic	LOC101928841	.	.	.	.	1091	394	23	0	14	37	0.02836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	427.47	51	chr13	113404112	.	CCCGTT	*	427.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=518;ExcessHet=1.383;FS=0.405;MLEAC=1;MLEAF=0.083;MQ=55.78;MQRankSum=1.88;QD=1.26;ReadPosRankSum=-1.645;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	5	0	1	0
chr13	113404126	113404126	C	0	exonic	LOC101928841	.	.	.	.	1158	327	24	0	13	37	0.0353982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	246.04	37	chr13	113404126	.	C	*	246.04	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.376;DP=448;ExcessHet=1.383;FS=0.914;MLEAC=1;MLEAF=0.125;MQ=56.19;MQRankSum=1.61;QD=0.8;ReadPosRankSum=-1.31;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	3	0	1	2
chr13	113404129	113404129	T	0	exonic	LOC101928841	.	.	.	.	1141	345	24	0	12	36	0.0336134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	171.51	34	chr13	113404129	.	T	*	171.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.424;DP=439;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.83;MQRankSum=1.36;QD=0.57;ReadPosRankSum=-1.682;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	5	0	1	0
chr13	113404131	113404131	C	0	exonic	LOC101928841	.	.	.	.	1143	343	24	0	12	36	0.0338028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	135.51	34	chr13	113404131	.	C	*	135.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.288;DP=429;ExcessHet=1.383;FS=0.449;MLEAC=1;MLEAF=0.083;MQ=55.95;MQRankSum=1.17;QD=0.46;ReadPosRankSum=-1.965;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1010:.	5	0	1	0
chr13	113799342	113799342	C	G	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon5:c.C346G:p.P116A,TMEM255B:NM_182614:exon5:c.C346G:p.P116A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00817844347348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.16520	T	0.123	0.35582	T	0.204	0.29802	B	0.115	0.31843	B	.	.	.	.	0.997514	0.22627	N	2.4	0.69460	M	0.9	0.45248	T	-2.04	0.46842	N	0.264	0.48042	-1.0099	0.26949	T	0.116	0.40919	T	9	0.08783275	0.15067	T	0.008178	0.21674	T	0.077	0.22490	0.282	0.23801	0.110078149338	0.10416	0.4651065259748013	0.46429	0.243769190968	0.26884	0.359801411629	0.19356	T	0.044351	0.26789	T	-0.12358	0.32538	T	-0.41529	0.31616	T	0.193327065845335	0.20039	T	0.89811	0.64401	D	0.045925796	0.07601	0.07236086	0.15604	0.045925796	0.07601	0.07236086	0.15603	-6.285	0.48603	T	.	.	0.128	0.30476	B	.;.	.;.	0.618465	0.09867	6.630	0.98564149052426309	0.43012	0.29334	0.23794	N	AEFDBI	0.096032	0.19393	N	-0.651081078744022	0.17429	0.8967721	-0.698390219134829	0.17001	0.9019953	0.891160996300393	0.25853	0.706548	0.73137	0	0.573888	0.26702	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.35	2.55	0.29757	1.819000	0.38660	1.452000	0.26614	0.515000	0.23462	0.004000	0.16614	0.001000	0.17328	0.045000	0.14751	0.3154:0.6845:0.0:0.0	11.793	0.51352	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	35	chr13	113799342	.	C	G	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.736;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.943;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1270	5	0	1	0
chr13	113820925	113820925	G	A	exonic	GAS6	.	nonsynonymous SNV	GAS6:NM_000820:exon15:c.C1976T:p.A659V	.	.	.	.	.	.	.	.	.	.	.	3681039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.00904040253773	.	.	1.698e-05	0	0	0	0	3.116e-05	0	0	1.29e-05	2	154602	rs780966895	1.164e-05	1.3e-05	8.178e-06	1.514e-05	0.0002	7.09e-06	5.8e-06	9.24e-06	4.56e-06	0	2.237e-05	0	0	0	0.0002	6.296e-06	8.287e-05	3.479e-05	3.285e-05	3.283e-05	0	6.724e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.733	0.03776	T	0.848	0.03527	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.27	0.79277	T	1.26	0.00998	N	0.082	0.05799	-0.9549	0.40114	T	0.153	0.48291	T	9	0.031648546	0.01303	T	0.00904	0.23797	T	0.107	0.30369	.	.	0.293502639404	0.28954	0.1688083700788141	0.16800	0.247271584804	0.27277	0.251349300146	0.03912	T	.	.	.	-0.254101	0.13600	T	-0.51991	0.20304	T	0.0353772975504398	0.02872	T	0.714229	0.32652	T	0.13700305	0.31739	0.05813872	0.10692	0.13700305	0.31739	0.05813872	0.10691	-3.582	0.17596	T	.	.	0.091	0.13127	B	.	.	0.841918	0.12137	8.687	0.93678488462270582	0.23578	0.03037	0.07925	N	ALL	0.137918	0.25905	N	-1.23557258051603	0.04494	0.2029194	-1.22405961662133	0.05525	0.263503	0.999999999987798	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.72	-2.14	0.06725	1.724000	0.37685	0.669000	0.20577	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.107000	0.18608	0.659:0.0:0.1931:0.1479	5.796	0.17648	889	0.27310	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1176.83	36	chr13	113820925	.	G	A	1176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.737;SOR=0.77	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1073	5	0	1	0
chr14	18967973	18967973	A	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon1:c.A488G:p.D163G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00140141947623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.07140	T	0.678	0.06147	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.38236	T	-1.14	0.29323	N	0.147	0.14905	-0.9637	0.38468	T	0.021	0.09056	T	9	0.060992032	0.07580	T	0.001401	0.02062	T	.	.	0.493	0.58048	0.0138822411134	0.00435	0.07455446641056031	0.07391	.	.	0.702951908112	0.67571	T	0.001657	0.01084	T	-0.261024	0.12779	T	-0.61272	0.11765	T	0.0664081357097046	0.08138	T	0.435556	0.11926	T	0.042447716	0.06440	0.089846745	0.21033	0.042447716	0.06440	0.089846745	0.21033	-9.415	0.70329	D	.	.	0.092	0.13644	B	.	.	0.589247	0.09576	6.352	0.64720985066413428	0.07572	0.01421	0.04793	N	AEFI	0.031153	0.03271	N	-1.38691289955028	0.02759	0.1223219	-1.36622744845366	0.03618	0.1691438	2.15982679078891E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	1.27	0.20595	0.175000	0.16577	.	.	-0.570000	0.04786	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	1.0:0.0:0.0:0.0	4.725	0.12314	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1961.08	40	chr14	18967973	.	A	G	1961.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.91;DP=398;ExcessHet=0.4139;FS=3.209;MLEAC=2;MLEAF=0.167;MQ=30.21;MQRankSum=1.63;QD=6.45;ReadPosRankSum=-0.086;SOR=0.465	GT:AD:DP:GQ:PL	0/1:69,45:114:99:960,0,1716	4	0	2	0
chr14	18973173	18973173	T	C	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon3:c.T776C:p.L259P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.00512438160922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315955289	0.0111	0.0010	0.0149	0.0079	0.0610	0.0087	0.0079	0.0240	0.0156	0.0610	0.0167	0.0900	0	0	0	0.0066	0.0421	0	0.0152	0.0037	0.0250	0	0.0455	0	0	.	.	0.0455	.	0	0	0	0	.	0	.	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.083019	0.20777	N	0.343745	1	0.81001	D	.	.	.	-0.69	0.72678	T	-5.83	0.88361	D	0.696	0.70088	0.266	0.86999	D	0.669	0.88542	D	10	0.8865901	0.87988	D	0.005124	0.13001	T	.	.	0.736	0.86892	0.480198768302	0.47651	0.3495240716718446	0.34866	.	.	0.853858351707	0.90195	D	0.21271	0.57383	T	0.203558	0.74224	D	0.0546211	0.73888	D	0.912439933887655	0.56834	D	0.853215	0.53849	D	0.28856376	0.51858	0.26489595	0.52315	0.28856376	0.51858	0.26489595	0.52314	-10.809	0.78600	D	.	.	0.866	0.80671	P	.	.	3.455147	0.48129	22.6	0.99560948784063852	0.71769	0.80109	0.39836	D	AEFI	0.254166	0.37354	N	0.233580678797722	0.52832	3.455045	-0.0674021320681316	0.36747	2.142483	3.42758929391048E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.87	1.87	0.24559	4.869000	0.62723	.	.	0.312000	0.19173	1.000000	0.71638	0.907000	0.28067	0.003000	0.05239	0.0:0.0:0.0:1.0	5.779	0.17561	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	44.33	.	chr14	18973173	.	T	C	44.33	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=25;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,81	2	0	1	3
chr14	18985413	18985413	C	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon7:c.C1129G:p.Q377E	.	749	761	12	0	0	12	0.00782269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000995831050359	.	.	0.0014	0	0.0031	0.0007	0	0.0008	0.0045	0.0043	3.84e-05	1	26028	rs201133679	0.0017	0.0067	0.0017	0.0017	0.0213	0.0016	0.0016	0.0198	0.0192	0.0004	0.0213	0.0054	0.0013	0.0005	0.0016	0.0011	0.0019	0.0023	0.0011	0.0032	0.0012	0.0009	0.0039	0.0009	0.0008	0.0027	0.0023	0.0005	0	0.0039	0.0017	0.0017	0	0	0.0009	0.0021	0.0008	0.025	0.47320	D	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.68	0.19509	N	0.15	0.15328	-0.9541	0.40256	T	0.032	0.13548	T	9	0.0067068934	0.00152	T	9.96E-4	0.01050	T	.	.	0.268	0.21576	0.0138822411134	0.00435	0.023526008375047404	0.02304	.	.	0.650385797024	0.60041	T	0.001799	0.01223	T	-0.209333	0.19474	T	-0.538469	0.18446	T	0.0223406448157293	0.00947	T	0.608239	0.22965	T	0.08524681	0.19765	0.14990585	0.35376	0.08524681	0.19764	0.14990585	0.35375	-1.958	0.03026	T	.	.	0.067	0.02370	B	.	.	0.270675	0.06484	2.960	0.79974958318614919	0.12987	0.00315	0.01661	N	AEFI	0.021473	0.00960	N	-1.44666217930686	0.02243	0.09884121	-1.55002631544704	0.01976	0.09023787	5.99962833003407E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-2.36	0.06282	-0.376000	0.07522	.	.	0.284000	0.18682	0.051000	0.21449	0.000000	0.08366	0.038000	0.14061	0.0:0.4072:0.5928:0.0	8.085	0.29928	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005383	0.008197	0.005510	0.008850	0.000000	0.008929	0.007353	0.004167	0.1667	192.07	40	chr14	18985413	.	C	G	192.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=249;ExcessHet=0.4139;FS=4.301;MLEAC=2;MLEAF=0.167;MQ=34.35;MQRankSum=0.621;QD=1.59;ReadPosRankSum=0.052;SOR=0.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:83:.:.:0,83,1923:.	4	0	2	0
chr14	19781253	19781253	G	A	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.G931A:p.E311K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00318015179772	0.0002	0.000399361	0.0005	0.0001	0.0004	0	0	0.0003	0	0.0025	0.000401	62	154602	rs2318549	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.02e-05	0.0002	0.0002	0	0	0.0035	0.0002	0.0004	0.0023	0.0002	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.404e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0009	0.0021	1.0	0.00964	T	0.951	0.02610	T	0.0	0.02946	B	0.0	0.01387	B	0.013227	0.28908	N	0.244803	0.999986	0.18198	N	-0.205	0.04094	N	9.91	0.00000	T	0.41	0.03407	N	0.149	0.15187	-1.1481	0.01083	T	0.000	0.00039	T	10	0.0059630275	0.00134	T	0.00318	0.06966	T	0.080	0.23350	.	.	0.33835085245	0.33439	0.1229335702098152	0.12219	0.00235242544378	0.00204	0.417993187904	0.27561	T	0.001081	0.00603	T	-0.654698	0.00068	T	-0.719372	0.04826	T	0.0086430702238138	0.00106	T	0.344066	0.07525	T	0.03778965	0.04913	0.051260136	0.08214	0.03778965	0.04913	0.051260136	0.08214	-1.404	0.01579	T	.	.	0.060	0.00919	B	.;.	.;.	0.744457	0.11139	7.782	0.55914138705577587	0.05442	0.00847	0.03386	N	AEFGI	0.026292	0.01947	N	-0.857016938671583	0.11878	0.5757078	-0.693444924623671	0.17123	0.9091206	4.45107030509885E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	2.88	0.32617	0.679000	0.24971	2.853000	0.35153	-0.067000	0.16409	0.001000	0.13787	0.999000	0.35428	0.266000	0.23669	0.7275:0.1747:0.0977:0.0	5.457	0.15894	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	0.002014	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.1667	6094.04	162	chr14	19781253	.	G	A	6094.04	.	AC=2;AF=0.167;AN=12;DP=804;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.88;QD=33.3;SOR=2.316	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	5	1	0	0
chr14	20556541	20556541	G	A	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.C529T:p.R177C,RNASE9:NM_001110356:exon3:c.C529T:p.R177C,RNASE9:NM_001110357:exon3:c.C529T:p.R177C,RNASE9:NM_001110358:exon4:c.C544T:p.R182C,RNASE9:NM_001110360:exon4:c.C544T:p.R182C,RNASE9:NM_001289110:exon4:c.C529T:p.R177C,RNASE9:NM_001110359:exon5:c.C544T:p.R182C,RNASE9:NM_001110361:exon5:c.C544T:p.R182C	.	.	.	.	.	.	.	.	.	.	.	2208632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0100433373566	7.7e-05	.	2.483e-05	0	0	0	0	3.01e-05	0	6.089e-05	1.94e-05	3	154602	rs139929154	2.669e-05	2.736e-05	2.723e-05	2.613e-05	0.0003	1.998e-05	1.754e-05	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	2.879e-05	0	5.797e-05	3.944e-05	4.597e-05	2.57e-05	5.383e-05	0.0001	1.716e-05	1.13e-05	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.028	0.54934	D	0.136	0.27347	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.66	0.72348	T	-0.15	0.09297	N	0.086	0.07811	-1.0319	0.19841	T	0.111	0.39982	T	9	0.040963203	0.02709	T	0.010043	0.26102	T	0.103	0.29403	.	.	0.256283259241	0.25257	0.27092348254148185	0.27005	0.115005616732	0.12974	0.403885513544	0.25609	T	0.004386	0.03788	T	-0.345517	0.05015	T	-0.55256	0.17080	T	0.0891381949186325	0.11115	T	0.547145	0.18749	T	0.10314071	0.24376	0.05944043	0.11157	0.10314071	0.24376	0.05944043	0.11156	-3.421	0.15340	T	.	.	0.283	0.52310	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.484314	0.19102	14.09	0.87843834912885976	0.17523	0.00717	0.03025	N	AEFBI	0.040658	0.06076	N	-1.43162297720078	0.02365	0.1043649	-1.51666559178945	0.02216	0.1015638	0.999488012636715	0.39952	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-4.62	0.03129	-0.205000	0.09413	-0.703000	0.07785	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.355:0.1136:0.3659:0.1655	1.454	0.02238	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-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	.	.	.	.	.	.	.	.	0.08333	1084.83	72	chr14	20556541	.	G	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.8;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.594;SOR=0.798	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	0
chr14	21081510	21081510	C	T	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon14:c.C500T:p.A167V,ARHGEF40:NM_001278530:exon14:c.C500T:p.A167V,ARHGEF40:NM_018071:exon14:c.C2642T:p.A881V	.	425	1096	1	0	0	1	0.000455996	0.0022	0.224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.010246744439	.	.	2.621e-05	0	0	0	0	4.771e-05	0	0	2.59e-05	4	154602	rs767200888	2.876e-05	2.873e-05	3.815e-05	1.927e-05	0.0016	2.153e-05	1.909e-05	0.0008	0.0006	2.988e-05	0	0	0	0	0.0016	2.788e-05	1.657e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.05	0.39575	D	0.03	0.54159	D	0.379	0.34321	B	0.048	0.24975	B	0.001164	0.39978	N	0.113101	0.921452	0.36690	D	1.78	0.46185	L	4.0	0.03239	T	-1.77	0.41809	N	0.425	0.46462	-0.8272	0.53480	T	0.008	0.02638	T	10	0.19008955	0.34637	T	0.010247	0.26566	T	0.172	0.43662	0.363	0.36874	0.37281450598	0.36888	0.4696241551435929	0.46881	0.262106543291	0.28775	0.821040630341	0.85187	D	0.020207	0.15954	T	-0.18223	0.23405	T	-0.423297	0.30697	T	0.0992979789363566	0.12280	T	0.752925	0.37500	T	0.0633829	0.13341	0.08923936	0.20857	0.0633829	0.13341	0.08923936	0.20856	-6.819	0.52700	T	.	.	0.281	0.51359	B	.	.	3.526624	0.49461	22.8	0.99816065575637503	0.89973	0.91375	0.53407	D	AEFDBI	0.234928	0.35761	N	-0.463329216384316	0.23290	1.249652	-0.325314382976006	0.27283	1.512858	0.99999177777808	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.66	3.84	0.43422	3.539000	0.53359	2.733000	0.34404	-0.182000	0.10109	0.997000	0.40164	0.996000	0.32793	0.977000	0.56843	0.0:0.8165:0.0:0.1835	7.802	0.28344	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1937.83	178	chr14	21081510	.	C	T	1937.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=387;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.411;SOR=0.588	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1283	5	0	1	0
chr14	22774471	22774471	T	G	exonic	SLC7A7	.	nonsynonymous SNV	SLC7A7:NM_003982:exon8:c.A1128C:p.E376D,SLC7A7:NM_001126105:exon9:c.A1128C:p.E376D,SLC7A7:NM_001126106:exon9:c.A1128C:p.E376D	Lysinuric protein intolerance, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	328916	Lysinuric_protein_intolerance|Autoinflammatory_syndrome	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0173058405061	0.0004	.	0.0001	0	8.637e-05	0	0	0.0002	0.0011	0	0.0001552	24	154602	rs139619724	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	7.541e-05	0	0	0.0039	0	0	0.0005	5.216e-05	0.0004	5.797e-05	7.888e-05	7.881e-05	0.0001	4.037e-05	5.881e-05	4.498e-05	3.514e-05	1.972e-05	1.125e-05	0	0	0	0.0023	0	0	0	5.881e-05	0	0	0.312	0.13925	T	0.534	0.14034	T	0.02	0.18235	B	0.072	0.28043	B	0.000000	0.84330	N	0.045500	0.999917	0.52935	D	1.38	0.34346	L	-2.53	0.89430	D	-0.79	0.27463	N	0.31	0.37405	-0.7336	0.58781	T	0.421	0.76637	T	10	0.026293337	0.00800	T	0.017306	0.38957	T	0.289	0.60808	0.507	0.60232	0.454426139905	0.45068	0.6179654629616598	0.61729	0.188844913208	0.21202	0.584623098373	0.50737	T	0.459631	0.79713	T	-0.198545	0.21015	T	-0.274663	0.47349	T	0.020420056590304	0.00742	T	0.827517	0.49142	T	0.1912375	0.40742	0.08491419	0.19568	0.1912375	0.40742	0.08491419	0.19568	-6.432	0.49759	T	.	.	0.139	0.36093	B	.;.;.;.;.;.	.;.;.;.;.;.	1.808306	0.22980	15.84	0.98043183080338425	0.37805	0.41583	0.26689	N	AEFDBHCI	0.399446	0.47472	N	-0.934143520436759	0.10051	0.4784947	-0.809555566861106	0.14264	0.7444435	0.999205900402877	0.38742	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.17	0.938	0.18625	-0.396000	0.07338	-0.510000	0.08751	-0.883000	0.02445	0.147000	0.23610	0.032000	0.21310	0.946000	0.48989	0.2744:0.3494:0.0:0.3762	3.540	0.07364	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	921.83	71	chr14	22774471	.	T	G	921.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.829;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.217;SOR=0.786	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr14	23042637	23042637	C	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.C412A:p.Q138K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00356382902211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.698	0.05767	T	0.001	0.07471	B	0.003	0.08700	B	0.036524	0.24511	N	0.424528	0.999424	0.21215	N	0.59	0.15444	N	2.09	0.20122	T	-1.38	0.34198	N	0.047	0.01911	-1.0138	0.25720	T	0.027	0.11751	T	10	0.09179452	0.16110	T	0.003564	0.08123	T	0.030	0.07022	0.452	0.51448	0.177238962908	0.17366	0.5947479257585905	0.59404	0.169534834163	0.19113	0.291800320148	0.09185	T	0.065486	0.32701	T	-0.362662	0.03981	T	-0.758716	0.03159	T	0.102845650893272	0.12667	T	0.791621	0.43272	T	0.15138741	0.34418	0.09448894	0.22367	0.15138741	0.34418	0.09448894	0.22366	-4.575	0.31856	T	.	.	0.094	0.14614	B	.	.	1.007744	0.13867	10.42	0.93530260200876147	0.23352	0.55846	0.29967	D	AEFDBCI	0.176338	0.30354	N	-0.6535157266157	0.17357	0.8925088	-0.540072012869009	0.21070	1.138098	0.999999378859792	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.24	2.38	0.28415	2.260000	0.42923	0.031000	0.13732	0.599000	0.40250	0.007000	0.17678	0.000000	0.08366	0.892000	0.42986	0.0:0.5898:0.2596:0.1506	7.258	0.25362	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	146.83	38	chr14	23042637	.	C	A	146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.287;DP=383;ExcessHet=0;FS=107.36;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.512;SOR=6.993	GT:AD:DP:GQ:PL	0/1:153,32:185:99:157,0,4162	5	0	1	0
chr14	23103781	23103781	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon4:c.C497A:p.P166Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2923063	0.46807	T	.	.	.	.	.	.	.	.	.	0.3113500067326587	0.31047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479552	0.15329	T	0.14401741	0.33074	0.32608128	0.58518	0.14401741	0.33074	0.32608128	0.58517	-3.66	0.18729	T	.	.	0.277	0.51068	B	.;.;.	.;.;.	3.791636	0.54583	23.5	0.73780255991438359	0.10452	0.92628	0.56160	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999953275815	0.74766	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.853923	0.52080	5.8	4.91	0.63897	3.205000	0.50792	6.515000	0.55817	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.1659:0.0:0.8341:0.0	8.976	0.35100	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	37.68	1	chr14	23103781	.	G	T	37.68	.	AC=2;AF=0.25;AN=8;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.84;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,73	3	1	0	2
chr14	23143162	23143162	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267036:exon2:c.C236A:p.T79N,SLC7A8:NM_001267037:exon2:c.C33A:p.H11Q,SLC7A8:NM_012244:exon4:c.C551A:p.T184N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.176988216526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044936	0.999998	0.81001	D	.	.	.	-2.55	0.89561	D	-4.64	0.79316	D	0.882	0.88027	0.980	0.96856	D	0.843	0.94753	D	10	0.892818	0.88629	D	0.176988	0.85257	D	0.723	0.90235	0.594	0.72371	0.950281912177	0.94976	0.911442705074045	0.91118	0.606375499986	0.55488	0.703430771828	0.67640	T	0.882033	0.97535	D	0.290747	0.82217	D	0.179861	0.81987	D	0.99386897933883	0.84849	D	0.970203	0.89869	D	0.8861081	0.90176	0.7960101	0.88020	0.8861081	0.90177	0.7960101	0.88020	-11.119	0.85469	D	.	.	0.872	0.81000	P	.;.;.	.;.;.	4.955148	0.81888	27.7	0.99383149229002599	0.61979	0.96838	0.71213	D	AEFGBI	0.920645	0.89293	D	0.935299273819419	0.93378	12.00047	0.902619910490726	0.95685	13.86441	0.999999999994924	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	5.75	0.90390	7.677000	0.83348	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.102	0.93259	882	0.29131	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	113.83	34	chr14	23143162	.	G	T	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.988;DP=269;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.7;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1665:.	5	0	1	0
chr14	23143164	23143164	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267037:exon2:c.C31A:p.H11N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0612071783793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.04	0.85703	D	-1.21	0.30762	N	0.557	0.58202	-0.5067	0.68406	T	0.424	0.76850	T	8	0.30361968	0.47892	T	0.061207	0.68255	D	0.249	0.55752	0.26	0.20315	0.77086461317	0.76876	.	.	.	.	.	.	.	.	.	.	0.195092	0.73434	D	0.0424595	0.73088	D	0.261628549795234	0.23386	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-4.526	0.31227	T	.	.	0.074	0.04975	B	.	.	1.105303	0.14901	11.42	0.9727068673379361	0.33135	0.79891	0.39680	D	AEFGBI	0.079748	0.16113	N	-0.150168534927963	0.35227	2.020759	-0.00403354956185389	0.39534	2.345408	0.99999755809117	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	3.94	0.44807	0.809000	0.26827	4.617000	0.44060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1475:0.0:0.712:0.1405	6.897	0.23443	882	0.29131	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	113.87	34	chr14	23143164	.	G	T	113.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=321;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=1.7;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1665:.	5	0	1	0
chr14	23143165	23143165	G	T	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_001267036:exon2:c.C233A:p.A78D,SLC7A8:NM_012244:exon4:c.C548A:p.A183D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.229488306318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	0.999	0.90584	D	0.993	0.84481	D	0.000000	0.84330	D	0.047261	1	0.81001	D	.	.	.	-2.69	0.90451	D	-4.51	0.78222	D	0.98	0.99015	0.984	0.96921	D	0.895	0.96515	D	10	0.93358636	0.92692	D	0.229488	0.88186	D	0.889	0.96799	0.78	0.90465	0.958641560465	0.95819	0.98668754098432	0.98661	0.740032899241	0.63203	0.786031365395	0.79840	T	0.958716	0.99454	D	0.48386	0.93828	D	0.457255	0.93750	D	0.996586493308438	0.89651	D	0.964304	0.87759	D	0.86718875	0.88640	0.8976682	0.94810	0.86718875	0.88642	0.8976682	0.94810	-12.588	0.90173	D	.	.	0.998	0.97663	P	.;.;.	.;.;.	5.504082	0.91614	32	0.99761876486497847	0.85091	0.98338	0.81774	D	AEFGBI	0.946184	0.95535	D	1.06433164613606	0.97415	16.08972	1.00845615009723	0.98783	19.36713	1.0	0.98316	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.616125	0.45549	0	.	.	5.75	5.75	0.90390	9.602000	0.97623	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.102	0.93259	882	0.29131	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	113.83	34	chr14	23143165	.	G	T	113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.81;DP=279;ExcessHet=0;FS=24.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.65;SOR=4.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,111,1665:.	5	0	1	0
chr14	23268936	23268936	C	T	exonic	RNF212B	.	nonsynonymous SNV	RNF212B:NM_001282322:exon12:c.C647T:p.P216L,RNF212B:NM_001370218:exon13:c.C647T:p.P216L	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0191894921159	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs762439751	8.584e-05	8.346e-05	7.622e-05	9.572e-05	0.0007	7.321e-05	6.851e-05	0.0002	0.0001	0	0	3.972e-05	5.597e-05	0	0.0007	9.365e-05	0.0001	6.313e-05	7.884e-05	7.88e-05	6.422e-05	9.416e-05	0.0006	4.496e-05	3.512e-05	0.0002	8.985e-05	4.825e-05	0	0	0	0.0002	0	0	8.818e-05	0	0.0006	0.004	0.65419	D	0.148	0.32675	T	.	.	.	.	.	.	0.069866	0.21577	U	0.234305	0.998801	0.45475	D	.	.	.	.	.	.	-0.36	0.13035	N	0.381	0.42247	-0.6663	0.61995	T	0.222	0.58537	T	7	0.15646243	0.29467	T	0.019189	0.41484	T	0.067	0.19503	0.158	0.06178	0.449860987313	0.44609	0.1573781085115101	0.15658	.	.	.	.	.	0.022645	0.17425	T	-0.165052	0.25985	T	-0.219816	0.52755	T	0.263939347452083	0.23486	T	0.69863	0.30863	T	0.09161035	0.21470	0.11406899	0.27532	0.09161035	0.21469	0.11406899	0.27532	-3.754	0.20119	T	.	.	0.153	0.33868	B	.;.	.;.	4.512093	0.70673	25.6	0.99797386219756601	0.88283	0.94231	0.60513	D	AEFBI	0.640482	0.61816	D	0.305225314325245	0.56417	3.806316	0.40359816074111	0.61787	4.383999	0.998588537814233	0.37247	0.516011	0.20929	0	0.588066	0.40923	0	0.59043	0.30614	0	0.586402	0.36253	0	.	.	5.49	5.49	0.81022	3.787000	0.55144	5.872000	0.50545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	16.302	0.82659	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1019.83	33	chr14	23268936	.	C	T	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.062;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.807;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1338	5	0	1	0
chr14	24409496	24409496	C	G	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon4:c.C1702G:p.P568A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00482511912595	.	.	8.832e-06	0	0	0	0	0	0	6.467e-05	6.5e-06	1	154602	rs762894342	4.79e-06	4.788e-06	2.723e-06	6.878e-06	4.64e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.995e-07	3.313e-05	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.007	0.14184	B	0.004	0.10090	B	.	.	.	.	0.99948	0.21117	N	0.895	0.22405	L	2.76	0.11515	T	-1.19	0.30346	N	0.127	0.12055	-0.9740	0.36344	T	0.017	0.07187	T	9	0.054195464	0.05731	T	0.004825	0.12066	T	0.060	0.17295	0.402	0.43245	0.0986583533028	0.09354	0.12694952059310854	0.12620	0.188238644464	0.21156	0.265533924103	0.05568	T	0.017366	0.14179	T	-0.349369	0.04767	T	-0.638991	0.09743	T	0.0304478313946	0.02060	T	0.485551	0.14815	T	0.0482735	0.08386	0.04784695	0.06980	0.0482735	0.08386	0.04784695	0.06980	-6.213	0.48028	T	.	.	0.067	0.02518	B	.	.	1.591626	0.20356	14.71	0.93457918377650606	0.23243	0.30189	0.24018	N	AEFBI	0.060105	0.11399	N	-0.832522542244069	0.12484	0.6088217	-0.857284750410954	0.13113	0.6784326	0.992889777981219	0.33004	0.719381	0.83141	0	0.563428	0.19063	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.53	0.496	0.16103	0.109000	0.15252	0.433000	0.18345	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.371000	0.26133	0.145:0.5463:0.141:0.1678	2.951	0.05504	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2085.83	33	chr14	24409496	.	C	G	2085.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.34;DP=341;ExcessHet=0;FS=0.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.461;SOR=0.754	GT:AD:DP:GQ:PL	0/1:80,76:156:99:2096,0,2352	5	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T	.	415	1085	22	0	0	22	0.0100365	.	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.030303	0.019022	0.017544	0.000000	0.008621	0.006098	0.000000	0.08333	1747.83	95	chr14	24414693	.	C	A	1747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.104;DP=276;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.42;SOR=0.468	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1402	5	0	1	0
chr14	26479985	26479985	T	A	exonic	NOVA1	.	nonsynonymous SNV	NOVA1:NM_001366392:exon3:c.A436T:p.I146F,NOVA1:NM_001366393:exon3:c.A328T:p.I110F,NOVA1:NM_001366394:exon3:c.A328T:p.I110F,NOVA1:NM_001366397:exon3:c.A73T:p.I25F,NOVA1:NM_001366398:exon3:c.A73T:p.I25F,NOVA1:NM_002515:exon3:c.A439T:p.I147F,NOVA1:NM_006489:exon3:c.A439T:p.I147F,NOVA1:NM_006491:exon3:c.A439T:p.I147F,NOVA1:NM_001366390:exon4:c.A73T:p.I25F,NOVA1:NM_001366391:exon4:c.A73T:p.I25F,NOVA1:NM_001366395:exon4:c.A73T:p.I25F,NOVA1:NM_001366396:exon4:c.A73T:p.I25F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0142680739496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.68238	T	0.702	0.61642	T	0.358	0.51899	B	0.056	0.46572	B	0.000004	0.62929	D	0.000000	0.999988	0.58761	D	.	.	.	-0.03	0.63077	T	-0.53	0.47514	N	0.318	0.54496	-0.9236	0.45056	T	0.153	0.48274	T	10	0.23617679	0.40694	T	0.014268	0.34274	T	0.107	0.30369	.	.	0.243187853663	0.23924	0.5888855550744568	0.58818	1.06954850592	0.76764	0.785284996033	0.79727	T	0.038894	0.25002	T	-0.00188073	0.51394	T	-0.240478	0.50752	T	0.840488851070404	0.49367	D	0.953405	0.87955	D	.	.	.	.	.	.	.	.	-4.269	0.30454	T	.	.	0.202	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.509256	0.49139	22.7	0.97816796564827746	0.36168	0.95968	0.66939	D	AEFBI	0.841889	0.75904	D	0.0435257875118338	0.43846	2.669578	0.218878901315161	0.50894	3.276902	0.988169421284569	0.31434	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.61	5.61	0.85347	4.956000	0.63350	7.891000	0.73051	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.798	0.78201	951	0.11083	.;.;.;K Homology domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	876.83	34	chr14	26479985	.	T	A	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.521;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.108;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	5	0	1	0
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K	.	424	1065	32	1	0	34	0.0157116	.	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016129	0.035354	0.016304	0.005848	0.000000	0.017241	0.021472	0.003788	0.1667	2287.06	33	chr14	32600736	.	G	A	2287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.777;DP=356;ExcessHet=0.4139;FS=1.051;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.016;SOR=0.601	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1006,0,1155	4	0	2	0
chr14	33774394	33774394	G	A	exonic	NPAS3	.	nonsynonymous SNV	NPAS3:NM_001165893:exon7:c.G820A:p.V274I,NPAS3:NM_022123:exon7:c.G814A:p.V272I,NPAS3:NM_001164749:exon8:c.G910A:p.V304I,NPAS3:NM_173159:exon8:c.G871A:p.V291I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0100704251111	.	0.000399361	0.0001	0.0006	8.637e-05	0	0.0003	0	0	0.0003	0.0001164	18	154602	rs146677388	5.952e-05	5.951e-05	5.173e-05	6.738e-05	0.0005	4.883e-05	4.562e-05	0.0003	0.0003	0.0005	0.0002	0	0	9.36e-05	0.0002	2.968e-05	9.936e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0002	0	0	9.422e-05	0	2.94e-05	0	0	0.128	0.30656	T	0.239	0.27679	T	0.011	0.19245	B	0.01	0.14941	B	0.000031	0.55875	D	0.069730	1	0.81001	D	1.7	0.43825	L	3.48	0.07024	T	-0.32	0.12283	N	0.274	0.38335	-1.0337	0.19268	T	0.026	0.11087	T	10	0.056904346	0.06453	T	0.01007	0.26169	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.49650296973735303	0.49571	0.630830873063	0.57057	0.627574086189	0.56801	T	0.005867	0.32199	T	-0.388018	0.02770	T	-0.478982	0.24554	T	0.0510794892907143	0.05689	T	0.842916	0.53996	T	0.10905936	0.25784	0.1366592	0.32687	0.15496616	0.35047	0.15441456	0.36241	-5.77	0.46447	T	.	.	0.070	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	3.683325	0.52444	23.2	0.99633144280058195	0.76142	0.98781	0.86770	D	AEFBI	0.857286	0.77463	D	0.123913392129609	0.47579	2.98175	0.328984456978409	0.57249	3.890001	1.0	0.98316	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.69	5.69	0.88346	8.072000	0.89294	5.858000	0.50403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.806	0.96527	898	0.25240	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1735.83	40	chr14	33774394	.	G	A	1735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.277;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1292	5	0	1	0
chr14	34776143	34776143	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_182648:exon17:c.A2513G:p.N838S,BAZ1A:NM_013448:exon18:c.A2609G:p.N870S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00566538728155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.06824	T	0.396	0.15206	T	0.0	0.02946	B	0.002	0.06944	B	0.028629	0.25574	N	0.456770	0.997072	0.22800	N	0.345	0.11182	N	-0.59	0.71662	T	-1.12	0.32185	N	0.115	0.12627	-1.0106	0.26729	T	0.095	0.35924	T	10	0.030838162	0.01213	T	0.005665	0.14651	T	0.153	0.40148	0.15	0.05339	0.337947466952	0.33407	0.13818559680344544	0.13742	0.325458230443	0.34698	0.241657584906	0.02942	T	0.023852	0.18130	T	-0.249273	0.14188	T	-0.59584	0.13163	T	0.0380850027632306	0.03347	T	0.785321	0.42297	T	0.010853869	0.00011	0.02101126	0.00168	0.010853869	0.00011	0.02101126	0.00168	-2.226	0.04168	T	.	.	0.066	0.02118	B	.;.;.	.;.;.	0.180162	0.05678	2.126	0.39745307167928684	0.02762	0.23308	0.22034	N	AEFDBHCI	0.061704	0.11816	N	-1.18607860888571	0.05210	0.2369651	-1.16024184279926	0.06586	0.3175015	0.950593025238261	0.27904	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.88	0.05342	0.225000	0.17538	-0.206000	0.10898	0.660000	0.55035	0.044000	0.21163	0.527000	0.25341	0.923000	0.45890	0.2371:0.2202:0.2453:0.2973	0.177	0.00110	958	0.09170	.;WHIM2 domain;WHIM2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2049.83	182	chr14	34776143	.	T	C	2049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=359;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.275;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	5	0	1	0
chr14	35689851	35689851	C	T	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001283043:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001330075:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346243:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346246:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346248:exon17:c.G2419A:p.V807I,RALGAPA1:NM_014990:exon17:c.G2419A:p.V807I,RALGAPA1:NM_194301:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001283044:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346245:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346247:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346249:exon18:c.G2560A:p.V854I	.	725	796	1	0	0	1	0.000627746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.030283371086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27904	T	0.533	0.26386	T	0.304	0.44504	B	0.072	0.44145	B	0.000026	0.55875	D	0.119203	0.976716	0.39301	D	.	.	.	-3.37	0.94210	D	-0.38	0.15379	N	0.176	0.19728	0.339	0.88171	D	0.708	0.89944	D	10	0.23672855	0.40759	T	0.030283	0.52630	D	0.319	0.64112	0.149	0.05238	0.636924601929	0.63393	0.1875806999833343	0.18676	0.825580734265	0.67386	0.440639585257	0.30664	T	0.013644	0.11764	T	0.05461	0.58933	T	-0.159333	0.58413	T	0.941145002841949	0.61412	D	0.963704	0.86510	D	0.083430745	0.19267	0.09890448	0.23595	0.083430745	0.19267	0.09890448	0.23594	-3.669	0.19673	T	0.23637029680836424	0.32007	0.098	0.22135	B	.;.;.;.;.	.;.;.;.;.	4.120576	0.61586	24.4	0.98533538465680159	0.42620	0.96236	0.68162	D	AEFDGBI	0.391567	0.46996	N	0.182625503685076	0.50364	3.227208	0.341162687793885	0.57978	3.96578	1.0	0.98316	0.489673	0.17934	0	0.596877	0.49441	0	0.602189	0.34648	0	0.662433	0.64102	0	.	.	5.9	5.9	0.94952	3.102000	0.49982	4.948000	0.46261	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.279	0.98503	567	0.70732	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	725.83	34	chr14	35689851	.	C	T	725.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.532;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.26;MQRankSum=-0.6;QD=16.13;ReadPosRankSum=-1.131;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	5	0	1	0
chr14	37546951	37546951	A	G	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon14:c.A1309G:p.T437A,MIPOL1:NM_001195296:exon15:c.A1309G:p.T437A,MIPOL1:NM_001195297:exon15:c.A1309G:p.T437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0188765864035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181664065	2.053e-06	2.052e-06	0	4.127e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.55759	D	0.264	0.31602	B	0.124	0.32546	B	0.019623	0.27215	N	0.353536	0.997099	0.22793	N	1.79	0.46772	L	0.72	0.50976	T	-1.02	0.26843	N	0.088	0.14054	-0.9888	0.32903	T	0.097	0.36471	T	10	0.14235258	0.27039	T	0.018877	0.41084	T	0.077	0.22490	0.2	0.11384	0.567966986597	0.56460	0.3683352083514824	0.36747	0.140266988848	0.15812	0.365459948778	0.20178	T	0.064191	0.32370	T	-0.0709965	0.41167	T	-0.339758	0.40372	T	0.566728559229715	0.35110	D	0.579642	0.20943	T	0.040852066	0.05909	0.0536786	0.09090	0.040852066	0.05908	0.0536786	0.09089	-6.547	0.50648	T	.	.	0.094	0.14339	B	.;.;.;.	.;.;.;.	3.061257	0.41109	21.3	0.99642561245778771	0.76756	0.59532	0.30941	D	ALL	0.179336	0.30663	N	-0.113712474523953	0.36796	2.131738	-0.013957762809401	0.39083	2.312047	0.999999999999984	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.96	2.24	0.27264	2.730000	0.47007	1.863000	0.29335	0.756000	0.94297	1.000000	0.71638	0.468000	0.25038	0.996000	0.76049	0.6976:0.1224:0.0632:0.1167	4.987	0.13538	664	0.61548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	753.83	34	chr14	37546951	.	A	G	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=236;ExcessHet=0;FS=8.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.911;SOR=0.966	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1231	5	0	1	0
chr14	37841589	37841589	T	C	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001368142:exon12:c.T1345C:p.W449R,TTC6:NM_001310135:exon32:c.T5491C:p.W1831R	.	439	1073	9	1	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0226382290152	0.0035	0.00259585	0.0025	0.0075	0.0017	0	0.0032	0.0025	0.0034	0.0011	0.0023868	369	154602	rs61740232	0.0015	0.0015	0.0015	0.0015	0.0098	0.0015	0.0014	0.0077	0.0071	0.0082	0.0015	0.0026	0	0.0029	0.0098	0.0012	0.0020	0.0012	0.0033	0.0033	0.0034	0.0032	0.0073	0.0031	0.0030	0.0067	0.0064	0.0073	0	0.0029	0.0046	0	0.0022	0.0102	0.0015	0.0009	0.0012	0.36	0.11919	T	0.015	0.61642	D	0.997	0.70673	D	0.963	0.70837	D	0.000137	0.49741	D	0.078270	.	.	.	0.48	0.13178	N	0.05	0.61923	T	-3.98	0.84457	D	0.856	0.85238	-0.6310	0.63528	T	0.202	0.55933	T	9	0.008994997	0.00203	T	0.022638	0.45547	T	0.398	0.71242	0.608	0.74063	0.79643058766	0.79453	.	.	0.296570310644	0.32047	0.548822760582	0.45691	T	0.086838	0.39135	T	-0.260193	0.12877	T	-0.14182	0.59961	T	0.0297972776879124	0.01957	T	0.725927	0.34027	T	0.51988053	0.68252	0.5044012	0.71353	0.51988053	0.68253	0.5044012	0.71354	-3.335	0.14193	T	.	.	0.701	0.73016	P	.;.;.;.	.;.;.;.	3.694143	0.52654	23.3	0.9777056866550965	0.35869	0.91010	0.52685	D	AEFI	0.691642	0.65157	D	0.398751544099521	0.61355	4.335398	0.42698762271908	0.63251	4.555332	0.999983345540698	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.147000	0.64694	7.820000	0.69717	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.889	0.63228	578	0.69858	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	341.83	33	chr14	37841589	.	T	C	341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-1.426;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	5	0	1	0
chr14	45175375	45175375	T	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.T2543C:p.I848T,FANCM:NM_020937:exon14:c.T2621C:p.I874T	.	.	.	.	.	.	.	.	.	.	.	841438	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00084438953799	.	.	8.455e-06	0	8.721e-05	0	0	0	0	0	6.5e-06	1	154602	rs774139592	2.271e-05	2.258e-05	1.272e-05	3.279e-05	0.0004	1.643e-05	1.406e-05	6.315e-05	3.62e-05	0	0	0	0	0	0.0004	1.942e-05	1.716e-05	0.0001	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.086	0.32610	T	0.369	0.44501	T	0.097	0.25541	B	0.016	0.17743	B	0.010839	0.01288	N	2.246270	1	0.08975	N	0	0.06538	N	2.86	0.17596	T	-0.93	0.27669	N	0.177	0.19055	-1.0204	0.23584	T	0.021	0.08870	T	10	0.07447937	0.11390	T	8.44E-4	0.00713	T	0.036	0.09122	.	.	0.221734844693	0.21761	0.061482601137988716	0.06088	0.108240947712	0.12206	0.31266862154	0.12310	T	0.05135	0.28854	T	-0.423366	0.01629	T	-0.728461	0.04398	T	0.0658603724887803	0.08058	T	0.525647	0.17278	T	0.04033274	0.05739	0.03454563	0.02541	0.04033274	0.05738	0.03454563	0.02541	-3.841	0.21418	T	.	.	0.102	0.23675	B	.;.;.	.;.;.	-0.238364	0.02900	0.417	0.69690805168179526	0.09053	0.03479	0.08641	N	AEBI	0.059058	0.11125	N	-1.04428782386425	0.07700	0.3586068	-1.04482107633448	0.08815	0.435285	0.0416875949627673	0.14494	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.97	1.0	0.18999	-0.659000	0.05423	-0.218000	0.10790	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.2459:0.1144:0.1609:0.4788	0.777	0.00968	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	2658.06	34	chr14	45175375	.	T	C	2658.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.145;DP=336;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=2.2;SOR=0.668	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1182,0,1007	4	0	2	0
chr14	50201043	50201043	C	G	exonic	SOS2	.	nonsynonymous SNV	SOS2:NM_006939:exon3:c.G255C:p.W85C	Noonan syndrome 9, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	0.217889650577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-1.9	0.84628	D	-11.33	0.99407	D	0.914	0.91621	0.705	0.93236	D	0.783	0.92621	D	10	0.84055686	0.83211	D	0.21789	0.87631	D	0.873	0.96207	0.552	0.66856	0.814105034827	0.81235	0.8317910279672358	0.83138	1.97721070638	0.93612	0.953378796577	0.99817	D	0.708476	0.91665	D	0.446435	0.92319	D	0.403496	0.92225	D	0.999515175819397	0.97717	D	0.992201	0.98745	D	0.9194583	0.93195	0.88998944	0.94266	0.9194583	0.93196	0.88998944	0.94266	-10.554	0.77157	D	0.7428761047561503	0.82496	1.000	0.99585	P	.;.	.;.	5.189249	0.87026	29.1	0.9926454252364264	0.57322	0.98902	0.88388	D	AEFBI	0.899860	0.84473	D	0.87958812349528	0.90724	10.53597	0.842079368808883	0.92545	11.48861	0.999999999849753	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	7.893000	0.85877	7.612000	0.61951	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.400	0.94616	459	0.78817	Histone H2A/H2B/H3;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	658.83	34	chr14	50201043	.	C	G	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.943;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=1.18;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	5	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.08333	648.83	41	chr14	50443957	.	C	G	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.675;DP=247;ExcessHet=0;FS=2.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.644;SOR=1.063	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	5	0	1	0
chr14	50756886	50756886	G	C	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon18:c.C4144G:p.H1382D,NIN:NM_182944:exon18:c.C4144G:p.H1382D,NIN:NM_182946:exon18:c.C4144G:p.H1382D	.	9	1497	16	0	0	16	0.00531561	.	.	.	2091525	not_provided|NIN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.071	.	.	0.00698882	0.0110	0.0007	0.0037	0.0013	0	0	0.0047	0.0305	0.0024579	380	154602	rs546908598	0.0016	0.0017	0.0009	0.0024	0.0269	0.0016	0.0016	0.0259	0.0255	0	5.579e-05	0	2.787e-05	2.011e-05	0.0019	5.186e-05	0.0015	0.0269	0.0009	0.0009	0.0006	0.0012	0.0286	0.0008	0.0008	0.0248	0.0233	0	0	6.534e-05	0	0.0002	0	0	0	0.0005	0.0286	0.159	0.65419	T	0.542	0.15109	T	0.082	0.26577	B	0.058	0.26451	B	0.948615	0.07640	N	1.022000	1	0.08975	N	1.905	0.50856	L	3.5	0.06931	T	-2.14	0.64826	N	0.352	0.47301	-1.0079	0.27572	T	0.125	0.42987	T	10	0.0030695498	0.00051	T	.	.	.	0.071	0.20720	.	.	0.386395597597	0.38251	0.19714892489671657	0.19631	0.20977462565	0.23452	0.227173894644	0.01766	T	0.030069	0.21402	T	-0.493551	0.00622	T	-0.460779	0.26514	T	0.024850427341836	0.01253	T	0.805019	0.45286	T	0.14870267	0.33935	0.13659291	0.32672	0.11017169	0.26042	0.11440207	0.27614	-2.861	0.08759	T	.	.	0.111	0.21503	B	.;.;.;.	.;.;.;.	0.916396	0.12909	9.420	0.84300232834108746	0.15212	0.29613	0.23868	N	AEFGBCI	0.091808	0.18592	N	-0.336608419728441	0.27767	1.526117	-0.457149651979535	0.23346	1.272683	0.999968616000337	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	3.09	0.34677	1.315000	0.33214	3.218000	0.36838	0.676000	0.76740	0.002000	0.15269	0.354000	0.24487	0.010000	0.09038	0.2006:0.0:0.7994:0.0	8.700	0.33484	435	0.80441	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004752	0.000000	0.001441	0.000000	0.000000	0.000000	0.000000	0.027344	0.08333	1391.83	33	chr14	50756886	.	G	C	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=269;ExcessHet=0;FS=3.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.811;SOR=0.443	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,107,1620	5	0	1	0
chr14	50901857	50901857	G	A	exonic	ABHD12B	.	nonsynonymous SNV	ABHD12B:NM_181814:exon8:c.G578A:p.R193H,ABHD12B:NM_181533:exon9:c.G488A:p.R163H,ABHD12B:NM_001206673:exon10:c.G809A:p.R270H	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00576809820441	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002264	35	154602	rs528682615	0.0001	0.0001	5.396e-05	0.0002	0.0018	9.83e-05	9.3e-05	0.0016	0.0015	3.108e-05	0	0	0	0	0	8.144e-06	0.0001	0.0018	7.904e-05	8.539e-05	3.865e-05	0.0001	0.0021	4.507e-05	3.52e-05	0.0011	0.0009	0	0	0	0	0	9.513e-05	0	1.472e-05	0	0.0021	0.455	0.08865	T	0.542	0.09690	T	0.011	0.20732	B	0.009	0.19653	B	0.462560	0.12373	N	0.762041	1	0.08975	N	1.895	0.50365	L	2.05	0.45248	T	-0.41	0.14978	N	0.084	0.06059	-1.0111	0.26573	T	0.040	0.17106	T	10	0.008230567	0.00187	T	0.005768	0.14982	T	0.028	0.06331	0.585	0.71245	0.163833314356	0.15978	0.6234428230642683	0.62277	0.0852180447712	0.09633	0.205771654844	0.00644	T	0.003298	0.02708	T	-0.578242	0.00198	T	-0.610644	0.11932	T	0.00895745783929578	0.00112	T	0.636736	0.26451	T	0.024280123	0.01244	0.029675461	0.01332	0.024280123	0.01243	0.029675461	0.01332	-4.539	0.33319	T	.	.	0.076	0.06159	B	.;.	.;.	1.324168	0.17287	13.07	0.67766861812829815	0.08454	0.04561	0.10203	N	AEFBI	0.058406	0.10956	N	-1.34876352078021	0.03138	0.1396852	-1.3541391797667	0.03757	0.1759315	0.109150710585066	0.16600	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.24	-2.2	0.06601	-0.333000	0.07938	-0.156000	0.11370	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.5129:0.0:0.3378:0.1493	5.076	0.13968	365	0.84644	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	272.83	45	chr14	50901857	.	G	A	272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=232;ExcessHet=0;FS=1.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.122;SOR=0.96	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1154	5	0	1	0
chr14	52029681	52029681	T	C	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon10:c.A2267G:p.D756G	.	427	1049	44	2	0	48	0.0223672	.	.	.	714155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.175	0.0298600810484	0.0064	0.00219649	0.0056	0.0018	0.0069	0	0.0014	0.0078	0.0044	0.0029	0.0057114	883	154602	rs150908602	0.0076	0.0077	0.0076	0.0075	0.0162	0.0075	0.0074	0.0135	0.0125	0.0014	0.0071	0.0196	2.519e-05	0.0011	0.0162	0.0084	0.0072	0.0032	0.0056	0.0056	0.0062	0.0051	0.0077	0.0053	0.0052	0.0072	0.0070	0.0020	0	0.0077	0.0245	0	0.0013	0.0204	0.0077	0.0071	0.0027	0.356	0.12070	T	0.319	0.19188	T	0.0	0.02946	B	0.001	0.04355	B	0.946080	0.08320	N	0.978805	1	0.08975	N	1.085	0.27262	L	-1.88	0.84487	D	-0.25	0.11008	N	0.103	0.10769	-0.8730	0.50302	T	0.285	0.65734	T	10	0.0043874383	0.00089	T	0.02986	0.52286	D	0.175	0.44197	.	.	0.611077749297	0.60794	0.38317757421189813	0.38232	0.120734834091	0.13598	0.273806035519	0.06642	T	0.06502	0.32582	T	-0.390793	0.02658	T	-0.323736	0.42164	T	0.000971250761758706	0.00009	T	0.573543	0.20534	T	0.056617737	0.11161	0.042697497	0.05145	0.056617737	0.11161	0.042697497	0.05144	-3.27	0.13353	T	.	.	0.088	0.13923	B	.;.	.;.	0.288210	0.06644	3.145	0.92819811633804061	0.22348	0.05710	0.11632	N	AEFBI	0.083509	0.16918	N	-1.08950251002837	0.06835	0.3158111	-1.12361186562099	0.07250	0.3519886	0.999639889020145	0.41205	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.563494	0.21769	0	.	.	5.68	-1.15	0.09211	0.065000	0.14336	-0.308000	0.10061	0.660000	0.55035	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.1963:0.3601:0.4436	6.380	0.20735	896	0.25515	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.005051	0.029891	0.011696	0.000000	0.034483	0.015244	0.011364	0.08333	2128.83	97	chr14	52029681	.	T	C	2128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.46;DP=665;ExcessHet=0;FS=1.525;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.44;SOR=0.91	GT:AD:DP:GQ:PL	0/1:68,71:139:99:2139,0,1816	5	0	1	0
chr14	52038828	52038828	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon9:c.G2176A:p.V726M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2810421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0042	0.000998403	0.0043	0.0009	0.0004	0	0.0133	0.0060	0.0077	0.0005	0.0042755	661	154602	rs35147930	0.0051	0.0051	0.0051	0.0051	0.0057	0.0050	0.0049	0.0056	0.0055	0.0006	0.0005	0.0020	0	0.0132	0.0009	0.0057	0.0038	0.0008	0.0042	0.0042	0.0040	0.0045	0.0065	0.0040	0.0039	0.0060	0.0058	0.0008	0.0022	0.0008	0.0032	0.0002	0.0128	0.0034	0.0065	0.0033	0.0004	0.117	0.28271	T	0.173	0.31326	T	1.0	0.90584	D	0.913	0.64886	D	0.000000	0.84330	D	0.050316	0.975929	0.39231	D	2.045	0.56016	M	1.58	0.29085	T	-1.94	0.45042	N	0.271	0.38848	-0.7799	0.56308	T	0.144	0.46750	T	10	0.007125318	0.00162	T	.	.	.	0.172	0.43662	.	.	0.618703310563	0.61561	0.3708556932472328	0.36999	0.451365656779	0.44884	0.610292315483	0.54357	T	0.208649	0.56864	T	-0.302387	0.08436	T	-0.196747	0.54955	T	0.0161752719416806	0.00392	T	0.907309	0.67223	D	0.10030298	0.23683	0.11063015	0.26677	0.10030298	0.23683	0.11063015	0.26676	-8.821	0.66538	D	.	.	0.321	0.54573	B	.;.	.;.	3.208029	0.43659	21.8	0.99815902589045236	0.89885	0.90301	0.51368	D	AEFBI	0.228973	0.35257	N	0.44057203458871	0.63670	4.605323	0.388323099863335	0.60845	4.276747	0.999969143106219	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.29	0.74430	2.768000	0.47329	4.867000	0.45528	0.594000	0.32500	0.987000	0.36337	0.986000	0.30841	0.531000	0.29730	0.0:0.9331:0.0:0.0669	15.444	0.74935	899	0.25060	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2083.04	37	chr14	52038828	.	C	T	2083.04	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.53;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	5	1	0	0
chr14	55010375	55010375	C	T	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_007086:exon4:c.G275A:p.R92H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.138161929255	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775370465	3.833e-05	4.036e-05	3.677e-05	3.99e-05	6.967e-05	3.027e-05	2.72e-05	3.344e-05	2.957e-05	0	0	0	0	3.745e-05	0	4.318e-05	0	6.967e-05	3.287e-05	3.284e-05	5.142e-05	1.346e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	5.03	0.80899	T	-4.64	0.82221	D	0.735	0.73555	0.538	0.91066	D	0.712	0.90108	D	10	0.8235682	0.81546	D	0.138162	0.82066	D	0.536	0.80545	0.619	0.75347	0.93371648204	0.93303	0.4475210251334324	0.44670	0.306553085064	0.32958	0.787533164024	0.80067	T	0.147252	0.48525	T	0.289347	0.82102	D	0.193336	0.82758	D	0.99904066324234	0.95989	D	0.952805	0.89317	D	0.7278452	0.79602	0.49716204	0.70923	0.7278452	0.79603	0.49716204	0.70924	-13.406	0.90966	D	.	.	0.811	0.77797	P	.;.	.;.	5.230146	0.87791	29.4	0.99932562117508938	0.99439	0.98953	0.89101	D	AEFDBI	0.869588	0.79018	D	0.847273330292301	0.88951	9.776179	0.811001188809799	0.90549	10.45763	0.999999995423652	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.45	5.45	0.79688	7.302000	0.78184	5.888000	0.50725	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.294	0.94099	720	0.55521	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	398.83	26	chr14	55010375	.	C	T	398.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.586;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.288;SOR=0.701	GT:AD:DP:GQ:PL	0/1:21,19:40:99:409,0,487	5	0	1	0
chr14	56580050	56580050	C	A	exonic	TMEM260	.	nonsynonymous SNV	TMEM260:NM_017799:exon1:c.C136A:p.P46T	.	.	.	.	.	.	.	.	.	.	.	3210054	TMEM260-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.270	.	.	0.00159744	0.0032	0	0	0.0359	0	0	0	0	0.0003881	60	154602	rs201059587	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0060	0.0057	0	0	0	0.0069	0	0	3.903e-05	0.0002	0.0004	0.0004	0.0004	0.0003	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	0	0	0.0100	0	0	2.94e-05	0	0.0002	0.03	0.45393	D	0.276	0.21947	T	0.455	0.36245	P	0.193	0.36509	B	0.000383	0.44960	D	0.148595	1	0.81001	D	3.245	0.89746	M	0.97	0.57100	T	-5.1	0.83027	D	0.39	0.43126	-1.0003	0.29831	T	0.083	0.32499	T	10	0.007736057	0.00176	T	.	.	.	0.270	0.58507	.	.	0.132336055621	0.12781	0.5295083798534944	0.52874	0.0719212847371	0.08059	0.58694589138	0.51064	T	0.309444	0.68147	T	-0.212933	0.18968	T	-0.0663166	0.65888	T	0.304886422831979	0.25205	T	0.855914	0.55677	D	0.40479988	0.61063	0.43746042	0.67165	0.40479988	0.61064	0.43746042	0.67165	-9.628	0.73087	D	.	.	0.134	0.29116	B	.;.	.;.	3.621188	0.51243	23.1	0.98397011259247125	0.41020	0.81082	0.40563	D	AEFDGBHCI	0.300634	0.40937	N	-0.280085291483415	0.29918	1.663432	-0.200013913425022	0.31536	1.785679	0.999999999986473	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.26	4.38	0.52019	3.199000	0.50745	6.054000	0.53115	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.9186:0.0:0.0814	12.636	0.56043	853	0.34956	.;.	.	.	.	.	.	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	0.002083	0.000000	0.000000	0.002941	0.000000	0.000000	0.003205	0.003846	0.08333	239.83	33	chr14	56580050	.	C	A	239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.489;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-2.259;SOR=0.937	GT:AD:DP:GQ:PL	0/1:20,12:32:99:250,0,564	5	0	1	0
chr14	57269330	57269330	G	A	exonic	AP5M1	.	nonsynonymous SNV	AP5M1:NM_018229:exon1:c.G16A:p.V6M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0121	0.0123802	0.0030	0.0342	0.0010	0	0	0	0	0	0.0029107	450	154602	rs34722917	0.0010	0.0010	0.0011	0.0009	0.0389	0.0010	0.0010	0.0371	0.0364	0.0389	0.0011	0	0	0	0.0009	1.709e-05	0.0017	2.319e-05	0.0095	0.0095	0.0099	0.0090	0.0335	0.0091	0.0089	0.0320	0.0315	0.0335	0	0.0021	0	0	0	0	0.0001	0.0057	0	0.039	0.42487	D	0.032	0.53426	D	0.003	0.11197	B	0.005	0.11217	B	0.000402	0.44736	N	0.198494	0.551794	0.32139	D	1.59	0.40313	L	1.33	0.36146	T	-0.27	0.12283	N	0.162	0.17140	-1.0504	0.14285	T	0.016	0.06329	T	10	0.0055793524	0.00123	T	.	.	.	0.039	0.10176	.	.	0.437850553699	0.43404	0.40875554934818525	0.40791	0.113486424139	0.12814	0.448370069265	0.31721	T	0.004763	0.15193	T	-0.530213	0.00383	T	-0.506528	0.21672	T	0.0380032153363364	0.03332	T	0.809719	0.46038	T	0.04996854	0.08955	0.100128196	0.23930	0.04996854	0.08955	0.100128196	0.23929	-6.089	0.47018	T	.	.	0.220	0.56599	B	.;.	.;.	2.758766	0.36180	20.2	0.99803478320220451	0.88817	0.08725	0.14612	N	ALL	0.079840	0.16132	N	-0.426781437644193	0.24533	1.325406	-0.344254631075731	0.26687	1.475702	0.999999999622678	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.93	1.55	0.22356	0.534000	0.22807	1.434000	0.26471	0.676000	0.76740	0.690000	0.28531	0.854000	0.27420	0.672000	0.33309	0.1793:0.4389:0.3818:0.0	6.474	0.21223	743	0.52768	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	699.83	33	chr14	57269330	.	G	A	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=236;ExcessHet=0;FS=0.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.296;SOR=0.52	GT:AD:DP:GQ:PL	0/1:35,31:66:99:710,0,878	5	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	67.94	35	chr14	58138194	.	A	G	67.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.995;DP=483;ExcessHet=0;FS=64.663;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=-0.983;SOR=5.89	GT:AD:DP:GQ:PL	0/0:105,0:105:78:0,78,2536	5	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:36,18:54:87:87,0,647	1	0	5	0
chr14	58442717	58442717	T	C	exonic	KIAA0586	.	startloss	KIAA0586:NM_001244193:exon2:c.T2C:p.M1?,KIAA0586:NM_001244191:exon5:c.T167C:p.M56T,KIAA0586:NM_001329943:exon5:c.T422C:p.M141T,KIAA0586:NM_001329944:exon5:c.T422C:p.M141T,KIAA0586:NM_001329945:exon5:c.T167C:p.M56T,KIAA0586:NM_001329946:exon5:c.T422C:p.M141T,KIAA0586:NM_001329947:exon5:c.T422C:p.M141T,KIAA0586:NM_001364700:exon5:c.T167C:p.M56T,KIAA0586:NM_001364701:exon5:c.T167C:p.M56T,KIAA0586:NM_014749:exon5:c.T422C:p.M141T,KIAA0586:NM_001244190:exon6:c.T377C:p.M126T,KIAA0586:NM_001244192:exon6:c.T290C:p.M97T,KIAA0586:NM_001244189:exon7:c.T581C:p.M194T	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	436	1083	3	0	0	3	0.00138313	.	.	YES	364136	not_provided|Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly	MedGen:C3661900|MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.00259585	0.0100	0.0035	0.0107	0	0.0085	0.0172	0.0036	0.0026	0.0045666	706	154602	rs61735931	0.0069	0.0069	0.0070	0.0068	0.0079	0.0068	0.0067	0.0077	0.0077	0.0010	0.0035	0.0108	0	0.0062	0.0021	0.0079	0.0060	0.0014	0.0052	0.0052	0.0058	0.0046	0.0081	0.0049	0.0048	0.0075	0.0073	0.0012	0	0.0043	0.0147	0	0.0048	0.0068	0.0081	0.0071	0.0008	0.141	0.26085	T	0.184	0.29442	T	0.003	0.11197	B	0.003	0.08700	B	0.412455	0.12978	N	0.743522	0.987928	0.24466	N	1.79	0.46772	L	0.94	0.43672	T	-1.49	0.45404	N	0.317	0.35727	-1.0558	0.12829	T	0.085	0.33071	T	10	0.0061211884	0.00138	T	.	.	.	0.035	0.08770	.	.	0.419461527279	0.41563	0.034933630361693745	0.03440	0.0364822909978	0.03857	0.482556223869	0.36409	T	0.023084	0.40296	T	-0.479391	0.00745	T	-0.450357	0.27659	T	0.00490807195953198	0.00053	T	0.646135	0.25853	T	0.09033674	0.21136	0.093738094	0.22154	0.06946821	0.15223	0.10741381	0.25858	-2.147	0.04331	T	0.37788781660577664	0.47266	0.190	0.40873	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.672116	0.21320	15.15	0.96982581546983893	0.31867	0.48486	0.28218	N	AEFBI	0.022072	0.01058	N	-0.322423808021038	0.28299	1.559688	-0.216178237081725	0.30954	1.747468	0.630434974327654	0.21963	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	1.29	0.20717	0.497000	0.22222	3.417000	0.38227	0.665000	0.62972	0.717000	0.28791	1.000000	0.68203	0.987000	0.62547	0.0:0.2821:0.209:0.5089	3.305	0.06586	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004036	0.010101	0.002717	0.005882	0.050000	0.000000	0.003067	0.000000	0.08333	889.83	63	chr14	58442717	.	T	C	889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=235;ExcessHet=0;FS=2.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.521;SOR=0.389	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	5	0	1	0
chr14	58487145	58487145	A	C	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244193:exon19:c.A2863C:p.K955Q,KIAA0586:NM_014749:exon21:c.A3055C:p.K1019Q,KIAA0586:NM_001244191:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001329943:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329944:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329945:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001329946:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001329947:exon22:c.A3283C:p.K1095Q,KIAA0586:NM_001364700:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001364701:exon22:c.A3028C:p.K1010Q,KIAA0586:NM_001244190:exon23:c.A3238C:p.K1080Q,KIAA0586:NM_001244192:exon23:c.A3151C:p.K1051Q,KIAA0586:NM_001244189:exon24:c.A3442C:p.K1148Q	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	427	1082	13	0	0	13	0.00597152	.	.	.	429581	not_provided|Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly|KIAA0586-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	.	0.0032	0.00439297	0.0023	0.0101	0.0013	0	0	0.0007	0.0022	0.0069	0.0019987	309	154602	rs140565291	0.0009	0.0009	0.0007	0.0012	0.0091	0.0009	0.0009	0.0083	0.0080	0.0091	0.0015	0.0019	5.04e-05	0	0.0040	0.0002	0.0016	0.0074	0.0034	0.0034	0.0032	0.0036	0.0100	0.0031	0.0030	0.0092	0.0089	0.0100	0	0.0017	0.0020	0	0	0	0.0003	0.0019	0.0081	0.153	0.29823	T	0.171	0.30339	T	0.194	0.29493	B	0.107	0.31211	B	0.123285	0.18924	N	0.547984	1	0.08975	N	2.25	0.63811	M	0.72	0.50976	T	-1.81	0.45042	N	0.208	0.23125	-1.0392	0.17556	T	0.096	0.36185	T	10	0.0059957504	0.00135	T	.	.	.	0.021	0.04004	.	.	0.225902525712	0.22197	0.1196008008462466	0.11887	0.0881719619469	0.09959	0.344280302525	0.17077	T	0.027943	0.43140	T	-0.541992	0.00326	T	-0.544062	0.17899	T	0.011756925480172	0.00181	T	0.774123	0.40598	T	0.058359217	0.11731	0.0374547	0.03401	0.051227033	0.09376	0.039019693	0.03900	-3.761	0.22092	T	0.5222751351253089	0.59436	0.123	0.26388	B	.;.;.;.;.;.	.;.;.;.;.;.	0.376937	0.07489	4.132	0.81928919189485072	0.13931	0.22691	0.21831	N	AEFBI	0.037618	0.05201	N	-0.730905057182507	0.15156	0.7614148	-0.786998738853719	0.14814	0.776008	0.60447148366141	0.21754	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.33	1.33	0.20958	0.599000	0.23788	1.104000	0.24096	-0.050000	0.17177	0.069000	0.22043	0.473000	0.25062	0.007000	0.07825	0.4944:0.4178:0.0878:0.0	6.393	0.20798	802	0.44336	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.005051	0.000000	0.005848	0.000000	0.008621	0.000000	0.007576	0.08333	776.83	38	chr14	58487145	.	A	C	776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.105;DP=248;ExcessHet=0;FS=1.141;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.239;SOR=0.495	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr14	59932022	59932022	C	G	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon6:c.C526G:p.Q176E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0297966943791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.29	0.21011	T	.	.	.	.	.	.	.	.	.	.	0.949647	0.26530	N	.	.	.	0.47	0.56114	T	-0.83	0.22727	N	0.131	0.12627	.	.	.	.	.	.	.	0.18517718	0.33927	T	0.029797	0.52238	D	.	.	.	.	0.45746916685	0.45369	0.31310385813983677	0.31223	.	.	.	.	.	0.00219	0.01594	T	-0.15926	0.26873	T	-0.466542	0.25889	T	.	.	.	0.762924	0.38892	T	0.14076339	0.32464	0.17997512	0.40766	0.14076339	0.32463	0.17997512	0.40766	-6.004	0.46313	T	.	.	0.092	0.13503	B	.;.	.;.	3.173889	0.43051	21.7	0.97576812619139519	0.34714	0.78723	0.38883	D	AEFBI	0.306148	0.41338	N	.	.	.	.	.	.	6.61078416532104E-4	0.07551	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	4.72	0.59248	1.867000	0.39137	2.622000	0.33640	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1454:0.7141:0.1405:0.0	10.848	0.45956	506	0.75555	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	449.83	33	chr14	59932022	.	C	G	449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.756;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.656;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr14	60124791	60124791	G	C	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon8:c.G1918C:p.D640H,PCNX4:NM_001330177:exon9:c.G2620C:p.D874H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0154762449571	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs112427833	7.528e-05	7.524e-05	6.264e-05	8.805e-05	0.0010	6.385e-05	5.941e-05	0.0005	0.0003	0	0	0.0002	0	0	0.0010	5.936e-05	0.0001	0.0003	7.224e-05	7.218e-05	6.424e-05	8.061e-05	0.0006	3.969e-05	3.126e-05	0.0002	9.003e-05	0	0	0	0.0003	0	0	0	7.351e-05	0.0009	0.0006	0.058	0.40068	T	0.104	0.41742	T	0.852	0.48942	P	0.27	0.44907	B	0.368433	0.13564	N	0.758330	1	0.08975	N	0.55	0.14455	N	1.91	0.23486	T	-1.45	0.35597	N	0.112	0.12484	-1.0549	0.13066	T	0.057	0.23904	T	10	0.04942599	0.04530	T	0.015476	0.36235	T	0.071	0.20720	.	.	0.0954503805726	0.09146	0.3637324328766041	0.36287	0.035151546196	0.03706	0.24453780055	0.03215	T	0.006659	0.13024	T	-0.487659	0.00670	T	-0.642073	0.09519	T	0.0266830568394097	0.01500	T	0.840516	0.51562	T	0.03719101	0.04720	0.044492107	0.05777	0.03719101	0.04719	0.044492107	0.05777	-3.98	0.23503	T	.	.	0.097	0.24396	B	.;.;.	.;.;.	0.542002	0.09104	5.889	0.95877695170220301	0.28065	0.07980	0.13962	N	AEFGBI	0.118464	0.23163	N	-0.692696069526573	0.16228	0.8249686	-0.844549667373089	0.13418	0.6959841	0.945752616716747	0.27675	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-0.72	0.10631	1.378000	0.33935	4.361000	0.43118	-0.272000	0.06708	0.038000	0.20882	0.801000	0.26950	0.006000	0.07323	0.5785:0.1374:0.2841:0.0	5.376	0.15468	604	0.67577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1692.83	164	chr14	60124791	.	G	C	1692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=352;ExcessHet=0;FS=0.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.095;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	5	0	1	0
chr14	60125773	60125773	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon9:c.A2515G:p.I839V,PCNX4:NM_001330177:exon10:c.A3217G:p.I1073V	.	440	1067	15	0	0	15	0.00697999	.	.	.	2810450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00536513960952	0.0031	0.00199681	0.0037	0.0003	0.0023	0.0001	0.0006	0.0051	0.0012	0.0042	0.0036481	564	154602	rs145320435	0.0043	0.0043	0.0044	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0006	0.0028	0.0084	5.064e-05	0.0008	0.0031	0.0048	0.0038	0.0042	0.0034	0.0034	0.0035	0.0033	0.0059	0.0032	0.0031	0.0049	0.0045	0.0008	0.0066	0.0059	0.0060	0.0002	0.0008	0.0068	0.0048	0.0052	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.006555	0.31955	N	0.323849	0.904636	0.31372	N	-0.865	0.01458	N	1.2	0.37405	T	0.19	0.04947	N	0.062	0.03392	-0.9402	0.42584	T	0.028	0.12058	T	10	0.0047587156	0.00101	T	0.005365	0.13740	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.21568530189674243	0.21484	0.0121069975682	0.01151	0.247376948595	0.03496	T	0.006	0.06325	T	-0.588198	0.00172	T	-0.615348	0.11554	T	0.000968958407932315	0.00009	T	0.708829	0.33490	T	0.013086097	0.00049	0.027401539	0.00891	0.013086097	0.00049	0.027401539	0.00891	-1.688	0.02198	T	.	.	0.057	0.01786	B	.;.;.	.;.;.	0.228112	0.06097	2.541	0.45324561751544662	0.03549	0.29507	0.23840	N	AEBI	0.086867	0.17613	N	-1.06073496432736	0.07378	0.3425786	-0.86521962427999	0.12922	0.6675214	0.86253732062461	0.25254	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-1.63	0.07900	1.496000	0.35246	-0.285000	0.10238	-0.648000	0.04400	0.998000	0.41325	0.011000	0.20116	0.939000	0.47918	0.2688:0.0:0.7312:0.0	13.361	0.60095	604	0.67577	Pecanex, C-terminal;Pecanex, C-terminal;Pecanex, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	467.83	37	chr14	60125773	.	A	G	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=234;ExcessHet=0;FS=4.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.928;SOR=1.46	GT:AD:DP:GQ:PL	0/1:35,20:55:99:478,0,833	5	0	1	0
chr14	60469597	60469597	T	C	exonic	C14orf39	.	nonsynonymous SNV	C14orf39:NM_174978:exon8:c.A611G:p.K204R	.	813	707	2	0	0	2	0.00141243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00299521	0.0011	0	0	0.0001	0	4.803e-05	0.0012	0.0078	0.0009185	142	154602	rs535593448	0.0004	0.0004	0.0002	0.0005	0.0060	0.0003	0.0003	0.0056	0.0054	0	0	0	2.704e-05	0	0.0017	2.452e-05	0.0004	0.0060	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	1.48e-05	0	0.0093	0.277	0.15665	T	0.61	0.07691	T	.	.	.	.	.	.	0.303803	0.14551	N	0.639362	0.99998	0.18612	N	.	.	.	1.84	0.24656	T	-0.8	0.22078	N	0.147	0.14905	-1.0276	0.21233	T	0.058	0.24204	T	10	0.004374087	0.00089	T	.	.	.	0.026	0.05648	0.218	0.13932	0.0762999501168	0.06990	0.03250415823271137	0.03198	0.0859514511941	0.09713	.	.	.	.	.	.	-0.612222	0.00123	T	-0.648884	0.09033	T	0.0460502777079839	0.04793	T	0.428457	0.11587	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	1.962774	0.24933	16.58	0.98279435026145434	0.39842	0.45258	0.27498	N	AEFBI	0.084526	0.17131	N	-0.312882700716832	0.28658	1.582536	-0.226818007944013	0.30580	1.722975	1.30623734306304E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	1.02	0.19102	1.340000	0.33501	0.291000	0.16873	0.603000	0.45986	0.986000	0.36153	0.978000	0.30204	0.979000	0.57723	0.0:0.3639:0.0:0.6361	7.649	0.27501	299	0.88026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.1667	657.04	19	chr14	60469597	.	T	C	657.04	.	AC=2;AF=0.167;AN=12;DP=114;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=23.47;SOR=0.693	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,419	5	1	0	0
chr14	63313076	63313076	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G245A:p.R82Q	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00379393	0.0062	0.0005	0.0004	0.0002	0.0042	0.0036	0.0108	0.0251	0.0036093	558	154602	rs202152731	0.0030	0.0030	0.0024	0.0036	0.0212	0.0029	0.0029	0.0204	0.0200	0.0002	0.0003	7.708e-05	0	0.0012	0.0073	0.0020	0.0033	0.0212	0.0022	0.0022	0.0017	0.0026	0.0193	0.0020	0.0019	0.0162	0.0150	9.637e-05	0	0.0005	0.0003	0	0.0021	0.0034	0.0029	0.0009	0.0193	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.41261	.	.	.	.	.	.	.	0.008682966	0.00197	T	.	.	.	.	.	.	.	0.246215685461	0.24236	0.6783049580709183	0.67769	.	.	0.426724642515	0.28760	T	0.403791	0.76044	T	-0.294854	0.09153	T	-0.180718	0.56457	T	.	.	.	0.934107	0.75346	D	0.2452297	0.47479	0.48068875	0.69926	0.2452297	0.47479	0.48068875	0.69926	-4.988	0.36709	T	.	.	0.086	0.10835	B	.;.	.;.	3.807114	0.54888	23.5	0.91516162854793026	0.20791	0.95391	0.64536	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999913513	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.983985	0.90998	5.85	5.85	0.93663	4.416000	0.59567	1.106000	0.24114	0.599000	0.40250	0.998000	0.41325	0.668000	0.26052	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.015152	0.1667	3469.04	34	chr14	63313076	.	C	T	3469.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.43;SOR=1.149	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1355	5	1	0	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	76.21	134	chr14	63599584	.	C	T	76.21	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.25;DP=660;ExcessHet=0.4139;FS=14.467;MLEAC=1;MLEAF=0.083;MQ=58.96;MQRankSum=-10.37;QD=0.27;ReadPosRankSum=-0.643;SOR=2.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:148,10:158:26:0|1:63599584_C_T:0,26,6148:63599584	4	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	157.07	136	chr14	63599585	.	T	G	157.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=787;ExcessHet=0.4139;FS=10.74;MLEAC=2;MLEAF=0.167;MQ=58.94;MQRankSum=-10.37;QD=0.55;ReadPosRankSum=-1.662;SOR=2.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:148,10:158:26:0|1:63599584_C_T:0,26,6148:63599584	4	0	2	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing 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	.	.	.	.	.	.	.	.	0.25	360.03	184	chr14	63599753	.	G	A	360.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.25;DP=771;ExcessHet=1.383;FS=10.169;MLEAC=3;MLEAF=0.25;MQ=58.75;MQRankSum=-9.732;QD=0.76;ReadPosRankSum=-1.642;SOR=1.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,13:170:73:0|1:63599753_G_A:73,0,6474:63599753	3	0	3	0
chr14	64052611	64052611	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon48:c.A8698G:p.N2900D,SYNE2:NM_182914:exon48:c.A8698G:p.N2900D	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2891047	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0143079659423	.	0.000199681	8.39e-06	0	0	0	0	0	0	6.095e-05	1.29e-05	2	154602	rs558451144	6.157e-06	6.156e-06	8.168e-06	4.126e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	2.319e-05	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.568	0.09048	T	0.379	0.16086	T	0.0	0.02946	B	0.001	0.04355	B	0.770208	0.06593	N	1.126930	1	0.08975	N	0.145	0.08828	N	1.39	0.54540	T	-0.3	0.13611	N	0.067	0.11626	-1.0294	0.20649	T	0.051	0.21533	T	10	0.03769511	0.02140	T	0.014308	0.34341	T	0.050	0.13987	0.283	0.23961	0.165133752707	0.16062	0.024311728517385917	0.02382	0.0526534794119	0.05800	0.323287844658	0.13918	T	0.00343	0.20786	T	-0.517339	0.00456	T	-0.777298	0.02536	T	0.0219526872167549	0.00903	T	0.60194	0.23564	T	0.033399083	0.03550	0.033625465	0.02289	0.033399083	0.03549	0.033625465	0.02289	-4.04	0.24400	T	.	.	0.071	0.03773	B	.;.;.;.	.;.;.;.	-0.608391	0.01549	0.101	0.65215926844118954	0.07710	0.01348	0.04627	N	AEFGBI	0.025390	0.01732	N	-1.64490386493782	0.01057	0.04584988	-1.71063217634172	0.01091	0.04900373	0.999999874290104	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.51	-11.0	0.00133	-1.739000	0.01939	-1.128000	0.06247	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.169000	0.20946	0.2407:0.0922:0.5763:0.0908	9.560	0.38531	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	893.83	50	chr14	64052611	.	A	G	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=333;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.281;SOR=0.473	GT:AD:DP:GQ:PL	0/1:30,30:60:99:904,0,783	5	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,32:99:99:.:.:258,0,1270:.	1	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	92.84	41	chr14	64158708	.	G	A	92.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.779;DP=374;ExcessHet=0;FS=51.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-0.219;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:50:.:.:0,50,1559:.	5	0	1	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.08333	692.83	35	chr14	64468430	.	C	G	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=229;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.402;SOR=1.054	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1202	5	0	1	0
chr14	67397688	67397688	G	A	exonic	PLEK2	.	nonsynonymous SNV	PLEK2:NM_016445:exon2:c.C181T:p.P61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738	0.186218891834	.	.	1.708e-05	0	0	0	0	3.085e-05	0	0	1.29e-05	2	154602	rs147132197	6.846e-06	6.84e-06	6.81e-06	6.882e-06	0.0002	3.46e-06	2.52e-06	1.32e-06	9.6e-07	2.987e-05	2.243e-05	0	0	0	0.0002	4.498e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.023	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.655	0.42436	L	-3.15	0.92938	D	-3.73	0.70920	D	0.818	0.81360	0.720	0.93423	D	0.850	0.94984	D	10	0.8681574	0.86069	D	0.186219	0.85861	D	0.738	0.90895	0.465	0.53566	0.988112944549	0.98798	0.6855509596717184	0.68494	0.869853243277	0.69354	0.733430147171	0.72008	T	0.510291	0.82673	D	0.19568	0.73488	D	0.225451	0.84448	D	0.781692981719971	0.45156	D	0.90111	0.65631	D	0.66324353	0.76072	0.6847568	0.81465	0.66324353	0.76074	0.6847568	0.81466	-7.818	0.59823	D	.	.	0.964	0.88533	P	.	.	4.586498	0.72512	25.8	0.99913646352542318	0.98238	0.99582	0.97678	D	AEFDGBI	0.952964	0.96887	D	0.795334495285528	0.85814	8.689581	0.827089750467477	0.91611	10.97489	0.999999999974473	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	9.588000	0.97390	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.453	0.90657	315	0.87208	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology 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	.	.	.	.	.	.	.	.	0.08333	1887.83	40	chr14	67397688	.	G	A	1887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.725;DP=339;ExcessHet=0;FS=3.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.949;SOR=0.435	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1898,0,1890	5	0	1	0
chr14	69122295	69122295	T	C	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon2:c.A280G:p.I94V,DCAF5:NM_001284207:exon2:c.A34G:p.I12V,DCAF5:NM_001284208:exon2:c.A280G:p.I94V,DCAF5:NM_003861:exon2:c.A280G:p.I94V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00399968796386	0.0002	0.000998403	0.0003	0	8.672e-05	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs149306770	0.0003	0.0003	0.0002	0.0003	0.0073	0.0003	0.0002	0.0055	0.0049	8.961e-05	0.0002	0	0	0	0.0073	0.0002	0.0004	0.0012	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.693e-05	0.0002	0.0001	4.81e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0004	0.467	0.10802	T	1.0	0.02685	T	0.003	0.11197	B	0.001	0.06944	B	0.000887	0.41231	D	0.216774	0.968656	0.38675	D	-1.32	0.00691	N	1.6	0.65931	T	0.23	0.04613	N	0.072	0.06059	-1.0829	0.06795	T	0.060	0.25237	T	10	0.0116221905	0.00253	T	0.004	0.09493	T	0.032	0.07718	.	.	0.0934897674506	0.08844	0.09926267678117934	0.09857	1.03285227811	0.75478	0.452510535717	0.32287	T	0.026902	0.19814	T	-0.474108	0.00802	T	-0.526604	0.19628	T	0.0207430000855697	0.00774	T	0.835216	0.50504	T	0.019868894	0.00528	0.024162482	0.00432	0.019868894	0.00527	0.024162482	0.00432	-2.526	0.09253	T	.	.	0.056	0.03887	B	.;.;.;.;.;.	.;.;.;.;.;.	1.410379	0.18257	13.64	0.92678203058504605	0.22163	0.68567	0.33851	D	AEFDGBI	0.091362	0.18507	N	-0.74526079491701	0.14762	0.7381456	-0.525363286589432	0.21465	1.161342	0.938790932921965	0.27359	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	1.96	0.25203	1.406000	0.34254	0.823000	0.21872	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.3307:0.0:0.6693	7.699	0.27777	890	0.26919	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	1	0	0	0	0.006042	0.010101	0.008152	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	1767.83	135	chr14	69122295	.	T	C	1767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.494;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.253;SOR=0.706	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1288	5	0	1	0
chr14	71587916	71587916	C	T	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon2:c.C44T:p.T15I,SIPA1L1:NM_001284247:exon4:c.C44T:p.T15I,SIPA1L1:NM_001354285:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354287:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354288:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354286:exon6:c.C44T:p.T15I,SIPA1L1:NM_001284245:exon7:c.C44T:p.T15I,SIPA1L1:NM_015556:exon7:c.C44T:p.T15I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0125808766887	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.054e-06	2.052e-06	4.086e-06	0	2.701e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.20912	T	0.11	0.37310	T	0.666	0.41077	P	0.23	0.38212	B	0.042546	0.23831	N	0.463823	0.999949	0.19238	N	1.39	0.34934	L	-1.01	0.76300	T	-3.28	0.65627	D	0.223	0.34012	-0.8628	0.51061	T	0.236	0.60319	T	10	0.09123403	0.15965	T	0.012581	0.31278	T	0.088	0.25558	0.257	0.19845	0.485485078511	0.48178	0.07605499963878577	0.07541	0.380412379635	0.39413	0.446199983358	0.31425	T	0.078574	0.35924	T	-0.0496129	0.44507	T	-0.309042	0.43762	T	0.425381481647491	0.29889	T	0.872813	0.58002	D	0.05980843	0.12200	0.053633418	0.09072	0.05980843	0.12199	0.053633418	0.09072	-4.148	0.25995	T	.	.	0.133	0.28920	B	.;.;.;.	.;.;.;.	2.132625	0.27151	17.36	0.93881906736153264	0.23900	0.62811	0.31895	D	AEFBHCI	0.175524	0.30270	N	-0.518148280748305	0.21493	1.141042	-0.432371355780511	0.24053	1.315044	0.999992544863892	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.42	3.53	0.39533	2.346000	0.43683	4.062000	0.41595	0.599000	0.40250	0.506000	0.27002	0.999000	0.35428	0.993000	0.69303	0.0:0.6077:0.3923:0.0	15.573	0.76094	406	0.82375	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1296.06	33	chr14	71587916	.	C	T	1296.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.724;DP=271;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.598;SOR=0.736	GT:AD:DP:GQ:PL	0/1:34,25:59:99:603,0,855	4	0	2	0
chr14	73262641	73262641	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon18:c.C2489T:p.A830V,PAPLN:NM_173462:exon18:c.C2456T:p.A819V,PAPLN:NM_001365906:exon19:c.C2537T:p.A846V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	0.0071	0.000998403	0.0114	0.0044	0.0119	0	0.0184	0.0169	0.0104	0	0.0035058	542	154602	rs11620852	0.0074	0.0072	0.0075	0.0072	0.0085	0.0072	0.0072	0.0084	0.0083	0.0013	0.0052	0.0040	8.157e-05	0.0057	0.0008	0.0085	0.0074	4.183e-05	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0052	0.0084	0.0081	0.0021	0	0.0067	0.0023	0	0.0048	0	0.0090	0.0038	0	0.37	0.11659	T	0.428	0.13792	T	0.0	0.02946	B	0.0	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-0.01	0.62762	T	-0.69	0.19720	N	0.05	0.02861	-1.0439	0.16148	T	0.080	0.31645	T	9	0.0038379133	0.00072	T	.	.	.	0.067	0.19503	.	.	0.0297737177859	0.01360	0.1336803477946363	0.13292	0.185637275196	0.20877	0.270836800337	0.06250	T	0.005715	0.05159	T	-0.493135	0.00625	T	-0.471736	0.25330	T	0.00165313840797321	0.00017	T	0.319968	0.06445	T	0.013320798	0.00056	0.024709178	0.00495	0.013320798	0.00055	0.024709178	0.00495	-4.391	0.29489	T	.	.	0.082	0.10352	B	.;.;.;.	.;.;.;.	-0.367988	0.02335	0.251	0.78116216352754131	0.12162	0.03137	0.08091	N	AEFDBI	0.068154	0.13430	N	-1.45939330310738	0.02144	0.09434819	-1.44714005152769	0.02796	0.1292668	0.964288975979899	0.28749	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.73	0.574	0.16553	-0.673000	0.05339	-1.112000	0.06295	-2.752000	0.00197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6861:0.1369:0.177	7.636	0.27431	748	0.52143	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002559	0.015464	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	671.83	41	chr14	73262641	.	C	T	671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=1.2;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1375	5	0	1	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC 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	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.1667	2586.06	99	chr14	73491733	.	A	G	2586.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.713;DP=510;ExcessHet=0.4139;FS=1.199;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.181;SOR=0.834	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	4	0	2	0
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2192.09	39	chr14	73612782	.	A	G	2192.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=117;ExcessHet=1.383;FS=4.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.197;SOR=0.367	GT:AD:DP:GQ:PL	0/0:8,0:14:99:162,187,457	5	0	1	0
chr14	74286696	74286696	G	A	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353607:exon15:c.C968T:p.P323L,ABCD4:NM_001353594:exon16:c.C1445T:p.P482L,ABCD4:NM_001353601:exon16:c.C1280T:p.P427L,ABCD4:NM_001353606:exon16:c.C968T:p.P323L,ABCD4:NM_001353608:exon16:c.C968T:p.P323L,ABCD4:NM_001353592:exon17:c.C1631T:p.P544L,ABCD4:NM_001353599:exon17:c.C1280T:p.P427L,ABCD4:NM_001353600:exon17:c.C1280T:p.P427L,ABCD4:NM_001353609:exon17:c.C968T:p.P323L,ABCD4:NM_020325:exon18:c.C1757T:p.P586L	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	0.0009	0.038	.	505516	ABCD4-related_disorder|Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|not_specified|not_provided	.|MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	.	0.00878594	0.0059	0.0003	0.0002	0.0001	0	0	0.0055	0.0423	0.0050776	785	154602	rs370270229	0.0026	0.0026	0.0016	0.0037	0.0415	0.0025	0.0025	0.0403	0.0399	8.961e-05	0	0	0	0	0.0031	2.338e-05	0.0033	0.0415	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0390	0.0372	4.81e-05	0	6.54e-05	0	0.0004	0	0	4.41e-05	0	0.0439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1382.83	41	chr14	74286696	.	G	A	1382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=309;ExcessHet=0;FS=0.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.629;SOR=0.816	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr14	74511307	74511307	G	C	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon19:c.C2966G:p.P989R	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1483	37	2	0	41	0.0136349	.	.	.	702986	not_provided|Weill-Marchesani_syndrome|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.0011	0.00559105	0.0055	0.0002	0.0018	0.0002	0.0002	0.0021	0.0122	0.0300	0.0049094	759	154602	rs76172717	0.0034	0.0034	0.0026	0.0043	0.0294	0.0034	0.0033	0.0284	0.0280	0.0004	0.0028	0.0041	0.0001	7.497e-05	0.0111	0.0017	0.0039	0.0294	0.0025	0.0025	0.0018	0.0031	0.0232	0.0022	0.0022	0.0197	0.0184	0.0004	0	0.0059	0.0052	0.0004	9.411e-05	0.0170	0.0018	0.0028	0.0232	0.025	0.47320	D	0.03	0.54159	D	0.953	0.54283	P	0.895	0.63489	P	0.017802	0.27632	N	0.173155	0.744398	0.33858	D	1.955	0.52871	M	-2.9	0.91643	D	-6.92	0.93366	D	0.465	0.55799	0.416	0.89333	D	0.803	0.93326	D	10	0.010016173	0.00224	T	.	.	.	0.503	0.78538	.	.	0.859434438275	0.85807	0.5135926169408016	0.51281	0.565440799471	0.52883	0.484133929014	0.36627	T	0.783003	0.94289	D	-0.230146	0.16629	T	-0.0810524	0.64827	T	0.0762015710983203	0.09494	T	0.887511	0.62412	D	0.2485262	0.47839	0.26377156	0.52187	0.2298873	0.45733	0.26377156	0.52186	-9.346	0.69896	D	.	.	0.093	0.13923	B	.;.	.;.	4.090586	0.60914	24.3	0.99823361191097992	0.90590	0.68807	0.33942	D	AEFGBI	0.224743	0.34893	N	0.145442281603709	0.48597	3.069959	0.0987253262848525	0.44484	2.729357	0.999999962438133	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.36	4.47	0.53770	2.161000	0.41985	11.820000	0.97208	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.979000	0.57723	0.1594:0.0:0.8406:0.0	9.942	0.40754	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	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	0.015106	0.000000	0.013587	0.020468	0.050000	0.000000	0.006098	0.026515	0.08333	928.83	35	chr14	74511307	.	G	C	928.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.903;DP=262;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.085;SOR=0.968	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1192	5	0	1	0
chr14	74863732	74863732	C	T	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001080408:exon3:c.G103A:p.D35N,PROX2:NM_001243007:exon3:c.G103A:p.D35N,PROX2:NM_001384314:exon4:c.G103A:p.D35N	.	8	1465	48	1	0	50	0.0167785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0015	0.0081869	0.0042	0.0002	0.0025	0	0.0003	0.0030	0.0064	0.0260	0.0039003	603	154602	rs180960227	0.0030	0.0031	0.0024	0.0036	0.0277	0.0029	0.0029	0.0240	0.0232	0.0005	0.0022	0.0188	5.103e-05	0.0002	0.0277	0.0014	0.0048	0.0246	0.0028	0.0028	0.0025	0.0031	0.0307	0.0026	0.0025	0.0267	0.0251	0.0003	0	0.0025	0.0205	0	9.413e-05	0.0102	0.0021	0.0028	0.0307	0.068	0.37750	T	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.338976	0.04176	N	1.430780	1	0.08975	N	0.69	0.16971	N	0.96	0.42888	T	0.15	0.05310	N	0.074	0.05414	-1.0060	0.28156	T	0.041	0.17742	T	10	0.0030384362	0.00050	T	.	.	.	0.068	0.19811	.	.	0.0806252709748	0.07271	0.11674413745717793	0.11602	0.0477391704432	0.05209	0.295686364174	0.09760	T	0.004913	0.04332	T	-0.733045	0.00023	T	-0.806148	0.01753	T	0.0037572367142395	0.00040	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.100	0.17103	B	.;.	.;.	1.610506	0.20578	14.81	0.99037930992716072	0.50962	0.11356	0.16580	N	AEFDI	0.065554	0.12793	N	-0.668780823610627	0.16916	0.8660086	-0.729438421252094	0.16230	0.857553	0.998840203693113	0.37800	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	1.79	0.23992	-0.021000	0.12445	0.693000	0.20782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6397:0.0:0.3603	6.912	0.23520	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	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	0.018127	0.000000	0.010870	0.038012	0.000000	0.008621	0.009146	0.026515	0.08333	1559.83	34	chr14	74863732	.	C	T	1559.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.708;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.29;SOR=0.729	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1570,0,1763	5	0	1	0
chr14	74909984	74909984	C	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370252:exon7:c.G829A:p.A277T,RPS6KL1:NM_001370253:exon8:c.G784A:p.A262T,RPS6KL1:NM_031464:exon8:c.G829A:p.A277T	.	415	1072	34	1	0	36	0.0165138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00638978	0.0047	0.0002	0.0024	0.0001	0.0002	0.0034	0.0067	0.0188	0.0042496	657	154602	rs148670608	0.0029	0.0029	0.0024	0.0034	0.0274	0.0028	0.0028	0.0239	0.0226	0.0004	0.0024	0.0187	0.0004	0.0002	0.0274	0.0014	0.0043	0.0182	0.0026	0.0026	0.0024	0.0027	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0024	0.0205	0.0006	9.434e-05	0.0102	0.0021	0.0028	0.0224	0.126	0.27194	T	0.579	0.08535	T	0.002	0.09854	B	0.001	0.04355	B	0.473879	0.04941	N	1.302770	1	0.08975	N	0.55	0.14455	N	0.32	0.58468	T	-0.95	0.25332	N	0.092	0.08227	-1.0221	0.23031	T	0.103	0.37869	T	10	0.0029692352	0.00048	T	.	.	.	0.015	0.02232	.	.	0.506006782367	0.50240	0.16706468169507002	0.16626	0.159674078061	0.18017	0.290036141872	0.08927	T	0.002076	0.01480	T	-0.641258	0.00082	T	-0.678963	0.07047	T	0.00194524139961261	0.00020	T	0.346465	0.07620	T	0.027767	0.02015	0.039660048	0.04111	0.027767	0.02015	0.039660048	0.04111	-3.636	0.18379	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	-0.279271	0.02708	0.355	0.62731164246453697	0.07038	0.07838	0.13831	N	AEFDBI	0.087683	0.17779	N	-1.18298548075412	0.05257	0.239226	-1.16460723848425	0.06510	0.313568	0.997888244719528	0.36150	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	5.4	1.18	0.20058	-1.426000	0.02550	0.009000	0.13411	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0925:0.3138:0.4448:0.1489	3.758	0.08116	623	0.65786	Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.035088	0.000000	0.017241	0.009146	0.022727	0.08333	731.83	35	chr14	74909984	.	C	T	731.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.133;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.68;SOR=0.76	GT:AD:DP:GQ:PL	0/1:36,29:65:99:742,0,942	5	0	1	0
chr14	75717892	75717892	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon10:c.A772G:p.K258E	Cone-rod dystrophy 19, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.017383949337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.138	0.33780	T	0.178	0.30041	B	0.078	0.42592	B	0.000002	0.62929	D	0.134887	0.993811	0.81001	D	0.94	0.23649	L	3.41	0.05574	T	-1.61	0.38734	N	0.522	0.61341	-0.9998	0.29973	T	0.024	0.10329	T	10	0.28226846	0.45805	T	0.017384	0.39055	T	0.217	0.51112	0.448	0.50793	0.0297737177859	0.01360	0.5593061579962352	0.55857	0.29414098845	0.31833	0.819464206696	0.84946	D	0.025325	0.18960	T	-0.0866819	0.38623	T	-0.362289	0.37787	T	0.757024557418396	0.43682	D	0.918008	0.70480	D	0.3829123	0.59527	0.39675626	0.64309	0.3829123	0.59527	0.39675626	0.64309	-13.355	0.90773	D	0.6660518613242252	0.74030	0.315	0.76407	B	.;.	.;.	4.215989	0.63731	24.6	0.99770421817044574	0.85834	0.93769	0.59138	D	AEFDGBHCI	0.785167	0.71563	D	0.190310299479286	0.50735	3.260646	0.374278137493252	0.59982	4.181125	0.999999998304478	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	6.904000	0.75530	11.290000	0.92000	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.238	0.82212	767	0.49651	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1153.83	38	chr14	75717892	.	A	G	1153.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.384;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.365;SOR=0.678	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1164,0,1749	5	0	1	0
chr14	77435849	77435849	T	C	exonic	VIPAS39	.	nonsynonymous SNV	VIPAS39:NM_001193316:exon12:c.A760G:p.I254V,VIPAS39:NM_001193314:exon13:c.A907G:p.I303V,VIPAS39:NM_001193315:exon13:c.A907G:p.I303V,VIPAS39:NM_001193317:exon13:c.A907G:p.I303V,VIPAS39:NM_022067:exon14:c.A907G:p.I303V	Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	1919413	Inborn_genetic_diseases|Arthrogryposis,_renal_dysfunction,_and_cholestasis_2|VIPAS39-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013255,MedGen:C3150672,OMIM:613404,Orphanet:2697|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0108999416905	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760795319	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0040	1.61e-05	1.416e-05	0.0027	0.0023	2.988e-05	0	0	0	0	0.0040	6.295e-06	1.656e-05	1.159e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.26740	T	0.041	0.50809	D	0.118	0.26577	B	0.136	0.33270	B	0.000007	0.62929	D	0.142631	0.999995	0.58761	D	1.52	0.38360	L	0.91	0.44856	T	-0.46	0.14978	N	0.422	0.46180	-1.0099	0.26949	T	0.108	0.39147	T	10	0.31477988	0.48916	T	0.011	0.27957	T	0.087	0.25287	0.617	0.75116	0.42886291518	0.42503	0.3750092851199869	0.37414	0.244761738464	0.26983	0.508945941925	0.40075	T	0.045604	0.27172	T	-0.174258	0.24593	T	-0.488086	0.23592	T	0.752516686916351	0.43425	D	0.868613	0.57103	D	0.041953344	0.06274	0.050929755	0.08092	0.041953344	0.06274	0.050929755	0.08092	-3.751	0.20074	T	0.2808078224063271	0.37608	0.096	0.15206	B	.;.;.;.;.;.	.;.;.;.;.;.	3.101100	0.41791	21.4	0.99489358191664512	0.67347	0.94229	0.60507	D	AEGBI	0.447418	0.50307	N	0.0536439635034095	0.44309	2.707413	0.203852987973281	0.50061	3.202149	0.989649435504163	0.31891	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.811000	0.62296	7.801000	0.69150	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0804:0.0:0.9196	9.518	0.38280	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	877.83	88	chr14	77435849	.	T	C	877.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.399;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.702;SOR=0.735	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	5	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	321.03	129	chr14	78297852	.	G	A	321.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.202;DP=747;ExcessHet=1.383;FS=240.602;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.123;SOR=10.76	GT:AD:DP:GQ:PL	0/0:112,32:144:67:0,67,1885	3	0	3	0
chr14	81396151	81396151	A	G	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon4:c.T116C:p.L39P,STON2:NM_001366849:exon4:c.T116C:p.L39P,STON2:NM_001366850:exon4:c.T116C:p.L39P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.019124636134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.91255	T	0.282	0.21545	T	0.001	0.07471	B	0.002	0.06944	B	0.885378	0.07262	N	1.058040	0.99999	0.08975	N	1.355	0.33814	L	-2.11	0.86216	D	-0.21	0.69236	N	0.062	0.04307	-0.7598	0.57416	T	0.354	0.71728	T	10	0.05246547	0.05286	T	0.019125	0.41408	T	0.205	0.49236	0.146	0.04941	0.395439683604	0.39153	0.1740998074451335	0.17328	0.168298605729	0.18978	0.309052467346	0.11764	T	0.004865	0.04280	T	-0.00123817	0.51485	T	-0.239555	0.50842	T	0.048658911138773	0.05263	T	0.509649	0.16214	T	0.07359461	0.16456	0.082202084	0.18743	0.07359461	0.16456	0.082202084	0.18743	-3.279	0.13467	T	.	.	0.059	0.00834	B	.;.;.;.;.	.;.;.;.;.	1.359111	0.17679	13.30	0.945318469345936	0.25031	0.02409	0.06817	N	AEFGBI	0.087342	0.17709	N	-0.870672768988695	0.11544	0.5576998	-0.803707879765214	0.14407	0.7525385	0.999904016978778	0.45458	0.775728	0.99543	0	0.573888	0.26702	0	0.663124	0.60104	0	0.564101	0.26826	0	.	.	5.8	0.466	0.15928	0.100000	0.15067	1.936000	0.29800	0.743000	0.86499	0.000000	0.06391	0.001000	0.17328	0.980000	0.58198	0.5409:0.2914:0.1677:0.0	5.016	0.13678	653	0.62661	.;.;.;Stonin-2, N-terminal;Stonin-2, 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	.	.	.	.	.	.	.	.	0.08333	1239.83	33	chr14	81396151	.	A	G	1239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=273;ExcessHet=0;FS=2.601;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.84;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	5	0	1	0
chr14	88478968	88478968	G	C	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon13:c.C2463G:p.D821E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0060	0.00599042	0.0018	0.0189	0.0011	0	0	0	0	0	0.0015071	233	154602	rs143571855	0.0005	0.0005	0.0005	0.0004	0.0176	0.0004	0.0004	0.0163	0.0158	0.0176	0.0008	0	0	0	0.0002	9.258e-06	0.0009	5.214e-05	0.0051	0.0051	0.0055	0.0047	0.0180	0.0048	0.0047	0.0169	0.0165	0.0180	0	0.0012	0	0	0	0	4.41e-05	0.0033	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.011	0.15521	B	0.000004	0.62929	D	0.102401	0.999819	0.20249	N	0.655	0.16177	N	-0.43	0.69657	T	-0.44	0.14588	N	0.32	0.36043	-0.9560	0.39916	T	0.046	0.19559	T	10	0.0048018694	0.00102	T	.	.	.	0.146	0.38789	0.19	0.10039	0.324161360171	0.32030	.	.	0.29305992343	0.31727	0.704627871513	0.67813	T	0.006162	0.05598	T	-0.571521	0.00217	T	-0.578132	0.14711	T	0.00242922959317224	0.00025	T	0.687731	0.29668	T	0.08400358	0.19423	0.058239203	0.10727	0.08400358	0.19423	0.058239203	0.10727	-6.874	0.53107	T	.	.	0.191	0.48230	B	.;.	.;.	0.242898	0.06227	2.682	0.40644417978459813	0.02882	0.07574	0.13586	N	AEFDBI	0.077380	0.15590	N	-1.33598369548941	0.03272	0.145902	-1.33414874064517	0.03996	0.1875843	0.999885115690773	0.44867	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.42	-6.17	0.01912	-1.577000	0.02231	-0.095000	0.12011	0.676000	0.76740	0.001000	0.13787	0.115000	0.22839	0.923000	0.45890	0.6682:0.0:0.1704:0.1615	9.286	0.36918	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	917.83	34	chr14	88478968	.	G	C	917.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.868;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.241;SOR=0.676	GT:AD:DP:GQ:PL	0/1:31,40:71:99:928,0,797	5	0	1	0
chr14	90900157	90900157	C	T	exonic	RPS6KA5	.	nonsynonymous SNV	RPS6KA5:NM_001322238:exon9:c.G673A:p.V225M,RPS6KA5:NM_001322228:exon10:c.G1222A:p.V408M,RPS6KA5:NM_001322231:exon10:c.G613A:p.V205M,RPS6KA5:NM_001322232:exon10:c.G1111A:p.V371M,RPS6KA5:NM_001322233:exon10:c.G1168A:p.V390M,RPS6KA5:NM_001322236:exon10:c.G1246A:p.V416M,RPS6KA5:NM_001322229:exon11:c.G1330A:p.V444M,RPS6KA5:NM_001322234:exon11:c.G754A:p.V252M,RPS6KA5:NM_001322237:exon11:c.G1093A:p.V365M,RPS6KA5:NM_004755:exon11:c.G1330A:p.V444M,RPS6KA5:NM_182398:exon11:c.G1330A:p.V444M,RPS6KA5:NM_001322227:exon12:c.G487A:p.V163M,RPS6KA5:NM_001322230:exon12:c.G529A:p.V177M,RPS6KA5:NM_001322235:exon12:c.G1093A:p.V365M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0123321440245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392660268	4.816e-06	5.472e-06	5.475e-06	4.149e-06	0.0003	2e-06	1.29e-06	6.143e-05	2.54e-05	0	0	0	2.552e-05	0	0.0003	2.709e-06	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.34621	T	0.235	0.24767	T	0.008	0.23051	B	0.031	0.21939	B	0.051104	0.23011	N	0.507940	1	0.08975	N	1.045	0.26769	L	0.69	0.51714	T	-0.48	0.15379	N	0.149	0.19190	-1.0430	0.16413	T	0.080	0.31586	T	10	0.08655143	0.14722	T	0.012332	0.30806	T	0.036	0.09122	0.563	0.68364	0.341405816201	0.33746	0.4102733101405243	0.40943	.	.	0.314295887947	0.12557	T	0.096636	0.39864	T	-0.25204	0.13848	T	-0.599815	0.12826	T	0.0986009371006709	0.12203	T	0.89621	0.63872	D	0.17648551	0.38564	0.11425107	0.27578	0.17648551	0.38563	0.11425107	0.27578	-8.454	0.64733	D	.	.	0.076	0.06114	B	.;.;.	.;.;.	0.067615	0.04768	1.387	0.82925012548982646	0.14448	0.02240	0.06499	N	AEFBI	0.041577	0.06341	N	-1.20063856096436	0.04992	0.2265228	-1.2857661315231	0.04622	0.2184552	0.116516445800821	0.16780	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.96	-5.97	0.02041	0.173000	0.16538	-1.784000	0.04733	-0.181000	0.10308	0.006000	0.17386	0.000000	0.08366	0.025000	0.12405	0.1492:0.5479:0.0:0.303	9.253	0.36729	923	0.18507	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	246.83	26	chr14	90900157	.	C	T	246.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.068;DP=186;ExcessHet=0;FS=2.995;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-0.873;SOR=1.132	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	5	0	1	0
chr14	91313666	91313666	C	T	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon15:c.G2150A:p.R717H	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2761796	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0174133598722	0.0002	.	6.632e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs373146563	9.247e-05	9.235e-05	8.861e-05	9.637e-05	0.0002	7.968e-05	7.441e-05	7.598e-05	7.087e-05	2.987e-05	0	0.0011	0	0	0.0002	9.084e-05	3.314e-05	1.159e-05	3.943e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0.0009	0	0	0	0	0	0	0.046	0.40573	D	0.071	0.43531	T	0.373	0.34173	B	0.066	0.27432	B	0.000562	0.43250	U	0.000000	0.999723	0.48557	D	2.18	0.61292	M	2.19	0.18724	T	-3.03	0.62747	D	0.249	0.28146	-1.0719	0.09001	T	0.057	0.24130	T	10	0.115352094	0.21730	T	0.017413	0.39097	T	0.092	0.26621	.	.	0.365120060079	0.36123	0.24883405471061232	0.24797	0.205038432444	0.22922	0.390255779028	0.23705	T	0.153735	0.49471	T	-0.334082	0.05808	T	-0.531759	0.19111	T	0.0747057041378851	0.09295	T	0.913209	0.69058	D	0.18005995	0.39108	0.12070737	0.29128	0.18005995	0.39108	0.12070737	0.29127	-8.864	0.66817	D	.	.	0.125	0.26419	B	.	.	3.495812	0.48888	22.7	0.99667059468924057	0.78330	0.81161	0.40624	D	AEFDBCI	0.407943	0.47982	N	-0.0314193305447012	0.40436	2.401324	0.00412719779837898	0.39907	2.373279	0.977307450668598	0.29808	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	3.27	0.36580	1.987000	0.40309	1.745000	0.28430	0.511000	0.23309	0.998000	0.41325	1.000000	0.68203	0.816000	0.38450	0.0:0.7849:0.0:0.2151	10.491	0.43938	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1406.83	55	chr14	91313666	.	C	T	1406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.215;DP=312;ExcessHet=0;FS=1.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.243;SOR=0.923	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1436	5	0	1	0
chr14	91621823	91621823	G	C	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon19:c.C2045G:p.T682S	.	433	1085	2	2	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0579769036512	.	.	8.242e-06	0	8.649e-05	0	0	0	0	0	6.5e-06	1	154602	rs772377586	2.257e-05	2.257e-05	2.45e-05	2.063e-05	0.0049	1.61e-05	1.416e-05	0.0034	0.0030	8.961e-05	2.236e-05	0	0	0	0.0049	8.993e-07	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.172	0.22660	T	0.0	0.92824	D	0.998	0.73220	D	0.983	0.75793	D	0.000038	0.55875	D	0.000000	1	0.08975	N	2.75	0.80375	M	0.72	0.50976	T	-2.56	0.55339	D	0.266	0.30118	-0.8402	0.52633	T	0.229	0.59396	T	10	0.33028704	0.50268	T	0.057977	0.67155	D	0.162	0.41843	0.321	0.30064	0.707077320254	0.70452	0.6007478139928748	0.60005	0.713409485707	0.61815	0.434314161539	0.29799	T	0.169262	0.51657	T	-0.219125	0.18111	T	-0.469669	0.25553	T	0.960161805152893	0.65730	D	.	.	.	0.14254807	0.32801	0.14044055	0.33477	0.14254807	0.32800	0.14044055	0.33476	-3.113	0.11446	T	.	.	0.548	0.66717	A	.	.	4.176564	0.62841	24.5	0.98707762597151072	0.45011	0.77554	0.38145	D	AEFDI	0.268190	0.38474	N	0.356565788892037	0.59086	4.085362	0.264922114440387	0.53501	3.518866	0.0383313780989239	0.14342	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	5.43	0.79006	4.030000	0.56971	11.619000	0.93604	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.176000	0.21171	0.0901:0.0:0.9099:0.0	10.288	0.42758	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.002717	0.017544	0.000000	0.008621	0.000000	0.000000	0.08333	1771.83	107	chr14	91621823	.	G	C	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=298;ExcessHet=0;FS=5.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.088;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1575:.	5	0	1	0
chr14	92071010	92071010	-	CTGCTGCTGCTGCTG	exonic	ATXN3	.	nonframeshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAG:p.A22_G23insAAAAA,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAG:p.A77_G78insAAAAA,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAG:p.A37_G38insAAAAA,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAG:p.A92_G93insAAAAA,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAG:p.A143_G144insAAAAA,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAG:p.Q184_G185insQQQQQ,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAG:p.Q126_G127insQQQQQ,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAG:p.Q254_G255insQQQQQ,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAG:p.Q235_G236insQQQQQ,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAG:p.Q290_G291insQQQQQ,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAG:p.Q250_G251insQQQQQ,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAG:p.Q305_G306insQQQQQ	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2810653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002911	45	154602	rs763541221	0.0010	0.0011	0.0010	0.0010	0.0104	0.0010	0.0010	0.0094	0.0090	0.0104	0.0015	0.0018	0	0.0007	0.0029	0.0007	0.0018	0.0011	0.0033	0.0032	0.0032	0.0034	0.0093	0.0031	0.0030	0.0085	0.0082	0.0093	0	0.0035	0.0023	0	0.0003	0.0071	0.0009	0.0015	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8092.51	47	chr14	92071010	.	C	CCTGCTGCTGCTGCTG	8092.51	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.34;DP=353;ExcessHet=0;FS=5.991;MLEAC=2;MLEAF=0.167;MQ=59.47;MQRankSum=-1.307;QD=31.58;ReadPosRankSum=-0.975;SOR=1.535	GT:AD:DP:GQ:PL	0/0:0,0:48:99:1829,1754,1838	5	1	0	0
chr14	92156612	92156612	A	G	exonic	CPSF2	.	nonsynonymous SNV	CPSF2:NM_001322271:exon11:c.A1117G:p.T373A,CPSF2:NM_001322272:exon12:c.A1576G:p.T526A,CPSF2:NM_017437:exon12:c.A1576G:p.T526A	.	475	1041	5	1	0	7	0.00335089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0164160692548	0.0011	0.00159744	0.0015	0.0006	0.0016	0	0	0.0010	0	0.0055	0.0014165	219	154602	rs140484405	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0052	0.0050	0.0003	0.0015	0.0005	0	7.571e-05	0.0028	0.0013	0.0011	0.0056	0.0009	0.0009	0.0009	0.0009	0.0064	0.0008	0.0007	0.0047	0.0040	0.0002	0	0.0009	0.0003	0	9.411e-05	0.0034	0.0012	0.0014	0.0064	0.732	0.03787	T	0.743	0.04930	T	0.042	0.21471	B	0.071	0.27960	B	0.000091	0.51296	D	0.180091	0.999718	0.48481	D	1.445	0.36358	L	0.86	0.46777	T	-1.34	0.33401	N	0.225	0.25253	-0.9865	0.33469	T	0.125	0.42903	T	10	0.009489924	0.00214	T	0.016416	0.37668	T	0.060	0.17295	.	.	0.68354922304	0.68085	0.3663218693419123	0.36546	0.631682211499	0.57116	0.552666902542	0.46234	T	0.092272	0.38970	T	-0.446774	0.01180	T	-0.41317	0.31860	T	0.0341333464093526	0.02660	T	0.775222	0.40690	T	0.15314405	0.34729	0.09434699	0.22328	0.15314405	0.34728	0.09434699	0.22327	-5.279	0.39734	T	.	.	0.072	0.04238	B	.	.	2.864905	0.37866	20.6	0.49864624935996132	0.04284	0.94122	0.60179	D	AEFBI	0.329354	0.42973	N	-0.157588697956911	0.34914	1.99882	-0.00061409056380992	0.39687	2.35704	0.738654395261433	0.23175	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.886000	0.62841	9.437000	0.80819	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	1.0:0.0:0.0:0.0	15.959	0.79704	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	884.83	34	chr14	92156612	.	A	G	884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=250;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.656;SOR=0.825	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	5	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	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	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.08333	988.83	35	chr14	92652445	.	A	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.077;DP=305;ExcessHet=0;FS=1.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.419;SOR=0.547	GT:AD:DP:GQ:PL	0/1:61,44:105:99:999,0,1604	5	0	1	0
chr14	92941625	92941625	C	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.G824A:p.G275D,ITPK1:NM_001142593:exon11:c.G1181A:p.G394D,ITPK1:NM_014216:exon11:c.G1181A:p.G394D	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0515681432945	.	.	0.0051	0	0	0	0	0	0.0081	0.0076	0.0004463	69	154602	rs564328210	0.0005	0.0005	0.0002	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	0	2.937e-05	0	2.813e-05	0	0.0015	1.858e-05	0.0003	0.0074	0.0001	0.0001	7.706e-05	0.0002	0.0033	7.569e-05	6.275e-05	0.0021	0.0017	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0.0033	0.01	0.56456	D	0.025	0.57587	D	0.013	0.16609	B	0.011	0.15521	B	0.006224	0.32178	N	0.351400	1	0.21520	N	0.345	0.11182	N	.	.	.	-0.81	0.26422	N	0.122	0.14196	-0.9775	0.35571	T	0.101	0.37316	T	9	0.0068935454	0.00157	T	0.051568	0.64713	D	0.212	0.50341	0.354	0.35408	0.043077524339	0.03247	0.4015342942963157	0.40069	0.5848317274	0.54147	0.508045613766	0.39949	T	0.106566	0.41802	T	-0.473915	0.00804	T	-0.450076	0.27690	T	0.0394188475739584	0.03586	T	.	.	.	0.09627992	0.22674	0.14098229	0.33587	0.09627992	0.22673	0.14098229	0.33586	-4.362	0.29037	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	1.270783	0.16697	12.70	0.96703659210830251	0.30784	0.85335	0.44458	D	AEFDBI	0.692251	0.65198	D	-0.584049680350897	0.19429	1.016781	-0.564688505870872	0.20416	1.099875	0.999952982813752	0.48110	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.79	1.91	0.24841	4.989000	0.63600	2.186000	0.31169	0.599000	0.40250	0.943000	0.32764	0.020000	0.20764	0.001000	0.02609	0.0:0.5978:0.4022:0.0	15.693	0.77227	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001130	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004065	0.08333	189.83	35	chr14	92941625	.	C	T	189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.935;SOR=0.791	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	5	0	1	0
chr14	93928472	93928472	G	T	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.G187T:p.A63S,FAM181A:NM_001207072:exon2:c.G187T:p.A63S,FAM181A:NM_001207073:exon2:c.G187T:p.A63S,FAM181A:NM_001207074:exon2:c.G187T:p.A63S,FAM181A:NM_138344:exon3:c.G373T:p.A125S	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00606174131219	0.0018	0.000599042	0.0015	0.0002	0.0007	0	0.0014	0.0023	0.0034	0.0007	0.0015136	234	154602	rs139773135	0.0016	0.0016	0.0016	0.0015	0.0042	0.0015	0.0015	0.0029	0.0024	0.0003	0.0008	0.0140	0	0.0017	0.0042	0.0014	0.0027	0.0007	0.0015	0.0015	0.0013	0.0017	0.0019	0.0013	0.0013	0.0016	0.0015	0.0002	0	0.0007	0.0138	0	0.0025	0.0068	0.0019	0.0014	0.0004	0.744	0.04643	T	0.809	0.04220	T	0.012	0.16265	B	0.006	0.12133	B	0.203244	0.16547	N	0.496191	1	0.08975	N	1.7	0.43825	L	1.6	0.28604	T	-0.04	0.08971	N	0.063	0.05037	-0.9512	0.40765	T	0.022	0.09375	T	10	0.0038964152	0.00074	T	0.006062	0.15846	T	0.045	0.12272	.	.	0.107399877778	0.10242	0.12977652117394323	0.12902	0.0628094498283	0.06995	0.361955672503	0.19671	T	0.005197	0.04646	T	-0.562994	0.00244	T	-0.587336	0.13897	T	0.00891513138234211	0.00111	T	.	.	.	0.07257533	0.16154	0.078052275	0.17447	0.07257533	0.16153	0.078052275	0.17447	-4.204	0.27341	T	.	.	0.095	0.14797	B	.;.;.;.;.	.;.;.;.;.	1.198498	0.15906	12.18	0.60569020453218336	0.06495	0.05956	0.11914	N	AEFBI	0.072216	0.14405	N	-1.04326936254504	0.07720	0.3596091	-0.952441548041904	0.10866	0.5500831	0.204699209452549	0.18166	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	2.68	0.30839	0.412000	0.20852	6.380000	0.55540	0.590000	0.31872	0.000000	0.06391	0.999000	0.35428	0.022000	0.11911	0.094:0.1938:0.5673:0.1449	4.322	0.10461	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.005435	0.014620	0.000000	0.008621	0.003049	0.000000	0.08333	1229.83	40	chr14	93928472	.	G	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.578;DP=275;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=2.59;SOR=0.585	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1163	5	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.1667	3385.06	128	chr14	94290332	.	G	A	3385.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.11;DP=442;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.706;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	4	0	2	0
chr14	94443168	94443168	G	T	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon4:c.C975A:p.D325E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0457898341786	.	.	8.249e-06	0	0	0	0	0	0	6.088e-05	6.5e-06	1	154602	rs776006390	6.157e-06	6.156e-06	1.361e-06	1.1e-05	6.957e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	2.698e-06	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.006	0.12133	B	0.075787	0.21202	N	0.434725	0.999998	0.08975	N	-1.245	0.00777	N	-2.23	0.87116	D	0.07	0.06138	N	0.107	0.09207	-0.8704	0.50499	T	0.237	0.60403	T	10	0.026727498	0.00833	T	0.04579	0.62147	D	0.179	0.44899	0.37	0.38013	0.457197642564	0.45345	0.22354304039047163	0.22269	0.0508364684559	0.05582	0.306249260902	0.11340	T	0.023728	0.18060	T	-0.349487	0.04760	T	-0.53619	0.18673	T	0.0185210283293497	0.00568	T	0.462454	0.13421	T	0.0433722	0.06748	0.03328159	0.02197	0.0433722	0.06748	0.03328159	0.02197	-4.046	0.24489	T	.	.	0.082	0.08899	B	.	.	0.208866	0.05926	2.367	0.58398587305192262	0.05984	0.02866	0.07635	N	AEFBI	0.120974	0.23541	N	-1.21596124197101	0.04768	0.2159001	-1.08616054124411	0.07972	0.389981	0.73329070860141	0.23087	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	0.132	0.14061	-1.173000	0.03217	-0.040000	0.12681	-0.179000	0.10443	0.000000	0.06391	0.174000	0.23367	0.469000	0.28319	0.1038:0.4175:0.2166:0.2621	2.805	0.05092	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	459.83	48	chr14	94443168	.	G	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.45;DP=226;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.46;SOR=0.307	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	5	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1167.3	85	chr14	94497802	.	C	T	1167.3	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.282;DP=483;ExcessHet=3.1439;FS=349.365;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.071;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,19:70:99:0|1:94497802_C_T:170,0,1593:94497802	0	0	4	2
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R,SERPINA12:NM_001382267:exon2:c.G595C:p.G199R,SERPINA12:NM_173850:exon3:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.32	85	chr14	94497803	.	C	G	434.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.911;DP=482;ExcessHet=0.4139;FS=136.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.123;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:51,0:70:99:0|1:94497802_C_T:170,321,1967:94497802	5	0	1	0
chr14	94497803	94497803	C	A	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595T:p.G199C,SERPINA12:NM_001382267:exon2:c.G595T:p.G199C,SERPINA12:NM_173850:exon3:c.G595T:p.G199C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0718795230002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.052	0.47581	T	0.999	0.77913	D	0.962	0.70672	D	0.251813	0.15493	N	0.613802	1	0.08975	N	2.82	0.82106	M	-2.34	0.87989	D	-4.13	0.75139	D	0.376	0.41754	-0.1311	0.79376	T	0.706	0.89874	D	10	0.31669664	0.49087	T	0.07188	0.71387	D	0.381	0.69863	0.527	0.63263	0.518970300747	0.51540	0.7226049437517966	0.72204	0.173124322031	0.19496	0.338093519211	0.16151	T	0.270611	0.64289	T	0.0147048	0.53665	T	-0.216654	0.53058	T	0.972673177719116	0.69791	D	0.666933	0.27600	T	0.7266498	0.79535	0.50329554	0.71288	0.7266498	0.79536	0.50329554	0.71288	-7.322	0.56352	T	.	.	0.295	0.53823	B	.;.	.;.	3.507296	0.49099	22.7	0.99640496672547163	0.76633	0.14790	0.18586	N	AEFCI	0.215107	0.34050	N	-0.00496599638126741	0.41630	2.493528	-0.196529388905759	0.31663	1.794084	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.32	85	chr14	94497803	.	C	A	434.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.911;DP=482;ExcessHet=0.4139;FS=136.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.123;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,19:70:99:0|1:94497802_C_T:170,0,1593:94497802	5	0	1	0
chr14	95096079	95096079	T	C	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon22:c.A4841G:p.Q1614R,DICER1:NM_001271282:exon23:c.A4841G:p.Q1614R,DICER1:NM_001291628:exon23:c.A4841G:p.Q1614R,DICER1:NM_177438:exon23:c.A4841G:p.Q1614R,DICER1:NM_030621:exon25:c.A4841G:p.Q1614R	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	.	.	.	.	.	.	.	.	.	463633	DICER1-related_tumor_predisposition|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0260332833224	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs769225805	1.368e-06	1.368e-06	2.722e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.21224	T	0.488	0.11621	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.600559	0.878178	0.35696	D	1.445	0.36358	L	0.46	0.85943	T	-0.23	0.13226	N	0.29	0.49420	-0.7761	0.56520	T	0.374	0.73250	T	10	0.10418111	0.19193	T	0.026033	0.48966	D	0.046	0.12618	.	.	0.684432930218	0.68174	0.4405448944950097	0.43971	0.532241009335	0.50698	0.329925715923	0.14922	T	0.199571	0.55688	T	-0.0170022	0.49280	T	-0.262199	0.48605	T	0.0302731694905276	0.02032	T	0.851815	0.54193	D	0.23923023	0.46810	0.054886512	0.09526	0.23923023	0.46810	0.054886512	0.09525	-3.74	0.21478	T	.	.	0.075	0.06942	B	.;.;.;.;.;.	.;.;.;.;.;.	1.959919	0.24899	16.56	0.98103205592329512	0.38286	0.86068	0.45281	D	AEFBI	0.144504	0.26748	N	-0.427662682455043	0.24503	1.323529	-0.284113578555032	0.28620	1.597238	0.991619945077705	0.32549	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	1.58	0.22557	1.180000	0.31614	2.236000	0.31572	-0.157000	0.11712	0.827000	0.30089	0.997000	0.33255	0.354000	0.25750	0.0:0.0701:0.2687:0.6612	7.509	0.26731	964	0.07719	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1338.83	35	chr14	95096079	.	T	C	1338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.817;DP=291;ExcessHet=0;FS=0.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.012;SOR=0.6	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1349,0,1544	5	0	1	0
chr14	95117750	95117750	T	C	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon8:c.A1381G:p.I461V,DICER1:NM_001271282:exon9:c.A1381G:p.I461V,DICER1:NM_001291628:exon9:c.A1381G:p.I461V,DICER1:NM_177438:exon9:c.A1381G:p.I461V,DICER1:NM_030621:exon11:c.A1381G:p.I461V	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	12	1496	12	2	0	16	0.00531915	.	.	.	241992	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|DICER1-related_tumor_predisposition	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.286	0.0314404593258	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0.0022	0.0002	0.0001294	20	154602	rs141163928	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0	0.0002	7.656e-05	0	0	0.0054	0.0001	0.0003	0.0004	9.855e-05	9.851e-05	0.0001	8.068e-05	0.0002	6.006e-05	4.879e-05	0.0001	8.876e-05	0	0	0	0	0	0	0.0032	0.0002	0.0005	0	0.102	0.30235	T	0.19	0.49942	T	0.844	0.46645	P	0.358	0.43079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.96	0.23930	L	-0.57	0.71307	T	-0.84	0.22944	N	0.755	0.76573	-0.6344	0.63384	T	0.217	0.57941	T	10	0.34696907	0.51641	T	0.03144	0.53520	D	0.286	0.60456	.	.	0.672916388749	0.67015	0.4406704037031083	0.43984	1.02998117833	0.75401	0.841426074505	0.88312	D	0.490694	0.81538	T	-0.191172	0.22086	T	-0.162951	0.58085	T	0.109578865236313	0.13380	T	0.865513	0.56452	D	0.31814665	0.54483	0.21146883	0.45576	0.31814665	0.54483	0.21146883	0.45575	-7.034	0.54281	T	0.28726007813557897	0.38340	0.222	0.45310	B	.;.;.;.;.	.;.;.;.;.	3.317393	0.45614	22.2	0.99902234349908603	0.97350	0.94784	0.62318	D	AEFBHCI	0.869462	0.79001	D	0.350037420187756	0.58741	4.048347	0.453085819352859	0.64915	4.758103	0.999999999999286	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	7.922000	0.86947	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.344	0.74033	970	0.06235	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	611.83	33	chr14	95117750	.	T	C	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=210;ExcessHet=0;FS=2.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.421;SOR=1.135	GT:AD:DP:GQ:PL	0/1:21,24:45:99:622,0,494	5	0	1	0
chr14	96290844	96290844	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon39:c.G5671A:p.V1891I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0132799966542	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs751604425	8.894e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	8.895e-05	7.061e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.0	0.92824	D	0.995	0.67487	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.75	0.45442	L	2.6	0.13204	T	-0.88	0.23808	N	0.719	0.72120	-1.1483	0.01077	T	0.087	0.33606	T	10	0.6598228	0.70088	D	0.01328	0.32560	T	0.225	0.52323	0.338	0.32816	0.626192467405	0.62315	0.5956666465517757	0.59496	0.528953778079	0.50459	0.608346581459	0.54082	T	0.019438	0.15489	T	-0.233201	0.16228	T	-0.313074	0.43327	T	0.591672539710999	0.36072	D	0.849215	0.53152	T	0.185112	0.39859	0.12711845	0.30605	0.185112	0.39859	0.12711845	0.30604	-6.994	0.53990	T	.	.	0.115	0.22861	B	.	.	4.369942	0.67273	25.1	0.99845038608533088	0.92489	0.98404	0.82430	D	AEFGBI	0.755017	0.69471	D	0.656324626096277	0.76781	6.549782	0.631637403694383	0.77249	6.643206	0.999999999998921	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	7.568000	0.81546	5.927000	0.51257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	19.049	0.93018	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	532.83	33	chr14	96290844	.	C	T	532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=206;ExcessHet=0;FS=5.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.219;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1145	5	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	59.92	26	chr14	96328709	.	G	C	59.92	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.153;DP=147;ExcessHet=0;FS=35.4;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=2.23;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:7:.:.:0,7,218:.	4	0	1	1
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	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	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	86.08	26	chr14	96328715	.	G	C	86.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.468;DP=143;ExcessHet=0.4139;FS=59.017;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.33;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:27:.:.:0,27,262:.	4	0	2	0
chr14	103135947	103135947	C	T	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon13:c.C2095T:p.R699C,TNFAIP2:NM_001371221:exon13:c.C2095T:p.R699C	.	417	1093	10	2	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0037858089141	.	0.000399361	0.0006	0	0	0	0	0.0015	0	0.0003	0.00011	17	154602	rs41310340	0.0004	0.0004	0.0004	0.0004	0.0093	0.0004	0.0003	0.0071	0.0063	8.187e-05	0.0014	0.0024	7.763e-05	7.899e-05	0.0093	0.0003	0.0010	0.0001	0.0008	0.0008	0.0007	0.0008	0.0034	0.0007	0.0006	0.0027	0.0024	4.808e-05	0	0.0034	0.0020	0	9.406e-05	0.0238	0.0007	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	873.83	38	chr14	103135947	.	C	T	873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=299;ExcessHet=0;FS=2.856;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.112;SOR=1.014	GT:AD:DP:GQ:PL	0/1:52,37:89:99:884,0,1179	5	0	1	0
chr14	103587321	103587321	G	A	exonic	COA8	.	nonsynonymous SNV	COA8:NM_001302652:exon4:c.G433A:p.E145K,COA8:NM_001370595:exon4:c.G433A:p.E145K,COA8:NM_001302653:exon5:c.G521A:p.G174E	.	434	1084	3	1	0	5	0.00230097	.	.	.	1673774	not_provided|Mitochondrial_complex_4_deficiency,_nuclear_type_17	MedGen:C3661900|MONDO:MONDO:0033652,MedGen:C5436718,OMIM:619061	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0241504579155	.	0.000199681	9.132e-05	0	0	0	0	7.568e-05	0	0.0004	7.76e-05	12	154602	rs562472810	7.05e-05	7.046e-05	4.767e-05	9.356e-05	0.0009	5.916e-05	5.525e-05	0.0004	0.0004	0	2.241e-05	0	0	0	0.0009	4.228e-05	8.286e-05	0.0005	3.944e-05	3.938e-05	3.859e-05	4.033e-05	0.0004	1.716e-05	1.13e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	0.233	0.61437	T	0.422	0.92824	T	0.801	0.45051	P	0.339	0.42346	B	0.025408	0.26093	N	0.434151	0.981394	0.25042	N	1.87	0.49600	L	0.87	0.46412	T	-2.15	0.48687	N	0.37	0.45992	-1.0050	0.28457	T	0.094	0.35551	T	10	0.11069894	0.20700	T	0.02415	0.47134	T	0.159	0.41286	.	.	0.49908893446	0.49543	0.22311857579520908	0.22226	0.164175052021	0.22694	.	.	.	0.011599	0.10324	T	-0.284799	0.10166	T	-0.336352	0.40758	T	0.098538315313443	0.12196	T	0.907909	0.67446	D	0.09443751	0.22203	0.1596996	0.37232	0.09443751	0.22203	0.1596996	0.37232	-3.853	0.21599	T	.	.	0.202	0.67560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.271212	0.29029	17.99	0.9980145951358621	0.88639	0.82634	0.41835	D	AEFI	0.471559	0.51705	N	-0.169786759042494	0.34397	1.962769	-0.0715123900155883	0.36572	2.130154	0.954451321020977	0.28132	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.91	5.02	0.66742	3.454000	0.52750	6.366000	0.55516	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.0845:0.0:0.9155:0.0	11.065	0.47190	851	0.35303	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	486.83	34	chr14	103587321	.	G	A	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.667;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.036;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	5	0	1	0
chr14	103975473	103975473	T	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.T931C:p.Y311H	.	.	.	.	.	.	.	.	.	.	.	2373708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00623647484305	.	.	9.477e-05	0	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs764483040	6.295e-05	6.293e-05	6.399e-05	6.189e-05	0.0001	5.229e-05	4.846e-05	6.323e-05	5.825e-05	0	0.0001	0	0	0	0	7.645e-05	3.313e-05	0	5.913e-05	5.91e-05	5.138e-05	6.723e-05	0.0001	3.077e-05	2.21e-05	5.841e-05	4.239e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.577	0.06049	T	0.123	0.35582	T	0.012	0.16265	B	0.02	0.19048	B	0.055147	0.22665	N	0.377447	0.999995	0.08975	N	1.79	0.46772	L	4.27	0.02513	T	-0.99	0.26200	N	0.245	0.27673	-1.0017	0.29430	T	0.012	0.04653	T	10	0.09786022	0.17653	T	0.006236	0.16347	T	0.048	0.13305	0.645	0.78224	0.170165803431	0.16609	0.6562136160662583	0.65557	0.278161204612	0.30303	0.346315026283	0.17378	T	0.112681	0.42914	T	-0.437265	0.01342	T	-0.610832	0.11917	T	0.0550469388983849	0.06364	T	0.808019	0.45805	T	0.059917342	0.12234	0.057719693	0.10544	0.059917342	0.12234	0.057719693	0.10543	-5.718	0.43853	T	.	.	0.096	0.28232	B	.;.	.;.	1.383513	0.17953	13.46	0.87846619740112741	0.17525	0.76013	0.37250	D	AEFDI	0.302762	0.41092	N	-0.391027981910677	0.25787	1.402488	-0.358706164840169	0.26240	1.448126	0.414014300746783	0.20236	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	2.68	0.30839	2.314000	0.43403	1.116000	0.24201	0.665000	0.62972	0.915000	0.31815	0.002000	0.18203	0.988000	0.63387	0.0:0.1733:0.0:0.8267	8.595	0.32874	465	0.78421	Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1256.83	35	chr14	103975473	.	T	C	1256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=262;ExcessHet=0;FS=1.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.26;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	5	0	1	0
chr14	104175384	104175384	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2596A:p.G866R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0516955374921	.	.	8.615e-05	0	0.0004	0	0	0	0	0.0003	5.17e-05	8	154602	rs779918856	3.043e-05	3.283e-05	2.476e-05	3.617e-05	0.0003	2.307e-05	2.055e-05	0.0002	0.0002	0	0.0003	0	2.538e-05	0	0	3.607e-06	5.003e-05	0.0002	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0	0.0002	0.252	0.17014	T	0.321	0.19073	T	0.013	0.16609	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.42	0.12520	N	-1.09	0.77206	T	-0.57	0.17210	N	0.102	0.08786	-0.9771	0.35660	T	0.216	0.57745	T	9	0.043236494	0.03151	T	0.051696	0.64767	D	0.149	0.39377	0.173	0.07894	0.518199804421	0.51461	0.20226789382741747	0.20143	0.0986521047043	0.11146	0.61425101757	0.54916	T	0.021131	0.16509	T	-0.356323	0.04342	T	-0.419609	0.31120	T	0.0163884896856001	0.00407	T	0.551745	0.19033	T	0.087105185	0.20272	0.04977922	0.07678	0.087105185	0.20272	0.04977922	0.07678	-4.287	0.27994	T	.	.	0.092	0.13362	B	.;.	.;.	0.824991	0.11966	8.523	0.60188172507091076	0.06403	0.00891	0.03504	N	AEFBI	0.046566	0.07747	N	-1.07699657055927	0.07069	0.3273018	-1.150134262861	0.06765	0.3267731	0.750815909112786	0.23357	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.61	-0.96	0.09812	0.767000	0.26238	0.107000	0.14728	-0.810000	0.03076	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2249:0.2815:0.2667:0.2269	0.504	0.00546	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1543.83	57	chr14	104175384	.	G	A	1543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=381;ExcessHet=0;FS=4.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.997;SOR=0.712	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1554,0,1584	5	0	1	0
chr14	104594306	104594306	C	G	exonic	TMEM179	.	nonsynonymous SNV	TMEM179:NM_001286390:exon4:c.G612C:p.K204N	.	511	1007	4	0	0	4	0.00198216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs61745821	0.0009	0.0007	0.0009	0.0009	0.0124	0.0008	0.0008	0.0092	0.0081	0.0006	0.0002	0.0191	0	0	0.0124	0.0006	0.0022	0.0010	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0007	0.0005	0.0005	0.0002	0	0.0005	0.0176	0	0	0.0205	0.0007	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.0077750683	0.00177	T	.	.	.	.	.	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	.	.	.	-0.737734	0.00021	T	-0.906594	0.00457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.46505	B	.	.	0.765788	0.11358	7.973	0.47864348023927489	0.03948	0.01051	0.03915	N	AEFDBI	.	.	.	.	.	.	.	.	.	6.97415211356231E-4	0.07645	0.055982	0.00716	0	0.059962	0.00310	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0498113	0.09340	2.49	-0.616	0.11002	0.364000	0.20053	-1.724000	0.04844	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4834:0.2281:0.2885	3.142	0.06072	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	.	.	.	.	.	.	.	.	0.08333	1162.83	41	chr14	104594306	.	C	G	1162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.667;DP=310;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.551;SOR=0.58	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	5	0	1	0
chr14	104709620	104709620	A	G	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon12:c.A2053G:p.I685V,INF2:NM_022489:exon12:c.A2053G:p.I685V	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	0	1505	16	1	0	18	0.00594452	0	0.008	.	320228	Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.025	0.013117265279	8.3e-05	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0002	0.0001682	26	154602	rs199526439	0.0003	0.0003	0.0002	0.0003	0.0120	0.0002	0.0002	0.0097	0.0089	0.0006	0.0002	0.0001	0	0	0.0120	0.0002	0.0007	0.0004	0.0002	0.0002	0.0002	0.0003	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0.0238	0.0002	0.0005	0.0004	0.325	0.14694	T	0.16	0.31427	T	0.047	0.22967	B	0.02	0.22546	B	0.000091	0.51296	U	0.127551	0.914351	0.36497	D	0.835	0.21042	L	2.35	0.16217	T	-0.52	0.19933	N	0.125	0.11769	-1.0284	0.20973	T	0.027	0.11707	T	9	0.04631102	0.03807	T	0.013117	0.32271	T	0.025	0.05312	.	.	0.193917141947	0.19028	0.2804306880011572	0.27956	0.206038772455	0.23027	0.381326824427	0.22445	T	0.031427	0.22039	T	-0.497721	0.00589	T	-0.655159	0.08596	T	0.00993273182115023	0.00132	T	0.754325	0.43953	T	0.02905946	0.02339	0.029722253	0.01343	0.02905946	0.02339	0.029722253	0.01343	-5.963	0.45969	T	0.3326147830562283	0.43060	0.080	0.11124	B	.;.;.	.;.;.	0.963761	0.13404	9.911	0.51470064624187606	0.04569	0.83380	0.42501	D	AEFDBCI	0.239344	0.36132	N	-0.60452852861894	0.18807	0.9794055	-0.586645354771787	0.19841	1.066342	0.999586847085766	0.40607	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.17	1.79	0.23992	0.701000	0.25293	2.078000	0.30479	0.756000	0.94297	0.219000	0.24524	0.995000	0.32472	0.724000	0.34901	0.707:0.0:0.293:0.0	6.511	0.21419	957	0.09725	.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 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	0.011581	0.010101	0.017663	0.023392	0.000000	0.008621	0.000000	0.000000	0.08333	497.83	34	chr14	104709620	.	A	G	497.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.335;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	5	0	1	0
chr14	104883146	104883146	C	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon7:c.C479A:p.T160K,CEP170B:NM_001112726:exon8:c.C689A:p.T230K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.54535221239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-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	0.99999	0.58761	D	3.165	0.88605	M	0.79	0.49068	T	-5.05	0.84035	D	0.597	0.68255	-0.3070	0.74790	T	0.307	0.67768	T	10	0.75032794	0.75589	D	0.545352	0.95785	D	0.362	0.68230	0.296	0.26041	0.432587166891	0.42875	0.785510120291914	0.78502	0.785854350698	0.65505	0.661141514778	0.61573	T	0.403752	0.76041	T	0.0471387	0.57973	T	-0.170065	0.57437	T	0.998185575008392	0.93453	D	0.948305	0.80045	D	.	.	.	.	.	.	.	.	-13.357	0.93364	D	.	.	0.553	0.68669	A	.;.;.	.;.;.	3.734745	0.53444	23.4	0.98746391134915312	0.45587	0.99441	0.96068	D	AEFDBI	0.891661	0.82783	D	0.499213835116537	0.67045	5.029483	0.359664656357954	0.59092	4.084221	0.999999999985141	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	3.32	3.32	0.37134	7.731000	0.83835	3.893000	0.40305	0.524000	0.24156	1.000000	0.71638	0.999000	0.35428	0.783000	0.37026	0.0:1.0:0.0:0.0	14.774	0.69325	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	.	.	.	.	.	.	.	.	0.08333	1084.83	36	chr14	104883146	.	C	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.38;DP=270;ExcessHet=0;FS=4.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.62;SOR=1.262	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr14	104928867	104928867	G	A	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon4:c.G424A:p.V142M,PLD4:NM_138790:exon4:c.G403A:p.V135M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00199681	0.0009	0	0	0.0120	0	1.532e-05	0	0	0.0007956	123	154602	rs3803295	0.0003	0.0003	0.0003	0.0004	0.0115	0.0003	0.0003	0.0106	0.0103	2.988e-05	0	0	0.0115	0	0.0002	1.17e-05	0.0002	9.276e-05	0.0005	0.0005	0.0004	0.0006	0.0127	0.0004	0.0004	0.0103	0.0094	2.405e-05	0	6.533e-05	0	0.0127	0	0	7.35e-05	0	0	0.024	0.47745	D	0.058	0.46406	T	0.402	0.34891	B	0.147	0.34014	B	0.012858	0.29033	N	0.275018	0.999236	0.21473	N	2.24	0.63355	M	2.5	0.14408	T	-1.97	0.45587	N	0.334	0.37509	-1.0783	0.07681	T	0.015	0.06282	T	10	0.009185493	0.00207	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.7527918913284705	0.75226	0.258511440813	0.28405	0.773303627968	0.77918	T	0.068527	0.33479	T	-0.531486	0.00376	T	-0.522594	0.20031	T	0.040504686953913	0.03782	T	0.674733	0.28305	T	0.059357964	0.12053	0.09065059	0.21270	0.059357964	0.12052	0.09065059	0.21270	-6.279	0.48556	T	.	.	0.235	0.46848	B	.;.;.;.	.;.;.;.	2.004253	0.25467	16.77	0.99458860756337464	0.65684	0.28627	0.23605	N	AEFDBI	0.100960	0.20289	N	-0.474208468615147	0.22927	1.227693	-0.520008594507326	0.21610	1.169866	0.999648190856102	0.41316	0.648238	0.45900	0	0.693144	0.66847	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.45	2.58	0.30011	2.041000	0.40834	0.901000	0.22550	0.656000	0.54149	0.991000	0.37257	0.245000	0.23879	0.367000	0.26044	0.3264:0.0:0.6736:0.0	6.369	0.20676	982	0.03397	.;.;.;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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1302.83	35	chr14	104928867	.	G	A	1302.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.521;DP=305;ExcessHet=0;FS=1.474;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.325;SOR=0.814	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1313,0,1424	5	0	1	0
chr14	104930007	104930007	C	T	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon6:c.C640T:p.R214W,PLD4:NM_138790:exon6:c.C619T:p.R207W	.	.	.	.	.	.	.	.	.	.	.	2297415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0108576405845	.	.	5.013e-05	0	0	0	0	9.111e-05	0	0	5.82e-05	9	154602	rs746101864	4.927e-05	4.925e-05	5.311e-05	4.54e-05	5.936e-05	3.994e-05	3.671e-05	4.786e-05	4.366e-05	0	0	0	2.519e-05	0	0	5.936e-05	3.312e-05	3.478e-05	7.886e-05	7.881e-05	8.994e-05	6.726e-05	0.0004	4.497e-05	3.513e-05	0.0002	0.0001	2.414e-05	0	0.0004	0	0	0	0	7.351e-05	0	0	0.006	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.84	0.60170	P	0.131655	0.18615	N	0.548950	0.999997	0.08975	N	2.965	0.85198	M	1.8	0.25509	T	-5.17	0.83489	D	0.42	0.45992	-0.9311	0.43977	T	0.126	0.43257	T	10	0.24359462	0.41577	T	0.010858	0.27874	T	0.107	0.30369	0.545	0.65873	0.471941563831	0.46822	0.563174634371461	0.56244	0.328705556561	0.34977	0.283849298954	0.08035	T	0.082123	0.36756	T	-0.315386	0.07282	T	-0.493163	0.23060	T	0.793707430362701	0.45933	D	0.893711	0.82144	D	0.23649484	0.46500	0.26417398	0.52233	0.23649484	0.46500	0.26417398	0.52233	-8.405	0.63798	D	.	.	0.090	0.13690	B	.;.;.;.	.;.;.;.	3.013353	0.40302	21.1	0.99655140728175884	0.77568	0.07025	0.13051	N	AEFDGBI	0.377091	0.46099	N	-0.479138387420667	0.22765	1.217896	-0.726060627635678	0.16313	0.8623732	0.993739236038795	0.33333	0.695654	0.57023	0	0.723109	0.82256	0	0.563428	0.18855	0	0.562822	0.20929	0	.	.	3.87	-0.678	0.10782	0.033000	0.13642	-0.665000	0.07962	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.6983:0.3017:0.0:0.0	13.826	0.62845	982	0.03397	.;.;.;Phospholipase D-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1869.83	35	chr14	104930007	.	C	T	1869.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.191;DP=332;ExcessHet=0;FS=1.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.6;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	5	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	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	.	.	.	.	.	.	.	.	0.08333	61.83	258	chr14	104944175	.	G	A	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.276;DP=1425;ExcessHet=0;FS=31.455;MLEAC=1;MLEAF=0.083;MQ=58.97;MQRankSum=-16.98;QD=0.19;ReadPosRankSum=-1.761;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:221,0:221:99:.:.:0,120,1800:.	5	0	1	0
chr14	104944556	104944556	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10595T:p.T3532I,AHNAK2:NM_138420:exon7:c.C10895T:p.T3632I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0130735102392	0.0002	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs202237811	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.963e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0006	9.765e-05	8.276e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0034	0.0002	0	0.0006	0.175	0.22400	T	0.245	0.24054	T	0.358	0.33818	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	5.86	0.00639	T	-1.03	0.27052	N	0.14	0.13911	-0.9405	0.42536	T	0.004	0.01159	T	9	0.016932905	0.00359	T	0.013074	0.32181	T	0.033	0.08068	.	.	0.0401082797425	0.02173	0.010944020111439067	0.01055	.	.	0.2281909585	0.01836	T	0.02077	0.16293	T	-0.517433	0.00455	T	-0.633861	0.10123	T	0.0228993454467245	0.01012	T	0.486851	0.14885	T	0.038488995	0.05137	0.03578337	0.02895	0.038488995	0.05137	0.03578337	0.02895	-8.278	0.62949	D	.	.	0.159	0.35098	B	.	.	1.511782	0.19420	14.25	0.81535265342177599	0.13733	0.03752	0.09057	N	AEFBI	.	.	.	-0.670152928697176	0.16876	0.8636414	-0.789697700629114	0.14747	0.7721846	1.37143271644235E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.11	1.88	0.24630	-0.110000	0.10794	-9.866000	0.00767	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1073:0.0:0.5615:0.3313	5.857	0.17976	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	.	.	.	.	.	.	.	.	0.08333	4433.83	252	chr14	104944556	.	G	A	4433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.452;DP=1386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=13.81;ReadPosRankSum=0.468;SOR=0.685	GT:AD:DP:GQ:PL	0/0:205,0:205:99:0,120,1800	5	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.08333	360.83	174	chr14	104945711	.	T	C	360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.84;DP=790;ExcessHet=0;FS=16.953;MLEAC=1;MLEAF=0.083;MQ=56;MQRankSum=-8.253;QD=2.58;ReadPosRankSum=1.79;SOR=2.364	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	5	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2239.79	257	chr14	104946202	.	GAC	G	2239.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.227;DP=1115;ExcessHet=0;FS=6.731;MLEAC=1;MLEAF=0.083;MQ=45.28;MQRankSum=-3.266;QD=13.49;ReadPosRankSum=0.196;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:222,0:222:99:.:.:0,120,1800:.	5	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	17240.8	257	chr14	104946204	.	C	*	17240.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.928;DP=1192;ExcessHet=3.1439;FS=9.218;MLEAC=1;MLEAF=0.083;MQ=53.26;MQRankSum=-12.71;QD=14.94;ReadPosRankSum=-0.339;SOR=0.367	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:157,0:228:99:0|1:104946204_C_T:2500,2973,9532:104946204	5	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2309.79	235	chr14	104946206	.	T	TGC	2309.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.942;DP=1075;ExcessHet=0;FS=6.589;MLEAC=1;MLEAF=0.083;MQ=44.36;MQRankSum=-2.943;QD=13.67;ReadPosRankSum=-0.02;SOR=0.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:208,0:208:99:.:.:0,120,1800:.	5	0	1	0
chr14	104949074	104949074	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C6077G:p.P2026R,AHNAK2:NM_138420:exon7:c.C6377G:p.P2126R	.	838	683	1	0	0	1	0.000731529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.00399361	0.0347	0.0464	0.0173	0.0541	0.0137	0.0229	0.0459	0.0748	0.0008068	21	26028	rs545833279	0.0007	0.0010	0.0007	0.0008	0.0032	0.0007	0.0007	0.0028	0.0026	0.0016	0.0009	0.0011	0.0029	0.0004	0.0006	0.0003	0.0014	0.0032	0.0005	0.0008	0.0006	0.0004	0.0011	0.0004	0.0003	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0008	0	0	0.0002	0.0010	0.0011	0.004	0.65419	D	0.017	0.60337	D	0.485	0.36856	P	0.261	0.39516	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	3.6	0.04494	T	-5.76	0.87835	D	0.094	0.07398	-1.0816	0.07041	T	0.036	0.15509	T	9	0.0035232008	0.00063	T	.	.	.	0.098	0.28162	.	.	.	.	0.009788836885484457	0.00940	.	.	0.221396118402	0.01392	T	0.156222	0.49830	T	-0.235321	0.15950	T	-0.575799	0.14921	T	0.0605766607648034	0.07258	T	0.371363	0.08780	T	0.08241573	0.18984	0.16221161	0.37691	0.08241573	0.18984	0.16221161	0.37690	-7.718	0.59133	D	.	.	0.130	0.27880	B	.	.	1.022998	0.14027	10.59	0.99597670973215935	0.73983	0.75923	0.37200	D	AEFBI	.	.	.	-0.146980122350168	0.35362	2.030258	-0.285692830019549	0.28568	1.593936	6.08133509168249E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.16	3.24	0.36257	1.017000	0.29591	0.261000	0.16544	-2.030000	0.00430	0.718000	0.28801	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6085:0.3915	9.245	0.36682	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	757.8	.	chr14	104949074	.	G	C	757.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.71;DP=551;ExcessHet=0;FS=9.745;MLEAC=1;MLEAF=0.125;MQ=58.35;MQRankSum=-11.59;QD=3.91;ReadPosRankSum=-0.141;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	3	0	1	2
chr14	104949094	104949094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6057C:p.M2019I,AHNAK2:NM_138420:exon7:c.G6357C:p.M2119I	.	826	695	1	0	0	1	0.000718907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0368	0.0484	0.0183	0.0610	0.0142	0.0240	0.0466	0.0793	3.84e-05	1	26028	rs199873247	0.0009	0.0010	0.0008	0.0009	0.0042	0.0008	0.0008	0.0036	0.0034	0.0016	0.0010	0.0010	0.0042	0.0005	0.0006	0.0004	0.0015	0.0034	0.0006	0.0008	0.0007	0.0005	0.0016	0.0005	0.0004	0.0008	0.0006	0.0011	0.0017	0.0005	0	0.0016	0	0	0.0003	0.0010	0.0016	0.208	0.19782	T	0.558	0.09175	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	1	0.21028	N	0.55	0.14455	N	5.89	0.00629	T	0.03	0.06612	N	0.027	0.00571	-0.9084	0.47049	T	0.002	0.00738	T	9	0.0030561388	0.00050	T	.	.	.	0.020	0.03691	0.255	0.19533	.	.	0.005157390116853562	0.00486	.	.	0.178342416883	0.00079	T	0.015128	0.12745	T	-0.376966	0.03256	T	-0.779262	0.02476	T	0.00239159522359801	0.00025	T	0.480552	0.14510	T	0.13128155	0.30606	0.12269506	0.29593	0.13128155	0.30605	0.12269506	0.29592	-5.577	0.42582	T	.	.	0.253	0.48736	B	.	.	0.092124	0.04957	1.523	0.58574301978269405	0.06024	0.02166	0.06356	N	AEFBI	.	.	.	-0.990019499376126	0.08816	0.4148285	-1.00662784791001	0.09639	0.4807123	2.38740922418111E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	2.38	0.28415	-2.219000	0.01301	-20.000000	0.00162	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.205:0.4504:0.2466:0.0979	3.163	0.06135	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.098684	0.081250	0.122642	0.074468	0.000000	0.074468	0.076577	0.136792	0.125	1129.8	.	chr14	104949094	.	C	G	1129.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.748;DP=526;ExcessHet=0;FS=10.37;MLEAC=1;MLEAF=0.125;MQ=57.63;MQRankSum=-10.44;QD=6.69;ReadPosRankSum=1.77;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	3	0	1	2
chr14	104949096	104949096	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A6055G:p.M2019V,AHNAK2:NM_138420:exon7:c.A6355G:p.M2119V	.	829	690	1	2	0	5	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0393	0.0626	0.0205	0.0640	0.0145	0.0246	0.0502	0.0813	0.0002689	7	26028	rs199970974	0.0016	0.0076	0.0016	0.0016	0.0113	0.0015	0.0015	0.0103	0.0099	0.0113	0.0024	0.0015	0.0050	0.0006	0.0021	0.0006	0.0032	0.0047	0.0055	0.0093	0.0057	0.0052	0.0170	0.0050	0.0049	0.0155	0.0149	0.0170	0.0035	0.0036	0	0.0034	0	0	0.0008	0.0080	0.0035	1.0	0.00964	T	0.444	0.13177	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.005	0.01165	N	5.91	0.00623	T	0.22	0.04694	N	0.017	0.00226	-0.9653	0.38151	T	0.001	0.00348	T	9	0.0026950836	0.00042	T	.	.	.	0.008	0.00669	.	.	.	.	0.005194985040938393	0.00490	.	.	0.186300992966	0.00166	T	0.015031	0.12687	T	-0.454455	0.01063	T	-0.89057	0.00571	T	0.000298728606434334	0.00002	T	0.363264	0.08416	T	0.034015387	0.03734	0.057699602	0.10537	0.034015387	0.03734	0.057699602	0.10536	-1.675	0.02164	T	.	.	0.056	0.00428	B	.	.	-2.264818	0.00055	0.001	0.31825851185022491	0.01813	0.00319	0.01677	N	AEFBI	.	.	.	-2.08229068781637	0.00140	0.00599041	-2.05838207092252	0.00229	0.01010856	3.56203564765778E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.31	-2.8	0.05477	-3.781000	0.00414	-20.000000	0.00162	-3.188000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1064:0.1654:0.2303:0.4979	3.036	0.05753	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	0.109354	0.113924	0.130094	0.075269	0.000000	0.076087	0.076577	0.154206	0.125	1129.8	.	chr14	104949096	.	T	C	1129.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.528;DP=528;ExcessHet=0;FS=10.37;MLEAC=1;MLEAF=0.125;MQ=57.38;MQRankSum=-10.44;QD=6.69;ReadPosRankSum=1.2;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	3	0	1	2
chr14	104949915	104949915	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5236C:p.V1746L,AHNAK2:NM_138420:exon7:c.G5536C:p.V1846L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00319830884034	0.0004	0.00119808	0.0003	0.0027	0.0004	0.0001	0	3.035e-05	0	0.0002	0.0002975	46	154602	rs372488743	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0003	0	5.039e-05	0	0	6.379e-05	0.0003	7.019e-05	0.0009	0.0009	0.0009	0.0009	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	6.859e-05	0	0.0008	0	0	9.047e-05	0.0015	0.0006	1.0	0.00964	T	0.958	0.02562	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.44	0.00979	T	0.62	0.02442	N	0.032	0.00825	-0.9251	0.44844	T	0.002	0.00676	T	9	0.0060581565	0.00136	T	0.003198	0.07026	T	0.011	0.01250	0.208	0.12497	0.0138822411134	0.00435	0.005942077431607328	0.00563	.	.	0.232460722327	0.02155	T	0.015697	0.13114	T	-0.696352	0.00038	T	-0.775143	0.02603	T	0.00209278565339374	0.00022	T	0.492651	0.15191	T	0.027752869	0.02013	0.0362239	0.03027	0.027752869	0.02012	0.0362239	0.03027	-8.084	0.61641	D	.	.	0.178	0.38782	B	.	.	-0.943069	0.00856	0.030	0.12012696699281185	0.00197	0.03849	0.09203	N	AEFBI	.	.	.	-1.46246045480056	0.02121	0.0933042	-1.47044462695258	0.02590	0.1193756	9.56943912249564E-5	0.04910	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	-0.408	0.11764	-1.409000	0.02589	-13.697000	0.00444	-1.897000	0.00527	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4046:0.5061:0.0893	9.335	0.37204	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	.	.	.	.	.	.	.	.	0.08333	2308.83	135	chr14	104949915	.	C	G	2308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.68;DP=1472;ExcessHet=0;FS=37.444;MLEAC=1;MLEAF=0.083;MQ=56.84;MQRankSum=-2.508;QD=7.85;ReadPosRankSum=1.03;SOR=1.196	GT:AD:DP:GQ:PL	0/0:420,0:420:99:0,120,1800	5	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	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	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.1667	8693.04	135	chr14	104950043	.	A	G	8693.04	.	AC=2;AF=0.167;AN=12;DP=1158;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.34;QD=27.91;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800:.	5	1	0	0
chr14	104950410	104950410	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4741C:p.V1581L,AHNAK2:NM_138420:exon7:c.G5041C:p.V1681L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00973767702888	.	0.000199681	2.521e-05	0.0001	0	0	0	1.517e-05	0	6.125e-05	2.59e-05	4	154602	rs201340294	8.33e-06	1.103e-05	9.673e-06	6.974e-06	6.03e-05	4.44e-06	3.51e-06	1.596e-05	9.39e-06	6.03e-05	0	0	0	0	0	3.647e-06	3.359e-05	4.696e-05	4.092e-05	4.672e-05	6.647e-05	1.4e-05	0.0001	1.769e-05	1.165e-05	3.347e-05	1.98e-05	0.0001	0	6.879e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.12	0.32230	B	.	.	.	.	1	0.18198	N	0.245	0.09735	N	4.99	0.01332	T	0.25	0.04456	N	0.038	0.01203	-0.8922	0.48740	T	0.003	0.01026	T	9	0.023446828	0.00613	T	0.009738	0.25427	T	0.027	0.05988	0.16	0.06396	0.0138822411134	0.00435	0.002769478969881453	0.00257	.	.	0.222423136234	0.01454	T	0.015279	0.12850	T	-0.507211	0.00521	T	-0.784203	0.02329	T	0.0432517694809705	0.04284	T	0.516048	0.16641	T	0.03305123	0.03447	0.030471666	0.01508	0.03305123	0.03447	0.030471666	0.01508	-8.401	0.63772	D	.	.	0.142	0.31253	B	.	.	-1.057321	0.00693	0.020	0.14622675033592111	0.00329	0.02512	0.07007	N	AEFBI	.	.	.	-1.64159329193304	0.01071	0.04647693	-1.73696083434686	0.00983	0.04405563	0.00475530842986958	0.10700	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-5.81	0.02148	-2.686000	0.00905	-13.511000	0.00454	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1196:0.2724:0.3702:0.2378	2.251	0.03797	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	.	.	.	.	.	.	.	.	0.08333	1467.83	136	chr14	104950410	.	C	G	1467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=1841;ExcessHet=0;FS=6.587;MLEAC=1;MLEAF=0.083;MQ=58.63;MQRankSum=-8.596;QD=5.13;ReadPosRankSum=-3.225;SOR=1.099	GT:AD:DP:GQ:PL	0/0:373,0:373:99:0,120,1800	5	0	1	0
chr14	104950428	104950428	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4723G:p.K1575E,AHNAK2:NM_138420:exon7:c.A5023G:p.K1675E	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0024	0.00579073	0.0016	0.0066	0.0040	0.0078	0	0.0001	0.0023	0.0004	0.0015653	242	154602	rs190165756	0.0006	0.0006	0.0006	0.0005	0.0077	0.0006	0.0005	0.0070	0.0067	0.0072	0.0028	3.88e-05	0.0077	1.92e-05	0.0003	8.205e-05	0.0009	0.0004	0.0023	0.0023	0.0024	0.0021	0.0082	0.0021	0.0020	0.0062	0.0055	0.0063	0	0.0015	0	0.0082	0	0.0034	0.0002	0.0015	0.0007	0.478	0.08286	T	0.238	0.24549	T	0.983	0.60381	D	0.978	0.74104	D	.	.	.	.	1	0.81001	D	2.33	0.66821	M	5.78	0.00681	T	-1.15	0.29525	N	0.187	0.20395	-1.0398	0.17374	T	0.006	0.02093	T	9	0.006961435	0.00158	T	.	.	.	0.096	0.27654	.	.	0.0551355673512	0.04727	0.0039706299088745865	0.00372	.	.	0.257249176502	0.04569	T	0.019657	0.15622	T	-0.571382	0.00217	T	-0.590081	0.13659	T	0.0198273499705426	0.00684	T	0.692231	0.30167	T	0.19792527	0.41676	0.10043962	0.24015	0.19792527	0.41676	0.10043962	0.24015	-9.856	0.73045	D	.	.	0.179	0.39064	B	.	.	2.333315	0.29889	18.27	0.94255251961912712	0.24530	0.18232	0.20175	N	AEFBI	.	.	.	-0.255816846521136	0.30872	1.725544	-0.450780250098706	0.23527	1.283458	0.165191738801595	0.17653	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	3.97	0.45241	0.442000	0.21343	-1.400000	0.05528	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	11.157	0.47719	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	5500.83	136	chr14	104950428	.	T	C	5500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.577;DP=1884;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=0.566;QD=12.17;ReadPosRankSum=0.558;SOR=0.661	GT:AD:DP:GQ:PL	0/0:373,0:373:99:0,120,1800	5	0	1	0
chr14	104951031	104951031	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4120T:p.R1374W,AHNAK2:NM_138420:exon7:c.C4420T:p.R1474W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00688079849206	.	0.00259585	0.0001	0	0	0	0	9.511e-05	0	0.0005	0.0004995	13	26028	rs536790569	0.0001	8.851e-05	8.742e-05	0.0001	0.0008	8.955e-05	8.357e-05	0.0006	0.0006	9.431e-05	8.422e-05	0	2.571e-05	0	0	6.795e-05	2.422e-05	0.0008	0.0001	0.0002	5.389e-05	0.0002	0.0010	9.161e-05	7.402e-05	0.0004	0.0003	0	0	8.917e-05	0	0.0010	0	0	0.0001	0.0014	0.0006	0.007	0.59928	D	0.025	0.56192	D	0.979	0.59044	D	0.14	0.33554	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	5.46	0.00959	T	-1.23	0.31170	N	0.188	0.20528	-0.8763	0.50052	T	0.003	0.01026	T	9	0.012402773	0.00267	T	0.006881	0.18205	T	0.118	0.32913	0.311	0.28451	0.152612264143	0.14878	0.007841199481338774	0.00749	.	.	0.210725963116	0.00842	T	0.020888	0.16365	T	-0.575089	0.00206	T	-0.672966	0.07420	T	0.0823292955756187	0.10283	T	0.383462	0.09368	T	0.040735435	0.05870	0.040628422	0.04436	0.040735435	0.05869	0.040628422	0.04436	-6.323	0.48904	T	.	.	0.086	0.10594	B	.	.	1.876222	0.23830	16.17	0.94703942961988274	0.25360	0.00792	0.03237	N	AEFBI	.	.	.	-0.711472819774354	0.15698	0.7934441	-0.952897858325336	0.10855	0.5494772	1.02432179258145E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	1.9	0.459	0.15890	-0.471000	0.06709	-3.942000	0.02438	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1491:0.5113:0.3396	5.191	0.14534	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	0.002710	0.000000	0.003268	0.000000	0.000000	0.000000	0.000000	0.000000	0.2	7223.93	.	chr14	104951031	.	G	A	7223.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.81;DP=559;ExcessHet=0;FS=3.464;MLEAC=2;MLEAF=0.2;MQ=59.81;MQRankSum=-0.183;QD=32.54;ReadPosRankSum=-1.53;SOR=0.567	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	4	1	0	1
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D,AHNAK2:NM_138420:exon7:c.G2475T:p.E825D	.	425	1066	31	0	0	31	0.0143319	.	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	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	1	0	0.016578	0.031250	0.019022	0.020661	0.000000	0.017241	0.009494	0.007692	0.08333	130.83	54	chr14	104952976	.	C	A	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.882;DP=1255;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=-18.83;QD=0.21;ReadPosRankSum=1.28;SOR=0.624	GT:AD:DP:GQ:PL	0/1:550,81:631:99:141,0,15351	5	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	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	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1667	4421.06	54	chr14	104953797	.	C	T	4421.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.573;DP=631;ExcessHet=0.4139;FS=1.759;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.38;SOR=0.589	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	4	0	2	0
chr14	104954103	104954103	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1048A:p.G350S,AHNAK2:NM_138420:exon7:c.G1348A:p.G450S	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0368878327033	.	0.000599042	0.0004	0	0	0.0050	0	0	0	0	0.0002975	46	154602	rs181990876	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0042	0.0039	0	0	0	0.0047	0	0	2.698e-06	8.284e-05	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.698e-05	0.0029	0.0024	0	0	0	0	0.0042	0	0	4.41e-05	0	0	0.278	0.15613	T	0.651	0.06713	T	0.782	0.44333	P	0.423	0.45170	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.27	0.02513	T	-1.23	0.31170	N	0.127	0.12055	-0.8900	0.48934	T	0.007	0.02244	T	9	0.0049704313	0.00107	T	0.036888	0.57273	D	0.063	0.18251	.	.	0.0138822411134	0.00435	0.2532600651871196	0.25240	.	.	0.209152787924	0.00776	T	0.020203	0.15948	T	-0.64371	0.00079	T	-0.694809	0.06113	T	0.0427771763415979	0.04196	T	0.369963	0.08710	T	0.023758192	0.01144	0.03326169	0.02192	0.023758192	0.01144	0.03326169	0.02192	-4.457	0.30322	T	.	.	0.124	0.26232	B	.	.	0.431660	0.08022	4.739	0.98934875358020669	0.48826	0.07922	0.13909	N	AEFBI	.	.	.	-0.896510028473421	0.10925	0.5245394	-0.997312660922517	0.09845	0.4922176	0.00228634654566724	0.09294	0.706548	0.73137	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.76	0.478	0.16000	-0.011000	0.12659	-1.335000	0.05687	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5131:0.1407:0.3463	5.658	0.16930	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	.	.	.	.	.	.	.	.	0.08333	922.83	54	chr14	104954103	.	C	T	922.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.82;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.061;SOR=0.656	GT:AD:DP:GQ:PL	0/1:38,35:73:99:933,0,1081	5	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	759.83	38	chr14	104994748	.	G	A	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=260;ExcessHet=0;FS=0.917;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.072;SOR=0.826	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	5	0	1	0
chr14	105384439	105384439	A	G	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001100913:exon17:c.A1867G:p.N623D,PACS2:NM_001243127:exon17:c.A1630G:p.N544D,PACS2:NM_015197:exon17:c.A1855G:p.N619D	.	406	1115	1	0	0	1	0.000448229	.	.	.	1487833	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0136879277412	.	.	2.705e-05	0	9.256e-05	0	0	3.269e-05	0	0	1.94e-05	3	154602	rs782192283	6.167e-06	6.156e-06	2.727e-06	9.641e-06	6.712e-05	2.9e-06	2.1e-06	1.78e-05	8.93e-06	0	6.712e-05	0	0	0	0	4.499e-06	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.28	0.15509	T	0.639	0.07617	T	0.459	0.36338	P	0.122	0.32387	B	0.008500	0.30815	N	0.364292	0.866946	0.35491	D	0.73	0.18813	N	1.09	0.39223	T	-1.26	0.32185	N	0.385	0.44283	-1.0316	0.19937	T	0.043	0.18326	T	10	0.19423854	0.35226	T	0.013688	0.33283	T	0.081	0.23632	0.528	0.63412	0.343804874344	0.33996	0.17998056246027572	0.17917	.	.	0.516947865486	0.41196	T	0.052532	0.29189	T	-0.420304	0.01703	T	-0.643871	0.09390	T	0.260347694158554	0.23330	T	0.886911	0.61435	D	0.095382415	0.22446	0.09587724	0.22758	0.095382415	0.22446	0.09587724	0.22757	-9.287	0.70542	D	0.08508765298003712	0.04764	0.144	0.41708	B	.;.;.;.	.;.;.;.	3.562651	0.50139	22.9	0.97690467039268603	0.35370	0.86942	0.46339	D	AEFBI	0.290254	0.40168	N	-0.383652048306168	0.26051	1.418832	-0.210759621954468	0.31148	1.760107	0.794980204088583	0.24083	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	3.183000	0.50619	5.871000	0.50535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.468000	0.28296	0.8256:0.0:0.0:0.1744	8.429	0.31905	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	658.83	34	chr14	105384439	.	A	G	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.3;DP=240;ExcessHet=0;FS=5.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.466;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	5	0	1	0
chr14	105493850	105493850	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134875:exon5:c.C601T:p.R201C,TEDC1:NM_001367178:exon5:c.C601T:p.R201C	.	428	1052	41	1	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0023	0.0081869	0.0063	0.0020	0.0033	0.0001	0.0016	0.0046	0.0104	0.0229	0.0054721	846	154602	rs118022421	0.0043	0.0043	0.0038	0.0049	0.0217	0.0042	0.0042	0.0208	0.0205	0.0020	0.0033	0.0048	0.0001	0.0014	0.0198	0.0032	0.0061	0.0217	0.0035	0.0035	0.0033	0.0037	0.0183	0.0033	0.0032	0.0152	0.0141	0.0017	0	0.0047	0.0066	0.0002	0.0017	0.0171	0.0036	0.0057	0.0183	0.059	0.45039	T	0.004	0.83351	D	0.999	0.77913	D	0.764	0.56591	P	0.064810	0.02182	N	2.001050	1	0.08975	N	.	.	.	.	.	.	-3.3	0.77143	D	0.165	0.29429	-1.0384	0.17802	T	0.081	0.31913	T	9	0.005352378	0.00117	T	.	.	.	0.072	0.21020	.	.	0.254761474806	0.25079	0.10644456044551831	0.10574	0.0186173050877	0.01812	.	.	.	0.057185	0.30495	T	-0.398785	0.02358	T	-0.329347	0.41542	T	0.022512283648584	0.00967	T	0.915408	0.70532	D	0.13811046	0.31954	0.08930856	0.20877	0.13811046	0.31954	0.08930856	0.20876	-5.798	0.44557	T	.	.	0.132	0.42806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.156229	0.27469	17.47	0.99686127378478306	0.79574	0.04473	0.10084	N	AEFBCI	0.102646	0.20585	N	-0.45759505220874	0.23484	1.261407	-0.687308798504235	0.17277	0.9179845	0.99958066070294	0.40607	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.37	0.148	0.14137	-0.558000	0.06069	0.043000	0.13895	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2255:0.5452:0.0:0.2293	2.895	0.05340	940	0.13648	Domain of unknown function DUF4509;Domain of unknown function DUF4509;Domain of unknown function DUF4509;.;Domain of unknown function DUF4509;.;.	.	.	.	.	.	Likely benign	0	0	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	0.023209	0.010309	0.017711	0.029240	0.050000	0.025862	0.024390	0.022727	0.08333	1682.83	34	chr14	105493850	.	C	T	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=327;ExcessHet=0;FS=1.324;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	5	0	1	0
chr14	105529694	105529694	C	T	exonic	TMEM121	.	nonsynonymous SNV	TMEM121:NM_001331238:exon2:c.C860T:p.P287L,TMEM121:NM_025268:exon2:c.C860T:p.P287L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.15544580431	.	.	5.615e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs781969647	1.435e-06	2.737e-06	1.419e-06	1.451e-06	1.843e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.843e-06	0	0	6.708e-06	6.573e-06	0	1.373e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.149	0.24758	T	0.273	0.22154	T	0.039	0.21116	B	0.023	0.19966	B	0.005511	0.32736	U	0.000000	1	0.08975	N	0	0.06538	N	.	.	.	0.0	0.07008	N	0.309	0.34874	-1.0458	0.15592	T	0.054	0.22883	T	9	0.08391923	0.14010	T	0.155446	0.83639	D	0.028	0.06331	0.184	0.09259	0.104622674875	0.10061	0.5500050222962688	0.54926	1.25776184724	0.81953	0.842736363411	0.88511	D	0.043868	0.26638	T	-0.210254	0.19342	T	-0.51952	0.20344	T	0.0840139908682058	0.10492	T	0.505449	0.15971	T	0.046537034	0.07804	0.057787098	0.10565	0.046537034	0.07803	0.057787098	0.10564	-4.454	0.30283	T	.	.	0.072	0.04356	B	.;.	.;.	1.993846	0.25335	16.72	0.95976789979660726	0.28346	0.08652	0.14551	N	AEFDBHCI	0.082152	0.16631	N	-0.860605885725915	0.11790	0.5709316	-0.809350206123155	0.14270	0.7447234	0.999999709833864	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.33	3.42	0.38259	0.725000	0.25638	2.919000	0.35553	0.596000	0.33519	0.000000	0.06391	0.906000	0.28050	0.617000	0.31819	0.0:0.6565:0.3435:0.0	11.735	0.51024	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	732.83	34	chr14	105529694	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.857;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	1	0
chr14	105529766	105529766	C	T	exonic	TMEM121	.	nonsynonymous SNV	TMEM121:NM_001331238:exon2:c.C932T:p.S311L,TMEM121:NM_025268:exon2:c.C932T:p.S311L	.	287	1233	2	0	0	2	0.000810373	.	.	.	2334516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.596439262707	.	0.000399361	0.0006	0	0	0	0	0.0030	0	0	0.0002329	36	154602	rs587624495	0.0014	0.0013	0.0014	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0003	0.0007	0.0012	0	0.0003	0.0008	0.0017	0.0011	7.08e-05	0.0011	0.0011	0.0012	0.0009	0.0017	0.0009	0.0009	0.0014	0.0013	0.0003	0.0088	0.0005	0.0017	0	0.0004	0	0.0017	0.0019	0.0002	0.004	0.65419	D	0.0	0.92824	D	0.953	0.54283	P	0.344	0.42549	B	0.003901	0.34365	U	0.201017	0.999964	0.52935	D	0.695	0.17993	N	.	.	.	-0.84	0.22944	N	0.413	0.45331	-1.0004	0.29803	T	0.075	0.30272	T	9	0.012311816	0.00265	T	0.596439	0.96432	D	0.034	0.08419	.	.	0.0611884634855	0.05136	0.39318523283500456	0.39233	2.03392677507	0.94150	0.880160331726	0.93983	D	0.070076	0.33869	T	-0.371183	0.03534	T	-0.346488	0.39606	T	0.0315193894942347	0.02229	T	0.665633	0.27494	T	0.12435349	0.29178	0.12196765	0.29425	0.12435349	0.29178	0.12196765	0.29424	-3.227	0.12813	T	.	.	0.115	0.24967	B	.;.	.;.	3.853231	0.55833	23.7	0.99838262192957161	0.91886	0.68837	0.33954	D	AEFDBHCJ	0.390687	0.46942	N	0.105875662381968	0.46736	2.909	0.147963346804954	0.47035	2.939825	0.999999998213333	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.33	3.36	0.37579	2.495000	0.44997	3.677000	0.39455	0.597000	0.34315	0.852000	0.30477	1.000000	0.68203	0.674000	0.33367	0.0:0.8278:0.1722:0.0	12.292	0.54142	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1064.83	67	chr14	105529766	.	C	T	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.221;DP=252;ExcessHet=0;FS=3.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.94;SOR=0.373	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	1	0
chr15	20534631	20534756	CTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	-	exonic	GOLGA6L6	.	nonframeshift deletion	GOLGA6L6:NM_001145004:exon8:c.1678_1803del:p.V560_K601del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.234e-05	0.0001	9.245e-05	7.173e-05	0.0002	6.734e-05	6.238e-05	0.0001	6.876e-05	0.0002	0.0002	8.45e-05	3.304e-05	0	0	7.716e-05	0.0001	7.691e-05	0.0006	0.0008	0.0007	0.0005	0.0014	0.0005	0.0005	0.0006	0.0005	0.0004	0.0029	0.0009	0	0.0014	0.0007	0	0.0006	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	46.84	73	chr15	20534630	.	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	T	46.84	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.56;DP=245;ExcessHet=0.5115;FS=1.601;MLEAC=1;MLEAF=0.1;MQ=52.62;MQRankSum=4.67;QD=0.41;ReadPosRankSum=-5.489;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	4	0	1	1
chr15	20534630	20534756	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	46.84	73	chr15	20534630	.	TCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTTTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACAC	*	46.84	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.56;DP=245;ExcessHet=0.5115;FS=1.601;MLEAC=1;MLEAF=0.1;MQ=52.62;MQRankSum=4.67;QD=0.41;ReadPosRankSum=-5.489;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	4	0	1	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	91.41	73	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	91.41	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.077;DP=243;ExcessHet=0.5115;FS=2.651;MLEAC=1;MLEAF=0.1;MQ=54.54;MQRankSum=0.7;QD=0.89;ReadPosRankSum=-1.936;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	4	0	1	1
chr15	20534664	20534675	CTCCCTTATCTT	0	exonic	GOLGA6L6	.	.	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	241.23	73	chr15	20534664	.	CTCCCTTATCTT	*	241.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.821;DP=212;ExcessHet=1.383;FS=2.345;MLEAC=2;MLEAF=0.167;MQ=55.17;MQRankSum=0.179;QD=2.04;ReadPosRankSum=-3.735;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:54:.:.:0,54,810:.	4	0	2	0
chr15	20534680	20534680	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	175.27	73	chr15	20534680	.	T	*	175.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.968;DP=194;ExcessHet=1.383;FS=2.387;MLEAC=2;MLEAF=0.167;MQ=55.12;MQRankSum=0.674;QD=1.51;ReadPosRankSum=-2.588;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:45:.:.:0,45,675:.	4	0	2	0
chr15	20535254	20535254	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C1180T:p.R394C	.	660	857	5	0	0	5	0.00290867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.0220	0	0	0	.	0.0340	0	0.0241	0.0001153	3	26028	rs753318256	0.0104	0.0097	0.0101	0.0106	0.0155	0.0102	0.0101	0.0121	0.0118	0.0017	0.0041	0.0167	3.058e-05	0.0093	0.0155	0.0113	0.0124	0.0129	0.0035	0.0039	0.0036	0.0035	0.0049	0.0032	0.0031	0.0043	0.0041	0.0010	0.0166	0.0018	0.0061	0	0.0042	0	0.0049	0.0036	0.0048	.	.	.	0.216	0.26226	T	.	.	.	.	.	.	.	.	.	.	0.98661	0.24600	N	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0302	0.20390	T	0.031	0.13286	T	7	0.0040552616	0.00079	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.0010305415930272075	0.00095	.	.	0.543417036533	0.44928	T	0.008543	0.07834	T	-0.216291	0.18501	T	-0.548463	0.17474	T	0.013754574758509	0.00258	T	0.370263	0.08727	T	0.063925505	0.13510	0.0942307	0.22294	0.063925505	0.13509	0.0942307	0.22294	-5.7	0.43694	T	.	.	0.213	0.44122	B	.	.	2.164793	0.27584	17.51	0.51490358097531141	0.04572	0.00860	0.03421	N	AEFI	0.042385	0.06571	N	-0.577418607764664	0.19632	1.028985	-0.848704842727349	0.13319	0.6902728	1.11164203910733E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.367000	0.07607	-3.333000	0.02868	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051020	0.000000	0.000000	0.142857	0.000000	0.000000	0.083333	0.083333	0.1	66.7	19	chr15	20535254	.	G	A	66.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=92;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=28.7;MQRankSum=-0.126;QD=13.34;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:45:.:.:0,45,499:.	4	0	1	1
chr15	20535459	20535459	-	ATCTTCTCCTCCTGCTCCCGT	exonic	GOLGA6L6	.	nonframeshift insertion	GOLGA6L6:NM_001145004:exon8:c.974_975insACGGGAGCAGGAGGAGAAGAT:p.K324_M325insIREQEEK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.981e-05	0.0002	2.889e-05	6.792e-05	0.0004	3.463e-05	2.942e-05	0.0001	7.75e-05	0	6.928e-05	0.0002	6.219e-05	0	0.0004	2.601e-05	0	0.0002	6.969e-06	6.625e-06	0	1.432e-05	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	111.79	19	chr15	20535459	.	C	CATCTTCTCCTCCTGCTCCCGT	111.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.912;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=32.37;MQRankSum=-1.28;QD=5.88;ReadPosRankSum=-1.356;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.3333	2439.96	33	chr15	20845872	.	T	C	2439.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.07;DP=1260;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=37.37;MQRankSum=-0.44;QD=2.08;ReadPosRankSum=0.277;SOR=0.788	GT:AD:DP:GQ:PL	0/1:306,65:371:99:683,0,7115	2	0	4	0
chr15	21410951	21410951	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon10:c.G1460A:p.G487E	.	1167	351	2	2	0	6	0.00847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00149846368984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201599781	3.94e-05	0.0049	5.465e-05	2.42e-05	0.0010	2.949e-05	2.589e-05	0.0005	0.0004	0.0010	0	6.538e-05	0	5.229e-05	0	3.139e-05	5.017e-05	1.542e-05	0.0003	0.0093	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0003	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0.0003	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.13723475	0.26107	T	0.001498	0.02318	T	.	.	.	.	0.21279746466	0.20884	0.012663733124182534	0.01225	.	.	0.758689165115	0.75735	T	0.018113	0.14658	T	-0.257661	0.13174	T	-0.607889	0.12158	T	.	.	.	0.689231	0.29860	T	0.04479156	0.07223	0.07305423	0.15832	0.04479156	0.07222	0.07305423	0.15832	-2.044	0.03351	T	.	.	0.102	0.18037	B	.	.	1.760732	0.22396	15.60	0.38208231936452719	0.02563	0.24951	0.22551	N	AEFI	0.060037	0.11384	N	.	.	.	.	.	.	1.21202139914897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.751	0.17541	3.206000	0.50800	0.673000	0.20610	0.284000	0.18682	0.994000	0.38300	0.001000	0.17328	0.003000	0.05239	0.0:0.7705:0.0:0.2295	4.253	0.10152	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	146.64	.	chr15	21410951	.	C	T	146.64	.	AC=2;AF=0.2;AN=10;DP=119;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=39.27;QD=28.6;SOR=3.258	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	4	1	0	1
chr15	21439909	21439909	A	G	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.T103C:p.C35R	.	408	1109	4	0	1	5	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00265986708043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200301581	0.0017	0.0040	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0005	0.0006	0.0003	0	0.0003	0.0005	0.0021	0.0016	0.0001	0.0014	0.0028	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0006	0	0.0005	0.0006	0	0.0002	0	0.0025	0.0005	0.0006	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.055375606	0.06041	T	0.00266	0.05434	T	.	.	.	.	0.394384168047	0.39052	0.0025569505950092174	0.00237	.	.	0.529879927635	0.43018	T	0.032381	0.22461	T	-0.117157	0.33589	T	-0.406064	0.32680	T	.	.	.	0.50225	0.15758	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-9.641	0.71734	D	.	.	0.117	0.23605	B	.	.	1.066504	0.14488	11.06	0.95980307381909613	0.28357	0.00158	0.00946	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.112000	0.10762	-0.078000	0.12213	0.256000	0.18359	0.007000	0.17678	0.000000	0.08366	0.054000	0.15518	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	552.7	36	chr15	21439909	.	A	G	552.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.894;DP=1394;ExcessHet=0;FS=7.123;MLEAC=1;MLEAF=0.1;MQ=48.68;MQRankSum=-4.862;QD=2.24;ReadPosRankSum=0.954;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,47:247:99:0|1:21439885_T_C:562,0,6710:21439885	4	0	1	1
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.75	3065.37	1	chr15	22081297	.	T	C	3065.37	.	AC=6;AF=0.75;AN=8;BaseQRankSum=4.73;DP=636;ExcessHet=0.2119;FS=43.298;MLEAC=7;MLEAF=0.875;MQ=47.14;MQRankSum=-7.298;QD=7.44;ReadPosRankSum=-0.342;SOR=2.907	GT:AD:DP:GQ:PL	1/1:1,44:45:99:1336,124,0	0	2	2	2
chr15	22495611	22495611	A	C	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.507e-06	6.674e-06	3.267e-06	1.111e-05	1.237e-05	2.2e-06	1.6e-06	4.62e-06	2.63e-06	0	0	0	0	0	0	1.237e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	128.29	20	chr15	22495611	.	A	C	128.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.501;DP=64;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=23.91;MQRankSum=-0.465;QD=12.83;ReadPosRankSum=0.21;SOR=0.223	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,411	5	0	1	0
chr15	22866742	22866742	-	ATG	exonic	NIPA2	.	nonframeshift insertion	NIPA2:NM_001008894:exon5:c.921_922insATG:p.M308_Y309insM,NIPA2:NM_001008892:exon6:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_001184888:exon6:c.921_922insATG:p.M308_Y309insM,NIPA2:NM_001008860:exon7:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_030922:exon8:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_001184889:exon10:c.978_979insATG:p.M327_Y328insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs772376136	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	723.79	38	chr15	22866742	.	T	TATG	723.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-0.068;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	5	0	1	0
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	75.77	20	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	75.77	.	AC=2;AF=0.2;AN=10;DP=61;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.1;QD=33.6;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:12:.:.:0,12,180:.	4	1	0	1
chr15	23358978	23358978	C	T	exonic	GOLGA8H	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013500930945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356930710	0.0002	0.0003	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0006	7.413e-05	0.0010	0	0.0003	3.336e-05	0.0014	0.0002	0.0003	0.0002	0.0003	0.0004	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0.0004	0	0	0	0	0.0002	0.0008	0	0.294	0.14793	T	0.294	0.20745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-0.49	0.15578	N	0.224	0.25130	.	.	.	.	.	.	.	0.086348146	0.14669	T	0.00135	0.01936	T	.	.	.	.	0.436993770938	0.43321	0.45534575445755304	0.45452	1.82565083264	0.92004	.	.	.	.	.	.	-0.361024	0.04072	T	-0.756362	0.03245	T	.	.	.	0.587441	0.21491	T	0.0132728815	0.00054	0.030171681	0.01440	0.0132728815	0.00054	0.030171681	0.01440	-2.363	0.04911	T	.	.	0.084	0.09627	B	.	.	0.194379	0.05799	2.242	0.72634542780843325	0.10042	0.03026	0.07907	N	AEFI	0.040788	0.06114	N	.	.	.	.	.	.	2.3385153619707E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.829	0.829	0.17984	0.288000	0.18695	0.551000	0.19421	-3.658000	0.00068	0.015000	0.19116	0.070000	0.22201	0.000000	0.00833	0.0:1.0:0.0:0.0	5.153	0.14350	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	150.84	26	chr15	23358978	.	C	T	150.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=84;ExcessHet=0;FS=5.167;MLEAC=1;MLEAF=0.083;MQ=24.85;MQRankSum=1.91;QD=8.87;ReadPosRankSum=-0.293;SOR=2.584	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,398	5	0	1	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.5	95	chr15	23361385	.	C	*	468.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.948;DP=430;ExcessHet=3.1439;FS=1.576;MLEAC=3;MLEAF=0.25;MQ=57.4;MQRankSum=0.836;QD=1.43;ReadPosRankSum=2.96;SOR=0.688	GT:AD:DP:GQ:PL	0/1:65,11:76:99:229,0,2606	3	0	3	0
chr15	23365010	23365010	A	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.A1115G:p.D372G	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000662240977894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176321652	2.582e-05	0.0001	2.085e-05	3.082e-05	0.0002	1.905e-05	1.663e-05	8.975e-05	7.122e-05	3.056e-05	6.729e-05	0	0	0	0	1.726e-05	1.679e-05	0.0002	2.09e-05	9.269e-05	1.357e-05	2.862e-05	0.0002	5.56e-06	2.54e-06	5.05e-06	1.89e-06	0	0	0	0	0	0	0	3.045e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.33	0.16492	T	3.56	0.00082	N	0.091	0.06990	.	.	.	.	.	.	.	0.032313883	0.01380	T	6.62E-4	0.00367	T	.	.	.	.	0.143124449307	0.13826	0.059838642585827904	0.05923	1.90002164035	0.92800	.	.	.	.	.	.	-0.548215	0.00299	T	-0.770203	0.02761	T	.	.	.	0.562644	0.19782	T	0.028636226	0.02232	0.04949176	0.07575	0.028636226	0.02232	0.04949176	0.07574	-2.927	0.09416	T	.	.	0.082	0.08705	B	.	.	-0.453414	0.02021	0.181	0.50470168568889551	0.04390	0.00064	0.00463	N	AEFI	0.013804	0.00197	N	.	.	.	.	.	.	1.37906141909221E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	-0.725	0.10610	-0.337000	0.07898	-0.724000	0.07692	-0.607000	0.04596	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2759:0.0:0.3898:0.3344	1.592	0.02496	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	495.83	46	chr15	23365010	.	A	G	495.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.28;MQRankSum=-4.31;QD=5.77;ReadPosRankSum=1.1;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1179:.	5	0	1	0
chr15	23365012	23365012	C	T	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.C1117T:p.P373S	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179412277746	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463577717	2.719e-05	0.0001	2.083e-05	3.361e-05	0.0002	2.036e-05	1.788e-05	8.973e-05	7.121e-05	3.054e-05	6.729e-05	0	0	0	0	1.907e-05	1.678e-05	0.0002	2.778e-05	7.937e-05	2.707e-05	2.852e-05	0.0002	8.49e-06	5.38e-06	1.21e-05	6.35e-06	0	0	0	0	0	0	0	4.557e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06	0.20523	T	0.37	0.03639	N	0.09	0.06854	.	.	.	.	.	.	.	0.056945115	0.06463	T	0.001794	0.03063	T	.	.	.	.	0.380052290102	0.37618	0.05029497142689372	0.04972	1.54876453167	0.87867	.	.	.	.	.	.	-0.55156	0.00285	T	-0.804352	0.01796	T	.	.	.	0.633437	0.24778	T	0.01556003	0.00145	0.044820786	0.05893	0.01556003	0.00145	0.044820786	0.05892	-3.329	0.14113	T	.	.	0.085	0.10352	B	.	.	-1.856590	0.00139	0.002	0.7386747109350027	0.10484	0.01384	0.04710	N	AEFI	0.026337	0.01958	N	.	.	.	.	.	.	1.70410768220176E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	0.005000	0.13029	-5.780000	0.01599	-1.763000	0.00674	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.110	0.14136	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	495.83	46	chr15	23365012	.	C	T	495.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.143;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.42;MQRankSum=-4.31;QD=5.77;ReadPosRankSum=1.21;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1179:.	5	0	1	0
chr15	23365016	23365016	T	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.T1121C:p.L374P	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00290460754035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400890992	2.718e-05	0.0001	2.082e-05	3.359e-05	0.0002	2.035e-05	1.787e-05	8.974e-05	7.121e-05	3.054e-05	6.729e-05	0	0	0	0	1.906e-05	1.678e-05	0.0002	3.476e-05	7.28e-05	4.067e-05	2.854e-05	0.0002	1.316e-05	8.38e-06	2.019e-05	1.156e-05	0	0	0	0	0	0	0	6.081e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.21	0.18414	T	4.96	0.00024	N	0.085	0.06190	.	.	.	.	.	.	.	0.034254014	0.01627	T	0.002905	0.06133	T	.	.	.	.	0.0762999501168	0.06990	0.029303370463439102	0.02879	2.21200435668	0.95776	.	.	.	.	.	.	-0.463754	0.00931	T	-0.702204	0.05706	T	.	.	.	0.339066	0.07293	T	0.039942626	0.05608	0.057110004	0.10324	0.039942626	0.05608	0.057110004	0.10324	-2.912	0.09264	T	.	.	0.060	0.00949	B	.	.	-0.520936	0.01801	0.140	0.50986736061785176	0.04481	0.00025	0.00253	N	AEFI	0.015934	0.00328	N	.	.	.	.	.	.	9.89163602233636E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	-1.36	0.08610	-0.837000	0.04485	-0.164000	0.11293	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2416:0.2975:0.2412:0.2196	0.299	0.00251	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	492.83	46	chr15	23365016	.	T	C	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.74;MQRankSum=-4.345;QD=5.66;ReadPosRankSum=1.07;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1179:.	5	0	1	0
chr15	23365019	23365019	T	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.T1124A:p.L375H	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000679095384675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444296458	2.857e-05	0.0001	2.498e-05	3.219e-05	0.0002	2.125e-05	1.913e-05	0.0001	9.546e-05	0	8.969e-05	0	0	0	0	1.815e-05	1.677e-05	0.0002	2.775e-05	6.615e-05	2.705e-05	2.848e-05	0.0002	8.48e-06	5.37e-06	1.209e-05	6.35e-06	0	0	0	0	0	0	0	4.553e-05	0	0.0002	0.31	0.14017	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	4.11	0.00050	N	0.12	0.11054	.	.	.	.	.	.	.	0.048632294	0.04339	T	6.79E-4	0.00400	T	.	.	.	.	0.239305524855	0.23518	0.04682125552559315	0.04625	1.86795582778	0.92482	.	.	.	.	.	.	-0.438875	0.01313	T	-0.671888	0.07488	T	.	.	.	0.0412959	0.00289	T	0.03775245	0.04900	0.051814906	0.08414	0.03775245	0.04900	0.051814906	0.08414	-5.182	0.38758	T	.	.	0.074	0.04889	B	.	.	-1.099702	0.00641	0.017	0.6339925726820218	0.07214	0.00475	0.02270	N	AEFI	0.022321	0.01102	N	.	.	.	.	.	.	1.43711362299522E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	-0.185000	0.09679	-0.900000	0.06995	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6645:0.0:0.3355	3.159	0.06122	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	498.83	46	chr15	23365019	.	T	A	498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.195;DP=268;ExcessHet=0;FS=1.016;MLEAC=1;MLEAF=0.083;MQ=38.99;MQRankSum=-4.439;QD=5.87;ReadPosRankSum=0.852;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1179:.	5	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:0,71:117:99:4353,1531,1637	1	0	5	0
chr15	23647105	23647134	GGAGGATGAGCCATCGGTGTCCCCGGAGGG	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.609_638del:p.H221_A230del	Schaaf-Yang syndrome, Autosomal dominant	2	1505	6	0	9	15	0.00198939	.	.	.	2092358	Inborn_genetic_diseases|Schaaf-Yang_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs758291032	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0002	0.0013	0.0010	0.0004	0.0005	0.0010	0.0004	0	0.0023	0.0002	0.0007	0.0008	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0005	0.0006	0.0005	0.0008	0	0.0010	0.0026	0.0011	0	0.0055	0.0005	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	480.79	35	chr15	23647104	.	TGGAGGATGAGCCATCGGTGTCCCCGGAGGG	T	480.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.72;MQRankSum=-1.212;QD=12.33;ReadPosRankSum=1.7;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,101,1476:.	5	0	1	0
chr15	25370988	25370988	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1009A:p.E337K,UBE3A:NM_001354548:exon4:c.G1126A:p.E376K,UBE3A:NM_001354549:exon4:c.G1126A:p.E376K,UBE3A:NM_130838:exon4:c.G1126A:p.E376K,UBE3A:NM_001354542:exon5:c.G1126A:p.E376K,UBE3A:NM_001354505:exon6:c.G1186A:p.E396K,UBE3A:NM_001354545:exon6:c.G1186A:p.E396K,UBE3A:NM_001374461:exon6:c.G1126A:p.E376K,UBE3A:NM_130839:exon6:c.G1186A:p.E396K,UBE3A:NM_000462:exon7:c.G1195A:p.E399K,UBE3A:NM_001354508:exon7:c.G1126A:p.E376K,UBE3A:NM_001354511:exon7:c.G1126A:p.E376K,UBE3A:NM_001354512:exon7:c.G1126A:p.E376K,UBE3A:NM_001354513:exon7:c.G1126A:p.E376K,UBE3A:NM_001354523:exon7:c.G1126A:p.E376K,UBE3A:NM_001354538:exon7:c.G1186A:p.E396K,UBE3A:NM_001354539:exon7:c.G1126A:p.E376K,UBE3A:NM_001354547:exon7:c.G1126A:p.E376K,UBE3A:NM_001354506:exon8:c.G1126A:p.E376K,UBE3A:NM_001354507:exon8:c.G1126A:p.E376K,UBE3A:NM_001354509:exon8:c.G1126A:p.E376K,UBE3A:NM_001354526:exon8:c.G1126A:p.E376K,UBE3A:NM_001354541:exon8:c.G1126A:p.E376K,UBE3A:NM_001354544:exon8:c.G1126A:p.E376K,UBE3A:NM_001354540:exon9:c.G1126A:p.E376K,UBE3A:NM_001354543:exon10:c.G1126A:p.E376K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0632156903374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.798	0.04168	T	0.95	0.53885	P	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.84	0.74265	T	-0.79	0.21860	N	0.662	0.74826	-0.6074	0.64511	T	0.342	0.70794	T	10	0.42258328	0.56963	T	0.063216	0.68897	D	0.340	0.66202	0.449	0.50957	0.402881280848	0.39899	0.5371458093378796	0.53639	1.09038453896	0.77410	0.666752576828	0.62375	T	0.127811	0.45507	T	0.142979	0.68608	D	-0.0323968	0.68209	D	0.603581189142381	0.36543	D	0.978702	0.92791	D	0.24791744	0.47774	0.28203094	0.54188	0.24791744	0.47773	0.28203094	0.54187	-5.505	0.42965	T	.	.	0.343	0.56651	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.170511	0.62707	24.5	0.9956762370448623	0.72197	0.99019	0.90044	D	AEFGBI	0.877092	0.80151	D	0.171195768447697	0.49820	3.178202	0.332471228125121	0.57457	3.911528	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	46.84	58	chr15	25370988	.	C	T	46.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.612;DP=372;ExcessHet=0;FS=68.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=0.868;SOR=5.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:54:.:.:0,54,1574:.	5	0	1	0
chr15	27326875	27326875	A	G	exonic	GABRG3	.	nonsynonymous SNV	GABRG3:NM_001270873:exon4:c.A337G:p.M113V,GABRG3:NM_033223:exon4:c.A337G:p.M113V	.	403	1111	8	0	0	8	0.00358744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0441808054022	.	0.000599042	6.624e-05	0	8.639e-05	0	0	2.997e-05	0	0.0003	7.12e-05	11	154602	rs76012018	4.721e-05	4.72e-05	2.723e-05	6.739e-05	0.0007	3.794e-05	3.476e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0007	1.889e-05	6.625e-05	0.0005	2.626e-05	2.625e-05	0	5.373e-05	6.537e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.405e-05	0	6.537e-05	0	0	0	0	2.94e-05	0	0	0.024	0.47745	D	0.345	0.44501	T	0.447	0.36006	B	0.285	0.40506	B	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	1.69	0.43327	L	-1.09	0.77206	T	-1.48	0.36189	N	0.482	0.53006	-0.5442	0.67005	T	0.349	0.71313	T	10	0.15981406	0.30019	T	0.044181	0.61363	D	0.411	0.72252	.	.	0.883708047798	0.88257	0.5217847299223344	0.52101	.	.	0.801367282867	0.82171	T	0.113196	0.43004	T	-0.000277945	0.51616	T	0.0779803	0.75443	D	0.100215079200617	0.12381	T	0.857914	0.54939	D	0.509527	0.67652	0.4381643	0.67211	0.509527	0.67653	0.4381643	0.67211	-7.554	0.70728	D	.	.	0.134	0.29615	B	.;.;.	.;.;.	3.985520	0.58615	24.0	0.9862173629024219	0.43785	0.97534	0.75377	D	AEFBI	0.878891	0.80444	D	0.159126559635231	0.49243	3.127039	0.313913423628776	0.56357	3.79888	0.999930501818005	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.207000	0.77409	9.152000	0.78953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.306	0.73701	986	0.02773	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1536.83	33	chr15	27326875	.	A	G	1536.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=273;ExcessHet=0;FS=1.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.011;SOR=0.975	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	5	0	1	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1667	2284.06	101	chr15	28257189	.	T	C	2284.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.613;DP=330;ExcessHet=0.4139;FS=1.157;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.84;SOR=0.813	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1237	4	0	2	0
chr15	28354856	28354856	T	A	exonic	LOC100132202;LOC645202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon5:c.A336T:p.Q112H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	.	0.0007	0.0024	0.0004	0	0	0.0007	0	0.0004	0.008683	226	26028	rs78441157	0.0001	0.0007	6.58e-05	0.0001	0.0011	8.707e-05	8.192e-05	0.0008	0.0007	2.993e-05	8.993e-05	0.0002	0	0.0002	0.0011	2.885e-05	0.0001	0.0009	0.0005	0.0037	0.0004	0.0005	0.0011	0.0004	0.0003	0.0007	0.0006	0.0003	0	0.0011	0.0018	0	9.546e-05	0	0.0004	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	233.03	8	chr15	28354856	.	T	A	233.03	.	AC=2;AF=0.167;AN=12;DP=378;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=29;QD=29.13;SOR=4.407	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	1	0	0
chr15	28357951	28357951	G	C	exonic;splicing	LOC645202;LOC100132202	NM_001365373:exon1:c.78+1C>G	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs761560411	0.0100	0.0022	0.0113	0.0089	0.0421	0.0093	0.0091	0.0375	0.0357	0.0421	0.0084	0.0004	0.0065	0.0189	0.0088	0.0047	0.0132	0.0024	0.0317	0.0086	0.0346	0.0285	0.0363	0.0269	0.0250	0.0305	0.0284	0.0363	.	0.0067	0	0	0.0282	0	0.0044	0.0357	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	48.88	.	chr15	28357951	.	G	C	48.88	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=27;MQRankSum=0;QD=16.29;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,14	3	0	1	2
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	48.03	11	chr15	28842754	.	C	T	48.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.875;DP=27;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.083;MQ=46.77;MQRankSum=1.34;QD=4.37;ReadPosRankSum=-1.231;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,31:.	5	0	1	0
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	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	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.08333	596.83	39	chr15	29124687	.	C	G	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.241;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.019;SOR=0.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	5	0	1	0
chr15	30084797	30084797	C	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon2:c.C75A:p.S25R	.	570	947	5	0	0	5	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0096	0	0	0	0	0.0088	0.0294	0.0166	0.0004075	63	154602	rs201313387	0.0006	0.0007	0.0005	0.0007	0.0034	0.0006	0.0006	0.0030	0.0029	0	0.0002	0.0130	2.95e-05	0	0.0029	0.0001	0.0014	0.0034	0.0006	0.0007	0.0006	0.0006	0.0036	0.0005	0.0004	0.0019	0.0014	0	0	0.0002	0.0111	0	0	0	0.0003	0.0008	0.0036	0.132	0.26519	T	0.083	0.41405	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999129	0.46125	D	1.595	0.40691	L	2.51	0.14284	T	-2.69	0.57435	D	0.326	0.36674	.	.	.	.	.	.	.	0.0066145062	0.00150	T	.	.	.	.	.	.	.	0.367229591828	0.36328	0.381946223394327	0.38109	1.45917888074	0.86306	.	.	.	0.070378	0.33944	T	-0.457125	0.01024	T	-0.586988	0.13927	T	.	.	.	.	.	.	0.10323624	0.24400	0.14533953	0.34472	0.10323624	0.24400	0.14533953	0.34471	-7.63	0.58520	D	.	.	0.183	0.39647	B	.	.	-0.080301	0.03761	0.784	0.81275159349733839	0.13605	0.02693	0.07333	N	AEFI	0.035173	0.04481	N	.	.	.	.	.	.	5.07277764287856E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.49	1.49	0.21966	-0.754000	0.04892	-1.869000	0.04581	0.213000	0.18003	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	6.460	0.21148	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	649.75	20	chr15	30084797	.	C	A	649.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.713;DP=142;ExcessHet=0;FS=3.827;MLEAC=1;MLEAF=0.1;MQ=37.42;MQRankSum=-1.139;QD=15.47;ReadPosRankSum=0.479;SOR=0.202	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,689	4	0	1	1
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.83	33	chr15	30089817	.	G	A	104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.643;DP=201;ExcessHet=0;FS=9.89;MLEAC=1;MLEAF=0.083;MQ=30.62;MQRankSum=-1.133;QD=7.49;ReadPosRankSum=-1.017;SOR=2.217	GT:AD:DP:GQ:PL	0/0:50,0:50:36:0,36,1414	5	0	1	0
chr15	30091599	30091599	-	C	exonic	GOLGA8J	.	frameshift insertion	GOLGA8J:NM_001282472:exon14:c.1266dupC:p.G424Wfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	910.79	29	chr15	30091599	.	T	TC	910.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.413;DP=179;ExcessHet=0;FS=3.986;MLEAC=1;MLEAF=0.083;MQ=36.96;MQRankSum=-0.049;QD=22.77;ReadPosRankSum=2.03;SOR=0.18	GT:AD:DP:GQ:PL	0/1:9,31:40:99:921,0,190	5	0	1	0
chr15	30093173	30093173	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.T1657C:p.S553P	.	155	1357	10	0	0	10	0.00367107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00121525788431	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200195856	0.0002	0.0007	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0004	0.0002	0.0002	0.0006	0.0002	0.0005	0.0001	0.0002	0.0005	0.0006	0.0021	0.0006	0.0005	0.0011	0.0005	0.0004	0.0004	0.0004	0.0004	0	0.0006	0.0006	0.0011	0.0006	0	0.0006	0.0010	0.0009	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.7	0.00032	N	2.12	0.19726	T	4.86	0.00026	N	0.123	0.11483	-0.9684	0.37530	T	0.015	0.05946	T	6	0.02580288	0.00763	T	0.001215	0.01583	T	.	.	.	.	0.0401082797425	0.02173	0.1795603255725934	0.17875	1.60696827796	0.88818	.	.	.	0.002467	0.01855	T	-0.350049	0.04724	T	-0.740598	0.03866	T	0.034453742032627	0.02714	T	.	.	.	0.0440634	0.06977	0.062303003	0.12166	0.0440634	0.06977	0.062303003	0.12166	-2.956	0.09715	T	.	.	0.044	0.00036	B	.	.	-0.048893	0.03957	0.886	0.23489921705929645	0.00995	0.00013	0.00170	N	AEFI	0.012405	0.00135	N	-1.2329140063075	0.04530	0.2046269	-1.40894494982791	0.03162	0.1469507	1.7484122585101E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	0.429	0.15721	0.455000	0.21555	-0.908000	0.06966	-2.424000	0.00287	0.837000	0.30238	0.000000	0.08366	0.000000	0.00833	0.2984:0.497:0.0:0.2046	2.193	0.03665	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	31.83	35	chr15	30093173	.	T	C	31.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=229;ExcessHet=0;FS=16.723;MLEAC=1;MLEAF=0.083;MQ=34.55;MQRankSum=-3.608;QD=0.48;ReadPosRankSum=-1.232;SOR=3.952	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	5	0	1	0
chr15	30136951	30136951	A	C	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon2:c.A134C:p.K45T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159893974984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490309550	8.616e-05	6.462e-05	6.765e-05	0.0001	0.0004	6.88e-05	6.355e-05	0.0001	9.126e-05	0	0.0002	0.0011	3.086e-05	0	0.0004	5.096e-05	0.0001	0.0002	4.211e-05	6.622e-05	2.721e-05	5.797e-05	7.102e-05	1.812e-05	1.193e-05	1.212e-05	6.36e-06	0	0	7.102e-05	0.0006	0	0	0	4.567e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.43	0.05440	T	2.72	0.00186	N	0.06	0.03175	.	.	.	.	.	.	.	0.025850773	0.00767	T	0.001599	0.02574	T	.	.	.	.	0.043077524339	0.03247	0.11779065345018258	0.11706	2.01726381762	0.93962	.	.	.	.	.	.	-0.414508	0.01856	T	-0.833189	0.01207	T	.	.	.	.	.	.	0.026220737	0.01653	0.03355243	0.02268	0.026220737	0.01653	0.03355243	0.02268	-2.18	0.03944	T	.	.	0.033	0.00002	B	.	.	-0.474651	0.01950	0.167	0.4192044662201701	0.03056	0.00060	0.00440	N	AEFI	0.011009	0.00089	N	.	.	.	.	.	.	1.16629668865413E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.48	0.403	0.15569	-0.308000	0.08196	-1.113000	0.06292	-1.422000	0.01124	0.057000	0.21666	0.000000	0.08366	0.004000	0.06068	0.2739:0.4206:0.3056:0.0	3.425	0.06976	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	198.83	38	chr15	30136951	.	A	C	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.603;DP=224;ExcessHet=0;FS=4.739;MLEAC=1;MLEAF=0.083;MQ=30.47;MQRankSum=-2.698;QD=3.43;ReadPosRankSum=-0.121;SOR=0.487	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1485	5	0	1	0
chr15	30522472	30522472	G	A	exonic	LOC100996413	.	nonsynonymous SNV	LOC100996413:NM_001365376:exon2:c.C571T:p.R191W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs560631256	0.0001	0.0001	0.0001	9.179e-05	0.0006	8.515e-05	7.844e-05	8.385e-05	7.754e-05	0	0	0	0	0	0.0006	0.0001	0.0002	6.133e-05	0.0001	0.0002	8.259e-05	0.0002	0.0006	8.085e-05	6.7e-05	0.0002	8.462e-05	0.0002	0	6.729e-05	0	0.0006	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	157.39	5	chr15	30522472	.	G	A	157.39	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=55.62;QD=31.48;SOR=1.022	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	3
chr15	30557784	30557784	G	A	exonic	GOLGA8Q	.	nonsynonymous SNV	GOLGA8Q:NM_001355476:exon9:c.G625A:p.E209K	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000416327322425	.	.	0.0016	0	0	0	0	0	0	0.0025	0.0001164	18	154602	rs769757416	0.0002	0.0003	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.055e-05	0	0	7.588e-05	0	0.0002	1.725e-05	0.0002	0.0028	0.0001	0.0002	3.904e-05	0.0002	0.0027	6.597e-05	5.392e-05	0.0016	0.0013	2.483e-05	0	0	0	0	0	0	2.962e-05	0	0.0027	0.346	0.12469	T	0.281	0.21612	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94	0.22678	T	0.85	0.01736	N	0.079	0.05414	.	.	.	.	.	.	.	0.008328617	0.00189	T	4.16E-4	0.00078	T	.	.	.	.	0.0138822411134	0.00435	0.243965938943695	0.24310	0.321520750167	0.34353	.	.	.	.	.	.	-0.647613	0.00075	T	-0.709812	0.05305	T	.	.	.	0.529347	0.17530	T	0.026030997	0.01609	0.055281717	0.09668	0.026030997	0.01608	0.055281717	0.09668	-3.355	0.14457	T	.	.	0.072	0.04119	B	.	.	-0.060563	0.03882	0.847	0.38354982934906579	0.02582	0.01153	0.04166	N	AEFI	0.034106	0.04165	N	.	.	.	.	.	.	0.0169153975057417	0.12889	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.77	-1.54	0.08130	-0.046000	0.11937	-6.332000	0.01428	-4.345000	0.00032	0.973000	0.34540	0.000000	0.08366	0.000000	0.00833	0.2057:0.3997:0.3947:0.0	5.037	0.13778	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	460.83	42	chr15	30557784	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=357;ExcessHet=0;FS=3.423;MLEAC=1;MLEAF=0.083;MQ=30.11;MQRankSum=-0.463;QD=2.65;ReadPosRankSum=0.273;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1324	5	0	1	0
chr15	30905792	30905792	C	T	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon2:c.C1129T:p.R377W,FAN1:NM_001146095:exon2:c.C1129T:p.R377W,FAN1:NM_001146096:exon2:c.C1129T:p.R377W,FAN1:NM_014967:exon2:c.C1129T:p.R377W	Interstitial nephritis, karyomegalic, Autosomal recessive	7	1507	8	0	0	8	0.00264725	.	.	.	725979	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0285741485791	0.0056	0.00139776	0.0042	0.0007	0.0009	0	0.0053	0.0066	0.0011	0.0008	0.004476	692	154602	rs151322829	0.0062	0.0062	0.0062	0.0061	0.0073	0.0060	0.0060	0.0072	0.0071	0.0014	0.0013	0.0020	0	0.0057	0.0005	0.0073	0.0048	0.0010	0.0045	0.0045	0.0046	0.0043	0.0071	0.0042	0.0041	0.0066	0.0064	0.0012	0.0407	0.0014	0.0012	0	0.0068	0	0.0071	0.0033	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.962	0.55554	D	0.287	0.40572	B	0.005562	0.32687	N	0.329396	0.993408	0.41929	D	2.78	0.81115	M	1.0	0.41392	T	-4.71	0.80425	D	0.497	0.54932	-0.8399	0.52653	T	0.078	0.31012	T	10	0.008988917	0.00203	T	0.028574	0.51232	D	0.194	0.47447	.	.	0.30212335484	0.29822	0.4591243335198023	0.45830	0.112379335131	0.12682	0.205271482468	0.00626	T	0.107639	0.42000	T	-0.367654	0.03714	T	-0.294063	0.45347	T	0.0949581100940725	0.11794	T	0.861414	0.55526	D	0.60826874	0.73135	0.43271166	0.66847	0.48007107	0.65905	0.49555796	0.70828	-8.662	0.71344	D	.	.	0.143	0.42834	B	.;.;.;.	.;.;.;.	2.847916	0.37588	20.5	0.99690156973208865	0.79842	0.46029	0.27669	N	AEFGBCI	0.332001	0.43155	N	-0.36118847058042	0.26863	1.469402	-0.480403557968031	0.22693	1.233904	0.999987647009376	0.51787	0.626454	0.40138	0	0.627608	0.54475	0	0.643519	0.47002	0	0.633917	0.49826	0	.	.	5.99	-1.21	0.09033	0.469000	0.21779	0.708000	0.20910	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.5877:0.3539:0.0:0.0583	11.987	0.52446	867	0.32089	.;.;.;.	.	.	.	.	rs151322829	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1877.83	33	chr15	30905792	.	C	T	1877.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.484;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.598;SOR=0.689	GT:AD:DP:GQ:PL	0/1:65,76:141:99:1888,0,1475	5	0	1	0
chr15	30922295	30922295	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_014967:exon8:c.G2113A:p.G705S	Interstitial nephritis, karyomegalic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.321621443744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.048871	1	0.81001	D	3.7	0.94612	H	-5.17	0.98809	D	-5.57	0.86372	D	0.904	0.90476	1.085	0.99049	D	0.973	0.99158	D	10	0.8966595	0.89021	D	0.321621	0.91491	D	0.875	0.96280	0.54	0.65161	0.866472051514	0.86517	0.7456934876750481	0.74515	0.497085312296	0.48199	0.755623817444	0.75279	T	0.349066	0.71697	T	0.530163	0.95171	D	0.523766	0.95099	D	0.997688293457031	0.92162	D	0.922708	0.71908	D	0.9262143	0.93859	0.81447786	0.89185	0.9262143	0.93860	0.81447786	0.89186	-13.006	0.89389	D	.	.	0.725	0.73996	P	.	.	5.199537	0.87222	29.2	0.99882222981789615	0.95813	0.97882	0.77839	D	AEFDGBCI	0.898326	0.84149	D	0.894148679686995	0.91470	10.90001	0.830750540504256	0.91843	11.09753	0.999999999999362	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.504199	0.09095	0	0.678554	0.66404	0	.	.	5.7	4.79	0.60909	9.999000	0.99362	9.832000	0.81868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0696:0.0:0.9304:0.0	14.676	0.68592	830	0.39242	.	.	.	.	.	.	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	852.83	37	chr15	30922295	.	G	A	852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.57;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.02;SOR=0.676	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1036	5	0	1	0
chr15	32158451	32158451	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon7:c.G638A:p.C213Y,CHRNA7:NM_001190455:exon7:c.G725A:p.C242Y	Schizophrenia, neurophysiologic defect in	1	1513	8	0	0	8	0.00263678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.14326958586	.	0.000199681	0.0002	0	0.0003	0	0	7.492e-05	0.0011	0.0012	3.84e-05	1	26028	rs200236230	0.0001	0.0002	9.258e-05	0.0002	0.0016	0.0001	0.0001	0.0011	0.0011	0	0.0002	0	0	0	0.0016	4.677e-05	0.0002	0.0013	4.599e-05	7.873e-05	5.141e-05	4.032e-05	0.0004	2.109e-05	1.527e-05	7.321e-05	3.04e-05	0	0	6.539e-05	0	0.0002	0	0.0034	2.94e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	-1.15	0.77964	T	-10.19	0.99014	D	0.969	0.97961	0.632	0.92312	D	0.706	0.89878	D	10	0.7818934	0.77923	D	0.14327	0.82560	D	0.907	0.97474	0.838	0.94479	0.884513965206	0.88337	0.9384024244952771	0.93821	.	.	0.871368587017	0.92764	D	0.885243	0.97625	D	0.129267	0.67290	D	0.377529	0.91345	D	0.453825771056193	0.30938	T	0.911409	0.68582	D	0.96451247	0.97731	0.93054396	0.97132	0.96451247	0.97731	0.93054396	0.97133	-19.038	0.99825	D	.	.	0.992	0.97755	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.702837	0.93125	33	0.99790057126457987	0.87572	0.98666	0.85331	D	AEFGI	0.935151	0.92957	D	0.945991301625209	0.93824	12.303	0.850334316163072	0.93036	11.784	0.999875949705081	0.44625	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.51	4.51	0.54589	9.478000	0.96869	11.732000	0.95017	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.112	0.72042	963	0.08280	Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002680	0.000000	0.001366	0.004132	0.000000	0.008621	0.000000	0.003817	0.08333	816.83	46	chr15	32158451	.	G	A	816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=492;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.083;MQ=39.4;MQRankSum=-2.533;QD=3.22;ReadPosRankSum=0.929;SOR=0.798	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,104,1790	5	0	1	0
chr15	32394147	32394147	T	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.A1363G:p.M455V	.	503	995	21	3	0	27	0.0133862	0.0069	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00698882	0.0164	0.0077	0.0191	0	0.0140	0.0217	0.0162	0.0136	0.0013447	35	26028	rs201364836	0.0032	0.0071	0.0031	0.0034	0.0059	0.0031	0.0031	0.0050	0.0047	0.0059	0.0020	0.0010	7.269e-05	0.0034	0.0041	0.0033	0.0028	0.0045	0.0029	0.0046	0.0030	0.0029	0.0050	0.0026	0.0025	0.0041	0.0038	0.0050	0	0.0011	0.0018	0	0.0021	0	0.0028	0.0020	0.0031	.	.	.	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.999973	0.18612	N	.	.	.	.	.	.	.	.	.	0.317	0.35727	-1.0173	0.24592	T	0.048	0.20553	T	5	0.007897466	0.00179	T	.	.	.	0.033	0.08068	.	.	0.119812018005	0.11559	0.39501364062276695	0.39416	1.93239836197	0.93153	.	.	.	.	.	.	-0.54465	0.00314	T	-0.547595	0.17557	T	0.0171244791083947	0.00458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	1.013339	0.13924	10.48	0.72283640021614892	0.09919	0.58944	0.30779	D	AEFI	0.193844	0.32095	N	0.0343045522413628	0.43421	2.635398	-0.349025092461371	0.26539	1.46656	3.94332910653515E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	1.336000	0.33455	-0.262000	0.10418	0.215000	0.18024	1.000000	0.71638	0.340000	0.24418	0.126000	0.19410	0.0:0.2654:0.3053:0.4292	4.048	0.09262	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	.	.	.	.	.	.	.	.	0.08333	46.95	3	chr15	32394147	.	T	C	46.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=83;ExcessHet=0;FS=2.086;MLEAC=1;MLEAF=0.083;MQ=44.76;MQRankSum=-1.681;QD=2.35;ReadPosRankSum=-2.129;SOR=1.27	GT:AD:DP:GQ:PL	0/0:23,0:23:69:0,69,821	5	0	1	0
chr15	32394208	32394208	C	G	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.G1302C:p.E434D	.	436	1057	28	1	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00958466	0.0171	0.0063	0.0093	0.0006	0.0208	0.0222	0.0161	0.0152	0.0116881	1807	154602	rs186020429	0.0012	0.0042	0.0011	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0016	0.0007	0.0007	0.0001	0.0027	0.0014	0.0011	0.0014	0.0019	0.0019	0.0036	0.0019	0.0020	0.0027	0.0017	0.0017	0.0023	0.0021	0.0027	0	0.0004	0.0010	0.0003	0.0018	0	0.0020	0.0017	0.0022	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-1.0259	0.21788	T	0.034	0.14464	T	5	0.004268825	0.00085	T	.	.	.	0.013	0.01715	.	.	.	.	0.08551605836197455	0.08485	0.019005573398	0.01855	.	.	.	.	.	.	-0.641994	0.00081	T	-0.68133	0.06902	T	0.00542060920511947	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.	.	1.554518	0.19917	14.50	0.85348933866344978	0.15837	0.02889	0.07675	N	AEFI	0.085265	0.17283	N	-0.752977063059062	0.14552	0.7258756	-0.954551780017152	0.10818	0.5473082	1.15102790662991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	0.664	0.17060	0.783000	0.26463	0.228000	0.16155	0.176000	0.17782	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3154:0.4628:0.0:0.2218	1.964	0.03186	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	.	.	.	.	.	.	.	.	0.08333	146.84	7	chr15	32394208	.	C	G	146.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.379;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.72;MQRankSum=-3.136;QD=5.44;ReadPosRankSum=0.263;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1298:.	5	0	1	0
chr15	32968972	32968972	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon4:c.C2060T:p.P687L,FMN1:NM_001277313:exon8:c.C2729T:p.P910L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.141578258586	8.3e-05	.	0.0001	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs202010312	2.35e-05	2.995e-05	2.27e-05	2.426e-05	1.749e-05	1.502e-05	1.211e-05	7.45e-06	5.4e-06	0	0	0.0005	0	0	0	1.584e-05	2.632e-05	1.749e-05	1.982e-05	1.971e-05	1.29e-05	2.708e-05	0.0001	5.27e-06	2.46e-06	2.275e-05	9.13e-06	0	0	0.0001	0.0003	0	0	0	0	0	0	0.055	0.38407	T	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	.	.	.	2.47	0.71715	M	0.35	0.58897	T	-3.77	0.74427	D	0.448	0.49511	-0.6954	0.60656	T	0.217	0.57863	T	9	0.1801469	0.33184	T	0.141578	0.82399	D	0.231	0.53208	.	.	0.679926417079	0.67720	0.28556736648217795	0.28469	0.0224054033898	0.02255	0.717831254005	0.69731	T	0.489555	0.81472	T	-0.0569868	0.43376	T	-0.319634	0.42616	T	0.567609698122495	0.35143	D	.	.	.	0.15420048	0.34914	0.19781378	0.43582	0.15420048	0.34914	0.19781378	0.43581	-5.863	0.48722	T	.	.	0.095	0.21049	B	.;.;.;.	.;.;.;.	2.250397	0.28748	17.90	0.9872544244867798	0.45274	0.98230	0.80748	D	AEFDI	0.617456	0.60363	D	0.139209728198338	0.48301	3.044143	0.017069787868897	0.40509	2.418583	0.999997851842408	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.13	3.13	0.35090	5.421000	0.66185	2.945000	0.35685	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.0:0.0:1.0:0.0	14.360	0.66327	871	0.31377	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	41	chr15	32968972	.	G	A	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.107;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1305	5	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1176.82	82	chr15	33066576	.	A	G	1176.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.882;DP=456;ExcessHet=1.383;FS=211.078;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.619;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:64,0:64:0:.:.:0,0,666:.	0	0	3	3
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1149.59	82	chr15	33066577	.	C	G	1149.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.732;DP=457;ExcessHet=1.383;FS=213.105;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=-0.572;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:64,0:64:0:.:.:0,0,666:.	1	0	2	3
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	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	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	335.34	82	chr15	33066579	.	C	T	335.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.962;DP=493;ExcessHet=1.383;FS=169.888;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=-0.494;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:65:.:.:0,65,1636:.	3	0	2	1
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	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	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	335.34	82	chr15	33066579	.	C	G	335.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.962;DP=493;ExcessHet=1.383;FS=169.888;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=-0.494;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:89,0:89:65:.:.:0,65,1636:.	4	0	1	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	335.59	84	chr15	33066580	.	C	G	335.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3.206;DP=487;ExcessHet=1.383;FS=166.227;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-0.414;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:82,0:82:0:.:.:0,0,1382:.	1	0	2	3
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	320.34	88	chr15	33066583	.	C	G	320.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.153;DP=478;ExcessHet=1.383;FS=173.452;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.395;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:35:.:.:0,35,1207:.	3	0	2	1
chr15	33066882	33066882	G	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.C1003G:p.P335A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0334072298338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.008	0.58626	D	0.277	0.21880	T	0.037	0.51395	B	0.074	0.46205	B	.	.	.	.	.	.	.	.	.	.	1.08	0.45636	T	-2.69	0.64363	D	0.159	0.17691	-0.7160	0.59658	T	0.120	0.41971	T	7	0.13278058	0.25272	T	0.033407	0.54959	D	0.089	0.25827	0.216	0.13643	0.580833741332	0.57755	.	.	0.0220140850066	0.02206	.	.	.	.	.	.	-0.234522	0.16055	T	-0.574651	0.15025	T	0.354736643431938	0.27203	T	.	.	.	.	.	.	.	.	.	.	.	-3.522	0.20357	T	.	.	0.066	0.02829	B	.;.	.;.	0.791965	0.11622	8.211	0.93620273157758704	0.23489	0.70557	0.34640	D	AEFDBCI	0.128132	0.24577	N	-0.103445059639229	0.37242	2.163944	-0.112176740927218	0.34898	2.012707	0.999999989464196	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.68	4.76	0.60189	4.594000	0.60750	1.040000	0.23550	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.183000	0.21389	0.0:0.1352:0.7242:0.1406	11.562	0.50033	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1892.83	158	chr15	33066882	.	G	C	1892.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=595;ExcessHet=0;FS=2.815;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.263;SOR=0.941	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	5	0	1	0
chr15	33154302	33154302	A	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.T613G:p.S205A,FMN1:NM_001277314:exon4:c.T613G:p.S205A	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00547043749723	.	0.000199681	0.0001	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs530336921	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.664e-05	0.0008	0.0006	3.165e-05	2.801e-05	7.942e-05	0	0	0.0016	9.825e-05	0.0001	0.0005	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0002	2.556e-05	1.829e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.031	0.45039	D	0.229	0.55759	T	.	.	.	.	.	.	0.048700	0.23229	N	0.373374	.	.	.	0.975	0.24501	L	0.19	0.60236	T	-1.43	0.46337	N	0.15	0.15328	-1.0450	0.15825	T	0.059	0.24871	T	8	0.023664713	0.00626	T	0.00547	0.14075	T	0.100	0.28662	0.1	0.01484	0.344945010812	0.34105	0.20371111201020664	0.20288	.	.	0.267574906349	0.05826	T	0.097258	0.39989	T	-0.33217	0.05949	T	-0.406048	0.32682	T	0.0654977485537529	0.08005	T	.	.	.	0.04468667	0.07186	0.057427168	0.10437	0.04468667	0.07186	0.057427168	0.10437	-4.216	0.26983	T	.	.	0.084	0.22208	B	.;.;.;.	.;.;.;.	1.292380	0.16934	12.86	0.92274494267795759	0.21659	0.13099	0.17662	N	AEFDBI	0.129914	0.24827	N	-1.0589473389679	0.07413	0.3442902	-1.07542947939092	0.08185	0.401378	0.99995389564356	0.48110	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.14	1.43	0.21585	0.212000	0.17289	1.727000	0.28301	0.756000	0.94297	0.004000	0.16614	0.999000	0.35428	0.840000	0.39645	0.5138:0.1459:0.1778:0.1624	1.087	0.01552	887	0.27948	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	991.83	43	chr15	33154302	.	A	C	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=303;ExcessHet=0;FS=2.818;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.841;SOR=0.434	GT:AD:DP:GQ:PL	0/1:53,38:91:99:1002,0,1460	5	0	1	0
chr15	34103466	34103466	G	A	exonic	PGBD4	.	nonsynonymous SNV	PGBD4:NM_152595:exon1:c.G935A:p.R312H	.	422	1087	12	1	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0021	0.00359425	0.0033	0.0008	0.0006	0.0001	0.0006	0.0040	0.0011	0.0071	0.0032082	496	154602	rs141918057	0.0029	0.0029	0.0028	0.0030	0.0068	0.0028	0.0028	0.0063	0.0062	0.0003	0.0005	0.0002	0	0.0011	0.0033	0.0031	0.0023	0.0068	0.0022	0.0022	0.0023	0.0020	0.0089	0.0020	0.0019	0.0068	0.0061	0.0007	0	0.0010	0	0.0006	0.0003	0	0.0034	0.0009	0.0089	0.014	0.53172	D	0.042	0.50226	D	0.999	0.77913	D	0.953	0.69275	D	0.377073	0.04397	U	2.921910	0.999989	0.18198	N	0.805	0.20218	L	2.24	0.17923	T	-1.65	0.39503	N	0.11	0.09631	-1.0259	0.21788	T	0.092	0.35174	T	9	0.007869095	0.00179	T	.	.	.	0.090	0.26093	.	.	0.21737058555	0.21362	0.2922857446685509	0.29141	0.717844293268	0.62061	0.430106282234	0.29223	T	0.049587	0.28350	T	-0.558818	0.00258	T	-0.572729	0.15200	T	0.548341333866119	0.34415	D	0.559344	0.19537	T	0.12660946	0.29651	0.09559757	0.22681	0.12660946	0.29651	0.09559757	0.22680	-4.125	0.25658	T	.	.	0.161	0.35498	B	.	.	2.506051	0.32358	19.02	0.99833569448293158	0.91456	0.06318	0.12315	N	AEFGBCI	0.045188	0.07363	N	-0.174768268800229	0.34188	1.948363	-0.426505887473238	0.24223	1.325252	0.999877009735697	0.44625	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.622129	0.49086	0	.	.	0.481	0.481	0.16020	1.078000	0.30365	-1.189000	0.06074	0.353000	0.19991	0.032000	0.20554	0.000000	0.08366	0.620000	0.31896	.	.	.	771	0.49057	PiggyBac transposable element-derived protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1463.83	37	chr15	34103466	.	G	A	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.396;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.044;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1064	5	0	1	0
chr15	34242208	34242208	T	G	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon15:c.A2011C:p.M671L,SLC12A6:NM_005135:exon16:c.A1903C:p.M635L,SLC12A6:NM_133647:exon16:c.A2056C:p.M686L,SLC12A6:NM_001042494:exon17:c.A1879C:p.M627L,SLC12A6:NM_001042495:exon17:c.A1879C:p.M627L,SLC12A6:NM_001042496:exon17:c.A2029C:p.M677L,SLC12A6:NM_001365088:exon17:c.A2056C:p.M686L	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.020431993491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	D	0.103082	0.984308	0.41290	D	-2.99	0.00014	N	-4.54	0.97732	D	1.36	0.00878	N	0.305	0.34444	-0.0106	0.82037	T	0.492	0.80708	T	10	0.07766375	0.12284	T	0.020432	0.43023	T	0.343	0.66488	0.566	0.68768	0.179529687257	0.17594	0.36829319292533486	0.36743	0.974042105135	0.73489	0.635146737099	0.57875	T	0.534301	0.83940	D	0.0947219	0.63717	D	-0.101715	0.63264	T	0.23075507581234	0.21987	T	0.822018	0.48145	T	0.09822812	0.23167	0.13434298	0.32193	0.09822812	0.23167	0.13434298	0.32192	0.51	0.00268	T	.	.	0.062	0.01348	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.196240	0.28006	17.65	0.67894651845458498	0.08492	0.77817	0.38307	D	AEFDBHI	0.221442	0.34607	N	-0.722688189610016	0.15384	0.7748804	-0.376248780316141	0.25707	1.415367	0.999992102931556	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.93	4.93	0.64394	1.940000	0.39851	2.888000	0.35372	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1709:0.8291	9.934	0.40706	822	0.40702	.;.;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	53.73	37	chr15	34242208	.	T	G	53.73	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.357;DP=213;ExcessHet=0;FS=41.638;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.59;SOR=5.707	GT:AD:DP:GQ:PL	0/0:29,7:36:16:0,16,551	4	0	1	1
chr15	34982083	34982083	A	C	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.T1352G:p.F451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00628803265315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.21	0.26714	T	0.979	0.59044	D	0.533	0.48638	P	0.131441	0.18622	N	0.525534	0.995645	0.23238	N	2.28	0.64929	M	2.91	0.10008	T	-1.87	0.43717	N	0.448	0.48596	-1.0468	0.15303	T	0.025	0.10733	T	10	0.2601389	0.43459	T	0.006288	0.16522	T	0.179	0.44899	0.627	0.76254	0.0675242888579	0.06100	0.3345469562392054	0.33367	0.536020856062	0.50941	0.471168965101	0.34841	T	0.058551	0.30873	T	-0.118551	0.33359	T	-0.408067	0.32447	T	0.771440505981445	0.44526	D	0.712529	0.32403	T	0.078712724	0.17940	0.10735428	0.25844	0.078712724	0.17939	0.10735428	0.25843	-3.438	0.15573	T	.	.	0.137	0.29751	B	.	.	3.635315	0.51521	23.1	0.9862206733711274	0.43785	0.95425	0.64670	D	AEBCI	0.260610	0.37873	N	0.176384673019655	0.50065	3.200338	0.208877036302644	0.50339	3.22703	0.998447555729051	0.36977	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	3.1	0.34780	3.478000	0.52921	5.868000	0.50503	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.746:0.0:0.0:0.254	10.746	0.45383	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	953.83	39	chr15	34982083	.	A	C	953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.692;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.512;SOR=0.744	GT:AD:DP:GQ:PL	0/1:52,37:89:99:964,0,1458	5	0	1	0
chr15	34982383	34982383	A	G	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.T1052C:p.L351S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00394306500306	.	0.000199681	2.663e-05	0	0	0	0	4.911e-05	0	0	2.59e-05	4	154602	rs201014984	2.54e-05	2.531e-05	2.048e-05	3.037e-05	0.0002	1.874e-05	1.636e-05	2.12e-05	1.864e-05	0	6.884e-05	0	0	0	0.0002	2.972e-05	0	0	2.627e-05	2.625e-05	3.855e-05	1.343e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.454	0.08891	T	0.419	0.14158	T	0.022	0.18677	B	0.01	0.14941	B	0.014628	0.28476	N	0.150804	0.999966	0.18878	N	1.26	0.31868	L	3.06	0.08634	T	0.68	0.02228	N	0.091	0.06990	-0.9859	0.33615	T	0.013	0.04890	T	10	0.03548658	0.01799	T	0.003943	0.09305	T	0.059	0.16972	.	.	0.043077524339	0.03247	0.2073852515470862	0.20654	0.179181438304	0.20162	0.286172777414	0.08368	T	0.015175	0.12778	T	-0.383274	0.02971	T	-0.678265	0.07089	T	0.0658029913902283	0.08049	T	0.445855	0.12478	T	0.024976626	0.01384	0.03172013	0.01801	0.024976626	0.01384	0.03172013	0.01801	-3.351	0.14404	T	.	.	0.164	0.36134	B	.	.	1.373818	0.17843	13.40	0.71645070014895962	0.09699	0.63257	0.32033	D	AEFBCI	0.063450	0.12262	N	-0.443539635189629	0.23959	1.290363	-0.282494022952153	0.28674	1.600619	0.999136654289089	0.38535	0.732398	0.92422	0	0.724815	0.89359	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.55	4.43	0.52967	1.175000	0.31553	6.003000	0.52520	0.756000	0.94297	0.976000	0.34826	1.000000	0.68203	0.487000	0.28723	0.8313:0.0:0.1687:0.0	8.607	0.32940	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	542.83	39	chr15	34982383	.	A	G	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=256;ExcessHet=0;FS=0.999;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=1.4;SOR=0.874	GT:AD:DP:GQ:PL	0/1:40,22:62:99:553,0,1112	5	0	1	0
chr15	38559862	38559862	G	A	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon2:c.C179T:p.A60V,RASGRP1:NM_001306086:exon2:c.C179T:p.A60V,RASGRP1:NM_005739:exon2:c.C179T:p.A60V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0229745851635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490332709	4.105e-06	4.104e-06	5.445e-06	2.751e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.032	0.63109	D	0.95	0.56768	P	0.817	0.59497	P	0.000005	0.62929	D	0.105018	0.999993	0.58761	D	2.565	0.75005	M	0.51	0.55439	T	-2.44	0.74051	N	0.735	0.91276	-0.5105	0.68268	T	0.281	0.65289	T	10	0.8972701	0.89082	D	0.022975	0.45913	T	0.321	0.64318	0.856	0.95547	0.659814973701	0.65696	0.7184347440114798	0.71786	0.884896445063	0.69936	0.515768051147	0.41031	T	0.361917	0.72791	T	0.0696763	0.60810	D	-0.054826	0.66692	D	0.969162940979004	0.68494	D	0.893211	0.68393	D	0.6256803	0.74067	0.41689643	0.65760	0.6256803	0.74068	0.41689643	0.65760	-7.138	0.55035	T	0.5885904200411043	0.65538	0.333	0.59432	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.906419	0.80684	27.4	0.99910759647331548	0.98022	0.91633	0.53936	D	AEFDGBCIJ	0.873978	0.79662	D	0.726797771960398	0.81388	7.510756	0.726282446345789	0.84375	8.274212	0.999999999992683	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	4.97	4.97	0.65419	6.955000	0.75805	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.791	0.91941	578	0.69858	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	987.83	33	chr15	38559862	.	G	A	987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.809;DP=256;ExcessHet=0;FS=2.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.488;SOR=0.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1133	5	0	1	0
chr15	39588622	39588622	C	T	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon10:c.C1568T:p.T523I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00971750780854	.	.	1.703e-05	9.707e-05	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs748012239	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	0.197	0.27855	T	0.026	0.19406	B	0.012	0.16012	B	0.557327	0.11372	N	0.716432	0.998808	0.21894	N	1.105	0.28596	L	0.17	0.60485	T	-0.84	0.22944	N	0.182	0.19728	-1.0137	0.25752	T	0.101	0.37543	T	10	0.07813692	0.12418	T	0.009718	0.25381	T	0.044	0.11924	0.462	0.53079	0.390913227754	0.38705	0.42519809564220296	0.42436	0.503164557005	0.48655	0.247804701328	0.03539	T	0.126807	0.45344	T	-0.261647	0.12708	T	-0.431468	0.29769	T	0.039424900795543	0.03586	T	0.715028	0.32735	T	0.13737878	0.31811	0.093699224	0.22143	0.13737878	0.31811	0.093699224	0.22143	-6.141	0.47444	T	.	.	0.068	0.02670	B	.	.	1.929242	0.24505	16.42	0.99234264705903741	0.56310	0.11374	0.16591	N	ALL	0.142685	0.26519	N	-0.617610405441943	0.18415	0.955887	-0.527967546019152	0.21395	1.157206	0.999999799768602	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.87	1.48	0.21900	0.488000	0.22080	1.840000	0.29181	0.599000	0.40250	0.001000	0.13787	0.003000	0.18671	0.991000	0.66497	0.2784:0.495:0.0:0.2267	4.931	0.13269	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	848.83	38	chr15	39588622	.	C	T	848.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.478;DP=253;ExcessHet=0;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.402;SOR=0.705	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	581.98	37	chr15	40356171	.	T	*	581.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.46;DP=255;ExcessHet=3.1439;FS=22.072;MLEAC=2;MLEAF=0.167;MQ=59.06;MQRankSum=1.45;QD=3.61;ReadPosRankSum=-0.195;SOR=2.081	GT:AD:DP:GQ:PL	0/1:32,18:50:99:519,0,1196	4	0	2	0
chr15	40356190	40356255	CCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	-	exonic	PHGR1	.	nonframeshift deletion	PHGR1:NM_001145643:exon3:c.136_201del:p.P53_G74del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.083e-06	3.482e-06	3.203e-06	4.997e-06	4.051e-05	1.2e-06	8.7e-07	5.08e-06	1.9e-06	0	0	0	4.051e-05	0	0	2.046e-06	0	3.06e-05	2.78e-05	2.161e-05	2.648e-05	2.924e-05	5.903e-05	4.61e-06	1.73e-06	.	.	5.903e-05	0	0	0	0	0.0003	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	714.23	29	chr15	40356189	.	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	A	714.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.941;DP=341;ExcessHet=1.383;FS=26.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.78;SOR=1.609	GT:AD:DP:GQ:PL	0/0:32,0:50:99:519,614,1868	5	0	1	0
chr15	40356189	40356255	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	714.23	29	chr15	40356189	.	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	*	714.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=341;ExcessHet=1.383;FS=26.684;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.78;SOR=1.609	GT:AD:DP:GQ:PL	0/1:32,18:50:99:519,0,1196	4	0	2	0
chr15	40813744	40813744	G	A	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_001258420:exon8:c.G938A:p.S313N,ZFYVE19:NM_001077268:exon9:c.G1142A:p.S381N,ZFYVE19:NM_001258421:exon9:c.G617A:p.S206N,ZFYVE19:NM_032850:exon10:c.G1112A:p.S371N	.	411	1110	1	0	0	1	0.000450248	.	.	.	3202653	ZFYVE19-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.0158950340003	0.0027	0.00139776	0.0025	0.0006	0.0007	0.0002	0.0040	0.0036	0	0.0013	0.0025226	390	154602	rs34516375	0.0033	0.0033	0.0033	0.0033	0.0038	0.0032	0.0032	0.0037	0.0036	0.0004	0.0010	0.0032	7.557e-05	0.0039	0.0014	0.0038	0.0025	0.0014	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0	0.0020	0.0035	0	0.0038	0	0.0043	0.0014	0.0027	0.116	0.39820	T	0.068	0.92824	T	0.753	0.90584	P	0.352	0.88582	B	0.000000	0.84330	D	0.078430	0.999784	0.58761	D	3.08	0.87267	M	1.33	0.35031	T	-1.55	0.40850	N	0.627	0.65501	-0.8550	0.51620	T	0.170	0.51101	T	10	0.008516759	0.00193	T	0.015895	0.36884	T	0.153	0.40148	.	.	0.53832913131	0.53483	0.6268477801904936	0.62617	0.604939255861	0.55410	0.599707186222	0.52862	T	0.03809	0.24714	T	-0.387541	0.02790	T	-0.328361	0.41653	T	0.0345144880575221	0.02725	T	0.934407	0.76145	D	0.35247758	0.57259	0.26174188	0.51957	0.35247758	0.57259	0.26174188	0.51956	-7.831	0.60968	D	.	.	0.488	0.73392	A	.;.;.;.;.;.	.;.;.;.;.;.	4.755279	0.76829	26.6	0.99762796536691933	0.85172	0.99133	0.91711	D	AEFDGBI	0.937645	0.93571	D	0.687634075813981	0.78821	6.949628	0.705258389371661	0.82777	7.852077	0.999999999999998	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.324000	0.95607	9.991000	0.82984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.815	0.88540	229	0.91079	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	748.83	35	chr15	40813744	.	G	A	748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.601;SOR=0.674	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	5	0	1	0
chr15	40953794	40953794	C	T	exonic	CHAC1	.	nonsynonymous SNV	CHAC1:NM_001142776:exon1:c.C211T:p.H71Y,CHAC1:NM_024111:exon1:c.C211T:p.H71Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.240142455418	.	0.000798722	0.0006	0.0001	9.078e-05	0	0	0	0	0.0046	0.0004657	72	154602	rs545520387	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	4.511e-05	0	0	0	0	0	0.0003	0.0032	9.847e-05	9.842e-05	3.853e-05	0.0002	0.0031	6.001e-05	4.875e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	0.000000	0.84330	D	0.047110	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.915	0.91736	-0.1558	0.78774	T	0.393	0.74619	T	10	0.029024154	0.01030	T	0.240142	0.88661	D	0.528	0.80067	0.793	0.91438	0.818860324178	0.81715	.	.	1.64318045062	0.89398	0.760634541512	0.76023	T	.	.	.	-0.00431519	0.51058	T	0.219552	0.84153	D	0.187026982081099	0.19668	T	0.850515	0.53399	D	0.5916151	0.72239	0.39177683	0.63939	0.5916151	0.72240	0.39177683	0.63939	-9.426	0.71375	D	.	.	0.523	0.65603	A	.;.;.;.	.;.;.;.	4.773200	0.77289	26.7	0.99796203698855668	0.88106	0.95038	0.63212	D	ALL	0.864628	0.78348	D	0.906820301852215	0.92088	11.22751	0.85805997741909	0.93478	12.06928	1.0	0.98316	0.65757	0.49021	0	0.706955	0.78570	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	5.42	5.42	0.78666	7.284000	0.78011	7.538000	0.60033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.407	0.94640	150	0.94078	.;Gamma-glutamyl cyclotransferase-like;Gamma-glutamyl cyclotransferase-like;Gamma-glutamyl cyclotransferase-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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	816.83	40	chr15	40953794	.	C	T	816.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.21;DP=236;ExcessHet=0;FS=6.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.524;SOR=0.192	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	5	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-06	6.84e-06	8.172e-06	5.504e-06	5.398e-06	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	0	0	0	5.632e-05	0	5.398e-06	1.656e-05	0	0.0005	0.0014	0.0005	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0003	0	0.0003	0.0009	0.0004	0.0009	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1724.01	37	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	1724.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.24;DP=364;ExcessHet=0.4139;FS=9.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.468;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	5	0	1	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.499e-05	9.718e-05	0	0	0	0.0001	0	0	.	.	.	.	4.792e-06	6.156e-06	2.724e-06	6.88e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	2.241e-05	0	0	3.755e-05	0.0002	2.699e-06	0	0	0.0008	0.0025	0.0009	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0009	0.0012	0	0.0012	0.0034	0.0009	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1724.01	37	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1724.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.24;DP=364;ExcessHet=0.4139;FS=9.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.468;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1345	5	0	1	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W,MAPKBP1:NM_014994:exon20:c.C2236T:p.R746W,MAPKBP1:NM_001128608:exon21:c.C2254T:p.R752W	Nephronophthisis 20, Autosomal recessive	431	1045	44	2	0	48	0.0224509	.	.	.	714428	not_provided|Nephronophthisis_20	MedGen:C3661900|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	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	0.011078	0.010101	0.002717	0.005848	0.000000	0.017241	0.021341	0.022727	0.08333	1710.83	36	chr15	41818902	.	C	T	1710.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.59;DP=333;ExcessHet=0;FS=1.315;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.709;SOR=0.869	GT:AD:DP:GQ:PL	0/1:72,70:144:99:1721,0,1650	5	0	1	0
chr15	41856598	41856598	T	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon53:c.A8809T:p.N2937Y	.	422	1074	26	0	0	26	0.0119595	0.2225	0.45	.	797119	not_provided|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.155	.	0.0045	0.00159744	0.0065	0.0006	0.0032	0	0.0018	0.0097	0.0054	0.0030	0.0042302	654	154602	rs200163654	0.0063	0.0063	0.0064	0.0062	0.0080	0.0062	0.0061	0.0073	0.0073	0.0008	0.0028	0.0025	2.589e-05	0.0016	0.0080	0.0074	0.0048	0.0023	0.0047	0.0047	0.0051	0.0043	0.0084	0.0044	0.0043	0.0078	0.0076	0.0011	0	0.0035	0.0032	0	0.0010	0.0102	0.0084	0.0047	0.0017	0.023	0.48186	D	0.003	0.76473	D	0.989	0.62824	D	0.832	0.59730	P	0.016693	0.27912	N	0.333168	0.959119	0.38110	D	2.655	0.77738	M	0.75	0.50192	T	-4.54	0.78472	D	0.62	0.63544	-0.6326	0.63460	T	0.191	0.54330	T	10	0.010663599	0.00236	T	0.279638	0.90184	D	0.155	0.40530	.	.	0.832998634691	0.83140	0.144041453788278	0.14327	.	.	0.479254662991	0.35954	T	0.107492	0.41975	T	-0.429509	0.01492	T	-0.383763	0.35282	T	0.020169583744429	0.00717	T	0.455954	0.13062	T	0.27375516	0.50442	0.32191783	0.58136	0.27375516	0.50442	0.32191783	0.58136	-7.645	0.58624	D	.	.	0.161	0.35560	B	.	.	4.076076	0.60593	24.2	0.99373321489491717	0.61541	0.99036	0.90290	D	AEFBI	0.544902	0.55963	D	0.507940657412181	0.67557	5.097722	0.455150328200635	0.65048	4.774721	0.999999494109063	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	3.889000	0.55925	3.063000	0.36168	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:0.0:1.0	14.742	0.69084	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.005102	0.017711	0.005917	0.000000	0.008772	0.000000	0.007634	0.08333	1260.83	56	chr15	41856598	.	T	A	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.83;DP=355;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.199;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	5	0	1	0
chr15	41873610	41873610	T	C	splicing	SPTBN5	NM_016642:exon26:c.4891-2A>G	.	.	.	421	1095	6	0	0	6	0.00273224	1.0000	0.912	.	2817465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0004	0	0.0023	0	0	0.0009	0	0	9.06e-05	14	154602	rs201755073	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0010	7.949e-05	0	0	0.0037	0.0001	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0003	0.0020	0.0018	0	0	0.0027	0	0	0	0.0068	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0870298	0.62853	D	0.301795	0.88280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798290	0.77943	26.8	0.99487612758217414	0.67235	0.98004	0.78799	D	AEFGBI	.	.	.	1.01545169791207	0.96200	14.41447	0.853787589948177	0.93234	11.91074	0.99999076030791	0.74766	0.099367	0.02607	0	0.059962	0.00310	0	0.074216	0.02223	0	0.117559	0.03655	0	0.852332	0.51913	5.24	5.24	0.72863	4.999000	0.63678	3.598000	0.39212	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	14.156	0.64950	197	0.92378	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1049.83	35	chr15	41873610	.	T	C	1049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.146;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.833;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	5	0	1	0
chr15	41879747	41879747	C	-	exonic	SPTBN5	.	frameshift deletion	SPTBN5:NM_016642:exon15:c.2929delG:p.E977Nfs*2	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0004	2.3e-07	9e-08	6.22e-05	2.569e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1121.79	40	chr15	41879746	.	TC	T	1121.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.468;SOR=0.681	GT:AD:DP:GQ:PL	0/1:61,39:100:99:1132,0,1966	5	0	1	0
chr15	42083780	42083780	C	T	splicing	PLA2G4D	NM_178034:exon7:c.472-1G>A	.	.	.	419	1090	13	0	0	13	0.00592795	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0303514	0.0176	0.0016	0.0640	0.1046	0.0070	0.0019	0.0134	0.0179	0.0161317	2494	154602	rs12442923	0.0066	0.0066	0.0067	0.0065	0.1029	0.0065	0.0065	0.1003	0.0992	0.0016	0.0555	0.0018	0.1029	0.0074	0.0085	0.0006	0.0092	0.0157	0.0081	0.0082	0.0074	0.0089	0.0980	0.0078	0.0076	0.0910	0.0882	0.0013	0	0.0283	0.0014	0.0980	0.0056	0.0102	0.0011	0.0080	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.65039e-21	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295059	0.09133	T	-0.119131	0.61874	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.763962	0.93445	33	0.99021041686711508	0.50569	0.79996	0.39755	D	AEFDBCI	.	.	.	0.817461207292694	0.87186	9.131558	0.574163006531401	0.73095	5.914449	0.999947807246276	0.47345	0.06567	0.01388	0	0.085267	0.02369	0	0.056003	0.00319	0	0.075334	0.01956	0	0.965	0.68401	3.79	3.79	0.42757	4.413000	0.59549	7.558000	0.60417	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	0.0:1.0:0.0:0.0	11.331	0.48712	89	0.96298	.	.	.	.	.	.	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	640.83	36	chr15	42083780	.	C	T	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-1.582;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	5	0	1	0
chr15	42087702	42087702	T	-	splicing	PLA2G4D	NM_178034:exon2:c.46-2A>-	.	.	.	414	1078	28	2	0	32	0.0146252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00259585	0.0039	0.0011	0.0020	0	0.0005	0.0052	0.0079	0.0052	0.0004786	74	154602	rs561132236	0.0043	0.0043	0.0042	0.0045	0.0144	0.0043	0.0042	0.0119	0.0110	0.0009	0.0030	0.0096	0	0.0007	0.0144	0.0045	0.0048	0.0058	0.0039	0.0039	0.0037	0.0042	0.0086	0.0037	0.0036	0.0074	0.0069	0.0008	0	0.0086	0.0084	0.0002	0.0008	0.0102	0.0051	0.0095	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	546.79	37	chr15	42087701	.	CT	C	546.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.622;DP=217;ExcessHet=0;FS=2.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.927;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	5	0	1	0
chr15	42329305	42329305	G	T	splicing	GANC	NM_198141:exon14:c.1501-1G>T	.	.	.	428	1093	1	0	0	1	0.000457247	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422205569	2.741e-06	3.42e-06	2.727e-06	2.755e-06	3.601e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.601e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432057	0.91636	D	0.382843	0.91533	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.500663	0.91581	32	0.99413229629811062	0.63405	0.99455	0.96243	D	AEFDBI	.	.	.	1.21826081023916	0.99700	25.45772	1.06257911921415	0.99513	23.35007	0.999999999999961	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.078618	0.02440	0	0.109871	0.03346	0	0.984529	0.91788	5.07	5.07	0.68106	9.973000	0.99140	11.668000	0.94068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.442	0.90616	528	0.73785	.	.	.	.	.	.	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	974.83	33	chr15	42329305	.	G	T	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.774;DP=249;ExcessHet=0;FS=1.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.864;SOR=0.498	GT:AD:DP:GQ:PL	0/1:43,40:83:99:985,0,1100	5	0	1	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	175.24	35	chr15	42417393	.	G	C	175.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.728;DP=234;ExcessHet=0.4139;FS=92.815;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.972;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:38:.:.:0,38,813:.	4	0	1	1
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	175.24	35	chr15	42417393	.	G	A	175.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.728;DP=234;ExcessHet=0.4139;FS=92.815;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.972;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:38:.:.:0,38,813:.	4	0	1	1
chr15	42528419	42528419	C	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.C424T:p.R142C	.	429	1081	12	0	0	12	0.00551978	0.9859	0.904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0133209585191	.	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs138813563	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0002	0.0008	2.519e-05	0	0.0026	0.0001	0.0002	0.0012	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	4.812e-05	0	6.537e-05	0.0014	0.0002	0	0	0.0001	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	.	.	.	-6.8	0.93329	D	0.697	0.70175	-0.0175	0.81890	T	0.463	0.79223	T	9	0.2709906	0.44633	T	0.013321	0.32631	T	0.408	0.72022	.	.	0.536231820724	0.53273	0.8337852390099364	0.83337	1.07623771461	0.76979	0.658186912537	0.61149	T	0.833209	0.96038	D	0.0712392	0.61000	D	0.279113	0.87075	D	0.557890355587006	0.34775	D	0.957038	0.83775	D	0.81554246	0.84921	0.62362677	0.78067	0.81554246	0.84922	0.62362677	0.78067	-11.675	0.83232	D	.	.	0.151	0.42848	B	.;.	.;.	6.346805	0.95056	34	0.99935348248226652	0.99579	0.90456	0.51647	D	AEFBI	0.462435	0.51178	N	0.748731593673055	0.82822	7.858641	0.708996522922809	0.83062	7.924159	0.999482276470773	0.39952	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	5.83	0.93059	1.825000	0.38720	3.978000	0.40881	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.1515:0.8485:0.0:0.0	13.961	0.63688	92	0.96160	SNAP-25|Target SNARE coiled-coil homology domain;SNAP-25	.	.	.	.	.	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	0.001017	0.000000	0.001359	0.000000	0.000000	0.000000	0.003145	0.000000	0.08333	404.83	38	chr15	42528419	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.977;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,16:35:99:415,0,430	5	0	1	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10	.	432	1070	14	0	6	20	0.00649954	.	.	.	703197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4643.79	37	chr15	42685477	.	A	AACCCCATT	4643.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.95;DP=673;ExcessHet=0;FS=0.447;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-0.954;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,101,1343:.	5	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9139.05	37	chr15	42685478	.	G	GTGAGCTCCAA	9139.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.797;DP=763;ExcessHet=0.4139;FS=1.1;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.907;SOR=0.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,101,1343:.	5	0	1	0
chr15	42736590	42736590	C	T	exonic	CDAN1	.	nonsynonymous SNV	CDAN1:NM_138477:exon2:c.G281A:p.R94H	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.879645685743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.28271	T	0.216	0.92824	T	0.961	0.55431	D	0.425	0.45259	B	0.066816	0.21785	N	0.414481	0.652208	0.30523	N	1.295	0.32453	L	-2.24	0.87194	D	-1.04	0.54382	N	0.256	0.28965	-0.0399	0.81420	T	0.526	0.82350	D	10	0.33614916	0.50760	T	0.879646	0.99083	D	0.257	0.56827	0.236	0.16608	0.411411441165	0.40760	0.5284091621115986	0.52764	2.1666736912	0.95441	0.920750081539	0.98380	D	0.151298	0.49117	T	-0.0171324	0.49262	T	-0.262386	0.48586	T	0.914012730121613	0.57050	D	0.745225	0.40183	T	0.07040858	0.15505	0.048092667	0.07070	0.07040858	0.15505	0.048092667	0.07069	-6.154	0.47550	T	0.21297146298502706	0.28588	0.198	0.46378	B	.;.	.;.	4.198665	0.63341	24.6	0.9991331061624471	0.98238	0.35561	0.25330	N	AEFDBHCIJ	0.074309	0.14891	N	0.184128103916754	0.50437	3.233706	0.169276277986722	0.48171	3.036794	0.999980745741134	0.51787	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.22	3.3	0.36912	2.064000	0.41059	4.301000	0.42940	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.9019:0.0:0.0981	9.627	0.38919	82	0.96572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	230.83	38	chr15	42736590	.	C	T	230.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.18;DP=143;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.91;SOR=1.179	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,609	5	0	1	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A	Spinocerebellar ataxia 11, Autosomal dominant	2	1514	6	0	0	6	0.00197759	.	.	.	441741	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	406.83	33	chr15	42840406	.	C	G	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.895;DP=257;ExcessHet=0;FS=2.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.719;SOR=0.449	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr15	42945463	42945463	T	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon47:c.A5116C:p.N1706H	Johanson-Blizzard syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0734154755636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.235	0.63160	M	0.18	0.60361	T	-4.52	0.78302	D	0.673	0.68082	-0.3687	0.73001	T	0.372	0.73083	T	10	0.6965835	0.72182	D	0.073415	0.71782	D	0.336	0.65816	0.228	0.15406	0.85081843959	0.84938	0.6458271162850663	0.64517	0.687227062568	0.60371	0.798536241055	0.81740	T	0.68154	0.90654	D	0.0576418	0.59317	T	-0.154978	0.58800	T	0.994418108471991	0.85688	D	0.952105	0.81652	D	0.7864204	0.83050	0.6394537	0.78940	0.7864204	0.83052	0.6394537	0.78941	-5.73	0.43959	T	0.8889155133377773	0.94422	0.579	0.67998	P	.	.	4.431289	0.68724	25.3	0.99593061182629194	0.73748	0.98829	0.87402	D	AEFGBI	0.895809	0.83623	D	0.761821197743358	0.83673	8.079257	0.74396087258604	0.85707	8.661009	0.999999660067243	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.903000	0.86133	7.928000	0.74873	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	15.612	0.76481	37	0.98026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	508.83	35	chr15	42945463	.	T	G	508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.839;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1402	5	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	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	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	156.08	103	chr15	43021291	.	A	G	156.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.213;DP=444;ExcessHet=0.4139;FS=114.415;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=0.463;SOR=9	GT:AD:DP:GQ:PL	0/0:75,20:95:21:0,21,1282	4	0	2	0
chr15	43207238	43207238	G	A	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon9:c.C1369T:p.R457C,EPB42:NM_001114134:exon9:c.C1279T:p.R427C	Spherocytosis, type 5	0	1513	9	0	0	9	0.0029654	.	.	.	255218	not_provided|not_specified|Hereditary_spherocytosis_type_5	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.0150273381744	0.0029	0.00219649	0.0027	0.0011	0.0030	0	0.0006	0.0040	0.0033	0.0005	0.0030077	465	154602	rs45594632	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0009	0.0035	0.0026	0	0.0003	0.0040	0.0059	0.0043	0.0005	0.0029	0.0029	0.0031	0.0027	0.0051	0.0027	0.0026	0.0042	0.0039	0.0007	0	0.0051	0.0032	0.0002	0.0005	0.0136	0.0045	0.0043	0.0012	0.073	0.35918	T	0.221	0.32568	T	0.456	0.40571	P	0.081	0.29943	B	0.000080	0.52346	N	0.173924	0.999386	0.46865	D	2.44	0.70756	M	0.72	0.50976	T	-4.46	0.79399	D	0.273	0.34981	-1.0205	0.23551	T	0.070	0.28478	T	10	0.009778529	0.00220	T	0.015027	0.35522	T	0.127	0.34888	.	.	0.684028224155	0.68133	0.7049077322788614	0.70432	.	.	0.284432560205	0.08118	T	0.547313	0.84608	D	-0.38715	0.02806	T	-0.322918	0.42255	T	0.0443040641848691	0.04475	T	0.844016	0.52137	T	0.18646301	0.40056	0.16046575	0.37374	0.18646301	0.40056	0.16046575	0.37373	-5.135	0.42139	T	0.8031480437111392	0.87949	0.097	0.29995	B	.;.;.;.;.	.;.;.;.;.	4.230720	0.64060	24.7	0.99928634985142495	0.99222	0.45219	0.27490	N	AEFGBCI	0.510472	0.53951	D	-0.0478384161797629	0.39698	2.345351	0.0287026528778901	0.41052	2.460062	0.997380856824466	0.35561	0.603402	0.35316	0	0.563428	0.19063	0	0.573078	0.19857	0	0.663205	0.64265	0	.	.	5.87	4.97	0.65419	1.535000	0.35667	5.201000	0.47933	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0809:0.0:0.7595:0.1596	7.857	0.28653	16	0.98727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.002717	0.005848	0.000000	0.008621	0.012195	0.000000	0.08333	1443.83	33	chr15	43207238	.	G	A	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.66;DP=285;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.671;SOR=0.598	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1454,0,1374	5	0	1	0
chr15	43328938	43328938	T	C	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.A1552G:p.T518A	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0184763568371	0.0033	0.00299521	0.0032	0.0009	0.0034	0	0.0006	0.0047	0.0055	0.0007	0.0033311	515	154602	rs45530831	0.0050	0.0050	0.0051	0.0049	0.0057	0.0049	0.0048	0.0056	0.0055	0.0008	0.0040	0.0123	0	0.0008	0.0045	0.0057	0.0051	0.0008	0.0034	0.0034	0.0036	0.0033	0.0061	0.0032	0.0031	0.0051	0.0047	0.0007	0	0.0061	0.0156	0.0002	0.0006	0.0136	0.0047	0.0047	0.0015	0.462	0.08685	T	0.593	0.08134	T	0.817	0.45613	P	0.217	0.37636	B	0.232889	0.15880	N	0.638709	1	0.20581	N	2.43	0.70455	M	-0.54	0.70950	T	-1.12	0.28906	N	0.094	0.07398	-0.9412	0.42426	T	0.126	0.43215	T	10	0.0071617067	0.00163	T	0.018476	0.40558	T	0.090	0.26093	.	.	0.307332253619	0.30352	0.23474792520774915	0.23389	0.178114734319	0.20035	0.400980174541	0.25205	T	0.034674	0.23413	T	-0.46088	0.00971	T	-0.431073	0.29812	T	0.015439965984036	0.00347	T	0.310069	0.06017	T	0.055001818	0.10631	0.025971876	0.00663	0.055001818	0.10631	0.025971876	0.00663	-4.639	0.32658	T	.	.	0.106	0.19559	B	.	.	2.160291	0.27519	17.49	0.84157553750315472	0.15129	0.25076	0.22589	N	AEFGBC	0.046109	0.07619	N	-0.594213747012099	0.19119	0.9981681	-0.630397056174975	0.18713	1.000918	0.999908018908007	0.45458	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.605231	0.38476	0	.	.	5.66	0.783	0.17717	0.532000	0.22776	3.497000	0.38753	-0.171000	0.11205	0.931000	0.32310	1.000000	0.68203	0.597000	0.31313	0.1633:0.2636:0.0:0.5731	3.380	0.06828	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.005848	0.000000	0.008621	0.021341	0.000000	0.08333	1956.83	33	chr15	43328938	.	T	C	1956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.66;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.779;SOR=0.676	GT:AD:DP:GQ:PL	0/1:82,75:157:99:1967,0,2038	5	0	1	0
chr15	43526584	43526584	G	A	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.G5111A:p.R1704Q	.	0	225	1	0	0	1	0.00221729	.	.	.	2722954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00839327428099	8.1e-05	.	8.308e-05	0	0	0	0	4.512e-05	0	0.0004	7.12e-05	11	154602	rs368929949	3.762e-05	3.762e-05	3.131e-05	4.4e-05	0.0005	2.96e-05	2.656e-05	0.0003	0.0003	0	2.236e-05	0	0	1.873e-05	0	4.496e-06	0.0001	0.0005	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.249	0.24840	T	1.0	0.90584	D	0.951	0.68939	D	.	.	.	.	0.827393	0.28804	N	2.05	0.56469	M	4.61	0.01851	T	-0.94	0.25118	N	0.432	0.47115	-1.0257	0.21853	T	0.015	0.05994	T	9	0.10539845	0.19480	T	0.008393	0.22206	T	0.070	0.20419	.	.	0.376089632046	0.37223	0.20264761633170875	0.20181	0.806184163407	0.66472	0.59560585022	0.52284	T	0.058985	0.30992	T	-0.337757	0.05545	T	-0.400975	0.33271	T	0.216398047653528	0.21283	T	0.844715	0.52235	T	0.2873499	0.51746	0.19588417	0.43290	0.2873499	0.51746	0.19588417	0.43289	-1.608	0.02000	T	.	.	0.110	0.21011	B	.;.	.;.	4.434099	0.68789	25.3	0.99879232730868495	0.95572	0.85238	0.44353	D	AEFDGBI	0.262312	0.38008	N	0.424954393583174	0.62798	4.50179	0.409795425132791	0.62173	4.428534	0.999999898410487	0.74766	0.625279	0.40028	0	0.588066	0.40923	0	0.602189	0.34648	0	0.59522	0.37078	0	.	.	4.42	4.42	0.52775	2.362000	0.43823	7.633000	0.62825	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.193:0.0:0.807:0.0	6.580	0.21783	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1331.83	57	chr15	43526584	.	G	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.6;DP=345;ExcessHet=0;FS=2.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.42;SOR=0.777	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,105,1690	5	0	1	0
chr15	43527561	43527561	A	G	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.A6088G:p.T2030A	.	.	.	.	.	.	.	.	.	.	.	2786602	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00204354093508	8.1e-05	.	8.318e-06	0	0	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs376325123	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0010	8.31e-06	6.7e-06	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	8.993e-06	3.312e-05	0	6.583e-06	6.569e-06	0	1.348e-05	6.56e-05	0	0	.	.	0	0	6.56e-05	0	0	0	0	0	0	0	0.294	0.14793	T	0.347	0.17640	T	0.02	0.18235	B	0.008	0.13708	B	0.003503	0.34847	N	0.000000	0.931351	0.27048	N	1.5	0.37844	L	4.87	0.01449	T	0.01	0.06868	N	0.137	0.13484	-0.9684	0.37530	T	0.005	0.01833	T	10	0.054602593	0.05839	T	0.002044	0.03721	T	0.044	0.11924	.	.	0.2338531098	0.23012	0.40229324354765755	0.40145	0.189362932631	0.21250	0.359354734421	0.19291	T	0.043892	0.26645	T	-0.25393	0.13620	T	-0.60253	0.12600	T	0.0625228359148992	0.07561	T	0.49745	0.15470	T	0.049760517	0.08885	0.05296974	0.08833	0.049760517	0.08885	0.05296974	0.08832	-3.235	0.12914	T	.	.	0.089	0.11989	B	.;.	.;.	1.832994	0.23289	15.96	0.87198033083123494	0.17057	0.62884	0.31918	D	AEFDBI	0.077271	0.15565	N	-0.382129601079528	0.26106	1.422226	-0.253253251592708	0.29660	1.66348	0.99999362438039	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.9	3.78	0.42629	1.274000	0.32736	4.566000	0.43861	0.756000	0.94297	0.965000	0.33920	1.000000	0.68203	0.994000	0.71098	0.8985:0.0:0.1015:0.0	6.990	0.23929	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1385.83	116	chr15	43527561	.	A	G	1385.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.303;DP=328;ExcessHet=0;FS=1.509;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.025;SOR=0.517	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,105,1690	5	0	1	0
chr15	43528837	43528837	C	T	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.C7364T:p.P2455L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.04740422722	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540588007	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.066	0.44501	T	0.97	0.56973	D	0.88	0.62516	P	.	.	.	.	1	0.81001	D	2.625	0.76847	M	3.75	0.03951	T	-3.6	0.72240	D	0.702	0.70615	-1.1298	0.01792	T	0.032	0.13592	T	9	0.51786256	0.62470	D	0.047404	0.62906	D	0.309	0.63055	0.238	0.16912	0.134007934775	0.12933	0.4825560653929139	0.48175	0.758043564616	0.64103	0.648653566837	0.59794	T	0.264215	0.63596	T	0.053769	0.58826	T	-0.160541	0.58304	T	0.990996087173721	0.81240	D	0.853715	0.53946	D	0.34182122	0.56424	0.3487878	0.60514	0.34182122	0.56424	0.3487878	0.60513	-3.343	0.14298	T	.	.	0.221	0.45224	B	.;.	.;.	4.283940	0.65277	24.8	0.99634433528410926	0.76264	0.98269	0.81111	D	AEFDBCI	0.897227	0.83917	D	0.568444170652562	0.71211	5.616657	0.572557729714271	0.72979	5.896058	0.999999999999998	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.63	4.63	0.57175	7.663000	0.82798	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	17.672	0.88127	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1463.83	37	chr15	43528837	.	C	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.717;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.929;SOR=0.665	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1474,0,2137	5	0	1	0
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H,CKMT1B:NM_020990:exon10:c.G1196A:p.R399H	.	419	1059	43	1	0	45	0.0208044	.	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.000000	0.006793	0.020468	0.000000	0.008621	0.018293	0.034091	0.08333	1057.83	33	chr15	43599215	.	G	A	1057.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.465;DP=315;ExcessHet=0;FS=2.537;MLEAC=1;MLEAF=0.083;MQ=55.06;MQRankSum=-0.02;QD=9.53;ReadPosRankSum=0.967;SOR=0.445	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	48.83	69	chr15	43600624	.	C	A	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=483;ExcessHet=0;FS=5.714;MLEAC=1;MLEAF=0.083;MQ=58.41;MQRankSum=-9.118;QD=0.52;ReadPosRankSum=-0.163;SOR=1.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:116,0:116:99:.:.:0,120,1800:.	5	0	1	0
chr15	43600906	43600906	C	G	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon25:c.G4810C:p.E1604Q	Deafness, autosomal recessive 16, Autosomal recessive	8	1496	16	2	0	20	0.00664011	.	.	.	2367230	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.173338599262	7.7e-05	.	0.0002	0.0001	0.0002	0	0	0.0002	0.0011	0.0007	0.0001876	29	154602	rs193034976	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0003	0	5.039e-05	0	0.0047	7.645e-05	0.0005	0.0009	8.61e-05	8.542e-05	7.759e-05	9.504e-05	0.0004	4.995e-05	3.992e-05	8.923e-05	5.417e-05	4.893e-05	0	0.0003	0	0	0	0	7.374e-05	0	0.0004	0.067	0.35918	T	0.057	0.46406	T	0.844	0.62325	P	0.528	0.59919	P	0.106447	0.19614	N	0.475055	1	0.81001	D	.	.	.	-1.17	0.78199	T	-0.83	0.22944	N	0.387	0.45047	-0.4511	0.70364	T	0.397	0.74951	T	10	0.23735124	0.40835	T	0.173339	0.85006	D	0.206	0.49396	.	.	0.795319321131	0.79341	0.19506635889689938	0.19424	.	.	0.584268093109	0.50686	T	0.05702	0.30451	T	-0.30102	0.08563	T	-0.302578	0.44452	T	0.071591013011756	0.08873	T	0.805819	0.45382	T	0.16722868	0.37107	0.0865275	0.20051	0.16722868	0.37107	0.0865275	0.20051	-4.418	0.29800	T	0.5105695755445007	0.58438	0.131	0.28232	B	.;.	.;.	4.552980	0.71668	25.7	0.9975587966031535	0.84615	0.78800	0.38933	D	AEFGBI	0.624919	0.60831	D	0.227568560519406	0.52539	3.42742	0.27058083464517	0.53828	3.550048	0.0116965623771096	0.12222	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	3.485000	0.52972	5.831000	0.50164	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.856	0.69972	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	885.83	69	chr15	43600906	.	C	G	885.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.239;DP=407;ExcessHet=0;FS=4.138;MLEAC=1;MLEAF=0.083;MQ=54.68;MQRankSum=-1.119;QD=9.84;ReadPosRankSum=0.952;SOR=0.368	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	5	0	1	0
chr15	43614297	43614297	G	T	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon6:c.C2212A:p.P738T	Deafness, autosomal recessive 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.140820242711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	1	0.81001	D	.	.	.	-1.77	0.83660	D	-2.54	0.55025	D	0.559	0.58373	0.274	0.87135	D	0.591	0.85360	D	10	0.7437157	0.75138	D	0.14082	0.82326	D	0.516	0.79340	0.445	0.50302	0.913952512674	0.91309	0.5373471694038021	0.53659	.	.	0.751072764397	0.74604	T	0.232225	0.59873	T	0.0956903	0.63824	D	-0.100324	0.63373	T	0.944799900054932	0.62133	D	0.835616	0.51030	T	0.5629836	0.70674	0.53227305	0.72973	0.5629836	0.70676	0.53227305	0.72974	-6.768	0.52321	T	0.6861523775254249	0.76323	0.392	0.59103	A	.;.	.;.	4.561747	0.71894	25.7	0.99642560854695683	0.76756	0.95944	0.66832	D	AEFI	0.641587	0.61887	D	0.578570789444664	0.71838	5.712197	0.573747125866061	0.73064	5.909678	0.995178111309716	0.33988	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.59	4.59	0.56297	4.857000	0.62639	5.888000	0.50725	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.994	0.71074	8	0.99202	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	129.8	.	chr15	43614297	.	G	T	129.8	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.151;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=27;MQRankSum=0;QD=7.64;ReadPosRankSum=-1.51;SOR=0.293	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,279	4	0	1	1
chr15	43647354	43647354	G	C	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon3:c.C277G:p.L93V,CATSPER2:NM_172095:exon3:c.C259G:p.L87V,CATSPER2:NM_001282309:exon4:c.C259G:p.L87V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00243255626549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.08534	T	0.213	0.26549	T	0.077	0.26866	B	0.045	0.30390	B	0.368706	0.13560	N	0.527164	1	0.08975	N	2.36	0.67893	M	1.01	0.41058	T	-0.34	0.15986	N	0.265	0.33469	-1.0415	0.16860	T	0.096	0.36159	T	10	0.080896795	0.13182	T	0.002433	0.04785	T	0.025	0.05312	0.419	0.46036	0.268660756437	0.26461	0.3428325194606062	0.34196	0.264545597139	0.29001	0.501075148582	0.38979	T	0.033955	0.23128	T	-0.220856	0.17877	T	-0.555021	0.16847	T	0.131939588268337	0.15560	T	0.654634	0.26482	T	0.037492476	0.04818	0.02727005	0.00867	0.037492476	0.04817	0.02727005	0.00867	-4.323	0.28540	T	.	.	0.127	0.29394	B	.;.;.	.;.;.	0.557048	0.09254	6.038	0.70538219939313518	0.09328	0.03353	0.08440	N	AEFGBI	0.056418	0.10429	N	-0.966861337543713	0.09318	0.4405011	-1.07473700556886	0.08200	0.4021268	0.00235346445358995	0.09349	0.651	0.46895	0	0.633563	0.54681	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	3.29	1.35	0.21078	0.491000	0.22128	2.056000	0.30370	-0.642000	0.04431	0.043000	0.21118	0.985000	0.30750	0.080000	0.17246	0.264:0.0:0.736:0.0	5.727	0.17288	7	0.99271	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	38.74	34	chr15	43647354	.	G	C	38.74	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.282;DP=407;ExcessHet=0;FS=92.824;MLEAC=1;MLEAF=0.125;MQ=55.28;MQRankSum=-0.726;QD=0.43;ReadPosRankSum=-0.683;SOR=7.111	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1055	3	0	1	2
chr15	45108074	45108074	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon13:c.G1547A:p.R516H,DUOX2:NM_014080:exon13:c.G1547A:p.R516H	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1354268	not_specified|not_provided|Thyroid_dyshormonogenesis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	0.164244919683	0.0003	0.000599042	0.0001	0.0011	0	0	0	4.5e-05	0	0	0.0001294	20	154602	rs143818717	4.994e-05	4.994e-05	5.99e-05	3.988e-05	0.0012	4.059e-05	3.734e-05	0.0009	0.0008	0.0012	8.944e-05	0	2.519e-05	0	0	2.068e-05	6.623e-05	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0003	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	0.000000	0.84330	D	0.000000	1	0.81001	D	3.725	0.94815	H	-1.21	0.78645	T	-4.53	0.78388	D	0.899	0.91852	0.496	0.90491	D	0.625	0.86796	D	9	0.5373441	0.63523	D	0.164245	0.84340	D	0.672	0.87868	.	.	0.916113025476	0.91527	0.8284642214615898	0.82804	0.410623561839	0.41840	0.734249830246	0.72128	T	0.344819	0.90463	T	0.139235	0.68253	D	0.358402	0.90642	D	0.748047471046448	0.43177	D	0.945705	0.79334	D	0.92579263	0.93817	0.8077276	0.88756	0.92579263	0.93818	0.8077276	0.88757	-8.24	0.62694	D	0.8197985288597882	0.89302	0.339	0.55849	B	.;.	.;.	5.374884	0.90099	31	0.99946602041513988	0.99913	0.98951	0.89073	D	AEFDBI	0.935788	0.93115	D	1.012471904488	0.96115	14.31881	0.932119310237094	0.96826	15.19865	0.999999999999411	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	7.708000	0.83603	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.321	0.90178	596	0.68392	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase 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	.	.	.	.	.	.	.	.	0.08333	847.83	33	chr15	45108074	.	C	T	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.872;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.77;SOR=0.641	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1244	5	0	1	0
chr15	45117717	45117717	C	T	exonic	DUOXA1;DUOXA2	.	nonsynonymous SNV	DUOXA1:NM_001276265:exon7:c.G1115A:p.R372H,DUOXA1:NM_001276264:exon11:c.G1250A:p.R417H,DUOXA1:NM_144565:exon11:c.G1250A:p.R417H	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0849638014385	.	.	8.266e-06	0	0	0	0	0	0	6.104e-05	6.5e-06	1	154602	rs766823135	4.107e-06	4.104e-06	4.085e-06	4.129e-06	2.32e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	2.7e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.099	0.38891	T	0.474	0.36620	P	0.047	0.24832	B	.	.	.	.	1	0.81001	D	.	.	.	0.53	0.61326	T	0.2	0.04861	N	0.124	0.20793	-0.9621	0.38781	T	0.112	0.40145	T	8	0.10206124	0.18684	T	0.084964	0.74434	D	0.230	0.53062	0.247	0.18293	0.368369118721	0.36443	0.2125027745191685	0.21166	0.338732872668	0.35836	0.278492689133	0.07283	T	.	.	.	-0.134525	0.30765	T	-0.249484	0.49867	T	0.144928966341349	0.16692	T	0.467953	0.13790	T	.	.	.	.	.	.	.	.	-5.043	0.37304	T	.	.	0.088	0.17488	B	.;.;.;.	.;.;.;.	1.153478	0.15417	11.83	0.98814104557277493	0.46672	0.50098	0.28584	D	AEFBCI	0.146593	0.27008	N	-0.446303591525871	0.23866	1.284643	-0.417843358155879	0.24473	1.340353	0.990328979882761	0.32115	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.46	0.87	0.18239	0.447000	0.21428	-0.403000	0.09398	-0.214000	0.08267	0.778000	0.29449	0.000000	0.08366	0.484000	0.28656	0.0:0.3956:0.5068:0.0976	7.553	0.26978	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	770.83	39	chr15	45117717	.	C	T	770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.983;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.39;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1187	5	0	1	0
chr15	45187858	45187858	C	A	exonic	SHF	.	nonsynonymous SNV	SHF:NM_001301168:exon1:c.G94T:p.A32S,SHF:NM_001301169:exon1:c.G94T:p.A32S,SHF:NM_001301170:exon1:c.G94T:p.A32S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128619635388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.539e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.172	0.31225	T	.	.	.	.	.	.	.	.	.	.	1	0.22611	N	.	.	.	0.79	0.80983	T	-0.09	0.08340	N	0.113	0.10056	.	.	.	.	.	.	.	0.12535834	0.23821	T	0.12862	0.81058	D	.	.	.	.	0.849901322559	0.84845	.	.	.	.	.	.	.	0.039883	0.25342	T	-0.0964081	0.37019	T	-0.37626	0.36159	T	.	.	.	0.49655	0.15423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06250	B	.;.;.	.;.;.	0.930545	0.13055	9.561	0.91679091814364733	0.20970	0.14258	0.18307	N	AEFDBHCIJ	0.056733	0.10511	N	.	.	.	.	.	.	0.999999941418389	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.7	-0.336	0.12030	-1.924000	0.01657	-0.403000	0.09398	-0.405000	0.05282	0.000000	0.06391	0.115000	0.22839	0.958000	0.51230	0.0:0.4698:0.0:0.5302	6.081	0.19166	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	37.79	4	chr15	45187858	.	C	A	37.79	.	AC=2;AF=0.333;AN=6;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=18.9;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	3
chr15	50301220	50301220	C	A	splicing	GABPB1	NM_005254:exon5:c.619+1G>T;NM_001320915:exon6:c.619+1G>T;NM_001320910:exon6:c.619+1G>T;NM_002041:exon5:c.619+1G>T	.	.	.	425	1055	39	3	0	45	0.0208817	1.0000	0.938	.	2817570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.00219649	0.0038	0.0016	0.0020	0	0	0.0044	0.0079	0.0072	0.0035058	542	154602	rs80042819	0.0035	0.0035	0.0033	0.0036	0.0115	0.0034	0.0033	0.0093	0.0084	0.0021	0.0030	0.0122	2.521e-05	0.0002	0.0115	0.0033	0.0038	0.0070	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0032	0.0030	0.0023	0.0022	0.0029	0.0072	0.0002	9.418e-05	0.0136	0.0036	0.0047	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0724187	0.61142	D	0.334834	0.89709	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.696742	0.75312	26.3	0.99276755404042938	0.57765	0.98054	0.79209	D	AEFBI	.	.	.	1.01461228058669	0.96177	14.38738	0.855504721223187	0.93334	11.97405	0.99392507945788	0.33413	0.156188	0.03335	0	0.156173	0.03658	0	0.121303	0.03266	0	0.126568	0.03934	0	0.976	0.78573	5.17	5.17	0.70848	1.906000	0.39518	4.004000	0.41101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9179:0.0:0.0821	11.681	0.50721	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1032.83	33	chr15	50301220	.	C	A	1032.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=266;ExcessHet=0;FS=0.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-2.315;SOR=0.543	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	5	0	1	0
chr15	50632919	50632919	C	T	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon9:c.G1081A:p.A361T,TRPM7:NM_017672:exon9:c.G1081A:p.A361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.014782368737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450943095	1.381e-06	2.052e-06	0	2.775e-06	1.188e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.034e-07	0	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.981	0.59675	D	0.704	0.54300	P	0.000001	0.62929	D	0.056150	1	0.81001	D	1.575	0.39704	L	1.71	0.26737	T	-1.86	0.43524	N	0.692	0.73826	-0.9796	0.35094	T	0.124	0.42736	T	10	0.53174496	0.63223	D	0.014782	0.35118	T	0.220	0.51569	0.467	0.53891	0.445614145163	0.44183	0.6056999606120872	0.60500	0.385891351295	0.39878	0.661958098412	0.61689	T	0.554541	0.84977	D	0.0387526	0.56881	T	-0.182111	0.56327	T	0.876106917858124	0.52598	D	0.89801	0.64352	D	0.26852235	0.49924	0.24354072	0.49799	0.26852235	0.49924	0.24354072	0.49798	-6.81	0.52633	T	.	.	0.504	0.64750	A	.;.;.	.;.;.	4.799410	0.77971	26.8	0.99837411731673387	0.91800	0.98521	0.83668	D	AEFBI	0.730147	0.67763	D	0.680384661679726	0.78347	6.853252	0.687355424195683	0.81417	7.522028	0.999999999999993	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.29	5.29	0.74430	3.949000	0.56377	4.879000	0.45646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.126	0.93369	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	72.7	70	chr15	50632919	.	C	T	72.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.234;DP=241;ExcessHet=0;FS=142.191;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.85;SOR=7.111	GT:AD:DP:GQ:PL	0/0:32,0:39:88:0,88,728	4	0	1	1
chr15	51474379	51474379	A	G	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon25:c.T5156C:p.V1719A,DMXL2:NM_001174117:exon26:c.T5267C:p.V1756A,DMXL2:NM_001378464:exon27:c.T6935C:p.V2312A,DMXL2:NM_001174116:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378457:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378458:exon28:c.T7175C:p.V2392A,DMXL2:NM_001378459:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378461:exon28:c.T7178C:p.V2393A,DMXL2:NM_001378462:exon28:c.T7175C:p.V2392A,DMXL2:NM_001378463:exon28:c.T7178C:p.V2393A,DMXL2:NM_015263:exon28:c.T7175C:p.V2392A	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00486516474695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.17126	T	0.299	0.20422	T	0.006	0.13644	B	0.014	0.16862	B	0.000025	0.55875	D	0.118665	0.996119	0.43025	D	0.95	0.23787	L	2.04	0.23486	T	-1.43	0.36980	N	0.577	0.59901	-1.1171	0.02524	T	0.055	0.23072	T	10	0.23746762	0.40848	T	0.004865	0.12192	T	0.109	0.30843	0.312	0.28612	0.043077524339	0.03247	0.3168735961979606	0.31600	0.282826410038	0.30739	0.430783361197	0.29316	T	0.025889	0.19267	T	-0.116802	0.33647	T	-0.405554	0.32739	T	0.808065712451935	0.46911	D	0.915108	0.69728	D	0.14230023	0.32754	0.17005937	0.39087	0.14230023	0.32754	0.17005937	0.39087	-3.225	0.12976	T	.	.	0.191	0.41063	B	.;.;.	.;.;.	3.836860	0.55501	23.6	0.97854621322084234	0.36418	0.99768	0.99325	D	AEFBI	0.933126	0.92452	D	0.092942856613802	0.46134	2.85854	0.285323083012815	0.54680	3.632439	0.999995993195496	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	8.947000	0.92735	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.520	0.75592	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	465.83	42	chr15	51474379	.	A	G	465.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=217;ExcessHet=0;FS=1.472;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-2.112;SOR=1.154	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1019	5	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	48.55	43	chr15	51480616	.	G	C	48.55	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3;DP=390;ExcessHet=0.4139;FS=408.533;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.84;SOR=8.468	GT:AD:DP:GQ:PL	./.:36,0:36:0:0,0,975	1	0	2	3
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2518.06	34	chr15	55672580	.	C	G	2518.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.224;DP=281;ExcessHet=0.4139;FS=1.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.58;SOR=0.875	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1050,0,639	4	0	2	0
chr15	57439095	57439095	C	T	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon2:c.C1096T:p.L366F,CGNL1:NM_001252335:exon3:c.C1096T:p.L366F	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00487336658646	0.0015	0.000599042	0.0025	0.0004	0.0022	0	0.0003	0.0036	0.0011	0.0017	0.0023544	364	154602	rs144676801	0.0021	0.0021	0.0021	0.0022	0.0064	0.0021	0.0020	0.0048	0.0042	0.0003	0.0023	0.0025	0	0.0005	0.0064	0.0023	0.0019	0.0017	0.0018	0.0018	0.0018	0.0019	0.0030	0.0017	0.0016	0.0024	0.0023	0.0005	0	0.0030	0.0023	0	0.0008	0.0034	0.0027	0.0024	0.0012	0.74	0.03696	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.780602	0.09474	N	0.879962	1	0.08975	N	1.95	0.52479	M	0.96	0.42888	T	-0.91	0.24460	N	0.25	0.28264	-0.9984	0.30367	T	0.050	0.21104	T	10	0.0061624944	0.00139	T	0.004873	0.12224	T	0.124	0.34239	.	.	0.124217242631	0.12060	0.07299204615345675	0.07236	0.0186665029899	0.01818	0.303619533777	0.10943	T	0.005822	0.05268	T	-0.592545	0.00162	T	-0.6202	0.11170	T	0.00207451897908475	0.00021	T	0.544846	0.18617	T	0.05186482	0.09589	0.042902105	0.05217	0.05186482	0.09588	0.042902105	0.05217	-5.178	0.38718	T	.	.	0.077	0.06433	B	.	.	1.445934	0.18663	13.86	0.70581129268266674	0.09342	0.09425	0.15183	N	AEFGBI	0.125224	0.24164	N	-0.772905407941522	0.14020	0.6950107	-0.670913409563666	0.17690	0.9417339	0.960372022471038	0.28485	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.7	2.4	0.28568	0.764000	0.26197	0.315000	0.17124	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.868000	0.41282	0.2539:0.3964:0.2403:0.1094	2.733	0.04910	478	0.77585	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.012195	0.007576	0.08333	2162.83	129	chr15	57439095	.	C	T	2162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.844;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-0.137;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	5	0	1	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase 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	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.08333	1907.83	155	chr15	58772221	.	C	T	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.399;DP=332;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.746;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	5	0	1	0
chr15	58787930	58787930	A	G	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon2:c.A865G:p.I289V,MINDY2:NM_001040453:exon2:c.A865G:p.I289V	.	.	.	.	.	.	.	.	.	.	.	2789097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.00791395630175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.09572	T	0.902	0.03047	T	0.083	0.24734	B	0.089	0.29769	B	0.000000	0.84330	D	0.047442	0.975554	0.39199	D	.	.	.	1.02	0.41058	T	-0.13	0.08971	N	0.483	0.51761	-1.0094	0.27105	T	0.035	0.15030	T	10	0.15932524	0.29939	T	0.007914	0.20981	T	0.177	0.44549	0.359	0.36222	0.243398259712	0.23965	0.25412982995278766	0.25326	0.224310002759	0.24958	0.733025848866	0.71948	T	0.008698	0.07968	T	-0.155761	0.27415	T	-0.461516	0.26434	T	0.851219654083252	0.50271	D	0.90081	0.65538	D	0.08959567	0.20938	0.07480433	0.16403	0.08959567	0.20938	0.07480433	0.16402	-6.17	0.47679	T	.	.	0.462	0.62796	A	.;.	.;.	3.027608	0.40545	21.2	0.94045074246421256	0.24169	0.94974	0.62981	D	AEFBI	0.595599	0.59009	D	-0.381094780452887	0.26144	1.424538	-0.0925550006951347	0.35698	2.068307	0.914737894640441	0.26462	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	5.17	0.70848	5.436000	0.66287	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.826	0.57102	921	0.19240	MINDY deubiquitinase 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	.	.	.	.	.	.	.	.	0.08333	76.83	18	chr15	58787930	.	A	G	76.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.27;ReadPosRankSum=1.68;SOR=0.934	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,544	5	0	1	0
chr15	59207760	59207760	G	A	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.G820A:p.E274K	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00688886488605	0.0002	.	0.0001	9.643e-05	8.639e-05	0	0	8.991e-05	0.0011	0.0003	0.0001035	16	154602	rs139039522	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.767e-05	0.0008	0.0006	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0016	0.0001	0.0002	0.0002	8.536e-05	8.53e-05	0.0001	5.372e-05	0.0002	4.954e-05	3.96e-05	3.762e-05	2.575e-05	7.219e-05	0	0	0.0003	0	0	0.0034	8.82e-05	0.0005	0.0002	0.013	0.53900	D	0.047	0.48855	D	0.715	0.42183	P	0.328	0.42011	B	0.000207	0.47681	U	0.082682	0.721462	0.41861	D	2.595	0.75868	M	-0.17	0.65563	T	-3.61	0.69477	D	0.265	0.30004	-0.6550	0.62495	T	0.243	0.61189	T	10	0.21238846	0.37697	T	0.006889	0.18233	T	0.206	0.49396	.	.	0.761536124161	0.75936	0.1852540010845516	0.18443	0.153955886839	0.17378	0.299728572369	0.10360	T	0.329145	0.69947	T	-0.246516	0.14529	T	-0.291556	0.45609	T	0.683473885059357	0.39947	D	0.911709	0.68653	D	0.49668545	0.66900	0.3802823	0.63064	0.49668545	0.66901	0.3802823	0.63063	-9.699	0.72090	D	.	.	0.156	0.34602	B	.	.	3.331073	0.45857	22.2	0.99803039434087959	0.88728	0.55191	0.29802	D	AEFDGBI	0.074420	0.14916	N	-0.0752485925443455	0.38481	2.254408	-0.240721266800653	0.30092	1.691394	0.994592287310703	0.33711	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	1.47	1.47	0.21832	2.886000	0.48276	5.663000	0.49226	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.245:0.0:0.755:0.0	3.857	0.08489	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1198.83	74	chr15	59207760	.	G	A	1198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=263;ExcessHet=0;FS=4.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.164;SOR=1.306	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1228	5	0	1	0
chr15	59618702	59618702	C	G	exonic	GCNT3	.	nonsynonymous SNV	GCNT3:NM_004751:exon3:c.C464G:p.A155G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0114648947771	.	.	8.24e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749201782	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.139	0.33666	T	0.958	0.54977	D	0.657	0.52725	P	0.000249	0.46924	D	0.223513	0.997945	0.44345	D	3.14	0.88230	M	2.78	0.11298	T	-2.13	0.48354	N	0.418	0.45803	-1.0990	0.04214	T	0.051	0.21883	T	10	0.36899155	0.53326	T	0.011465	0.29107	T	0.161	0.41658	0.612	0.74535	0.430351802785	0.42654	0.4832345367188522	0.48243	.	.	0.284675449133	0.08153	T	0.240892	0.60930	T	-0.162218	0.26420	T	-0.470791	0.25432	T	0.915435016155243	0.57246	D	0.777622	0.41060	T	0.5749586	0.71333	0.6555911	0.79835	0.5749586	0.71334	0.6555911	0.79836	-9.349	0.69915	D	.	.	0.192	0.41187	B	.;.	.;.	2.927041	0.38873	20.8	0.99673456959630102	0.78717	0.69797	0.34331	D	AEFDGBI	0.599560	0.59253	D	0.126900675035129	0.47720	2.993818	0.0503265112384819	0.42088	2.53963	0.999999973198649	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.16	3.06	0.34374	1.770000	0.38162	1.366000	0.25918	0.599000	0.40250	0.014000	0.18986	0.718000	0.26334	0.857000	0.40602	0.0:0.7907:0.0:0.2093	11.114	0.47469	897	0.25382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr15	59618702	.	C	G	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.951;DP=298;ExcessHet=0;FS=4.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.937;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	5	0	1	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.1667	1216.06	33	chr15	60466706	.	T	C	1216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=199;ExcessHet=0.4139;FS=2.147;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.964;SOR=1.091	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1080	4	0	2	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1667	1544.06	48	chr15	62164783	.	C	G	1544.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.507;DP=272;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.35;SOR=0.728	GT:AD:DP:GQ:PL	0/1:28,24:52:99:570,0,660	4	0	2	0
chr15	62164890	62164890	T	A	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.A95T:p.E32V	.	417	1104	1	0	0	1	0.000452694	.	.	.	2364836	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.510673150499	.	.	0.0004	0	0	0	0	0.0011	0	0	4.53e-05	7	154602	rs773060562	1.091e-05	1.436e-05	8.617e-06	1.326e-05	0.0027	6.55e-06	5.19e-06	0.0016	0.0012	0	0	0	0	0	0.0027	0	5.25e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.98	0.59353	D	0.898	0.63708	P	0.000118	0.50451	U	0.131102	0.999463	0.47157	D	2.455	0.71248	M	-3.01	0.92208	D	-5.72	0.87531	D	0.321	0.36148	0.758	0.93896	D	0.821	0.93983	D	10	0.4246547	0.57093	T	0.510673	0.95296	D	0.661	0.87332	0.324	0.30549	0.955261737429	0.95479	0.26389553150037376	0.26302	2.08176540196	0.94631	0.702376008034	0.67488	T	0.138889	0.47263	T	-0.00347201	0.51175	T	-0.0504281	0.66994	D	0.743445694446564	0.42924	D	0.805019	0.45286	T	0.70088255	0.78105	0.5861439	0.75998	0.70088255	0.78106	0.5861439	0.75999	-3.3	0.13737	T	.	.	0.436	0.61485	A	.	.	4.602163	0.72904	25.9	0.99068138890681712	0.51645	0.89502	0.50008	D	AEFDBCIJ	0.697107	0.65523	D	0.475785093926305	0.65679	4.852966	0.374074564887028	0.59972	4.179774	0.999972486401685	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.56214	0.19341	0	.	.	4.05	2.82	0.32061	3.762000	0.54962	3.779000	0.39783	0.576000	0.29215	0.848000	0.30412	0.999000	0.35428	0.872000	0.41544	0.0:0.0:0.1643:0.8356	10.292	0.42784	277	0.89083	.	.	.	.	.	.	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	1477.83	112	chr15	62164890	.	T	A	1477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=310;ExcessHet=0;FS=2.451;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.29;SOR=1.011	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1353	5	0	1	0
chr15	63277702	63277702	A	G	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon1:c.A79G:p.T27A,APH1B:NM_031301:exon1:c.A79G:p.T27A	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0032	.	0.0075	0.0088	0.0010	0.0008	0	0.0002	0.0045	0.0469	0.0060543	936	154602	rs77834210	0.0033	0.0033	0.0019	0.0047	0.0477	0.0032	0.0032	0.0465	0.0460	0.0105	0.0008	0	0.0006	0	0.0037	6.932e-05	0.0031	0.0477	0.0039	0.0039	0.0033	0.0045	0.0409	0.0036	0.0035	0.0362	0.0343	0.0089	0	0.0007	0	0.0010	0	0	0.0001	0.0010	0.0409	0.781	0.03502	T	0.765	0.04720	T	0.309	0.32767	B	0.138	0.33406	B	0.144870	0.18164	N	0.534132	1	0.08975	N	1.15	0.29295	L	1.02	0.40749	T	-0.68	0.21644	N	0.121	0.17553	-0.9548	0.40131	T	0.037	0.15986	T	10	0.004338473	0.00088	T	.	.	.	0.060	0.17295	.	.	0.318828661733	0.31499	0.5982668244239652	0.59757	0.0506069336894	0.05561	0.485664904118	0.36839	T	0.217466	0.59758	T	-0.630946	0.00094	T	-0.644049	0.09376	T	0.0137065299767312	0.00256	T	0.481052	0.23055	T	0.048443705	0.08443	0.042859226	0.05200	0.048443705	0.08442	0.042859226	0.05199	-3.178	0.12214	T	.	.	0.063	0.02200	B	.;.;.	.;.;.	1.153437	0.15417	11.83	0.64135047455837091	0.07411	0.05622	0.11530	N	ALL	0.056276	0.10389	N	-1.12320934240402	0.06232	0.2863324	-1.24691817728504	0.05177	0.2460357	0.999999995815747	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.11	-5.69	0.02233	0.513000	0.22476	2.146000	0.30877	0.550000	0.28109	0.003000	0.16062	0.781000	0.26780	0.690000	0.33838	0.2152:0.132:0.2663:0.3865	0.736	0.00904	844	0.36711	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	433.83	47	chr15	63277702	.	A	G	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.42;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1065	5	0	1	0
chr15	63305632	63305632	T	C	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon5:c.T502C:p.Y168H,APH1B:NM_031301:exon6:c.T625C:p.Y209H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0200730242816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.50132	D	0.006	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.83	0.82355	M	0.95	0.43279	T	-4.24	0.76015	D	0.253	0.35620	-0.5600	0.66404	T	0.269	0.64034	T	10	0.96512383	0.95980	D	0.020073	0.42586	T	0.487	0.77528	0.936	0.99075	0.676123130162	0.67337	0.6530591540569206	0.65241	0.13876508777	0.15646	0.488448679447	0.37223	T	0.325541	0.82333	T	0.0552157	0.59011	T	-0.158463	0.58490	T	0.995865106582642	0.88213	D	0.680832	0.28956	T	0.39659306	0.60496	0.31133705	0.57141	0.39659306	0.60496	0.31133705	0.57140	-4.845	0.35111	T	.	.	0.094	0.35077	B	.;.;.	.;.;.	3.947184	0.57797	23.9	0.99563025871799471	0.71892	0.93651	0.58804	D	AEFBI	0.440070	0.49879	N	0.390602554580698	0.60913	4.285611	0.243592602924973	0.52284	3.404435	0.999999957157898	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	4.793000	0.62168	3.423000	0.38265	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.0:0.0:1.0	11.236	0.48168	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	523.83	33	chr15	63305632	.	T	C	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.772;DP=218;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.25;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	5	0	1	0
chr15	63305771	63305771	G	A	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon5:c.G641A:p.R214H,APH1B:NM_031301:exon6:c.G764A:p.R255H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0126351566441	.	.	1.655e-05	0	8.658e-05	0	0	0	0	6.141e-05	1.29e-05	2	154602	rs777058419	1.095e-05	1.163e-05	6.808e-06	1.513e-05	3.481e-05	6.48e-06	5.25e-06	9.25e-06	4.56e-06	2.99e-05	2.241e-05	0	0	0	0	9.893e-06	0	3.481e-05	1.314e-05	1.314e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000005	0.62929	D	0.060836	0.999937	0.53665	D	2.47	0.71715	M	0.65	0.55266	T	-1.55	0.42001	N	0.224	0.55193	-0.5167	0.68039	T	0.286	0.65744	T	10	0.20211396	0.36320	T	0.012635	0.31371	T	0.214	0.50650	0.364	0.37036	0.893571130642	0.89252	0.48417106345959837	0.48337	0.0721561855387	0.08090	0.511343061924	0.40410	T	0.330714	0.70087	T	0.117533	0.66124	D	0.11258	0.77743	D	0.829352796077728	0.48480	D	0.866813	0.56740	D	0.36656192	0.58330	0.23024379	0.48120	0.36656192	0.58330	0.23024379	0.48119	-3.926	0.25379	T	.	.	0.089	0.26357	B	.;.	.;.	4.203584	0.63450	24.6	0.99944598841481891	0.99868	0.97675	0.76331	D	AEFBI	0.544473	0.55938	D	0.720730987254825	0.80992	7.418763	0.712991252429362	0.83363	8.002617	0.999999999994901	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	5.091000	0.64338	3.898000	0.40333	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	14.547	0.67627	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	191.83	33	chr15	63305771	.	G	A	191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.392;DP=182;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.166;SOR=1.356	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,909	5	0	1	0
chr15	65076532	65076532	G	A	exonic	RASL12	.	stopgain	RASL12:NM_001379429:exon1:c.C67T:p.R23X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs762030544	4.017e-05	3.466e-05	3.183e-05	4.723e-05	0.0002	2.628e-05	2.244e-05	0.0001	8.719e-05	0	2.916e-05	0	0	0	0	1.266e-05	0.0002	0.0002	3.942e-05	3.94e-05	0	8.071e-05	0.0002	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0.0002	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0769416	0.61681	D	0.0710619	0.74980	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.217587	0.97308	37	0.99539310489757027	0.70398	0.06249	0.12239	N	AEFBIJ	0.049015	0.08423	N	-0.47389133572303	0.22938	1.228344	-0.646623630063832	0.18302	0.9770904	0.0167346138333663	0.12866	0.59774	0.34471	0	0.547309	0.14657	0	0.514364	0.09456	0	0.63947	0.58350	0	.	.	.	.	.	0.798000	0.26674	0.097000	0.14596	0.098000	0.17617	0.995000	0.38783	0.291000	0.24165	0.447000	0.27828	.	.	.	315	0.87208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	334.83	34	chr15	65076532	.	G	A	334.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-1.685;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1385	5	0	1	0
chr15	65335889	65335889	C	G	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon3:c.G477C:p.Q159H	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0524302053619	.	0.000798722	0.0009	0	8.639e-05	0	0	0	0	0.0065	0.0007309	113	154602	rs557557266	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0003	0.0058	0.0056	0	0	0	2.519e-05	0	0.0005	1.799e-06	0.0003	0.0062	0.0002	0.0002	6.424e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.915	0.23335	L	-0.31	0.68030	T	-2.57	0.64710	D	0.839	0.83473	-0.2385	0.76665	T	0.384	0.73958	T	10	0.021343976	0.00509	T	0.05243	0.65069	D	0.502	0.78475	0.687	0.82462	0.894168933668	0.89311	0.5886309699603336	0.58793	0.74872460195	0.63655	0.619669675827	0.55682	T	0.54465	0.84471	D	-0.139028	0.30045	T	0.0304089	0.72304	D	0.115459244114636	0.13981	T	0.855714	0.57326	D	0.58267087	0.71754	0.395421	0.64210	0.58267087	0.71755	0.395421	0.64210	-5.236	0.39305	T	.	.	0.421	0.60730	A	.;.;.	.;.;.	4.298123	0.65610	24.9	0.99747310178800219	0.84002	0.96663	0.70280	D	AEFDGBI	0.742263	0.68594	D	0.614536708300555	0.74094	6.074536	0.617220818180813	0.76189	6.445549	0.99999999995994	0.74766	0.643511	0.44296	0	0.563428	0.19063	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.06	5.06	0.67838	4.171000	0.58029	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.216	0.86826	534	0.73357	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1228.83	34	chr15	65335889	.	C	G	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=289;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.783;SOR=0.79	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr15	65390218	65390218	T	-	exonic	IGDCC4	.	frameshift deletion	IGDCC4:NM_020962:exon13:c.2345delA:p.N782Tfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1022.79	38	chr15	65390217	.	GT	G	1022.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.169;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0.077;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	5	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.83	37	chr15	66326260	.	C	G	55.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.509;DP=340;ExcessHet=0;FS=80.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.05;SOR=5.545	GT:AD:DP:GQ:PL	0/0:57,0:57:77:0,77,1781	5	0	1	0
chr15	67465269	67465269	C	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001322472:exon11:c.C1427T:p.T476I,IQCH:NM_001284347:exon12:c.C1619T:p.T540I,IQCH:NM_001322474:exon12:c.C1664T:p.T555I,IQCH:NM_001322470:exon13:c.C1856T:p.T619I,IQCH:NM_001322473:exon13:c.C1856T:p.T619I,IQCH:NM_001284348:exon14:c.C1631T:p.T544I,IQCH:NM_001322475:exon14:c.C1856T:p.T619I,IQCH:NM_001031715:exon17:c.C2648T:p.T883I	.	429	1072	19	2	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0007	0.00499201	0.0035	0.0002	0.0004	0	0.0002	0.0006	0.0066	0.0221	0.0031047	480	154602	rs36067711	0.0018	0.0018	0.0011	0.0024	0.0220	0.0017	0.0017	0.0212	0.0209	0.0001	0.0006	0.0009	0	0.0001	0.0045	0.0004	0.0021	0.0220	0.0012	0.0012	0.0008	0.0017	0.0258	0.0011	0.0010	0.0221	0.0207	0.0002	0	0.0003	0.0003	0.0002	0	0.0136	0.0006	0.0019	0.0258	0.204	0.20607	T	0.194	0.28120	T	0.0	0.07471	B	0.002	0.06944	B	0.061213	0.02142	N	1.971120	1	0.08975	N	1.04	0.26193	L	0.89	0.45636	T	-1.48	0.36586	N	0.066	0.11197	-1.0332	0.19427	T	0.038	0.16290	T	10	0.0029875338	0.00049	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.23561869525893303	0.23476	0.108590475103	0.12248	0.276120305061	0.06957	T	0.046214	0.27356	T	-0.7134	0.00030	T	-0.780606	0.02435	T	0.0105919242418063	0.00148	T	0.467153	0.13745	T	0.028126314	0.02102	0.03579109	0.02898	0.028126314	0.02102	0.03579109	0.02898	-4.728	0.33742	T	.	.	0.099	0.19800	B	.;.;.	.;.;.	-1.750442	0.00175	0.003	0.81642553260835471	0.13787	0.01283	0.04476	N	AEFDGBI	0.040499	0.06034	N	-2.00195676999597	0.00210	0.008980746	-2.10308409786073	0.00184	0.008079054	0.999999999999998	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.05	-10.1	0.00330	-3.429000	0.00527	-5.629000	0.01650	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1868:0.438:0.2202:0.155	1.579	0.02472	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.001359	0.011696	0.000000	0.000000	0.009146	0.018939	0.1667	3136.06	39	chr15	67465269	.	C	T	3136.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.335;DP=396;ExcessHet=0.4139;FS=3.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.844;SOR=0.505	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1435,0,1797	4	0	2	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	600.83	37	chr15	69417444	.	A	G	600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.355;DP=232;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.052;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr15	70057655	70057655	G	A	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon11:c.C860T:p.S287L,TLE3:NM_001105192:exon13:c.C1055T:p.S352L,TLE3:NM_001282979:exon13:c.C1055T:p.S352L,TLE3:NM_001282980:exon13:c.C1064T:p.S355L,TLE3:NM_001282981:exon13:c.C1034T:p.S345L,TLE3:NM_005078:exon13:c.C1064T:p.S355L,TLE3:NM_020908:exon13:c.C1028T:p.S343L	.	.	.	.	.	.	.	.	.	.	.	2731992	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0153864122453	.	.	2.806e-05	0	0	0	0	5.257e-05	0	0	3.84e-05	1	26028	rs759781735	1.13e-05	1.231e-05	1.399e-05	8.555e-06	0.0002	6.69e-06	5.41e-06	0.0001	7.464e-05	0	0.0002	0	0	0	0	5.48e-06	1.695e-05	1.227e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.14694	T	0.297	0.22828	T	0.0	0.30857	B	0.0	0.27321	B	0.798057	0.06752	N	1.133610	0.999894	0.81001	D	0.525	0.13617	N	0.97	0.53088	T	-1.39	0.34397	N	0.525	0.59732	-1.0534	0.13466	T	0.088	0.33913	T	10	0.15640876	0.30235	T	0.015386	0.36094	T	0.103	0.29403	0.44	0.49484	0.151262610727	0.14761	0.4630908183473034	0.46228	0.445921823785	0.44471	0.64677631855	0.59527	T	0.267413	0.63945	T	-0.0468832	0.44919	T	-0.305121	0.44180	T	0.215918451547623	0.21258	T	0.936406	0.80429	D	0.07663365	0.17344	0.10945263	0.26379	0.07663365	0.17343	0.10945263	0.26379	-7.159	0.59375	T	.	.	0.215	0.48675	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.096652	0.85133	28.5	0.99758415883191331	0.84851	0.98550	0.83987	D	AEFDBCI	0.905510	0.85712	D	-0.142458984624524	0.35557	2.043833	0.0940501732597609	0.44250	2.710306	0.999999999998958	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.432000	0.96721	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.145	0.93448	964	0.07719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	429.83	42	chr15	70057655	.	G	A	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.549;DP=144;ExcessHet=0;FS=3.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.14;SOR=0.317	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,522	5	0	1	0
chr15	71215183	71215183	G	A	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_024817:exon3:c.G248A:p.R83H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0332311065777	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283157884	5.769e-06	6.225e-05	1.615e-06	1.01e-05	7.256e-05	2.4e-06	1.54e-06	2.392e-05	1.44e-05	0	0	0	0	0	0	1.006e-06	4.087e-05	7.256e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.103	0.49663	T	0.66	0.40908	P	0.152	0.34249	B	0.385880	0.13324	N	0.685718	1	0.08975	N	0.58	0.15352	N	2.23	0.18083	T	-0.32	0.12283	N	0.083	0.05929	-1.0676	0.09948	T	0.035	0.14857	T	10	0.056700736	0.06396	T	0.033231	0.54833	D	0.051	0.14325	0.332	0.31843	0.0884992946249	0.08302	0.25187323939045764	0.25101	0.23243451758	0.25788	0.734321475029	0.72138	T	0.017827	0.14480	T	-0.314331	0.07372	T	-0.689291	0.06430	T	0.0337056588967102	0.02588	T	0.678632	0.28733	T	0.030746661	0.02791	0.048544817	0.07233	0.030746661	0.02790	0.048544817	0.07232	-2.54	0.06061	T	.	.	0.089	0.18247	B	.;.	.;.	2.033037	0.25837	16.91	0.91858826167218555	0.21173	0.08501	0.14422	N	AEFDBHCI	0.070645	0.14031	N	-0.64935839862503	0.17479	0.8997907	-0.709346911430071	0.16728	0.8862845	0.999872130604533	0.44625	0.580535	0.33130	0	0.547309	0.14657	0	0.294263	0.05558	2	0.604944	0.38103	0	.	.	4.34	3.41	0.38145	0.898000	0.28035	3.579000	0.39150	0.357000	0.20036	0.003000	0.16062	0.581000	0.25622	0.935000	0.47363	0.0:0.2039:0.7961:0.0	10.164	0.42044	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	72.83	35	chr15	71215183	.	G	A	72.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=135;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-0.381;SOR=0.991	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,628	5	0	1	0
chr15	71731206	71731206	A	G	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon4:c.A539G:p.H180R,THSD4:NM_024817:exon9:c.A1619G:p.H540R	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0112131552639	8.1e-05	.	5.815e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs373695471	2.599e-05	2.599e-05	1.906e-05	3.3e-05	0.0003	1.932e-05	1.692e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	2.788e-05	1.656e-05	3.478e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.41e-05	0	0	0.153	0.53900	T	0.115	0.36630	T	0.112	0.26290	B	0.058	0.26451	B	0.296406	0.03927	N	1.458410	0.985091	0.41276	D	0.975	0.24501	L	0.12	0.61089	T	-1.96	0.45404	N	0.348	0.44187	-1.0496	0.14509	T	0.135	0.44933	T	10	0.18051457	0.33239	T	0.011213	0.28600	T	0.093	0.26882	.	.	0.388812400583	0.38497	0.5181091306558018	0.51733	0.142006430372	0.16011	0.405374735594	0.25815	T	0.03577	0.23847	T	-0.273838	0.11331	T	-0.433482	0.29541	T	0.0841530278064616	0.10509	T	0.724828	0.33863	T	0.056771718	0.11213	0.054882996	0.09522	0.056771718	0.11213	0.054882996	0.09521	-3.056	0.10798	T	.	.	0.078	0.06663	B	.;.	.;.	2.620450	0.34050	19.52	0.87000649897784565	0.16919	0.86853	0.46226	D	AEFDGBCI	0.535641	0.55418	D	-0.483949834684062	0.22607	1.208276	-0.371209004651618	0.25860	1.42474	0.999589597188298	0.40607	0.743674	0.98306	0	0.615948	0.52940	0	0.566861	0.19136	0	0.584449	0.35598	0	.	.	4.46	2.02	0.25641	3.815000	0.55355	3.860000	0.40132	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.7183:0.0:0.0982:0.1835	4.618	0.11824	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1488.83	36	chr15	71731206	.	A	G	1488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=304;ExcessHet=0;FS=5.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.227;SOR=1.217	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1499,0,1322	5	0	1	0
chr15	71747041	71747041	C	T	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon7:c.C1160T:p.S387L,THSD4:NM_024817:exon12:c.C2240T:p.S747L	.	429	1084	9	0	0	9	0.00413413	0.9205	0.622	.	2364984	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_aneurysm,_familial_thoracic_12	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0030731,MedGen:C5676959,OMIM:619825	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.0155934252831	0.0005	0.000199681	0.0007	0	0.0008	0	0	0.0008	0.002	0.0008	0.000401	62	154602	rs146042172	0.0004	0.0004	0.0004	0.0005	0.0099	0.0004	0.0004	0.0079	0.0071	0.0004	0.0007	0.0025	0	0	0.0099	0.0003	0.0010	0.0006	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0010	0.0023	0	0	0.0102	0.0005	0.0009	0.0004	0.053	0.38863	T	0.253	0.23501	T	0.589	0.39027	P	0.141	0.33616	B	.	.	.	.	0.990364	0.41143	D	1.1	0.28011	L	0.56	0.54540	T	-2.32	0.52612	N	0.643	0.69125	-1.0072	0.27789	T	0.100	0.37162	T	9	0.08216873	0.13532	T	0.015593	0.36407	T	0.118	0.32913	.	.	0.499281839539	0.49564	0.14918880482100783	0.14840	0.171652307546	0.19330	0.690563082695	0.65787	T	0.174235	0.52339	T	-0.291314	0.09505	T	-0.283964	0.46397	T	0.0309157445667508	0.02132	T	0.928607	0.73726	D	0.14138943	0.32581	0.20580995	0.44767	0.14138943	0.32581	0.20580995	0.44766	-8.291	0.63035	D	.	.	0.118	0.24192	B	.;.	.;.	5.011936	0.83234	28.0	0.9980204979446694	0.88639	0.78548	0.38769	D	AEFGBHCI	0.783381	0.71438	D	0.0866694203251143	0.45840	2.833997	0.238434459319856	0.51996	3.377414	0.999999999998211	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	5.879000	0.69436	7.514000	0.59661	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:1.0:0.0:0.0	15.679	0.77111	945	0.12563	.;.	.	.	.	.	.	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	0.009119	0.000000	0.008152	0.029586	0.000000	0.000000	0.003067	0.003788	0.08333	533.83	51	chr15	71747041	.	C	T	533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.93;DP=225;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.74;SOR=1.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	5	0	1	0
chr15	71771124	71771129	ATGACT	-	exonic	THSD4	.	nonframeshift deletion	THSD4:NM_001286429:exon11:c.1750_1755del:p.M584_T585del,THSD4:NM_024817:exon16:c.2830_2835del:p.M944_T945del	.	428	1091	3	0	0	3	0.001373	.	.	.	2476596	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0020	0.0007	0.0027	0	0.0006	0.0029	0.0011	6.056e-05	0.0003842	10	26028	rs577772364	0.0024	0.0024	0.0024	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0004	0.0024	0.0041	0	0.0004	0.0014	0.0028	0.0020	9.275e-05	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0028	0.0027	0.0006	0	0.0026	0.0032	0	9.427e-05	0	0.0031	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1148.79	35	chr15	71771123	.	CATGACT	C	1148.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.259;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	5	0	1	0
chr15	71811534	71811534	A	G	exonic	NR2E3	.	nonsynonymous SNV	NR2E3:NM_014249:exon2:c.A170G:p.K57R,NR2E3:NM_016346:exon2:c.A170G:p.K57R	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	547750	not_provided|Goldmann-Favre_syndrome|Retinal_dystrophy|Inborn_genetic_diseases|Enhanced_S-cone_syndrome|Retinitis_pigmentosa_37	MedGen:C3661900|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|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|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	.	.	0.000199681	0.0002	0	0.0008	0	0	0.0004	0	0	0.0001811	28	154602	rs563014885	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	3.04e-05	0.0001	0	0	0	0.0009	0.0002	0.0003	4.883e-05	0.0001	0.0001	0.0001	0.0002	0.0002	9.141e-05	7.697e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0.0102	0.0002	0	0	.	.	.	0.034	0.52727	D	0.952	0.54136	P	0.889	0.63100	P	0.000709	0.42254	N	0.229305	.	.	.	1.155	0.29575	L	.	.	.	.	.	.	0.489	0.53181	-0.6080	0.64487	T	0.198	0.55329	T	8	0.3078421	0.48284	T	.	.	.	.	.	.	.	0.629380067785	0.62635	0.5689362974805645	0.56821	.	.	0.76251155138	0.76303	T	0.795667	0.94737	D	-0.165561	0.25908	T	-0.179401	0.56579	T	0.276157708408081	0.24009	T	0.806219	0.45479	T	0.1904879	0.40636	0.3162085	0.57603	0.1904879	0.40636	0.3162085	0.57602	-12.049	0.85089	D	0.2625100279210697	0.35427	0.179	0.38994	B	.;.	.;.	4.258113	0.64686	24.7	0.7433751891992777	0.10658	0.94135	0.60218	D	AEFGBI	.	.	.	0.322452450351077	0.57304	3.897103	0.274729965208796	0.54069	3.572979	0.999827733453982	0.43622	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.062806	0.01542	0	0.710983	0.43162	3.98	2.8	0.31881	7.026000	0.76192	7.853000	0.71059	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.9072:0.0:0.0928:0.0	9.113	0.35898	933	0.16026	Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-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	.	.	.	.	.	.	.	.	0.08333	1102.83	123	chr15	71811534	.	A	G	1102.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.663;SOR=0.689	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1453	5	0	1	0
chr15	72289289	72289289	T	C	splicing	CELF6	NM_001172684:exon8:c.881-2A>G;NM_052840:exon8:c.881-2A>G	.	.	.	363	1158	1	0	0	1	0.000431593	1.0000	0.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779176827	4.382e-05	4.583e-05	3.921e-05	4.852e-05	0.0001	3.488e-05	3.166e-05	5.084e-05	3.283e-05	3.053e-05	2.647e-05	0	0.0001	0	0	4.294e-05	5.097e-05	6.145e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	6.852e-05	2.866e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.302222	0.08451	T	-0.481514	0.24285	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.402194	0.47155	22.4	0.76843570732595579	0.11632	0.92199	0.55166	D	AEFDBI	.	.	.	0.38320040964616	0.60512	4.240842	0.0733793051189895	0.43216	2.627906	0.0297979835463002	0.13907	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.148506	0.27271	4.77	0.717	0.17352	1.883000	0.39293	1.938000	0.29812	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.504000	0.29107	0.4622:0.0:0.0:0.5378	9.515	0.38264	201	0.92177	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	739.06	35	chr15	72289289	.	T	C	739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.11;DP=189;ExcessHet=0.4139;FS=0.957;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.535;SOR=0.937	GT:AD:DP:GQ:PL	0/1:16,8:24:99:230,0,436	4	0	2	0
chr15	72666280	72666280	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon18:c.C2020T:p.P674S	.	376	1136	9	1	0	11	0.00481822	.	.	.	2814296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0010	0.00179712	0.0021	0.0013	0.0070	0	0.0004	0.0022	0.0058	0.0007	0.0005763	15	26028	rs200621607	0.0019	0.0019	0.0019	0.0019	0.0048	0.0018	0.0018	0.0039	0.0037	0.0004	0.0044	0.0015	2.547e-05	0.0002	0.0048	0.0020	0.0023	0.0006	0.0015	0.0016	0.0014	0.0016	0.0050	0.0013	0.0013	0.0041	0.0037	0.0005	0	0.0050	0.0006	0	0	0	0.0018	0.0035	0.0002	0.66	0.04699	T	0.076	0.42614	T	0.859	0.47319	P	0.744	0.55835	P	.	.	.	.	1	0.08975	N	2.57	0.75187	M	1.91	0.23283	T	-4.47	0.77881	D	0.129	0.12341	-1.0001	0.29888	T	0.098	0.36728	T	9	0.0058475137	0.00131	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.10641298346349394	0.10571	.	.	0.296045929193	0.09813	T	0.039579	0.25236	T	-0.631578	0.00093	T	-0.679591	0.07008	T	0.049693697766378	0.05446	T	0.711729	0.32279	T	0.058731303	0.11850	0.11965609	0.28880	0.058731303	0.11850	0.11965609	0.28880	-3.378	0.14762	T	.	.	0.101	0.17488	B	.	.	0.582757	0.09512	6.289	0.97782818453179132	0.35944	0.00528	0.02449	N	AEFI	0.023757	0.01370	N	-0.547848073690352	0.20551	1.084207	-0.881336682063675	0.12537	0.6454333	9.96221243378444E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	1.650000	0.36908	-2.209000	0.04054	0.298000	0.18894	0.258000	0.24929	0.000000	0.08366	0.002000	0.04165	0.0:0.3356:0.3437:0.3207	2.155	0.03576	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	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	0.005895	0.000000	0.006812	0.004167	0.050000	0.008621	0.006250	0.007752	0.08333	372.83	39	chr15	72666280	.	C	T	372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.5;MQRankSum=0.918;QD=7.77;ReadPosRankSum=0.227;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	5	0	1	0
chr15	73885086	73885086	T	C	exonic	TBC1D21	.	nonsynonymous SNV	TBC1D21:NM_001286434:exon5:c.T454C:p.F152L,TBC1D21:NM_153356:exon6:c.T562C:p.F188L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0119786309325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.736e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.0	0.92824	D	0.992	0.64738	D	0.987	0.77487	D	0.000018	0.62929	D	0.000000	0.959553	0.38133	D	1.1	0.28011	L	2.87	0.10386	T	-1.53	0.37178	N	0.699	0.72031	-1.0538	0.13359	T	0.042	0.18035	T	10	0.52583146	0.62903	D	0.011979	0.30135	T	0.168	0.42943	0.461	0.52916	0.271763555656	0.26798	0.7336949919126846	0.73314	0.931234632884	0.71824	0.707497477531	0.68231	T	0.02424	0.21053	T	-0.0377384	0.46285	T	-0.291985	0.45566	T	0.941236257553101	0.61429	D	0.851615	0.53551	D	0.14910896	0.34009	0.16313331	0.37859	0.14910896	0.34009	0.16313331	0.37859	-2.057	0.03737	T	.	.	0.929	0.86313	P	.;.;.	.;.;.	4.449642	0.69162	25.3	0.99794049038079313	0.87928	0.78860	0.38973	D	AEFBI	0.525264	0.54811	D	0.397484312286969	0.61287	4.327566	0.425710620281296	0.63172	4.54572	0.717142779137338	0.22888	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.01	5.01	0.66477	4.242000	0.58509	7.845000	0.70699	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	11.122	0.47518	554	0.71839	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	637.83	34	chr15	73885086	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.377;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.382;SOR=0.734	GT:AD:DP:GQ:PL	0/1:55,31:86:99:648,0,1416	5	0	1	0
chr15	75206106	75206106	C	T	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C58T:p.R20C	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.113710655443	0.0023	0.00159744	0.0026	0.0007	0.0023	0.0002	0.0027	0.0035	0.0025	0.0015	0.0023997	371	154602	rs143806224	0.0032	0.0032	0.0033	0.0032	0.0036	0.0032	0.0031	0.0035	0.0035	0.0005	0.0022	0.0071	5.039e-05	0.0023	0.0016	0.0036	0.0025	0.0014	0.0027	0.0027	0.0030	0.0024	0.0040	0.0025	0.0024	0.0036	0.0035	0.0007	0.0011	0.0031	0.0066	0	0.0022	0.0034	0.0040	0.0033	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.149358	0.18020	N	0.490363	0.997412	0.43869	D	1.975	0.53506	M	-0.47	0.70133	T	-8.0	0.96495	D	0.673	0.68082	-0.2227	0.77079	T	0.359	0.72077	T	10	0.008951485	0.00203	T	0.113711	0.79231	D	0.337	0.65913	.	.	0.491438363841	0.48776	0.4184806125730701	0.41764	0.832611565215	0.67683	.	.	.	0.070762	0.46099	T	-0.266351	0.12166	T	-0.148832	0.59347	T	0.0585869488011129	0.06943	T	0.639136	0.62289	T	0.39791057	0.60587	0.27881762	0.53845	0.39791057	0.60588	0.27881762	0.53844	-6.244	0.49688	T	.	.	0.192	0.48521	B	.;.;.;.;.;.	.;.;.;.;.;.	4.551770	0.71641	25.7	0.95564501745913255	0.27246	0.91961	0.54639	D	AEFBCI	0.542004	0.55792	D	0.536594608906398	0.69271	5.333159	0.487098027702121	0.67133	5.043554	0.999999763053581	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	3.77	0.42499	3.250000	0.51146	3.330000	0.37619	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1808:0.8192:0.0:0.0	11.332	0.48719	419	0.81524	.;.;.;.;.;.	.	.	.	.	rs143806224	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1216.83	34	chr15	75206106	.	C	T	1216.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.944;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	5	0	1	0
chr15	75211058	75211058	G	A	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon3:c.G3086A:p.R1029K	.	414	1060	46	2	0	50	0.0230415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0039	0.00698882	0.0070	0.0029	0.0024	0.0083	0.0011	0.0061	0.0114	0.0178	0.0062742	970	154602	rs149175372	0.0053	0.0053	0.0049	0.0057	0.0155	0.0052	0.0052	0.0148	0.0145	0.0031	0.0025	0.0374	0.0140	0.0013	0.0148	0.0035	0.0090	0.0155	0.0049	0.0049	0.0048	0.0050	0.0133	0.0046	0.0045	0.0107	0.0097	0.0030	0	0.0044	0.0317	0.0087	0.0010	0.0476	0.0039	0.0203	0.0133	0.229	0.18371	T	0.103	0.38305	T	0.782	0.44333	P	0.309	0.41361	B	0.177696	0.17190	N	0.492645	1	0.27708	N	0	0.06538	N	2.31	0.16794	T	-0.28	0.11547	N	0.093	0.07262	-1.0571	0.12491	T	0.015	0.06234	T	10	0.0023316443	0.00034	T	.	.	.	0.030	0.07022	.	.	0.123314135267	0.11883	0.2174115423798215	0.21657	0.389086492998	0.40161	.	.	.	1.73E-4	0.00028	T	-0.641493	0.00082	T	-0.680611	0.06946	T	0.0068233635844981	0.00077	T	0.585341	0.21331	T	0.117705666	0.27745	0.09711565	0.23102	0.117705666	0.27744	0.09711565	0.23101	-4.093	0.25187	T	.	.	0.101	0.17742	B	.;.	.;.	2.510164	0.32421	19.04	0.98633525383095277	0.43947	0.21679	0.21486	N	AEFGBHCI	0.107958	0.21493	N	-0.569397808336719	0.19879	1.043867	-0.614254087800542	0.19127	1.024856	0.999999795639644	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.24	3.29	0.36801	1.812000	0.38590	5.183000	0.47871	0.654000	0.53741	0.104000	0.22875	1.000000	0.68203	0.485000	0.28678	0.0:0.2055:0.7945:0.0	10.021	0.41216	422	0.81333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.014946	0.011696	0.000000	0.008621	0.015244	0.018939	0.08333	940.83	37	chr15	75211058	.	G	A	940.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.849;DP=256;ExcessHet=0;FS=3.694;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.182;SOR=1.292	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr15	75676407	75676407	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon10:c.G6112A:p.V2038I	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00268857773376	.	0.000199681	4.984e-05	0	0	0.0005	0	0	0	0.0001	4.53e-05	7	154602	rs199663560	3.695e-05	3.762e-05	3.132e-05	4.264e-05	0.0003	2.895e-05	2.593e-05	0.0001	0.0001	0	0	0	0.0002	0	0.0003	2.338e-05	4.968e-05	0.0002	4.594e-05	4.592e-05	1.284e-05	8.053e-05	0.0010	2.107e-05	1.525e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	1.47e-05	0	0.0002	0.143	0.25355	T	0.184	0.29056	T	0.205	0.29827	B	0.038	0.23361	B	0.178685	0.17163	N	0.544208	1	0.08975	N	0.85	0.21244	L	2.37	0.15964	T	-0.4	0.13805	N	0.036	0.01068	-1.0163	0.24916	T	0.031	0.13504	T	10	0.028495342	0.00981	T	0.002689	0.05521	T	0.033	0.08068	0.485	0.56780	0.144782658237	0.14088	0.3876331648704326	0.38678	0.272190986156	0.29729	0.330213010311	0.14966	T	0.074094	0.34855	T	-0.619922	0.00110	T	-0.745035	0.03683	T	0.0119730489273369	0.00188	T	0.448855	0.12628	T	0.025365936	0.01466	0.032629892	0.02028	0.025365936	0.01465	0.032629892	0.02028	-5.764	0.44259	T	.	.	0.078	0.06803	B	.	.	0.585196	0.09539	6.313	0.90574563371637107	0.19829	0.02518	0.07018	N	AEFDGBI	0.069447	0.13746	N	-0.825806203023056	0.12653	0.6181253	-0.818050910437572	0.14058	0.7326115	0.999981387714868	0.51787	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	4.62	3.51	0.39297	0.536000	0.22838	0.931000	0.22780	-0.831000	0.02872	0.000000	0.06391	0.995000	0.32472	0.014000	0.10232	0.0:0.2147:0.0:0.7853	6.610	0.21942	164	0.93620	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2370.83	42	chr15	75676407	.	C	T	2370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.425;DP=374;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.319;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	5	0	1	0
chr15	76376173	76376173	G	T	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon29:c.C3106A:p.P1036T,SCAPER:NM_020843:exon29:c.C3844A:p.P1282T,SCAPER:NM_001353009:exon30:c.C3862A:p.P1288T,SCAPER:NM_001353010:exon30:c.C3442A:p.P1148T,SCAPER:NM_001353011:exon30:c.C3460A:p.P1154T,SCAPER:NM_001353012:exon30:c.C3442A:p.P1148T	.	9	1511	2	0	0	2	0.000661376	.	.	.	3509727	SCAPER-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0033296938603	0.0003	0.000399361	0.0003	0	0	0	0	0.0004	0	0.0003	0.0002587	40	154602	rs201658000	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	4.472e-05	0.0034	0	0	0	9.174e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0	0.0055	0	0	0	0.0002	0	0.0010	0.639	0.08212	T	0.918	0.23164	T	.	.	.	.	.	.	0.000002	0.62929	D	0.104145	0.976104	0.39246	D	1.92	0.51302	L	1.85	0.24841	T	-1.37	0.33998	N	0.354	0.39558	-1.0936	0.04959	T	0.045	0.19397	T	10	0.011371076	0.00249	T	0.00333	0.07421	T	0.025	0.05312	.	.	0.390060412749	0.38622	0.23575942146011358	0.23490	0.410785350422	0.41854	0.701834917068	0.67409	T	0.010532	0.09498	T	-0.395286	0.02486	T	-0.513428	0.20964	T	0.0708068311214447	0.08763	T	0.90081	0.65538	D	0.14646026	0.33526	0.11824492	0.28544	0.14646026	0.33525	0.11824492	0.28543	-5.383	0.40756	T	.	.	0.084	0.13644	B	.;.;.	.;.;.	3.092322	0.41643	21.4	0.76063755722947934	0.11319	0.95079	0.63361	D	AEFDGIJ	0.495006	0.53056	N	-0.0279954116684034	0.40591	2.413133	0.190832313781499	0.49344	3.138664	0.999999919526966	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.608524	0.38960	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	2.833000	0.47861	7.638000	0.63056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1298:0.7355:0.1347	12.031	0.52694	666	0.61362	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	731.06	34	chr15	76376173	.	G	T	731.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.727;DP=265;ExcessHet=0.4139;FS=0.752;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=0.209;SOR=0.821	GT:AD:DP:GQ:PL	0/1:50,19:69:99:396,0,1258	4	0	2	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.89	26	chr15	77470925	.	G	C	41.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.621;DP=137;ExcessHet=0;FS=79.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=0.207;SOR=4.97	GT:AD:DP:GQ:PL	0/1:20,11:31:52:52,0,478	5	0	1	0
chr15	78025495	78025495	C	G	exonic	TBC1D2B	.	nonsynonymous SNV	TBC1D2B:NM_015079:exon5:c.G850C:p.V284L,TBC1D2B:NM_144572:exon5:c.G850C:p.V284L	.	443	1072	5	2	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0029	0.0175719	0.0133	0.0016	0.0152	0.0868	0.0282	0.0064	0.0224	0.0031	0.0113065	1748	154602	rs78162825	0.0076	0.0075	0.0077	0.0075	0.0780	0.0075	0.0075	0.0757	0.0748	0.0011	0.0156	0.0018	0.0780	0.0261	0.0020	0.0045	0.0100	0.0037	0.0082	0.0082	0.0074	0.0090	0.0720	0.0078	0.0076	0.0660	0.0636	0.0013	0.0296	0.0091	0.0006	0.0720	0.0246	0	0.0052	0.0099	0.0029	0.295	0.14743	T	0.358	0.17166	T	0.0	0.02946	B	0.0	0.06944	B	0.089432	0.20428	N	0.547632	1	0.08975	N	0.85	0.21244	L	3.14	0.07920	T	-0.09	0.08340	N	0.036	0.01068	-0.9594	0.39293	T	0.002	0.00646	T	10	0.0013072789	0.00014	T	.	.	.	0.081	0.23632	0.041	0.00037	.	.	0.17463556954092851	0.17382	0.262192732783	0.28783	0.328629881144	0.14726	T	0.00291	0.02768	T	-0.693615	0.00040	T	-0.703162	0.05655	T	0.00757326381172157	0.00088	T	0.644736	0.25622	T	0.03274336	0.03357	0.03610186	0.02989	0.03274336	0.03356	0.03610186	0.02988	-3.169	0.12322	T	.	.	0.086	0.21987	B	.;.;.	.;.;.	1.027955	0.14078	10.65	0.915796467345807	0.20861	0.07433	0.13450	N	AEFBI	0.049559	0.08574	N	-0.758324555770469	0.14408	0.7174576	-0.723979710650468	0.16364	0.8653307	0.999625377689843	0.41093	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	0.972	0.18824	-0.064000	0.11593	0.160000	0.15395	-0.218000	0.08083	0.186000	0.24138	0.001000	0.17328	0.991000	0.66497	0.0:0.4555:0.1351:0.4094	5.968	0.18568	777	0.48198	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.007576	0.1667	572.06	23	chr15	78025495	.	C	G	572.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.508;DP=142;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.108;SOR=0.701	GT:AD:DP:GQ:PL	0/1:11,10:21:99:302,0,326	4	0	2	0
chr15	78766976	78766976	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.G2935A:p.E979K	.	777	736	7	2	0	11	0.0074174	.	.	.	2814403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0137141872735	0.0061	0.00279553	0.0050	0.0013	0.0018	0	0.0028	0.0068	0.0072	0.0061	0.0046636	721	154602	rs142824118	0.0073	0.0073	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0013	0.0023	0.0046	0	0.0034	0.0062	0.0085	0.0068	0.0050	0.0048	0.0048	0.0051	0.0046	0.0077	0.0046	0.0044	0.0072	0.0070	0.0017	0.0033	0.0047	0.0037	0	0.0027	0.0170	0.0077	0.0043	0.0027	0.745	0.03642	T	0.754	0.04737	T	0.104	0.25941	B	0.08	0.28873	B	0.029572	0.25434	N	0.374249	1	0.08975	N	0.99	0.25021	L	2.23	0.18083	T	-0.93	0.24898	N	0.251	0.28381	-0.9761	0.35882	T	0.023	0.09650	T	10	0.0047879815	0.00101	T	0.013714	0.33318	T	0.080	0.23350	.	.	0.259272394797	0.25527	0.4221608113651136	0.42133	0.192924809784	0.21626	0.361607074738	0.19620	T	0.007393	0.06799	T	-0.632425	0.00092	T	-0.67453	0.07321	T	0.00802774781014777	0.00095	T	0.171583	0.01629	T	0.03452273	0.03891	0.045653746	0.06190	0.03452273	0.03891	0.045653746	0.06189	-4.22	0.27040	T	.	.	0.060	0.00904	B	.	.	3.128772	0.42274	21.5	0.69891289535193057	0.09118	0.16885	0.19593	N	AEFGBI	0.161162	0.28718	N	-0.983271826971256	0.08960	0.42218	-0.924399695000994	0.11519	0.5873157	0.103581531675459	0.16451	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.92	0.44525	1.932000	0.39773	0.185000	0.15676	-0.375000	0.05424	0.095000	0.22689	0.004000	0.18990	0.018000	0.11154	0.0:0.6904:0.2244:0.0852	9.438	0.37814	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007336	0.006329	0.008219	0.000000	0.000000	0.000000	0.016779	0.008130	0.08333	634.83	37	chr15	78766976	.	C	T	634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.507;DP=223;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.684;SOR=0.597	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1187	5	0	1	0
chr15	79463241	79463241	C	T	exonic	MINAR1	.	nonsynonymous SNV	MINAR1:NM_015206:exon3:c.C2473T:p.R825W	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.167036482788	0.0029	0.00139776	0.0019	0.0010	0.0004	0	0.0006	0.0029	0.0022	0.0005	0.0019211	297	154602	rs61746211	0.0030	0.0030	0.0030	0.0029	0.0037	0.0029	0.0028	0.0036	0.0035	0.0004	0.0007	0	0.0001	0.0004	0.0019	0.0037	0.0023	0.0003	0.0021	0.0021	0.0021	0.0021	0.0034	0.0019	0.0018	0.0030	0.0029	0.0007	0.0033	0.0033	0	0	0.0003	0	0.0034	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.59	0.53943	T	-6.36	0.91017	D	0.772	0.76946	-0.6645	0.62077	T	0.228	0.59334	T	9	0.031874537	0.01328	T	0.167036	0.84551	D	0.465	0.76089	.	.	0.292423486923	0.28857	0.6384187266458748	0.63775	0.396251822541	0.40742	0.724040865898	0.70636	T	.	.	.	-0.143353	0.29358	T	0.0204684	0.71660	D	0.0514842322984893	0.05758	T	0.954605	0.82717	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	3.889968	0.56592	23.8	0.99701670728480363	0.80660	0.79781	0.39602	D	AEFDBHCI	0.761398	0.69912	D	-0.051780452715395	0.39522	2.332093	-0.0925992323301375	0.35695	2.068183	0.970594554542202	0.29219	0.65861	0.49226	0	0.588015	0.36545	0	0.725225	0.93170	0	0.620846	0.47308	0	.	.	5.19	4.27	0.50009	4.245000	0.58529	3.190000	0.36699	-0.829000	0.02890	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.1239:0.8761:0.0:0.0	17.970	0.89030	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1582.83	36	chr15	79463241	.	C	T	1582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-1.428;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	5	0	1	0
chr15	81299821	81299823	CCT	-	exonic	IL16	.	nonframeshift deletion	IL16:NM_004513:exon2:c.392_394del:p.S137del,IL16:NM_001172128:exon14:c.2495_2497del:p.S838del,IL16:NM_001352686:exon14:c.2648_2650del:p.S889del,IL16:NM_172217:exon14:c.2495_2497del:p.S838del,IL16:NM_001352684:exon15:c.665_667del:p.S228del,IL16:NM_001352685:exon15:c.1985_1987del:p.S668del	.	33	1482	3	0	4	7	0.00101112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0119	.	0.0038	0.0035	0.0032	0.0021	0.0009	0.0035	0.0011	0.0078	0.0029301	453	154602	rs562825970	0.0008	0.0033	0.0007	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	9.03e-05	0.0051	0	0.0005	0.0002	0.0007	0.0011	0.0015	0.0006	0.0006	0.0006	0.0006	0.0035	0.0005	0.0005	0.0022	0.0018	0.0002	0	6.544e-05	0.0043	0	9.459e-05	0	0.0008	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018630	0.000000	0.020380	0.014620	0.000000	0.034483	0.012195	0.034091	0.08333	1742.79	41	chr15	81299820	.	GCCT	G	1742.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.218;DP=297;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.319;SOR=0.831	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1322	5	0	1	0
chr15	81319351	81319351	T	C	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon4:c.A388G:p.I130V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0124853905124	0.0006	0.000199681	0.0006	0.0005	0.0018	0	0.0002	0.0006	0.0011	0.0005	0.0005304	82	154602	rs143662006	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	8.963e-05	0.0008	0	0	9.36e-05	0.0003	0.0007	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	6.533e-05	0	0	0	0.0034	0.0006	0.0014	0.0004	0.708	0.04069	T	0.656	0.06598	T	0.009	0.15093	B	0.035	0.22741	B	0.000366	0.45194	D	0.188519	0.789777	0.29239	N	1.9	0.50570	L	-1.14	0.77843	T	-0.41	0.14000	N	0.222	0.24883	-0.8271	0.53486	T	0.280	0.65219	T	10	0.02822408	0.00957	T	0.012485	0.31090	T	0.164	0.42212	.	.	0.480274617672	0.47656	0.38265672614642693	0.38180	0.1251482573	0.14108	0.408055126667	0.26188	T	0.010116	0.09163	T	-0.319159	0.06966	T	-0.334316	0.40987	T	0.00401589249432638	0.00043	T	0.741926	0.36121	T	0.091514565	0.21446	0.05982417	0.11294	0.091514565	0.21446	0.05982417	0.11293	-4.186	0.26548	T	.	.	0.074	0.04975	B	.	.	1.263467	0.16614	12.65	0.72067584920340289	0.09844	0.70015	0.34418	D	AEFBCI	0.140681	0.26265	N	-0.613915136344802	0.18526	0.9624994	-0.564755144033833	0.20415	1.099771	0.999790775542854	0.43153	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.95	1.16	0.19936	1.422000	0.34434	-0.011000	0.13060	0.609000	0.47794	0.996000	0.39380	0.891000	0.27831	0.954000	0.50415	0.1312:0.0:0.2842:0.5846	7.300	0.25587	889	0.27310	START domain|START domain|START 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	.	.	.	.	.	.	.	.	0.1667	2958.06	33	chr15	81319351	.	T	C	2958.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.976;DP=341;ExcessHet=0.4139;FS=1.808;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.643;SOR=0.549	GT:AD:DP:GQ:PL	0/1:29,65:94:99:1659,0,629	4	0	2	0
chr15	81322461	81322461	C	T	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon3:c.G229A:p.V77M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0597360022304	0.0057	0.00199681	0.0053	0.0015	0.0043	0	0.0080	0.0076	0.0099	0.0008	0.0055239	854	154602	rs138923627	0.0072	0.0072	0.0073	0.0072	0.0085	0.0071	0.0070	0.0083	0.0083	0.0013	0.0019	0.0040	0	0.0083	0.0026	0.0085	0.0059	0.0010	0.0049	0.0049	0.0052	0.0045	0.0084	0.0046	0.0045	0.0078	0.0076	0.0017	0.0022	0.0010	0.0061	0	0.0054	0	0.0084	0.0019	0.0002	0.098	0.30800	T	0.101	0.38596	T	0.444	0.35956	B	0.055	0.25995	B	0.592850	0.11032	N	0.826633	1	0.08975	N	1.385	0.34509	L	-1.78	0.83737	D	-0.4	0.13805	N	0.343	0.38438	-0.7375	0.58581	T	0.273	0.64515	T	10	0.010636598	0.00236	T	0.059736	0.67764	D	0.219	0.51417	.	.	0.69773716983	0.69512	0.27686567014136493	0.27599	0.196326814967	0.21991	0.3354139328	0.15750	T	0.111281	0.42665	T	-0.422162	0.01657	T	-0.368795	0.37030	T	0.00615744866149236	0.00068	T	0.875013	0.58582	D	0.15914816	0.35765	0.10459949	0.25127	0.15914816	0.35765	0.10459949	0.25126	-4.3	0.28177	T	.	.	0.128	0.27343	B	.	.	2.628235	0.34173	19.55	0.98726751472176033	0.45289	0.48765	0.28281	N	AEFDBCI	0.117195	0.22969	N	-0.248072187610428	0.31179	1.745807	-0.212073263361236	0.31101	1.757036	0.999952129943829	0.48110	0.646311	0.45356	0	0.581341	0.33841	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.51	3.18	0.35615	2.587000	0.45793	3.125000	0.36417	0.599000	0.40250	0.969000	0.34210	0.072000	0.22236	0.714000	0.34579	0.0:0.7006:0.169:0.1304	7.949	0.29163	900	0.24599	START domain|START domain|START domain	.	.	.	.	rs138923627	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1342.83	34	chr15	81322461	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.079;DP=321;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.579;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	5	0	1	0
chr15	82345024	82345038	CGTAGCCTCTCCTCC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.822_836del:p.Q274_C279delinsH,GOLGA6L10:NM_001322400:exon6:c.822_836del:p.Q274_C279delinsH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453486399	7.933e-06	6.375e-05	6.933e-06	8.968e-06	8.788e-06	3.73e-06	2.7e-06	3.78e-06	2.73e-06	0	0	0	0	0	0	8.788e-06	2.263e-05	0	3.598e-05	0.0001	2.285e-05	5.048e-05	7.277e-05	9.56e-06	4.65e-06	1.93e-05	1.035e-05	0	0	0	0	0	0	0	7.277e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	77.79	20	chr15	82345023	.	ACGTAGCCTCTCCTCC	A	77.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.09;MQRankSum=-0.208;QD=3.24;ReadPosRankSum=-1.532;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:88:0|1:82345023_ACGTAGCCTCTCCTCC_A:88,0,594:82345023	5	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	218.99	20	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	218.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=287;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=41.83;MQRankSum=1.42;QD=15.64;ReadPosRankSum=-1.49;SOR=1.202	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,5:21:99:.:.:939,232,243:.	5	0	1	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	218.99	20	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	218.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=287;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=41.83;MQRankSum=1.42;QD=15.64;ReadPosRankSum=-1.49;SOR=1.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,8:21:99:.:.:939,300,896:.	5	0	1	0
chr15	82345130	82345130	G	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon6:c.C730T:p.R244C,GOLGA6L10:NM_001322400:exon6:c.C730T:p.R244C	.	744	763	15	0	0	15	0.00973394	.	.	.	2333882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00501892893472	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200328108	0.0003	0.0013	0.0002	0.0004	0.0014	0.0003	0.0003	0.0007	0.0006	0.0014	6.54e-05	0.0002	0.0004	0.0002	0	0.0004	0.0005	0.0001	0.0010	0.0030	0.0011	0.0009	0.0035	0.0008	0.0008	0.0028	0.0026	0.0035	0.0012	0.0006	0.0014	0.0003	0.0004	0	0.0003	0	0.0003	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.051504552	0.05041	T	0.001461	0.02215	T	.	.	.	.	0.0297737177859	0.01360	0.030426935394265955	0.02991	.	.	.	.	.	0.150635	0.49020	T	-0.28982	0.09654	T	-0.654083	0.08670	T	.	.	.	0.234177	0.03217	T	0.05860465	0.11811	0.05212441	0.08525	0.05860465	0.11811	0.05212441	0.08524	-3.404	0.15110	T	.	.	0.134	0.29144	B	.	.	0.972778	0.13500	10.02	0.79052861391817675	0.12569	0.00259	0.01419	N	AEFI	0.079793	0.16123	N	.	.	.	.	.	.	4.68160811495497E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.594	-1.19	0.09091	-0.821000	0.04560	-3.786000	0.02538	-2.355000	0.00307	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5106:0.0:0.2277:0.2617	2.001	0.03256	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	.	.	.	.	.	.	.	.	0.1667	40.9	83	chr15	82345130	.	G	A	40.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=42.3;MQRankSum=-0.967;QD=13.63;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800:.	2	0	1	3
chr15	84512150	84512150	G	A	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1373962524	0.0006	0.0013	0.0005	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0013	0.0004	0.0004	0.0006	3.343e-05	0.0005	0.0004	0.0008	0.0016	0.0014	0.0018	0.0012	0.0016	0.0038	0.0012	0.0011	0.0030	0.0028	0.0038	0	0.0005	0.0014	0.0014	0	0	0.0004	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	187.84	24	chr15	84512150	.	G	A	187.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=99;ExcessHet=0;FS=3.854;MLEAC=1;MLEAF=0.083;MQ=34.01;MQRankSum=1.24;QD=11.05;ReadPosRankSum=-1.123;SOR=0.096	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,362	5	0	1	0
chr15	85244613	85244613	T	A	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon6:c.T623A:p.L208Q	.	526	993	3	0	0	3	0.0015083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0009	0	0	0.0004226	11	26028	rs201958698	0.0002	0.0002	0.0001	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0.0007	0.0003	4.228e-05	0.0001	2.982e-05	0.0011	0.0003	0.0003	3.934e-05	0.0010	0.0013	0.0012	0.0007	0.0035	0.0008	0.0008	0.0029	0.0027	0.0035	0	0.0008	0	0.0004	0.0002	0	0.0004	0.0011	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	291.83	74	chr15	85244613	.	T	A	291.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.503;DP=583;ExcessHet=0;FS=4.26;MLEAC=1;MLEAF=0.083;MQ=52.16;MQRankSum=-0.811;QD=3.94;ReadPosRankSum=-2.763;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,120,1800:.	5	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.41	99	chr15	88530840	.	T	C	36.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1;DP=504;ExcessHet=0.4139;FS=81.914;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.92;SOR=6.517	GT:AD:DP:GQ:PL	0/0:95,0:95:59:0,59,2160	4	0	2	0
chr15	88871510	88871510	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon13:c.G6961A:p.V2321I,ACAN:NM_013227:exon14:c.G7075A:p.V2359I,ACAN:NM_001369268:exon15:c.G7189A:p.V2397I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	3	1516	2	1	0	4	0.00131752	.	.	YES	439186	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00347553905536	0.0011	0.000199681	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0005	0.0007697	119	154602	rs150555123	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0013	0.0003	0.0010	0.0005	0	7.512e-05	0.0002	0.0014	0.0012	0.0003	0.0009	0.0009	0.0010	0.0008	0.0020	0.0008	0.0007	0.0014	0.0012	0.0002	0	0.0020	0.0006	0	0	0	0.0014	0.0005	0	0.843	0.07071	T	0.781	0.06788	T	.	.	.	.	.	.	0.010616	0.29855	N	0.000000	0.999999	0.08975	N	.	.	.	2.32	0.16640	T	-0.39	0.13611	N	0.136	0.20660	-1.0024	0.29226	T	0.021	0.08917	T	10	0.019824654	0.00448	T	0.003476	0.07847	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.5396566820515746	0.53890	0.261733253027	0.28725	0.317637383938	0.13063	T	.	.	.	-0.686421	0.00044	T	-0.763388	0.02993	T	0.00835893870462146	0.00101	T	0.454355	0.15447	T	0.019203026	0.00447	0.029473625	0.01288	0.017440213	0.00272	0.027778026	0.00957	-2.405	0.07161	T	.	.	0.086	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	0.245519	0.06252	2.707	0.97751645658308861	0.35745	0.20724	0.21145	N	AEFDBCI	0.094997	0.19200	N	-0.17876720219888	0.34020	1.936805	-0.126960422530195	0.34307	1.971984	0.785066180036367	0.23915	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	3.68	0.41359	0.206000	0.17174	0.415000	0.18155	-0.127000	0.13314	0.360000	0.25842	0.010000	0.20010	0.607000	0.31564	0.1699:0.3074:0.5227:0.0	5.737	0.17339	964	0.07719	C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-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	0.002541	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1483.06	33	chr15	88871510	.	G	A	1483.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.13;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.674;SOR=0.735	GT:AD:DP:GQ:PL	0/1:35,27:62:99:706,0,755	4	0	2	0
chr15	88909921	88909921	T	C	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon2:c.A76G:p.I26V,MFGE8:NM_005928:exon2:c.A76G:p.I26V,MFGE8:NM_001310320:exon3:c.A52G:p.I18V	.	418	1097	7	0	0	7	0.00318037	.	.	.	726326	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0155751	0.0085	0	0.0007	0.0183	0	8.992e-05	0.0077	0.0520	0.0075937	1174	154602	rs143117049	0.0035	0.0035	0.0021	0.0049	0.0502	0.0034	0.0034	0.0490	0.0485	0.0002	0.0002	0	0.0103	1.874e-05	0.0019	7.554e-05	0.0051	0.0502	0.0028	0.0028	0.0018	0.0039	0.0576	0.0026	0.0025	0.0520	0.0499	0.0004	0	0.0005	0	0.0236	0	0	5.879e-05	0.0009	0.0576	0.838	0.16958	T	0.106	0.39799	T	0.005	0.14655	B	0.004	0.10090	B	0.000135	0.49741	D	0.244211	1	0.81001	D	-0.345	0.03330	N	-2.86	0.91421	D	0.08	0.06026	N	0.256	0.29197	-0.6061	0.64565	T	0.265	0.63577	T	10	0.0045621097	0.00095	T	.	.	.	0.282	0.59981	.	.	0.780309997318	0.77828	0.6435828370275465	0.64293	0.0927251273686	0.10471	0.412731528282	0.26835	T	0.044387	0.26799	T	-0.366783	0.03760	T	-0.263129	0.48510	T	0.0157270759769986	0.00364	T	0.350665	0.09032	T	0.019394567	0.00469	0.026178306	0.00694	0.019394567	0.00469	0.026178306	0.00694	-2.388	0.05423	T	.	.	0.079	0.12512	B	.;.;.;.	.;.;.;.	1.552104	0.19892	14.49	0.95068260374652636	0.26104	0.73719	0.36059	D	AEFBCI	0.464936	0.51322	N	-0.539347433875791	0.20819	1.100357	-0.343215859517718	0.26719	1.477697	0.999989497530103	0.51787	0.706548	0.73137	0	0.588015	0.36545	0	0.672317	0.60874	0	0.714379	0.83352	0	.	.	5.39	3.45	0.38602	3.918000	0.56144	3.800000	0.39865	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1468:0.687:0.1662	9.669	0.39166	958	0.09170	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	rs143117049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.005882	0.000000	0.000000	0.009146	0.026515	0.08333	798.83	34	chr15	88909921	.	T	C	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.668;DP=270;ExcessHet=0;FS=3.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.157;SOR=0.397	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1237	5	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4264.94	39	chr15	89776903	.	AGGGCAGGGGCAG	*	4264.94	.	AC=6;AF=0.5;AN=12;DP=215;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27:27:84:.:.:1221,84,0:.	2	2	2	0
chr15	89806274	89806274	T	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.A310C:p.K104Q,ANPEP:NM_001150:exon2:c.A310C:p.K104Q,ANPEP:NM_001381923:exon2:c.A310C:p.K104Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00433035184597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05183	T	0.685	0.06014	T	0.002	0.09854	B	0.009	0.14300	B	0.154332	0.02988	N	1.686570	1	0.08975	N	-0.535	0.02521	N	4.17	0.02767	T	-0.19	0.09965	N	0.056	0.02759	-0.9242	0.44971	T	0.006	0.02018	T	10	0.13873816	0.26384	T	0.00433	0.10529	T	0.006	0.00375	0.514	0.61307	0.242244723065	0.23846	0.5533401327356962	0.55260	0.273113222108	0.29815	0.242199838161	0.02991	T	0.136364	0.46869	T	-0.397501	0.02404	T	-0.808759	0.01693	T	0.0578614324331284	0.06828	T	0.630737	0.24588	T	0.2899558	0.51988	0.065843835	0.13404	0.2899558	0.51988	0.065843835	0.13403	-4.039	0.24385	T	.	.	0.086	0.10835	B	.	.	-0.400611	0.02210	0.221	0.52225883996111888	0.04708	0.20941	0.21224	N	AEFDGBCI	0.351420	0.44453	N	-1.60236304902423	0.01253	0.05450213	-1.69340977965447	0.01167	0.0524944	0.999999973383802	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.94	-7.4	0.01252	-1.389000	0.02636	-8.021000	0.01043	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1065:0.1983:0.4339:0.2613	3.301	0.06573	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	65.83	39	chr15	89806274	.	T	G	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.453;DP=322;ExcessHet=0;FS=57.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.643;SOR=5.993	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,103,1661	5	0	1	0
chr15	89806400	89806400	C	A	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon1:c.G184T:p.A62S,ANPEP:NM_001150:exon2:c.G184T:p.A62S,ANPEP:NM_001381923:exon2:c.G184T:p.A62S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0173205523992	.	0.000599042	0.0009	0	0	0.0001	0	0	0.0022	0.0061	0.0006921	107	154602	rs574341939	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	0	0	0	0	0	0	2.878e-05	0.0004	0.0066	0.0002	0.0002	8.997e-05	0.0002	0.0046	0.0001	9.239e-05	0.0031	0.0026	0	0	0	0	0	0	0	2.941e-05	0	0.0046	0.64	0.08115	T	0.9	0.03047	T	0.013	0.16609	B	0.012	0.16012	B	0.003959	0.00996	N	3.514400	1	0.08975	N	1.795	0.47270	L	5.1	0.29866	T	-0.12	0.10308	N	0.091	0.06990	-0.9091	0.46965	T	0.004	0.01295	T	10	0.004625261	0.00096	T	0.017321	0.38971	T	0.043	0.11576	.	.	0.297031009988	0.29315	0.6077418469760998	0.60706	0.233634573208	0.25897	0.267298996449	0.05791	T	0.271592	0.64393	T	-0.599238	0.00147	T	-0.629955	0.10418	T	0.0152109157592097	0.00334	T	0.456254	0.13284	T	0.054827377	0.10572	0.051684014	0.08368	0.054827377	0.10572	0.051684014	0.08368	-1.489	0.01742	T	.	.	0.074	0.05145	B	.;.	.;.	0.342539	0.07159	3.744	0.57652867767554439	0.05817	0.13040	0.17628	N	AEFDBCI	0.223101	0.34750	N	-1.14901228529999	0.05795	0.2651701	-1.16016907881487	0.06587	0.3175664	0.9999553287118	0.48110	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.52	1.21	0.20240	-1.578000	0.02229	-3.758000	0.02557	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.241000	0.23027	0.1812:0.4339:0.1767:0.2083	1.158	0.01688	445	0.79730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.08333	973.83	96	chr15	89806400	.	C	A	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.944;DP=286;ExcessHet=0;FS=2.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.795;SOR=0.434	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	5	0	1	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S,BLM:NM_001287247:exon9:c.C2119T:p.P707S,BLM:NM_001287248:exon9:c.C994T:p.P332S,BLM:NM_001287246:exon10:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	132939	BLM-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Bloom_syndrome	.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1667	917.06	33	chr15	90765340	.	C	T	917.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.901;DP=200;ExcessHet=0.4139;FS=1.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.701;SOR=0.481	GT:AD:DP:GQ:PL	0/1:20,16:36:99:334,0,484	4	0	2	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C,FURIN:NM_001289824:exon3:c.C241T:p.R81C,FURIN:NM_001382619:exon3:c.C241T:p.R81C,FURIN:NM_001382620:exon3:c.C241T:p.R81C,FURIN:NM_001382621:exon3:c.C241T:p.R81C,FURIN:NM_001382622:exon3:c.C241T:p.R81C,FURIN:NM_002569:exon3:c.C241T:p.R81C	.	364	1140	17	1	0	19	0.00826446	.	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Likely benign	0	0	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	0.021148	0.010101	0.025815	0.038012	0.050000	0.017241	0.018293	0.003788	0.1667	1779.06	33	chr15	90876318	.	C	T	1779.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=265;ExcessHet=0.4139;FS=1.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.239;SOR=0.529	GT:AD:DP:GQ:PL	0/1:34,34:68:99:961,0,954	4	0	2	0
chr15	98649616	98649616	C	T	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon1:c.C35T:p.S12L,IGF1R:NM_001291858:exon1:c.C35T:p.S12L	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.150548048912	.	.	8.415e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs774479139	3.429e-06	3.42e-06	1.365e-06	5.513e-06	0.0002	1e-06	7.3e-07	1.796e-05	8.98e-06	0	6.771e-05	0	0	0	0.0002	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.04802	T	0.936	0.02725	T	0.0	0.02946	B	0.0	0.01387	B	0.379621	0.13408	U	0.606264	0.933158	0.27003	N	-1.1	0.00987	N	-0.78	0.73631	T	1.27	0.00985	N	0.11	0.09631	-0.9819	0.34561	T	0.106	0.38783	T	10	0.075326085	0.11628	T	0.150548	0.83222	D	0.118	0.32913	0.353	0.35246	0.526536621021	0.52300	0.4717715276315944	0.47096	0.546491555766	0.51644	0.715169668198	0.69342	T	0.346743	0.71496	T	-0.206408	0.19887	T	-0.36181	0.37843	T	0.218301504850388	0.21379	T	0.79922	0.44465	T	0.08238223	0.18976	0.08914913	0.20830	0.08238223	0.18975	0.08914913	0.20830	-2.211	0.04094	T	.	.	0.083	0.09094	B	.;.;.;.	.;.;.;.	2.906512	0.38538	20.8	0.95899649801582276	0.28128	0.20005	0.20879	N	AEFDGBHCI	0.073952	0.14808	N	-0.610388372549388	0.18632	0.9688525	-0.390718111576509	0.25272	1.388829	0.999999999336497	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.372554	0.06265	0	.	.	3.72	2.78	0.31702	1.371000	0.33855	4.315000	0.42981	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7385:0.0:0.2615	4.660	0.12025	981	0.03995	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	566.83	41	chr15	98649616	.	C	T	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.261;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	5	0	1	0
chr15	99105891	99105891	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon1:c.C692T:p.A231V,SYNM:NM_145728:exon1:c.C692T:p.A231V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	.	.	0.00379393	0.0444	0	.	0.3571	.	0	0.25	0.0161	0.0005175	80	154602	rs531355545	0.0003	0.0003	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	0	0	0	0.0115	0	0	5.567e-06	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	0.0137	0.0004	0.0003	0.0111	0.0101	0	0	0	0	0.0137	0	0	1.477e-05	0	0.0002	0.126	0.27194	T	0.135	0.34124	T	0.836	0.46303	P	0.455	0.46267	P	.	.	.	.	1	0.19363	N	.	.	.	-2.41	0.88689	D	-1.27	0.36586	N	0.337	0.40665	-0.3262	0.74246	T	0.590	0.85316	D	9	0.0013459623	0.00015	T	.	.	.	0.392	0.70764	.	.	.	.	0.24266122982553778	0.24180	0.560577814504	0.52574	0.786938786507	0.79977	T	0.424972	0.77523	T	-0.38515	0.02890	T	-0.182197	0.56319	T	0.0740906982124328	0.09214	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.;.	.;.;.	3.983064	0.58568	24.0	0.99636948325186692	0.76387	0.05780	0.11713	N	ALL	.	.	.	0.0239212475639864	0.42945	2.597198	-0.0201062591392396	0.38807	2.291743	0.999999999987787	0.74766	0.623204	0.39778	0	0.552344	0.17405	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.29	2.15	0.26590	0.917000	0.28286	3.153000	0.36534	0.518000	0.23583	0.208000	0.24400	0.997000	0.33255	0.909000	0.44452	0.1719:0.5751:0.149:0.104	3.757	0.08114	982	0.03397	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	353.06	40	chr15	99105891	.	C	T	353.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.75;DP=156;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.18;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,8:16:99:262,0,168	4	0	2	0
chr15	99132711	99132711	A	G	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_145728:exon4:c.A4351G:p.I1451V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00123318090906	7.9e-05	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs370571963	8.825e-05	8.824e-05	8.168e-05	9.489e-05	0.0009	7.555e-05	7.102e-05	0.0003	0.0002	0	4.472e-05	0	0	0	0.0009	9.174e-05	8.282e-05	0.0002	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0002	4.494e-05	3.51e-05	4.766e-05	3.34e-05	4.812e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	0.625	0.07316	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.073	0.04668	-0.9563	0.39861	T	0.020	0.08220	T	8	0.027727753	0.00914	T	0.001233	0.01633	T	0.023	0.04649	.	.	0.117506650769	0.11410	0.14303126578418757	0.14226	0.124980632661	0.14079	0.240338683128	0.02821	T	.	.	.	-0.466405	0.00896	T	-0.611542	0.11859	T	0.0136309899496088	0.00253	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10931	B	.	.	-0.749739	0.01209	0.060	0.34508048629360066	0.02115	0.01064	0.03948	N	AEFGBI	.	.	.	-1.46855546491448	0.02075	0.09125643	-1.59901948979861	0.01661	0.07541884	0.999999994760164	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.46	-8.7	0.00738	-0.334000	0.07927	-0.708000	0.07763	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.647:0.171:0.182:0.0	10.741	0.45348	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2059.83	40	chr15	99132711	.	A	G	2059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.659;DP=406;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.308;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	5	0	1	0
chr15	99997488	99997488	A	G	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon19:c.T2693C:p.V898A	Weill-Marchesani-like syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	754830	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.253	0.0201417833019	0.0002	0.000599042	0.0007	0	8.726e-05	0.0001	0	0.0003	0.0011	0.0036	0.0005433	84	154602	rs202099735	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0003	0.0032	0.0030	2.987e-05	2.236e-05	0	2.519e-05	3.782e-05	0.0031	0.0002	0.0004	0.0035	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	2.407e-05	0	0.0001	0	0	9.418e-05	0.0034	0.0002	0.0005	0.0035	0.271	0.15984	T	0.011	0.64786	D	0.393	0.34680	B	0.134	0.33146	B	0.045781	0.23502	N	0.372597	0.999996	0.08975	N	1.425	0.35738	L	-0.0	0.62608	T	-0.76	0.21215	N	0.58	0.60156	-0.9900	0.32601	T	0.148	0.47451	T	10	0.014797449	0.00311	T	0.020142	0.42672	T	0.253	0.56294	.	.	0.827348007166	0.82571	0.15537829265778294	0.15458	0.318697235124	0.34087	0.388922989368	0.23518	T	0.01795	0.14556	T	-0.428246	0.01519	T	-0.390659	0.34473	T	0.0647822796994695	0.07899	T	0.755224	0.37818	T	0.09169297	0.21493	0.105991274	0.25491	0.093069576	0.21849	0.10509928	0.25256	-5.814	0.44696	T	.	.	0.249	0.48397	B	.	.	3.031351	0.40608	21.2	0.7352698582617071	0.10360	0.87264	0.46751	D	AEFDGBCIJ	0.839300	0.75672	D	-0.27156151480488	0.30250	1.685027	-0.219586762716545	0.30835	1.739573	0.999999697149024	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	8.313000	0.89896	11.086000	0.85840	0.756000	0.94297	0.999000	0.42656	0.997000	0.33255	0.018000	0.11154	1.0:0.0:0.0:0.0	14.790	0.69455	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	1	0	0	0	0	1	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003817	0.08333	1162.83	37	chr15	99997488	.	A	G	1162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.969;SOR=0.742	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1243	5	0	1	0
chr15	101642618	101642618	T	C	exonic	TM2D3	.	nonsynonymous SNV	TM2D3:NM_025141:exon5:c.A527G:p.D176G,TM2D3:NM_078474:exon6:c.A605G:p.D202G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.0229517141497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	.	.	.	-6.71	0.92518	D	0.932	0.95021	-0.2176	0.77215	T	0.390	0.74445	T	9	0.935084	0.92840	D	0.022952	0.45881	T	0.739	0.90939	0.863	0.95940	0.16115917748	0.15686	0.9638469720786492	0.96371	0.463450813185	0.45851	0.87603366375	0.93419	D	0.294513	0.66720	T	0.449468	0.92459	D	0.407853	0.92366	D	0.998668789863586	0.94798	D	0.997504	0.98978	D	0.9096961	0.92266	0.8214364	0.89631	0.9096961	0.92267	0.8214364	0.89631	-11.356	0.81574	D	.	.	0.997	0.97084	P	.;.;.	.;.;.	5.457139	0.91119	32	0.99858863152920496	0.93729	0.97495	0.75119	D	AEFDGBHIJ	0.919251	0.88950	D	0.755815245447654	0.83283	7.977087	0.732754355254825	0.84865	8.412721	0.999999999999781	0.74766	0.75658	0.98901	0	0.698795	0.70079	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.34	5.34	0.75982	7.812000	0.84643	7.859000	0.71346	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.559	0.61239	940	0.13648	.;TM2 domain;TM2 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	.	.	.	.	.	.	.	.	0.08333	1226.83	34	chr15	101642618	.	T	C	1226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=262;ExcessHet=0;FS=4.518;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.688;SOR=0.349	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	5	0	1	0
chr15	101806039	101806039	T	C	exonic	OR4F6	.	nonsynonymous SNV	OR4F6:NM_001005326:exon1:c.T320C:p.V107A	.	431	1090	1	0	0	1	0.000458505	.	.	.	2338330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00118836432478	.	.	4.942e-05	0	8.637e-05	0	0	5.994e-05	0	6.057e-05	3.88e-05	6	154602	rs572327585	4.994e-05	4.994e-05	4.764e-05	5.225e-05	0.0047	4.059e-05	3.734e-05	0.0033	0.0028	8.961e-05	6.708e-05	0	0	0	0.0047	2.068e-05	0.0001	9.275e-05	3.941e-05	3.937e-05	6.427e-05	1.343e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0102	2.94e-05	0	0	0.096	0.31088	T	0.077	0.42436	T	0.003	0.11197	B	0.005	0.11217	B	0.898840	0.08635	N	0.945499	1	0.08975	N	0.475	0.13142	N	4.97	0.01356	T	-2.75	0.58407	D	0.031	0.00770	-0.9176	0.45877	T	0.005	0.01725	T	10	0.07418695	0.11309	T	0.001188	0.01533	T	0.034	0.08419	.	.	0.12205267543	0.11705	0.07930986626039545	0.07865	0.0133904734343	0.01285	0.216274634004	0.01106	T	0.023247	0.17779	T	-0.441527	0.01267	T	-0.669345	0.07650	T	0.0226853005588055	0.00986	T	0.639636	0.25265	T	0.13099061	0.30548	0.15625119	0.36590	0.13099061	0.30548	0.15625119	0.36590	-4.607	0.32260	T	.	.	0.079	0.07083	B	.	.	0.077055	0.04842	1.438	0.50739710598357146	0.04438	0.12503	0.17308	N	AEFDBI	0.055825	0.10270	N	-0.981726871558995	0.08994	0.4238826	-0.973571474905704	0.10380	0.5224781	0.0041903628752236	0.10449	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.52	0.39415	0.442000	0.21343	0.426000	0.18273	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.0:0.1019:0.0:0.8981	7.210	0.25103	840	0.37365	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	0	0	1	0	0.005035	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.000000	0.08333	2292.83	151	chr15	101806039	.	T	C	2292.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.48;DP=330;ExcessHet=0;FS=2.042;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.568;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	5	0	1	0
chr16	58401	58401	G	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon18:c.C2507A:p.T836N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0146389803185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.05755	T	0.96	0.02548	T	0.167	0.28604	B	0.07	0.27859	B	0.000000	0.84330	N	0.049420	1	0.81001	D	1.175	0.29870	L	0.84	0.47477	T	1.35	0.00889	N	0.853	0.84922	-1.0427	0.16503	T	0.094	0.35631	T	10	0.450723	0.58681	T	0.014639	0.34889	T	0.182	0.45420	0.404	0.43573	0.558966020747	0.55556	0.9459296857039559	0.94574	1.13984766701	0.78886	0.774258375168	0.78063	T	0.01876	0.15068	T	-0.0438528	0.45374	T	-0.300768	0.44644	T	0.600715339183807	0.36429	D	0.923508	0.72088	D	0.291607	0.52142	0.21261644	0.45738	0.291607	0.52142	0.21261644	0.45737	-5.794	0.44522	T	.	.	0.393	0.59199	A	.	.	4.172970	0.62756	24.5	0.87652278567074327	0.17382	0.95078	0.63357	D	AEFGBCI	0.931338	0.92000	D	-0.0323485830046644	0.40393	2.398098	0.156395647056175	0.47483	2.977737	0.999999999999976	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.795000	0.84442	11.792000	0.96402	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.790	0.88459	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	120.83	34	chr16	58401	.	G	T	120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.031;DP=300;ExcessHet=0;FS=73.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.617;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	5	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.08333	817.83	96	chr16	377699	.	C	G	817.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.023;DP=386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/1:35,35:70:99:828,0,859	5	0	1	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A,RAB11FIP3:NM_014700:exon1:c.C424G:p.P142A	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008682	0.000000	0.004098	0.014881	0.000000	0.017857	0.012500	0.015152	0.1667	2430.04	34	chr16	426430	.	C	G	2430.04	.	AC=2;AF=0.167;AN=12;DP=259;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.97;SOR=1.051	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,981	5	1	0	0
chr16	503035	503035	G	A	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001142272:exon5:c.G403A:p.E135K,RAB11FIP3:NM_014700:exon7:c.G1333A:p.E445K,RAB11FIP3:NM_001370401:exon8:c.G1468A:p.E490K	.	371	1149	2	0	0	2	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.00740918990839	0.0003	0.000199681	0.0002	9.718e-05	0.0002	0	0	0.0003	0.0011	0.0002	0.0001876	29	154602	rs143162766	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	2.988e-05	0.0001	0	0	0	0.0031	0.0001	0.0002	0.0005	8.536e-05	9.186e-05	7.709e-05	9.4e-05	0.0002	4.954e-05	3.96e-05	9.049e-05	7.013e-05	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.143	0.41915	T	0.209	0.45110	T	0.956	0.54666	P	0.275	0.40079	B	.	.	.	.	0.982724	0.39926	D	2.075	0.57047	M	.	.	.	-1.71	0.51646	N	0.26	0.30914	-0.7760	0.56526	T	0.227	0.59196	T	8	0.117593735	0.22213	T	0.007409	0.19657	T	0.222	0.51872	.	.	0.228066490088	0.22430	0.2647456587708972	0.26387	0.423747058533	0.42824	0.532874643803	0.43439	T	0.031667	0.22147	T	-0.182073	0.23428	T	-0.183156	0.56229	T	0.0697041159921108	0.08609	T	.	.	.	0.26452324	0.49519	0.27445152	0.53373	0.26452324	0.49519	0.27445152	0.53372	-5.29	0.39844	T	.	.	0.255	0.49018	B	.;.;.;.;.	.;.;.;.;.	4.439820	0.68917	25.3	0.99920182065051955	0.98721	0.97140	0.72924	D	AEFDBCI	0.842777	0.75986	D	0.42600783198415	0.62856	4.508674	0.529943737931578	0.70015	5.443328	0.999999999999759	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	5.001000	0.63693	11.515000	0.93020	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	16.761	0.85372	819	0.41190	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1197.83	39	chr16	503035	.	G	A	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.369;DP=301;ExcessHet=0;FS=3.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.056;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr16	548057	548057	C	T	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.C1219T:p.R407C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.160844737568	.	0.000199681	6.231e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs561151762	2.076e-05	2.257e-05	2.545e-05	1.596e-05	2.516e-05	1.457e-05	1.26e-05	1.503e-05	1.263e-05	0	0	0	0	0	0	2.222e-05	5.201e-05	2.516e-05	1.969e-05	1.968e-05	2.569e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.132	0.26519	T	0.059	0.45961	T	0.004	0.12183	B	0.001	0.04355	B	0.594435	0.05610	N	1.338600	0.999838	0.20152	N	1.04	0.26193	L	-2.55	0.89561	D	-2.02	0.46503	N	0.197	0.21710	-0.4865	0.69133	T	0.537	0.82868	D	10	0.06366378	0.08326	T	0.160845	0.84076	D	0.175	0.44197	0.406	0.43902	0.0675242888579	0.06100	0.445726204898726	0.44490	.	.	0.523996651173	0.42189	T	0.026005	0.19333	T	-0.388056	0.02768	T	-0.598221	0.12961	T	0.0586680725790068	0.06957	T	0.80172	0.44782	T	0.06986614	0.15343	0.05189354	0.08443	0.06986614	0.15343	0.05189354	0.08443	-5.51	0.41961	T	.	.	0.112	0.21987	B	.	.	1.864209	0.23680	16.11	0.98454114183508112	0.41654	0.17905	0.20037	N	AEFBI	0.109367	0.21725	N	-0.816865916717592	0.12879	0.6307116	-0.826662785797401	0.13850	0.7206791	0.74502589857276	0.23271	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.61	3.62	0.40616	0.996000	0.29320	1.477000	0.26794	0.535000	0.24933	0.021000	0.19753	0.999000	0.35428	0.028000	0.12845	0.0:0.792:0.0:0.208	7.567	0.27050	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1261.83	35	chr16	548057	.	C	T	1261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0.671;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1279	5	0	1	0
chr16	791914	791914	C	T	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon9:c.C1168T:p.H390Y	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.321615525617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225257551	3.43e-06	3.42e-06	1.364e-06	5.52e-06	0.0002	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	1.66e-05	1.172e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.102530	1	0.81001	D	1.92	0.51302	L	-3.11	0.92721	D	-5.07	0.82830	D	0.631	0.76296	0.835	0.94843	D	0.832	0.94359	D	10	0.7925717	0.78789	D	0.321616	0.91491	D	0.717	0.89966	0.552	0.66856	0.486993258117	0.48330	0.7767486852035991	0.77624	.	.	0.752134919167	0.74762	T	0.606467	0.87464	D	0.19	0.72963	D	0.138089	0.79421	D	0.981397271156311	0.73887	D	0.993042	0.97754	D	0.7431619	0.80473	0.6144834	0.77562	0.7431619	0.80475	0.6144834	0.77563	-12.285	0.86291	D	.	.	0.509	0.66168	A	.;.;.;.	.;.;.;.	4.157575	0.62416	24.5	0.99558118314254629	0.71583	0.95139	0.63581	D	AEFBHCI	0.908687	0.86431	D	0.463630553112402	0.64980	4.76534	0.355454822663368	0.58836	4.056876	0.999999999999795	0.74766	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	5.04	5.04	0.67293	7.759000	0.84086	7.536000	0.59999	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:1.0:0.0:0.0	15.880	0.78980	794	0.45591	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2973.04	36	chr16	791914	.	C	T	2973.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.03;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1261	5	1	0	0
chr16	870792	870792	C	T	exonic	LMF1	.	nonsynonymous SNV	LMF1:NM_001352019:exon8:c.G842A:p.R281K,LMF1:NM_001352020:exon8:c.G1169A:p.R390K,LMF1:NM_001352021:exon8:c.G518A:p.R173K,LMF1:NM_022773:exon8:c.G1169A:p.R390K,LMF1:NM_001352017:exon9:c.G518A:p.R173K,LMF1:NM_001352018:exon9:c.G770A:p.R257K	Lipase deficiency, combined, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00333117436744	.	.	8.372e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs751552083	6.847e-07	6.841e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.09746	T	0.609	0.17064	T	0.001	0.07471	B	0.003	0.08700	B	0.375752	0.13461	N	0.742304	0.999959	0.19072	N	0.675	0.16386	N	2.03	0.20959	T	-1.38	0.34795	N	0.151	0.15469	-1.0002	0.29860	T	0.022	0.09421	T	10	0.37508142	0.53770	T	0.003331	0.07421	T	0.092	0.26621	0.721	0.85585	0.107399877778	0.10242	0.5329121802128247	0.53216	0.0194653818136	0.01906	0.193875089288	0.00301	T	0.03659	0.24160	T	-0.422762	0.01643	T	-0.762179	0.03035	T	0.0423868241771253	0.04125	T	0.744825	0.36507	T	0.054414466	0.10438	0.053012237	0.08847	0.054414466	0.10437	0.053012237	0.08846	-4.664	0.34452	T	.	.	0.082	0.22500	B	.;.;.	.;.;.	-1.122890	0.00614	0.016	0.6149820472801919	0.06724	0.03284	0.08331	N	AEFBI	0.070489	0.13996	N	-1.94500570023666	0.00277	0.01187845	-2.06326446650796	0.00224	0.009872192	0.998549557068887	0.37167	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.48	-11.0	0.00133	-2.223000	0.01297	-4.235000	0.02266	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0875:0.5563:0.0947:0.2614	9.560	0.38527	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1730.83	34	chr16	870792	.	C	T	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=310;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.43;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	5	0	1	0
chr16	984940	984940	C	T	exonic	SOX8	.	nonsynonymous SNV	SOX8:NM_014587:exon3:c.C895T:p.P299S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0258133012599	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372013567	1.381e-06	4.789e-06	1.372e-06	1.389e-06	1.809e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.809e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.304	0.14303	T	0.188	0.28669	T	0.036	0.20732	B	0.012	0.16012	B	0.401776	0.04538	N	1.339300	0.999935	0.19363	N	-0.69	0.01958	N	-0.97	0.75670	T	-0.83	0.22727	N	0.063	0.03502	-0.9503	0.40920	T	0.179	0.52489	T	10	0.071636826	0.10587	T	0.025813	0.48759	D	0.154	0.40340	0.185	0.09388	0.236619781664	0.23270	0.18593160483531868	0.18511	0.213037995034	0.23811	0.734236478806	0.72125	T	0.106817	0.41849	T	-0.133824	0.30879	T	-0.430006	0.29935	T	0.0762357860803604	0.09498	T	0.358964	0.08219	T	0.025838785	0.01567	0.03310397	0.02151	0.025838785	0.01567	0.03310397	0.02151	-5.408	0.40996	T	.	.	0.063	0.01512	B	.	.	1.182873	0.15737	12.07	0.8119996578779265	0.13568	0.19236	0.20582	N	AEFDBI	0.142623	0.26512	N	-1.06363350956727	0.07322	0.3397999	-0.968816921368048	0.10490	0.5286514	0.99954096017712	0.40300	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.95	2.99	0.33673	0.551000	0.23068	0.364000	0.17606	-0.198000	0.09030	0.748000	0.29111	0.882000	0.27718	0.004000	0.06068	0.0:0.7511:0.1576:0.0913	8.241	0.30822	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	0.000507	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	964.83	37	chr16	984940	.	C	T	964.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.252;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.26;SOR=0.793	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	5	0	1	0
chr16	1211517	1211517	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon23:c.G4387A:p.D1463N,CACNA1H:NM_021098:exon23:c.G4387A:p.D1463N	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	714724	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.559	0.107019379893	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0015	0.0002005	31	154602	rs542245543	0.0001	0.0001	6.405e-05	0.0001	0.0013	8.79e-05	8.276e-05	0.0011	0.0011	0	2.237e-05	0	5.039e-05	0	0.0003	1.979e-05	9.944e-05	0.0013	9.849e-05	9.844e-05	7.708e-05	0.0001	0.0014	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0.0001	0	0.0002	0	0	5.881e-05	0.0005	0.0014	0.197	0.20607	T	0.179	0.29540	T	0.999	0.77913	D	0.962	0.70672	D	0.036259	0.24545	N	0.436139	0.999295	0.46578	D	1.085	0.27262	L	-4.89	0.98313	D	-4.18	0.75537	D	0.605	0.68169	1.047	0.98048	D	0.926	0.97568	D	10	0.2946446	0.47036	T	0.107019	0.78290	D	0.559	0.81888	0.773	0.89924	0.882057289649	0.88090	0.7304608920110456	0.72991	.	.	0.708253145218	0.68341	T	0.776562	0.94063	D	-0.231673	0.16429	T	-0.140937	0.60036	T	0.274511307477951	0.23939	T	0.972203	0.89922	D	0.27241325	0.50311	0.23776823	0.49082	0.2666221	0.49733	0.236766	0.48956	-7.467	0.59008	T	0.2926297351955737	0.38935	0.159	0.35183	B	.;.;.;.	.;.;.;.	4.599355	0.72823	25.9	0.99423473693900821	0.63887	0.94538	0.61490	D	AEFBCI	0.899163	0.84324	D	0.236166521376934	0.52959	3.467065	0.231000056233872	0.51576	3.338923	0.999990341096675	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.99	3.99	0.45527	7.910000	0.86855	9.745000	0.81450	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:1.0:0.0	15.576	0.76129	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	605.83	37	chr16	1211517	.	G	A	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.644;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.222;SOR=0.577	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	5	0	1	0
chr16	1344490	1344490	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon17:c.G1516A:p.D506N,BAIAP3:NM_001199097:exon18:c.G1624A:p.D542N,BAIAP3:NM_001199098:exon18:c.G1555A:p.D519N,BAIAP3:NM_001199099:exon18:c.G1540A:p.D514N,BAIAP3:NM_001286464:exon18:c.G1675A:p.D559N,BAIAP3:NM_003933:exon18:c.G1729A:p.D577N	.	396	1110	16	0	0	16	0.00715564	.	.	.	2810774	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.117	0.115204881027	0.0027	0.000798722	0.0024	0.0004	0.0012	0.0001	0.0003	0.0037	0.0011	0.0016	0.0024321	376	154602	rs114280977	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0003	0.0022	0.0052	2.52e-05	0.0003	0.0031	0.0035	0.0030	0.0019	0.0024	0.0024	0.0027	0.0020	0.0038	0.0022	0.0021	0.0034	0.0033	0.0006	0.0077	0.0022	0.0069	0	0.0005	0.0102	0.0038	0.0024	0.0008	0.087	0.32453	T	0.097	0.39190	T	0.013	0.16609	B	0.01	0.14941	B	0.003961	0.34294	N	0.309329	0.927382	0.36863	D	1.01	0.25309	L	-0.56	0.71425	T	-1.47	0.35991	N	0.174	0.21319	-1.0774	0.07861	T	0.014	0.05753	T	10	0.0071493685	0.00162	T	0.115205	0.79431	D	0.117	0.32689	.	.	0.809614589059	0.80783	0.19950508003821626	0.19867	0.0853200097847	0.09642	0.451802194118	0.32189	T	0.030471	0.21593	T	-0.534553	0.00361	T	-0.54273	0.18029	T	0.0126203481562903	0.00211	T	0.790321	0.43084	T	0.049707748	0.08869	0.045687936	0.06204	0.049707748	0.08868	0.045687936	0.06203	-3.799	0.23293	T	.	.	0.113	0.26762	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.991757	0.25307	16.71	0.99397708993418088	0.62656	0.50134	0.28593	D	AEFGBCI	0.234568	0.35730	N	-0.709795664882353	0.15746	0.7962351	-0.714674031282023	0.16596	0.8786688	0.999982806277748	0.51787	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.17	2.18	0.26813	1.938000	0.39831	4.777000	0.44811	0.604000	0.46097	0.941000	0.32681	1.000000	0.68203	0.352000	0.25704	0.2302:0.0:0.7698:0.0	6.656	0.22179	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.014946	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1438.83	112	chr16	1344490	.	G	A	1438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=309;ExcessHet=0;FS=1.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.503;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	5	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2638.05	74	chr16	1397277	.	A	*	2638.05	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.44;DP=305;ExcessHet=0.2119;FS=2.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.99;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:24,0:45:99:0|1:1397277_A_G:697,769,1622:1397277	3	1	1	1
chr16	1571518	1571518	A	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon14:c.T1541A:p.L514H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	6	1481	32	3	0	38	0.0126667	.	.	YES	272286	not_specified|Saldino-Mainzer_syndrome|IFT140-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.455	.	0.0017	0.00199681	0.0043	0.0005	0.0008	0	0.0153	0.0049	0.0044	0.0046	0.0037516	580	154602	rs150903791	0.0029	0.0029	0.0029	0.0030	0.0231	0.0029	0.0028	0.0199	0.0187	0.0011	0.0010	0.0031	2.519e-05	0.0150	0.0231	0.0024	0.0030	0.0040	0.0030	0.0030	0.0022	0.0038	0.0044	0.0028	0.0027	0.0029	0.0024	0.0003	0	0.0014	0.0029	0	0.0195	0.0340	0.0025	0.0028	0.0044	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.979	0.74454	D	0.000077	0.52346	D	0.081002	0.999981	0.54805	D	2.505	0.72935	M	0.26	0.59314	T	-2.9	0.60827	D	0.597	0.61596	-0.1682	0.78472	T	0.402	0.75288	T	10	0.011529267	0.00251	T	.	.	.	0.455	0.75415	.	.	0.908992176636	0.90808	0.4920386895560723	0.49124	0.152153152439	0.17166	0.756964325905	0.75478	T	0.179384	0.53035	T	-0.291607	0.09475	T	-0.191383	0.55460	T	0.0393382414440502	0.03572	T	0.817118	0.47377	T	0.58520865	0.71892	0.6023714	0.76894	0.58520865	0.71893	0.6023714	0.76895	-10.822	0.78672	D	0.4651949327611722	0.54666	0.201	0.42520	B	.	.	4.586692	0.72512	25.8	0.98270478578074383	0.39759	0.90525	0.51773	D	AEFBI	0.496167	0.53122	N	0.771636998223519	0.84304	8.250805	0.73884982458984	0.85323	8.545912	0.891748504960808	0.25867	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	5.826000	0.68980	10.948000	0.84382	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.749	0.77734	616	0.66398	.	.	.	.	.	.	Likely benign	0	0	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	0.023162	0.005051	0.023098	0.043860	0.050000	0.025862	0.018293	0.011364	0.08333	724.83	33	chr16	1571518	.	A	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.721;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=0.858;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	5	0	1	0
chr16	1822354	1822354	G	A	exonic	HAGH	.	nonsynonymous SNV	HAGH:NM_001286249:exon3:c.C260T:p.A87V,HAGH:NM_001363912:exon3:c.C260T:p.A87V,HAGH:NM_005326:exon3:c.C260T:p.A87V,HAGH:NM_001040427:exon4:c.C116T:p.A39V,HAGH:NM_001363914:exon4:c.C116T:p.A39V	.	8	1503	10	1	0	12	0.00397614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0442091947007	7.7e-05	.	4.186e-05	0	8.676e-05	0	0	6.108e-05	0	0	3.23e-05	5	154602	rs201035358	8.092e-05	8.277e-05	7.508e-05	8.682e-05	0.0009	6.885e-05	6.436e-05	0.0003	0.0002	5.982e-05	0	0	2.519e-05	0	0.0009	8.828e-05	0.0002	1.16e-05	4.597e-05	4.593e-05	3.855e-05	5.373e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0.0034	7.351e-05	0	0	0.434	0.11994	T	0.434	0.19908	T	0.401	0.34877	B	0.04	0.23831	B	0.008987	0.30568	N	0.388603	0.999992	0.19238	N	1.115	0.28702	L	-3.81	0.95728	D	-1.78	0.44471	N	0.314	0.36569	-0.0297	0.81637	T	0.685	0.89125	D	10	0.16900414	0.31484	T	0.044209	0.61373	D	0.348	0.66956	.	.	0.752388196393	0.75015	0.5624731241048655	0.56174	0.049690005848	0.05445	0.271660506725	0.06359	T	0.319778	0.69103	T	-0.0358036	0.46570	T	-0.107059	0.62845	T	0.0645660161972046	0.07866	T	0.90141	0.66829	D	0.050169047	0.09022	0.037674222	0.03472	0.050169047	0.09021	0.037674222	0.03471	-4.915	0.40804	T	.	.	0.087	0.25166	B	.;.;.;.;.	.;.;.;.;.	1.834673	0.23309	15.97	0.68844754587885548	0.08784	0.34535	0.25090	N	AEFDGBI	0.268892	0.38529	N	-0.818153203543458	0.12846	0.6288887	-0.884942443210969	0.12450	0.6404949	0.922577485468689	0.26713	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	0.756	0.17569	2.731000	0.47015	1.400000	0.26189	-0.128000	0.13240	0.131000	0.23362	0.001000	0.17328	0.001000	0.02609	0.2305:0.0:0.6397:0.1298	5.905	0.18235	620	0.66037	Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	353.83	38	chr16	1822354	.	G	A	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.114;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.234;SOR=0.693	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,781	5	0	1	0
chr16	1911870	1911870	T	C	exonic	HS3ST6	.	nonsynonymous SNV	HS3ST6:NM_001009606:exon2:c.A749G:p.E250G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.240693453082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	2.733e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	3.883e-05	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.53426	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.050712	1	0.81001	D	3.16	0.88528	M	.	.	.	.	.	.	0.911	0.91276	0.381	0.88808	D	0.595	0.85543	D	10	0.9943797	0.99939	D	0.240693	0.88685	D	0.817	0.94123	0.927	0.98806	0.775605188755	0.77353	0.7649399129830365	0.76442	.	.	0.550078868866	0.45869	T	0.651821	0.89444	D	0.328958	0.85091	D	0.234749	0.84895	D	0.993109583854675	0.83778	D	.	.	.	0.75215644	0.80993	0.743278	0.84825	0.75215644	0.80995	0.743278	0.84826	-10.766	0.78359	D	.	.	0.833	0.78873	P	.	.	4.658163	0.74329	26.1	0.99863344443137736	0.94184	0.90018	0.50874	D	AEFDBHCI	0.770004	0.70508	D	0.66513735147567	0.77354	6.658216	0.541315990847542	0.70795	5.558009	0.999998903875755	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	7.810000	0.84617	7.694000	0.65937	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0:0.0:0.0:1.0	13.641	0.61723	623	0.65786	Sulfotransferase 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	.	.	.	.	.	.	.	.	0.08333	1193.83	83	chr16	1911870	.	T	C	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.564;DP=384;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.939;SOR=0.626	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1570	5	0	1	0
chr16	2020104	2020104	C	T	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.C203T:p.A68V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0402748117764	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1280448650	4.434e-06	1.163e-05	1.459e-06	7.487e-06	2.646e-05	1.6e-06	1.05e-06	4.39e-06	1.64e-06	0	0	0	0	0	0	3.743e-06	0	2.646e-05	6.589e-06	6.572e-06	1.287e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.088	0.32296	T	0.273	0.22154	T	0.818	0.45651	P	0.103	0.30945	B	0.674865	0.06057	U	1.227470	1	0.08975	N	0.55	0.14455	N	0.78	0.49358	T	-2.92	0.61129	D	.	.	-1.0481	0.14932	T	0.048	0.20395	T	10	0.12540063	0.23829	T	0.040275	0.59286	D	0.021	0.04004	.	.	0.333154297509	0.32921	0.07452638727128963	0.07388	.	.	0.735386788845	0.72294	T	0.009202	0.08389	T	-0.256155	0.13354	T	-0.605726	0.12335	T	0.0678110427140385	0.08341	T	0.354665	0.08016	T	0.027654776	0.01988	0.045634784	0.06183	0.027654776	0.01988	0.045634784	0.06182	-5.679	0.43506	T	.	.	0.151	0.33458	B	.;.	.;.	1.674270	0.21346	15.16	0.98527382119140827	0.42545	0.06439	0.12445	N	AEFDBCI	0.041009	0.06178	N	-0.759407416074323	0.14379	0.7157883	-0.863984892262917	0.12952	0.6692186	0.999999964038638	0.74766	0.65757	0.49021	0	0.627178	0.54094	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	3.46	1.38	0.21262	0.031000	0.13598	0.012000	0.13456	0.507000	0.23093	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6274:0.239:0.1336	4.634	0.11900	702	0.57624	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	422.83	34	chr16	2020104	.	C	T	422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=190;ExcessHet=0;FS=3.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.933;SOR=0.204	GT:AD:DP:GQ:PL	0/0:36,0:36:90:0,90,867	5	0	1	0
chr16	2084981	2084983	CTT	-	exonic	TSC2	.	nonframeshift deletion	TSC2:NM_001318831:exon31:c.3792_3794del:p.F1266del,TSC2:NM_001318827:exon32:c.4215_4217del:p.F1407del,TSC2:NM_001318829:exon32:c.4179_4181del:p.F1395del,TSC2:NM_001077183:exon33:c.4323_4325del:p.F1443del,TSC2:NM_001318832:exon33:c.4356_4358del:p.F1454del,TSC2:NM_001363528:exon33:c.4326_4328del:p.F1444del,TSC2:NM_001114382:exon34:c.4455_4457del:p.F1487del,TSC2:NM_001370404:exon34:c.4392_4394del:p.F1466del,TSC2:NM_001370405:exon34:c.4395_4397del:p.F1467del,TSC2:NM_021055:exon34:c.4395_4397del:p.F1467del,TSC2:NM_000548:exon35:c.4524_4526del:p.F1510del	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1486	36	0	0	36	0.0119681	.	.	.	58464	Lung_lymphangioleiomyomatosis|Tuberous_sclerosis_2|Hereditary_cancer-predisposing_syndrome|not_specified|Tuberous_sclerosis_syndrome|not_provided	MONDO:MONDO:0006277,MedGen:C0349649,Orphanet:538|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0044	0.00399361	0.0053	0.0007	0.0010	0.0001	0.0053	0.0065	0.0045	0.0094	0.0006147	16	26028	rs137854239	0.0054	0.0054	0.0051	0.0056	0.0099	0.0053	0.0052	0.0094	0.0091	0.0006	0.0015	0.0338	7.557e-05	0.0048	0.0069	0.0048	0.0075	0.0099	0.0036	0.0036	0.0035	0.0038	0.0091	0.0034	0.0033	0.0070	0.0062	0.0006	0	0.0021	0.0302	0.0004	0.0061	0.0136	0.0039	0.0024	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	3695.79	215	chr16	2084980	.	CCTT	C	3695.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.14;DP=398;ExcessHet=0;FS=0.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.505;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	5	0	1	0
chr16	2088096	2088096	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.G4385A:p.R1462H,TSC2:NM_001318827:exon37:c.G4808A:p.R1603H,TSC2:NM_001318829:exon37:c.G4772A:p.R1591H,TSC2:NM_001077183:exon38:c.G4916A:p.R1639H,TSC2:NM_001318832:exon38:c.G4949A:p.R1650H,TSC2:NM_001363528:exon38:c.G4919A:p.R1640H,TSC2:NM_001114382:exon39:c.G5048A:p.R1683H,TSC2:NM_001370404:exon39:c.G4985A:p.R1662H,TSC2:NM_001370405:exon39:c.G4988A:p.R1663H,TSC2:NM_021055:exon39:c.G4988A:p.R1663H,TSC2:NM_000548:exon40:c.G5117A:p.R1706H	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	58618	Tuberous_sclerosis_syndrome|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|not_provided|Ovarian_cancer|TSC2-related_disorder|Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.603	0.0700155671428	.	0.000199681	5.831e-05	0	0	0	0	6.097e-05	0.0011	0.0001	5.82e-05	9	154602	rs45517392	9.791e-05	9.919e-05	0.0001	9.221e-05	0.0005	8.451e-05	7.928e-05	0.0001	7.541e-05	0	0.0001	0	0	5.756e-05	0.0005	9.622e-05	0.0003	8.115e-05	7.221e-05	7.218e-05	8.992e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.821e-05	0	0.0002	0.109	0.31532	T	0.043	0.50514	D	0.01	0.15535	B	0.007	0.12992	B	0.022613	0.26600	N	0.342750	0.992287	0.41604	D	1.095	0.27400	L	-3.59	0.94975	D	-1.59	0.45949	N	0.58	0.60156	0.105	0.84272	D	0.672	0.88650	D	10	0.21449265	0.37973	T	0.070016	0.70887	D	0.603	0.84345	0.51	0.60693	0.967183185669	0.96683	0.4366113362109103	0.43578	.	.	0.342073023319	0.16748	T	0.845342	0.96430	D	0.0768075	0.61665	D	0.141852	0.79665	D	0.0560189597308636	0.06528	T	0.90141	0.67446	D	0.14639221	0.33515	0.06258713	0.12267	0.19125472	0.40745	0.0706193	0.15024	-6.304	0.49992	T	0.23275594817303685	0.31504	0.075	0.14797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.530993	0.49542	22.8	0.99446760388939814	0.65071	0.75809	0.37137	D	AEFDGBCI	0.411570	0.48199	N	-0.142331394342387	0.35562	2.044224	0.00356565001258005	0.39880	2.371379	0.999999949781252	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	3.502000	0.53092	4.460000	0.43455	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.2457:0.0:0.7543:0.0	6.065	0.19085	779	0.47767	Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1518.83	157	chr16	2088096	.	G	A	1518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.342;DP=337;ExcessHet=0;FS=1.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.058;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I,PKD1:NM_001009944:exon45:c.G12436A:p.V4146I	Polycystic kidney disease, adult type I, Autosomal dominant	0	1451	67	4	0	75	0.0251931	.	.	.	255509	Polycystic_kidney_disease,_adult_type|Polycystic_kidney_disease|not_provided|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|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|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	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	0.014099	0.000000	0.016349	0.005848	0.050000	0.025862	0.024390	0.015152	0.1667	2877.04	62	chr16	2090293	.	C	T	2877.04	.	AC=2;AF=0.167;AN=12;DP=298;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.61;SOR=0.924	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	5	1	0	0
chr16	2264278	2264278	C	T	exonic	RNPS1	.	nonsynonymous SNV	RNPS1:NM_001286626:exon2:c.G56A:p.R19H,RNPS1:NM_001286627:exon2:c.G56A:p.R19H,RNPS1:NM_001286625:exon3:c.G125A:p.R42H,RNPS1:NM_006711:exon3:c.G125A:p.R42H,RNPS1:NM_080594:exon3:c.G125A:p.R42H	.	.	.	.	.	.	.	.	.	.	.	3906015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0224637347743	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371866900	2.052e-05	2.052e-05	1.906e-05	2.2e-05	2.248e-05	1.456e-05	1.264e-05	1.543e-05	1.304e-05	0	0	3.826e-05	0	0	0	2.248e-05	6.623e-05	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0	0.004	0.91255	D	0.124	0.92824	T	0.995	0.70673	D	0.964	0.76113	D	0.000001	0.84330	D	0.053655	0.999998	0.81001	D	2.215	0.62545	M	3.26	0.09635	T	-1.38	0.82341	N	0.56	0.58713	-1.1819	0.00342	T	0.073	0.29610	T	10	0.36009577	0.52662	T	0.022464	0.45362	T	0.153	0.40148	0.349	0.34598	0.511085392132	0.50748	0.25887386869919055	0.25801	0.578992520332	0.53787	0.868625223637	0.92371	D	0.107706	0.49407	T	-0.0511597	0.44270	T	-0.247618	0.50053	T	0.724794745445251	0.41942	D	0.959904	0.90741	D	0.37403104	0.58881	0.15459605	0.36275	0.37403104	0.58882	0.15459605	0.36275	-6.338	0.54252	T	.	.	0.347	0.75042	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.334599	0.66445	25.0	0.99947678643767435	0.99923	0.96819	0.71109	D	AEFBHCI	0.713125	0.66603	D	0.772533592891677	0.84361	8.266738	0.760160750971382	0.86913	9.044747	0.999999999999766	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.557000	0.67018	7.615000	0.62066	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.303	0.87074	546	0.72524	.;.;.;.;.;.;.;.;.;.;.;.;REJ domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1562.83	37	chr16	2264278	.	C	T	1562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.43;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1120	5	0	1	0
chr16	2472237	2472237	C	G	exonic	NTN3	.	nonsynonymous SNV	NTN3:NM_006181:exon1:c.C536G:p.P179R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.316942225475	.	0.000199681	8.788e-06	0	0	0	0	0	0	6.269e-05	1.29e-05	2	154602	rs545535997	6.858e-07	6.84e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.189	0.28575	T	0.009	0.15093	B	0.015	0.17295	B	0.004864	0.33312	N	0.226308	0.653279	0.30514	N	1.52	0.38360	L	-0.87	0.74583	T	-1.11	0.28703	N	0.374	0.41557	-0.7041	0.60241	T	0.220	0.58279	T	10	0.12867928	0.24479	T	0.316942	0.91358	D	0.199	0.48268	0.468	0.54052	0.593515057505	0.59029	0.6439966703842033	0.64334	0.960014947929	0.72969	0.807551503181	0.83116	D	0.184599	0.53731	T	-0.166205	0.25810	T	-0.375889	0.36202	T	0.122750362945963	0.14697	T	0.662834	0.27173	T	0.07978534	0.18245	0.13097674	0.31461	0.07978534	0.18245	0.13097674	0.31460	-4.471	0.30507	T	.	.	0.110	0.21315	B	.	.	3.703755	0.52842	23.3	0.95040711359419594	0.26046	0.75816	0.37141	D	AEFDBHCI	0.281136	0.39479	N	-0.365088541721292	0.26721	1.460531	-0.287767931909141	0.28500	1.589592	0.999995492986874	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.95	2.97	0.33479	1.738000	0.37831	3.507000	0.38815	0.533000	0.24879	0.733000	0.28953	0.998000	0.33993	0.528000	0.29660	0.1742:0.726:0.0:0.0998	6.833	0.23102	705	0.57330	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2008.83	33	chr16	2472237	.	C	G	2008.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=346;ExcessHet=0;FS=1.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.978;SOR=0.76	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2019,0,2060	5	0	1	0
chr16	2764546	2764546	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G4018T:p.G1340C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00565604261989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0005	1e-06	7.3e-07	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	0.047189	0.01969	U	2.908340	1	0.08975	N	0	0.06538	N	1.87	0.24085	T	-0.08	0.08187	N	0.181	0.19593	-1.0115	0.26447	T	0.036	0.15334	T	10	0.050860524	0.04881	T	0.005656	0.14621	T	0.041	0.10877	0.159	0.06287	0.124217242631	0.12060	0.112645657264346	0.11193	.	.	0.278019070625	0.07217	T	0.086893	0.37823	T	-0.242562	0.15024	T	-0.5862	0.13997	T	0.0900794294284495	0.11228	T	0.466353	0.13696	T	0.20239106	0.42283	0.05369827	0.09097	0.20239106	0.42282	0.05369827	0.09096	-5.13	0.38221	T	.	.	0.091	0.13268	B	.	.	1.027513	0.14072	10.64	0.93408250283808447	0.23170	0.28348	0.23529	N	AEFGBCI	0.106092	0.21179	N	-1.09487326050926	0.06737	0.3109914	-1.07817687731283	0.08131	0.3984396	0.999906385531297	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.01	-0.122	0.12871	-0.462000	0.06781	0.957000	0.22964	-0.113000	0.14837	0.000000	0.06391	0.162000	0.23270	0.088000	0.17685	0.2343:0.1218:0.3953:0.2486	1.282	0.01918	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1575.83	78	chr16	2764546	.	G	T	1575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.135;DP=441;ExcessHet=0;FS=4.514;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.376;SOR=0.386	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	0
chr16	2765312	2765312	G	A	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G4784A:p.R1595H	.	428	1058	34	2	0	38	0.0176416	.	.	.	797296	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00368844062729	7.7e-05	0.000998403	0.0014	9.643e-05	0.0005	0	0	0.0005	0.0033	0.0079	0.0012225	189	154602	rs200200979	0.0008	0.0008	0.0005	0.0010	0.0085	0.0007	0.0007	0.0079	0.0077	0.0003	0.0003	0.0023	0	0	0.0042	0.0002	0.0013	0.0085	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	0.0003	0	0.0001	0.0017	0	0	0	0.0002	0	0.0077	.	.	.	0.081	0.41742	T	0.002	0.09854	B	0.001	0.04355	B	0.020652	0.26995	N	0.323172	0.999999	0.08975	N	0.41	0.12415	N	1.54	0.30133	T	-0.7	0.19933	N	0.142	0.14196	-1.0345	0.19014	T	0.060	0.25127	T	10	0.0046723187	0.00098	T	0.003688	0.08527	T	0.026	0.05648	.	.	0.146414634003	0.14194	0.1364431615838375	0.13568	.	.	0.271656274796	0.06358	T	0.190352	0.54487	T	-0.609197	0.00128	T	-0.642718	0.09472	T	0.00358669416451388	0.00038	T	0.749925	0.37107	T	0.12951244	0.30247	0.051445775	0.08282	0.12951244	0.30247	0.051445775	0.08282	-5.79	0.44487	T	.	.	0.073	0.04681	B	.	.	1.644181	0.20984	15.00	0.85531461500215655	0.15951	0.54103	0.29534	D	AEFDGBCI	0.115013	0.22631	N	-0.707000716701725	0.15825	0.8009362	-0.710117507493587	0.16709	0.8851789	0.999994791410171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	2.24	0.27264	-0.049000	0.11879	0.420000	0.18209	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0811:0.0:0.6122:0.3067	7.373	0.25986	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.022727	0.1667	6495.06	235	chr16	2765312	.	G	A	6495.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=710;ExcessHet=0.4139;FS=1.75;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.301;SOR=0.566	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	4	0	2	0
chr16	2767906	2767906	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C7378T:p.R2460C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0422206672784	7.7e-05	0.000399361	3.295e-05	9.612e-05	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs370096638	3.42e-05	3.42e-05	3.539e-05	3.3e-05	0.0012	2.631e-05	2.375e-05	0.0006	0.0004	2.987e-05	0	0	5.038e-05	3.745e-05	0.0012	2.698e-05	6.623e-05	4.637e-05	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	.	.	2.407e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0002	.	.	.	0.084	0.41239	T	0.999	0.77913	D	0.975	0.73362	D	0.000442	0.44317	D	0.101629	0.998002	0.44406	D	1.1	0.28011	L	-1.16	0.78082	T	-1.38	0.34198	N	0.539	0.56662	-0.0666	0.80853	T	0.439	0.77790	T	10	0.46834433	0.59709	T	0.042221	0.60351	D	0.318	0.64008	.	.	0.79645409113	0.79455	0.1509289265068259	0.15014	.	.	0.362705469131	0.19780	T	0.240228	0.60851	T	-0.105833	0.35457	T	-0.164097	0.57981	T	0.188368099905203	0.19748	T	0.816718	0.47282	T	0.24602081	0.47566	0.13037638	0.31329	0.24602081	0.47566	0.13037638	0.31328	-6.727	0.52013	T	.	.	0.134	0.29032	B	.	.	4.912131	0.80831	27.4	0.99934256955428813	0.99535	0.93083	0.57284	D	AEFDGBHCI	0.562176	0.56987	D	0.516009571924244	0.68037	5.162226	0.569918862148652	0.72795	5.866232	0.999999999997189	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	4.537000	0.60354	5.989000	0.52298	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.805	0.78275	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2020.83	62	chr16	2767906	.	C	T	2020.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=440;ExcessHet=0;FS=3.286;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.19;SOR=0.788	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr16	2966796	2966796	G	A	splicing	KREMEN2	NM_024507:exon5:c.640+1G>A;NM_001253726:exon5:c.523+1G>A;NM_001253725:exon5:c.523+1G>A;NM_172229:exon5:c.640+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445963984	2.761e-06	2.748e-06	1.374e-06	4.161e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127134	0.67081	D	-0.0551568	0.66669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.868233	0.93883	33	0.98910529971911676	0.48363	0.87187	0.46651	D	AEFDBCI	.	.	.	0.970808478804533	0.94775	13.02903	0.778385864154196	0.88251	9.513424	0.999999998892591	0.74766	0.079558	0.02119	0	0.079893	0.02001	0	0.068936	0.01964	0	0.085113	0.02366	1	0.95871	0.64713	4.79	4.79	0.60909	7.350000	0.78633	8.402000	0.77108	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	15.390	0.74451	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	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	333.83	39	chr16	2966796	.	G	A	333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.724;DP=230;ExcessHet=0;FS=2.531;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-0.742;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1059	5	0	1	0
chr16	3067563	3067563	A	C	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A64C:p.I22L,IL32:NM_001308078:exon3:c.A202C:p.I68L,IL32:NM_001369587:exon3:c.A202C:p.I68L,IL32:NM_001369588:exon3:c.A202C:p.I68L,IL32:NM_001369593:exon3:c.A34C:p.I12L,IL32:NM_001369596:exon3:c.A64C:p.I22L,IL32:NM_001012632:exon4:c.A64C:p.I22L,IL32:NM_001012633:exon4:c.A64C:p.I22L,IL32:NM_001012718:exon4:c.A64C:p.I22L,IL32:NM_001369590:exon4:c.A64C:p.I22L,IL32:NM_001376923:exon4:c.A64C:p.I22L,IL32:NM_004221:exon4:c.A64C:p.I22L,IL32:NM_001012631:exon5:c.A64C:p.I22L,IL32:NM_001369589:exon5:c.A64C:p.I22L	.	423	1089	9	1	0	11	0.00502513	.	.	.	703636	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0067	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0094	0.0030659	474	154602	rs115923319	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.827e-05	2.519e-05	5.617e-05	0.0089	0.0002	0.0022	0.0074	0.0064	0.0064	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0024	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.265	0.19854	T	0.245	0.37310	T	0.001	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.53	0.70833	T	-1.13	0.30762	N	0.097	0.15469	-1.0899	0.05549	T	0.059	0.24539	T	9	0.004904866	0.00105	T	.	.	.	0.102	0.29158	0.222	0.14518	0.390531646278	0.38663	0.010596329033309461	0.01020	0.105508220992	0.11931	0.523488879204	0.42117	T	0.010799	0.17609	T	-0.502614	0.00553	T	-0.479152	0.24537	T	0.0043021059021059	0.00046	T	0.321768	0.07383	T	0.1319177	0.30733	0.053210147	0.08918	0.1319177	0.30733	0.053210147	0.08918	-2.472	0.06719	T	.	.	0.201	0.48551	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.463912	0.00317	0.005	0.63556436416830986	0.07255	0.00704	0.02988	N	AEFDBHCI	0.043939	0.07006	N	-2.13589654018943	0.00107	0.004562166	-2.22062230557729	0.00101	0.00441848	0.999999905074155	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.797000	0.00409	.	.	-4.398000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3531:0.1285:0.3057:0.2127	0.564	0.00639	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1915.06	40	chr16	3067563	.	A	C	1915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=291;ExcessHet=0.4139;FS=0.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.261;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,33:79:99:0|1:3067563_A_C:1243,0,1824:3067563	4	0	2	0
chr16	3067569	3067569	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A70G:p.R24G,IL32:NM_001308078:exon3:c.A208G:p.R70G,IL32:NM_001369587:exon3:c.A208G:p.R70G,IL32:NM_001369588:exon3:c.A208G:p.R70G,IL32:NM_001369593:exon3:c.A40G:p.R14G,IL32:NM_001369596:exon3:c.A70G:p.R24G,IL32:NM_001012632:exon4:c.A70G:p.R24G,IL32:NM_001012633:exon4:c.A70G:p.R24G,IL32:NM_001012718:exon4:c.A70G:p.R24G,IL32:NM_001369590:exon4:c.A70G:p.R24G,IL32:NM_001376923:exon4:c.A70G:p.R24G,IL32:NM_004221:exon4:c.A70G:p.R24G,IL32:NM_001012631:exon5:c.A70G:p.R24G,IL32:NM_001369589:exon5:c.A70G:p.R24G	.	425	1088	8	1	0	10	0.00457457	.	.	.	703637	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0064	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0092	0.0030401	470	154602	rs144473418	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.826e-05	2.519e-05	5.618e-05	0.0090	0.0002	0.0022	0.0072	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.156	0.91255	T	0.087	0.55341	T	0.183	0.32836	B	0.026	0.32387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-2.37	0.60827	N	0.194	0.22614	-1.0153	0.25240	T	0.077	0.30706	T	9	0.004132837	0.00081	T	.	.	.	0.119	0.33137	.	.	0.378847511475	0.37492	0.010607139295363157	0.01021	0.175847818237	0.19797	0.390299320221	0.23711	T	0.050373	0.33924	T	-0.376526	0.03276	T	-0.298034	0.44933	T	0.00376691452627779	0.00040	T	0.545245	0.18642	T	0.1457299	0.33392	0.11142638	0.26879	0.1457299	0.33392	0.11142638	0.26878	-3.203	0.20745	T	.	.	0.142	0.50343	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.276816	0.00458	0.010	0.72752288557336842	0.10083	0.00562	0.02559	N	AEFDBHCI	0.036607	0.04905	N	-1.53367403772781	0.01632	0.07137679	-1.65117491242315	0.01370	0.06187062	0.999995198190136	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-2.005000	0.01549	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4103:0.3972:0.1926:0.0	3.881	0.08582	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1850.06	40	chr16	3067569	.	A	G	1850.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.789;DP=283;ExcessHet=0.4139;FS=1.435;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.605;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,32:78:99:0|1:3067563_A_C:1204,0,1834:3067563	4	0	2	0
chr16	3067576	3067576	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A77G:p.Y26C,IL32:NM_001308078:exon3:c.A215G:p.Y72C,IL32:NM_001369587:exon3:c.A215G:p.Y72C,IL32:NM_001369588:exon3:c.A215G:p.Y72C,IL32:NM_001369593:exon3:c.A47G:p.Y16C,IL32:NM_001369596:exon3:c.A77G:p.Y26C,IL32:NM_001012632:exon4:c.A77G:p.Y26C,IL32:NM_001012633:exon4:c.A77G:p.Y26C,IL32:NM_001012718:exon4:c.A77G:p.Y26C,IL32:NM_001369590:exon4:c.A77G:p.Y26C,IL32:NM_001376923:exon4:c.A77G:p.Y26C,IL32:NM_004221:exon4:c.A77G:p.Y26C,IL32:NM_001012631:exon5:c.A77G:p.Y26C,IL32:NM_001369589:exon5:c.A77G:p.Y26C	.	424	1089	8	1	0	10	0.00457038	.	.	.	703638	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.189	.	0.0068	0.00778754	0.0034	0.0201	0.0022	0	0	0.0004	0.0011	0.0092	0.0030595	473	154602	rs147775375	0.0012	0.0012	0.0010	0.0013	0.0202	0.0011	0.0011	0.0189	0.0184	0.0202	0.0016	3.826e-05	2.519e-05	5.621e-05	0.0092	0.0002	0.0022	0.0071	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0070	0.088	0.54683	T	0.173	0.35710	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	2.08	0.15178	N	0.085	0.13769	-1.0612	0.11459	T	0.074	0.30023	T	9	0.004234284	0.00085	T	.	.	.	0.189	0.46613	.	.	0.386395597597	0.38251	0.007375380469582911	0.00703	0.134618601746	0.15165	0.446694374084	0.31493	T	0.001407	0.02473	T	-0.408003	0.02050	T	-0.343249	0.39976	T	0.00493061331323631	0.00053	T	0.478252	0.14398	T	0.086131394	0.20007	0.053205363	0.08918	0.086131394	0.20006	0.053205363	0.08918	-3.587	0.22617	T	.	.	0.047	0.05890	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.894114	0.00128	0.002	0.20446156828209749	0.00735	0.00131	0.00809	N	AEFDBHCI	0.038229	0.05380	N	-2.21145322574567	0.00072	0.003088292	-2.28019881074111	0.00074	0.003230598	0.999998170551876	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.380000	0.00545	.	.	-2.787000	0.00188	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1338:0.1319:0.3687:0.3656	1.730	0.02753	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1723.06	40	chr16	3067576	.	A	G	1723.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.578;DP=279;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.275;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,30:75:99:0|1:3067563_A_C:1119,0,1798:3067563	4	0	2	0
chr16	3068238	3068238	C	T	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon4:c.C173T:p.P58L,IL32:NM_001012634:exon5:c.C140T:p.P47L,IL32:NM_001012635:exon5:c.C140T:p.P47L,IL32:NM_001308078:exon5:c.C338T:p.P113L,IL32:NM_001369587:exon5:c.C338T:p.P113L,IL32:NM_001369588:exon5:c.C338T:p.P113L,IL32:NM_001369591:exon5:c.C140T:p.P47L,IL32:NM_001369592:exon5:c.C140T:p.P47L,IL32:NM_001369593:exon5:c.C170T:p.P57L,IL32:NM_001369595:exon5:c.C140T:p.P47L,IL32:NM_001369596:exon5:c.C200T:p.P67L,IL32:NM_001012632:exon6:c.C200T:p.P67L,IL32:NM_001012633:exon6:c.C200T:p.P67L,IL32:NM_001012718:exon6:c.C200T:p.P67L,IL32:NM_001376923:exon6:c.C200T:p.P67L,IL32:NM_004221:exon6:c.C200T:p.P67L,IL32:NM_001012631:exon7:c.C200T:p.P67L,IL32:NM_001369589:exon7:c.C200T:p.P67L	.	417	1081	24	0	0	24	0.010979	0.0002	0.042	.	703639	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0035	0.00299521	0.0060	0.0008	0.0120	0	0.0007	0.0073	0.0182	0.0051	0.0032341	500	154602	rs141583132	0.0036	0.0036	0.0036	0.0036	0.0118	0.0035	0.0035	0.0096	0.0088	0.0011	0.0030	0.0095	0	0.0013	0.0118	0.0037	0.0045	0.0033	0.0029	0.0029	0.0029	0.0029	0.0040	0.0027	0.0026	0.0036	0.0035	0.0012	0.0011	0.0031	0.0069	0	0.0012	0.0034	0.0040	0.0052	0.0037	0.007	0.63226	D	1.0	0.12246	T	0.002	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.75	0.73311	T	-3.69	0.84601	D	0.09	0.20262	-1.0508	0.14175	T	0.096	0.36159	T	9	0.0057647824	0.00137	T	.	.	.	0.089	0.25827	.	.	0.371157983038	0.36729	0.00396477721922768	0.00371	0.110558448003	0.12480	0.552215576172	0.46171	T	0.04808	0.33969	T	-0.45423	0.01066	T	-0.424293	0.30584	T	0.0166208605860135	0.00422	T	0.642236	0.25428	T	0.03586808	0.04304	0.062980935	0.12406	0.03586808	0.04303	0.062980935	0.12406	-4.723	0.39456	T	.	.	0.194	0.56231	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.570557	0.01654	0.116	0.36303562391683897	0.02328	0.00216	0.01224	N	AEFBI	0.041015	0.06178	N	-1.77802557302646	0.00601	0.025904	-1.86218700591529	0.00580	0.02575188	0.999983698407311	0.51787	0.706548	0.73137	0	0.581341	0.33841	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	1.9	-3.8	0.04025	-2.506000	0.01038	.	.	-2.318000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.3022:0.0:0.5119	3.824	0.08362	748	0.52143	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009202	0.005495	0.008152	0.011765	0.000000	0.000000	0.015528	0.003846	0.08333	726.83	35	chr16	3068238	.	C	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.76;DP=262;ExcessHet=0;FS=0.975;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.34;SOR=0.518	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	5	0	1	0
chr16	3138428	3138428	C	T	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon3:c.C410T:p.S137L,ZNF213:NM_004220:exon3:c.C410T:p.S137L	.	414	1104	4	0	0	4	0.00180832	.	.	.	3350160	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0137351387812	0.0002	.	3.361e-05	0.0002	8.655e-05	0	0	0	0	6.121e-05	3.88e-05	6	154602	rs369876326	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.238e-05	1.052e-05	4.366e-05	2.772e-05	2.989e-05	0.0001	0	0	0	0.0002	1.259e-05	4.971e-05	2.32e-05	7.883e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.496e-05	3.511e-05	4.737e-05	3.052e-05	0.0001	0	0.0001	0	0	0	0	7.351e-05	0	0	0.332	0.13045	T	0.646	0.30729	T	0.026	0.19406	B	0.005	0.11217	B	0.909730	0.08561	N	0.943428	0.979482	0.25178	N	0	0.06538	N	3.47	0.08721	T	-1.2	0.30555	N	0.296	0.33469	-0.8987	0.48125	T	0.009	0.03011	T	10	0.063832045	0.08374	T	0.013735	0.33353	T	0.035	0.08770	.	.	0.311691414656	0.30774	0.26786186484649577	0.26699	0.151551425514	0.17104	0.451345205307	0.32128	T	0.044855	0.26942	T	-0.482567	0.00715	T	-0.651515	0.08848	T	0.024008646607399	0.01147	T	0.214779	0.34027	T	0.053887814	0.10264	0.03413746	0.02429	0.053887814	0.10263	0.03413746	0.02428	-3.57	0.17424	T	.	.	0.155	0.34205	B	.;.;.;.;.;.	.;.;.;.;.;.	2.186009	0.27867	17.61	0.99078848100084993	0.51906	0.22669	0.21824	N	AEFDBI	0.347623	0.44203	N	-0.963936129759143	0.09383	0.4438104	-0.835856474178337	0.13628	0.7079948	0.023629292656724	0.13521	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	5.43	0.96	0.18753	0.012000	0.13184	.	.	-0.193000	0.09282	0.007000	0.17678	0.986000	0.30841	0.813000	0.38311	0.3266:0.4958:0.0:0.1776	3.992	0.09030	749	0.51929	SCAN domain;SCAN domain;SCAN domain;SCAN domain;SCAN 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	.	.	.	.	.	.	.	.	0.1667	1215.06	33	chr16	3138428	.	C	T	1215.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.102;DP=227;ExcessHet=0.4139;FS=4.032;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.3;SOR=1.035	GT:AD:DP:GQ:PL	0/1:13,18:31:99:463,0,318	4	0	2	0
chr16	3204556	3204556	G	A	exonic	OR1F1	.	nonsynonymous SNV	OR1F1:NM_012360:exon3:c.G310A:p.V104I,OR1F1:NM_001370639:exon4:c.G340A:p.V114I,OR1F1:NM_001370640:exon4:c.G340A:p.V114I,OR1F1:NM_001370641:exon5:c.G310A:p.V104I	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000786896368447	0.0002	0.000199681	0.0002	0	8.637e-05	0	0	0.0002	0.0077	0.0002	0.0001617	25	154602	rs141236935	0.0002	0.0002	0.0001	0.0002	0.0042	0.0002	0.0002	0.0029	0.0024	5.974e-05	0.0002	3.826e-05	5.038e-05	1.872e-05	0.0042	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	9.9e-05	4.813e-05	0	0.0003	0	0.0002	9.448e-05	0	0.0002	0.0005	0.0004	0.047	0.40319	D	0.053	0.47336	T	0.003	0.11197	B	0.005	0.11217	B	0.193960	0.03270	N	1.684360	1	0.08975	N	0.495	0.13372	N	8.11	0.00296	T	0.73	0.02068	N	0.113	0.10056	-0.9421	0.42282	T	0.000	0.00152	T	10	0.022133172	0.00545	T	7.87E-4	0.00608	T	0.041	0.10877	.	.	0.0482279557977	0.04254	0.03423888167301984	0.03371	0.00263157055894	0.00224	0.241656780243	0.02942	T	0.00275	0.02146	T	-0.603942	0.00138	T	-0.815154	0.01553	T	0.0405970346303164	0.03798	T	0.409559	0.10569	T	0.035788782	0.04279	0.05587842	0.09882	0.035788782	0.04279	0.05587842	0.09882	-3.645	0.18510	T	.	.	0.075	0.05535	B	.	.	-0.822227	0.01064	0.046	0.76801099286278407	0.11615	0.03937	0.09332	N	AEFDGBI	0.073310	0.14658	N	-1.71158535860498	0.00801	0.03463274	-1.83195090732317	0.00662	0.02945639	0.990967315396431	0.32327	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.27	-10.5	0.00234	-1.099000	0.03453	.	.	-2.819000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4636:0.1181:0.4183	13.353	0.60053	725	0.54935	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.012228	0.008772	0.000000	0.008621	0.003049	0.000000	0.08333	3119.83	33	chr16	3204556	.	G	A	3119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.23;DP=615;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.361;SOR=0.821	GT:AD:DP:GQ:PL	0/1:94,116:210:99:3130,0,2280	5	0	1	0
chr16	3299432	3299432	T	A	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.A1183T:p.I395L	.	450	1059	13	0	0	13	0.00610042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0104207077987	0.0018	0.000798722	0.0016	0.0003	0.0021	0	0.0005	0.0024	0.0023	0	0.0015265	236	154602	rs145207288	0.0022	0.0022	0.0023	0.0021	0.0027	0.0021	0.0021	0.0024	0.0024	0.0004	0.0027	0.0045	0	0.0008	0.0023	0.0025	0.0026	1.289e-05	0.0019	0.0019	0.0019	0.0020	0.0066	0.0018	0.0017	0.0056	0.0052	0.0005	0	0.0066	0.0035	0	0.0002	0	0.0023	0.0019	0	0.643	0.04957	T	0.666	0.06386	T	0.041	0.21357	B	0.039	0.23607	B	0.000502	0.43753	U	0.000000	0.997858	0.22475	N	1.075	0.27130	L	0.12	0.61089	T	-0.19	0.09965	N	0.513	0.54409	-0.9584	0.39479	T	0.140	0.45960	T	10	0.007702917	0.00175	T	0.010421	0.26937	T	0.200	0.48430	0.735	0.86806	0.225215365344	0.22153	0.1286139566735163	0.12786	0.0778134673263	0.08756	0.406332075596	0.25949	T	0.031625	0.22125	T	-0.399097	0.02347	T	-0.350042	0.39201	T	0.0025765530234841	0.00027	T	0.49745	0.15470	T	0.049223363	0.08706	0.05352751	0.09033	0.049223363	0.08706	0.05352751	0.09032	-2.897	0.09113	T	.	.	0.152	0.33687	B	.	.	1.134757	0.15214	11.68	0.94012293775051725	0.24115	0.55782	0.29951	D	AEFBI	0.101663	0.20412	N	-0.255372111207272	0.30889	1.726689	-0.116239487075662	0.34734	2.001413	0.810814620834034	0.24351	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.32	4.23	0.49319	0.071000	0.14461	.	.	0.665000	0.62972	0.152000	0.23684	0.890000	0.27818	1.000000	0.97212	0.0:0.1037:0.0:0.8963	7.174	0.24909	707	0.57054	DDE superfamily endonuclease 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	0.005035	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	2071.83	147	chr16	3299432	.	T	A	2071.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=331;ExcessHet=0;FS=2.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.157;SOR=0.516	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1349	5	0	1	0
chr16	3356185	3356185	T	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.T245C:p.L82P	.	425	1079	17	1	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.00996368830233	0.0003	0.000998403	0.0008	0	8.637e-05	0	0.0002	0.0004	0.0022	0.0039	0.0006404	99	154602	rs149625259	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0044	0.0042	5.974e-05	0.0002	0.0005	0	1.872e-05	0.0055	0.0001	0.0007	0.0047	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.216e-05	0	0.0003	0.0003	0	0	0.0034	0.0002	0.0005	0.0058	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.006932	0.31707	N	0.000000	0.999996	0.58761	D	3.935	0.96350	H	7.45	0.00391	T	-6.72	0.92561	D	0.918	0.92084	-1.1106	0.03019	T	0.007	0.02244	T	10	0.05266249	0.05334	T	0.009964	0.25923	T	0.362	0.68230	.	.	0.744465519958	0.74216	0.6316848835877995	0.63102	0.47767146227	0.46874	0.658551573753	0.61202	T	0.014473	0.12316	T	-0.224347	0.17404	T	-0.0946311	0.63810	T	0.230201423168182	0.21961	T	0.775622	0.40735	T	0.9833335	0.99353	0.95905834	0.98921	0.9833335	0.99353	0.95905834	0.98921	-11.41	0.81858	D	.	.	0.531	0.65959	A	.	.	4.165723	0.62598	24.5	0.99802440215782584	0.88728	0.92773	0.56510	D	AEFDBHCI	0.820796	0.74150	D	0.724313960735914	0.81226	7.472882	0.562388526199704	0.72263	5.782371	0.0830305240005124	0.15916	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	4.5	0.54382	5.995000	0.70302	.	.	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	11.802	0.51403	659	0.61982	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	2421.83	115	chr16	3356185	.	T	C	2421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.9;DP=616;ExcessHet=0;FS=1.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.284;SOR=0.616	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	5	0	1	0
chr16	3397449	3397449	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284527:exon2:c.C109T:p.R37C,ZSCAN32:NM_001324346:exon2:c.C109T:p.R37C	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00098910990251	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1041377937	2.431e-05	2.531e-05	1.834e-05	3.044e-05	0.0004	1.75e-05	1.544e-05	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	2.595e-05	5.17e-05	1.262e-05	7.883e-05	7.879e-05	6.423e-05	9.412e-05	0.0002	4.496e-05	3.512e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.107	0.92824	T	.	.	.	.	.	.	0.422356	0.12854	N	0.563913	1	0.19072	N	1.6	0.40776	L	3.11	0.08194	T	-3.99	0.73893	D	0.336	0.44090	-1.0670	0.10085	T	0.049	0.20908	T	9	0.52149886	0.62668	D	9.89E-4	0.01050	T	0.112	0.31546	0.781	0.90541	0.191931220699	0.18833	0.3669031860197119	0.36604	.	.	0.301833987236	0.10674	T	0.089042	0.39316	T	-0.356084	0.04357	T	-0.431193	0.29800	T	0.49236536026001	0.32350	T	0.935006	0.75644	D	0.39525682	0.60403	0.21650878	0.46281	0.39525682	0.60403	0.21650878	0.46280	-5.225	0.39195	T	.	.	0.443	0.61877	A	.;.;.;.;.;.	.;.;.;.;.;.	2.070923	0.26338	17.08	0.99780456053448641	0.86693	0.05911	0.11863	N	AEFDBI	0.072648	0.14505	N	-0.421950152465097	0.24702	1.335637	-0.572188987507591	0.20219	1.088362	0.997856691191687	0.36112	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.44	0.068	0.13679	0.475000	0.21874	.	.	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.198000	0.21837	0.303:0.1718:0.5252:0.0	4.155	0.09722	735	0.53711	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN 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	.	.	.	.	.	.	.	.	0.08333	2263.83	138	chr16	3397449	.	G	A	2263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=345;ExcessHet=0;FS=10.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.035;SOR=0.314	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr16	3583210	3583210	C	A	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040T:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	985339	Fanconi_anemia_complementation_group_P|Fanconi_anemia	MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.076486118063	.	.	0.0001	0	0	0	0	4.495e-05	0	0.0008	0.00011	17	154602	rs199592185	6.977e-05	6.977e-05	3.267e-05	0.0001	0.0017	5.846e-05	5.457e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.888e-05	0.0001	0.0007	8.537e-05	8.53e-05	6.425e-05	0.0001	0.0012	4.954e-05	3.961e-05	0.0005	0.0004	4.81e-05	0	6.54e-05	0	0	0	0	4.411e-05	0.0005	0.0012	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.017328382	0.00369	T	0.076486	0.72544	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921265212138792	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.531422	0.00377	T	-0.636965	0.09891	T	0.0362832247252377	0.03030	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.084879	0.04899	1.482	0.91676041476106818	0.20967	0.21132	0.21293	N	AEFDBI	0.094389	0.19085	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1525.09	90	chr16	3583210	.	C	A	1525.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=282;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.61;SOR=0.645	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1257	5	0	1	0
chr16	3583210	3583210	C	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon14:c.G5040C:p.R1680S	Fanconi anemia, complementation group P, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	529942	Fanconi_anemia|Fanconi_anemia_complementation_group_P|SLX4-related_disorder|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0769940055134	7.7e-05	.	4.118e-05	9.61e-05	0.0003	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs199592185	3.147e-05	3.147e-05	3.675e-05	2.613e-05	0.0003	2.412e-05	2.157e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0003	3.058e-05	3.311e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.564	0.06302	T	0.752	0.04772	T	0.223	0.30377	B	0.024	0.20255	B	0.002156	0.00863	N	3.240280	1	0.08975	N	0.895	0.22405	L	5.3	0.01093	T	-0.28	0.11547	N	0.124	0.11626	-0.9317	0.43889	T	0.003	0.00800	T	10	0.038288355	0.02237	T	0.076994	0.72664	D	0.072	0.21020	0.23	0.15705	0.0611884634855	0.05136	0.19921263835035347	0.19838	0.061787928436	0.06879	0.185387313366	0.00154	T	0.025436	0.19020	T	-0.47611	0.00780	T	-0.636962	0.09893	T	0.0445509873201514	0.04520	T	0.40306	0.10319	T	0.101433314	0.23959	0.039252494	0.03975	0.101433314	0.23959	0.039252494	0.03975	-1.767	0.02412	T	.	.	0.175	0.38281	B	.	.	0.085524	0.04903	1.485	0.91382111739403926	0.20648	0.25181	0.22621	N	AEFDBI	0.103731	0.20775	N	-1.1310822583477	0.06097	0.2797519	-1.14170732500381	0.06918	0.3346367	0.253219302216024	0.18702	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.98	-0.564	0.11185	-0.372000	0.07559	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.5944:0.1232:0.2823	6.533	0.21537	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1525.09	90	chr16	3583210	.	C	G	1525.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=282;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.61;SOR=0.645	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1257	5	0	1	0
chr16	3589229	3589229	G	-	exonic	SLX4	.	frameshift deletion	SLX4:NM_032444:exon12:c.4409delC:p.P1470Rfs*37	Fanconi anemia, complementation group P, Autosomal recessive	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.395e-06	0	0	0	0	0	0	6.458e-05	6.5e-06	1	154602	rs758584521	2.058e-06	2.052e-06	1.363e-06	2.761e-06	0.0003	5.5e-07	1.5e-07	6.115e-05	2.53e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	1.314e-05	1.312e-05	2.571e-05	0	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	838.79	71	chr16	3589228	.	CG	C	838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=297;ExcessHet=0;FS=2.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.79;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	5	0	1	0
chr16	3589234	3589244	GCGACAGTCAC	-	exonic	SLX4	.	frameshift deletion	SLX4:NM_032444:exon12:c.4394_4404del:p.R1465Lfs*33	Fanconi anemia, complementation group P, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-06	0	0	0	0	0	0	6.573e-05	3.84e-05	1	26028	rs766416146	2.059e-06	2.052e-06	1.364e-06	2.762e-06	0.0003	5.5e-07	1.5e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	0	0	1.161e-05	1.315e-05	1.313e-05	2.572e-05	0	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	825.79	71	chr16	3589233	.	AGCGACAGTCAC	A	825.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=295;ExcessHet=0;FS=2.137;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=2.22;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	5	0	1	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA,TRAP1:NM_016292:exon13:c.1432_1433insCCG:p.S477_G478insA	.	436	1057	29	0	0	29	0.0135324	.	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010101	0.000000	0.005450	0.017544	0.000000	0.000000	0.009317	0.026515	0.08333	906.79	33	chr16	3664410	.	C	CCGG	906.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.466;DP=205;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.25;ReadPosRankSum=-0.286;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1044	5	0	1	0
chr16	3727885	3727885	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G7048A:p.A2350T,CREBBP:NM_004380:exon31:c.G7162A:p.A2388T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	578530	Inborn_genetic_diseases|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.374	0.0109225825308	.	.	1.656e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs756011865	1.985e-05	2.121e-05	2.043e-05	1.926e-05	0.0005	1.393e-05	1.204e-05	0.0001	7.544e-05	0	0	0	2.52e-05	0	0.0005	8.097e-06	0.0001	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.511	0.10930	T	0.702	0.41889	P	0.067	0.27542	B	0.000001	0.84330	D	0.000000	0.999342	0.46733	D	0.805	0.20218	L	-1.73	0.83327	D	-1.07	0.28497	N	0.28	0.51226	-0.5584	0.66465	T	0.280	0.65199	T	10	0.24583763	0.41838	T	0.010923	0.28000	T	0.374	0.69273	0.233	0.16155	0.827118703706	0.82548	0.18796383770417247	0.18714	0.368016935598	0.38361	0.73094445467	0.71644	T	0.394697	0.75377	T	-0.0366975	0.46437	T	-0.108962	0.62694	T	0.295550346374512	0.24820	T	0.744226	0.36463	T	0.11158837	0.26369	0.13188466	0.31660	0.11158837	0.26369	0.13188466	0.31660	-3.989	0.23639	T	.	.	0.178	0.38853	B	.;.	.;.	4.033945	0.59668	24.1	0.94209520530980817	0.24450	0.95566	0.65232	D	AEFDGBCI	0.641922	0.61908	D	0.0401985156919138	0.43693	2.657251	0.166385397579493	0.48016	3.023437	0.998722609921002	0.37539	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.35	4.38	0.52019	6.054000	0.70719	.	.	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.977000	0.56843	0.1466:0.8534:0.0:0.0	14.639	0.68310	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	2104.83	37	chr16	3727885	.	C	T	2104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.432;DP=464;ExcessHet=0;FS=0.566;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.199;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	5	0	1	0
chr16	3983244	3983244	G	A	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon7:c.C2507T:p.A836V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0486917800279	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1417470406	2.503e-05	2.394e-05	1.976e-05	3.045e-05	5.602e-05	1.817e-05	1.608e-05	1.799e-05	1.549e-05	0	5.602e-05	0	0	0	0	2.595e-05	3.449e-05	3.787e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.540843	0.11538	N	0.798338	1	0.08975	N	-1.555	0.00461	N	-1.6	0.82165	D	0.95	0.01509	N	0.056	0.02759	-0.9506	0.40868	T	0.172	0.51405	T	10	0.0685972	0.09724	T	0.048692	0.63487	D	0.223	0.52023	0.389	0.41115	0.580280631899	0.57699	0.34825334946674286	0.34739	0.415503631087	0.42205	0.278230965137	0.07248	T	0.202342	0.56049	T	-0.151491	0.28077	T	-0.261734	0.48651	T	0.0312527305302705	0.02186	T	0.782022	0.41734	T	0.0347112	0.03949	0.032299828	0.01945	0.0347112	0.03949	0.032299828	0.01945	-2.507	0.05829	T	.	.	0.057	0.00543	B	.	.	0.742262	0.11117	7.762	0.80603630230699552	0.13281	0.00580	0.02616	N	ALL	0.044859	0.07270	N	-1.1415795288929	0.05919	0.2711575	-0.957174047753913	0.10757	0.5438303	0.999999999999435	0.74766	0.839682	0.99964	0	0.68496	0.65989	0	0.736553	0.94036	0	0.572988	0.34948	1	.	.	5.94	3.74	0.42108	4.999000	0.63678	.	.	-0.132000	0.13132	0.650000	0.28172	0.563000	0.25531	0.116000	0.19000	0.8656:0.0:0.1344:0.0	9.798	0.39912	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1990.83	74	chr16	3983244	.	G	A	1990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=459;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.718;SOR=0.579	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1254	5	0	1	0
chr16	4677555	4677555	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon11:c.G1048C:p.E350Q,MGRN1:NM_001142290:exon11:c.G1048C:p.E350Q,MGRN1:NM_001142291:exon11:c.G1048C:p.E350Q,MGRN1:NM_015246:exon11:c.G1048C:p.E350Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0115031022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.49613	D	0.068	0.44106	T	0.127	0.30086	B	0.322	0.41795	B	0.000000	0.84330	D	0.044369	0.985855	0.40344	D	0	0.06538	N	1.48	0.32482	T	-1.04	0.27259	N	0.393	0.44187	-1.0014	0.29516	T	0.065	0.26737	T	10	0.2730443	0.44851	T	0.011503	0.29187	T	0.282	0.59981	0.158	0.06178	0.276065633971	0.27208	0.5331555419338603	0.53240	0.0594457063886	0.06608	0.553624153137	0.46368	T	0.134784	0.46623	T	-0.237569	0.15660	T	-0.579028	0.14632	T	0.768218457698822	0.44332	D	0.962554	0.86020	D	0.18580608	0.39961	0.13805577	0.32981	0.18580608	0.39960	0.13805577	0.32980	-6.941	0.54471	T	.	.	0.133	0.48736	B	.;.;.;.;.;.	.;.;.;.;.;.	4.520609	0.70871	25.6	0.99129935336601926	0.53222	0.97674	0.76325	D	AEFDBCIJ	0.937145	0.93449	D	0.0285498019715362	0.43156	2.614161	0.186652180136518	0.49116	3.118659	0.999999999999616	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.953000	0.98977	11.774000	0.95935	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.469000	0.28319	0.0:0.0:1.0:0.0	17.736	0.88299	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	33	chr16	4677555	.	G	C	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.329;DP=226;ExcessHet=0;FS=5.785;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.877;SOR=0.517	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	1	0
chr16	4740572	4740572	G	T	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon4:c.G696T:p.E232D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00080407678847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.411	0.14500	T	0.001	0.07471	B	0.001	0.04355	B	0.612237	0.05707	N	1.259300	1	0.08975	N	1.845	0.48678	L	3.2	0.07236	T	-1.28	0.32185	N	0.1	0.11626	-0.9269	0.44588	T	0.020	0.08500	T	10	0.048994213	0.04427	T	8.04E-4	0.00629	T	0.027	0.05988	0.088	0.00943	0.0138822411134	0.00435	0.01538435246378817	0.01494	0.0201121265363	0.01973	.	.	.	0.002884	0.22183	T	-0.359323	0.04168	T	-0.753919	0.03336	T	0.0904090404510498	0.11267	T	0.370463	0.08742	T	0.052774627	0.09890	0.049722698	0.07656	0.052774627	0.09890	0.049722698	0.07656	-4.335	0.28664	T	.	.	0.106	0.19518	B	.;.;.	.;.;.	-0.075317	0.03791	0.799	0.98627569449332531	0.43866	0.03371	0.08468	N	AEFDBI	0.039727	0.05810	N	-1.18458524323169	0.05233	0.2380661	-1.27186139532909	0.04815	0.2280311	0.963248635454122	0.28678	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.586402	0.36253	0	.	.	2.62	0.61	0.16757	-0.248000	0.08872	0.292000	0.16883	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1389:0.0:0.6176:0.2435	3.534	0.07345	637	0.64373	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	130.83	39	chr16	4740572	.	G	T	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.589;DP=280;ExcessHet=0;FS=39.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=-0.03;SOR=5.549	GT:AD:DP:GQ:PL	0/1:66,15:81:99:141,0,1714	5	0	1	0
chr16	4740637	4740637	G	C	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon4:c.G761C:p.G254A	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00662175740691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	6.84e-07	1.369e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.399	0.92824	T	0.997	0.70673	D	0.906	0.64351	P	0.082431	0.20809	N	0.347901	1	0.08975	N	2.08	0.57402	M	2.16	0.19166	T	-3.91	0.73042	D	0.217	0.29429	-1.1009	0.03984	T	0.094	0.35604	T	10	0.15280077	0.28854	T	0.006622	0.17472	T	0.084	0.24469	0.174	0.08014	0.130388298395	0.12655	0.02128930318648242	0.02081	0.174296149125	0.19625	.	.	.	0.028454	0.51357	T	-0.20828	0.19622	T	-0.536956	0.18596	T	0.711056113243103	0.41252	D	0.720328	0.33319	T	0.16180047	0.36213	0.1988006	0.43731	0.16180047	0.36213	0.1988006	0.43730	-2.669	0.07046	T	.	.	0.191	0.44540	B	.;.;.	.;.;.	2.110251	0.26858	17.26	0.98526071725321107	0.42533	0.08442	0.14370	N	AEFDBI	0.049486	0.08555	N	-0.049162143785277	0.39639	2.340895	-0.257796811205905	0.29503	1.653466	0.99999045578469	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.586402	0.36253	0	.	.	3.63	3.63	0.40741	0.939000	0.28576	2.450000	0.32809	0.675000	0.71128	0.007000	0.17678	0.999000	0.35428	0.006000	0.07323	0.0:0.0:1.0:0.0	11.173	0.47808	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	463.83	39	chr16	4740637	.	G	C	463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=231;ExcessHet=0;FS=3.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.63;SOR=0.278	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	5	0	1	0
chr16	4861085	4861085	G	C	exonic	UBN1	.	nonsynonymous SNV	UBN1:NM_001079514:exon7:c.G1093C:p.V365L,UBN1:NM_001288656:exon7:c.G1093C:p.V365L	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0240231254245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755558783	6.846e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.012	0.63918	D	0.088	0.25022	B	0.091	0.29943	B	0.001244	0.39669	N	0.243760	0.979028	0.39520	D	0.69	0.16971	N	0.65	0.52642	T	-1.35	0.33598	N	0.489	0.53006	-1.0912	0.05335	T	0.064	0.26456	T	10	0.18519944	0.33930	T	0.024023	0.47001	T	0.085	0.24743	0.459	0.52590	0.292174397486	0.28832	0.26192828414315233	0.26105	0.105014416328	0.11870	0.488665491343	0.37253	T	0.20255	0.56075	T	-0.0658748	0.41983	T	-0.332401	0.41200	T	0.447916622741613	0.30721	T	0.845915	0.52533	T	0.077246025	0.17521	0.10350608	0.24836	0.077246025	0.17521	0.10350608	0.24836	-6.88	0.54121	T	0.2812359878745733	0.37658	0.359	0.57211	A	.;.;.	.;.;.	2.576417	0.33399	19.33	0.9886225591437916	0.47493	0.97484	0.75047	D	AEFBI	0.655030	0.62751	D	-0.253798727188051	0.30952	1.730808	-0.0714965006955997	0.36575	2.130201	0.999634998000631	0.41205	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.87	2.7	0.31007	4.828000	0.62420	0.664000	0.20530	0.672000	0.70159	1.000000	0.71638	0.040000	0.21562	0.995000	0.73285	0.54:0.0:0.46:0.0	6.190	0.19732	496	0.76301	Ubinuclein middle domain;.;Ubinuclein middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	723.83	47	chr16	4861085	.	G	C	723.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.45;DP=225;ExcessHet=0;FS=8.409;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.96;SOR=2.271	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr16	4893233	4893233	C	T	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon14:c.G1630A:p.E544K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0571487068551	0.0005	0.000399361	0.0022	0.0004	0.0016	0	0.0063	0.0042	0	0	0.000705	109	154602	rs139608681	0.0008	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	6.064e-05	0.0004	0.0009	2.596e-05	0.0013	0	0.0009	0.0011	1.202e-05	0.0007	0.0007	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0012	0	0.0007	0	0.0012	0	0	0.301	0.14449	T	0.106	0.37872	T	0.858	0.47274	P	0.137	0.33328	B	0.000046	0.53742	D	0.122950	0.992066	0.41545	D	2.24	0.63355	M	-0.39	0.69158	T	-0.59	0.17624	N	0.559	0.61341	-0.7734	0.56670	T	0.199	0.55428	T	10	0.015195042	0.00319	T	0.057149	0.66863	D	0.314	0.63588	.	.	0.81560881684	0.81387	0.2695075998621024	0.26863	0.0397582316544	0.04249	0.534148514271	0.43619	T	0.168022	0.51487	T	-0.273828	0.11334	T	-0.185126	0.56046	T	0.0467045642435551	0.04911	T	0.942106	0.78341	D	0.15465438	0.34994	0.14155057	0.33705	0.15465438	0.34993	0.14155057	0.33704	-5.087	0.37769	T	.	.	0.114	0.24566	B	.;.	.;.	2.778702	0.36494	20.3	0.99448781842989287	0.65172	0.97879	0.77817	D	AEFDBI	0.817622	0.73907	D	-0.009782270191304	0.41411	2.476524	-0.0113628122296573	0.39201	2.320701	0.999695830116385	0.41870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.07	4.1	0.47196	5.830000	0.69016	2.819000	0.34952	0.597000	0.34315	1.000000	0.71638	0.995000	0.32472	0.003000	0.05239	0.0:0.8606:0.1394:0.0	15.457	0.75050	470	0.78111	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1088.06	26	chr16	4893233	.	C	T	1088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=204;ExcessHet=0.4139;FS=4.256;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.095;SOR=1.19	GT:AD:DP:GQ:PL	0/1:20,25:45:99:624,0,473	4	0	2	0
chr16	5028114	5028114	G	A	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon6:c.C992T:p.P331L	.	426	1093	3	0	0	3	0.00137049	.	.	.	2283765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.0755380049466	.	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001358	21	154602	rs757866039	6.386e-05	6.498e-05	5.873e-05	6.905e-05	0.0005	5.315e-05	4.93e-05	0.0002	0.0001	0	0	0	0	5.688e-05	0.0005	5.858e-05	0	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	2.93	0.09822	T	-7.6	0.95336	D	0.549	0.57518	-1.0424	0.16592	T	0.086	0.33382	T	10	0.6087973	0.67326	D	0.075538	0.72313	D	0.465	0.76089	0.561	0.68093	0.654857447642	0.65197	0.7144575315481317	0.71388	0.133370945786	0.15016	0.534954965115	0.43733	T	0.790135	0.94539	D	-0.210332	0.19332	T	-0.232487	0.51531	T	0.41960705000205	0.29676	T	0.822018	0.51465	T	0.53463805	0.69094	0.49103072	0.70556	0.53463805	0.69095	0.49103072	0.70556	-7.474	0.57427	T	.	.	0.127	0.27069	B	.;.	.;.	4.824783	0.78622	26.9	0.99895326338464108	0.96819	0.96562	0.69761	D	AEFDBCI	0.935273	0.92990	D	0.710283183995968	0.80308	7.265361	0.635307216562467	0.77523	6.695387	0.999999999999886	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.36	4.36	0.51643	8.002000	0.88029	8.540000	0.77489	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.201000	0.21925	0.0:0.0:1.0:0.0	16.908	0.86002	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1772.83	39	chr16	5028114	.	G	A	1772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-3.443;SOR=0.724	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr16	8813053	8813053	G	A	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon7:c.G586A:p.V196M	Congenital disorder of glycosylation, type Ia, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	1410379	PMM2-congenital_disorder_of_glycosylation|Inborn_genetic_diseases	MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.705	0.347927902809	.	0.000199681	6.589e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs547216044	2.942e-05	2.941e-05	1.362e-05	4.539e-05	0.0004	2.217e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.699e-06	6.624e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.013	0.54683	D	0.006	0.70582	D	0.808	0.45299	P	0.608	0.51027	P	0.003248	0.35212	N	0.271313	0.938321	0.29986	N	3.04	0.86592	M	-5.05	0.98611	D	-1.11	0.39887	N	0.487	0.54147	1.034	0.97795	D	0.943	0.98136	D	10	0.42684644	0.57231	T	0.347928	0.92191	D	0.705	0.89422	0.727	0.86111	0.960751734495	0.96032	0.8116833759349465	0.81124	0.025904314707	0.02646	0.475555121899	0.35445	T	0.74684	0.96791	D	0.0199997	0.54382	T	0.112918	0.77767	D	0.435843285512629	0.30276	T	0.989814	0.96735	D	0.34722516	0.56851	0.35192344	0.60778	0.34722516	0.56851	0.35192344	0.60778	-10.386	0.76189	D	0.4208363599831601	0.50965	0.335	0.61546	B	.;.;.	.;.;.	3.317442	0.45614	22.2	0.99845323613098802	0.92489	0.45083	0.27460	N	AEFBCI	0.110565	0.21921	N	0.0924969324547519	0.46114	2.856802	-0.014434098152764	0.39061	2.310481	0.943236637733535	0.27559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	3.91	0.44383	0.818000	0.26952	6.208000	0.54977	0.676000	0.76740	0.390000	0.26087	1.000000	0.68203	0.319000	0.24947	0.0913:0.3486:0.5601:0.0	7.233	0.25228	970	0.06235	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1375.83	34	chr16	8813053	.	G	A	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.49;DP=285;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.063;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1154	5	0	1	0
chr16	8936595	8936595	G	A	exonic	USP7	.	nonsynonymous SNV	USP7:NM_001286457:exon1:c.C19T:p.L7F	.	429	1086	6	1	0	8	0.00366972	.	.	.	1693672	not_provided|USP7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.123852680253	.	0.000199681	0.0011	0	0	0	0.0024	0.0017	0.0031	0.0001	0.0006856	106	154602	rs113545079	0.0010	0.0010	0.0009	0.0010	0.0021	0.0009	0.0009	0.0012	0.0010	9.319e-05	0.0001	0	0	0.0024	0.0021	0.0011	0.0008	0.0002	0.0009	0.0009	0.0009	0.0009	0.0013	0.0008	0.0008	0.0011	0.0010	0.0001	0	0.0003	0	0	0.0035	0	0.0013	0.0009	0.0004	0.081	0.33418	T	0.144	0.33109	T	.	.	.	.	.	.	0.001397	0.39175	N	0.242133	1	0.81001	D	.	.	.	3.15	0.07820	T	-0.56	0.17003	N	0.253	0.28616	-0.9606	0.39068	T	0.090	0.34573	T	8	0.013087332	0.00279	T	0.123853	0.80510	D	0.089	0.25827	.	.	0.209943299407	0.20609	.	.	.	.	.	.	.	.	.	.	-0.492927	0.00627	T	-0.50546	0.21783	T	0.0148374833379074	0.00313	T	0.512349	0.16405	T	.	.	.	.	.	.	.	.	-5.226	0.39205	T	.	.	0.083	0.09433	B	.	.	2.211106	0.28211	17.72	0.99674770848886496	0.78846	0.62790	0.31889	D	ALL	0.295405	0.40553	N	0.202237863777064	0.51309	3.31304	0.251641472669942	0.52742	3.447101	0.999999999993702	0.74766	0.693307	0.56506	0	0.020172	0.00044	3	0.658952	0.52864	0	0.636	0.56748	0	.	.	4.24	4.24	0.49486	2.313000	0.43395	7.466000	0.59102	0.672000	0.70159	1.000000	0.71638	0.999000	0.35428	0.825000	0.38878	0.0:0.0:1.0:0.0	12.448	0.54997	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	703.83	44	chr16	8936595	.	G	A	703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.425;DP=307;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.234;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,99,1485:.	5	0	1	0
chr16	11166443	11166443	G	C	exonic	CLEC16A	.	nonsynonymous SNV	CLEC16A:NM_015226:exon22:c.G2697C:p.Q899H	.	425	1088	7	2	0	11	0.00502972	.	.	.	3944574	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.013814453961	.	.	0.0001	0	0	0	0	1.513e-05	0	0.0010	0.00011	17	154602	rs201236598	0.0001	0.0001	7.115e-05	0.0001	0.0011	8.956e-05	8.438e-05	0.0009	0.0008	0	0	0.0002	2.52e-05	0	0.0007	3.148e-05	0.0002	0.0011	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0006	2.107e-05	1.526e-05	0.0002	8.985e-05	0	0	6.533e-05	0.0003	0	0	0.0034	1.47e-05	0	0.0006	0.19	0.21144	T	0.128	0.34959	T	0.118	0.26577	B	0.054	0.25828	B	0.000110	0.50451	D	0.177321	1	0.26763	N	0	0.06538	N	0.93	0.44065	T	-0.43	0.14390	N	0.246	0.27792	-1.0559	0.12803	T	0.028	0.12190	T	10	0.014883846	0.00313	T	0.013814	0.33491	T	0.151	0.39764	0.161	0.06507	0.0482279557977	0.04254	0.32557027988222903	0.32470	0.190173576988	0.21337	0.411003142595	0.26595	T	0.056295	0.30247	T	-0.46678	0.00891	T	-0.488826	0.23515	T	0.0149342223437648	0.00318	T	0.813419	0.46649	T	0.07920763	0.18082	0.049899105	0.07721	0.07920763	0.18081	0.049899105	0.07720	-3.967	0.23308	T	.	.	0.081	0.08465	B	.	.	0.095292	0.04978	1.542	0.87206860694675259	0.17063	0.06885	0.12910	N	AEFBI	0.055793	0.10261	N	-1.10225195127983	0.06603	0.3044307	-1.28924246405771	0.04575	0.2161134	0.999997465288731	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.97	-9.94	0.00371	-0.753000	0.04897	-3.481000	0.02754	0.676000	0.76740	0.161000	0.23811	0.000000	0.08366	0.746000	0.35646	0.4849:0.3005:0.1148:0.0999	3.790	0.08235	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2591.06	36	chr16	11166443	.	G	C	2591.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.469;DP=377;ExcessHet=0.4139;FS=5.465;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.09;SOR=1.041	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1474,0,1335	4	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9020.01	118	chr16	11927475	.	G	*	9020.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.58;DP=719;ExcessHet=0.7136;FS=1.927;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.01;SOR=0.908	GT:AD:DP:GQ:PL	0/1:70,61:131:99:2207,0,2747	4	0	2	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	766.03	34	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	766.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=699;ExcessHet=0.4139;FS=13.299;MLEAC=2;MLEAF=0.167;MQ=53.8;MQRankSum=3.31;QD=1.99;ReadPosRankSum=3.99;SOR=1.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,21:184:99:0|1:11927631_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:449,0,6732:11927631	4	0	2	0
chr16	11927664	11927664	G	0	exonic	NPIPB2	.	.	.	.	429	931	151	0	11	162	0.0750124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.0	34	chr16	11927664	.	G	*	32.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.82;DP=572;ExcessHet=0.4139;FS=10.107;MLEAC=1;MLEAF=0.083;MQ=53.11;MQRankSum=-3.93;QD=0.09;ReadPosRankSum=-1.173;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:112,21:172:32:1|0:11927631_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:479,32,5330:11927631	5	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:102,57:192:99:180,0,1613	1	0	5	0
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T,NPIPA2:NM_001277324:exon8:c.T770C:p.I257T	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	80.98	19	chr16	14726010	.	T	C	80.98	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.224;DP=63;ExcessHet=0;FS=28.987;MLEAC=1;MLEAF=0.167;MQ=31.86;MQRankSum=3.22;QD=6.75;ReadPosRankSum=1.7;SOR=3.584	GT:AD:DP:GQ:PL	0/1:7,5:12:88:88,0,169	2	0	1	3
chr16	14951798	14951798	C	T	exonic	NPIPA1	.	nonsynonymous SNV	NPIPA1:NM_006985:exon8:c.C826T:p.P276S	.	433	1082	6	0	1	7	0.00276498	.	.	.	2370845	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.00766007956938	.	.	8.02e-05	0	0	0	0	0.0001	0.0013	0	3.84e-05	1	26028	rs771941642	0.0008	0.0015	0.0006	0.0010	0.0065	0.0008	0.0008	0.0061	0.0059	6.046e-05	0.0004	0.0001	2.649e-05	2.474e-05	0.0026	0.0005	0.0007	0.0065	0.0002	0.0004	0.0002	0.0003	0.0019	0.0001	0.0001	0.0009	0.0006	2.551e-05	0	0.0004	0	0	0	0	0.0002	0	0.0019	0.121	0.27783	T	0.004	0.74150	D	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.62	0.76659	M	-0.54	0.70950	T	-2.99	0.62151	D	0.11	0.09631	-0.6270	0.63698	T	0.423	0.76757	T	7	0.14154732	0.26894	T	0.00766	0.20325	T	0.190	0.46781	.	.	0.290222751274	0.28632	0.015466620623671974	0.01502	2.79814820781	0.98885	.	.	.	0.152639	0.49313	T	-0.298217	0.08828	T	-0.406465	0.32635	T	0.124515598823261	0.14865	T	0.924508	0.72366	D	0.07373122	0.16497	0.14904751	0.35208	0.07373122	0.16497	0.14904751	0.35207	-7.048	0.54383	T	.	.	0.125	0.26357	B	.	.	1.066016	0.14482	11.05	0.51449680870076853	0.04565	0.00205	0.01173	N	AEFI	0.067614	0.13300	N	-0.465009060874881	0.23233	1.246242	-0.810321450588437	0.14246	0.7433673	1.31958686603976E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.579976	0.35079	0	.	.	.	.	.	-1.896000	0.01696	-4.195000	0.02288	-1.772000	0.00663	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000612	0.000000	0.000000	0.000000	0.083333	0.000000	0.000000	0.000000	0.08333	36.83	36	chr16	14951798	.	C	T	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.383;DP=195;ExcessHet=0;FS=5.999;MLEAC=1;MLEAF=0.083;MQ=24.7;MQRankSum=0.54;QD=1.53;ReadPosRankSum=1.13;SOR=0.083	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1331	5	0	1	0
chr16	15076631	15076631	C	G	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon9:c.G695C:p.G232A,RRN3:NM_018427:exon10:c.G785C:p.G262A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.016992829088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.40319	T	0.059	0.46862	T	0.009	0.15093	B	0.03	0.21741	B	0.000135	0.49741	U	0.131649	1	0.81001	D	0.69	0.16971	N	1.24	0.40749	T	-0.34	0.13226	N	0.218	0.25377	-1.0297	0.20551	T	0.047	0.19998	T	10	0.12601775	0.23953	T	0.016993	0.38500	T	0.030	0.07022	0.419	0.46036	0.32580497728	0.32196	0.23575456028494804	0.23490	0.226659948742	0.25212	0.477560698986	0.35721	T	0.043892	0.26645	T	-0.212136	0.19080	T	-0.542495	0.18052	T	0.445906728506088	0.30646	T	0.818618	0.47570	T	0.045320805	0.07398	0.089902654	0.21051	0.045320805	0.07398	0.089902654	0.21050	-2.004	0.10786	T	.	.	0.075	0.09239	B	.;.;.;.;.	.;.;.;.;.	3.244254	0.44300	21.9	0.98010284227433275	0.37551	0.82228	0.41488	D	AEFBI	0.256398	0.37533	N	-0.615851649890615	0.18467	0.9590409	-0.402738729178658	0.24916	1.367185	0.00256297123607774	0.09535	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	3.77	0.42499	4.096000	0.57463	6.183000	0.54660	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0805:0.0:0.9195	10.165	0.42046	611	0.66908	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	413.83	32	chr16	15076631	.	C	G	413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.176;DP=216;ExcessHet=0;FS=7.079;MLEAC=1;MLEAF=0.083;MQ=59.41;MQRankSum=0.413;QD=12.93;ReadPosRankSum=0.038;SOR=2.303	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1253	5	0	1	0
chr16	15094161	15094161	C	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon1:c.G73A:p.G25S,RRN3:NM_018427:exon1:c.G73A:p.G25S	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0003	0.000998403	0.0037	0.0002	0.0007	0	0	0.0005	0.0058	0.0163	0.0014553	225	154602	rs141593500	0.0008	0.0008	0.0005	0.0011	0.0108	0.0008	0.0008	0.0102	0.0100	8.997e-05	0.0002	0.0011	0	0	0.0028	0.0002	0.0011	0.0108	0.0005	0.0005	0.0004	0.0007	0.0079	0.0004	0.0004	0.0059	0.0052	7.211e-05	0.0230	0.0001	0.0009	0.0002	0	0	0.0002	0.0014	0.0079	0.173	0.22573	T	0.328	0.24264	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.972784	0.25582	N	0.205	0.09354	N	1.0	0.44856	T	-0.46	0.16598	N	0.178	0.38950	-0.9982	0.30423	T	0.041	0.17785	T	9	0.0033971071	0.00059	T	.	.	.	0.009	0.00846	.	.	0.221019684889	0.21715	0.3631434870457118	0.36228	0.181092240378	0.20367	0.382041484118	0.22546	T	0.036204	0.24016	T	-0.61982	0.00110	T	-0.65371	0.08696	T	0.0177835936647646	0.00507	T	0.739426	0.35812	T	0.03547814	0.04184	0.08590566	0.19868	0.03547814	0.04184	0.08590566	0.19868	-2.377	0.04994	T	.	.	0.109	0.25232	B	.;.;.;.	.;.;.;.	0.696820	0.10657	7.354	0.96784411736367804	0.31087	0.06024	0.11991	N	AEFDBHCIJ	0.051167	0.09013	N	-1.2549101405905	0.04235	0.1907461	-1.25215394002783	0.05099	0.2421701	0.999999946258885	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.13	1.07	0.19399	-0.172000	0.09858	-0.314000	0.10017	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.0:0.6849:0.0:0.3151	4.848	0.12886	584	0.69381	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001761	0.000000	0.001370	0.004464	0.000000	0.000000	0.000000	0.004098	0.08333	381.83	40	chr16	15094161	.	C	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.962;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.731;SOR=0.562	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr16	15363771	15363771	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C941A:p.T314N	.	475	1024	12	0	11	23	0.00582524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.114018	0.0009	0.0011	0.0014	0	0.0012	0.0011	0	0.0003	0.0039391	609	154602	rs200515084	0.0020	0.0054	0.0018	0.0022	0.0072	0.0019	0.0019	0.0066	0.0063	0.0014	0.0052	0.0026	0.0050	0.0060	0.0033	0.0014	0.0026	0.0072	0.0008	0.0027	0.0010	0.0006	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0011	0.0006	0	0.0005	0	0.0008	0	0	0.285	0.15251	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.85	0.47130	T	-2.07	0.47344	N	0.108	0.09349	-1.0053	0.28368	T	0.093	0.35309	T	4	0.0035369694	0.00063	T	.	.	.	0.007	0.00512	.	.	0.110392049598	0.10638	0.007541486687279335	0.00720	1.79356630944	0.91544	.	.	.	0.013126	0.11410	T	-0.27517	0.11187	T	-0.633039	0.10185	T	0.00805360874408913	0.00095	T	0.210079	0.02530	T	0.12149424	0.28567	0.11801673	0.28489	0.12149424	0.28567	0.11801673	0.28489	-7.548	0.57947	D	.	.	0.159	0.35225	B	.	.	-0.040532	0.04009	0.916	0.70897096200238796	0.09447	0.00197	0.01136	N	AEFDI	0.038230	0.05380	N	-0.517686941128063	0.21508	1.141931	-0.658970331887041	0.17990	0.959092	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-4.566000	0.02092	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	606.9	196	chr16	15363771	.	G	T	606.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.06;DP=1076;ExcessHet=0;FS=24.786;MLEAC=1;MLEAF=0.167;MQ=56.44;MQRankSum=-9.834;QD=2.9;ReadPosRankSum=-5.555;SOR=2.744	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:225,0:225:0:.:.:0,0,3988:.	2	0	1	3
chr16	15363772	15363772	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A940T:p.T314S	.	474	1026	11	0	11	22	0.00533204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.114018	0.0010	0.0012	0.0015	0	0.0014	0.0013	0	0.0003	0.0040103	620	154602	rs201420102	0.0022	0.0055	0.0019	0.0024	0.0076	0.0021	0.0021	0.0069	0.0067	0.0016	0.0055	0.0030	0.0058	0.0072	0.0037	0.0016	0.0029	0.0076	0.0015	0.0041	0.0018	0.0012	0.0019	0.0012	0.0011	0.0013	0.0011	0.0018	0	0.0019	0.0009	0.0016	0.0020	0	0.0013	0	0	0.605	0.05551	T	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.89	0.45636	T	-1.17	0.29933	N	0.095	0.07535	-1.0213	0.23292	T	0.045	0.19152	T	4	0.0033916235	0.00059	T	.	.	.	0.010	0.01040	0.359	0.36222	0.082315109003	0.07666	0.008228124236654345	0.00787	1.27143699399	0.82279	.	.	.	0.010788	0.09704	T	-0.310364	0.07716	T	-0.683593	0.06767	T	0.0049955497737032	0.00054	T	0.140186	0.01129	T	0.08519536	0.19751	0.07435097	0.16256	0.08519536	0.19751	0.07435097	0.16256	-6.997	0.54012	T	.	.	0.177	0.38587	B	.	.	0.030263	0.04496	1.203	0.36374483596762708	0.02336	0.00068	0.00484	N	AEFDI	0.035273	0.04511	N	-0.712332701270957	0.15675	0.7920261	-0.811466716692036	0.14218	0.7417643	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-1.435000	0.02529	-3.306000	0.02890	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	600.84	196	chr16	15363772	.	T	A	600.84	.	AC=1;AF=0.167;AN=6;BaseQRankSum=3.39;DP=1088;ExcessHet=0;FS=18.618;MLEAC=1;MLEAF=0.167;MQ=56.55;MQRankSum=-10.54;QD=3.25;ReadPosRankSum=-5.204;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:225,0:225:0:.:.:0,0,3988:.	2	0	1	3
chr16	16273795	16273795	A	G	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	95	129	0	2	0	4	0.0152672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0348921807291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409485748	0.0008	0.0008	0.0008	0.0009	0.0079	0.0008	0.0008	0.0052	0.0043	6.898e-05	0.0003	0.0015	0	2.912e-05	0.0079	0.0006	0.0012	0.0036	0.0005	0.0005	0.0010	0	0.0021	0	0	.	.	0	0	0	0	0	0	0	0.0021	0	0	0.161	0.26300	T	0.013	0.63918	D	0.982	0.60036	D	0.715	0.54683	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.645	0.65844	-1.0958	0.04639	T	0.029	0.12234	T	10	0.10128394	0.18495	T	0.034892	0.55985	D	0.160	0.41473	0.263	0.20788	0.438593652726	0.43481	0.6076498977789883	0.60696	.	.	0.603942036629	0.53460	T	0.004737	0.09303	T	-0.356739	0.04318	T	-0.289822	0.45792	T	0.0926210135221481	0.11525	T	0.956104	0.83363	D	0.25034335	0.48035	0.16223365	0.37694	0.25034335	0.48035	0.16223365	0.37693	-5.107	0.37981	T	.	.	0.197	0.44384	B	.;.	.;.	3.155044	0.42722	21.6	0.98146118154868234	0.38647	0.77618	0.38184	D	AEFI	0.480565	0.52223	N	-0.161683254739873	0.34739	1.986566	-0.197022269048362	0.31645	1.792881	1.26429308109368E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.2	0.192	0.14415	1.099000	0.30625	2.008000	0.30152	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.5178:0.4822:0.0:0.0	11.619	0.50367	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	164.66	3	chr16	16273795	.	A	G	164.66	.	AC=4;AF=0.333;AN=12;DP=48;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=26.35;QD=27.44;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,2:2:6:62,6,0	4	2	0	0
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1667	1949.06	46	chr16	18520877	.	T	C	1949.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.269;DP=643;ExcessHet=0.4139;FS=3.738;MLEAC=2;MLEAF=0.167;MQ=32.05;MQRankSum=-2.342;QD=4.26;ReadPosRankSum=0.761;SOR=0.589	GT:AD:DP:GQ:PL	0/1:188,60:248:99:908,0,4489	4	0	2	0
chr16	18533147	18533147	C	T	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon12:c.G1253A:p.R418H,NOMO2:NM_173614:exon12:c.G1253A:p.R418H	.	544	965	13	0	0	13	0.00669068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00559288308923	0.0010	0.000998403	0.0013	0.0002	0.0006	0	0	0.0018	0.0022	0.0016	0.0011255	174	154602	rs140359200	0.0017	0.0017	0.0017	0.0018	0.0075	0.0017	0.0017	0.0054	0.0047	0.0003	0.0007	0.0024	2.52e-05	0	0.0075	0.0019	0.0018	0.0020	0.0011	0.0011	0.0012	0.0010	0.0023	0.0010	0.0009	0.0015	0.0014	0.0002	0.0132	0.0003	0.0023	0	0	0	0.0018	0.0010	0.0023	0.211	0.21066	T	0.202	0.39492	T	0.014	0.16867	B	0.005	0.11217	B	0.000002	0.62929	D	0.060274	0.999995	0.58761	D	1.43	0.35840	L	3.68	0.04228	T	-1.19	0.30346	N	0.256	0.32148	-0.9780	0.35458	T	0.012	0.04558	T	10	0.0067940354	0.00154	T	0.005593	0.14439	T	0.074	0.21613	.	.	0.229264304666	0.22521	0.41393095197811686	0.41309	.	.	0.525905013084	0.42458	T	0.013152	0.11431	T	-0.516583	0.00460	T	-0.521288	0.20164	T	0.0300199047512515	0.01993	T	0.919208	0.70896	D	0.07670785	0.17367	0.046924885	0.06647	0.07670785	0.17366	0.046924885	0.06647	-7.14	0.57017	T	.	.	0.071	0.04517	B	.;.;.;.;.	.;.;.;.;.	3.429104	0.47650	22.5	0.98519515028065607	0.42447	0.92172	0.55105	D	AEFI	0.648077	0.62302	D	-0.251513117481904	0.31044	1.736803	-0.156545236330313	0.33157	1.893783	3.23886481115548E-4	0.06540	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.178000	0.58079	4.843000	0.45303	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.8713:0.0:0.1287	7.249	0.25310	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.005479	0.004310	0.000000	0.000000	0.000000	0.008264	0.08333	2396.83	40	chr16	18533147	.	C	T	2396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=400;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-1.65;QD=10.94;ReadPosRankSum=-0.644;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	5	0	1	0
chr16	19456878	19456878	G	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon1:c.G172C:p.V58L	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0184716012957	0.0029	0.00139776	0.0033	0.0003	0.0007	0	0.0050	0.0050	0.0044	0.0007	0.0032535	503	154602	rs148716221	0.0042	0.0042	0.0042	0.0042	0.0054	0.0041	0.0041	0.0046	0.0045	0.0004	0.0013	0.0143	0	0.0036	0.0054	0.0047	0.0033	0.0008	0.0030	0.0030	0.0029	0.0031	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0039	0.0181	0	0.0026	0.0034	0.0039	0.0019	0.0025	0.6	0.05635	T	0.733	0.05109	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.19	0.04947	N	0.077	0.05162	-1.0230	0.22736	T	0.106	0.38587	T	9	0.00557822	0.00123	T	0.018472	0.40544	T	0.016	0.02506	.	.	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.630081	0.00095	T	-0.676616	0.07192	T	0.0013078764114417	0.00013	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-2.966	0.09819	T	.	.	0.087	0.10979	B	.	.	-0.101045	0.03634	0.722	0.85946810061934309	0.16214	0.01925	0.05876	N	AEFBI	0.058377	0.10948	N	-1.38344818759726	0.02793	0.1238391	-1.3631786860953	0.03653	0.170846	0.00586523105539814	0.11064	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.76	1.45	0.21708	-0.294000	0.08346	-0.031000	0.12795	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.4362:0.5638	8.156	0.30332	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1418.83	36	chr16	19456878	.	G	C	1418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.02;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1339	5	0	1	0
chr16	19699502	19699502	G	A	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon27:c.G2368A:p.A790T,VPS35L:NM_001365294:exon28:c.G2446A:p.A816T,VPS35L:NM_001365293:exon29:c.G2569A:p.A857T,VPS35L:NM_020314:exon30:c.G2647A:p.A883T,VPS35L:NM_001365295:exon31:c.G1759A:p.A587T	.	436	1018	64	4	0	72	0.0341556	0.2422	0.41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0022	0.00778754	0.0062	0.0003	0.0007	0	0.0005	0.0026	0.0100	0.0340	0.0055627	860	154602	rs34342607	0.0045	0.0045	0.0034	0.0056	0.0347	0.0044	0.0043	0.0336	0.0332	0.0004	0.0011	0.0004	0	0.0006	0.0120	0.0028	0.0043	0.0347	0.0026	0.0026	0.0024	0.0029	0.0326	0.0024	0.0023	0.0284	0.0268	0.0004	0	0.0012	0	0.0002	0.0002	0.0102	0.0029	0.0019	0.0326	0.514	0.09374	T	0.595	0.08217	T	0.001	0.07471	B	0.004	0.10090	B	0.001404	0.39109	N	0.275088	0.939711	0.37271	D	.	.	.	-0.25	0.67011	T	-0.46	0.17417	N	0.167	0.17691	-1.0187	0.24139	T	0.066	0.27330	T	9	0.0030856133	0.00051	T	.	.	.	0.115	0.32236	.	.	0.628129747422	0.62509	0.0991914943040385	0.09850	0.223371821447	0.24866	.	.	.	0.013786	0.11858	T	-0.463988	0.00928	T	-0.413501	0.31823	T	0.0127124624451056	0.00214	T	0.853715	0.54193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086578	0.41541	21.4	0.98321290364980285	0.40241	0.61960	0.31638	D	AEFBCI	0.112050	0.22163	N	-0.209700433706891	0.32736	1.849513	-0.0127522877868914	0.39137	2.316053	0.999987778612709	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.56	3.33	0.37245	4.850000	0.62587	8.324000	0.76967	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.4103:0.0:0.5897:0.0	3.356	0.06750	739	0.53257	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.006098	0.030303	0.1667	2498.06	33	chr16	19699502	.	G	A	2498.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=359;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.802;SOR=0.7	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1167,0,1578	4	0	2	0
chr16	20840358	20840358	A	G	exonic	REXO5	.	nonsynonymous SNV	REXO5:NM_001144924:exon15:c.A1516G:p.T506A,REXO5:NM_001199053:exon15:c.A1516G:p.T506A,REXO5:NM_030941:exon15:c.A1516G:p.T506A	.	441	1077	4	0	0	4	0.00185357	.	.	.	3312575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0230801504104	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.0001682	26	154602	rs147583085	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0004	0.0002	9.132e-05	0.0003	0.0006	0	0	0.0009	0.0002	0.0003	5.115e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.718e-05	0.0001	8.876e-05	7.237e-05	0	0.0003	0.0003	0	0	0	0.0002	0.0005	0	0.0	0.91255	D	0.013	0.63109	D	0.999	0.90584	D	0.961	0.86255	D	0.001144	0.40056	N	0.251209	1	0.81001	D	.	.	.	3.16	0.36691	T	-1.7	0.40468	N	0.509	0.54322	-0.7416	0.58370	T	0.174	0.51753	T	10	0.35085383	0.51948	T	0.02308	0.46020	T	0.148	0.39182	.	.	0.781317675968	0.77929	0.5745605669788275	0.57385	0.680500345339	0.59996	0.456307291985	0.32806	T	0.033391	0.22893	T	-0.298546	0.08798	T	-0.371783	0.36680	T	0.0983934689660932	0.12179	T	0.568143	0.20156	T	0.23340611	0.46144	0.1938836	0.42981	0.23340611	0.46144	0.1938836	0.42980	-6.384	0.49384	T	.	.	0.096	0.25785	B	.;.;.	.;.;.	3.693370	0.52633	23.3	0.99728209755707464	0.82549	0.81986	0.41286	D	AEFBI	0.204973	0.33136	N	0.431641825677674	0.63169	4.545654	0.379985528740297	0.60330	4.219542	0.996170839109409	0.34572	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.98	3.89	0.44098	3.637000	0.54065	3.290000	0.37298	-0.205000	0.08568	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.906:0.0:0.094:0.0	8.101	0.30015	143	0.94301	RNA recognition motif domain|RNA recognition motif domain;.;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1570.83	39	chr16	20840358	.	A	G	1570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.784;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	5	0	1	0
chr16	21117270	21117270	T	A	exonic	DNAH3	.	stopgain	DNAH3:NM_001347886:exon12:c.A1567T:p.K523X,DNAH3:NM_017539:exon12:c.A1747T:p.K583X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344103	0.13917	N	0.698819	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433096	0.91686	D	0.384336	0.91583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.346328	0.96421	36	0.99118143281297844	0.52906	0.35656	0.25352	N	AEFBHCI	0.089516	0.18143	N	0.278941667058162	0.55082	3.672592	0.0530209007992241	0.42217	2.549788	0.997817644787445	0.36062	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.503917	0.08554	0	.	.	5.39	1.64	0.22949	1.131000	0.31019	1.411000	0.26280	-0.120000	0.14102	0.972000	0.34453	0.966000	0.29516	0.891000	0.42908	0.2897:0.1754:0.0:0.5349	3.511	0.07268	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	447.83	34	chr16	21117270	.	T	A	447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.404;DP=205;ExcessHet=0;FS=6.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.887;SOR=1.296	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1176	5	0	1	0
chr16	21836585	21836585	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon8:c.G1664A:p.R555H,NPIPB4:NM_001310148:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384979:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384980:exon8:c.G1802A:p.R601H,NPIPB4:NM_001384981:exon9:c.G1793A:p.R598H,NPIPB4:NM_001384982:exon9:c.G1745A:p.R582H,NPIPB3:NM_130464:exon9:c.G1790A:p.R597H	.	662	859	1	0	0	1	0.000581734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0446521985209	.	0.000998403	0.0013	0.0008	0	0.0012	0	0.0019	0	0.0009	0.0001921	5	26028	rs547149791	0.0006	0.0004	0.0007	0.0006	0.0009	0.0006	0.0006	0.0008	0.0008	0.0002	0.0003	0.0002	0.0001	2.758e-05	0.0004	0.0009	0.0006	0.0004	0.0004	0.0004	0.0006	0.0003	0.0011	0.0003	0.0002	0.0002	0.0002	0.0004	0	0.0011	0	0	0	0	0.0005	0	0	0.117	0.28271	T	0.463	0.12491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.08	0.20255	T	-0.7	0.19933	N	0.066	0.03841	-1.0120	0.26291	T	0.050	0.21143	T	2	0.015508652	0.00325	T	0.044652	0.61597	D	0.040	0.10527	.	.	0.0954503805726	0.09146	0.017123909537193265	0.01667	.	.	.	.	.	0.015205	0.12798	T	-0.580581	0.00191	T	-0.72901	0.04372	T	0.0319597719246615	0.02300	T	0.70043	0.31009	T	0.032574374	0.03308	0.06311197	0.12451	0.032574374	0.03307	0.06311197	0.12451	-10.338	0.75910	D	.	.	0.138	0.30184	B	.	.	1.851930	0.23525	16.05	0.98964411120997076	0.49403	0.00092	0.00608	N	AEFDBI	0.034814	0.04376	N	-0.265799993426706	0.30478	1.699789	-0.384927938072897	0.25445	1.399401	1.64775418838586E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.147000	0.16021	0.356000	0.17526	0.156000	0.17708	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1081.83	37	chr16	21836585	.	C	T	1081.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=292;ExcessHet=0;FS=4.117;MLEAC=1;MLEAF=0.083;MQ=43.5;MQRankSum=-1.147;QD=11.27;ReadPosRankSum=-0.044;SOR=1.164	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	5	0	1	0
chr16	22133009	22133009	G	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.G1982A:p.R661H	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00981108398019	0.0034	0.00159744	0.0033	0.0004	0.0025	0	0.0002	0.0047	0.0034	0.0033	0.0030401	470	154602	rs193072842	0.0033	0.0034	0.0033	0.0034	0.0130	0.0033	0.0032	0.0106	0.0098	0.0007	0.0022	0.0281	7.557e-05	0.0002	0.0130	0.0031	0.0044	0.0033	0.0028	0.0027	0.0028	0.0027	0.0033	0.0025	0.0024	0.0028	0.0026	0.0006	0	0.0028	0.0317	0.0002	0	0.0034	0.0031	0.0057	0.0033	0.194	0.24277	T	0.235	0.29945	T	0.014	0.16867	B	0.01	0.14941	B	0.001147	0.40056	N	0.227351	0.750423	0.81001	D	1.475	0.37068	L	1.91	0.53088	T	-1.9	0.50337	N	0.1	0.08227	-1.1148	0.02688	T	0.068	0.28013	T	10	0.006254852	0.00141	T	0.009811	0.25586	T	0.034	0.08419	.	.	0.266385636622	0.26244	0.3237690010323594	0.32289	0.0535352238273	0.05900	0.277040153742	0.07083	T	0.015616	0.13063	T	-0.417689	0.01770	T	-0.369032	0.37003	T	0.0110051758183337	0.00159	T	0.647135	0.25820	T	0.12731166	0.29795	0.096040405	0.22802	0.12731166	0.29794	0.096040405	0.22802	-6.195	0.47882	T	.	.	0.077	0.06479	B	.;.;.	.;.;.	2.166792	0.27606	17.52	0.99773008339121061	0.86088	0.79769	0.39593	D	AEFDBI	0.291974	0.40297	N	-0.0164609820574259	0.41110	2.453219	0.128452929557453	0.46011	2.85421	0.593625954034329	0.21667	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.867000	0.48126	5.033000	0.46843	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	16.089	0.80891	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.029240	0.000000	0.000000	0.012195	0.003788	0.1667	1552.04	34	chr16	22133009	.	G	A	1552.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.74;SOR=0.767	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	1	0	0
chr16	22133039	22133039	C	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.C2012A:p.A671D	.	429	1065	26	2	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0208582834185	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0003	0.0048	0.0039	0.000608	94	154602	rs374069500	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0031	0.0001	2.237e-05	0	5.038e-05	0	0.0049	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0.0009	0.0033	0.016	0.53172	D	0.008	0.70582	D	0.999	0.77913	D	0.949	0.68658	D	0.000011	0.62929	D	0.064588	0.994438	0.81001	D	2.175	0.60977	M	2.08	0.49642	T	-3.36	0.75139	D	0.825	0.82057	-1.1573	0.00823	T	0.066	0.27260	T	10	0.016590983	0.00350	T	0.020858	0.43534	T	0.182	0.45420	.	.	0.381746406553	0.37788	0.7247431860439489	0.72418	0.290425186949	0.31450	0.509783446789	0.40192	T	0.052781	0.29257	T	-0.258757	0.13046	T	-0.146569	0.59547	T	0.101674999832226	0.12540	T	0.737426	0.35417	T	0.45108727	0.64109	0.3964381	0.64285	0.45108727	0.64110	0.3964381	0.64285	-15.395	0.96710	D	.	.	0.394	0.71148	A	.;.;.	.;.;.	3.539854	0.49704	22.8	0.99697703530154058	0.80385	0.77786	0.38287	D	AEFBI	0.238348	0.36049	N	0.42430062302623	0.62761	4.497519	0.415977930283627	0.62559	4.473425	0.00390546245915023	0.10332	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	1.772000	0.38182	4.781000	0.44836	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.075000	0.16954	0.0:0.8375:0.0:0.1625	8.553	0.32621	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.017241	0.009146	0.003788	0.08333	404.83	34	chr16	22133039	.	C	A	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.224;DP=248;ExcessHet=0;FS=2.232;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=1.33;SOR=0.62	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr16	22534139	22534139	A	C	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.A1156C:p.K386Q	.	688	828	6	0	0	6	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00251816905658	.	.	0.0026	0	0	0	0	0.0049	0	0	3.84e-05	1	26028	rs747838711	0.0004	0.0003	0.0003	0.0004	0.0037	0.0003	0.0003	0.0019	0.0014	0.0002	0.0002	0.0024	0	0	0.0037	0.0002	0.0007	0.0010	7.732e-05	0.0001	7.555e-05	7.916e-05	0.0002	1.279e-05	4.78e-06	2.644e-05	1.05e-05	0	0	0	0	0	0	0	0.0002	0	0	0.249	0.39097	T	0.329	0.26145	T	0.69	0.41631	P	0.72	0.54860	P	.	.	.	.	0.999998	0.08975	N	.	.	.	2.16	0.19166	T	-1.58	0.38151	N	0.098	0.07949	-1.0110	0.26604	T	0.068	0.27811	T	7	0.009697884	0.00218	T	0.002518	0.05037	T	0.073	0.21317	0.23	0.15705	0.0138822411134	0.00435	0.012349423033591987	0.01193	.	.	.	.	.	0.021785	0.16908	T	-0.27285	0.11440	T	-0.629706	0.10436	T	0.042061153077147	0.04066	T	0.657134	0.33779	T	0.164644	0.36686	0.107633755	0.25915	0.164644	0.36685	0.107633755	0.25914	-10.324	0.75829	D	.	.	0.534	0.66090	A	.;.;.;.;.;.	.;.;.;.;.;.	1.335908	0.17420	13.15	0.81816400437034165	0.13874	0.00436	0.02133	N	AEFI	0.025041	0.01649	N	-0.667495196499214	0.16952	0.8682191	-0.898643441091198	0.12127	0.6219524	1.72265783690442E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.942000	0.28615	-3.436000	0.02788	0.140000	0.17674	0.032000	0.20554	0.000000	0.08366	0.020000	0.11549	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	335.83	68	chr16	22534139	.	A	C	335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.531;DP=274;ExcessHet=0;FS=1.834;MLEAC=1;MLEAF=0.083;MQ=25.09;MQRankSum=-0.532;QD=4.94;ReadPosRankSum=-1.371;SOR=0.34	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	142.84	21	chr16	29382896	.	G	C	142.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.91;MQRankSum=-1.902;QD=9.52;ReadPosRankSum=-1.279;SOR=0.368	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,686	5	0	1	0
chr16	29383375	29383375	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1557delT:p.E520Sfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0051	0.0028	0.0005	0	0.0003	.	.	.	.	0.0110	0.0070	0.0119	0.0103	0.0677	0.0108	0.0106	0.0650	0.0639	0.0111	0.0225	0.0054	0.0677	0.0108	0.0070	0.0060	0.0103	0.0082	0.0016	0.0003	0.0024	0.0008	0.0176	0.0007	0.0005	0.0048	0.0026	0	0	0	0	0.0176	0	0	0.0013	0	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	205.79	182	chr16	29383374	.	CA	C	205.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.176;DP=491;ExcessHet=0;FS=7.824;MLEAC=1;MLEAF=0.083;MQ=51.15;MQRankSum=2.8;QD=1.13;ReadPosRankSum=-3.553;SOR=1.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:96:.:.:0,96,1440:.	5	0	1	0
chr16	29383572	29383574	TAT	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.1358_1360del:p.N453del	.	588	894	40	0	0	40	0.0218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0069	0.0158	0	0.0022	0.0195	0.0060	0.0102	3.84e-05	1	26028	rs746135908	0.0063	0.0059	0.0057	0.0068	0.0208	0.0061	0.0061	0.0171	0.0157	0.0017	0.0065	0.0183	0	0.0051	0.0208	0.0064	0.0094	0.0024	0.0053	0.0058	0.0051	0.0055	0.0074	0.0048	0.0046	0.0066	0.0064	0.0011	0.0093	0.0045	0.0117	0	0.0012	0.0294	0.0074	0.0035	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2402.99	43	chr16	29383571	.	ATAT	A	2402.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.305;DP=446;ExcessHet=1.383;FS=8.052;MLEAC=3;MLEAF=0.25;MQ=35.66;MQRankSum=-0.782;QD=8.64;ReadPosRankSum=0.166;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:86:99:0|1:29383571_ATAT_A:552,0,2735:29383571	3	0	3	0
chr16	29384067	29384067	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C865G:p.L289V	.	490	1000	31	1	0	33	0.0162322	.	.	.	3886674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00158488070502	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202027988	0.0025	0.0051	0.0025	0.0025	0.0059	0.0024	0.0024	0.0038	0.0031	0.0013	0.0034	0.0092	0.0007	0.0040	0.0059	0.0024	0.0035	0.0017	0.0030	0.0051	0.0032	0.0028	0.0043	0.0027	0.0026	0.0038	0.0036	0.0005	0	0.0029	0.0074	0	0.0017	0.0069	0.0043	0.0008	0.0005	0.809	0.03044	T	0.677	0.06166	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	1.24	0.30952	L	2.11	0.19860	T	-0.14	0.09135	N	0.125	0.11769	-0.9730	0.36562	T	0.036	0.15422	T	5	0.020652711	0.00480	T	0.001585	0.02523	T	0.057	0.16321	0.6	0.73105	0.0666544352282	0.05500	0.012093240479471065	0.01168	.	.	.	.	.	0.004977	0.04407	T	-0.338299	0.05507	T	-0.72372	0.04618	T	0.00418858953756029	0.00045	T	0.487551	0.14930	T	0.06426165	0.13616	0.08630407	0.19986	0.06426165	0.13615	0.08630407	0.19986	-9.7	0.72096	D	.	.	0.202	0.42606	B	.	.	0.893099	0.12667	9.190	0.44852604465017715	0.03478	0.00304	0.01615	N	AEFDI	0.042671	0.06650	N	-0.899904461991242	0.10845	0.5202724	-1.10071547162413	0.07687	0.3748907	1.09537333666636E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	.	.	.	0.289000	0.18713	-4.996000	0.01894	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	1410.75	35	chr16	29384067	.	G	C	1410.75	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.762;DP=434;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=36.5;MQRankSum=-0.551;QD=28.04;ReadPosRankSum=1.07;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800:.	4	1	0	1
chr16	29485598	29485598	A	G	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.T878C:p.L293P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00150212232846	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315122740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.139e-05	9.735e-05	6.099e-05	0	0.0001	5.21e-06	1.95e-06	.	.	0	0	0.0001	0	0	0	0	2.956e-05	0	0	0.061	0.37118	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.84	0.24656	T	-3.8	0.71762	D	0.363	0.40465	-1.0100	0.26917	T	0.053	0.22501	T	4	0.17462781	0.32352	T	0.001502	0.02318	T	0.048	0.13305	0.573	0.69695	0.43965937752	0.43585	.	.	.	.	.	.	.	.	.	.	-0.170465	0.25162	T	-0.482637	0.24166	T	0.208980127064429	0.20900	T	0.478952	0.18591	T	.	.	.	.	.	.	.	.	-8.118	0.61872	D	.	.	0.286	0.51815	B	.;.	.;.	1.249461	0.16459	12.55	0.38213908120439488	0.02564	0.00225	0.01265	N	AEFI	0.064475	0.12523	N	-0.761607943211659	0.14320	0.7123528	-0.999353090598067	0.09799	0.4896926	1.09520797775859E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.127000	0.15617	-5.574000	0.01670	0.145000	0.17680	0.028000	0.20300	0.000000	0.08366	0.028000	0.12845	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	249.7	36	chr16	29485598	.	A	G	249.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.698;DP=456;ExcessHet=0;FS=3.103;MLEAC=1;MLEAF=0.1;MQ=36.57;MQRankSum=-0.117;QD=1.6;ReadPosRankSum=0.195;SOR=1.049	GT:AD:DP:GQ:PL	./.:115,0:115:0:0,0,1019	4	0	1	1
chr16	29813701	29813701	C	T	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C647T:p.P216L,PRRT2:NM_001256443:exon2:c.C647T:p.P216L,PRRT2:NM_145239:exon2:c.C647T:p.P216L	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1502	15	0	5	20	0.00496853	.	.	YES	102388	Seizure|Infantile_convulsions_and_choreoathetosis|Seizures,_benign_familial_infantile,_2|Episodic_kinesigenic_dyskinesia_1|Episodic_kinesigenic_dyskinesia|not_provided|Inborn_genetic_diseases|not_specified	Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.341	.	0.0057	0.00239617	0.0077	0.0015	0.0013	0.0001	0.0137	0.0111	0.0043	0.0036	0.006507	1006	154602	rs76335820	0.0096	0.0095	0.0097	0.0095	0.0112	0.0095	0.0094	0.0110	0.0109	0.0011	0.0027	0.0007	0	0.0128	0.0027	0.0112	0.0063	0.0035	0.0063	0.0063	0.0066	0.0060	0.0097	0.0060	0.0059	0.0091	0.0089	0.0017	0	0.0041	0.0012	0	0.0130	0.0034	0.0097	0.0047	0.0039	0.0	0.91255	D	0.015	0.66756	D	0.991	0.67487	D	0.831	0.65474	P	0.007550	0.31331	N	0.303702	0.999938	0.51612	D	0.895	0.22405	L	-2.78	0.92667	D	0.38	0.06612	N	0.323	0.36464	0.402	0.89119	D	0.622	0.86676	D	10	0.008844793	0.00200	T	.	.	.	0.341	0.66297	.	.	0.976547370802	0.97629	0.3560511839605567	0.35519	0.863688015342	0.69086	0.577106118202	0.49677	T	0.021672	0.16835	T	-0.235469	0.15931	T	-0.100624	0.63350	T	0.0210694334475294	0.00809	T	0.838216	0.51127	T	0.22146279	0.44724	0.3419317	0.59926	0.19322316	0.41023	0.3408161	0.59829	-3.693	0.22152	T	0.4533608968774695	0.53679	0.181	0.62888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.490871	0.70148	25.5	0.99884238346807741	0.95970	0.74011	0.36201	D	AEFBI	0.507554	0.53780	D	0.233231505349053	0.52814	3.453444	0.190139361039524	0.49306	3.135342	0.999999995407312	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.613276	0.41899	0	.	.	3.9	3.9	0.44240	2.276000	0.43067	7.643000	0.63297	0.599000	0.40250	0.144000	0.23566	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.795	0.62654	258	0.89879	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76335820	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	434.83	34	chr16	29813701	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=206;ExcessHet=0;FS=1.229;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.581;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	5	0	1	0
chr16	29897091	29897091	G	A	exonic	SEZ6L2	.	nonsynonymous SNV	SEZ6L2:NM_001243333:exon2:c.C110T:p.P37L,SEZ6L2:NM_001114100:exon3:c.C242T:p.P81L,SEZ6L2:NM_001243332:exon3:c.C242T:p.P81L,SEZ6L2:NM_201575:exon3:c.C242T:p.P81L	.	408	1113	1	0	0	1	0.000449035	.	.	.	703626	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0061	0.00519169	0.0027	0.0365	0.0008	0	0	5.859e-05	0.0053	9.895e-05	0.001727	267	154602	rs187804176	0.0006	0.0006	0.0007	0.0006	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0008	3.536e-05	0.0014	3.575e-05	0.0071	0.0071	0.0072	0.0069	0.0246	0.0067	0.0066	0.0233	0.0228	0.0246	0	0.0029	0	0	0	0.0068	5.882e-05	0.0028	0	0.004	0.78490	D	0.014	0.62352	D	0.001	0.07471	B	0.001	0.04355	B	0.026610	0.25890	N	0.270105	0.984498	0.81001	D	1.445	0.36358	L	0.92	0.44461	T	-0.39	0.26422	N	0.244	0.49237	-1.0842	0.06553	T	0.022	0.09513	T	9	0.0049299	0.00106	T	.	.	.	0.050	0.13987	.	.	0.580411381372	0.57712	0.6906129853749136	0.69001	0.555825171214	0.52270	0.576260566711	0.49558	T	0.160542	0.50443	T	-0.53321	0.00368	T	-0.519099	0.20385	T	0.0311172165124177	0.02164	T	0.949605	0.80601	D	0.10528081	0.24892	0.084244885	0.19364	0.10528081	0.24892	0.084244885	0.19364	-3.918	0.25068	T	.	.	0.112	0.21803	B	.;.;.;.;.	.;.;.;.;.	3.789435	0.54539	23.5	0.99680314822811511	0.79174	0.75492	0.36965	D	AEFBI	0.287001	0.39925	N	-0.162172455225538	0.34719	1.985124	0.0281908103866203	0.41029	2.458191	0.998811326857261	0.37733	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.668105	0.65232	0	.	.	5.36	4.31	0.50718	0.967000	0.28941	9.579000	0.81025	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.966000	0.53164	0.0924:0.0:0.7307:0.1769	7.597	0.27219	246	0.90367	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000524	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	318.83	39	chr16	29897091	.	G	A	318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.151;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	5	0	1	0
chr16	29987892	29987892	C	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.C3620T:p.P1207L,TAOK2:NM_001252043:exon17:c.C3281T:p.P1094L	.	.	.	.	.	.	.	.	.	.	.	1382915	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0250278955902	0.0002	.	0.0001	0.0012	0.0002	0	0	0	0.0017	0	7.12e-05	11	154602	rs373807941	4.437e-05	4.446e-05	4.687e-05	4.184e-05	0.0014	3.556e-05	3.236e-05	0.0011	0.0010	0.0014	0.0001	0	0	0	0.0004	0	0.0002	1.176e-05	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.541e-05	0	0	0	0	0	0	0	0.488	0.91255	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.06944	B	0.757355	0.06519	N	1.131410	1	0.19694	N	0.345	0.11182	N	-0.39	0.69158	T	-0.4	0.13805	N	0.186	0.28264	-0.9915	0.32218	T	0.142	0.46367	T	9	0.014512092	0.00305	T	0.025028	0.48012	D	0.106	0.30130	.	.	0.184605227958	0.18053	0.2045062377690836	0.20367	0.392072762019	0.40400	0.430480837822	0.29275	T	0.113638	0.43084	T	-0.40715	0.02077	T	-0.398152	0.33598	T	0.0149039561583878	0.00317	T	0.712229	0.32360	T	0.018806808	0.00404	0.022120755	0.00243	0.018806808	0.00403	0.022120755	0.00243	-3.608	0.17973	T	.	.	0.068	0.13174	B	.;.;.	.;.;.	1.456221	0.18780	13.92	0.89900373739643713	0.19201	0.15532	0.18958	N	AEFDBI	0.067339	0.13233	N	-0.750292067897804	0.14624	0.730113	-0.70351045253874	0.16872	0.8946406	0.148761113856394	0.17404	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	3.07	0.34476	0.927000	0.28418	1.444000	0.26551	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.427000	0.27384	0.0:0.7475:0.0:0.2525	5.626	0.16761	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1402.83	38	chr16	29987892	.	C	T	1402.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.293;DP=282;ExcessHet=0;FS=3.078;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=0.677;SOR=0.385	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,104,1388	5	0	1	0
chr16	29993468	29993468	T	C	exonic	HIRIP3	.	nonsynonymous SNV	HIRIP3:NM_003609:exon6:c.A1498G:p.S500G	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0254119739495	0.0024	0.00139776	0.0006	0.0062	0.0003	0	0	3.017e-05	0.0045	0	0.0005627	87	154602	rs139374551	0.0002	0.0002	0.0002	0.0001	0.0054	0.0001	0.0001	0.0047	0.0045	0.0054	0.0003	0	0	0	0.0005	3.6e-06	0.0005	5.8e-05	0.0018	0.0018	0.0019	0.0016	0.0063	0.0016	0.0015	0.0056	0.0054	0.0063	0	0.0004	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.018	0.59732	D	0.943	0.53072	P	0.492	0.47401	P	0.002635	0.36208	N	0.275022	1	0.81001	D	2.08	0.57402	M	0.5	0.55608	T	-2.82	0.59545	D	0.296	0.33469	-0.9611	0.38974	T	0.088	0.34105	T	10	0.006287575	0.00142	T	0.025412	0.48380	D	0.151	0.39764	.	.	0.746532560806	0.74424	0.199277183188883	0.19844	0.302961409508	0.32622	0.479249596596	0.35953	T	0.055858	0.30123	T	-0.449933	0.01130	T	-0.416045	0.31529	T	0.0381929577216729	0.03366	T	0.718628	0.33152	T	0.67134005	0.76504	0.5046969	0.71371	0.67134005	0.76506	0.5046969	0.71371	-10.007	0.73954	D	.	.	0.122	0.25429	B	.	.	3.202526	0.43554	21.8	0.99649639326353223	0.77192	0.79733	0.39568	D	AEFDBI	0.142636	0.26513	N	0.135555891635963	0.48128	3.029131	0.15614961964511	0.47469	2.976637	0.999999993081916	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.54	5.54	0.82907	1.300000	0.33040	5.056000	0.47043	0.665000	0.62972	0.939000	0.32602	1.000000	0.68203	0.347000	0.25591	0.0:0.0885:0.0:0.9115	8.224	0.30718	74	0.96871	Histone chaperone domain CHZ|Histone chaperone domain CHZ	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1212.83	36	chr16	29993468	.	T	C	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.908;DP=294;ExcessHet=0;FS=3.422;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.21;SOR=1.037	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1233	5	0	1	0
chr16	30007177	30007177	A	G	exonic	DOC2A	.	nonsynonymous SNV	DOC2A:NM_001282068:exon6:c.T650C:p.V217A,DOC2A:NM_003586:exon6:c.T650C:p.V217A,DOC2A:NM_001282062:exon7:c.T650C:p.V217A,DOC2A:NM_001282063:exon7:c.T650C:p.V217A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0148902556742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.559	0.35082	T	0.007	0.14184	B	0.005	0.11217	B	0.025816	0.26025	N	0.268850	0.932808	0.37034	D	0.235	0.09667	N	1.11	0.61677	T	-2.33	0.51646	N	0.105	0.08925	-1.0727	0.08830	T	0.047	0.20156	T	10	0.099024594	0.17943	T	0.01489	0.35296	T	0.033	0.08068	0.395	0.42099	0.540427443213	0.53695	0.38813032675662695	0.38728	0.437537583899	0.43807	0.475907772779	0.35494	T	0.160175	0.50391	T	-0.162042	0.26445	T	-0.470539	0.25457	T	0.447261273860931	0.30697	T	0.544846	0.19617	T	0.11666677	0.27514	0.10189175	0.24406	0.11666677	0.27513	0.10189175	0.24406	-6.03	0.46530	T	.	.	0.211	0.44643	B	.;.;.;.;.	.;.;.;.;.	2.612829	0.33937	19.49	0.98635014529071618	0.43974	0.75078	0.36745	D	AEFDGBCI	0.539085	0.55621	D	-0.530905874999377	0.21086	1.116475	-0.33881272779723	0.26857	1.486247	0.999971051639374	0.50053	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.14	2.88	0.32617	2.575000	0.45689	4.650000	0.44192	0.691000	0.84096	0.362000	0.25859	1.000000	0.68203	0.960000	0.51673	0.8248:0.0:0.1752:0.0	7.867	0.28704	74	0.96871	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	76	chr16	30007177	.	A	G	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.35;DP=257;ExcessHet=0;FS=5.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=0.461;SOR=1.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1193:.	5	0	1	0
chr16	30121912	30121912	T	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.A265G:p.I89V,MAPK3:NM_001109891:exon2:c.A265G:p.I89V,MAPK3:NM_002746:exon2:c.A265G:p.I89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0340490209091	0.0005	.	0.0001	0.0010	0.0002	0	0	0	0.0011	0	9.06e-05	14	154602	rs141047495	4.788e-05	4.857e-05	5.173e-05	4.4e-05	0.0016	3.86e-05	3.54e-05	0.0012	0.0011	0.0016	0.0001	0	0	0	0.0003	0	0.0002	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	6.546e-05	0	0	0	0	0	0	0	0.023	0.48642	D	0.037	0.51737	D	0.759	0.43487	P	0.405	0.44649	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.45	0.36711	L	-0.21	0.66294	T	-0.79	0.21860	N	0.629	0.64308	-0.5919	0.65144	T	0.235	0.60173	T	10	0.12631747	0.24012	T	0.034049	0.55408	D	0.239	0.54358	.	.	0.799435439029	0.79756	0.26473257628815705	0.26386	0.803677743758	0.66365	0.784126579762	0.79552	T	0.156313	0.49842	T	-0.264961	0.12325	T	-0.198927	0.54749	T	0.0391067246801186	0.03528	T	0.941606	0.78301	D	0.4124305	0.61584	0.22739246	0.47748	0.4124305	0.61584	0.22739246	0.47747	-9.388	0.72960	D	.	.	0.532	0.67407	A	.;.;.;.;.	.;.;.;.;.	4.453467	0.69252	25.3	0.99867467440655167	0.94547	0.91833	0.54361	D	AEFDGBHCI	0.871826	0.79340	D	0.233568745375249	0.52832	3.45499	0.369504640384717	0.59692	4.149144	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.63	5.63	0.86108	6.223000	0.72203	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	14.819	0.69684	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	985.83	38	chr16	30121912	.	T	C	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=259;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.181;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	5	0	1	0
chr16	30225638	30225638	C	G	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G808C:p.V270L,NPIPB13:NM_001321892:exon9:c.G808C:p.V270L	.	1091	421	5	4	1	14	0.0152047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0869475607694	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202025137	0.0015	0.0037	0.0016	0.0014	0.0072	0.0013	0.0012	0.0050	0.0043	0.0047	0.0072	0.0003	0.0003	0.0002	0.0021	0.0014	0.0022	0.0010	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.884	0.13403	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	1.31	0.35405	T	1.14	0.01166	N	0.103	0.08646	-0.9744	0.36257	T	0.035	0.15291	T	4	0.0025018156	0.00038	T	0.086948	0.74839	D	0.061	0.17616	0.426	0.47185	.	.	0.005461785062630527	0.00516	.	.	.	.	.	0.002966	0.02360	T	-0.295652	0.09077	T	-0.66246	0.08101	T	0.00112701050323918	0.00011	T	0.476552	0.14308	T	0.095700875	0.22528	0.09085976	0.21331	0.095700875	0.22527	0.09085976	0.21330	1.963	0.00053	T	.	.	0.142	0.31228	B	.;.	.;.	-0.811828	0.01084	0.048	0.62845941236739977	0.07068	0.00123	0.00769	N	AEFI	0.047204	0.07923	N	-0.701241767677131	0.15986	0.8105718	-0.708268021337421	0.16755	0.8878261	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.913000	0.01672	-1.731000	0.04830	-1.668000	0.00804	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	263	0.89692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	85.44	3	chr16	30225638	.	C	G	85.44	.	AC=2;AF=0.333;AN=6;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=30.29;QD=28.48;SOR=2.833	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	3
chr16	30353440	30353440	G	A	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.C736T:p.P246S,CD2BP2:NM_006110:exon5:c.C736T:p.P246S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0153507912001	.	.	8.253e-06	9.653e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs768245225	3.42e-06	3.42e-06	2.722e-06	4.125e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	2.987e-05	0	0	5.038e-05	0	0	8.993e-07	1.656e-05	0	2.629e-05	2.627e-05	3.854e-05	1.346e-05	9.658e-05	8.14e-06	5.14e-06	3.251e-05	1.916e-05	9.658e-05	0	0	0	0	0	0	0	0	0	0.327	0.13262	T	0.406	0.14725	T	0.817	0.45613	P	0.275	0.40079	B	0.000030	0.55875	D	0.156600	0.984131	0.40105	D	1.725	0.44537	L	1.62	0.28189	T	0.65	0.02332	N	0.362	0.40364	-1.0727	0.08830	T	0.065	0.26702	T	10	0.2269006	0.39556	T	0.015351	0.36031	T	0.155	0.40530	0.172	0.07774	0.458554320643	0.45480	0.4100015250043565	0.40916	0.311728463542	0.33480	0.42526704073	0.28561	T	0.004923	0.04343	T	-0.21859	0.18185	T	-0.370238	0.36861	T	0.270276963710785	0.23759	T	0.780822	0.41560	T	0.09540268	0.22451	0.11895055	0.28711	0.09540268	0.22451	0.11895055	0.28710	-4.052	0.24579	T	.	.	0.081	0.08272	B	.;.	.;.	2.856667	0.37735	20.6	0.99589986232529792	0.73572	0.93537	0.58487	D	AEFBCI	0.360356	0.45036	N	0.0313110371780036	0.43284	2.624335	0.0851975327894323	0.43803	2.674584	0.999999995845914	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	3.095000	0.49927	11.894000	0.99172	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.105000	0.18517	0.0:0.0:1.0:0.0	17.856	0.88677	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	5108.06	34	chr16	30353440	.	G	A	5108.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.041;DP=508;ExcessHet=0.4139;FS=3.412;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.513;SOR=0.884	GT:AD:DP:GQ:PL	0/1:70,97:167:99:2499,0,1841	4	0	2	0
chr16	30353722	30353722	T	C	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.A454G:p.M152V,CD2BP2:NM_006110:exon5:c.A454G:p.M152V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00346990941411	7.7e-05	.	2.599e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs372551765	3.971e-05	3.967e-05	4.632e-05	3.303e-05	0.0016	3.115e-05	2.849e-05	0.0008	0.0006	5.975e-05	0	0	2.519e-05	0	0.0016	3.868e-05	0	3.478e-05	4.6e-05	4.597e-05	7.71e-05	1.345e-05	0.0001	2.109e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.728	0.03834	T	0.563	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	0.000037	0.55875	D	0.164696	0.999946	0.19238	N	0.475	0.13142	N	1.67	0.27331	T	-0.19	0.09965	N	0.245	0.27792	-0.9914	0.32244	T	0.027	0.11751	T	10	0.037391394	0.02090	T	0.00347	0.07847	T	0.088	0.25558	.	.	0.187945064343	0.18414	0.28202786634924615	0.28115	0.0772688110211	0.08684	0.506601452827	0.39748	T	0.004565	0.03968	T	-0.378097	0.03202	T	-0.596871	0.13076	T	0.0239073666811275	0.01133	T	0.567243	0.20104	T	0.09162422	0.21475	0.076783426	0.17040	0.09162422	0.21475	0.076783426	0.17040	-1.449	0.01663	T	.	.	0.058	0.00754	B	.;.	.;.	3.654516	0.51883	23.2	0.57375179615807204	0.05755	0.27856	0.23393	N	AEFDBCI	0.094266	0.19063	N	-1.05796126815312	0.07432	0.3452343	-0.940339962961932	0.11148	0.5661516	0.999914351820558	0.45857	0.722319	0.85440	0	0.685571	0.66316	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.06	-0.589	0.11097	-0.056000	0.11744	0.229000	0.16167	-0.147000	0.12262	0.012000	0.18695	0.040000	0.21562	0.875000	0.41745	0.1909:0.0:0.4117:0.3974	7.101	0.24517	199	0.92292	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.1667	2333.06	34	chr16	30353722	.	T	C	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.045;DP=297;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.78;SOR=0.695	GT:AD:DP:GQ:PL	0/1:26,46:72:99:1203,0,663	4	0	2	0
chr16	30445402	30445402	C	T	exonic	SEPHS2	.	unknown	UNKNOWN	.	432	1087	3	0	0	3	0.00137804	.	.	.	2234600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00535453694214	0.0012	0.000599042	0.0006	0	0.0005	0	0.0003	0.0010	0	8.749e-05	0.000414	64	154602	rs199977814	0.0005	0.0005	0.0006	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	6.016e-05	0.0002	0.0004	0	2.083e-05	0.0014	0.0006	0.0004	8.256e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0003	7.213e-05	0	0.0006	0.0006	0	0	0.0034	0.0005	0.0005	0	0.31	0.14017	T	0.502	0.11115	T	0.001	0.07471	B	0.002	0.06944	B	0.288056	0.14820	N	0.678614	1	0.21047	N	0.695	0.17993	N	0.92	0.44461	T	-0.45	0.14782	N	.	.	-1.0321	0.19777	T	0.041	0.17573	T	10	0.01179269	0.00256	T	0.005355	0.13710	T	0.027	0.05988	.	.	0.218845423259	0.21516	.	.	.	.	0.43881291151	0.30414	T	0.00695	0.06374	T	-0.604599	0.00137	T	-0.746557	0.03622	T	0.0107263604598186	0.00151	T	0.316168	0.06277	T	0.05404938	0.10317	0.07012991	0.14863	0.05404938	0.10316	0.07012991	0.14863	.	.	.	.	.	.	.	.	.	.	0.947722	0.13235	9.738	0.88313106317929901	0.17879	0.04861	0.10598	N	ALL	0.159826	0.28567	N	-1.20465308093638	0.04930	0.2236389	-1.15823762601123	0.06621	0.3193184	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.4	1.65	0.23015	0.594000	0.23715	0.008000	0.13396	-0.223000	0.07921	0.125000	0.23262	0.005000	0.19230	0.047000	0.14932	0.294:0.447:0.1429:0.1162	2.461	0.04263	260	0.89800	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.08333	1082.83	72	chr16	30445402	.	C	T	1082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.974;DP=247;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.493;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	5	0	1	0
chr16	30583200	30583200	A	C	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.T578G:p.V193G	.	427	1059	35	1	0	37	0.0171694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0084	0.00299521	0.0083	0.0014	0.0075	0.0001	0.0014	0.0124	0.0056	0.0043	0.008441	1305	154602	rs35215913	0.0097	0.0097	0.0096	0.0097	0.0347	0.0095	0.0095	0.0307	0.0292	0.0025	0.0088	0.0360	2.519e-05	0.0015	0.0347	0.0100	0.0130	0.0057	0.0085	0.0085	0.0090	0.0080	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0413	0.0006	0.0008	0.0340	0.0118	0.0123	0.0042	0.026	0.56456	D	0.004	0.74150	D	0.025	0.59353	B	0.027	0.65999	B	.	.	.	.	1	0.08975	N	1.4	0.35362	L	0.68	0.51952	T	-4.28	0.78553	D	0.145	0.14622	-0.8910	0.48846	T	0.177	0.52178	T	9	0.005142987	0.00112	T	.	.	.	0.108	0.30607	.	.	0.137902524267	0.13322	0.09788473330174625	0.09719	1.51491552847	0.87300	0.541760087013	0.44694	T	0.075017	0.35078	T	-0.605494	0.00135	T	-0.631495	0.10302	T	0.0371414656308382	0.03181	T	0.247575	0.03662	T	0.25864074	0.48914	0.17264035	0.39534	0.25864074	0.48914	0.17264035	0.39533	-7.663	0.59035	D	.	.	0.480	0.64731	A	.;.	.;.	1.452523	0.18737	13.90	0.98991087645046205	0.49943	0.05448	0.11325	N	AEFDBI	0.091409	0.18515	N	-0.682885310577017	0.16509	0.8417803	-0.880007790065353	0.12568	0.647249	0.024217103947528	0.13563	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	3.88	-1.14	0.09241	-1.019000	0.03733	-2.951000	0.03199	-0.060000	0.16637	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.52:0.1714:0.3086:0.0	4.346	0.10570	176	0.93188	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35215913	Likely benign	0	0	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	0.036254	0.070707	0.040761	0.070175	0.050000	0.017241	0.015244	0.011364	0.1667	2040.06	33	chr16	30583200	.	A	C	2040.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=272;ExcessHet=0.4139;FS=5.44;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=1.14;SOR=0.361	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1113,0,1018	4	0	2	0
chr16	30583423	30583423	C	T	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.G355A:p.E119K	.	418	1068	35	1	0	37	0.0170272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0085	0.00299521	0.0082	0.0014	0.0073	0.0001	0.0014	0.0120	0.0037	0.0037	0.0084281	1303	154602	rs35974081	0.0095	0.0095	0.0096	0.0095	0.0347	0.0094	0.0093	0.0307	0.0291	0.0025	0.0093	0.0356	2.563e-05	0.0015	0.0347	0.0099	0.0126	0.0054	0.0085	0.0085	0.0090	0.0079	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0412	0.0006	0.0008	0.0340	0.0117	0.0123	0.0042	0.436	0.09374	T	0.766	0.06265	T	0.324	0.33106	B	0.093	0.30104	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.42	0.05507	T	-0.08	0.12283	N	0.186	0.20262	-0.9882	0.33052	T	0.005	0.01797	T	9	0.0026192963	0.00040	T	.	.	.	0.038	0.09825	.	.	0.0482279557977	0.04254	0.1372591504599264	0.13649	0.511365231531	0.49213	0.515919387341	0.41052	T	0.004446	0.03847	T	-0.621603	0.00107	T	-0.654635	0.08632	T	0.00059005552276125	0.00005	T	0.50095	0.15685	T	0.022941232	0.00993	0.034488097	0.02525	0.022941232	0.00993	0.034488097	0.02524	-3.589	0.22813	T	.	.	0.097	0.15921	B	.;.	.;.	0.337488	0.07112	3.688	0.98818526866648293	0.46736	0.00819	0.03310	N	AEFBI	0.026200	0.01926	N	-1.00077854424395	0.08588	0.4032363	-1.03187283093451	0.09089	0.4502492	0.11431094478075	0.16729	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.64	1.66	0.23081	0.177000	0.16615	-0.684000	0.07871	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.138000	0.19872	0.0:0.8217:0.0:0.1783	4.796	0.12642	176	0.93188	.;.	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35974081	Likely benign	0	0	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	0.035247	0.065657	0.042120	0.070175	0.050000	0.017241	0.012195	0.011364	0.1667	3096.06	33	chr16	30583423	.	C	T	3096.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.47;DP=390;ExcessHet=0.4139;FS=2.859;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.95;SOR=0.885	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1451,0,1793	4	0	2	0
chr16	30698151	30698151	G	C	exonic	LOC730183	.	nonsynonymous SNV	LOC730183:NM_001256932:exon1:c.C158G:p.S53C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs745382343	5.994e-05	4.788e-05	4.608e-05	7.472e-05	0.0021	4.787e-05	4.35e-05	0.0016	0.0014	0.0021	0.0002	0	0	0	0.0004	5.679e-06	0.0002	4.748e-05	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	714.83	41	chr16	30698151	.	G	C	714.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.817;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.32;ReadPosRankSum=0.865;SOR=0.551	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr16	30722220	30722220	A	T	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon22:c.A3640T:p.N1214Y	Floating-Harbor syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.173058254266	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs758085903	2.257e-05	2.257e-05	2.314e-05	2.2e-05	0.0002	1.61e-05	1.416e-05	0.0001	9.45e-05	0	0	0	0	0	0	1.529e-05	0	0.0002	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.316	0.30828	T	0.999	0.77913	D	0.956	0.69739	D	0.000047	0.53742	D	0.000000	0.912589	0.36451	D	1.445	0.36358	L	-3.75	0.95528	D	-1.98	0.45769	N	0.647	0.65844	0.316	0.87806	D	0.830	0.94288	D	10	0.55072236	0.64240	D	0.173058	0.84986	D	0.669	0.87722	0.432	0.48171	0.411923116668	0.40804	0.6250736440495511	0.62440	1.331011174	0.83652	0.815822780132	0.84387	D	0.046928	0.27572	T	0.173461	0.71441	D	0.192916	0.82736	D	0.778744220733643	0.44972	D	0.934407	0.75457	D	0.24762751	0.47743	0.33557704	0.59370	0.24762751	0.47743	0.33557704	0.59369	-15.892	0.97595	D	0.4904922084597639	0.56748	0.898	0.82647	P	.;.	.;.	4.731877	0.76216	26.5	0.98965677379977746	0.49423	0.97297	0.73868	D	AEFBCI	0.822214	0.74259	D	0.537516997059699	0.69324	5.340946	0.546608730568342	0.71161	5.61297	0.999999997615392	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	7.499000	0.80410	11.282000	0.91772	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9074:0.0:0.0926:0.0	8.014	0.29530	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	769.83	35	chr16	30722220	.	A	T	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=241;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.35;SOR=1.236	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	5	0	1	0
chr16	30724027	30724027	C	G	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon25:c.C4603G:p.P1535A	Floating-Harbor syndrome, Autosomal dominant	1	1480	41	0	0	41	0.0136621	.	.	.	169198	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.166	.	0.0063	0.00319489	0.0069	0.0013	0.0062	0.0001	0.0014	0.0100	0.0055	0.0041	0.0068951	1066	154602	rs117804715	0.0077	0.0077	0.0077	0.0077	0.0262	0.0076	0.0075	0.0228	0.0215	0.0019	0.0079	0.0228	2.519e-05	0.0014	0.0262	0.0080	0.0092	0.0057	0.0066	0.0066	0.0071	0.0061	0.0113	0.0063	0.0061	0.0099	0.0094	0.0014	0	0.0113	0.0242	0.0006	0.0007	0.0204	0.0093	0.0118	0.0035	0.004	0.65419	D	0.019	0.59159	D	0.045	0.21781	B	0.012	0.16012	B	0.001773	0.38052	N	0.121034	0.99237	0.27992	N	0.805	0.20218	L	-2.85	0.91363	D	-1.86	0.43524	N	0.122	0.17278	-0.5255	0.67711	T	0.388	0.74312	T	10	0.003346175	0.00058	T	.	.	.	0.166	0.42578	.	.	0.171220215726	0.16700	0.14443267510634614	0.14366	0.409613746433	0.41775	0.432179421186	0.29506	T	0.047445	0.27724	T	-0.401756	0.02255	T	-0.34191	0.40127	T	0.0111071003715947	0.00162	T	0.837516	0.51030	T	0.05706521	0.11311	0.077916384	0.17403	0.06670216	0.14376	0.07444466	0.16284	-5.198	0.38921	T	0.1859785009534004	0.24187	0.076	0.06114	B	.;.	.;.	2.787215	0.36630	20.3	0.97774561931433468	0.35894	0.52099	0.29051	D	AEFDBCI	0.081452	0.16482	N	-0.496018163434093	0.22210	1.184365	-0.364365858900063	0.26068	1.437536	0.999971470864979	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	2.48	0.29194	0.783000	0.26463	1.813000	0.28978	0.549000	0.26987	0.012000	0.18695	1.000000	0.68203	0.998000	0.85391	0.0:0.6961:0.1428:0.1611	7.061	0.24304	10	0.99061	.;.	.	.	.	.	.	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	0.027694	0.030303	0.029891	0.061404	0.050000	0.017241	0.018293	0.011364	0.1667	5652.06	39	chr16	30724027	.	C	G	5652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.01;DP=567;ExcessHet=0.4139;FS=0.756;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.37;SOR=0.754	GT:AD:DP:GQ:PL	0/1:87,119:206:99:3172,0,2390	4	0	2	0
chr16	30965757	30965757	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon8:c.C1876T:p.P626S	.	.	.	.	.	.	.	.	.	.	.	2731415	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.261	0.0525791148518	0.0003	0.000199681	0.0002	0.0012	0.0004	0	0	0	0	0.0001	9.7e-05	15	154602	rs148246624	8.377e-05	7.251e-05	7.955e-05	8.809e-05	0.0025	7.041e-05	6.579e-05	0.0020	0.0018	0.0025	0.0002	0	4.545e-05	0	0.0007	3.082e-06	0.0002	0.0001	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0014	0.0012	0.0017	0	0.0002	0	0	0	0	0	0	0.0005	0.0	0.91255	D	0.013	0.63109	D	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.62929	D	0.000000	0.981844	0.25009	N	1.24	0.30952	L	-3.81	0.95728	D	-2.64	0.56630	D	0.349	0.39052	-0.2908	0.75243	T	0.671	0.88583	D	10	0.018258065	0.00396	T	0.052579	0.65125	D	0.261	0.57352	.	.	0.397201501934	0.39331	0.2915141398365373	0.29064	0.576595669061	0.53609	0.768925786018	0.77263	T	0.05661	0.30337	T	-0.306654	0.08047	T	-0.226494	0.52111	T	0.0901944801441001	0.11241	T	0.516048	0.16641	T	0.46140903	0.64758	0.42805207	0.66531	0.46140903	0.64759	0.42805207	0.66531	-6.17	0.47679	T	.	.	0.123	0.25817	B	.	.	3.268076	0.44723	22.0	0.98035489070701054	0.37743	0.58911	0.30770	D	AEFDBHCI	0.074174	0.14859	N	-0.599732498340796	0.18952	0.988166	-0.52403908877498	0.21501	1.163434	0.999999075754366	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.81	1.8	0.24069	1.361000	0.33740	4.198000	0.42449	0.596000	0.33519	0.002000	0.15269	1.000000	0.68203	0.998000	0.85391	0.1612:0.7469:0.0:0.0919	7.836	0.28531	37	0.98026	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1236.83	38	chr16	30965757	.	C	T	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.086;DP=315;ExcessHet=0;FS=2.403;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.347;SOR=0.962	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1351	5	0	1	0
chr16	31078342	31078342	G	A	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G2018A:p.R673Q	.	.	.	.	.	.	.	.	.	.	.	2731422	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00497872659287	0.0002	.	0.0001	0.0005	0.0002	0	0	0.0001	0.0011	0	0.00011	17	154602	rs147667959	8.008e-05	8.003e-05	8.307e-05	7.705e-05	0.0015	6.804e-05	6.358e-05	0.0012	0.0011	0.0015	0.0002	0	0	3.782e-05	0.0005	3.598e-05	0.0002	2.319e-05	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	7.349e-05	0	0	0.228	0.18956	T	0.199	0.27943	T	0.196	0.29532	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.12	0.08106	T	-0.2	0.10136	N	0.096	0.07673	-0.9481	0.41296	T	0.012	0.04605	T	9	0.024490714	0.00675	T	0.004979	0.12566	T	0.016	0.02506	.	.	0.367803931526	0.36392	0.09046711706946438	0.08979	0.453145980313	0.45012	0.319879353046	0.13402	T	0.00978	0.08877	T	-0.609334	0.00128	T	-0.683421	0.06777	T	0.0190103105633233	0.00610	T	0.728327	0.34315	T	0.035558	0.04209	0.05919256	0.11068	0.035558	0.04208	0.05919256	0.11068	-5.654	0.43282	T	.	.	0.105	0.19357	B	.;.	.;.	2.422980	0.31160	18.66	0.99414762796085177	0.63453	0.26792	0.23094	N	AEFBHCI	0.059299	0.11191	N	-0.566906364431564	0.19957	1.048512	-0.440209906468838	0.23827	1.301471	0.995813248437294	0.34342	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.64	3.52	0.39415	0.970000	0.28980	.	.	0.676000	0.76740	0.675000	0.28393	0.996000	0.32793	0.809000	0.38129	0.0909:0.1559:0.7532:0.0	8.301	0.31175	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1152.83	33	chr16	31078342	.	G	A	1152.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.62;DP=271;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-1.509;SOR=0.438	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	5	0	1	0
chr16	31080387	31080387	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4063T:p.R1355W	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0110771603612	7.7e-05	.	0.0003	0	0.0021	0	0	7.677e-05	0	0.0001	0.0002329	36	154602	rs200795473	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0013	0.0012	0	0.0016	0	0	1.901e-05	0.0010	0.0003	0.0003	0.0002	7.875e-05	7.873e-05	7.707e-05	8.052e-05	0.0002	4.492e-05	3.508e-05	2.846e-05	1.858e-05	7.213e-05	0	0.0001	0	0	0	0	7.349e-05	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.517	0.37451	P	0.063	0.27082	B	.	.	.	.	1	0.08975	N	2.095	0.58118	M	2.95	0.09635	T	-1.94	0.45042	N	0.259	0.29313	-0.9926	0.31933	T	0.017	0.06807	T	9	0.019007504	0.00419	T	0.011077	0.28332	T	0.046	0.12618	.	.	0.514587094315	0.51101	0.36539140185632996	0.36453	0.766464379829	0.64535	0.510289311409	0.40263	T	0.091859	0.38883	T	-0.509863	0.00503	T	-0.51839	0.20458	T	0.092089266843435	0.11463	T	0.883212	0.60517	D	0.0581779	0.11674	0.06427366	0.12857	0.0581779	0.11673	0.06427366	0.12857	-7.089	0.54681	T	.	.	0.194	0.47005	B	.;.	.;.	2.938689	0.39066	20.9	0.99873842004282454	0.95076	0.45825	0.27624	N	AEFDBHCI	0.130391	0.24893	N	-0.171405448836957	0.34328	1.958102	-0.0909539969250169	0.35763	2.072948	0.999996706874999	0.74766	0.712529	0.81865	0	0.577304	0.33150	0	0.635938	0.45252	0	0.636168	0.56350	0	.	.	5.26	4.3	0.50540	-0.063000	0.11612	.	.	0.599000	0.40250	0.002000	0.15269	0.991000	0.31484	0.502000	0.29062	0.1833:0.6582:0.0:0.1585	4.795	0.12634	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	968.83	33	chr16	31080387	.	C	T	968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.079;SOR=0.61	GT:AD:DP:GQ:PL	0/1:54,38:92:99:979,0,1343	5	0	1	0
chr16	31085168	31085168	A	G	exonic	PRSS53	.	nonsynonymous SNV	PRSS53:NM_001039503:exon7:c.T976C:p.C326R	.	.	.	.	.	.	.	.	.	.	.	2731414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.777	0.220968821304	0.0004	0.000199681	0.0001	0.0010	0.0004	0	0	0	0.0015	0	8.41e-05	13	154602	rs199760254	6.308e-05	6.293e-05	6.137e-05	6.481e-05	0.0020	5.24e-05	4.857e-05	0.0016	0.0015	0.0020	0.0002	0	0	0	0.0005	9.003e-07	0.0002	1.169e-05	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0002	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	0.001267	0.39594	U	0.000000	1	0.81001	D	5.19	0.99953	H	-0.49	0.70365	T	-10.19	0.98914	D	0.94	0.94668	0.622	0.92185	D	0.670	0.88579	D	10	0.8107121	0.80359	D	0.220969	0.87783	D	0.777	0.92542	.	.	0.78844528883	0.78648	0.9382851228237187	0.93809	0.496641408072	0.48171	0.659983754158	0.61406	T	0.715013	0.91900	D	0.0589214	0.59477	T	0.29863	0.88134	D	0.627115726470947	0.37499	D	0.69663	0.30630	T	0.9905708	0.99793	0.9845733	0.99917	0.9905708	0.99793	0.9845733	0.99917	-12.89	0.88904	D	.	.	0.954	0.87360	P	.	.	4.740984	0.76452	26.5	0.99725302538714411	0.82336	0.82049	0.41338	D	AEFDGBCI	0.588195	0.58555	D	0.912064213064427	0.92338	11.36651	0.824323021054402	0.91431	10.88318	0.999999999924874	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.0	0.00061	3	0.664235	0.64389	0	.	.	5.75	5.75	0.90390	4.613000	0.60880	.	.	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	15.034	0.71397	41	0.97903	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1054.83	34	chr16	31085168	.	A	G	1054.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=250;ExcessHet=0;FS=0.993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=0.08;SOR=0.914	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr16	31111999	31111999	A	T	exonic	BCKDK	.	nonsynonymous SNV	BCKDK:NM_001271926:exon10:c.A976T:p.S326C,BCKDK:NM_001122957:exon11:c.A1066T:p.S356C,BCKDK:NM_005881:exon11:c.A1066T:p.S356C	Branched-chain ketoacid dehydrogenase kinase deficiency	8	1511	3	0	0	3	0.000991736	.	.	.	274071	not_specified|not_provided|Branched-chain_keto_acid_dehydrogenase_kinase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013970,MedGen:C3554078,OMIM:614923,Orphanet:308410	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.426	0.0747116067431	0.0005	0.000199681	0.0008	0.0002	0.0003	0	0	0.0012	0.0022	0.0001	0.0006533	101	154602	rs142542453	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0004	0.0006	0.0004	5.974e-05	0.0003	0.0085	0	0	0.0012	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0	0	0.0001	0.0069	0	0	0	0.0003	0.0009	0.0002	0.005	0.63226	D	0.027	0.63918	D	0.924	0.51285	P	0.649	0.52426	P	0.000000	0.84330	D	0.037237	0.999993	0.58761	D	2.015	0.55033	M	-1.06	0.76819	T	-2.07	0.47344	N	0.555	0.61849	-0.0735	0.80698	T	0.442	0.77971	T	10	0.011356086	0.00249	T	0.074712	0.72109	D	0.426	0.73372	.	.	0.896479097939	0.89545	0.6884335814607504	0.68783	1.22719861685	0.81235	0.550096213818	0.45871	T	0.67654	0.90456	D	-0.174176	0.24606	T	-0.131591	0.60837	T	0.0534810887414713	0.06101	T	0.80432	0.45191	T	0.25393322	0.48418	0.13844654	0.33064	0.25393322	0.48418	0.13844654	0.33063	-9.428	0.70411	D	.	.	0.114	0.22500	B	.;.;.;.	.;.;.;.	4.091254	0.60938	24.3	0.99057715325789397	0.51413	0.93268	0.57765	D	AEFDBCI	0.925403	0.90489	D	0.531804737097128	0.68982	5.292683	0.582641915179052	0.73694	6.012882	0.99999999998808	0.74766	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.574000	0.73903	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	1.0:0.0:0.0:0.0	14.863	0.70032	52	0.97609	Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1413.83	125	chr16	31111999	.	A	T	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.793;DP=306;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.621;SOR=0.573	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1497	5	0	1	0
chr16	31360327	31360327	C	T	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725T:p.A242V,ITGAX:NM_001286375:exon8:c.C725T:p.A242V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0288439097797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.856e-07	6.841e-07	1.364e-06	0	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23905	T	0.123	0.35582	T	0.088	0.25022	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	-1.74	0.83413	D	-1.27	0.31981	N	0.031	0.01740	-0.6974	0.60563	T	0.350	0.71383	T	9	0.09435028	0.16769	T	0.028844	0.51459	D	0.112	0.31546	0.409	0.44395	0.648717662934	0.64580	0.6046335867873865	0.60394	0.217283684552	0.24248	0.288068234921	0.08642	T	0.213551	0.57490	T	-0.0845231	0.38976	T	-0.359188	0.38146	T	0.0842277932490143	0.10519	T	0.150185	0.01264	T	0.14685659	0.33598	0.10920148	0.26316	0.14685659	0.33597	0.10920148	0.26316	-4.283	0.27938	T	.	.	0.106	0.21728	B	.;.	.;.	1.855993	0.23579	16.07	0.93623601435904025	0.23493	0.11361	0.16583	N	AEFDBI	0.094384	0.19085	N	-0.769014013508098	0.14123	0.7009479	-0.791100451075498	0.14713	0.7702154	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.97	36	chr16	31360327	.	C	T	37.97	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.359;DP=235;ExcessHet=0;FS=53.87;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.353;SOR=6.445	GT:AD:DP:GQ:PL	./.:49,0:49:0:0,0,814	2	0	1	3
chr16	31397403	31397403	C	T	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon3:c.C182T:p.T61M,ITGAD:NM_005353:exon3:c.C182T:p.T61M	.	.	.	.	.	.	.	.	.	.	.	2731411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0644059551667	0.0004	.	0.0002	0.0013	0.0007	0	0	3.09e-05	0.0024	0	9.06e-05	14	154602	rs150049273	0.0001	0.0001	0.0001	9.563e-05	0.0017	9.109e-05	8.588e-05	0.0014	0.0013	0.0017	0.0003	0	7.647e-05	0	0.0005	5.595e-05	0.0002	1.185e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	2.94e-05	0	0	0.026	0.46910	D	0.003	0.76473	D	1.0	0.90584	D	0.973	0.72923	D	.	.	.	.	0.971928	0.25628	N	2.17	0.60663	M	-0.73	0.73100	T	-4.95	0.81910	D	0.574	0.59648	-0.5621	0.66324	T	0.461	0.79072	T	9	0.2942811	0.47000	T	0.064406	0.69266	D	0.361	0.68141	.	.	0.895918747923	0.89489	0.6507145803554045	0.65007	0.745798275388	0.63508	0.519068598747	0.41495	T	0.556017	0.85052	D	-0.272639	0.11465	T	-0.204936	0.54179	T	0.146828974394759	0.16848	T	0.816218	0.47186	T	0.053059068	0.09985	0.12608671	0.30372	0.053059068	0.09985	0.12608671	0.30371	-9.471	0.70678	D	.	.	0.112	0.21766	B	.	.	2.983778	0.39815	21.0	0.99667224099404073	0.78330	0.30950	0.24214	N	AEFDBHI	0.105328	0.21049	N	0.123152281196761	0.47546	2.978662	-0.0639600536247437	0.36892	2.152881	0.176513929569706	0.17811	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.05	3.09	0.34677	2.348000	0.43701	.	.	0.599000	0.40250	0.275000	0.25094	0.898000	0.27928	0.013000	0.09966	0.0:0.8861:0.0:0.1139	8.088	0.29948	454	0.79125	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2110.83	34	chr16	31397403	.	C	T	2110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-1.013;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr16	31410795	31410795	C	T	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon12:c.C1273T:p.R425C,ITGAD:NM_005353:exon12:c.C1273T:p.R425C	.	.	.	.	.	.	.	.	.	.	.	2375951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.0990368747365	0.0011	0.000599042	0.0006	0.0017	0.0002	0	0	0.0007	0.0023	0.0002	0.0005304	82	154602	rs140839965	0.0003	0.0003	0.0003	0.0004	0.0030	0.0003	0.0003	0.0025	0.0023	0.0030	0.0003	0.0087	7.557e-05	0	0.0009	7.285e-05	0.0010	0.0001	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0019	0.0018	0.0023	0	0.0003	0.0072	0	0	0.0034	7.355e-05	0.0014	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.778696	0.29357	N	4.255	0.98070	H	0.99	0.41750	T	-7.47	0.94958	D	0.601	0.61933	-0.4076	0.71787	T	0.364	0.72522	T	9	0.03788528	0.02171	T	0.099037	0.77041	D	0.304	0.62510	.	.	0.714337202855	0.71183	0.7358299566986346	0.73527	0.861284270804	0.68974	0.469128668308	0.34560	T	0.787082	0.94432	D	-0.237916	0.15614	T	-0.121002	0.61720	T	0.140280835679578	0.16300	T	0.987701	0.95793	D	0.45774403	0.64530	0.4488945	0.67918	0.45774403	0.64531	0.4488945	0.67918	-11.816	0.83943	D	.	.	0.620	0.69682	P	.	.	4.948049	0.81718	27.6	0.99905392355110711	0.97651	0.25152	0.22612	N	AEFDBI	0.130970	0.24973	N	0.518303595156669	0.68174	5.180851	0.320528556967302	0.56746	3.838578	4.20349752453967E-5	0.03989	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.4	3.33	0.37245	0.481000	0.21969	.	.	0.524000	0.24156	0.002000	0.15269	0.986000	0.30841	0.722000	0.34836	0.1986:0.6907:0.0:0.1107	6.219	0.19883	426	0.81110	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	37	chr16	31410795	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=273;ExcessHet=0;FS=3.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.75;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	5	0	1	0
chr16	31476134	31476134	-	T	exonic	TGFB1I1	.	stopgain	TGFB1I1:NM_001042454:exon8:c.838dupT:p.E281*,TGFB1I1:NM_001164719:exon8:c.787dupT:p.E264*,TGFB1I1:NM_015927:exon8:c.787dupT:p.E264*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2399.01	34	chr16	31476134	.	C	CT	2399.01	.	AC=2;AF=0.167;AN=12;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.32;SOR=0.934	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	5	1	0	0
chr16	46581891	46581891	A	C	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon12:c.T1623G:p.I541M,SHCBP1:NM_001324318:exon13:c.T1743G:p.I581M,SHCBP1:NM_024745:exon13:c.T1857G:p.I619M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00307378671563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.063	0.45110	T	0.011	0.15914	B	0.002	0.06944	B	0.005669	0.32605	N	0.323109	0.999823	0.20203	N	0	0.06538	N	1.94	0.22678	T	-0.26	0.11185	N	0.027	0.00571	-1.0316	0.19937	T	0.021	0.08639	T	10	0.040402383	0.02606	T	0.003074	0.06636	T	0.048	0.13305	0.263	0.20788	0.149567049428	0.14543	0.2709577035621232	0.27008	0.269835438501	0.29508	0.496988385916	0.38408	T	0.021522	0.16743	T	-0.314765	0.07336	T	-0.689914	0.06394	T	0.0610214699037522	0.07329	T	0.613939	0.23413	T	0.08387657	0.19387	0.07754071	0.17283	0.08387657	0.19387	0.07754071	0.17283	-3.689	0.19156	T	.	.	0.063	0.01408	B	.	.	1.176853	0.15667	12.02	0.97859045179235604	0.36452	0.24375	0.22374	N	AEFDBI	0.061132	0.11665	N	-0.687102172518043	0.16388	0.8345195	-0.583368069212289	0.19927	1.071319	0.115866995803127	0.16765	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.06	0.026	0.13469	-0.181000	0.09734	0.189000	0.15722	0.631000	0.51895	0.351000	0.25767	0.309000	0.24262	0.990000	0.65344	0.4801:0.3291:0.082:0.1087	3.751	0.08090	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1679.83	133	chr16	46581891	.	A	C	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=314;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.659;SOR=0.594	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	5	0	1	0
chr16	47260633	47260633	C	A	exonic	ITFG1	.	nonsynonymous SNV	ITFG1:NM_001305002:exon11:c.G794T:p.R265L,ITFG1:NM_030790:exon11:c.G1133T:p.R378L	.	432	1087	3	0	0	3	0.00137804	.	.	.	3271606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.0966153509702	0.0008	.	0.0005	0.0002	0	0	0	0.0009	0.0033	6.056e-05	0.0005951	92	154602	rs118116323	0.0015	0.0015	0.0015	0.0015	0.0019	0.0015	0.0014	0.0018	0.0018	0.0002	0.0002	0	0	0.0001	0.0002	0.0019	0.0009	0.0002	0.0008	0.0008	0.0011	0.0006	0.0016	0.0007	0.0007	0.0014	0.0013	0.0002	0	0.0002	0	0	0.0003	0	0.0016	0.0009	0.0002	0.247	0.17296	T	0.271	0.22291	T	0.028	0.22331	B	0.035	0.22741	B	0.002756	0.36001	N	0.272209	1	0.08975	N	1.625	0.41611	L	-0.97	0.75670	T	-2.06	0.50502	N	0.36	0.40164	-0.9306	0.44051	T	0.216	0.57732	T	10	0.04428017	0.03367	T	0.096615	0.76633	D	0.110	0.31079	.	.	0.0934897674506	0.08844	0.6385794070759927	0.63791	0.499857624809	0.48406	0.230907797813	0.02036	T	0.069539	0.33736	T	-0.415564	0.01827	T	-0.375872	0.36204	T	0.0139352195771068	0.00266	T	0.861114	0.55479	D	0.07517792	0.16919	0.056009367	0.09928	0.07517792	0.16918	0.056009367	0.09928	-7.045	0.54361	T	.	.	0.119	0.27791	B	.;.	.;.	1.236712	0.16323	12.46	0.97943362655611743	0.37050	0.22189	0.21662	N	AEFDBIJ	0.431693	0.49388	N	-1.03841577857603	0.07817	0.3644209	-1.01952049434552	0.09356	0.4650124	4.71871788071996E-4	0.07095	0.719381	0.83141	0	0.723133	0.82719	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.21	-0.15	0.12759	0.521000	0.22601	0.132000	0.15059	-1.070000	0.01595	0.115000	0.23085	0.014000	0.20376	0.044000	0.14658	0.0:0.4391:0.0:0.5609	8.529	0.32485	311	0.87433	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1331.83	38	chr16	47260633	.	C	A	1331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=276;ExcessHet=0;FS=3.81;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.814;SOR=0.406	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	5	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	119.83	153	chr16	50669118	.	A	G	119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.072;DP=498;ExcessHet=0;FS=210.868;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=1.08;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1456:.	5	0	1	0
chr16	55528447	55528447	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon3:c.G382A:p.V128I	.	433	1037	48	4	0	56	0.0262911	.	.	.	703739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0078	0.00559105	0.0077	0.0017	0.0052	0	0.0012	0.0093	0.0100	0.0128	0.0074773	1156	154602	rs61739979	0.0068	0.0068	0.0065	0.0071	0.0373	0.0067	0.0067	0.0332	0.0316	0.0018	0.0060	0.0275	5.041e-05	0.0010	0.0373	0.0064	0.0087	0.0122	0.0054	0.0054	0.0056	0.0053	0.0133	0.0051	0.0050	0.0106	0.0097	0.0013	0	0.0060	0.0265	0.0004	0.0014	0.0272	0.0069	0.0128	0.0133	0.144	0.25255	T	0.208	0.26883	T	0.837	0.46346	P	0.677	0.53365	P	0.000007	0.62929	D	0.106957	1	0.81001	D	1.915	0.51223	L	-3.06	0.92457	D	-0.74	0.20791	N	0.209	0.23253	0.373	0.88694	D	0.712	0.90112	D	10	0.009516329	0.00215	T	.	.	.	0.468	0.76289	.	.	0.883007314517	0.88186	0.4636391809396324	0.46282	0.642191404682	0.57793	0.374768316746	0.21513	T	0.021343	0.16634	T	-0.275501	0.11150	T	-0.158127	0.58521	T	0.0584089146062056	0.06916	T	0.843516	0.52087	T	0.21427143	0.43828	0.2297524	0.48057	0.2164344	0.44102	0.2297524	0.48056	-6.495	0.50248	T	.	.	0.082	0.08851	B	.	.	2.957763	0.39377	20.9	0.99756614939052335	0.84694	0.97969	0.78517	D	AEFBI	0.586403	0.58446	D	0.408504751708759	0.61889	4.39626	0.431893225924825	0.63564	4.592506	0.999999999454702	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.8	5.8	0.92081	5.616000	0.67389	3.029000	0.36034	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.929000	0.46594	0.0:0.0:1.0:0.0	20.055	0.97648	802	0.44336	Phospholipid/glycerol acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.037764	0.030303	0.040761	0.058480	0.000000	0.034483	0.021341	0.026515	0.08333	1523.83	33	chr16	55528447	.	G	A	1523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.243;DP=341;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.308;SOR=0.79	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr16	55579140	55579140	C	T	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon13:c.C1346T:p.T449M	.	431	1073	18	0	0	18	0.00831793	.	.	.	703740	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0018	0.00419329	0.0046	0.0009	0.0006	0.0001	0.0021	0.0021	0.0066	0.0228	0.004062	628	154602	rs142090669	0.0030	0.0030	0.0024	0.0035	0.0218	0.0029	0.0028	0.0210	0.0207	0.0005	0.0005	7.661e-05	5.041e-05	0.0027	0.0042	0.0019	0.0027	0.0218	0.0020	0.0020	0.0017	0.0023	0.0207	0.0018	0.0017	0.0174	0.0162	0.0006	0.0154	0.0007	0.0003	0.0002	0.0027	0	0.0018	0.0009	0.0207	0.015	0.52492	D	0.057	0.46406	T	1.0	0.90584	D	0.961	0.70482	D	0.000010	0.62929	D	0.147653	0.999977	0.53665	D	3.305	0.90531	M	-0.87	0.74583	T	-4.2	0.75695	D	0.569	0.59223	0.184	0.85644	D	0.589	0.85259	D	10	0.0116019845	0.00253	T	.	.	.	0.468	0.76289	.	.	0.922837085168	0.92205	0.7793051951255054	0.77881	0.165698584947	0.18694	0.436629772186	0.30117	T	0.493218	0.81686	T	-0.310669	0.07690	T	-0.201446	0.54509	T	0.0560204852337205	0.06528	T	0.870213	0.57527	D	0.16128945	0.36128	0.18174815	0.41058	0.15628661	0.35276	0.20300868	0.44356	-12.067	0.85175	D	.	.	0.162	0.35684	B	.	.	4.489201	0.70109	25.5	0.99849907891515421	0.92925	0.88001	0.47743	D	AEFBI	0.163918	0.29025	N	0.469130523414809	0.65298	4.804742	0.321415147242058	0.56801	3.84396	0.999919419600057	0.45857	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.62	3.63	0.40741	2.835000	0.47876	3.300000	0.37375	0.596000	0.33519	0.985000	0.35982	0.998000	0.33993	0.978000	0.57271	0.0:0.7824:0.1419:0.0757	9.593	0.38724	694	0.58444	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.018939	0.08333	639.83	34	chr16	55579140	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=234;ExcessHet=0;FS=2.211;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.017;SOR=1.044	GT:AD:DP:GQ:PL	0/1:34,27:61:99:650,0,761	5	0	1	0
chr16	55810959	55810959	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1135G:p.M379V,CES1:NM_001025195:exon10:c.A1138G:p.M380V,CES1:NM_001266:exon10:c.A1132G:p.M378V	Carboxylesterase 1 deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00301823865943	0.0015	0.000599042	0.0009	0.0002	0.0016	0	0	0.0013	0	0	0.000925	143	154602	rs140704082	0.0011	0.0012	0.0011	0.0011	0.0027	0.0011	0.0011	0.0023	0.0021	0.0001	0.0027	0.0032	0	5.617e-05	0.0002	0.0012	0.0011	2.319e-05	0.0009	0.0009	0.0008	0.0010	0.0021	0.0008	0.0007	0.0015	0.0013	0.0002	0.0022	0.0021	0.0012	0	0	0	0.0013	0.0005	0	0.573	0.06125	T	0.288	0.21144	T	0.0	0.02946	B	0.001	0.04355	B	0.162873	0.03052	N	1.680650	1	0.08975	N	-0.035	0.05024	N	3.25	0.08810	T	-0.25	0.11008	N	0.215	0.25867	-0.9649	0.38230	T	0.009	0.03227	T	10	0.017832667	0.00383	T	0.003018	0.06487	T	0.016	0.02506	.	.	0.0551355673512	0.04727	0.34163695956160517	0.34076	0.0270787687763	0.02765	0.19772733748	0.00394	T	0.116562	0.43599	T	-0.763234	0.00014	T	-0.874347	0.00703	T	0.00351894971847399	0.00037	T	0.880112	0.59716	D	0.11659702	0.27498	0.12160358	0.29340	0.17650896	0.38566	0.102374114	0.24533	-3.211	0.12615	T	0.09313459077219707	0.06095	0.096	0.15341	B	.;.;.	.;.;.	-0.160413	0.03299	0.570	0.29192777450150564	0.01536	0.00874	0.03459	N	AEFBI	0.255024	0.37423	N	-1.47160035839418	0.02052	0.09023264	-1.51686164109198	0.02214	0.1014967	0.0883237726342526	0.16057	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.61	-5.24	0.02576	-2.043000	0.01500	-4.441000	0.02155	0.643000	0.52288	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.4133:0.3331:0.0:0.2537	3.929	0.08774	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1640.83	35	chr16	55810959	.	T	C	1640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.48;DP=301;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.302;SOR=0.934	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,116,1800	5	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.1667	2892.06	35	chr16	55810997	.	T	C	2892.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=772;ExcessHet=0.4139;FS=0.584;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=0.161;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,116,1800:.	4	0	2	0
chr16	55849715	55849715	G	T	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon11:c.C1332A:p.D444E,CES5A:NM_001190158:exon12:c.C1419A:p.D473E	.	431	1074	15	2	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0267763963323	0.0003	0.000798722	0.0011	0.0004	0.0026	0	0	0.0012	0.0022	0.0011	0.0010543	163	154602	rs181438833	0.0009	0.0009	0.0009	0.0010	0.0376	0.0009	0.0009	0.0335	0.0319	0.0007	0.0039	0.0005	5.038e-05	3.746e-05	0.0376	0.0006	0.0022	0.0009	0.0010	0.0010	0.0009	0.0012	0.0019	0.0009	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0003	0	0	0.0748	0.0011	0.0057	0.0008	0.125	0.28395	T	0.136	0.42794	T	0.856	0.47190	P	0.492	0.47401	P	0.085412	0.20643	N	0.413513	1	0.08975	N	1.65	0.42232	L	-0.21	0.66294	T	-2.02	0.51157	N	0.268	0.37509	-0.9206	0.45472	T	0.198	0.55272	T	10	0.0059216022	0.00133	T	0.026776	0.49657	D	0.109	0.30843	0.397	0.42426	0.0482279557977	0.04254	0.10762139173764923	0.10691	0.191555154566	0.21486	0.344490289688	0.17107	T	0.100386	0.67485	T	-0.445695	0.01197	T	-0.414143	0.31748	T	0.0392730489088655	0.03559	T	0.564644	0.20837	T	0.05933704	0.12046	0.07330105	0.15914	0.05933704	0.12046	0.07330105	0.15914	-3.494	0.19082	T	.	.	0.167	0.39477	B	.;.;.;.;.	.;.;.;.;.	2.649325	0.34491	19.64	0.99206065601331617	0.55442	0.06738	0.12760	N	AEFDBI	0.075762	0.15222	N	-0.274428242612552	0.30139	1.677769	-0.378485646956165	0.25640	1.411247	3.83341854043478E-4	0.06781	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.18	0.35615	0.061000	0.14242	0.595000	0.19862	0.676000	0.76740	0.000000	0.06391	0.060000	0.22018	0.962000	0.52141	0.184:0.0:0.6341:0.1819	4.286	0.10302	929	0.16858	.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.050505	0.031250	0.067251	0.000000	0.060345	0.012195	0.003788	0.08333	835.83	34	chr16	55849715	.	G	T	835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.452;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.23;SOR=0.74	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1406	5	0	1	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P,CES5A:NM_145024:exon10:c.G1262C:p.R421P,CES5A:NM_001190158:exon11:c.G1349C:p.R450P	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	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	0.033300	0.050505	0.031250	0.067251	0.000000	0.051724	0.009202	0.003817	0.08333	764.83	37	chr16	55852892	.	C	G	764.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.565;DP=253;ExcessHet=0;FS=1.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.65;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	5	0	1	0
chr16	55853015	55853015	T	C	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.A1139G:p.Q380R,CES5A:NM_145024:exon10:c.A1139G:p.Q380R,CES5A:NM_001190158:exon11:c.A1226G:p.Q409R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0575065800009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868386266	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.013	0.64786	D	0.666	0.41149	P	0.23	0.42984	B	0.054845	0.22690	N	0.224660	1	0.08975	N	0.38	0.12130	N	-0.21	0.66294	T	-2.07	0.47344	N	0.41	0.45426	-0.8594	0.51305	T	0.212	0.57227	T	10	0.209889	0.37366	T	0.057507	0.66989	D	0.168	0.42943	0.526	0.63115	0.154104182512	0.14974	0.3231323523380862	0.32226	0.123196650637	0.13880	0.313357919455	0.12414	T	0.075974	0.51738	T	-0.13667	0.30423	T	-0.434094	0.29473	T	0.434397866260253	0.30223	T	0.779322	0.43681	T	0.21928777	0.44457	0.24947563	0.50519	0.21928777	0.44457	0.24947563	0.50518	-4.621	0.33944	T	.	.	0.085	0.13174	B	.;.;.;.;.;.	.;.;.;.;.;.	1.912637	0.24293	16.34	0.98254627986512655	0.39603	0.20592	0.21098	N	AEFGBI	0.121651	0.23642	N	-0.414998366272966	0.24944	1.350458	-0.478691081701161	0.22741	1.236722	0.00240799556031544	0.09398	0.487112	0.14033	0	0.55458	0.17659	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	5.41	4.29	0.50359	2.433000	0.44451	1.024000	0.23428	0.665000	0.62972	0.049000	0.21372	0.002000	0.18203	0.040000	0.14268	0.0:0.0:0.1617:0.8383	10.617	0.44644	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	644.83	37	chr16	55853015	.	T	C	644.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.41;DP=243;ExcessHet=0;FS=7.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.387;SOR=0.228	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	5	0	1	0
chr16	56474894	56474894	A	G	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.A1238G:p.H413R,OGFOD1:NM_001324357:exon11:c.A1349G:p.H450R,OGFOD1:NM_001324358:exon11:c.A1187G:p.H396R,OGFOD1:NM_001324359:exon11:c.A1061G:p.H354R,OGFOD1:NM_001324360:exon11:c.A1061G:p.H354R,OGFOD1:NM_001324361:exon11:c.A1187G:p.H396R,OGFOD1:NM_001324362:exon11:c.A932G:p.H311R,OGFOD1:NM_018233:exon11:c.A1352G:p.H451R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0168776904753	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746312312	6.843e-07	6.841e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.33418	T	0.078	0.42261	T	0.883	0.48537	P	0.601	0.50808	P	0.000000	0.84330	D	0.041854	1	0.81001	D	2.725	0.79712	M	0.85	0.48142	T	-4.53	0.78388	D	0.798	0.79406	-0.6622	0.62179	T	0.251	0.62096	T	9	0.81690586	0.80922	D	0.016878	0.38341	T	.	.	0.821	0.93395	0.676204940702	0.67346	0.7654095052582354	0.76489	0.253375711592	0.27906	0.636112093925	0.58012	T	0.168455	0.51546	T	0.010142	0.53044	T	-0.0540799	0.66744	D	0.692892491280212	0.40382	D	0.663534	0.27241	T	0.5749597	0.71333	0.64010185	0.78975	0.5749597	0.71334	0.64010185	0.78976	-8.395	0.63732	D	.	.	0.171	0.45738	B	.;.	.;.	4.272645	0.65018	24.8	0.99693557382838893	0.80112	0.99278	0.93852	D	AEFBI	0.892476	0.82943	D	0.60382559732634	0.73416	5.962595	0.658657757171752	0.79258	7.044327	0.999999941706811	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	8.312000	0.89895	11.276000	0.91569	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	16.545	0.84275	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation 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	.	.	.	.	.	.	.	.	0.08333	708.83	37	chr16	56474894	.	A	G	708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.706;DP=250;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-2.644;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	5	0	1	0
chr16	56626498	56626498	T	A	exonic	MT1E	.	nonsynonymous SNV	MT1E:NM_001363555:exon2:c.T61A:p.C21S,MT1E:NM_175617:exon2:c.T61A:p.C21S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	0.0002	0.00339457	0.0033	9.628e-05	0.0012	0.0001	0	0.0003	0.0011	0.0222	0.0028331	438	154602	rs138690474	0.0015	0.0015	0.0009	0.0021	0.0201	0.0014	0.0014	0.0193	0.0190	0.0001	0.0010	0.0007	2.519e-05	0	0.0045	0.0002	0.0016	0.0201	0.0006	0.0006	0.0003	0.0010	0.0137	0.0005	0.0005	0.0110	0.0101	4.811e-05	0	0.0008	0.0006	0.0004	0	0	0.0002	0	0.0137	0.027	0.91255	D	0.079	0.60972	T	0.975	0.77913	D	0.937	0.75477	D	0.000001	0.62929	U	0.000000	0.999999	0.81001	D	.	.	.	2.56	0.13673	T	-8.77	0.98823	D	0.76	0.75834	-1.0913	0.05319	T	0.081	0.31972	T	9	0.006744832	0.00153	T	.	.	.	0.227	0.52620	0.619	0.75347	0.102598925029	0.09809	0.5861247793983562	0.58542	0.440458745318	0.44055	0.398714601994	0.24889	T	0.341125	0.71006	T	-0.395493	0.02478	T	-0.323955	0.42138	T	0.134673288983119	0.15807	T	0.777622	0.81072	T	0.6333387	0.74476	0.5622324	0.74668	0.6333387	0.74477	0.5622324	0.74669	-11.293	0.81240	D	.	.	0.644	0.76860	P	.;.	.;.	3.615058	0.51130	23.0	0.99146362494053941	0.53682	0.84229	0.43312	D	AEFBHCI	0.905708	0.85757	D	0.210901993531115	0.51727	3.351682	0.0742076914678449	0.43257	2.631176	0.999999846499509	0.74766	0.542737	0.22433	0	0.609123	0.50646	0	0.503968	0.08637	0	0.638787	0.57140	0	.	.	2.43	2.43	0.28797	4.546000	0.60415	2.922000	0.35569	0.502000	0.22824	0.993000	0.37899	0.999000	0.35428	0.984000	0.60418	0.0:0.0:0.0:1.0	8.310	0.31226	854	0.34840	Metallothionein, vertebrate, metal binding site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002114	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	2568.83	42	chr16	56626498	.	T	A	2568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=378;ExcessHet=0;FS=1.156;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.41;SOR=0.735	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	5	0	1	0
chr16	56890342	56890342	T	C	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon19:c.T2354C:p.M785T,SLC12A3:NM_001126107:exon19:c.T2351C:p.M784T,SLC12A3:NM_001126108:exon19:c.T2354C:p.M785T	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0549004121907	.	.	8.245e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs772274332	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.486	0.10838	T	0.353	0.17320	T	0.0	0.02946	B	0.0	0.01387	B	0.372546	0.13505	N	0.726383	1	0.08975	N	-0.805	0.01590	N	-3.23	0.93414	D	-0.52	0.16187	N	0.245	0.27673	-0.5449	0.66978	T	0.484	0.80301	T	10	0.08454341	0.14181	T	0.055	0.66033	D	0.255	0.56562	0.411	0.44723	0.395143324098	0.39128	0.4225298337756268	0.42169	0.100496245403	0.11355	0.355583757162	0.18741	T	0.262628	0.63422	T	-0.114218	0.34071	T	-0.401843	0.33171	T	0.0202552918344736	0.00725	T	0.249275	0.08000	T	0.04576515	0.07548	0.08157727	0.18549	0.04576515	0.07548	0.08157727	0.18548	-4.843	0.35532	T	0.08347476118864898	0.04511	0.105	0.20896	B	.;.;.;.	.;.;.;.	1.000964	0.13794	10.34	0.45170092102801562	0.03526	0.11856	0.16905	N	AEFDBI	0.123844	0.23964	N	-0.904077611692608	0.10745	0.5150473	-0.783865484662216	0.14890	0.780397	0.0715561454905268	0.15571	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	3.16	0.35406	0.637000	0.24348	0.488000	0.18872	0.665000	0.62972	0.047000	0.21291	0.999000	0.35428	0.457000	0.28051	0.0:0.1009:0.0:0.8991	9.763	0.39713	599	0.68140	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	978.83	66	chr16	56890342	.	T	C	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.8;DP=243;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.103;SOR=0.357	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1258	5	0	1	0
chr16	57451045	57451045	C	G	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon2:c.C79G:p.R27G	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	2	1463	55	2	0	59	0.0197655	.	.	.	211720	COQ9-related_disorder|not_provided|Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome	.|MedGen:C3661900|MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0005	0.000998403	0.0024	0.0002	0.0026	0	0	0.0013	0.0057	0.0105	0.0020246	313	154602	rs140264612	0.0013	0.0013	0.0010	0.0017	0.0197	0.0013	0.0013	0.0167	0.0156	0.0005	0.0019	0.0039	7.557e-05	0	0.0197	0.0006	0.0018	0.0104	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	9.632e-05	0	0.0006	0.0035	0	0	0.0272	0.0008	0.0038	0.0087	0.014	0.59928	D	0.055	0.57104	T	0.418	0.35279	B	0.065	0.27321	B	0.810299	0.09256	N	0.918676	0.999131	0.21587	N	2.175	0.60977	M	.	.	.	-2.57	0.84742	D	0.537	0.58968	-1.0003	0.29831	T	0.082	0.32207	T	9	0.00896737	0.00203	T	.	.	.	0.132	0.35948	.	.	0.387689773709	0.38380	0.4378721019580951	0.43704	0.259252817373	0.28482	0.535011053085	0.43740	T	0.070879	0.39639	T	-0.344015	0.05115	T	-0.258968	0.48927	T	0.0228780761383594	0.01010	T	0.831017	0.49766	T	0.15947412	0.35821	0.13199598	0.31684	0.1836086	0.39636	0.15318273	0.36006	-3.83	0.21253	T	.	.	0.069	0.12132	B	.;.;.;.;.;.	.;.;.;.;.;.	1.464020	0.18867	13.97	0.98290489573241691	0.39945	0.11866	0.16912	N	AEFBI	0.179999	0.30729	N	-0.324439954419346	0.28222	1.554889	-0.376808982927053	0.25690	1.414323	0.747359427171746	0.23305	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	0.861	0.18186	-0.036000	0.12136	-0.108000	0.11862	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.735000	0.35267	0.2708:0.4678:0.0:0.2613	3.775	0.08177	683	0.59664	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.017663	0.005848	0.000000	0.017241	0.012195	0.011364	0.08333	486.83	33	chr16	57451045	.	C	G	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=214;ExcessHet=0;FS=11.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.434;SOR=2.514	GT:AD:DP:GQ:PL	0/1:15,20:35:99:497,0,367	5	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	623.27	34	chr16	57813723	.	T	*	623.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.512;DP=283;ExcessHet=1.383;FS=3.618;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=1.13;SOR=0.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1169:.	4	0	2	0
chr16	58286046	58286046	G	A	exonic	PRSS54	.	nonsynonymous SNV	PRSS54:NM_001305174:exon4:c.C116T:p.A39V,PRSS54:NM_001080492:exon5:c.C413T:p.A138V,PRSS54:NM_001305173:exon5:c.C413T:p.A138V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0293956057367	7.7e-05	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs149972398	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	3.826e-05	0.0001	0	0.0016	0.0001	0.0003	0.0003	6.566e-05	6.562e-05	7.708e-05	5.372e-05	0.0001	3.514e-05	2.614e-05	6.804e-05	5.087e-05	0	0	6.539e-05	0	0	0	0	0.0001	0	0	0.028	0.51853	D	0.0	0.92824	D	1.0	0.90584	D	0.908	0.64494	P	0.072678	0.21394	N	0.437819	1	0.08975	N	2.47	0.71715	M	0.23	0.59717	T	-2.28	0.52776	N	0.341	0.38232	-0.6808	0.61335	T	0.328	0.69581	T	10	0.1095196	0.20433	T	0.029396	0.51914	D	0.279	0.59619	.	.	0.811149560326	0.80938	0.4470429636720386	0.44622	0.582402522763	0.53999	0.344212532043	0.17066	T	0.295808	0.82647	T	-0.237633	0.15653	T	-0.314692	0.43153	T	0.0754743612611495	0.09398	T	0.747925	0.37414	T	0.26042855	0.49099	0.31217146	0.57220	0.26042855	0.49099	0.31217146	0.57219	-5.304	0.39983	T	.	.	0.159	0.42141	B	.;.;.;.;.	.;.;.;.;.	3.002994	0.40130	21.1	0.99569628533922661	0.72318	0.08845	0.14713	N	AEFDGBI	0.117143	0.22962	N	-0.13467665108666	0.35889	2.067235	-0.306003962076281	0.27905	1.551775	0.00927490456051667	0.11826	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.5	3.47	0.38831	2.168000	0.42051	2.433000	0.32739	-0.201000	0.08892	0.032000	0.20554	0.272000	0.24054	0.768000	0.36443	0.0:0.0:0.634:0.366	11.033	0.47004	759	0.50631	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1379.83	38	chr16	58286046	.	G	A	1379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=294;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=2.6;SOR=0.614	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr16	66730161	66730161	T	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon7:c.A761T:p.K254M,DYNC1LI2:NM_001323955:exon7:c.A875T:p.K292M,DYNC1LI2:NM_006141:exon8:c.A992T:p.K331M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0282953865049	.	.	3.303e-05	0	0	0	0	6.005e-05	0	0	2.59e-05	4	154602	rs754383868	1.779e-05	1.779e-05	1.634e-05	1.925e-05	2.987e-05	1.237e-05	1.051e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0003	0	0	0	1.259e-05	4.968e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.009	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000002	0.62929	D	0.133902	0.999954	0.81001	D	2.26	0.64354	M	1.76	0.25996	T	-4.22	0.76254	D	0.446	0.50418	-0.7767	0.56487	T	0.170	0.51149	T	10	0.30259448	0.47795	T	0.028295	0.50995	D	0.282	0.59981	.	.	0.311241185304	0.30733	0.6177725307688289	0.61710	1.56040649893	0.88029	0.646061718464	0.59425	T	0.155432	0.49716	T	-0.0986371	0.36653	T	-0.315816	0.43031	T	0.907461643218994	0.56176	D	0.948405	0.89869	D	0.48950958	0.66473	0.36006206	0.61455	0.48950958	0.66474	0.36006206	0.61454	-11.836	0.84042	D	.	.	0.342	0.62975	A	.;.;.	.;.;.	4.821418	0.78539	26.9	0.9965353980043502	0.77442	0.92173	0.55108	D	AEFBCI	0.605022	0.59589	D	0.686584917617797	0.78753	6.935625	0.647724898944666	0.78442	6.87697	0.999995680105314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	4.065000	0.57229	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.219	0.72990	180	0.92993	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	403.83	35	chr16	66730161	.	T	A	403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.063;DP=233;ExcessHet=0;FS=1.108;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-0.325;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	5	0	1	0
chr16	67282630	67282630	G	A	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon8:c.G1138A:p.G380R,PLEKHG4:NM_001129728:exon10:c.G1381A:p.G461R,PLEKHG4:NM_001129729:exon10:c.G1381A:p.G461R,PLEKHG4:NM_001129727:exon11:c.G1381A:p.G461R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00399550245049	7.7e-05	0.000399361	0.0006	0	0	0.0012	0.0002	0.0009	0	0	0.0005175	80	154602	rs193198236	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	2.236e-05	3.826e-05	0.0006	0.0002	0.0002	0.0002	0.0004	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	2.405e-05	0	0	0	0.0008	0.0003	0	0.0003	0	0	0.544	0.06713	T	0.238	0.24549	T	0.002	0.11197	B	0.001	0.06944	B	0.474660	0.04946	N	1.426990	1	0.08975	N	0.205	0.09354	N	3.08	0.08460	T	-1.66	0.39692	N	0.125	0.16308	-1.0229	0.22769	T	0.019	0.08033	T	10	0.010940433	0.00241	T	0.003996	0.09462	T	0.057	0.16321	0.294	0.25720	0.314417295294	0.31040	0.31435362083048535	0.31348	0.310774122975	0.33387	0.231708735228	0.02097	T	0.044618	0.26872	T	-0.670469	0.00055	T	-0.786299	0.02268	T	0.0180221467409759	0.00526	T	0.626037	0.24205	T	0.050289325	0.09062	0.071095616	0.15182	0.050289325	0.09061	0.071095616	0.15181	-1.71	0.04060	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	-0.669307	0.01394	0.081	0.61903570999372792	0.06826	0.01179	0.04229	N	AEFDBI	0.040483	0.06028	N	-1.6673685925893	0.00964	0.04177623	-1.78339400991583	0.00814	0.03632868	0.999999994994447	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.93	-9.62	0.00458	-1.741000	0.01936	-1.104000	0.06319	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7908:0.0:0.2092:0.0	18.249	0.89934	23	0.98420	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2118.83	37	chr16	67282630	.	G	A	2118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.876;DP=421;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.598;SOR=0.733	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1276	5	0	1	0
chr16	67660199	67660199	C	T	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon1:c.G22A:p.V8I,ACD:NM_022914:exon1:c.G22A:p.V8I	.	384	1125	12	1	0	14	0.00618375	.	.	.	429837	Dyskeratosis_congenita,_autosomal_dominant_6|not_provided|ACD-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	.	0.0007	0.000998403	0.0008	0.0006	0.0012	0	0	0.0010	0.0059	0.0005	0.000718	111	154602	rs149365469	0.0006	0.0006	0.0005	0.0006	0.0290	0.0005	0.0005	0.0254	0.0240	0.0007	0.0011	0.0020	0	0	0.0290	0.0004	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0018	0.0005	0.0005	0.0012	0.0011	0.0005	0	0.0018	0.0009	0	0	0.0374	0.0004	0.0028	0.0006	.	.	.	0.031	0.53788	D	0.355	0.33731	B	0.073	0.28123	B	0.053064	0.22840	N	0.313336	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.088	0.16028	-1.0467	0.15332	T	0.045	0.19194	T	10	0.009870857	0.00221	T	.	.	.	0.019	0.03383	.	.	0.146414634003	0.14194	0.09386438995845912	0.09318	0.139486507341	0.15724	0.479659438133	0.36009	T	0.229699	0.59558	T	-0.575093	0.00206	T	-0.649298	0.09002	T	0.0149048827742313	0.00317	T	0.672333	0.28093	T	0.12558973	0.29437	0.1416343	0.33721	0.17041984	0.37615	0.14991881	0.35377	.	.	.	0.3533138073722568	0.45034	0.138	0.35870	B	.;.;.;.;.;.	.;.;.;.;.;.	1.979646	0.25148	16.66	0.98905138345194532	0.48272	0.13423	0.17847	N	ALL	0.101833	0.20442	N	-0.641788692678365	0.17700	0.9130168	-0.68079355440786	0.17441	0.9274243	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.47	0.38831	0.057000	0.14157	2.200000	0.31279	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.185000	0.21450	0.0:0.8751:0.0:0.1249	7.470	0.26514	42	0.97857	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.030303	0.013624	0.061404	0.000000	0.043103	0.000000	0.003788	0.08333	984.83	78	chr16	67660199	.	C	T	984.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.241;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.681;SOR=0.728	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1186	5	0	1	0
chr16	67930041	67930041	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G688A:p.G230S	.	429	1086	7	0	0	7	0.00321248	.	.	.	2224657	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.801	0.273810103382	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0011	0.000194	30	154602	rs774504385	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0002	0.0003	0	0	0.0012	9.712e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.723e-05	0.0002	8.996e-05	2.415e-05	0	0	0.0009	0	0	0.0032	0.0002	0.0014	0.0006	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.000776	0.41888	D	0.239350	1	0.81001	D	4.59	0.99231	H	-6.1	0.99525	D	.	.	.	0.64	0.65245	0.679	0.92908	D	0.710	0.90042	D	9	0.65592897	0.69873	D	0.27381	0.89979	D	.	.	.	.	0.994736968977	0.99468	0.8379203363834064	0.83752	0.530354471859	0.50573	0.468298435211	0.34447	T	0.791234	0.97718	D	0.257047	0.79256	D	0.561076	0.95963	D	0.374970080933562	0.27989	T	0.987301	0.95681	D	0.728	0.79633	0.70734966	0.82744	0.728	0.79635	0.70734966	0.82745	-11.72	0.83461	D	.	.	0.901	0.82802	P	.;.	.;.	4.394928	0.67856	25.2	0.99874558226117893	0.95160	0.96662	0.70275	D	AEFBCI	0.699623	0.65691	D	0.84156867909473	0.88622	9.648298	0.701370077494279	0.82483	7.778139	0.999999999999999	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	6.176000	0.71885	2.748000	0.34514	0.549000	0.26987	1.000000	0.71638	0.980000	0.30356	0.855000	0.40485	0.0:1.0:0.0:0.0	19.920	0.97085	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1178.83	34	chr16	67930041	.	C	T	1178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.856;DP=262;ExcessHet=0;FS=1.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.9;SOR=0.491	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,100,1518	5	0	1	0
chr16	67945400	67945400	C	A	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon21:c.G3007T:p.D1003Y,SLC12A4:NM_001145961:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145963:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145964:exon22:c.G2908T:p.D970Y,SLC12A4:NM_005072:exon22:c.G3001T:p.D1001Y	.	429	1087	6	0	0	6	0.00275229	.	.	.	2761258	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.021660994623	.	.	0.0002	0	0.0002	0	0	6.016e-05	0	0.0008	0.0001229	19	154602	rs751326359	9.989e-05	9.987e-05	5.446e-05	0.0001	0.0010	8.647e-05	8.135e-05	0.0008	0.0008	2.987e-05	4.474e-05	0.0003	0	0	0.0010	3.148e-05	0.0001	0.0010	8.541e-05	8.536e-05	6.423e-05	0.0001	0.0006	4.957e-05	3.962e-05	0.0002	8.985e-05	2.412e-05	0	0	0.0009	0	0	0	5.88e-05	0.0010	0.0006	0.004	0.68238	D	0.007	0.69154	D	0.04	0.23728	B	0.105	0.31087	B	0.000748	0.42006	D	0.237792	0.999398	0.81001	D	0	0.06538	N	0.96	0.42888	T	-2.28	0.50830	N	0.368	0.43803	-0.9896	0.32702	T	0.078	0.31193	T	10	0.07414466	0.11295	T	0.021661	0.44458	T	0.082	0.23913	.	.	0.570232391912	0.56690	0.32774334912053904	0.32687	0.605868047758	0.55455	0.477193027735	0.35670	T	0.416865	0.76969	T	-0.379022	0.03160	T	-0.373563	0.36474	T	0.0430555994315282	0.04247	T	0.955704	0.83632	D	0.23344924	0.46149	0.20587438	0.44777	0.23344924	0.46149	0.20587438	0.44776	-9.432	0.70666	D	.	.	0.171	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	3.777090	0.54290	23.5	0.98787174072175021	0.46222	0.92418	0.55666	D	AEFDGBCIJ	0.744300	0.68733	D	-0.0306868272694232	0.40470	2.403841	0.180558402993533	0.48783	3.089607	0.999999999909678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	4.634000	0.61023	4.057000	0.41556	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.9242:0.0:0.0758	12.575	0.55713	8	0.99202	SLC12A transporter, C-terminal;.;SLC12A transporter, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1206.83	39	chr16	67945400	.	C	A	1206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.68;DP=277;ExcessHet=0;FS=6.472;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.119;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	5	0	1	0
chr16	67977673	67977673	C	T	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon6:c.G913A:p.D305N,DPEP3:NM_001370198:exon6:c.G913A:p.D305N	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0085	0.00179712	0.0071	0.0018	0.0050	0	0.0075	0.0108	0.0042	0.0005	0.0057567	890	154602	rs113700215	0.0084	0.0085	0.0087	0.0082	0.0100	0.0083	0.0083	0.0098	0.0097	0.0016	0.0043	0.0071	2.523e-05	0.0049	0.0094	0.0100	0.0078	0.0005	0.0065	0.0065	0.0069	0.0061	0.0107	0.0062	0.0060	0.0101	0.0098	0.0016	0	0.0052	0.0072	0	0.0058	0.0170	0.0107	0.0057	0.0015	0.019	0.50132	D	0.027	0.55341	D	.	.	.	.	.	.	0.000069	0.52346	D	0.163209	0.999962	0.52935	D	.	.	.	-1.05	0.76690	T	-4.94	0.81835	D	0.843	0.83885	0.294	0.87457	D	0.622	0.86684	D	10	0.030775398	0.01206	T	.	.	.	0.536	0.80545	.	.	0.738534255785	0.73619	0.6396339928951928	0.63898	0.655607062835	0.58596	0.517298877239	0.41246	T	.	.	.	-0.373134	0.03439	T	-0.299362	0.44792	T	0.0678064081343493	0.08340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.892310	0.56638	23.8	0.99900943855581004	0.97275	0.92204	0.55177	D	AEFDBCI	0.601214	0.59355	D	0.64643027164283	0.76138	6.431471	0.469742295633751	0.65994	4.894725	0.999579298714507	0.40495	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.63947	0.58350	0	.	.	4.84	2.85	0.32333	5.890000	0.69515	1.819000	0.29025	0.597000	0.34315	1.000000	0.71638	0.934000	0.28616	0.613000	0.31716	0.0:0.7645:0.1517:0.0838	8.874	0.34493	10	0.99061	.	.	.	.	.	rs113700215	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	0.004532	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	959.83	38	chr16	67977673	.	C	T	959.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=236;ExcessHet=0;FS=5.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=0.664;SOR=1.63	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	5	0	1	0
chr16	68296494	68296494	A	G	exonic	SLC7A6	.	nonsynonymous SNV	SLC7A6:NM_003983:exon9:c.A1250G:p.K417R,SLC7A6:NM_001076785:exon10:c.A1250G:p.K417R	.	421	1086	14	1	0	16	0.00731261	.	.	.	726745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.263	0.0472224451677	0.0012	0.000798722	0.0017	9.61e-05	0.0009	0	0.0003	0.0027	0	0.0011	0.0015977	247	154602	rs79087422	0.0017	0.0017	0.0016	0.0018	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0012	0.0003	0	0.0009	0.0054	0.0019	0.0019	0.0012	0.0016	0.0016	0.0017	0.0014	0.0027	0.0014	0.0014	0.0024	0.0023	0.0003	0	0.0012	0.0006	0	0.0008	0.0204	0.0027	0.0019	0.0006	0.068	0.35726	T	0.056	0.46632	T	0.0	0.02946	B	0.0	0.01387	B	0.249427	0.15542	N	0.690248	1	0.08975	N	-0.37	0.03087	N	-2.55	0.89561	D	-0.75	0.21003	N	0.137	0.13484	-0.3791	0.72679	T	0.422	0.76677	T	10	0.009230226	0.00209	T	0.047222	0.62824	D	0.263	0.57612	.	.	0.790216378643	0.78827	0.6076084194231848	0.60692	0.367638273831	0.38325	0.33470916748	0.15644	T	0.240374	0.60869	T	-0.385667	0.02868	T	-0.329811	0.41489	T	0.0332240573910453	0.02508	T	0.184382	0.01906	T	0.15999849	0.35911	0.10670322	0.25676	0.15999849	0.35911	0.10670322	0.25675	-4.884	0.35555	T	.	.	0.078	0.06942	B	.;.	.;.	3.084215	0.41504	21.4	0.9536978989334971	0.26779	0.90514	0.51753	D	AEFDBCI	0.778922	0.71127	D	-0.392549536209376	0.25732	1.399149	-0.255442188865537	0.29583	1.658641	0.999999947205826	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.17	5.17	0.70848	7.323000	0.78378	9.341000	0.80216	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.239	0.59416	34	0.98095	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.025862	0.000000	0.000000	0.08333	3143.83	34	chr16	68296494	.	A	G	3143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=429;ExcessHet=0;FS=1.015;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.143;SOR=0.783	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr16	69119090	69119090	C	T	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.G1339A:p.G447R,DERPC:NM_001002847:exon3:c.G1339A:p.G447R,DERPC:NM_001040144:exon3:c.G1339A:p.G447R,DERPC:NM_001366604:exon3:c.G1339A:p.G447R	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0684988637167	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434956115	8.535e-05	7.475e-05	0.0001	6.038e-05	0.0005	6.574e-05	5.89e-05	8.675e-05	4.668e-05	6.326e-05	0	0	0	0.0002	0.0005	7.887e-05	0.0003	6.377e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.414e-05	0	0	0	0.0002	0.23	0.18308	T	0.071	0.43531	T	0.999	0.77913	D	0.943	0.67921	D	0.000231	0.47286	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.28	0.32185	N	0.315	0.35514	-0.7941	0.55491	T	0.251	0.62061	T	8	0.23220494	0.40212	T	0.068499	0.70468	D	0.138	0.37187	0.159	0.06287	0.784296655456	0.78230	0.2353146721310866	0.23446	.	.	0.59156692028	0.51715	T	0.03143	0.22039	T	0.0104263	0.53082	T	-0.0258283	0.68646	D	0.699888348579407	0.40713	D	0.578742	0.20864	T	0.056838945	0.11236	0.08631294	0.19989	0.056838945	0.11236	0.08631294	0.19988	-7.076	0.54588	T	.	.	0.227	0.45966	B	.	.	2.857995	0.37752	20.6	0.96003720723687513	0.28422	0.22161	0.21652	N	AEFDBCI	0.147123	0.27073	N	0.239203869300633	0.53106	3.481168	0.156824694494327	0.47503	2.979695	0.998202059385147	0.36574	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	2.007000	0.40503	7.634000	0.62871	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.853000	0.40368	0.184:0.816:0.0:0.0	11.118	0.47492	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	879.83	35	chr16	69119090	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.702;DP=227;ExcessHet=0;FS=3.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=0.86;SOR=1.352	GT:AD:DP:GQ:PL	0/1:12,33:45:99:890,0,256	5	0	1	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A,DERPC:NM_001002847:exon3:c.C631G:p.P211A,DERPC:NM_001040144:exon3:c.C631G:p.P211A,DERPC:NM_001366604:exon3:c.C631G:p.P211A	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1255.83	35	chr16	69119798	.	G	C	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=276;ExcessHet=0;FS=6.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.082;SOR=1.378	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1370	5	0	1	0
chr16	69150670	69150670	G	C	exonic	UTP4	.	nonsynonymous SNV	UTP4:NM_001318391:exon7:c.G623C:p.R208P,UTP4:NM_032830:exon7:c.G872C:p.R291P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.179054384861	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs760350216	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.541e-05	0	0	0	0	0.0001	0.0005	2.878e-05	8.279e-05	1.159e-05	5.909e-05	5.905e-05	5.139e-05	6.713e-05	8.82e-05	3.075e-05	2.208e-05	3.762e-05	2.575e-05	0	0	0	0	0	0.0002	0.0034	8.82e-05	0	0	0.007	0.61437	D	0.006	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.46	0.55266	T	-6.05	0.89796	D	0.942	0.94904	-0.5962	0.64971	T	0.226	0.59096	T	10	0.81939757	0.81154	D	0.179054	0.85397	D	0.563	0.82118	0.538	0.64874	0.768968178209	0.76685	0.8928590107996033	0.89255	0.900229685615	0.70609	0.649731576443	0.59948	T	0.379697	0.74239	T	0.213222	0.75134	D	0.198953	0.83070	D	0.96636301279068	0.67559	D	0.907909	0.67446	D	0.8765765	0.89388	0.8258948	0.89918	0.8765765	0.89389	0.8258948	0.89918	-14.08	0.93313	D	0.7855888199124084	0.86484	0.974	0.90086	P	.;.;.;.	.;.;.;.	5.414113	0.90608	31	0.9977128300959891	0.85918	0.98408	0.82470	D	AEFBCI	0.962280	0.98383	D	0.729243432158932	0.81550	7.548458	0.646462670387594	0.78349	6.858081	0.999994153173942	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.702456	0.68683	0	0.691587	0.68394	0	.	.	5.86	4.91	0.63897	8.951000	0.92928	8.661000	0.77972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0708:0.0:0.9292:0.0	14.502	0.67309	101	0.95833	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1728.83	34	chr16	69150670	.	G	C	1728.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.96;SOR=0.655	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr16	69332828	69332828	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001374871:exon4:c.G1468A:p.G490R,COG8:NM_001379261:exon4:c.G1468A:p.G490R,COG8:NM_001379262:exon4:c.G1468A:p.G490R,COG8:NM_001379263:exon4:c.G1468A:p.G490R,COG8:NM_001379264:exon4:c.G1468A:p.G490R,COG8:NM_001379265:exon4:c.G1468A:p.G490R,COG8:NM_032382:exon4:c.G1468A:p.G490R	Congenital disorder of glycosylation, type IIh	.	.	.	.	.	.	.	.	.	.	3952170	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00319776583643	.	.	4.943e-05	0	0	0.0001	0	4.496e-05	0	0.0001	3.88e-05	6	154602	rs202134146	4.31e-05	4.309e-05	4.492e-05	4.125e-05	0.0007	3.442e-05	3.129e-05	0.0002	0.0001	5.974e-05	2.236e-05	3.826e-05	0	0.0001	0.0007	3.237e-05	0.0001	6.956e-05	5.251e-05	5.249e-05	3.854e-05	6.711e-05	7.349e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0	0	0.0002	0.0034	7.349e-05	0	0	0.564	0.06302	T	0.704	0.05642	T	0.002	0.09854	B	0.001	0.04355	B	0.000036	0.55875	D	0.159344	0.971136	0.38848	D	0	0.06538	N	1.0	0.41392	T	1.45	0.00785	N	0.044	0.01658	-1.0539	0.13332	T	0.048	0.20672	T	10	0.08085534	0.13171	T	0.003198	0.07026	T	0.050	0.13987	0.19	0.10039	0.417081434665	0.41324	0.26786364130994156	0.26699	0.165353599507	0.18651	0.378655612469	0.22066	T	0.009634	0.08763	T	-0.410739	0.01965	T	-0.646246	0.09220	T	0.0451463379090555	0.04628	T	0.806719	0.45571	T	0.09886484	0.23325	0.14327386	0.34055	0.09886484	0.23325	0.14327386	0.34054	-2.688	0.07203	T	.	.	0.097	0.15966	B	.;.;.	.;.;.	2.042577	0.25964	16.95	0.78278220849859836	0.12232	0.86041	0.45249	D	AEFBI	0.169317	0.29614	N	-0.346103170301881	0.27415	1.503974	-0.107812951046761	0.35074	2.024926	0.999997546037177	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.94	0.64645	2.386000	0.44034	2.868000	0.35247	0.599000	0.40250	0.973000	0.34540	0.910000	0.28117	0.635000	0.32288	0.0:0.6373:0.3627:0.0	13.127	0.58780	117	0.95266	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	929.83	39	chr16	69332828	.	C	T	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=251;ExcessHet=0;FS=0.936;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.943;SOR=0.829	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1482	5	0	1	0
chr16	69711199	69711199	C	T	exonic	NQO1	.	nonsynonymous SNV	NQO1:NM_001286137:exon4:c.G386A:p.R129Q,NQO1:NM_001025433:exon5:c.G500A:p.R167Q,NQO1:NM_001025434:exon5:c.G488A:p.R163Q,NQO1:NM_000903:exon6:c.G602A:p.R201Q	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0482100442533	.	.	4.946e-05	0	0	0.0001	0	1.499e-05	0	0.0002	3.88e-05	6	154602	rs766847268	3.215e-05	3.215e-05	2.722e-05	3.713e-05	0.0002	2.478e-05	2.22e-05	0.0002	0.0001	0	0	0	5.038e-05	0	0.0002	1.978e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.106	0.91255	T	0.007	0.69154	D	1.0	0.90584	D	0.986	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.205	0.89189	M	2.92	0.09915	T	-3.91	0.73042	D	0.865	0.88466	-0.9984	0.30367	T	0.112	0.40099	T	10	0.94267154	0.93592	D	0.04821	0.63269	D	0.362	0.68230	0.787	0.90993	0.661220806347	0.65838	0.9502973620784766	0.95012	1.20347111014	0.80607	0.376145541668	0.21709	T	0.219086	0.58199	T	0.0326523	0.56077	T	0.083426	0.75808	D	0.936216950416565	0.60504	D	0.858514	0.54939	D	0.8986126	0.91259	0.82499266	0.89860	0.8986126	0.91260	0.82499266	0.89860	-3.322	0.60858	T	.	.	0.182	0.43186	B	.;.;.;.;.;.	.;.;.;.;.;.	4.097170	0.61070	24.3	0.99946680510414521	0.99913	0.94205	0.60432	D	AEFDBCI	0.799517	0.72575	D	0.705202886678293	0.79974	7.192453	0.608705958684568	0.75573	6.334144	1.0	0.98316	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.524000	0.66820	3.301000	0.37383	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.469000	0.28319	0.0:1.0:0.0:0.0	18.331	0.90211	74	0.96871	.;.;Flavodoxin-like fold;.;.;Flavodoxin-like fold	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	321.83	38	chr16	69711199	.	C	T	321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=187;ExcessHet=0;FS=8.33;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.326;SOR=2.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1081	5	0	1	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1667	6133.06	340	chr16	70156667	.	C	T	6133.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.8;DP=794;ExcessHet=0.4139;FS=1.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.92;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	4	0	2	0
chr16	70156673	70156673	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2134A:p.V712I,PDPR:NM_001322119:exon17:c.G1228A:p.V410I,PDPR:NM_001322117:exon19:c.G2434A:p.V812I,PDPR:NM_017990:exon19:c.G2434A:p.V812I	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0221185685047	.	.	2.484e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs769864545	2.463e-05	2.599e-05	2.314e-05	2.613e-05	0.0002	1.803e-05	1.6e-05	5.804e-05	3.952e-05	0.0001	0.0001	0	2.519e-05	0	0.0002	1.439e-05	6.626e-05	4.637e-05	1.313e-05	1.313e-05	2.568e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.347	0.17183	T	0.418	0.15698	T	0.805	0.45210	P	0.251	0.39041	B	0.003577	0.34767	N	0.272597	1	0.81001	D	0.705	0.18577	N	-0.73	0.73100	T	-0.45	0.17834	N	0.255	0.31140	-0.8827	0.49545	T	0.143	0.46404	T	10	0.28888893	0.46471	T	0.022119	0.44975	T	0.233	0.53499	0.421	0.46365	0.696055638072	0.69343	0.37690752582351267	0.37605	0.0528722690581	0.05827	0.539738893509	0.44409	T	0.086557	0.62422	T	-0.242974	0.14973	T	-0.317492	0.42850	T	0.141180750124532	0.16377	T	0.869413	0.61778	D	0.015837802	0.00160	0.029511323	0.01296	0.015837802	0.00160	0.029511323	0.01296	-5.571	0.42526	T	.	.	0.092	0.16843	B	.;.;.;.;.	.;.;.;.;.	2.997861	0.40049	21.1	0.92556284520899013	0.22008	0.96601	0.69959	D	AEFDGBCI	0.850647	0.76748	D	-0.313313313747134	0.28641	1.581485	-0.211540607016191	0.31119	1.758283	0.999999997292901	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	4.08	0.46880	8.103000	0.89389	7.375000	0.58420	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.1375:0.0:0.8625:0.0	12.331	0.54364	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1266.83	38	chr16	70156673	.	G	A	1266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.201;DP=478;ExcessHet=0;FS=17.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.181;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	5	0	1	0
chr16	70174403	70174403	G	A	splicing	CLEC18C	NM_173619:exon2:c.124+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0	0	0	0	.	0	0	0	0.0001921	5	26028	rs202244675	0.0012	0.0012	0.0010	0.0013	0.0068	0.0011	0.0011	0.0063	0.0061	0.0001	0	0	2.671e-05	0.0101	0.0016	0.0005	0.0005	0.0068	0.0016	0.0014	0.0007	0.0026	0.0067	0.0014	0.0014	0.0047	0.0041	0.0003	0	0	0	0	0.0152	0	0.0004	0.0006	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0887328	0.63046	D	-0.110318	0.62586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.389316	0.95130	34	0.94867416063574017	0.25685	0.90344	0.51445	D	AEFI	.	.	.	0.816121732903105	0.87103	9.104115	0.595357962185691	0.74605	6.16577	1.0459280926952E-4	0.05123	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.709333	0.43115	4.62	4.62	0.56946	2.558000	0.45541	11.293000	0.92086	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.0:1.0:0.0	13.320	0.59864	163	0.93656	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	58.85	15	chr16	70174403	.	G	A	58.85	.	AC=2;AF=0.2;AN=10;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=34.12;QD=29.43;SOR=0.693	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,310	4	1	0	1
chr16	70474641	70474641	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon17:c.C2102T:p.P701L	.	431	1087	4	0	0	4	0.00183655	.	.	.	1674288	FCSK-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	0.02209013431	0.0022	0.000399361	0.0028	0.0005	0.0019	0	0.0019	0.0048	0	0.0004	0.0012872	199	154602	rs17883716	0.0020	0.0020	0.0021	0.0020	0.0024	0.0020	0.0019	0.0021	0.0021	0.0003	0.0011	0.0065	0	0.0016	0.0024	0.0022	0.0027	0.0007	0.0016	0.0016	0.0017	0.0015	0.0022	0.0014	0.0013	0.0019	0.0018	0.0005	0.0033	0.0014	0.0095	0	0.0011	0	0.0022	0.0014	0.0002	0.044	0.41096	D	0.15	0.39645	T	0.955	0.54515	P	0.267	0.39770	B	0.000110	0.50451	N	0.176184	0.999999	0.58761	D	1.96	0.53105	M	3.12	0.09450	T	-4.86	0.81187	D	0.212	0.27197	-1.0076	0.27665	T	0.023	0.09923	T	10	0.009066969	0.00205	T	0.02209	0.44941	T	0.123	0.34020	.	.	0.454426139905	0.45068	0.6308581257627603	0.63019	0.065297728541	0.07291	0.462691396475	0.33680	T	0.400324	0.75793	T	-0.446816	0.01179	T	-0.420455	0.31024	T	0.059460497673383	0.07083	T	0.756024	0.39533	T	0.09423522	0.22152	0.1124079	0.27122	0.088552795	0.20660	0.09575478	0.22722	-8.413	0.63851	D	.	.	0.114	0.22609	B	.;.;.	.;.;.	3.031291	0.40608	21.2	0.99432932447811506	0.64374	0.80669	0.40247	D	AEFDBCI	0.397666	0.47365	N	-0.0499106597354057	0.39607	2.338368	-0.00350760265142902	0.39556	2.347212	0.999441380299213	0.39736	0.732398	0.92422	0	0.743671	0.97443	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.77	3.72	0.41857	3.005000	0.49208	1.403000	0.26213	-0.182000	0.10109	0.992000	0.37556	0.787000	0.26830	0.345000	0.25546	0.146:0.7799:0.0:0.0741	9.031	0.35422	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002538	0.000000	0.004087	0.000000	0.000000	0.000000	0.006173	0.000000	0.08333	1044.83	66	chr16	70474641	.	C	T	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.279;DP=228;ExcessHet=0;FS=9.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.236;SOR=0.424	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1105	5	0	1	0
chr16	70674433	70674433	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon11:c.G926A:p.S309N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0201452794693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.013	0.63109	D	0.584	0.38894	P	0.177	0.35687	B	0.002269	0.36887	U	0.211722	0.997475	0.43918	D	2.425	0.70256	M	1.34	0.34841	T	-1.17	0.29933	N	0.214	0.27077	-0.9181	0.45811	T	0.111	0.39794	T	10	0.22999194	0.39940	T	0.020145	0.42684	T	0.066	0.19193	0.277	0.23004	0.213499824651	0.20940	0.5165263430387269	0.51575	0.255577391179	0.28147	0.738223016262	0.72711	T	0.064245	0.32385	T	-0.173068	0.24772	T	-0.486377	0.23771	T	0.930278539657593	0.59488	D	0.746025	0.36642	T	0.20940562	0.43206	0.19931784	0.43807	0.20940562	0.43206	0.19931784	0.43806	-10.325	0.75835	D	.	.	0.264	0.54324	B	.;.	.;.	4.408076	0.68175	25.2	0.99393272231631724	0.62428	0.95932	0.66779	D	AEFDGBHCI	0.692268	0.65199	D	0.23565169934389	0.52934	3.464652	0.283954786271595	0.54601	3.624728	0.999999999999989	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.31	4.31	0.50718	4.719000	0.61629	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.392	0.83380	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	420.83	39	chr16	70674433	.	C	T	420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.852;DP=210;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.46;SOR=0.641	GT:AD:DP:GQ:PL	0/0:29,0:29:87:0,87,934	5	0	1	0
chr16	70687972	70687972	G	A	exonic	VAC14	.	nonsynonymous SNV	VAC14:NM_001351157:exon18:c.C1603T:p.R535W,VAC14:NM_018052:exon19:c.C2305T:p.R769W	Striatonigral degeneration, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.032162679102	.	.	8.572e-06	0	0	0	0	1.544e-05	0	0	6.5e-06	1	154602	rs758556490	1.389e-05	2.531e-05	1.378e-05	1.4e-05	1.273e-05	9.07e-06	7.37e-06	7.39e-06	5.78e-06	0	0	0	0	0	0	1.273e-05	0.0001	0	1.313e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.013	0.67890	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	.	.	.	-2.89	0.65283	D	0.678	0.68516	-0.5276	0.67632	T	0.275	0.64691	T	9	0.7139844	0.73226	D	0.032163	0.54066	D	0.594	0.83857	0.629	0.76478	0.198222871337	0.19423	0.4059982439727694	0.40515	1.29207387054	0.82819	0.645174384117	0.59300	T	0.520177	0.83206	D	0.241975	0.77849	D	0.109804	0.77560	D	0.962183058261871	0.66295	D	0.967803	0.88325	D	0.42539227	0.62449	0.34732255	0.60388	0.42539227	0.62450	0.34732255	0.60387	-5.475	0.41633	T	0.22304313355537989	0.30101	0.229	0.46097	B	.;.	.;.	6.086120	0.94526	34	0.99917921378628105	0.98518	0.98947	0.89017	D	AEFDBI	0.872398	0.79423	D	0.612484223473893	0.73962	6.052752	0.643654426658578	0.78139	6.816522	0.999999999917327	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.635259	0.50027	0	.	.	5.44	5.44	0.79348	5.824000	0.68964	9.874000	0.82149	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	19.269	0.93987	341	0.85936	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1035.83	62	chr16	70687972	.	G	A	1035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=235;ExcessHet=0;FS=2.161;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-0.264;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	5	0	1	0
chr16	70780823	70780823	C	T	exonic	VAC14	.	nonsynonymous SNV	VAC14:NM_001351157:exon8:c.G361A:p.D121N,VAC14:NM_018052:exon9:c.G1063A:p.D355N	Striatonigral degeneration, childhood-onset, Autosomal recessive	425	1096	1	0	0	1	0.000455996	.	.	.	2407176	Striatonigral_degeneration,_childhood-onset	MONDO:MONDO:0014889,MedGen:C4310743,OMIM:617054,Orphanet:497906	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.007436760881	.	.	0.0001	0	0	0	0	3.076e-05	0	0.0009	9.06e-05	14	154602	rs767382527	0.0001	0.0001	9e-05	0.0001	0.0007	9.114e-05	8.619e-05	0.0005	0.0005	0	0	0	0.0001	0	0.0005	7.029e-05	0.0001	0.0007	1.314e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.097	0.30943	T	0.137	0.33894	T	0.002	0.09854	B	0.001	0.04355	B	0.007110	0.31595	N	0.380726	0.999762	0.20447	N	0.92	0.23413	L	.	.	.	-1.42	0.34992	N	0.046	0.01825	-1.0345	0.19014	T	0.123	0.42589	T	9	0.025434792	0.00738	T	0.007437	0.19739	T	0.042	0.11227	0.236	0.16608	0.043077524339	0.03247	0.357743368675408	0.35688	0.420025717159	0.42536	0.363627851009	0.19912	T	0.339528	0.70866	T	-0.568039	0.00227	T	-0.652105	0.08806	T	0.0461151748895645	0.04804	T	0.748625	0.36937	T	0.062178656	0.12957	0.048083883	0.07066	0.062178656	0.12956	0.048083883	0.07066	-3.681	0.19038	T	0.10500830335619588	0.08276	0.082	0.08948	B	.	.	1.349076	0.17565	13.24	0.99294609115282395	0.58397	0.90700	0.52096	D	AEFDBI	0.264928	0.38216	N	-0.639162244405679	0.17777	0.9176293	-0.575810208826899	0.20125	1.082843	0.999994414713143	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.69	0.41483	2.016000	0.40591	0.829000	0.21929	0.599000	0.40250	0.866000	0.30720	0.154000	0.23205	0.009000	0.08673	0.0:0.8319:0.0:0.1681	9.617	0.38860	473	0.77910	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1580.83	33	chr16	70780823	.	C	T	1580.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.637;DP=284;ExcessHet=0;FS=6.327;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.142;SOR=0.326	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	5	0	1	0
chr16	71626482	71626482	C	A	exonic	MARVELD3	.	nonsynonymous SNV	MARVELD3:NM_001017967:exon1:c.C253A:p.P85T,MARVELD3:NM_001271329:exon1:c.C253A:p.P85T,MARVELD3:NM_052858:exon1:c.C253A:p.P85T	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00475299881598	0.0003	.	0.0006	0	0	0	0	0.0015	0	0	0.0002393	37	154602	rs201459139	0.0004	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0030	0.0004	0.0036	0	0	0.0068	0.0002	0.0012	0.0001	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	7.898e-05	0.0002	0	0.0003	0.0049	0	0	0.0068	0.0002	0.0019	0	0.423	0.09746	T	0.11	0.37310	T	0.014	0.16867	B	0.004	0.10090	B	1.000000	0.07966	U	0.379473	1	0.08975	N	0.69	0.16971	N	1.06	0.41392	T	-2.89	0.60665	D	0.039	0.01421	-1.0118	0.26353	T	0.043	0.18493	T	10	0.0050797462	0.00110	T	0.004753	0.11847	T	0.022	0.04323	.	.	0.0762999501168	0.06990	0.14793051786002642	0.14715	0.249479662165	0.27528	0.513735115528	0.40745	T	0.009625	0.08755	T	-0.478659	0.00753	T	-0.582606	0.14313	T	0.0157016755764648	0.00362	T	0.478252	0.15660	T	0.06332128	0.13322	0.07631251	0.16891	0.06332128	0.13322	0.07631251	0.16891	-4.875	0.37590	T	.	.	0.086	0.15025	B	.;.;.;.	.;.;.;.	0.273941	0.06514	2.994	0.64503548265276089	0.07512	0.02354	0.06714	N	AEFDBHCI	0.057573	0.10738	N	-1.37389337514624	0.02884	0.1280302	-1.40053179346747	0.03247	0.1510866	0.999946740745735	0.47345	0.441713	0.08003	0	0.491552	0.07993	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.36	-0.351	0.11976	0.073000	0.14504	0.656000	0.20461	-0.522000	0.04976	0.002000	0.15269	0.017000	0.20586	0.030000	0.13115	0.0:0.5724:0.4276:0.0	9.134	0.36025	107	0.95615	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004476	0.005618	0.005415	0.006897	0.000000	0.012195	0.000000	0.005051	0.08333	1130.83	95	chr16	71626482	.	C	A	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=333;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=2.39;SOR=0.582	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1338	5	0	1	0
chr16	71969982	71969982	G	A	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon13:c.C2077T:p.R693C	.	.	.	.	.	.	.	.	.	.	.	2396930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.576e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs553586556	2.144e-05	2.052e-05	2.256e-05	2.028e-05	0.0002	1.521e-05	1.32e-05	2.515e-05	1.297e-05	9.494e-05	5.602e-05	0	0	0	0.0002	2.039e-05	1.723e-05	1.262e-05	9.852e-05	9.843e-05	5.14e-05	0.0001	0.0003	6.004e-05	4.878e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.012	0.63918	D	1.0	0.90584	D	0.828	0.59497	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	.	.	.	.	.	.	.	0.15141922	0.28621	T	.	.	.	.	.	.	.	0.290962096972	0.28708	0.3446700023600799	0.34380	.	.	0.259750157595	0.04861	T	0.190394	0.54492	T	-0.042832	0.45527	T	-0.0626331	0.66149	T	.	.	.	0.622938	0.23989	T	0.20378724	0.42467	0.17523074	0.39974	0.20378724	0.42467	0.17523074	0.39973	-7.349	0.56544	T	.	.	0.139	0.30344	B	.	.	3.024580	0.40491	21.2	0.68637396395911288	0.08720	0.41038	0.26569	N	AEFBI	.	.	.	.	.	.	.	.	.	0.113254022347004	0.16704	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.662797	0.42031	5.29	3.1	0.34780	2.614000	0.46024	0.467000	0.18675	0.676000	0.76740	0.510000	0.27033	0.000000	0.08366	0.167000	0.20881	0.0:0.2362:0.4707:0.2931	6.925	0.23588	87	0.96348	.	.	.	.	.	.	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	1586.83	35	chr16	71969982	.	G	A	1586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.812;DP=352;ExcessHet=0;FS=5.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.742;SOR=0.374	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	5	0	1	0
chr16	71978340	71978340	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon10:c.G1442C:p.R481T	.	437	1061	21	3	0	27	0.012564	.	.	.	2817746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00139776	0.0046	0.0005	0.0049	0	0.0018	0.0069	0.0041	0.0039	0.001229	190	154602	rs78847227	0.0043	0.0042	0.0043	0.0044	0.0119	0.0042	0.0042	0.0097	0.0088	0.0008	0.0042	0.0085	0	0.0012	0.0119	0.0046	0.0055	0.0035	0.0033	0.0033	0.0035	0.0031	0.0049	0.0030	0.0030	0.0044	0.0043	0.0006	0.0164	0.0042	0.0089	0	0.0009	0.0102	0.0049	0.0048	0.0023	.	.	.	0.06	0.45744	T	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.004127741	0.00081	T	.	.	.	.	.	.	.	0.112648838833	0.10856	0.3126974060576522	0.31182	.	.	0.324828505516	0.14152	T	0.031258	0.21961	T	-0.453462	0.01077	T	-0.420138	0.31060	T	.	.	.	0.464354	0.13557	T	0.063487284	0.13372	0.092124306	0.21695	0.063487284	0.13372	0.092124306	0.21694	-3.568	0.17395	T	.	.	0.126	0.26669	B	.	.	-0.049723	0.03950	0.884	0.59147332785512841	0.06156	0.01292	0.04497	N	AEFDI	.	.	.	.	.	.	.	.	.	3.6990022583737E-4	0.06707	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0970973	0.21743	4.92	-1.59	0.08003	-0.857000	0.04394	-0.881000	0.07064	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0:0.3611:0.1605:0.4784	4.706	0.12228	93	0.96133	.	.	.	.	.	.	Likely benign	0	0	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	0.002519	0.000000	0.026786	0.009009	0.083333	0.000000	0.005882	0.000000	0.08333	557.83	35	chr16	71978340	.	C	G	557.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=222;ExcessHet=0;FS=1.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.627;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	5	0	1	0
chr16	71979913	71979913	C	T	splicing	PKD1L3	NM_181536:exon9:c.1272-1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0001	0	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs200969421	0.0003	0.0003	0.0003	0.0003	0.0051	0.0003	0.0003	0.0036	0.0032	0.0006	0.0010	0	0	0	0.0051	0.0003	0.0007	7.605e-05	0.0004	0.0004	0.0003	0.0004	0.0012	0.0003	0.0003	0.0008	0.0006	0.0003	0	0.0012	0	0.0002	0	0.0068	0.0002	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236462	0.15802	T	-0.162879	0.58093	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.403369	0.47175	22.4	0.95595396968130975	0.27324	0.67343	0.33398	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999993830767098	0.74766	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.939639	0.60083	5.23	5.23	0.72570	3.173000	0.50540	4.851000	0.45376	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	0.0:1.0:0.0:0.0	14.319	0.66033	95	0.96074	.	.	.	.	.	.	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	982.83	73	chr16	71979913	.	C	T	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=286;ExcessHet=0;FS=6.239;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.922;SOR=1.415	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	0
chr16	72056596	72056596	-	T	exonic	HP	.	stopgain	HP:NM_001318138:exon3:c.156dupT:p.K53*,HP:NM_005143:exon3:c.156dupT:p.K53*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	369.8	23	chr16	72056596	.	G	GT	369.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.741;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.72;MQRankSum=-0.87;QD=16.08;ReadPosRankSum=-0.586;SOR=0.776	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,644	5	0	1	0
chr16	72787702	72787719	CCGCCGCCGCCGCCGCCA	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7815_7832del:p.G2608_G2613del,ZFHX3:NM_006885:exon10:c.10557_10574del:p.G3522_G3527del	.	278	1159	76	7	2	92	0.0373754	.	.	.	726784	ZFHX3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0119	.	0.0017	0.0006	0.0008	0.0007	0.0006	0.0012	0.0016	0.0053	7.68e-05	2	26028	rs778016374	0.0011	0.0011	0.0009	0.0013	0.0128	0.0011	0.0011	0.0119	0.0115	0.0009	0.0011	9.946e-05	0.0003	7.732e-05	0.0020	0.0007	0.0014	0.0128	0.0007	0.0007	0.0006	0.0007	0.0047	0.0006	0.0005	0.0032	0.0027	0.0002	0	0.0002	0.0003	0.0011	0.0002	0.0037	0.0008	0.0015	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2048.79	41	chr16	72787701	.	GCCGCCGCCGCCGCCGCCA	G	2048.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.446;DP=348;ExcessHet=0;FS=0.787;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=1.6;SOR=0.558	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,109,1187	5	0	1	0
chr16	72788746	72788746	G	A	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.C6788T:p.S2263L,ZFHX3:NM_006885:exon10:c.C9530T:p.S3177L	.	406	1099	17	0	0	17	0.00767494	.	.	.	726785	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.299	.	0.0040	0.00479233	0.0070	0.0012	0.0016	0.0002	0.0127	0.0073	0.0135	0.0176	0.0063647	984	154602	rs149133285	0.0066	0.0066	0.0062	0.0070	0.0165	0.0065	0.0064	0.0158	0.0155	0.0010	0.0015	0.0036	5.059e-05	0.0136	0.0032	0.0063	0.0056	0.0165	0.0044	0.0045	0.0041	0.0048	0.0147	0.0042	0.0041	0.0120	0.0110	0.0010	0	0.0014	0.0052	0.0002	0.0126	0.0068	0.0055	0.0047	0.0147	0.134	0.26300	T	0.109	0.39190	T	0.614	0.39766	P	0.091	0.29943	B	0.015144	0.28328	N	0.167464	0.999999	0.81001	D	1.24	0.30952	L	-0.76	0.73417	T	0.89	0.01641	N	0.085	0.12770	-0.6872	0.61038	T	0.122	0.42420	T	10	0.0069570243	0.00158	T	.	.	.	0.299	0.61955	.	.	0.0675242888579	0.06100	0.31363065529219614	0.31276	0.082486663882	0.09310	0.512208878994	0.40531	T	0.067121	0.33122	T	-0.319832	0.06911	T	-0.218567	0.52876	T	0.0190407235609248	0.00613	T	0.842416	0.51891	T	0.066226736	0.14229	0.07746864	0.17261	0.06979778	0.15322	0.07746864	0.17261	-3.693	0.19215	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	4.132775	0.61862	24.4	0.99091553217913653	0.52222	0.91826	0.54346	D	AEFDBCIJ	.	.	.	0.0899268609035179	0.45994	2.846772	0.298987890251713	0.55482	3.711035	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.673471	0.61138	0	0.683762	0.67416	0	.	.	5.89	5.89	0.94758	5.277000	0.65396	9.962000	0.82803	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.253	0.98412	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007049	0.000000	0.008152	0.011696	0.000000	0.025862	0.003049	0.003788	0.08333	1907.83	41	chr16	72788746	.	G	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.767;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.631;SOR=0.731	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr16	74385569	74385569	G	A	exonic	NPIPB15	.	nonsynonymous SNV	NPIPB15:NM_001306094:exon4:c.G365A:p.C122Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.00443013048431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368577356	0.0023	0.0029	0.0025	0.0020	0.0023	0.0021	0.0021	0.0021	0.0021	0.0002	0.0006	7.232e-05	0	0.0108	0.0005	0.0023	0.0024	0	0.0031	0.0041	0.0029	0.0032	0.0039	0.0028	0.0027	0.0035	0.0034	0.0006	0	0.0009	0	0	0.0142	0	0.0039	0	0	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.49	0.55775	T	-3.12	0.63782	D	0.308	0.34767	-0.9390	0.42774	T	0.196	0.54970	T	7	0.24579546	0.41833	T	0.00443	0.10844	T	0.196	0.47777	.	.	0.346315397577	0.34243	0.0031408699983224127	0.00293	4.99964404664	0.99994	.	.	.	0.057183	0.30495	T	-0.0522995	0.44097	T	-0.312901	0.43346	T	0.148935231013273	0.17018	T	0.818818	0.47619	T	0.5022683	0.67228	0.50266147	0.71250	0.5022683	0.67229	0.50266147	0.71251	-3.054	0.10775	T	.	.	0.529	0.65872	A	.	.	2.116785	0.26944	17.29	0.84661427503115538	0.15423	0.02841	0.07592	N	AEFI	0.053455	0.09634	N	-0.327762664168704	0.28096	1.54697	-0.573972078900599	0.20172	1.085655	2.97796656071523E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	.	.	.	0.723000	0.25609	0.172000	0.15530	0.061000	0.17545	1.000000	0.71638	0.001000	0.17328	0.257000	0.23443	.	.	.	696	0.58299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	210.83	34	chr16	74385569	.	G	A	210.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=22.24;MQRankSum=-0.539;QD=3.51;ReadPosRankSum=1.17;SOR=0.409	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	5	0	1	0
chr16	74695757	74695757	T	C	exonic	MLKL	.	startloss	MLKL:NM_001142497:exon2:c.A1G:p.M1?,MLKL:NM_152649:exon2:c.A1G:p.M1?	.	428	1093	1	0	0	1	0.000457247	.	.	.	703807	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.406	.	0.0033	0.00219649	0.0055	0.0009	0.0012	0	0.0300	0.0064	0.0049	7.772e-05	0.0050905	787	154602	rs33972728	0.0071	0.0070	0.0074	0.0067	0.0075	0.0069	0.0069	0.0074	0.0073	0.0011	0.0012	0.0001	2.549e-05	0.0262	0.0014	0.0075	0.0065	2.418e-05	0.0058	0.0058	0.0054	0.0063	0.0073	0.0055	0.0054	0.0068	0.0066	0.0013	0	0.0024	0	0	0.0280	0	0.0073	0.0019	0.0002	0.0	0.91255	D	0.029	0.63109	D	0.952	0.68779	P	0.644	0.67021	P	0.000000	0.84330	D	0.084832	0.999958	0.52396	D	.	.	.	2.0	0.79666	T	-2.63	0.56466	D	0.761	0.82660	0.045	0.83151	D	0.516	0.81879	D	9	0.00624308	0.00141	T	0.300031	0.90851	D	0.406	0.71869	.	.	0.778397103907	0.77635	0.4526847361551046	0.45186	.	.	.	.	.	0.141742	0.59044	T	-0.0434058	0.45441	T	0.171981	0.81526	D	0.0663972493382578	0.08135	T	0.9	0.65058	D	0.8681609	0.88717	0.6946142	0.82021	0.8681609	0.88719	0.6946142	0.82022	-8.028	0.71325	D	.	.	.	.	.	.;.;.	.;.;.	2.216294	0.28277	17.74	0.95189304762866289	0.26370	0.94770	0.62270	D	AEFGBCI	0.070232	0.13934	N	0.362761031498126	0.59418	4.121	0.119041397190265	0.45524	2.813983	0.999999642565584	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683672	0.66515	0	.	.	4.2	3.08	0.34576	2.299000	0.43271	4.747000	0.44638	-0.127000	0.13314	0.985000	0.35982	1.000000	0.68203	0.015000	0.10482	0.0:0.0:0.2033:0.7967	8.197	0.30563	583	0.69484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	477.83	33	chr16	74695757	.	T	C	477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.789;DP=213;ExcessHet=0;FS=2.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.364;SOR=1.201	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	5	0	1	0
chr16	74999927	74999927	C	G	exonic	ZNRF1	.	nonsynonymous SNV	ZNRF1:NM_032268:exon1:c.C256G:p.P86A	.	411	1092	19	0	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0007	0.00259585	0.0084	0	0.0041	0	0.0541	0.0043	0.0063	0.0146	0.0018758	290	154602	rs112370673	0.0020	0.0020	0.0018	0.0023	0.0107	0.0020	0.0019	0.0101	0.0098	0.0002	0.0006	0.0013	0	0.0022	0.0060	0.0016	0.0020	0.0107	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0008	0.0009	0.0002	0.0019	0.0068	0.0014	0.0014	0.0116	0.013	0.54683	D	0.929	0.13103	T	0.98	0.59353	D	0.811	0.58656	P	0.004346	0.33837	N	0.238952	0.982402	0.39888	D	0.69	0.16971	N	.	.	.	-1.18	0.36787	N	0.311	0.42149	-0.7115	0.59879	T	0.169	0.50939	T	9	0.005193025	0.00113	T	.	.	.	0.112	0.31546	.	.	0.128874641272	0.12493	0.44317445975474395	0.44235	0.618583360851	0.56246	0.680616140366	0.64357	T	0.009138	0.08339	T	-0.294774	0.09162	T	-0.186804	0.55889	T	0.0412968066536565	0.03925	T	0.739826	0.36767	T	0.102306746	0.24172	0.0729915	0.15810	0.102306746	0.24172	0.0729915	0.15809	-2.421	0.05263	T	.	.	0.051	0.01290	B	.;.;.;.	.;.;.;.	3.785883	0.54463	23.5	0.98515267012984697	0.42398	0.88716	0.48777	D	AEFDBHCI	0.631225	0.61228	D	0.284316375642299	0.55352	3.699438	0.391905685816939	0.61063	4.301575	0.999999999999872	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.82	4.82	0.61641	5.750000	0.68350	7.408000	0.58623	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.013	0.86285	827	0.39843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002559	0.000000	0.000000	0.014706	0.000000	0.000000	0.003106	0.007634	0.08333	451.83	39	chr16	74999927	.	C	G	451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.75;DP=207;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.019;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1110	5	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	850.83	65	chr16	75224755	.	G	C	850.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.916;DP=241;ExcessHet=0;FS=0.942;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.289;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	5	0	1	0
chr16	81177885	81177885	C	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon3:c.G304A:p.V102I,PKD1L2:NM_001076780:exon14:c.G2359A:p.V787I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0288864205896	0.0002	.	9.15e-05	0	0.0002	0	0	0.0001	0	6.102e-05	7.12e-05	11	154602	rs201712917	0.0001	0.0001	0.0001	0.0001	0.0001	9.267e-05	8.731e-05	0.0001	9.594e-05	0.0001	6.709e-05	0	2.519e-05	0	0	0.0001	0.0002	3.478e-05	7.234e-05	7.224e-05	7.715e-05	6.731e-05	0.0001	3.975e-05	3.13e-05	4.766e-05	3.339e-05	7.252e-05	0	6.547e-05	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	0.374	0.34192	B	0.068	0.27651	B	0.131303	0.18627	N	0.518619	1	0.20721	N	.	.	.	-0.57	0.71307	T	-0.6	0.17834	N	0.191	0.20925	-0.9522	0.40590	T	0.169	0.50923	T	9	0.122522146	0.23245	T	0.028886	0.51492	D	0.063	0.18251	.	.	0.254244900254	0.25046	.	.	.	.	0.295760095119	0.09770	T	.	.	.	-0.377051	0.03251	T	-0.564049	0.15999	T	0.0142751821426963	0.00283	T	0.615039	0.24333	T	.	.	.	.	.	.	.	.	-5.095	0.46171	T	.	.	0.086	0.10835	B	.;.	.;.	-0.417505	0.02148	0.207	0.85997550033706549	0.16246	0.02806	0.07531	N	AEFDBHCI	0.039447	0.05731	N	-0.937481770125212	0.09976	0.4745641	-1.06166705626703	0.08465	0.4163609	0.990257674033179	0.32091	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.89	-2.83	0.05425	-0.875000	0.04314	-5.540000	0.01682	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.4602:0.0:0.5398	10.804	0.45712	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	.	.	.	.	.	.	.	.	0.08333	1140.83	33	chr16	81177885	.	C	T	1140.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=263;ExcessHet=0;FS=2.858;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.635;SOR=0.763	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1418	5	0	1	0
chr16	81216304	81216304	G	A	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon2:c.C404T:p.P135L	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00541598830132	7.9e-05	0.000199681	0.0002	0.0002	0.0003	0	0	0.0002	0.0022	0.0002	0.0002005	31	154602	rs201455881	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0042	0.0037	0.0002	0.0003	0	0	0	0.0057	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	4.812e-05	0	0.0009	0	0	0	0.0136	0.0001	0.0009	0.0004	.	.	.	.	.	.	0.763	0.43659	P	0.173	0.35463	B	0.053175	0.22831	N	0.392776	1	0.08975	N	.	.	.	2.22	0.18248	T	-3.1	0.63554	D	0.14	0.13911	-1.0402	0.17253	T	0.034	0.14683	T	9	0.07927653	0.12734	T	0.005416	0.13893	T	0.103	0.29403	.	.	0.254761474806	0.25079	.	.	.	.	0.257906466722	0.04645	T	.	.	.	-0.442061	0.01258	T	-0.576574	0.14852	T	0.063882129109437	0.07765	T	0.613539	0.23382	T	.	.	.	.	.	.	.	.	-4.013	0.23998	T	.	.	0.089	0.12037	B	.	.	1.637224	0.20899	14.96	0.99569736812668719	0.72318	0.78222	0.38560	D	AEFDBI	0.251631	0.37147	N	0.0297013350485243	0.43209	2.618385	0.0474233095663185	0.41946	2.528804	0.900866755316495	0.26086	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	3.002000	0.49184	2.239000	0.31595	0.672000	0.70159	0.993000	0.37899	0.413000	0.24769	0.042000	0.14466	0.0:0.1491:0.8509:0.0	14.223	0.65383	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.014620	0.000000	0.008621	0.003049	0.000000	0.08333	1350.83	39	chr16	81216304	.	G	A	1350.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.445;DP=279;ExcessHet=0;FS=1.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.361;SOR=1.007	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1315	5	0	1	0
chr16	83994363	83994363	G	A	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon6:c.G409A:p.A137T,NECAB2:NM_001329748:exon7:c.G658A:p.A220T,NECAB2:NM_019065:exon7:c.G658A:p.A220T	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0003	0.00419329	0.0026	0.0010	0.0003	0.0005	0	3.005e-05	0	0.0177	0.0022121	342	154602	rs146128471	0.0013	0.0013	0.0008	0.0019	0.0192	0.0013	0.0013	0.0184	0.0181	0.0016	0.0003	0	5.038e-05	0	0.0010	0.0001	0.0015	0.0192	0.0009	0.0009	0.0005	0.0014	0.0195	0.0008	0.0008	0.0163	0.0151	0.0009	0	0.0004	0	0.0004	0	0	2.94e-05	0	0.0195	0.706	0.04671	T	0.582	0.08746	T	0.186	0.29254	B	0.014	0.16862	B	0.298607	0.14639	N	0.688531	1	0.08975	N	0.69	0.16971	N	2.28	0.22270	T	-0.25	0.11008	N	0.065	0.03726	-0.9882	0.33052	T	0.010	0.03765	T	10	0.0041571558	0.00082	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.16729902338853214	0.16649	.	.	0.22766110301	0.01799	T	0.007675	0.11099	T	-0.639039	0.00084	T	-0.675117	0.07284	T	0.00118534742772801	0.00012	T	0.252275	0.03843	T	0.023930144	0.01176	0.042053867	0.04922	0.023930144	0.01176	0.042053867	0.04921	-3.955	0.23128	T	.	.	0.067	0.02342	B	.;.;.	.;.;.	0.725774	0.10947	7.615	0.63479345580044644	0.07235	0.05443	0.11319	N	AEFDGBCIJ	0.043950	0.07012	N	-1.35367538960084	0.03087	0.1373539	-1.37439322946947	0.03527	0.164699	0.999999630838242	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.58	-1.51	0.08207	0.491000	0.22128	0.734000	0.21109	-1.774000	0.00661	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3689:0.2961:0.2496:0.0853	2.796	0.05069	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1811.83	37	chr16	83994363	.	G	A	1811.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.074;DP=321;ExcessHet=0;FS=1.358;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.283;SOR=0.569	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	5	0	1	0
chr16	84009801	84009801	C	T	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon11:c.G1291A:p.V431I	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	740392	not_provided|SLC38A8-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00496750201394	0.0009	0.000798722	0.0003	0.0040	8.67e-05	0	0	0	0	0	0.0002975	46	154602	rs144862027	8.689e-05	8.756e-05	9.394e-05	7.976e-05	0.0030	7.421e-05	6.97e-05	0.0025	0.0023	0.0030	0.0001	0	0	0	0	8.094e-06	0.0002	2.319e-05	0.0009	0.0009	0.0010	0.0008	0.0029	0.0008	0.0007	0.0025	0.0023	0.0029	0	0.0005	0	0	0	0	1.47e-05	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.023	0.19966	B	0.936563	0.07568	N	1.033990	0.999926	0.19486	N	-0.12	0.04575	N	2.86	0.10482	T	0.12	0.05604	N	0.123	0.11483	-0.9522	0.40590	T	0.006	0.02018	T	10	0.007050246	0.00160	T	0.004968	0.12535	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.6672371914437919	0.66661	.	.	0.263106405735	0.05265	T	0.013402	0.11601	T	-0.757216	0.00016	T	-0.861938	0.00822	T	0.0101706568112219	0.00137	T	0.435056	0.11905	T	0.017527655	0.00280	0.021526147	0.00201	0.017527655	0.00280	0.021526147	0.00201	-0.631	0.00670	T	.	.	0.080	0.07937	B	.	.	-0.887311	0.00947	0.037	0.42396856105708086	0.03122	0.02263	0.06543	N	AEFDBI	0.059755	0.11308	N	-1.60267704862061	0.01251	0.05443294	-1.59277260480162	0.01699	0.07719582	0.0175892361682171	0.12967	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.92	-3.44	0.04493	-0.580000	0.05920	-5.682000	0.01632	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1278:0.3329:0.253:0.2863	1.440	0.02211	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	759.83	47	chr16	84009801	.	C	T	759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.558;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.74;SOR=0.668	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr16	84101767	84101767	A	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon2:c.T17C:p.I6T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1660957	MBTPS1-related_disorder|Spondyloepiphyseal_dysplasia,_kondo-fu_type|not_provided	.|MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00319489	0.0101	0.0008	0.0030	0	0.0361	0.0129	0.0177	0.0038	0.0092431	1429	154602	rs34701895	0.0093	0.0093	0.0093	0.0094	0.0177	0.0092	0.0091	0.0149	0.0139	0.0016	0.0049	0.0037	5.038e-05	0.0325	0.0177	0.0095	0.0089	0.0040	0.0095	0.0095	0.0090	0.0101	0.0127	0.0091	0.0089	0.0120	0.0117	0.0015	0.0241	0.0065	0.0026	0	0.0335	0.0102	0.0127	0.0071	0.0037	0.391	0.10802	T	0.312	0.19599	T	0.02	0.18235	B	0.018	0.18489	B	0.005113	0.33089	N	0.355612	0.830314	0.28768	N	1.1	0.28011	L	1.41	0.33412	T	-0.15	0.82341	N	0.138	0.13626	-1.0449	0.15854	T	0.024	0.10103	T	10	0.0053536	0.00117	T	.	.	.	0.014	0.01968	.	.	.	.	0.4517386798585098	0.45091	0.049455207647	0.05415	0.604184746742	0.53495	T	0.213298	0.57457	T	-0.530541	0.00381	T	-0.520582	0.20234	T	0.00792578813983689	0.00093	T	0.69753	0.30746	T	0.023626905	0.01118	0.0472831	0.06776	0.023548719	0.01103	0.0472831	0.06776	-3.553	0.17182	T	.	.	0.117	0.23709	B	.;.	.;.	1.985030	0.25217	16.68	0.85071971645797162	0.15668	0.89986	0.50819	D	AEFBI	0.280595	0.39438	N	-0.468875365613916	0.23106	1.23843	-0.253978555040062	0.29633	1.661854	0.998649430173461	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	2.62	0.30337	3.754000	0.54903	3.086000	0.36259	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.811:0.0:0.189:0.0	10.258	0.42586	702	0.57624	.;.	.	.	.	.	rs34701895	Likely benign	0	0	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	0.010574	0.005051	0.013587	0.011696	0.000000	0.017241	0.015244	0.003788	0.1667	1391.06	33	chr16	84101767	.	A	G	1391.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.093;DP=249;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.229;SOR=0.624	GT:AD:DP:GQ:PL	0/1:26,26:52:99:618,0,637	4	0	2	0
chr16	84177770	84177770	G	A	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon8:c.G1399A:p.G467R,DNAAF1:NM_178452:exon12:c.G2107A:p.G703R	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	255933	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_13	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0002	0.00938498	0.0042	9.623e-05	0.0003	0.0010	0	0.0002	0.0067	0.0291	0.0037516	580	154602	rs4150188	0.0018	0.0018	0.0011	0.0025	0.0272	0.0017	0.0017	0.0262	0.0259	0.0002	8.944e-05	0.0001	0.0003	1.875e-05	0.0040	0.0001	0.0020	0.0272	0.0011	0.0011	0.0006	0.0017	0.0311	0.0010	0.0009	0.0270	0.0255	0.0001	0	6.535e-05	0	0.0004	0	0.0034	0.0001	0	0.0311	0.003	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.006	0.12133	B	0.301164	0.03956	N	3.781080	1	0.08975	N	0.55	0.14455	N	1.45	0.32482	T	-0.45	0.24460	N	0.153	0.15749	-1.0502	0.14341	T	0.053	0.22384	T	10	0.0025303066	0.00038	T	.	.	.	0.010	0.01040	0.114	0.02306	0.115124310173	0.11017	0.0751827147738109	0.07454	0.169743795167	0.19140	0.248479753733	0.03609	T	0.003804	0.03212	T	-0.600267	0.00145	T	-0.614747	0.11603	T	0.034540676135439	0.02730	T	0.549445	0.18903	T	0.07639843	0.17274	0.116798595	0.28197	0.09556236	0.22492	0.13285275	0.31870	-4.119	0.25569	T	.	.	0.143	0.43074	B	.;.	.;.	0.547376	0.09157	5.942	0.97103890916455893	0.32379	0.00361	0.01848	N	ALL	0.040905	0.06148	N	-1.70614915211622	0.00820	0.03545778	-1.85196348320609	0.00607	0.02695437	0.99999999999999	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.322989	0.05693	1	.	.	2.81	-5.62	0.02284	-0.900000	0.04205	-4.635000	0.02058	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2573:0.5814:0.1613:0.0	8.903	0.34667	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.011364	0.08333	2085.83	39	chr16	84177770	.	G	A	2085.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.24;DP=384;ExcessHet=0;FS=4.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr16	84178991	84178991	C	T	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.G1564A:p.V522I,TAF1C:NM_001243157:exon12:c.G1564A:p.V522I,TAF1C:NM_001243160:exon12:c.G1129A:p.V377I,TAF1C:NM_001243159:exon14:c.G1333A:p.V445I,TAF1C:NM_005679:exon14:c.G2560A:p.V854I,TAF1C:NM_001243156:exon15:c.G2482A:p.V828I,TAF1C:NM_139353:exon15:c.G2278A:p.V760I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00832617299637	0.0019	0.00239617	0.0006	0.0064	0	0.0005	0	1.526e-05	0.0023	6.203e-05	0.0004722	73	154602	rs61753438	0.0002	0.0002	0.0002	0.0001	0.0052	0.0001	0.0001	0.0045	0.0043	0.0052	0.0001	0	0.0005	0	0	2.338e-05	0.0002	5.798e-05	0.0016	0.0016	0.0017	0.0015	0.0054	0.0015	0.0014	0.0048	0.0046	0.0054	0	0.0010	0	0.0002	0	0	1.47e-05	0.0014	0.0006	0.282	0.18184	T	0.47	0.12246	T	0.002	0.13644	B	0.002	0.10090	B	0.568174	0.05464	N	1.332190	1	0.08975	N	1.01	0.25309	L	3.63	0.04959	T	-0.16	0.09965	N	0.034	0.04188	-0.9223	0.45238	T	0.009	0.03011	T	10	0.0032909513	0.00056	T	0.008326	0.22055	T	0.001	0.00016	.	.	0.0762999501168	0.06990	0.04527355650433087	0.04471	.	.	0.32619407773	0.14359	T	0.001935	0.01346	T	-0.679334	0.00048	T	-0.746535	0.03623	T	0.000463537057282177	0.00004	T	0.359964	0.08281	T	0.02221676	0.00869	0.02491157	0.00520	0.02221676	0.00869	0.02491157	0.00520	-5.087	0.38850	T	.	.	0.076	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.323025	0.02517	0.299	0.76627140306086172	0.11544	0.02750	0.07434	N	AEFDBHCI	0.037178	0.05073	N	-1.40315954727484	0.02611	0.1155362	-1.4883961574456	0.02439	0.1121761	0.99999865190382	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.07	-3.41	0.04535	-2.049000	0.01493	-0.583000	0.08366	-0.890000	0.02392	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.137:0.5029:0.0:0.3601	5.303	0.15101	730	0.54327	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	344.83	38	chr16	84178991	.	C	T	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.671;DP=214;ExcessHet=0;FS=4.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.91;SOR=0.947	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	5	0	1	0
chr16	84179179	84179179	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C1376T:p.T459M,TAF1C:NM_001243157:exon12:c.C1376T:p.T459M,TAF1C:NM_001243160:exon12:c.C941T:p.T314M,TAF1C:NM_001243159:exon14:c.C1145T:p.T382M,TAF1C:NM_005679:exon14:c.C2372T:p.T791M,TAF1C:NM_001243156:exon15:c.C2294T:p.T765M,TAF1C:NM_139353:exon15:c.C2090T:p.T697M	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00599042	0.0022	0.0252	0.0005	0	0	4.555e-05	0	0.0002	0.0016041	248	154602	rs4150175	0.0006	0.0006	0.0006	0.0005	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0007	0	2.54e-05	0	0.0009	2.347e-05	0.0018	0.0002	0.0049	0.0050	0.0050	0.0048	0.0169	0.0046	0.0045	0.0159	0.0154	0.0169	0	0.0024	0	0	0	0	1.471e-05	0.0047	0.0006	0.248	0.17940	T	0.213	0.26549	T	0.0	0.02946	B	0.0	0.01387	B	0.012060	0.01325	N	2.621410	1	0.08975	N	0	0.06538	N	4.2	0.04544	T	-0.07	0.08033	N	0.061	0.09914	-0.9471	0.41465	T	0.002	0.00556	T	10	0.0024798512	0.00037	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.1611721386744272	0.16038	.	.	0.300989747047	0.10548	T	0.002431	0.01826	T	-0.660277	0.00063	T	-0.705624	0.05524	T	0.00308636912833371	0.00032	T	0.119488	0.00920	T	0.008186597	0.00000	0.01746894	0.00032	0.008186597	0.00000	0.01746894	0.00032	-5.792	0.44505	T	.	.	0.069	0.05668	B	.;.;.;.;.	.;.;.;.;.	0.061505	0.04723	1.355	0.89446480874650258	0.18803	0.03966	0.09375	N	AEFDBCI	0.056513	0.10453	N	-1.79192067559621	0.00565	0.02434294	-1.88752981214163	0.00518	0.02296762	0.999999999949143	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	-10.6	0.00212	-1.017000	0.03740	-0.717000	0.07722	-0.739000	0.03678	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1562:0.2823:0.4649:0.0967	4.86	0.12940	730	0.54327	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002559	0.000000	0.005479	0.000000	0.000000	0.008772	0.000000	0.000000	0.08333	639.83	38	chr16	84179179	.	G	A	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=247;ExcessHet=0;FS=5.585;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-2.78;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	5	0	1	0
chr16	84179605	84179605	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C950T:p.A317V,TAF1C:NM_001243157:exon12:c.C950T:p.A317V,TAF1C:NM_001243160:exon12:c.C515T:p.A172V,TAF1C:NM_001243159:exon14:c.C719T:p.A240V,TAF1C:NM_005679:exon14:c.C1946T:p.A649V,TAF1C:NM_001243156:exon15:c.C1868T:p.A623V,TAF1C:NM_139353:exon15:c.C1664T:p.A555V	.	395	1122	4	1	0	6	0.00266667	.	.	.	2817853	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.0147665743045	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0013	0.0024	0.0006	0.0008215	127	154602	rs139380627	0.0012	0.0012	0.0012	0.0012	0.0018	0.0012	0.0012	0.0014	0.0013	0.0001	0.0006	0.0015	0	5.71e-05	0.0018	0.0014	0.0011	0.0008	0.0012	0.0012	0.0012	0.0013	0.0038	0.0011	0.0010	0.0030	0.0027	0.0003	0	0.0038	0.0026	0	0	0.0068	0.0015	0.0019	0.0004	0.077	0.40068	T	0.053	0.54541	T	0.037	0.44108	B	0.012	0.41250	B	0.536896	0.05290	N	1.271510	1	0.08975	N	1.495	0.37439	L	3.6	0.05071	T	-1.19	0.30346	N	0.11	0.23380	-0.9637	0.38468	T	0.012	0.04605	T	10	0.00704208	0.00160	T	0.014767	0.35101	T	0.018	0.03083	.	.	0.156986980423	0.15292	0.12379529269135672	0.12305	.	.	0.255018651485	0.04315	T	0.007564	0.06959	T	-0.569409	0.00223	T	-0.615321	0.11556	T	0.0109394200561875	0.00157	T	0.665433	0.27458	T	0.03879356	0.05237	0.05869657	0.10888	0.03879356	0.05237	0.05869657	0.10888	-4.429	0.30665	T	.	.	0.086	0.16494	B	.;.;.;.;.	.;.;.;.;.	0.744823	0.11144	7.785	0.99575624112286032	0.72682	0.18124	0.20129	N	AEFDBCI	0.126936	0.24409	N	-0.863720242708867	0.11713	0.5668247	-0.907794979046585	0.11909	0.6096361	0.999989958459192	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.95	2.95	0.33285	2.457000	0.44662	1.652000	0.27851	-0.194000	0.09177	0.369000	0.25916	0.004000	0.18990	0.008000	0.08271	0.099:0.0:0.696:0.205	5.95	0.18476	735	0.53711	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	1678.06	46	chr16	84179605	.	G	A	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.437;DP=239;ExcessHet=0.4139;FS=1.833;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.05;SOR=0.836	GT:AD:DP:GQ:PL	0/1:17,32:49:99:958,0,422	4	0	2	0
chr16	84195266	84195266	G	C	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_139174:exon6:c.G950C:p.G317A	.	.	.	.	.	.	.	.	0.8124	0.496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0251517162454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.0	0.92824	D	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	2.27	0.17431	T	-1.25	0.31576	N	0.182	0.19728	-0.9702	0.37157	T	0.029	0.12453	T	8	0.06545046	0.08833	T	0.025152	0.48129	D	0.032	0.07718	0.56	0.67958	0.0611884634855	0.05136	0.466566792698256	0.46575	.	.	.	.	.	.	.	.	-0.310728	0.07685	T	-0.684116	0.06736	T	0.0775432912060761	0.09669	T	0.476852	0.14330	T	.	.	.	.	.	.	.	.	-5.118	0.38096	T	.	.	0.147	0.32469	B	.	.	1.194662	0.15865	12.16	0.59252846782644497	0.06181	0.05979	0.11940	N	AEFDBI	0.132534	0.25187	N	-1.04757968470659	0.07635	0.3553451	-1.13367629188423	0.07064	0.342262	0.999959827176862	0.48110	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.53	-1.76	0.07574	0.709000	0.25407	0.007000	0.13381	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1876:0.3064:0.3493:0.1567	1.565	0.02445	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	914.83	40	chr16	84195266	.	G	C	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.222;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	5	0	1	0
chr16	84195601	84195601	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon6:c.C956T:p.P319L,ADAD2:NM_139174:exon7:c.C1202T:p.P401L	.	429	1082	10	1	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	.	0.0002	0.00938498	0.0045	0	0.0004	0.0006	0	0.0001	0.0075	0.0364	0.0038421	594	154602	rs138702097	0.0019	0.0019	0.0011	0.0026	0.0278	0.0018	0.0018	0.0268	0.0265	0.0002	0.0014	0	0.0001	0	0.0040	0.0001	0.0020	0.0278	0.0016	0.0016	0.0010	0.0022	0.0310	0.0014	0.0014	0.0270	0.0254	9.659e-05	0	0.0051	0	0.0002	0	0.0034	0.0001	0	0.0310	0.079	0.33753	T	0.007	0.69154	D	0.611	0.39680	P	0.205	0.37080	B	0.071221	0.21488	N	0.506749	0.987869	0.40663	D	2.08	0.57402	M	-3.24	0.93474	D	-3.3	0.65858	D	0.382	0.42345	0.215	0.86167	D	0.683	0.89058	D	10	0.0048357546	0.00103	T	.	.	.	0.289	0.60808	.	.	0.873730468913	0.87250	0.36444147589905096	0.36358	.	.	0.474489361048	0.35298	T	0.340585	0.70959	T	-0.337413	0.05569	T	-0.236497	0.51139	T	0.0452165910714672	0.04641	T	0.748825	0.36981	T	0.12475506	0.29263	0.1409536	0.33583	0.12475506	0.29263	0.1409536	0.33582	-5.852	0.45842	T	.	.	0.088	0.11606	B	.;.	.;.	2.248522	0.28719	17.89	0.99543086491013555	0.70648	0.44137	0.27252	N	AEFDBI	0.114849	0.22607	N	-0.0916943527756573	0.37757	2.201245	-0.0587266269688578	0.37115	2.168842	0.999635300340022	0.41205	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	3.27	0.36580	-0.007000	0.12747	3.205000	0.36771	0.594000	0.32500	0.000000	0.06391	0.986000	0.30841	0.127000	0.19450	0.0:0.8265:0.0:0.1735	8.265	0.30971	754	0.51307	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	1912.83	40	chr16	84195601	.	C	T	1912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.851;DP=334;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.774;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	5	0	1	0
chr16	84236780	84236780	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon2:c.G706A:p.V236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0345620348679	0.0008	0.000399361	0.0003	0.0025	0.0004	0	0	4.57e-05	0	0.0002	0.0002587	40	154602	rs138891680	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0023	0.0021	0.0027	0.0004	0	2.519e-05	0	0.0021	6.565e-05	0.0005	0.0002	0.0009	0.0009	0.0009	0.0010	0.0026	0.0008	0.0007	0.0022	0.0021	0.0026	0.0110	0.0008	0	0	0	0	5.88e-05	0.0009	0.0004	0.808	0.06125	T	0.347	0.18449	T	0.167	0.30970	B	0.053	0.25678	B	0.007932	0.31115	N	0.327658	0.858968	0.28385	N	1.215	0.30540	L	-4.37	0.97343	D	0.03	0.07736	N	0.133	0.12913	-0.0335	0.81556	T	0.708	0.89954	D	10	0.012223482	0.00264	T	0.034562	0.55756	D	0.194	0.47447	.	.	0.522611632499	0.51906	0.3810512025514532	0.38020	0.0390815817227	0.04159	0.297465831041	0.10025	T	0.26476	0.63657	T	-0.358961	0.04189	T	-0.290189	0.45754	T	0.00516474160181022	0.00056	T	0.835916	0.55237	T	0.037784595	0.04910	0.03104677	0.01641	0.037784595	0.04909	0.03104677	0.01641	-4.715	0.33585	T	.	.	0.071	0.12607	B	.;.	.;.	1.680094	0.21411	15.19	0.9245255467406297	0.21877	0.12673	0.17411	N	AEFDBI	0.082549	0.16716	N	-0.761463508671597	0.14323	0.7125814	-0.637524322857128	0.18532	0.9904083	0.0138572306135983	0.12519	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.11	3.14	0.35196	0.243000	0.17880	2.122000	0.30726	-0.300000	0.06199	0.022000	0.19841	0.974000	0.29927	0.471000	0.28363	0.0:0.6926:0.0:0.3074	8.716	0.33569	867	0.32089	Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	965.83	66	chr16	84236780	.	C	T	965.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=282;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.075;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1348:.	5	0	1	0
chr16	84368652	84368652	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001286527:exon1:c.C37T:p.L13F,ATP2C2:NM_014861:exon1:c.C37T:p.L13F	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	.	.	0.00199681	0.0069	0	0.0013	0	0	0.0001	0.0044	0.0177	0.0014424	223	154602	rs571442439	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0126	0.0123	3.328e-05	2.587e-05	3.989e-05	2.856e-05	0	0.0005	2.664e-05	0.0008	0.0133	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	6.533e-05	0	0	0	0	1.471e-05	0	0.0139	0.224	0.29823	T	0.51	0.20164	T	0.335	0.33330	B	0.08	0.28873	B	0.000001	0.00162	N	110.233000	0.987611	0.24498	N	0.625	0.15840	N	-3.19	0.93352	D	-0.92	0.24676	N	0.239	0.26957	-0.2378	0.76683	T	0.603	0.85877	D	10	0.004642248	0.00097	T	.	.	.	0.334	0.65620	0.345	0.33950	0.682531388322	0.67982	0.2050756700441414	0.20424	.	.	0.436814337969	0.30141	T	0.008746	0.08010	T	-0.250765	0.14005	T	-0.121306	0.61695	T	0.0697248160851876	0.08612	T	0.659534	0.26859	T	0.2942167	0.52381	0.39129353	0.63903	0.2942167	0.52381	0.39129353	0.63903	-5.066	0.37548	T	.	.	0.064	0.04847	B	.;.	.;.	1.769751	0.22508	15.65	0.96787542588481734	0.31098	0.44541	0.27341	N	AEFDBHCI	0.061652	0.11802	N	-0.459986949836449	0.23403	1.256511	-0.393386725710694	0.25193	1.384009	0.999999985590619	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.3	4.3	0.50540	0.492000	0.22144	0.948000	0.22902	0.599000	0.40250	0.927000	0.32177	0.991000	0.31484	0.021000	0.11733	0.0:1.0:0.0:0.0	12.132	0.53251	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002591	0.000000	0.002740	0.000000	0.000000	0.000000	0.006452	0.003846	0.08333	459.83	37	chr16	84368652	.	C	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.539;DP=187;ExcessHet=0;FS=3.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=2.41;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,992	5	0	1	0
chr16	84479972	84479972	C	G	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon8:c.G1312C:p.E438Q	.	422	1096	4	0	0	4	0.00182149	.	.	.	3285330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0175688754395	0.0003	.	0.0003	0	0.0003	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs146720539	0.0004	0.0004	0.0004	0.0004	0.0056	0.0004	0.0004	0.0041	0.0035	8.998e-05	0.0003	0	0	0	0.0056	0.0004	0.0006	0.0004	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	9.619e-05	0	0.0002	0	0	0	0.0068	0.0002	0	0.0004	0.0	0.91255	D	0.011	0.64786	D	0.98	0.59353	D	0.889	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	2.6	0.13204	T	-2.14	0.48523	N	0.75	0.74918	-0.9340	0.43545	T	0.128	0.43544	T	10	0.6302649	0.68476	D	0.017569	0.39321	T	0.294	0.61388	.	.	0.270001397563	0.26616	0.6501162151369393	0.64947	0.00580428059586	0.00509	0.464512676001	0.33928	T	0.034626	0.23397	T	-0.204806	0.20115	T	-0.195707	0.55053	T	0.166412875056267	0.18332	T	0.856914	0.54589	D	0.4889729	0.66441	0.4345525	0.66971	0.4889729	0.66442	0.4345525	0.66971	-7.156	0.55165	T	.	.	0.150	0.33133	B	.	.	3.998649	0.58906	24.0	0.99855813116979286	0.93458	0.99507	0.96863	D	AEFDBI	0.758025	0.69680	D	0.675035616184508	0.77995	6.78356	0.599505843117346	0.74903	6.21724	0.999999999991414	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.75	4.75	0.59954	7.028000	0.76204	3.840000	0.40037	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:1.0:0.0:0.0	17.620	0.87981	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	212.83	30	chr16	84479972	.	C	G	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.319;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1185	5	0	1	0
chr16	84745437	84745437	G	A	exonic	USP10	.	nonsynonymous SNV	USP10:NM_005153:exon4:c.G956A:p.S319N,USP10:NM_001272075:exon5:c.G968A:p.S323N	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0090	0.0141773	0.0031	0.0369	0.0012	0	0	4.539e-05	0.0011	6.136e-05	0.0029819	461	154602	rs115881577	0.0010	0.0010	0.0011	0.0009	0.0359	0.0010	0.0010	0.0342	0.0335	0.0359	0.0015	0	0	0	0.0028	4.408e-05	0.0024	0.0002	0.0093	0.0093	0.0099	0.0087	0.0318	0.0089	0.0087	0.0304	0.0298	0.0318	0	0.0043	0	0	0	0	0.0001	0.0066	0.0004	0.32	0.15303	T	0.474	0.12211	T	0.001	0.09854	B	0.001	0.08700	B	0.000000	0.00162	N	7739.210000	0.999999	0.08975	N	1.79	0.46772	L	3.19	0.07353	T	-0.89	0.24026	N	0.041	0.03502	-0.9871	0.33323	T	0.002	0.00646	T	10	0.0021843016	0.00031	T	.	.	.	0.146	0.38789	.	.	0.23798241625	0.23396	0.0864347102999874	0.08577	0.0516791353722	0.05686	0.281554877758	0.07710	T	0.006949	0.06374	T	-0.728439	0.00024	T	-0.791968	0.02111	T	0.006144834147248	0.00068	T	0.50395	0.15873	T	0.05027915	0.09058	0.06656797	0.13653	0.05027915	0.09058	0.06656797	0.13653	-4.937	0.36148	T	.	.	0.061	0.01271	B	.;.	.;.	0.670501	0.10390	7.114	0.22407632159000687	0.00900	0.24268	0.22340	N	AEFDBI	0.132680	0.25208	N	-1.21764333929878	0.04744	0.2147574	-1.19212474536738	0.06040	0.2895809	0.999737260294031	0.42341	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.24	1.81	0.24139	1.308000	0.33133	1.407000	0.26247	-0.879000	0.02478	0.166000	0.23880	0.109000	0.22772	0.001000	0.02609	0.4704:0.0:0.5296:0.0	7.169	0.24883	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003950	0.000000	0.006831	0.008696	0.000000	0.000000	0.000000	0.000000	0.08333	713.83	55	chr16	84745437	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=364;ExcessHet=0;FS=3.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.617;SOR=1.095	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	5	0	1	0
chr16	85100179	85100179	G	C	exonic	CIBAR2	.	nonsynonymous SNV	CIBAR2:NM_001366920:exon7:c.C713G:p.T238S,CIBAR2:NM_198491:exon7:c.C713G:p.T238S	.	.	.	.	.	.	.	.	.	.	.	3191759	CIBAR2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0107	0.0071885	0.0028	0.0305	0.0014	0	0	4.877e-05	0	6.805e-05	0.002445	378	154602	rs148969047	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0008	0.0279	0.0273	0.0295	0.0012	0	0	0	0.0009	2.52e-05	0.0017	9.374e-05	0.0080	0.0080	0.0086	0.0073	0.0282	0.0076	0.0074	0.0269	0.0263	0.0282	0	0.0021	0	0	0	0	5.879e-05	0.0024	0	0.404	0.10345	T	0.366	0.17804	T	0.151	0.28027	B	0.096	0.30313	B	0.008325	0.30897	N	0.225343	1	0.08975	N	0.85	0.21244	L	1.53	0.30401	T	-0.01	0.07155	N	0.179	0.20395	-1.0414	0.16890	T	0.021	0.08639	T	10	0.0036479533	0.00067	T	.	.	.	0.020	0.03691	0.249	0.18602	0.136095386433	0.13204	0.05684428262316063	0.05625	0.0342553097307	0.03602	0.280273079872	0.07530	T	0.003437	0.02839	T	-0.661931	0.00061	T	-0.703322	0.05646	T	0.00147234454439024	0.00015	T	0.250275	0.03772	T	0.024538515	0.01295	0.025767382	0.00633	0.024538515	0.01295	0.025767382	0.00633	-2.458	0.05501	T	.	.	0.085	0.10304	B	.;.	.;.	-0.054991	0.03919	0.866	0.50883983924186948	0.04463	0.08396	0.14331	N	AEFI	0.066984	0.13144	N	-1.0296470291278	0.07993	0.373222	-1.07644993168776	0.08165	0.4002939	0.0194499312355295	0.13163	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.567892	0.33627	0	.	.	4.82	1.67	0.23149	1.154000	0.31299	1.336000	0.25703	-0.184000	0.09925	0.016000	0.19238	0.003000	0.18671	0.001000	0.02609	0.0948:0.3375:0.5678:0.0	6.932	0.23626	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	604.83	37	chr16	85100179	.	G	C	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.109;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.886;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1249	5	0	1	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.1667	2472.06	34	chr16	85918797	.	T	G	2472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.099;DP=360;ExcessHet=0.4139;FS=3.069;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.775;SOR=0.909	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1344,0,1162	4	0	2	0
chr16	87690273	87690273	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1913C:p.G638A	Huntington disease-like 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	3691444	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00391759828757	.	.	0.0002	0.0016	0.0005	0	0	0	0	0	8.41e-05	13	154602	rs781608423	3.794e-05	3.762e-05	4.386e-05	3.193e-05	0.0009	2.984e-05	2.678e-05	0.0006	0.0005	0.0009	0.0003	0	0	0	0.0002	0	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0003	0	0	0	0	0	0.0014	0.0002	0.006	0.61437	D	0.667	0.06365	T	0.001	0.07471	B	0.002	0.06944	B	0.000114	0.50451	D	0.172186	0.722995	0.29904	N	1.78	0.46185	L	0.77	0.49642	T	-0.64	0.18670	N	0.161	0.16864	-1.0061	0.28126	T	0.059	0.24686	T	10	0.029916406	0.01118	T	0.003918	0.09242	T	0.067	0.19503	.	.	0.358048530964	0.35414	0.1540002527811086	0.15322	0.146840818826	0.16573	0.553863584995	0.46403	T	0.197182	0.55378	T	-0.51112	0.00495	T	-0.588748	0.13775	T	0.0365321436647288	0.03074	T	0.740726	0.35986	T	0.07183586	0.15934	0.054107994	0.09244	0.07183586	0.15933	0.054107994	0.09243	-3.841	0.21418	T	.	.	0.071	0.03887	B	.	.	1.855956	0.23579	16.07	0.68460953472950103	0.08665	0.94209	0.60445	D	AEFDBCI	0.436284	0.49657	N	-0.891899820916785	0.11034	0.5303568	-0.803718067678055	0.14405	0.7525247	0.944775920552248	0.27631	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.42	2.42	0.28720	5.369000	0.65892	4.681000	0.44321	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.1817:0.17:0.6483:0.0	5.286	0.15010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	882.83	38	chr16	87690273	.	G	C	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=251;ExcessHet=0;FS=2.089;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.276;SOR=1.002	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr16	88435081	88435081	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G7611C:p.E2537D	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	426187	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00219649	0.0012	0.0107	0	0	0	0	0	0	0.0003105	48	154602	rs199519673	0.0003	0.0003	0.0004	0.0003	0.0110	0.0003	0.0003	0.0101	0.0097	0.0110	0.0008	0	0	0	0.0014	5.561e-06	0.0007	0	0.0026	0.0026	0.0026	0.0026	0.0093	0.0024	0.0023	0.0085	0.0082	0.0093	0	0.0007	0	0	0	0	2.939e-05	0.0014	0	0.341	0.12673	T	0.411	0.14500	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.47	0.15178	N	0.033	0.02462	-1.0558	0.12829	T	0.032	0.13942	T	9	0.00340724	0.00060	T	.	.	.	0.025	0.05312	0.127	0.03251	0.0401082797425	0.02173	0.019042035614484077	0.01858	.	.	0.271938741207	0.06395	T	0.022415	0.17287	T	-0.606962	0.00132	T	-0.637671	0.09840	T	0.00492828635800772	0.00053	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28636	B	.;.	.;.	0.585983	0.09544	6.320	0.9237451245034094	0.21781	0.09932	0.15573	N	AEFGBI	0.088767	0.17994	N	-1.08886270155438	0.06848	0.3163875	-1.12006549246925	0.07317	0.3554576	0.397239598142786	0.20099	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.41	1.84	0.24348	0.215000	0.17352	0.530000	0.19240	-0.244000	0.07312	0.073000	0.22155	0.033000	0.21346	0.065000	0.16320	0.1381:0.1677:0.5223:0.1718	2.378	0.04081	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001272	0.006250	0.006667	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	830.83	88	chr16	88435081	.	G	C	830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.101;DP=436;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.47;SOR=0.627	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	5	0	1	0
chr16	88435851	88435851	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C8381T:p.T2794M	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	426188	Brittle_cornea_syndrome_1|not_provided|Cardiovascular_phenotype|ZNF469-related_disorder	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	0.53830230883	0.0026	0.00219649	0.0011	0.0093	0	0	0	0.0003	0	0	0.0003234	50	154602	rs202188220	0.0003	0.0003	0.0003	0.0003	0.0100	0.0003	0.0003	0.0091	0.0087	0.0100	0.0007	0.0011	2.798e-05	0	0.0014	1.205e-05	0.0006	2.524e-05	0.0025	0.0025	0.0025	0.0024	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0007	0.0020	0	0	0	2.941e-05	0.0014	0	0.082	0.33254	T	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.37	0.13226	N	0.139	0.13769	-0.9572	0.39699	T	0.004	0.01295	T	9	0.009048462	0.00205	T	0.538302	0.95689	D	0.109	0.30843	.	.	0.0482279557977	0.04254	0.08355281837578195	0.08289	.	.	0.250249028206	0.03794	T	0.007369	0.06780	T	-0.683249	0.00046	T	-0.748102	0.03560	T	0.00964435850438861	0.00125	T	0.281572	0.04927	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.12750	B	.;.	.;.	-0.027723	0.04094	0.962	0.2215879307183197	0.00878	0.01524	0.05024	N	AEFDBI	0.028208	0.02443	N	-1.09023769524081	0.06821	0.3151432	-1.24111632293756	0.05264	0.2503919	0.659728148257688	0.22257	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	3.4	-2.65	0.05739	-1.815000	0.01816	-1.527000	0.05240	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3146:0.2187:0.1292:0.3376	0.296	0.00246	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001044	0.006024	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	124	chr16	88435851	.	C	T	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.766;DP=490;ExcessHet=0;FS=7.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.08;SOR=1.035	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	5	0	1	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	183.06	140	chr16	88436039	.	G	C	183.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.655;DP=559;ExcessHet=0.4139;FS=169.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.77;SOR=8.662	GT:AD:DP:GQ:PL	0/0:72,0:72:59:0,59,1450	4	0	2	0
chr16	88533793	88533793	C	T	exonic	ZFPM1	.	nonsynonymous SNV	ZFPM1:NM_153813:exon10:c.C1835T:p.A612V	.	429	1090	3	0	0	3	0.00137426	.	.	.	2676420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0879970833188	9e-05	.	0.0001	0	0.0007	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs373172156	5.648e-05	6.43e-05	4.037e-05	7.329e-05	0.0014	4.511e-05	4.1e-05	0.0005	0.0003	0	0.0009	0	0	0	0.0014	3.267e-05	0.0002	0.0002	6.173e-05	5.96e-05	4.005e-05	8.463e-05	0.0002	3.199e-05	2.398e-05	2.019e-05	1.156e-05	0	0	6.782e-05	0.0003	0	0	0	6.083e-05	0.0010	0.0002	0.121	0.27783	T	0.26	0.23029	T	0.013	0.16609	B	0.002	0.06944	B	0.000534	0.00629	N	10.709100	1	0.08975	N	0	0.06538	N	3.09	0.08371	T	-1.14	0.29323	N	0.058	0.02964	-0.9860	0.33590	T	0.013	0.05033	T	10	0.02576688	0.00761	T	0.087997	0.75047	D	0.016	0.02506	.	.	0.206339911435	0.20273	0.23171379449755183	0.23086	0.217854078565	0.24320	0.864568352699	0.91783	D	0.18482	0.53759	T	-0.663281	0.00060	T	-0.766067	0.02900	T	0.0472703717707136	0.05014	T	0.446455	0.12522	T	0.0433859	0.06752	0.06693054	0.13778	0.0433859	0.06751	0.06693054	0.13778	-7.671	0.58806	D	.	.	0.084	0.09627	B	.	.	1.581648	0.20241	14.65	0.99160840727990385	0.54099	0.01600	0.05192	N	AEFDGBCIJ	0.079027	0.15956	N	-1.24040970005538	0.04427	0.199786	-1.28298487233095	0.04660	0.220333	0.999909275274477	0.45458	0.600919	0.35232	0	0.596877	0.49441	0	0.166054	0.03999	2	0.56751	0.32155	0	.	.	3.05	-0.768	0.10458	-0.264000	0.08683	-0.281000	0.10269	-0.497000	0.05030	0.000000	0.06391	0.000000	0.08366	0.270000	0.23768	0.1961:0.4002:0.0:0.4037	2.933	0.05451	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	525.83	46	chr16	88533793	.	C	T	525.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.601;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.318;SOR=0.569	GT:AD:DP:GQ:PL	0/0:19,0:19:45:0,45,675	5	0	1	0
chr16	88577547	88577547	G	A	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.G424A:p.V142I,ZC3H18:NM_144604:exon2:c.G424A:p.V142I	.	416	1102	3	1	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00946955031183	0.0002	0.000399361	0.0003	0	0.0004	0.0006	0	0.0003	0.0012	0.0001	0.0002911	45	154602	rs150103777	0.0003	0.0003	0.0003	0.0003	0.0044	0.0003	0.0003	0.0030	0.0026	0.0005	0.0007	0	0.0002	0	0.0044	0.0003	0.0006	0.0002	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0006	0	0.0034	0.0003	0.0014	0	0.24	0.28646	T	0.195	0.28032	T	0.165	0.28508	B	0.024	0.20255	B	0.953339	0.08272	N	0.979822	1	0.08975	N	0.345	0.11182	N	1.56	0.30401	T	-0.24	0.11547	N	0.047	0.01911	-1.0131	0.25943	T	0.036	0.15465	T	10	0.0104650855	0.00233	T	0.00947	0.24809	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.009428503997717533	0.00905	0.0174218707181	0.01692	0.307835757732	0.11579	T	0.03164	0.22134	T	-0.631773	0.00093	T	-0.746395	0.03628	T	0.0110759496282871	0.00161	T	0.751525	0.44511	T	0.015355482	0.00134	0.023681344	0.00381	0.015355482	0.00134	0.023681344	0.00381	-6.108	0.47174	T	.	.	0.078	0.07083	B	.;.	.;.	1.779648	0.22627	15.70	0.97799465001314945	0.36052	0.33500	0.24843	N	AEFBCI	0.078293	0.15793	N	-0.866665601223669	0.11642	0.5629426	-0.840534920185989	0.13515	0.7015234	0.999992338771867	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.48	1.29	0.20717	1.995000	0.40386	0.768000	0.21372	-0.106000	0.15538	0.020000	0.19661	0.000000	0.08366	0.056000	0.15673	0.1945:0.226:0.5796:0.0	7.172	0.24901	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006054	0.015152	0.006793	0.005848	0.000000	0.000000	0.006173	0.003788	0.08333	1730.83	117	chr16	88577547	.	G	A	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.153;SOR=0.714	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr16	88719920	88719920	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon43:c.G6205A:p.V2069M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	428	1083	9	2	0	13	0.00596604	.	.	.	799967	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.184	0.115519472277	0.0011	.	0.0012	0.0009	0	0	0	0.0021	0.0056	0.0004	0.0002135	33	154602	rs199752762	0.0006	0.0006	0.0006	0.0006	0.0077	0.0006	0.0005	0.0059	0.0053	0.0005	0.0011	0.0090	0	0	0.0077	0.0004	0.0013	0.0005	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0007	0.0005	0.0002	0	0.0010	0.0069	0	0	0.0204	0.0005	0.0019	0.0004	0.004	0.65419	D	0.003	0.76473	D	0.919	0.50927	P	0.338	0.42306	B	0.000000	0.84330	D	0.000000	0.998448	0.44926	D	1.32	0.33002	L	1.47	0.31987	T	-2.7	0.57599	D	0.716	0.71854	-0.9889	0.32878	T	0.108	0.39246	T	9	0.0132112205	0.00281	T	0.115519	0.79472	D	0.195	0.47612	.	.	0.110392049598	0.10638	0.5887971450332024	0.58809	.	.	0.84056186676	0.88179	D	0.113814	0.43114	T	-0.333173	0.05874	T	-0.307704	0.43906	T	0.0377087710878733	0.03281	T	0.966803	0.87909	D	0.40434894	0.61032	0.36538547	0.61888	0.40434894	0.61032	0.36538547	0.61888	-7.949	0.60721	D	0.4864108922574664	0.56411	0.388	0.58913	A	.	.	4.393139	0.67818	25.1	0.99714505743944926	0.81563	0.95146	0.63607	D	AEFBCI	0.826402	0.74590	D	0.464592473955914	0.65036	4.77216	0.497333932460259	0.67811	5.134536	0.999999981131242	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	5.884000	0.69473	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	19.888	0.96918	884	0.28482	.	.	.	.	.	.	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	0.005760	0.010870	0.006410	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	1455.83	114	chr16	88719920	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.69;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	5	0	1	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	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	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.1667	1254.06	43	chr16	88736210	.	C	T	1254.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.38;DP=258;ExcessHet=0.4139;FS=0.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.6;SOR=0.588	GT:AD:DP:GQ:PL	0/1:19,27:46:99:785,0,444	4	0	2	0
chr16	88863762	88863762	C	T	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001294328:exon8:c.G743A:p.R248H,PABPN1L:NM_001385709:exon8:c.G724A:p.V242I	.	401	1118	3	0	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.007418603037	.	.	7.685e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs754129649	6.938e-05	6.704e-05	5.136e-05	8.788e-05	0.0007	5.805e-05	5.395e-05	0.0004	0.0004	6.33e-05	2.802e-05	0	0	0	0.0007	3.615e-05	6.908e-05	0.0006	7.226e-05	7.223e-05	7.706e-05	6.724e-05	0.0006	3.97e-05	3.127e-05	0.0002	8.981e-05	4.824e-05	0	6.54e-05	0	0	9.411e-05	0	5.88e-05	0	0.0006	0.0	0.91255	D	0.059	0.45961	T	0.998	0.73220	D	0.801	0.58220	P	.	.	.	.	1	0.19781	N	.	.	.	.	.	.	-1.99	0.45949	N	0.102	0.08506	-1.0244	0.22279	T	0.061	0.25455	T	7	0.0610677	0.07599	T	0.007419	0.19685	T	0.121	0.33580	0.454	0.51775	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.270658	0.11684	T	-0.270181	0.47801	T	0.0322419626470799	0.02345	T	0.424958	0.11391	T	.	.	.	.	.	.	.	.	-4.135	0.25804	T	.	.	0.088	0.11510	B	.	.	-0.483253	0.01921	0.161	0.79017397360053321	0.12553	0.00804	0.03270	N	AEFBCI	0.016906	0.00409	N	-1.57143446848086	0.01413	0.0616215	-1.75861341519035	0.00901	0.04029479	0.999917649973834	0.45857	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.21	-8.42	0.00836	-2.910000	0.00766	-11.403000	0.00608	-0.319000	0.05888	0.006000	0.17386	0.000000	0.08366	0.051000	0.15275	0.0864:0.094:0.2737:0.546	5.225	0.14712	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1364.06	35	chr16	88863762	.	C	T	1364.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.61;DP=269;ExcessHet=0.4139;FS=4.227;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.75;SOR=0.87	GT:AD:DP:GQ:PL	0/1:36,33:69:99:719,0,851	4	0	2	0
chr16	88866361	88866361	C	G	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.G246C:p.L82F,PABPN1L:NM_001294328:exon3:c.G246C:p.L82F,PABPN1L:NM_001385709:exon3:c.G246C:p.L82F	.	377	1130	15	0	0	15	0.00659341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0067	0.00678914	0.0079	0.0023	0.0101	0	0	0.0148	0.0109	0.0023	0.0031436	486	154602	rs146771138	0.0098	0.0094	0.0097	0.0098	0.0223	0.0096	0.0096	0.0191	0.0179	0.0024	0.0133	0.0142	2.798e-05	0.0072	0.0223	0.0106	0.0105	0.0025	0.0096	0.0096	0.0098	0.0095	0.0146	0.0092	0.0090	0.0136	0.0133	0.0024	0	0.0146	0.0138	0.0002	0.0072	0.0306	0.0143	0.0114	0.0019	0.405	0.10311	T	0.668	0.06386	T	0.01	0.50336	B	0.008	0.42432	B	0.253097	0.03659	N	1.539410	1	0.08975	N	0	0.06538	N	2.7	0.12162	T	-1.15	0.30555	N	0.051	0.03613	-1.0313	0.20034	T	0.006	0.02206	T	10	0.004073918	0.00080	T	.	.	.	0.019	0.03383	0.142	0.04556	0.0401082797425	0.02173	0.07926362312666765	0.07861	0.00999591242172	0.00916	0.277724415064	0.07177	T	0.008757	0.08018	T	-0.711087	0.00031	T	-0.777947	0.02516	T	0.00569000085141165	0.00062	T	0.152385	0.03851	T	0.04209838	0.06321	0.04503431	0.05971	0.04209838	0.06321	0.04503431	0.05971	-5.191	0.41568	T	.	.	0.099	0.23952	B	.;.;.	.;.;.	-0.354339	0.02388	0.265	0.51160133314860212	0.04513	0.01813	0.05646	N	AEFDGBI	0.111747	0.22114	N	-1.77571958482515	0.00607	0.02617288	-1.92697036149558	0.00433	0.01914093	0.9999656905403	0.48965	0.580535	0.33130	0	0.759151	0.99529	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.68	-9.36	0.00533	-2.326000	0.01195	-4.577000	0.02086	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1883:0.5072:0.1893:0.1152	5.089	0.14031	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013158	0.041237	0.011673	0.000000	0.000000	0.025000	0.014815	0.004950	0.25	2326.03	54	chr16	88866361	.	C	G	2326.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.506;DP=285;ExcessHet=1.383;FS=2.708;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.02;SOR=0.51	GT:AD:DP:GQ:PL	0/1:22,36:58:99:946,0,572	3	0	3	0
chr16	89100902	89100902	G	A	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001127214:exon2:c.G221A:p.R74H,ACSF3:NM_001243279:exon3:c.G221A:p.R74H,ACSF3:NM_174917:exon3:c.G221A:p.R74H	Combined malonic and methylmalonic aciduria	.	.	.	.	.	.	.	.	.	.	1516884	Combined_malonic_and_methylmalonic_acidemia	MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.00781185921633	.	.	2.499e-05	0	8.663e-05	0	0	1.52e-05	0	6.058e-05	1.94e-05	3	154602	rs750707295	1.369e-05	1.436e-05	1.225e-05	1.513e-05	5.038e-05	8.94e-06	7.27e-06	8.35e-06	3.88e-06	0	0	0	5.038e-05	1.888e-05	0	9.892e-06	6.623e-05	2.319e-05	1.313e-05	1.313e-05	2.568e-05	0	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.181	0.21884	T	0.149	0.32568	T	0.259	0.31472	B	0.053	0.25678	B	0.105893	0.19638	N	0.581596	1	0.18878	N	2.125	0.59049	M	0.75	0.50192	T	-2.03	0.51319	N	0.107	0.09207	-1.0231	0.22704	T	0.081	0.31972	T	10	0.28803486	0.46385	T	0.007812	0.20720	T	0.113	0.31778	0.723	0.85761	0.256793551483	0.25290	0.3981575677907402	0.39730	0.0531681059667	0.05860	0.213510602713	0.00969	T	0.106774	0.42268	T	-0.351906	0.04607	T	-0.561118	0.16273	T	0.14703044295311	0.16865	T	0.852615	0.53799	D	0.11501098	0.27146	0.08540166	0.19717	0.11501098	0.27146	0.08540166	0.19717	-7.737	0.59264	D	0.11277730036427724	0.09795	0.079	0.16973	B	.;.;.;.	.;.;.;.	2.023715	0.25718	16.86	0.99120273807788983	0.52958	0.10567	0.16038	N	AEFDBI	0.078288	0.15793	N	-0.780329426501693	0.13823	0.6838199	-0.806026592666324	0.14350	0.7493161	0.951270213963798	0.27947	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	5.26	-0.2	0.12567	0.204000	0.17133	0.351000	0.17477	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.241000	0.23027	0.4306:0.0:0.5694:0.0	10.201	0.42263	900	0.24599	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	724.83	75	chr16	89100902	.	G	A	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.756;DP=410;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.519;SOR=0.634	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	5	0	1	0
chr16	89738666	89738666	C	T	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon43:c.G4303A:p.A1435T	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401897	Fanconi_anemia|Fanconi_anemia_complementation_group_A|FANCA-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.341	0.0935076874281	0.0021	0.00159744	0.0006	0.0067	0.0002	0	0	3.05e-05	0	0	0.0005563	86	154602	rs74977201	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	6.708e-05	0	0	0	0	1.619e-05	0.0004	4.64e-05	0.0016	0.0016	0.0018	0.0015	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0003	0	0	0	0	1.471e-05	0.0014	0	0.097	0.32296	T	0.124	0.92824	T	1.0	0.90584	D	0.945	0.68163	D	0.000010	0.62929	D	0.000000	0.940033	0.81001	D	2.67	0.78151	M	-2.17	0.86624	D	-2.18	0.66325	N	0.271	0.30687	0.356	0.88424	D	0.658	0.88129	D	10	0.009534687	0.00215	T	0.093508	0.76086	D	0.341	0.66297	.	.	0.904755610982	0.90380	0.38304136491002155	0.38219	.	.	0.350126087666	0.17940	T	0.216051	0.57811	T	-0.23734	0.15689	T	-0.111364	0.62503	T	0.0424857242516685	0.04143	T	0.666633	0.29327	T	0.10011333	0.23634	0.14011632	0.33410	0.09844657	0.23221	0.1438917	0.34180	-6.077	0.46919	T	.	.	0.114	0.43213	B	.;.	.;.	2.748881	0.36028	20.1	0.99892745310805076	0.96666	0.95581	0.65294	D	AEFDBHCI	0.168110	0.29484	N	0.484559747137541	0.66187	4.91794	0.409207339228958	0.62139	4.42428	0.999999167165018	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.4	5.4	0.77957	1.671000	0.37129	1.773000	0.28651	0.599000	0.40250	0.904000	0.31524	0.926000	0.28431	0.038000	0.14061	0.0:0.9164:0.0:0.0836	11.766	0.51202	698	0.58074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1423.83	34	chr16	89738666	.	C	T	1423.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.405;DP=266;ExcessHet=0;FS=4.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.738;SOR=0.3	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	5	0	1	0
chr16	89919895	89919895	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C637T:p.R213W	.	0	1518	4	0	0	4	0.00131579	.	.	.	343073	Tyrosinase-positive_oculocutaneous_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.027755446482	0.0005	0.000798722	0.0003	0.0004	0.0002	0	0	0.0005	0.0011	0.0002	0.0003299	51	154602	rs200000734	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0.0004	3.831e-05	0	2.128e-05	0.0005	0.0005	0.0005	0.0001	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0009	0.0154	0.0008	0	0	9.414e-05	0.0068	0.0006	0.0005	0	0.004	0.91255	D	0.01	0.83351	D	0.019	0.17989	B	0.047	0.24832	B	0.295046	0.14699	U	0.498399	0.824017	0.28846	N	2.87	0.83286	M	1.15	0.38236	T	-1.34	0.33401	N	0.444	0.48227	-0.9495	0.41058	T	0.119	0.41713	T	9	0.018007338	0.00388	T	0.027755	0.50530	D	0.149	0.39377	.	.	0.724249103782	0.72181	0.6477777833167938	0.64712	0.0187430441396	0.01823	.	.	.	0.321102	0.69223	T	-0.31512	0.07305	T	-0.331843	0.41263	T	0.0730260696132213	0.09069	T	0.805419	0.45479	T	0.20714551	0.42911	0.24822746	0.50369	0.20714551	0.42911	0.24822746	0.50368	-7.883	0.60270	D	0.6428663167216301	0.71384	0.149	0.32969	B	.;.;.;.	.;.;.;.	3.296614	0.45235	22.1	0.99691304329774044	0.79977	0.78157	0.38519	D	AEFDBHCI	0.691242	0.65131	D	-0.426581096316887	0.24541	1.325827	-0.416952840947091	0.24500	1.34191	0.999999999979111	0.74766	0.764865	0.99124	0	0.610034	0.51514	0	0.731555	0.93304	0	0.664235	0.64389	0	.	.	4.67	2.65	0.30588	1.290000	0.32925	2.547000	0.33245	-0.236000	0.07595	0.974000	0.34632	0.874000	0.27626	0.000000	0.00833	0.2996:0.7004:0.0:0.0	12.654	0.56142	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1075.83	38	chr16	89919895	.	C	T	1075.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=272;ExcessHet=0;FS=3.312;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-1.104;SOR=1.015	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	5	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	35	chr17	413815	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=185;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,718:.	4	0	1	1
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	33	chr17	413822	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=179;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,718:.	4	0	1	1
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	35	chr17	413824	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=182;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:72:.:.:0,72,718:.	4	0	1	1
chr17	1496787	1496787	G	C	exonic	INPP5K	.	nonsynonymous SNV	INPP5K:NM_016532:exon9:c.C980G:p.S327C,INPP5K:NM_130766:exon10:c.C752G:p.S251C,INPP5K:NM_001135642:exon11:c.C752G:p.S251C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.412300689621	.	0.000199681	9.364e-05	0	0.0002	0	0	0.0001	0	0	7.76e-05	12	154602	rs148663737	2.6e-05	2.599e-05	2.45e-05	2.75e-05	0.0005	1.932e-05	1.692e-05	0.0001	7.541e-05	0	6.71e-05	0	0	0	0.0005	2.698e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	0.997	0.70673	D	0.848	0.60574	P	0.024738	0.26212	N	0.449031	1	0.08975	N	2.665	0.77964	M	-5.08	0.98667	D	-3.2	0.64710	D	0.467	0.50958	0.636	0.92365	D	0.918	0.97271	D	10	0.3221498	0.49569	T	0.412301	0.93624	D	0.358	0.67872	.	.	0.816319882103	0.81459	0.32869735130401917	0.32782	0.790129032098	0.65737	0.345968753099	0.17326	T	0.514943	0.82926	D	0.0158956	0.53826	T	0.000391494	0.70360	D	0.449623435735703	0.30783	T	0.848715	0.53056	T	0.094839364	0.22306	0.08112273	0.18409	0.094839364	0.22306	0.08112273	0.18408	-5.183	0.47444	T	0.2416545928320369	0.32735	0.098	0.17402	B	.;.;.;.	.;.;.;.	2.622588	0.34083	19.53	0.97881396996450321	0.36607	0.25204	0.22628	N	AEFGBI	0.116272	0.22826	N	-0.179274034360619	0.33999	1.935358	-0.353391295735086	0.26404	1.458217	0.999925209262256	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.85	2.31	0.27816	2.022000	0.40651	4.481000	0.43534	-0.159000	0.11634	0.136000	0.23442	0.993000	0.31925	0.022000	0.11911	0.1667:0.0:0.6929:0.1405	7.357	0.25898	792	0.45996	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1221.83	38	chr17	1496787	.	G	C	1221.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.513;DP=310;ExcessHet=0;FS=1.522;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=1.02;SOR=0.876	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1232,0,1954	5	0	1	0
chr17	2364618	2364618	G	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon9:c.G955A:p.V319M,SGSM2:NM_001346700:exon9:c.G955A:p.V319M,SGSM2:NM_014853:exon9:c.G955A:p.V319M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0089606847778	.	.	8.237e-05	0	0	0	0	1.498e-05	0	0.0005	7.76e-05	12	154602	rs141890015	4.925e-05	4.925e-05	4.084e-05	5.775e-05	0.0007	3.992e-05	3.669e-05	0.0005	0.0005	5.974e-05	0	0	0	0	0.0002	8.993e-06	0	0.0007	1.971e-05	1.97e-05	2.57e-05	1.344e-05	0.0004	5.24e-06	2.45e-06	7.276e-05	3.024e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.048	0.40068	D	0.04	0.50809	D	0.063	0.41464	B	0.014	0.31939	B	0.000003	0.62929	D	0.101592	0.541713	0.32060	D	0	0.06538	N	1.62	0.28189	T	-0.96	0.25551	N	0.387	0.47487	-1.0554	0.12934	T	0.028	0.12014	T	10	0.07896933	0.12649	T	0.008961	0.23607	T	0.082	0.23913	.	.	0.33440975612	0.33058	0.18053980416983068	0.17972	0.141933814377	0.16002	0.514331817627	0.40829	T	0.022871	0.17556	T	-0.464468	0.00921	T	-0.525457	0.19744	T	0.152474073941708	0.17299	T	0.949755	0.83015	D	0.08351023	0.19289	0.11111045	0.26799	0.08351023	0.19289	0.11111045	0.26799	-6.894	0.53255	T	.	.	0.139	0.33249	B	.;.;.;.	.;.;.;.	3.722763	0.53211	23.3	0.99833185690750559	0.91456	0.87844	0.47525	D	AEFGBI	0.310520	0.41652	N	-0.015868967969987	0.41137	2.455299	0.157835701404637	0.47559	2.984287	0.850804064542585	0.25041	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	3.71	0.41733	5.196000	0.64973	3.843000	0.40051	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4008:0.0:0.5992:0.0	4.448	0.11030	671	0.60868	.;Small G protein signalling modulator 1/2, PH 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	.	.	.	.	.	.	.	.	0.08333	2438.83	166	chr17	2364618	.	G	A	2438.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.978;DP=344;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.482;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr17	3127542	3127542	T	C	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.A10G:p.K4E	.	425	1095	1	0	1	2	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00296091089631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.218e-06	8.209e-06	1.226e-05	4.13e-06	2.997e-05	4.38e-06	3.46e-06	4.55e-06	3.32e-06	2.997e-05	0	0	0	0	0	8.999e-06	0	1.161e-05	6.574e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	2.14	0.19450	T	0.09	0.05917	N	0.016	0.00203	-0.9688	0.37448	T	0.019	0.07846	T	9	0.06794566	0.09541	T	0.002961	0.06309	T	0.074	0.21613	0.292	0.25400	0.245660935333	0.24156	0.06960105285617728	0.06898	0.0506893168278	0.05566	0.32935577631	0.14837	T	0.002193	0.01594	T	-0.504169	0.00542	T	-0.86135	0.00829	T	0.0174360793438452	0.00480	T	0.0307969	0.00192	T	0.05087139	0.09258	0.050780825	0.08039	0.05087139	0.09257	0.050780825	0.08038	-4.059	0.24683	T	.	.	0.061	0.01075	B	.	.	0.338533	0.07123	3.699	0.19996591231886968	0.00700	0.00125	0.00780	N	AEFBI	0.014117	0.00213	N	-1.10780295871107	0.06504	0.2995574	-1.03811250484216	0.08956	0.4429938	6.64832039697195E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	2.96	0.33383	-0.086000	0.11198	-6.185000	0.01471	0.496000	0.22519	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.8617:0.0:0.1383	8.132	0.30191	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	.	.	.	.	.	.	.	.	0.08333	444.83	36	chr17	3127542	.	T	C	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.726;DP=212;ExcessHet=0;FS=10.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.797;SOR=0.078	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1235	5	0	1	0
chr17	3440334	3440334	C	T	exonic	SPATA22	.	nonsynonymous SNV	SPATA22:NM_001170696:exon8:c.G776A:p.R259H,SPATA22:NM_001170695:exon9:c.G905A:p.R302H,SPATA22:NM_001170697:exon9:c.G905A:p.R302H,SPATA22:NM_001170698:exon9:c.G905A:p.R302H,SPATA22:NM_001321336:exon9:c.G857A:p.R286H,SPATA22:NM_001321337:exon9:c.G905A:p.R302H,SPATA22:NM_032598:exon9:c.G905A:p.R302H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.109636406294	.	.	1.715e-05	0	0	0	0	3.08e-05	0	0	1.29e-05	2	154602	rs80253914	3.004e-05	3.557e-05	4.437e-05	1.526e-05	3.547e-05	2.264e-05	1.994e-05	2.617e-05	2.284e-05	0	0	0	2.868e-05	0	0	3.547e-05	1.854e-05	1.499e-05	1.974e-05	1.97e-05	2.572e-05	1.347e-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	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.942	0.67772	D	0.006401	0.32067	N	0.265737	0.669056	0.81001	D	.	.	.	-1.43	0.80730	T	-3.66	0.70067	D	0.392	0.54409	0.289	0.87388	D	0.502	0.81178	D	10	0.6096713	0.67373	D	0.109636	0.78668	D	0.600	0.84183	.	.	0.729586217903	0.72718	0.5036924825547847	0.50291	0.229049300073	0.25467	0.565664052963	0.48066	T	0.260989	0.63242	T	0.105547	0.64886	D	0.0144645	0.71272	D	0.934418439865112	0.60187	D	0.934906	0.77799	D	0.32304507	0.54895	0.27656588	0.53602	0.32304507	0.54895	0.27656588	0.53601	-9.141	0.69387	D	0.7064091561345032	0.78607	0.367	0.61020	A	.;.;.;.;.;.	.;.;.;.;.;.	4.911668	0.80818	27.4	0.99932595043265326	0.99439	0.84320	0.43402	D	AEFDI	0.286605	0.39895	N	0.441480035720798	0.63722	4.611422	0.459101027079372	0.65305	4.806838	0.0120700248776245	0.12274	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.59	0.56297	3.338000	0.51846	7.436000	0.58833	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9272:0.0:0.0728	14.051	0.64261	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	198.83	16	chr17	3440334	.	C	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.88;DP=131;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=1.13;SOR=0.582	GT:AD:DP:GQ:PL	0/0:29,0:29:75:0,75,1125	5	0	1	0
chr17	3679660	3679660	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.G1117A:p.E373K,P2RX5:NM_175080:exon10:c.G1114A:p.E372K,P2RX5:NM_001204519:exon11:c.G1186A:p.E396K,P2RX5:NM_002561:exon11:c.G1189A:p.E397K	.	402	1087	32	1	0	34	0.0153986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0048	0.0183706	0.0104	0.0035	0.0030	0.0511	0.0006	0.0042	0.0111	0.0274	0.0098964	1530	154602	rs61748727	0.0075	0.0075	0.0070	0.0081	0.0391	0.0074	0.0074	0.0375	0.0368	0.0030	0.0044	0.0110	0.0391	0.0004	0.0130	0.0051	0.0097	0.0289	0.0067	0.0067	0.0062	0.0073	0.0480	0.0064	0.0062	0.0431	0.0412	0.0024	0.0417	0.0085	0.0104	0.0480	0.0008	0.0136	0.0045	0.0061	0.0288	0.085	0.36709	T	0.459	0.15988	T	0.009	0.15093	B	0.005	0.11217	B	0.003163	0.00943	U	4.829560	1	0.08975	N	0.805	0.20218	L	3.58	0.07024	T	-1.03	0.27052	N	0.12	0.16864	-1.0207	0.23486	T	0.013	0.04985	T	10	0.0026265383	0.00040	T	.	.	.	0.027	0.05988	.	.	.	.	0.32909414989104496	0.32822	0.170619428235	0.19229	0.410854518414	0.26575	T	0.023551	0.24544	T	-0.619439	0.00111	T	-0.623828	0.10888	T	0.00460929252969279	0.00049	T	0.527447	0.17405	T	0.043295294	0.06722	0.04209709	0.04935	0.043295294	0.06721	0.04209709	0.04935	-4.164	0.26243	T	.	.	0.080	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	0.632734	0.10012	6.765	0.94367969056869849	0.24731	0.04858	0.10594	N	AEFDBCI	0.039617	0.05780	N	-1.0453927655838	0.07678	0.3575069	-1.17833409566815	0.06273	0.3014294	0.0319125723097908	0.14028	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.99	-0.74	0.10555	0.032000	0.13620	-0.020000	0.12938	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3352:0.286:0.3788	3.804	0.08288	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.008772	0.050000	0.000000	0.012195	0.045455	0.08333	732.83	58	chr17	3679660	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.358;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	5	0	1	0
chr17	4064778	4064778	C	A	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon29:c.G4301T:p.G1434V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0157621168443	.	.	8.545e-06	0	0	0	0	1.563e-05	0	0	6.5e-06	1	154602	rs751595594	6.855e-07	6.84e-07	1.364e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.016	0.60972	D	0.018	0.17786	B	0.014	0.16862	B	0.000142	0.49130	D	0.180058	0.993615	0.41996	D	1.795	0.47270	L	1.89	0.23688	T	-2.9	0.60827	D	0.457	0.49420	-1.0753	0.08287	T	0.066	0.27052	T	10	0.11985704	0.22689	T	0.015762	0.36670	T	0.118	0.32913	0.187	0.09646	0.043077524339	0.03247	0.4065638754423153	0.40572	0.344575074866	0.36389	0.296602487564	0.09896	T	0.046177	0.27347	T	-0.095943	0.37096	T	-0.375592	0.36237	T	0.782978177070618	0.45237	D	0.780422	0.41514	T	0.289278	0.51925	0.2651142	0.52340	0.289278	0.51925	0.2651142	0.52339	-2.139	0.03755	T	.	.	0.116	0.23255	B	.	.	1.674723	0.21346	15.16	0.98007852485871993	0.37529	0.80791	0.40340	D	AEFDBI	0.209957	0.33589	N	-0.452870956550234	0.23642	1.271068	-0.426351353359556	0.24227	1.325523	0.993030585779494	0.33060	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.56	0.55644	3.375000	0.52140	0.676000	0.20636	0.549000	0.26987	0.387000	0.26063	0.011000	0.20116	0.876000	0.41813	0.0:0.9228:0.0:0.0772	12.540	0.55515	250	0.90192	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	390.83	34	chr17	4064778	.	C	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.335;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.666;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	5	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.1667	1261.06	36	chr17	4554215	.	C	G	1261.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.542;DP=242;ExcessHet=0.4139;FS=2.817;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.144;SOR=1.061	GT:AD:DP:GQ:PL	0/1:31,28:59:99:768,0,872	4	0	2	0
chr17	4898816	4898816	C	G	exonic	CHRNE	.	nonsynonymous SNV	CHRNE:NM_000080:exon12:c.G1402C:p.V468L	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	134213	Congenital_myasthenic_syndrome_4B|Congenital_myasthenic_syndrome_4A|Congenital_myasthenic_syndrome_4C|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0049	0.00658946	0.0116	0.0024	0.0058	0	0.0009	0.0122	0.0085	0.0239	0.0070956	1097	154602	rs139171143	0.0082	0.0082	0.0077	0.0087	0.0202	0.0081	0.0080	0.0194	0.0191	0.0010	0.0042	0.0137	0	0.0009	0.0144	0.0081	0.0089	0.0202	0.0056	0.0056	0.0052	0.0059	0.0168	0.0053	0.0051	0.0138	0.0128	0.0011	0	0.0075	0.0147	0.0002	0.0006	0.0102	0.0078	0.0066	0.0168	0.439	0.09291	T	0.781	0.04316	T	0.006	0.13644	B	0.012	0.16012	B	0.124231	0.18888	N	0.544079	1	0.08975	N	-1.03	0.01126	N	-1.78	0.83737	D	0.04	0.06488	N	0.026	0.00527	-0.9563	0.39861	T	0.170	0.51149	T	10	0.0081155	0.00184	T	.	.	.	0.193	0.47281	0.524	0.62818	0.73970075848	0.73736	0.5108977494356424	0.51011	0.173132123751	0.19504	0.436431020498	0.30089	T	0.123991	0.44873	T	-0.44225	0.01254	T	-0.392443	0.34266	T	0.00471746528373489	0.00050	T	0.568443	0.20183	T	0.0839231	0.19401	0.05937821	0.11132	0.09259061	0.21725	0.05937821	0.11131	-4.574	0.31843	T	0.07255126532831871	0.02984	0.082	0.08705	B	.;.	.;.	1.464950	0.18879	13.97	0.944513145183004	0.24882	0.11588	0.16732	N	AEFDGBCI	0.135937	0.25643	N	-0.833096516067367	0.12471	0.6080328	-0.71362750297996	0.16621	0.8801673	0.999998109444355	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	4.91	0.885	0.18323	-0.492000	0.06547	-0.945000	0.06834	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2577:0.3665:0.3758:0.0	7.891	0.28840	296	0.88164	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016633	0.000000	0.010899	0.008824	0.000000	0.000000	0.027439	0.045455	0.08333	1519.83	35	chr17	4898816	.	C	G	1519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.54;DP=284;ExcessHet=0;FS=3.551;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.504;SOR=0.891	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	5	0	1	0
chr17	5444279	5444279	C	G	exonic	DHX33	.	nonsynonymous SNV	DHX33:NM_001199699:exon11:c.G1531C:p.V511L,DHX33:NM_020162:exon12:c.G2050C:p.V684L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00700795647911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.37750	T	0.431	0.15456	T	0.022	0.36638	B	0.053	0.38946	B	0.000076	0.52346	N	0.129428	0.999528	0.47407	D	1.79	0.46772	L	4.06	0.11407	T	-1.3	0.33798	N	0.099	0.15888	-1.0935	0.04974	T	0.034	0.14683	T	10	0.1486288	0.28142	T	0.007008	0.18567	T	0.051	0.14325	0.359	0.36222	0.594874987132	0.59165	0.41446656259253273	0.41362	0.293512613635	0.31773	0.519453823566	0.41549	T	0.023836	0.23026	T	-0.234044	0.16118	T	-0.573964	0.15087	T	0.322547672419926	0.25925	T	0.813419	0.50261	T	0.063225	0.13291	0.11203683	0.27031	0.063225	0.13290	0.11203683	0.27030	-5.608	0.42865	T	.	.	0.235	0.51359	B	.;.	.;.	1.920929	0.24395	16.38	0.95629214491599779	0.27408	0.89442	0.49909	D	AEFBI	0.204432	0.33087	N	-0.274458695972809	0.30139	1.677692	-0.196935141287074	0.31649	1.793091	0.59126744337202	0.21649	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.6	3.61	0.40494	2.200000	0.42358	2.757000	0.34577	-0.214000	0.08267	0.981000	0.35396	0.994000	0.32194	0.231000	0.22761	0.0:0.8496:0.1504:0.0	14.220	0.65367	623	0.65786	Domain of unknown function DUF1605;Domain of unknown function DUF1605	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2932.06	35	chr17	5444279	.	C	G	2932.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=366;ExcessHet=0.4139;FS=0.494;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.14;SOR=0.758	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1410,0,1363	4	0	2	0
chr17	5517800	5517800	G	A	exonic	NLRP1	.	stopgain	NLRP1:NM_033007:exon13:c.C3781T:p.Q1261X,NLRP1:NM_014922:exon14:c.C3871T:p.Q1291X,NLRP1:NM_033006:exon14:c.C3913T:p.Q1305X,NLRP1:NM_001033053:exon15:c.C4015T:p.Q1339X,NLRP1:NM_033004:exon15:c.C4003T:p.Q1335X	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239830	0.15736	N	0.471873	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.775	0.90251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309596	0.83715	D	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.;.	.;.;.;.;High;.;.;.;.;.	8.201654	0.97290	37	0.94358168006325238	0.24714	0.03892	0.09266	N	AEFGBI	0.028168	0.02433	N	0.0637027734054764	0.44775	2.745457	-0.359112027983121	0.26228	1.447348	0.997813962823436	0.36062	0.706298	0.61202	0	0.709663	0.81188	0	0.573078	0.19857	0	0.711	0.71501	0	.	.	3.85	-1.4	0.08499	-0.510000	0.06411	-0.734000	0.07648	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.341000	0.25455	0.0:0.304:0.414:0.282	7.169	0.24883	682	0.59757	.;.;FIIND domain|FIIND domain;FIIND domain|FIIND domain;FIIND domain|FIIND domain;.;.;.;FIIND domain|FIIND domain;FIIND domain|FIIND 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	.	.	.	.	.	.	.	.	0.08333	1489.83	35	chr17	5517800	.	G	A	1489.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.37;DP=324;ExcessHet=0;FS=2.993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.217;SOR=0.652	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1500,0,1866	5	0	1	0
chr17	5559754	5559754	G	C	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon4:c.C942G:p.I314M,NLRP1:NM_014922:exon4:c.C942G:p.I314M,NLRP1:NM_033004:exon4:c.C942G:p.I314M,NLRP1:NM_033006:exon4:c.C942G:p.I314M,NLRP1:NM_033007:exon4:c.C942G:p.I314M	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00662428521221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407143238	2.736e-06	2.736e-06	0	5.5e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.22486	T	0.205	0.29056	T	0.492	0.36976	P	0.206	0.37138	B	0.737611	0.06408	N	1.164190	1	0.08975	N	.	.	.	-1.94	0.84919	D	-1.71	0.40660	N	0.212	0.32370	-0.6538	0.62548	T	0.426	0.76969	T	10	0.112966	0.21208	T	0.006624	0.17472	T	0.203	0.48915	0.545	0.65873	0.492611691308	0.48895	0.26078045464960115	0.25991	0.268677020668	0.29385	0.368706256151	0.20646	T	0.006224	0.05657	T	-0.111	0.34604	T	-0.300366	0.44687	T	0.0873222572420452	0.10897	T	0.746525	0.36724	T	0.052260134	0.09722	0.06497543	0.13102	0.052260134	0.09721	0.06497543	0.13101	-6.174	0.47777	T	0.21913144138191806	0.29521	0.172	0.48685	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.017854	0.04408	1.147	0.91947938548466601	0.21274	0.07574	0.13586	N	AEFBCI	0.049432	0.08538	N	-0.870440314911263	0.11551	0.5580039	-0.952993489678972	0.10854	0.5493451	0.00448166927807266	0.10581	0.732398	0.92422	0	0.743671	0.97443	0	0.577349	0.28860	0	0.714379	0.83352	0	.	.	4.22	-0.458	0.11574	0.014000	0.13228	-3.649000	0.02631	-0.758000	0.03527	0.000000	0.06391	0.000000	0.08366	0.157000	0.20547	0.1982:0.3774:0.4244:0.0	4.871	0.12993	705	0.57330	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1094.83	39	chr17	5559754	.	G	C	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=271;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.46;SOR=0.53	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1231	5	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.08333	1502.83	88	chr17	6425710	.	C	A	1502.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=263;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-2.298;SOR=0.495	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1309	5	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	179.05	93	chr17	6800775	.	C	G	179.05	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.103;DP=523;ExcessHet=0;FS=113.33;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=1.66;SOR=6.932	GT:AD:DP:GQ:PL	./.:92,0:92:0:0,0,1643	0	0	1	5
chr17	7027530	7027530	C	G	exonic	BCL6B	.	nonsynonymous SNV	BCL6B:NM_181844:exon9:c.C1351G:p.H451D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0190591001633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.016	0.60972	D	0.771	0.43934	P	0.859	0.61184	P	0.000002	0.62929	D	0.100028	0.999977	0.53665	D	0.36	0.11994	N	2.03	0.20959	T	-4.51	0.78222	D	0.623	0.63798	-1.1068	0.03359	T	0.086	0.33382	T	10	0.6105757	0.67421	D	0.019059	0.41318	T	0.370	0.68930	0.46	0.52753	0.695917708231	0.69329	0.7599943351472632	0.75947	1.45932965126	0.86315	0.851849675179	0.89894	D	0.475228	0.80635	T	0.0570034	0.59235	T	-0.155895	0.58719	T	0.986413359642029	0.77138	D	0.858314	0.54891	D	0.5394452	0.69365	0.56640047	0.74901	0.5394452	0.69366	0.56640047	0.74902	-8.938	0.67297	D	.	.	0.958	0.87851	P	.	.	4.985856	0.82625	27.8	0.99537612244250073	0.70274	0.95639	0.65530	D	AEFDBCIJ	0.942198	0.94646	D	0.529482150906612	0.68843	5.273	0.601586683880417	0.75056	6.243312	0.999999999999999	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.638787	0.57140	0	.	.	5.47	5.47	0.80345	5.818000	0.68915	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.811	0.85586	764	0.49969	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	946.83	35	chr17	7027530	.	C	G	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.404;DP=248;ExcessHet=0;FS=3.148;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.557;SOR=0.395	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	5	0	1	0
chr17	7343497	7343497	G	A	exonic	ACAP1	.	nonsynonymous SNV	ACAP1:NM_014716:exon6:c.G463A:p.A155T	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0246120740439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.161	0.59732	T	0.297	0.32486	B	0.172	0.35394	B	0.000031	0.55875	D	0.117745	0.999998	0.58761	D	1.7	0.43825	L	3.26	0.06681	T	-1.86	0.43524	N	0.557	0.58202	-1.0815	0.07060	T	0.029	0.12322	T	10	0.28693867	0.46276	T	0.024612	0.47597	T	0.179	0.44899	0.467	0.53891	0.510113526977	0.50651	0.3943514466595643	0.39350	0.80725798743	0.66545	0.604625225067	0.53558	T	0.051717	0.48716	T	-0.120105	0.33105	T	-0.410299	0.32190	T	0.844903469085693	0.49732	D	0.872813	0.58002	D	0.32933894	0.55416	0.21727242	0.46387	0.32933894	0.55417	0.21727242	0.46386	-7.889	0.60311	D	.	.	0.280	0.51271	B	.;.;.	.;.;.	3.817665	0.55106	23.6	0.99523650841962152	0.69407	0.98769	0.86615	D	AEFBI	0.674448	0.64017	D	-0.0826386894142808	0.38154	2.230317	0.0237644378365437	0.40822	2.442348	0.999813374118818	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.645665	0.59343	0	.	.	5.24	4.27	0.50009	6.780000	0.74837	9.947000	0.82700	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.842:0.158	13.470	0.60726	222	0.91398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	505.83	36	chr17	7343497	.	G	A	505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=192;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.482;SOR=0.993	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	5	0	1	0
chr17	7817603	7817603	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon66:c.G10063A:p.D3355N	.	428	1090	4	0	0	4	0.0018315	.	.	.	2338383	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00466527715447	7.7e-05	0.000199681	0.0003	9.69e-05	0.0003	0	0	0.0004	0.0011	0.0004	0.0003105	48	154602	rs137983416	0.0003	0.0003	0.0002	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	5.974e-05	0.0002	0	0	3.744e-05	0.0016	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	2.408e-05	0	0.0002	0	0	0	0	0.0007	0.0014	0	0.497	0.07821	T	0.478	0.11968	T	0.0	0.02946	B	0.001	0.04355	B	0.007738	0.31228	N	0.339098	0.955513	0.26331	N	0.59	0.15444	N	1.0	0.41392	T	-0.85	0.23156	N	0.302	0.35301	-1.0694	0.09545	T	0.076	0.30429	T	10	0.036501497	0.01952	T	0.004665	0.11566	T	0.037	0.09474	.	.	0.436348499334	0.43257	0.32970557005018136	0.32883	0.264776768799	0.29030	0.416187107563	0.27311	T	0.019252	0.15372	T	-0.525629	0.00408	T	-0.584154	0.14175	T	0.0306677894774644	0.02093	T	0.614539	0.24053	T	0.068028085	0.14784	0.07447376	0.16294	0.068028085	0.14784	0.07447376	0.16294	-1.82	0.02569	T	.	.	0.086	0.15160	B	.;.;.	.;.;.	2.608180	0.33872	19.47	0.90466665645390798	0.19725	0.82136	0.41411	D	AEFDBI	0.158154	0.28377	N	-0.258741857937586	0.30756	1.717917	-0.104840288433148	0.35196	2.033306	0.572392670688966	0.21503	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	3.950000	0.56384	8.720000	0.78159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0849:0.0:0.9151:0.0	11.373	0.48951	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1619.83	34	chr17	7817603	.	G	A	1619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=380;ExcessHet=0;FS=2.352;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.878;SOR=0.983	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1256	5	0	1	0
chr17	7823608	7823608	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon74:c.C11309T:p.P3770L	.	.	.	.	.	.	.	.	.	.	.	3392559	Laterality_defects,_autosomal_dominant	MONDO:MONDO:0010991,MedGen:C1832813,OMIM:601086,Orphanet:450	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.0244094706221	.	.	8.256e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs764717426	8.209e-06	8.209e-06	6.807e-06	9.626e-06	2.519e-05	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	0	2.519e-05	0	0	8.094e-06	1.656e-05	1.159e-05	6.571e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	2.49	0.14531	T	-9.44	0.98408	D	0.817	0.81261	-0.6510	0.62671	T	0.159	0.49245	T	10	0.8990331	0.89262	D	0.024409	0.47398	T	0.346	0.66769	0.746	0.87738	0.404453528171	0.40057	0.8293514478989574	0.82893	0.947446290278	0.72469	0.608575940132	0.54114	T	0.25439	0.62503	T	-0.00420881	0.51073	T	-0.0746939	0.65289	T	0.999903917312622	0.99629	D	0.813719	0.46699	T	0.86776394	0.88686	0.67754245	0.81061	0.86776394	0.88687	0.67754245	0.81062	-9.497	0.70840	D	.	.	0.776	0.84262	P	.;.;.	.;.;.	4.677122	0.74812	26.2	0.99912532767419737	0.98167	0.91677	0.54029	D	AEFDGBCI	0.695221	0.65397	D	0.887463798602489	0.91132	10.73119	0.789334686173814	0.89043	9.815412	0.99999988948215	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	4.89	4.89	0.63387	6.777000	0.74822	5.889000	0.50737	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:1.0:0.0:0.0	16.979	0.86195	287	0.88635	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain 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	.	.	.	.	.	.	.	.	0.08333	1274.83	38	chr17	7823608	.	C	T	1274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=285;ExcessHet=0;FS=0.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.488;SOR=0.831	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1270	5	0	1	0
chr17	7894968	7894970	GAG	-	exonic	CHD3	.	nonframeshift deletion	CHD3:NM_001005271:exon9:c.1498_1500del:p.E501del,CHD3:NM_001005273:exon9:c.1321_1323del:p.E442del,CHD3:NM_005852:exon9:c.1321_1323del:p.E442del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375191399	4.106e-06	4.104e-06	2.724e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	0	3.478e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1071.79	34	chr17	7894967	.	AGAG	A	1071.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.27;SOR=0.584	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1402	5	0	1	0
chr17	8048554	8048554	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039131:exon12:c.G1798A:p.V600I,ALOX15B:NM_001039130:exon13:c.G1933A:p.V645I,ALOX15B:NM_001141:exon14:c.G2020A:p.V674I	.	.	.	.	.	.	.	.	.	.	.	3271980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0194848919163	.	0.000199681	0.0001	0	0	0	0	0.0002	0	6.298e-05	0.0001164	18	154602	rs201702180	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0	0.0002	0	0	0.0002	0.0002	0.0002	6.96e-05	5.256e-05	5.25e-05	6.428e-05	4.031e-05	0.0001	2.557e-05	1.83e-05	5.845e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0	0	0.334	0.13219	T	0.457	0.12704	T	0.143	0.33423	B	0.046	0.30674	B	0.000282	0.46274	N	0.187532	0.870047	0.81001	D	0.83	0.20963	L	-2.34	0.87989	D	-0.41	0.14000	N	0.078	0.17416	-0.5286	0.67594	T	0.336	0.70256	T	10	0.05000058	0.04670	T	0.019485	0.41866	T	0.182	0.45420	.	.	0.773536180922	0.77145	0.39884380598011576	0.39799	0.125987352344	0.14203	0.270342648029	0.06185	T	0.004126	0.09021	T	-0.26856	0.11918	T	-0.317568	0.42841	T	0.0577884595430362	0.06816	T	0.726827	0.38847	T	0.057191547	0.11350	0.042363767	0.05027	0.057191547	0.11349	0.042363767	0.05027	-4.31	0.28316	T	.	.	0.082	0.08899	B	.;.;.;.	.;.;.;.	-0.058740	0.03895	0.853	0.9499716651516158	0.25954	0.17538	0.19880	N	AEFDBI	0.127105	0.24434	N	-0.642931811258218	0.17667	0.9110203	-0.573357462723212	0.20189	1.08659	0.221434206630003	0.18359	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.76	1.75	0.23707	-0.090000	0.11129	0.438000	0.18395	0.676000	0.76740	0.001000	0.13787	0.019000	0.20708	0.229000	0.22707	0.2003:0.0:0.7997:0.0	9.257	0.36749	367	0.84523	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	882.83	42	chr17	8048554	.	G	A	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.603;DP=330;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.35;SOR=0.393	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	5	0	1	0
chr17	8076313	8076313	C	A	exonic	ALOX12B	.	nonsynonymous SNV	ALOX12B:NM_001139:exon11:c.G1394T:p.G465V	Ichthyosis, congenital, autosomal recessive 2, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	346363	Autosomal_recessive_congenital_ichthyosis_2|ALOX12B-related_disorder|not_provided	MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.140	0.0219978733821	0.0015	0.000399361	0.0023	0.0001	0.0003	0	0.0089	0.0029	0.0016	0.0014	0.0015071	233	154602	rs145344421	0.0018	0.0018	0.0017	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0002	0.0010	3.838e-05	0	0.0058	0.0010	0.0018	0.0012	0.0015	0.0017	0.0017	0.0012	0.0022	0.0023	0.0015	0.0015	0.0016	0.0014	0.0003	0	0.0022	0	0.0002	0.0072	0	0.0017	0.0024	0.0023	0.227	0.18498	T	0.166	0.30828	T	0.0	0.02946	B	0.001	0.04355	B	0.330521	0.14122	N	0.718377	0.955457	0.37926	D	-0.695	0.01866	N	-1.02	0.76300	T	0.33	0.03889	N	0.239	0.26957	-0.9197	0.45594	T	0.207	0.56594	T	10	0.009960473	0.00223	T	0.021998	0.44841	T	0.140	0.37593	.	.	0.326345978581	0.32251	0.4272927939233823	0.42646	0.668839237153	0.59315	0.323818325996	0.13998	T	0.165078	0.51078	T	-0.472936	0.00815	T	-0.457974	0.26820	T	0.0026816340667359	0.00028	T	0.445455	0.15541	T	0.07315782	0.16327	0.07371624	0.16050	0.05636282	0.11079	0.062819146	0.12350	-5.159	0.38522	T	0.054118530491180206	0.01132	0.117	0.36594	B	.;.;.	.;.;.	1.403559	0.18178	13.59	0.64446285757415955	0.07496	0.19403	0.20647	N	AEFBI	0.123592	0.23926	N	-1.22722874940791	0.04608	0.2083534	-1.10556182644923	0.07593	0.3699596	0.0540776125888672	0.14959	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.2	2.98	0.33575	1.260000	0.32571	4.169000	0.42261	-1.231000	0.01326	0.276000	0.25103	0.997000	0.33255	0.366000	0.26021	0.0:0.1713:0.0:0.8287	7.775	0.28197	354	0.85282	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.08333	541.83	57	chr17	8076313	.	C	A	541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.256;DP=243;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.869;SOR=0.503	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr17	8237397	8237397	G	T	exonic	CTC1	.	nonsynonymous SNV	CTC1:NM_025099:exon5:c.C770A:p.T257N	Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0186582822621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007776903	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.072	0.43344	T	0.0	0.02946	B	0.002	0.06944	B	0.231259	0.15916	N	0.665589	1	0.08975	N	1.355	0.33814	L	-1.64	0.82533	D	-0.45	0.14782	N	0.132	0.12770	-0.7470	0.58092	T	0.322	0.69125	T	10	0.0889543	0.15364	T	0.018658	0.40796	T	0.136	0.36778	0.205	0.12076	0.229264304666	0.22521	0.2063614302188771	0.20553	0.13658647459	0.15408	0.353998124599	0.18508	T	0.226222	0.59118	T	-0.235052	0.15987	T	-0.478559	0.24599	T	0.0237164910415293	0.01109	T	0.534247	0.17838	T	0.030558784	0.02739	0.036482234	0.03104	0.030558784	0.02739	0.036482234	0.03104	-4.167	0.26272	T	.	.	.	.	.	.	.	1.337755	0.17438	13.16	0.75298247451865719	0.11021	0.06299	0.12294	N	AEFDGBHCI	0.024342	0.01490	N	-1.08996778840493	0.06826	0.315381	-1.10388166928855	0.07626	0.3716722	0.998468187114833	0.37014	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	-1.08	0.09428	0.198000	0.17018	-0.590000	0.08327	-1.014000	0.01756	0.630000	0.27999	0.000000	0.08366	0.001000	0.02609	0.0:0.359:0.4615:0.1795	6.314	0.20386	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1137.83	34	chr17	8237397	.	G	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.516;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.4;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	5	0	1	0
chr17	8475854	8475854	C	G	exonic	MYH10	.	nonsynonymous SNV	MYH10:NM_005964:exon41:c.G5881C:p.E1961Q,MYH10:NM_001256095:exon42:c.G5908C:p.E1970Q,MYH10:NM_001375266:exon42:c.G5911C:p.E1971Q,MYH10:NM_001256012:exon43:c.G5974C:p.E1992Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.021815265853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.46910	T	0.243	0.24193	T	0.084	0.24799	B	0.078	0.28627	B	0.000000	0.84330	D	0.049767	0.999979	0.81001	D	0	0.06538	N	-2.12	0.86283	D	-0.91	0.24676	N	0.178	0.26957	0.242	0.86608	D	0.539	0.82965	D	10	0.24080873	0.41247	T	0.021815	0.44639	T	0.431	0.73735	0.051	0.00104	0.732501042508	0.73011	0.3993242773725406	0.39847	0.525972440642	0.50228	0.5935100317	0.51989	T	0.155004	0.49654	T	0.00567759	0.52435	T	-0.229621	0.51809	T	0.880857646465302	0.53089	D	0.945705	0.79334	D	0.19828747	0.41725	0.12875223	0.30970	0.19828747	0.41725	0.12875223	0.30969	-5.397	0.40891	T	.	.	0.185	0.42288	B	.;.;.	.;.;.	4.472129	0.69692	25.4	0.99491581082435543	0.67460	0.97478	0.75007	D	AEFDBCI	0.879383	0.80530	D	0.158589998043468	0.49220	3.124779	0.312183959748044	0.56254	3.788578	0.99999999986209	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	7.271000	0.77894	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:1.0:0.0:0.0	18.187	0.89730	316	0.87161	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	639.83	36	chr17	8475854	.	C	G	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.003;DP=239;ExcessHet=0;FS=5.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.776;SOR=0.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	5	0	1	0
chr17	8757478	8757478	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon2:c.C124T:p.P42S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00139567894856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.298	0.20486	T	0.651	0.40707	P	0.212	0.37394	B	0.539425	0.05305	N	1.317650	1	0.08975	N	1.245	0.31408	L	.	.	.	-2.9	0.60827	D	0.211	0.23506	-1.0584	0.12159	T	0.057	0.23980	T	9	0.05852568	0.06893	T	0.001396	0.02037	T	0.082	0.23913	0.159	0.06287	0.0297737177859	0.01360	0.07731573784390164	0.07667	0.254033164436	0.27974	0.283014297485	0.07916	T	0.007082	0.06498	T	-0.268593	0.11913	T	-0.623591	0.10906	T	0.500075101852417	0.32632	D	0.314569	0.06202	T	0.048639555	0.08509	0.11115576	0.26809	0.048639555	0.08509	0.11115576	0.26809	-3.284	0.13532	T	.	.	0.082	0.08560	B	.	.	0.000215	0.04284	1.072	0.6775746161992845	0.08450	0.00803	0.03267	N	AEFDBHCI	0.023029	0.01229	N	-0.955001691817458	0.09581	0.4540635	-1.18835251310603	0.06103	0.2927728	8.60269968834021E-4	0.07917	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.86	-3.73	0.04112	-0.532000	0.06252	-2.343000	0.03875	0.509000	0.23192	0.006000	0.17386	0.000000	0.08366	0.187000	0.21511	0.3169:0.2055:0.2704:0.2072	0.220	0.00155	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	781.83	33	chr17	8757478	.	G	A	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.94;DP=240;ExcessHet=0;FS=2.334;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.952;SOR=0.396	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1018	5	0	1	0
chr17	8827251	8827251	G	A	exonic	PIK3R6	.	nonsynonymous SNV	PIK3R6:NM_001010855:exon13:c.C1436T:p.T479M,PIK3R6:NM_001290211:exon13:c.C1028T:p.T343M	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116100964927	.	0.000798722	0.0013	0	0.0004	0	0	4.204e-05	0	0.0062	0.0005239	81	154602	rs562238482	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0.0005	1.825e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0062	0.0001	0.0001	0.0045	0.0039	0	0	0	0	0	0	0	0	0	0.0062	.	.	.	0.014	0.62352	D	0.98	0.59353	D	0.595	0.50587	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.39356	.	.	.	.	.	.	.	0.01156956	0.00252	T	0.01161	0.29407	T	.	.	.	.	0.432493127443	0.42867	0.33692688018618877	0.33605	.	.	0.330841034651	0.15061	T	0.265452	0.63731	T	-0.339382	0.05431	T	-0.258079	0.49015	T	.	.	.	0.79532	0.43818	T	0.10455087	0.24716	0.34483284	0.60174	0.10455087	0.24716	0.34483284	0.60174	-7.587	0.58220	D	.	.	0.090	0.12512	B	.;.	.;.	2.859334	0.37778	20.6	0.91961366668729405	0.21290	0.18894	0.20445	N	AEFDBHCI	0.161413	0.28747	N	.	.	.	.	.	.	0.887043051292394	0.25756	0.283894	0.04978	0	0.278934	0.05175	0	0.083675	0.02720	0	0.079188	0.02158	0	.	.	4.6	3.6	0.40374	1.320000	0.33272	4.629000	0.44108	0.671000	0.69459	0.003000	0.16062	0.939000	0.28734	0.266000	0.23669	0.0798:0.0:0.9202:0.0	13.391	0.60272	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	343.83	33	chr17	8827251	.	G	A	343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.679;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	5	0	1	0
chr17	8888177	8888177	T	C	exonic	PIK3R5	.	nonsynonymous SNV	PIK3R5:NM_001251852:exon9:c.A452G:p.N151S,PIK3R5:NM_001251853:exon9:c.A452G:p.N151S,PIK3R5:NM_001251855:exon9:c.A452G:p.N151S,PIK3R5:NM_001142633:exon10:c.A1610G:p.N537S,PIK3R5:NM_001251851:exon10:c.A452G:p.N151S,PIK3R5:NM_014308:exon10:c.A1610G:p.N537S	Ataxia-oculomotor apraxia 3, Autosomal recessive	424	1051	44	3	0	50	0.0232342	.	.	.	715870	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.206	.	0.0008	0.00499201	0.0041	9.829e-05	0.0006	0	0	0.0011	0.0056	0.0244	0.0034864	539	154602	rs141354792	0.0021	0.0021	0.0013	0.0029	0.0248	0.0021	0.0020	0.0240	0.0236	2.987e-05	0.0008	0.0033	0	3.793e-05	0.0085	0.0006	0.0025	0.0248	0.0014	0.0014	0.0011	0.0017	0.0233	0.0012	0.0012	0.0198	0.0185	7.223e-05	0	0.0010	0.0014	0	0	0.0170	0.0009	0.0043	0.0233	0.757	0.03512	T	0.66	0.08025	T	0.008	0.14655	B	0.014	0.16862	B	0.001828	0.37892	N	0.336110	0.719223	0.29938	N	1.48	0.37141	L	-1.23	0.78860	T	-0.34	0.12661	N	0.137	0.13769	-0.8843	0.49415	T	0.128	0.43666	T	10	0.011410058	0.00249	T	.	.	.	0.206	0.49396	.	.	0.457489361034	0.45375	0.3056649105751712	0.30479	0.379746466743	0.39358	0.264593482018	0.05451	T	0.161401	0.50565	T	-0.478229	0.00758	T	-0.441466	0.28644	T	0.0209420530323681	0.00795	T	0.813419	0.61484	T	0.06834999	0.14883	0.06895789	0.14468	0.07208568	0.16008	0.056036726	0.09939	-2.749	0.07724	T	0.14441162739449145	0.16495	0.079	0.20508	B	.;.;.;.;.;.	.;.;.;.;.;.	1.821389	0.23148	15.90	0.94299559294408519	0.24609	0.89942	0.50743	D	AEFDBI	0.313915	0.41893	N	-0.391004030368227	0.25789	1.402542	-0.175773257198732	0.32430	1.844936	0.109216815697869	0.16602	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	1.446000	0.34701	6.107000	0.53619	-0.113000	0.14837	0.997000	0.40164	1.000000	0.68203	0.201000	0.21925	0.0:0.0:0.0:1.0	15.586	0.76229	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.005435	0.002924	0.000000	0.034483	0.012195	0.022727	0.08333	1095.83	83	chr17	8888177	.	T	C	1095.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.517;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	5	0	1	0
chr17	9808871	9808871	A	G	exonic	GSG1L2	.	nonsynonymous SNV	GSG1L2:NM_001310219:exon3:c.T470C:p.L157P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.266441552101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000007	0.62929	U	0.000000	.	.	.	.	.	.	-3.47	0.94546	D	.	.	.	0.822	0.81758	1.058	0.98289	D	0.865	0.95502	D	6	0.9671967	0.96227	D	0.266442	0.89711	D	0.946	0.98921	0.804	0.92230	0.794864485838	0.79295	0.9482244358027837	0.94805	.	.	.	.	.	0.262681	0.63428	T	0.34314	0.86046	D	0.25512	0.85863	D	0.977516770362854	0.71881	D	0.383462	0.09368	T	0.35348418	0.57336	0.44387156	0.67588	0.35348418	0.57337	0.44387156	0.67589	-7.75	0.59354	D	.	.	0.113	0.22318	B	.	.	3.740828	0.53561	23.4	0.68803796543059514	0.08772	0.98563	0.84133	D	AEFGBI	0.935835	0.93128	D	0.245795622243078	0.53431	3.512011	0.245214750305913	0.52377	3.412967	0.81108636824517	0.24356	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	8.428000	0.90146	6.360000	0.55506	0.756000	0.94297	0.988000	0.36536	0.999000	0.35428	0.454000	0.27984	1.0:0.0:0.0:0.0	12.739	0.56613	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1630.83	47	chr17	9808871	.	A	G	1630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=357;ExcessHet=0;FS=0.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.943;SOR=0.813	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1641,0,1612	5	0	1	0
chr17	10303286	10303286	C	G	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon39:c.G5577C:p.E1859D	.	420	1086	3	0	13	16	0.00137931	.	.	.	2218172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0225051242979	7.8e-05	.	0.0001	0	0	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs372224078	9.03e-05	9.029e-05	6.67e-05	0.0001	0.0024	7.756e-05	7.299e-05	0.0015	0.0012	0	0.0004	7.652e-05	0	0	0.0024	1.888e-05	0.0002	0.0007	5.913e-05	5.906e-05	2.571e-05	9.407e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.407e-05	0	0.0003	0	0	0	0	1.471e-05	0	0.0006	0.05	0.39575	D	0.265	0.22694	T	0.092	0.25296	B	0.246	0.38861	B	.	.	.	.	0.992	0.23951	N	1.84	0.48285	L	-1.47	0.81067	T	-1.68	0.40082	N	0.259	0.33578	-0.6439	0.62979	T	0.374	0.73265	T	9	0.06759086	0.09438	T	0.022505	0.45406	T	0.203	0.48915	0.742	0.87401	0.553672381021	0.55024	0.25265911101417526	0.25179	0.473008986637	0.46537	0.542987108231	0.44868	T	0.219543	0.58258	T	-0.367911	0.03700	T	-0.379242	0.35812	T	0.104151883513963	0.12807	T	0.821218	0.48050	T	0.10100979	0.23857	0.12381383	0.29852	0.10100979	0.23857	0.12381383	0.29851	-5.661	0.43344	T	.	.	0.149	0.32992	B	.;.;.	.;.;.	2.183880	0.27838	17.60	0.98945205653397073	0.49016	0.32939	0.24707	N	AEFBI	0.498294	0.53246	N	-0.6567653276493	0.17263	0.8868456	-0.627821792978627	0.18780	1.004707	5.86033939185107E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.81	1.79	0.23992	-0.578000	0.05933	-0.418000	0.09303	-0.177000	0.10537	0.054000	0.21560	0.059000	0.21998	0.965000	0.52897	0.0:0.5685:0.182:0.2495	4.696	0.12186	90	0.96275	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	1094.83	37	chr17	10303286	.	C	G	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.701;DP=302;ExcessHet=0;FS=1.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.798;SOR=0.512	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr17	10451410	10451410	T	G	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.A3781C:p.S1261R	.	437	1046	36	3	0	42	0.0196813	.	.	.	703935	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.607	0.0247948073885	0.0024	0.00239617	0.0032	0.0004	0.0017	0	0.0009	0.0040	0.0066	0.0049	0.0031694	490	154602	rs34610503	0.0036	0.0036	0.0036	0.0037	0.0113	0.0035	0.0035	0.0091	0.0083	0.0004	0.0028	0.0067	2.52e-05	0.0011	0.0113	0.0037	0.0035	0.0061	0.0025	0.0025	0.0025	0.0026	0.0058	0.0023	0.0022	0.0041	0.0036	0.0006	0	0.0042	0.0087	0	0.0007	0	0.0033	0.0062	0.0058	0.002	0.72154	D	0.077	0.42436	T	0.849	0.46879	P	0.649	0.52426	P	0.000505	0.43753	U	0.000000	0.979355	0.39553	D	2.515	0.73286	M	-1.65	0.82625	D	-2.37	0.52289	N	0.587	0.60749	0.444	0.89748	D	0.646	0.87653	D	10	0.017565101	0.00376	T	0.024795	0.47786	T	0.607	0.84559	0.565	0.68633	0.944002009858	0.94341	0.14116267411786126	0.14039	0.190587588975	0.21375	0.56471145153	0.47932	T	0.468192	0.80222	T	-0.2002	0.20777	T	-0.0587076	0.66422	T	0.0515196940533941	0.05765	T	0.850115	0.53348	D	0.19272667	0.40953	0.405725	0.64965	0.19272667	0.40953	0.405725	0.64965	-13.597	0.91673	D	.	.	0.515	0.65265	A	.	.	4.385015	0.67628	25.1	0.998307327270469	0.91284	0.89744	0.50408	D	AEFI	0.493322	0.52958	N	0.520811354633792	0.68320	5.20122	0.500269396938839	0.68008	5.161289	0.00325402333299923	0.10018	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.247000	0.51123	7.874000	0.72122	0.665000	0.62972	0.995000	0.38783	0.997000	0.33255	0.997000	0.79791	0.1365:0.0:0.0:0.8635	11.245	0.48221	90	0.96275	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.018939	0.08333	827.83	33	chr17	10451410	.	T	G	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=238;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.652;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	5	0	1	0
chr17	10634181	10634181	A	G	exonic	MYH3	.	nonsynonymous SNV	MYH3:NM_002470:exon32:c.T4358C:p.V1453A	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	0	1514	8	0	0	8	0.00263505	0.6787	0.444	YES	703946	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.483	0.151285918374	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0016	0.000194	30	154602	rs567759367	0.0001	0.0001	5.309e-05	0.0002	0.0017	9.872e-05	9.282e-05	0.0015	0.0014	0	0	0	0	0	0.0010	7.194e-06	9.935e-05	0.0017	6.568e-05	7.218e-05	1.285e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	.	.	.	0.332	0.18449	T	0.656	0.40834	P	0.297	0.40924	B	.	.	.	.	0.988622	0.40798	D	1.925	0.51371	L	-1.59	0.82076	D	.	.	.	0.584	0.60495	-0.2171	0.77228	T	0.460	0.79038	T	9	0.05090323	0.04891	T	0.151286	0.83286	D	.	.	.	.	0.816788185225	0.81505	0.32482756668051943	0.32395	0.328214677008	0.34941	0.61630833149	0.55208	T	0.355784	0.72273	T	-0.238015	0.15602	T	-0.127898	0.61148	T	0.122214346533249	0.14644	T	0.70353	0.31362	T	0.11414343	0.26949	0.18414254	0.41448	0.11414343	0.26949	0.18414254	0.41447	-9.737	0.72322	D	0.16355523391145274	0.20159	0.483	0.63792	A	.	.	4.179930	0.62914	24.5	0.99792196704151559	0.87750	0.98570	0.84213	D	AEFGBCI	0.952379	0.96778	D	0.348005035770109	0.58634	4.036906	0.431392825411847	0.63529	4.588641	0.999999999997243	0.74766	0.554377	0.28877	0	0.518115	0.08659	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.31	5.31	0.75063	9.279000	0.94981	11.286000	0.91899	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	1.0:0.0:0.0:0.0	15.546	0.75839	670	0.60992	Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	605.83	36	chr17	10634181	.	A	G	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=207;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.729;SOR=1.552	GT:AD:DP:GQ:PL	0/0:28,0:28:60:0,60,900	5	0	1	0
chr17	11854048	11854048	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9553A:p.V3185I	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.0491460873035	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs533596673	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	6.573e-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	0.065	0.38633	T	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-1.24	0.78967	T	-0.94	0.25118	N	0.731	0.73645	0.225	0.86330	D	0.659	0.88152	D	10	0.8183477	0.81056	D	0.049146	0.63685	D	0.423	0.73152	0.422	0.46529	0.918259066885	0.91743	0.5025455206364047	0.50176	0.39136295111	0.40338	0.469020903111	0.34546	T	0.174928	0.52432	T	0.078481	0.61862	D	-0.125044	0.61385	T	0.967736840248108	0.68007	D	0.989851	0.96764	D	0.1585204	0.35659	0.15913677	0.37128	0.1585204	0.35659	0.15913677	0.37127	-7.564	0.58059	D	.	.	0.206	0.43200	B	.;.	.;.	4.613988	0.73203	26.0	0.99845611603358553	0.92576	0.98998	0.89743	D	AEFBIJ	0.876831	0.80108	D	0.866586210313776	0.90032	10.22292	0.819863212793549	0.91139	10.73786	0.999999998004377	0.74766	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	9.602000	0.97623	11.570000	0.93280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.0:1.0:0.0	19.572	0.95419	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2176.83	38	chr17	11854048	.	G	A	2176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.42;SOR=0.709	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1428	5	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain 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	.	.	.	.	.	.	.	.	0.1667	2785.06	36	chr17	11937502	.	G	T	2785.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.737;DP=331;ExcessHet=0.4139;FS=2.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.801;SOR=0.963	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1364	4	0	2	0
chr17	14236652	14236652	G	A	exonic	CDRT15	.	nonsynonymous SNV	CDRT15:NM_001007530:exon1:c.C182T:p.T61I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00432884689102	.	.	4.467e-05	0	0	0	0	8.857e-05	0	0	3.84e-05	1	26028	rs777478173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.008	0.67890	D	0.938	0.52538	P	0.413	0.44885	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	0.61	0.53516	T	-2.57	0.55501	D	0.127	0.12055	-1.0347	0.18951	T	0.078	0.31042	T	8	0.13855246	0.26350	T	0.004329	0.10529	T	0.058	0.16647	0.173	0.07894	0.462374447365	0.45861	0.10259702981371123	0.10189	1.44073316277	0.85972	0.557602405548	0.46929	T	0.069263	0.33665	T	-0.198197	0.21066	T	-0.522473	0.20045	T	0.317711755554804	0.25729	T	0.431557	0.11736	T	0.104910016	0.24802	0.20920306	0.45255	0.104910016	0.24801	0.20920306	0.45254	-2.901	0.09153	T	.	.	0.243	0.47773	B	.	.	1.531897	0.19653	14.37	0.99598941770050065	0.74101	0.00287	0.01543	N	AEFDI	0.022181	0.01077	N	-0.713867498134481	0.15630	0.7894513	-0.944171274611104	0.11059	0.5610582	1.18417523400118E-6	0.01202	0.553676	0.25195	0	0.514364	0.08380	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.596	-0.622	0.10980	1.054000	0.30064	0.454000	0.18551	0.171000	0.17763	0.208000	0.24400	0.000000	0.08366	0.026000	0.12556	.	.	.	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	802.83	91	chr17	14236652	.	G	A	802.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.666;DP=380;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=38.23;MQRankSum=-0.037;QD=9.34;ReadPosRankSum=-0.202;SOR=0.544	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	5	0	1	0
chr17	15553742	15553742	-	AAGCT	exonic	TVP23C;TVP23C-CDRT4	.	frameshift insertion	TVP23C:NM_001135036:exon3:c.182_183insAGCTT:p.F61Lfs*21,TVP23C-CDRT4:NM_001204478:exon3:c.182_183insAGCTT:p.F61Lfs*21,TVP23C:NM_145301:exon3:c.182_183insAGCTT:p.F61Lfs*21	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0008	7.492e-05	0	0.0001	3.84e-05	1	26028	rs201021525	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0007	0	0	0	0.0010	0.0008	0	7.015e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0003	0.0017	0.0001	0.0001	0.0009	0.0007	0	0	0	0	0.0017	0.0009	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1337.79	37	chr17	15553742	.	A	AAAGCT	1337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=291;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=-1.336;QD=12.74;ReadPosRankSum=1.5;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	5	0	1	0
chr17	15706488	15706488	C	A	exonic	ZNF286A	.	nonsynonymous SNV	ZNF286A:NM_001288643:exon3:c.C198A:p.N66K,ZNF286A:NM_001130842:exon4:c.C228A:p.N76K,ZNF286A:NM_001288642:exon4:c.C357A:p.N119K,ZNF286A:NM_001369440:exon4:c.C75A:p.N25K,ZNF286A:NM_020652:exon4:c.C228A:p.N76K	.	429	1087	6	0	0	6	0.00275229	.	.	.	3360753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0101674987852	0.0002	.	8.354e-05	0	0	0	0.0002	0.0001	0	6.488e-05	6.47e-05	10	154602	rs149952794	4.202e-05	4.241e-05	4.384e-05	4.018e-05	0.0002	3.334e-05	3.022e-05	5.488e-05	4.109e-05	0	0	0.0004	0	0.0003	0.0002	1.535e-05	0.0001	0.0001	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0002	1.714e-05	1.129e-05	1.171e-05	6.25e-06	0	0	0	0.0003	0	9.422e-05	0	4.41e-05	0	0.0002	0.065	0.78490	T	0.008	0.79402	D	0.336	0.33356	B	0.175	0.35598	B	0.030483	0.25300	N	0.194660	1	0.81001	D	4.945	0.99822	H	4.24	0.02590	T	-3.94	0.88431	D	0.69	0.69737	-1.0539	0.13332	T	0.032	0.13898	T	10	0.20111918	0.36183	T	0.010167	0.26390	T	0.163	0.42028	0.666	0.80401	0.316494231283	0.31262	0.47980457139404153	0.47900	0.140397205574	0.15837	0.69744849205	0.66775	T	0.030706	0.33142	T	-0.265168	0.12302	T	-0.435281	0.29338	T	0.508038699626923	0.32925	D	0.151185	0.01872	T	0.08778536	0.20455	0.17873809	0.40562	0.08778536	0.20455	0.17873809	0.40562	-8.119	0.62398	D	.	.	0.806	0.82973	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.277365	0.44887	22.0	0.99781447149837788	0.86780	0.44342	0.27297	N	AEFDBI	0.218642	0.34362	N	0.140788982135341	0.48377	3.05066	0.0783098892934571	0.43459	2.64726	0.0255063245779704	0.13653	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	3.7	0.41607	0.357000	0.19935	3.770000	0.39750	0.599000	0.40250	0.037000	0.20830	1.000000	0.68203	0.998000	0.85391	0.0:0.909:0.0:0.091	11.172	0.47806	749	0.51929	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;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;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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	746.83	35	chr17	15706488	.	C	A	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.113;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	5	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007549	0.000000	0.004121	0.013043	0.000000	0.017544	0.003546	0.016260	0.08333	1712.83	187	chr17	15738743	.	G	T	1712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=374;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.083;MQ=47.58;MQRankSum=-5.113;QD=9.16;ReadPosRankSum=-0.969;SOR=0.615	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1377	5	0	1	0
chr17	16073554	16073554	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon27:c.G3734A:p.R1245Q,NCOR1:NM_006311:exon28:c.G3686A:p.R1229Q	.	442	1072	8	0	0	8	0.00371747	.	.	.	3202474	NCOR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.533	0.0974660508779	0.0006	0.000998403	0.0008	0.0003	0.0003	0	0.0002	0.0008	0	0.0022	0.0007568	117	154602	rs139458532	0.0011	0.0011	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	0.0003	0.0003	0	5.093e-05	0.0002	0.0031	0.0011	0.0011	0.0018	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0005	0.0011	0.0009	0.0002	0	0.0003	0	0	9.434e-05	0.0034	0.0012	0	0.0021	0.009	0.57480	D	0.336	0.49390	T	0.999	0.77913	D	0.978	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	1.7	0.43825	L	-1.63	0.82440	D	-0.99	0.27669	N	0.738	0.74371	0.276	0.87169	D	0.622	0.86693	D	10	0.08501911	0.14311	T	0.097466	0.76778	D	0.533	0.80367	.	.	0.827632526574	0.82599	0.3888524522618139	0.38800	1.03009341363	0.75405	0.747716069221	0.74109	T	0.557126	0.85109	D	-0.104618	0.35658	T	0.0696838	0.74888	D	0.048041525105693	0.05151	T	0.984502	0.94819	D	0.28056276	0.51103	0.20539178	0.44706	0.28056276	0.51102	0.20539178	0.44705	-3.482	0.18437	T	.	.	0.339	0.57927	B	.;.;.	.;.;.	5.095103	0.85098	28.5	0.99426257125797168	0.64032	0.98028	0.78995	D	AEFBI	0.688063	0.64919	D	0.72523267259875	0.81287	7.486819	0.764476381199915	0.87236	9.152527	0.99999465727442	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.91	5.91	0.95240	6.428000	0.73308	5.974000	0.52050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.293	0.94099	237	0.90758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	650.83	38	chr17	16073554	.	C	T	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.702;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.169;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	5	0	1	0
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	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	0	0	0.025524	0.000000	0.019231	0.048193	0.000000	0.037037	0.033333	0.021930	0.08333	597.83	44	chr17	16772639	.	C	T	597.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.35;MQRankSum=-0.871;QD=13.59;ReadPosRankSum=-0.652;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	5	0	1	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.08333	409.83	33	chr17	17158688	.	C	T	409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.634;DP=220;ExcessHet=0;FS=7.109;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.867;QD=8.72;ReadPosRankSum=0.466;SOR=0.152	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1049	5	0	1	0
chr17	17166687	17166687	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.C5096T:p.T1699M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00119808	0.0019	0	0	0	0.0073	0.0043	0	0.0003	0.0011255	174	154602	rs113660434	0.0062	0.0049	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0027	0.0009	7.786e-05	0.0024	0.0016	0.0072	0.0058	0.0003	0.0038	0.0038	0.0042	0.0033	0.0071	0.0035	0.0034	0.0066	0.0064	0.0008	0	0.0025	0.0006	0	0.0012	0	0.0071	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1505.83	36	chr17	17166687	.	C	T	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.43;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.08;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr17	17167499	17167499	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.C5908T:p.R1970C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	.	0.00279553	0.0009	0.0112	0	0	0	0.0004	0.0065	0	0.0002523	39	154602	rs138734388	0.0004	0.0003	0.0004	0.0004	0.0070	0.0003	0.0003	0.0061	0.0058	0.0070	0.0011	0	0	0	0.0034	0.0002	0.0007	1.312e-05	0.0017	0.0017	0.0017	0.0017	0.0053	0.0015	0.0014	0.0047	0.0045	0.0053	0	0.0011	0	0	0	0.0068	0.0001	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1486.83	36	chr17	17167499	.	C	T	1486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=292;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.643;SOR=0.822	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr17	18138127	18138127	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon16:c.C4888T:p.R1630C	Deafness, autosomal recessive 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	272122	not_provided|Childhood_onset_hearing_loss|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|.|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	.	0.0023	0.00359425	0.0008	0.0083	0.0003	0	0	0.0001	0.0022	0	0.0008473	131	154602	rs138861831	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0092	0.0089	0.0101	0.0006	0	0	0	0.0029	0.0002	0.0009	0	0.0026	0.0026	0.0028	0.0024	0.0089	0.0024	0.0023	0.0082	0.0079	0.0089	0	0.0007	0	0	0	0.0068	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.47	0.88997	D	-6.98	0.93582	D	0.558	0.63035	0.695	0.93114	D	0.786	0.92740	D	9	0.011051863	0.00243	T	.	.	.	0.620	0.85249	.	.	0.909497451058	0.90859	0.42941685205003743	0.42858	.	.	0.568389952183	0.48449	T	0.267439	0.97209	T	-0.126339	0.32091	T	0.0524274	0.73743	D	0.122083781124207	0.14632	T	0.976102	0.91674	D	0.8456483	0.87016	0.80183405	0.88385	0.8423644	0.86779	0.82665604	0.89968	-7.532	0.57835	D	0.6327317834138518	0.70235	0.151	0.33435	B	.;.;.	.;.;.	5.010012	0.83197	28.0	0.99680601399206259	0.79241	0.94927	0.62815	D	AEFBI	0.627005	0.60962	D	0.77418596279507	0.84469	8.296174	0.655713987150523	0.79038	6.998433	0.999693112610274	0.41870	0.516011	0.20929	0	0.59043	0.45803	0	0.657636	0.52715	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	1.781000	0.38274	4.837000	0.45250	0.599000	0.40250	0.883000	0.31049	1.000000	0.68203	0.994000	0.71098	0.1371:0.8628:0.0:0.0	15.708	0.77358	212	0.91760	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	832.83	30	chr17	18138127	.	C	T	832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=205;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-2.935;SOR=1.17	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	5	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	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	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.08333	449.83	35	chr17	18148547	.	C	T	449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.997;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=2.65;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	5	0	1	0
chr17	18241514	18241514	C	T	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon18:c.C2566T:p.R856C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0294542512434	0.0002	.	3.354e-05	9.856e-05	0	0	0	3.046e-05	0	6.092e-05	3.23e-05	5	154602	rs370606765	6.295e-05	6.362e-05	7.897e-05	4.676e-05	8.004e-05	5.229e-05	4.847e-05	6.609e-05	6.14e-05	2.987e-05	0	0	0	0	0	8.004e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.802	0.58266	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.375	0.68372	M	3.27	0.06602	T	-6.76	0.92736	D	0.916	0.94904	-1.1166	0.02559	T	0.059	0.24686	T	10	0.81876063	0.81094	D	0.029454	0.51963	D	0.298	0.61843	.	.	0.539848886575	0.53637	0.7864953964946603	0.78601	1.17356924394	0.79831	0.904398441315	0.96912	D	0.871864	0.97239	D	0.072818	0.61189	D	0.0483495	0.73475	D	0.740017645168515	0.42738	D	.	.	.	0.7946897	0.83568	0.4795653	0.69856	0.7946897	0.83570	0.4795653	0.69857	-11.721	0.83466	D	.	.	0.963	0.88388	P	.;.	.;.	5.097714	0.85156	28.5	0.99919812850219358	0.98654	0.89831	0.50554	D	AEFGBHCI	0.746000	0.68850	D	0.571875087036125	0.71424	5.648722	0.516209282061567	0.69078	5.309601	0.999925475674354	0.46280	0.67177	0.52595	0	0.694456	0.67091	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.69	3.72	0.41857	4.119000	0.57638	3.367000	0.37903	0.587000	0.30956	1.000000	0.71638	0.998000	0.33993	0.986000	0.61781	0.0:0.8625:0.0:0.1375	12.198	0.53617	180	0.92993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2961.83	74	chr17	18241514	.	C	T	2961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.577;DP=537;ExcessHet=0;FS=11.371;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.193;SOR=0.312	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	5	0	1	0
chr17	18264550	18264550	G	A	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.G1151A:p.R384H,MIEF2:NM_148886:exon4:c.G1184A:p.R395H	.	.	.	.	.	.	.	.	.	.	.	2194151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.148	0.00416714308504	.	.	8.451e-06	0	0	0	0	0	0	6.099e-05	1.29e-05	2	154602	rs527450134	1.166e-05	1.163e-05	9.552e-06	1.378e-05	5.974e-05	7.1e-06	5.81e-06	1.583e-05	9.3e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	8.094e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.003	0.08700	B	0.002133	0.37183	N	0.322330	1	0.81001	D	0.55	0.14455	N	3.33	0.06138	T	2.87	0.00160	N	0.038	0.01203	-0.9198	0.45581	T	0.007	0.02518	T	10	0.029523492	0.01079	T	0.004167	0.10026	T	0.148	0.39182	0.643	0.78010	0.0401082797425	0.02173	0.16931112300500056	0.16851	0.378893580639	0.39291	0.329810142517	0.14905	T	0.016306	0.13502	T	-0.505373	0.00533	T	-0.76011	0.03108	T	0.0205991728034991	0.00760	T	.	.	.	0.011461603	0.00017	0.032491807	0.01993	0.011461603	0.00017	0.032491807	0.01993	-3.443	0.17239	T	.	.	0.058	0.00876	B	.;.	.;.	-0.096127	0.03663	0.736	0.81989055753239515	0.13962	0.09301	0.15085	N	AEFBCI	0.065292	0.12728	N	-1.31151935522827	0.03542	0.1584184	-1.28942514595543	0.04573	0.2159884	0.965079111860847	0.28805	0.732398	0.92422	0	0.743671	0.97443	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.45	-4.73	0.03022	-0.022000	0.12424	-0.723000	0.07696	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.786000	0.37147	0.7423:0.0:0.2577:0.0	14.035	0.64158	258	0.89879	Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	933.83	33	chr17	18264550	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=242;ExcessHet=0;FS=7.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=1.19;SOR=1.839	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr17	18355980	18355980	A	T	exonic	SHMT1	.	startloss	SHMT1:NM_004169:exon2:c.T2A:p.M1?,SHMT1:NM_148918:exon2:c.T2A:p.M1?	.	430	1082	10	0	0	10	0.00459982	.	.	.	727048	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.302	0.366792957152	0.0012	0.00159744	0.0017	9.649e-05	0.0006	0	0.0002	0.0020	0.0022	0.0035	0.00163	252	154602	rs143807950	0.0013	0.0013	0.0012	0.0014	0.0097	0.0012	0.0012	0.0077	0.0070	0.0002	0.0006	0.0108	0	7.491e-05	0.0097	0.0010	0.0020	0.0037	0.0010	0.0010	0.0011	0.0010	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0044	0.0010	0.0069	0	9.42e-05	0.0068	0.0011	0.0033	0.0035	0.0	0.91255	D	0.003	0.76473	D	0.932	0.51990	P	0.888	0.63021	P	0.017431	0.27726	N	0.426630	1	0.81001	D	.	.	.	1.6	0.28604	T	0.08	0.11008	N	0.782	0.77883	-0.6305	0.63549	T	0.187	0.53676	T	9	0.0062612593	0.00329	T	0.366793	0.92648	D	0.302	0.62290	.	.	0.711987036522	0.70946	0.755027990591519	0.75449	.	.	.	.	.	0.095368	0.39606	T	-0.125489	0.32228	T	0.0445457	0.73226	D	0.0804779780247272	0.10049	T	0.9	0.65058	D	0.897815	0.91188	0.7575433	0.85673	0.897815	0.91190	0.7575433	0.85673	-10.187	0.75776	D	.	.	.	.	.	.;.;.;.	.;.;.;.	2.207519	0.28159	17.70	0.87363273167121569	0.17174	0.25323	0.22664	N	AEFBI	0.033666	0.04036	N	0.029591667677355	0.43204	2.617981	-0.0683619102116223	0.36706	2.139627	0.616448348340216	0.21847	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	1.258000	0.32547	4.376000	0.43165	0.745000	0.86679	0.109000	0.22973	1.000000	0.68203	0.032000	0.13371	1.0:0.0:0.0:0.0	14.393	0.66558	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008569	0.000000	0.010870	0.023392	0.000000	0.017241	0.003049	0.000000	0.08333	636.83	31	chr17	18355980	.	A	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.396;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	5	0	1	0
chr17	18381623	18381623	G	A	exonic	EVPLL	.	nonsynonymous SNV	EVPLL:NM_001145127:exon4:c.G239A:p.R80Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0085	0.00199681	0.0016	0.0168	0.0006	0	0	0.0002	0.0022	0	0.0014424	223	154602	rs201966669	0.0007	0.0007	0.0008	0.0006	0.0190	0.0007	0.0006	0.0178	0.0173	0.0190	0.0010	0	0	5.619e-05	0.0021	0.0002	0.0015	2.319e-05	0.0055	0.0055	0.0058	0.0052	0.0193	0.0052	0.0051	0.0182	0.0177	0.0193	0	0.0012	0	0	9.414e-05	0.0068	0.0002	0.0028	0	0.0	0.91255	D	0.097	0.39190	T	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	0.749831	0.29649	N	1.815	0.47718	L	2.19	0.18724	T	-3.81	0.71882	D	0.253	0.28616	-1.0607	0.11582	T	0.028	0.11971	T	8	0.0061182976	0.00138	T	.	.	.	0.147	0.38986	.	.	0.258779203287	0.25495	0.48705597124035127	0.48625	0.454068681567	0.45095	.	.	.	0.062516	0.31937	T	-0.495745	0.00604	T	-0.468624	0.25664	T	0.0704597657856039	0.08715	T	.	.	.	0.2519323	0.48205	0.346878	0.60350	0.2519323	0.48205	0.346878	0.60349	-4.444	0.30149	T	.	.	0.112	0.21803	B	.	.	3.951838	0.57900	23.9	0.99794690856142099	0.88017	0.70534	0.34630	D	AEFDBI	0.379889	0.46274	N	-0.0278677665544264	0.40596	2.413582	-0.214852655494757	0.31003	1.750564	0.0176355098133766	0.12972	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	.	.	.	5.695000	0.67940	8.418000	0.77142	0.174000	0.17776	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	2.0E-4:0.0:0.9998:0.0	6.516	0.21447	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1419.83	33	chr17	18381623	.	G	A	1419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.966;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.94;MQRankSum=0.924;QD=11.45;ReadPosRankSum=-0.781;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1124	5	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S,TRIM16L:NM_001353225:exon2:c.G100A:p.G34S,TRIM16L:NM_001353224:exon3:c.G100A:p.G34S,TRIM16L:NM_001353221:exon5:c.G406A:p.G136S,TRIM16L:NM_001353219:exon6:c.G262A:p.G88S,TRIM16L:NM_001353222:exon7:c.G100A:p.G34S,TRIM16L:NM_001353220:exon8:c.G100A:p.G34S,TRIM16L:NM_001353223:exon8:c.G100A:p.G34S	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010776	0.000000	0.013624	0.012500	0.000000	0.017241	0.012821	0.000000	0.08333	2531.83	226	chr17	18727657	.	G	A	2531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=401;ExcessHet=0;FS=3.74;MLEAC=1;MLEAF=0.083;MQ=55.36;MQRankSum=-1.316;QD=11.2;ReadPosRankSum=-1.257;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	5	0	1	0
chr17	18735446	18735446	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon5:c.G1033A:p.G345R,TRIM16L:NM_001353224:exon6:c.G1033A:p.G345R,TRIM16L:NM_001353221:exon8:c.G1339A:p.G447R,TRIM16L:NM_001353219:exon9:c.G1195A:p.G399R,TRIM16L:NM_001353222:exon10:c.G1033A:p.G345R,TRIM16L:NM_001353220:exon11:c.G1033A:p.G345R,TRIM16L:NM_001353223:exon11:c.G1033A:p.G345R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0113587274351	.	.	1.012e-05	0	0	0	0	1.807e-05	0	0	3.84e-05	1	26028	rs776311111	2.743e-06	2.736e-06	5.456e-06	0	8.984e-05	6.4e-07	4.3e-07	2.381e-05	1.26e-05	8.984e-05	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.116	0.36497	T	0.005	0.12996	B	0.005	0.11217	B	0.160461	0.17680	U	0.214397	1	0.08975	N	0	0.06538	N	-0.21	0.66294	T	-0.68	0.19509	N	0.113	0.10056	-0.9960	0.31028	T	0.121	0.42187	T	10	0.07701135	0.12103	T	0.011359	0.28906	T	0.039	0.10176	0.173	0.07894	0.180583059064	0.17676	0.16126680076532798	0.16047	.	.	0.506324052811	0.39708	T	0.006901	0.06325	T	-0.332891	0.05895	T	-0.531936	0.19094	T	0.0232098615908706	0.01049	T	0.385361	0.09439	T	0.06285279	0.13171	0.05797879	0.10636	0.06285279	0.13171	0.05797879	0.10635	-3.938	0.22873	T	.	.	0.144	0.31708	B	.	.	0.594231	0.09625	6.400	0.78020063978242638	0.12121	0.05743	0.11670	N	AEFBI	.	.	.	-1.11665818022938	0.06346	0.2918938	-1.13740884128039	0.06996	0.3387042	1.26363685557265E-5	0.02871	0.693126	0.56070	0	0.071	0.01855	3	0.659464	0.59346	0	0.655142	0.61905	0	.	.	3.35	1.15	0.19876	0.639000	0.24378	2.188000	0.31185	0.318000	0.19305	0.000000	0.06391	0.629000	0.25856	0.012000	0.09680	0.0:0.446:0.554:0.0	9.014	0.35324	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2624.83	45	chr17	18735446	.	G	A	2624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=451;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=43.06;MQRankSum=-2.152;QD=12.1;ReadPosRankSum=-0.405;SOR=0.714	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1590	5	0	1	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M,FBXW10:NM_001267586:exon9:c.G1672A:p.V558M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004284	0.000000	0.005495	0.004464	0.000000	0.008929	0.003968	0.000000	0.08333	1907.83	105	chr17	18766830	.	G	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=276;ExcessHet=0;FS=5.386;MLEAC=1;MLEAF=0.083;MQ=45.43;MQRankSum=-1.952;QD=18.17;ReadPosRankSum=1.65;SOR=0.313	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	5	0	1	0
chr17	19799509	19799509	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon17:c.G1508A:p.S503N,ULK2:NM_014683:exon17:c.G1508A:p.S503N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.011469952623	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329548207	6.966e-07	2.736e-06	1.386e-06	0	9.069e-07	0	0	.	.	0	0	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.369	0.16522	T	0.181	0.29111	B	0.036	0.22909	B	0.000000	0.84330	D	0.081517	0.998887	0.45620	D	1.1	0.28011	L	1.26	0.36330	T	-0.78	0.21644	N	0.305	0.35938	-1.0505	0.14258	T	0.095	0.35871	T	10	0.15645507	0.29466	T	0.01147	0.29127	T	0.106	0.30130	0.138	0.04187	0.556025216835	0.55262	0.30641304956445936	0.30554	0.181457915209	0.20398	0.474775105715	0.35339	T	0.112937	0.42960	T	-0.247002	0.14468	T	-0.592578	0.13443	T	0.529470980167389	0.33714	D	0.824917	0.48720	T	0.2822883	0.51267	0.23925479	0.49270	0.2822883	0.51267	0.23925479	0.49269	-4.989	0.36720	T	0.1206689685605317	0.11372	0.086	0.13032	B	.;.	.;.	3.243235	0.44281	21.9	0.97455512053453541	0.34053	0.96428	0.69091	D	AEFBI	0.592048	0.58790	D	0.015696462005152	0.42568	2.567369	0.160224985984403	0.47686	2.99514	0.999986015014741	0.51787	0.651	0.46895	0	0.588015	0.36545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.8	4.83	0.61880	4.409000	0.59524	3.273000	0.37174	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8668:0.1332:0.0	16.152	0.81438	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	453.83	33	chr17	19799509	.	C	T	453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.162;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=1.07;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	5	0	1	0
chr17	19826154	19826154	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon11:c.G820A:p.G274S,ULK2:NM_014683:exon11:c.G820A:p.G274S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00523944444534	.	.	2.476e-05	0	8.642e-05	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs777857655	3.043e-06	1.163e-05	4.519e-06	1.536e-06	3.006e-05	7.1e-07	4.8e-07	7.8e-07	2.2e-07	0	3.006e-05	0	0	0	0	2.911e-06	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.035294	0.24662	N	0.427833	0.999657	0.20771	N	-0.345	0.03330	N	1.86	0.24285	T	1.29	0.00961	N	0.039	0.01274	-1.0403	0.17223	T	0.024	0.10013	T	10	0.034044296	0.01599	T	0.005239	0.13371	T	0.090	0.26093	0.3	0.26683	0.429320821379	0.42548	0.1979296048404415	0.19709	0.129854084997	0.14643	0.50564789772	0.39614	T	0.064615	0.32480	T	-0.371096	0.03539	T	-0.643051	0.09449	T	0.101700305938721	0.12543	T	0.536146	0.17993	T	0.25566798	0.48603	0.17895454	0.40598	0.25566798	0.48602	0.17895454	0.40598	-0.515	0.00592	T	0.03587338635800552	0.00205	0.072	0.04396	B	.;.	.;.	1.777914	0.22607	15.69	0.76907118812831432	0.11658	0.82901	0.42068	D	AEFDI	0.174120	0.30124	N	-0.488200876441356	0.22467	1.199857	-0.216616223631892	0.30939	1.746458	0.00370205122068494	0.10244	0.651	0.46895	0	0.588015	0.36545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.33	5.33	0.75683	0.774000	0.26337	1.694000	0.28089	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1655:0.8345:0.0:0.0	13.595	0.61451	502	0.75873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	439.83	47	chr17	19826154	.	C	T	439.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.075;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.321;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,965	5	0	1	0
chr17	20458199	20458199	T	C	exonic	LGALS9B	.	nonsynonymous SNV	LGALS9B:NM_001042685:exon3:c.A317G:p.Q106R,LGALS9B:NM_001367292:exon3:c.A317G:p.Q106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0036	0.00359425	0.0018	0.0138	0.0015	0	0	0.0001	0.0036	0	0.0008452	22	26028	rs372686364	0.0004	0.0004	0.0004	0.0003	0.0120	0.0003	0.0003	0.0111	0.0107	0.0120	0.0008	0	0	0	0.0010	2.249e-05	0.0010	1.161e-05	0.0031	0.0032	0.0030	0.0031	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0013	0	0	0	0	2.96e-05	0.0029	0	0.061	0.37118	T	0.507	0.13713	T	0.942	0.52977	P	0.745	0.55870	P	0.519065	0.11762	N	0.791977	0.99982	0.20203	N	2.495	0.72670	M	3.44	0.05375	T	-2.96	0.61722	D	0.359	0.40063	-1.0294	0.20649	T	0.021	0.08824	T	10	0.004733801	0.00100	T	.	.	.	0.089	0.25827	.	.	0.0297737177859	0.01360	0.09178540442760241	0.09111	.	.	0.44190710783	0.30837	T	0.009251	0.08431	T	-0.523532	0.00420	T	-0.513763	0.20929	T	0.0402443480238372	0.03734	T	0.816718	0.47282	T	0.20141828	0.42152	0.2049842	0.44648	0.20141828	0.42152	0.2049842	0.44647	-9.0	0.68587	D	.	.	0.123	0.28693	B	.;.	.;.	3.254637	0.44482	21.9	0.9241397802491782	0.21829	0.64774	0.32517	D	AEFGI	0.183385	0.31071	N	0.00738207646307748	0.42191	2.537446	-0.0958846654302477	0.35559	2.058756	8.07439376965023E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	1.92	1.92	0.24912	1.531000	0.35624	0.814000	0.21781	0.450000	0.21304	0.005000	0.17040	0.000000	0.08366	0.927000	0.46353	0.0:0.0:0.3181:0.6819	4.961	0.13414	819	0.41190	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	0.001674	0.012048	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.08333	1048.83	33	chr17	20458199	.	T	C	1048.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.247;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.25;MQRankSum=-0.638;QD=11.4;ReadPosRankSum=0.23;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1451	5	0	1	0
chr17	20579850	20579850	G	A	exonic	CDRT15L2	.	nonsynonymous SNV	CDRT15L2:NM_001190790:exon1:c.G107A:p.R36H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00508874945449	.	.	1.252e-05	0	0	0	0	0	0	8.003e-05	3.84e-05	1	26028	rs775897182	1.096e-05	1.094e-05	5.451e-06	1.653e-05	0.0001	6.49e-06	5.25e-06	6.267e-05	4.773e-05	2.99e-05	0	0	2.52e-05	0	0	3.599e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.33	0.33268	L	0.14	0.60854	T	-2.78	0.58896	D	0.155	0.16028	-0.9497	0.41023	T	0.149	0.47610	T	7	0.11070377	0.20702	T	0.005089	0.12908	T	0.093	0.26882	0.292	0.25400	0.270001397563	0.26616	0.041626339339827075	0.04107	0.641984679815	0.57776	0.48286396265	0.36451	T	0.08074	0.36434	T	-0.370251	0.03581	T	-0.56411	0.15992	T	0.134818294350909	0.15820	T	0.573543	0.20534	T	0.04210463	0.06324	0.041941147	0.04881	0.04210463	0.06324	0.041941147	0.04880	-5.6	0.42792	T	.	.	0.119	0.24430	B	.	.	0.185251	0.05720	2.167	0.98041087854755971	0.37789	0.00379	0.01920	N	AEFI	0.027827	0.02344	N	-0.688117120222835	0.16359	0.8327669	-0.883837606019797	0.12477	0.6419983	3.04135220058678E-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	1.05	0.19280	-0.105000	0.10876	-1.034000	0.06538	-0.916000	0.02226	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.426	0.15725	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1570.83	38	chr17	20579850	.	G	A	1570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.48;MQRankSum=-2.511;QD=14.68;ReadPosRankSum=2.11;SOR=0.643	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1581,0,1127	5	0	1	0
chr17	21416279	21416279	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C937T:p.R313C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.555151215336	7.7e-05	.	0.0005	0.0055	8.64e-05	0	0	1.499e-05	0	6.057e-05	0.0004463	69	154602	rs142223673	2.271e-05	0.0004	2.325e-05	2.216e-05	0.0007	1.62e-05	1.425e-05	0.0005	0.0004	0.0007	4.554e-05	0	2.532e-05	0	0.0004	1.806e-06	6.668e-05	0	0.0035	0.0064	0.0035	0.0035	0.0121	0.0032	0.0031	0.0113	0.0109	0.0121	0	0.0017	0	0	0	0	5.879e-05	0.0019	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	4.55	0.99125	H	-3.57	0.94904	D	-7.56	0.95216	D	0.951	0.95956	1.070	0.98577	D	0.939	0.98006	D	10	0.31487632	0.48924	T	0.555151	0.95916	D	0.942	0.98780	.	.	0.787664516009	0.78569	0.8461667623248624	0.84577	0.53005267504	0.50556	0.853299856186	0.90111	D	0.682032	0.90673	D	0.508921	0.94551	D	0.493254	0.94471	D	0.999583780765533	0.98022	D	0.996534	0.98758	D	0.8314012	0.86000	0.6497574	0.79511	0.8314012	0.86002	0.6497574	0.79512	-11.962	0.84666	D	.	.	0.986	0.92685	P	.;.	.;.	5.634610	0.92701	32	0.99931333158500601	0.99387	0.92705	0.56344	D	AEFDGBI	0.723337	0.67298	D	0.778187742814742	0.84725	8.368358	0.64828242852449	0.78483	6.885356	0.999994931666027	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.44	3.31	0.37025	3.921000	0.56166	4.189000	0.42390	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1544:0.7378:0.1078:0.0	12.735	0.56591	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	448.83	211	chr17	21416279	.	C	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.99;DP=1171;ExcessHet=0;FS=3.676;MLEAC=1;MLEAF=0.083;MQ=32.04;MQRankSum=-2.309;QD=2.29;ReadPosRankSum=2.08;SOR=0.388	GT:AD:DP:GQ:PL	0/0:199,0:199:99:0,120,1800	5	0	1	0
chr17	21416418	21416418	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C1076T:p.A359V	.	161	1359	2	0	0	2	0.000735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.268957265768	.	.	0.0002	0	0	0	0	5.995e-05	0	0.0010	.	.	.	rs782285426	8.919e-05	0.0013	5.863e-05	0.0001	0.0014	7.644e-05	7.188e-05	0.0012	0.0011	2.989e-05	0	0	0	0	0.0007	2.698e-06	6.643e-05	0.0014	0.0009	0.0014	0.0005	0.0013	0.0241	0.0007	0.0007	0.0205	0.0191	0.0004	0	6.53e-05	0	0	0	0	0	0.0005	0.0241	0.027	0.46513	D	0.06	0.45744	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.325	0.90780	M	-3.41	0.94306	D	-3.67	0.70191	D	0.81	0.80572	1.009	0.97336	D	0.921	0.97395	D	10	0.26578802	0.44078	T	0.268957	0.89803	D	0.794	0.93227	0.812	0.92788	0.858849601297	0.85748	0.6967236753524896	0.69613	0.221318415816	0.24671	0.802787721157	0.82388	T	0.478475	0.80828	T	0.309263	0.83690	D	0.206459	0.83478	D	0.92246401309967	0.58262	D	0.961204	0.85427	D	0.35010028	0.57075	0.34781364	0.60430	0.35010028	0.57075	0.34781364	0.60430	-10.019	0.74026	D	.	.	0.555	0.68780	A	.;.	.;.	4.336541	0.66495	25.0	0.99911685862359478	0.98095	0.97678	0.76352	D	AEFDGBI	0.945005	0.95279	D	0.84481498127133	0.88810	9.720894	0.746557245079037	0.85898	8.720346	1.0	0.98316	0.700653	0.57754	0	0.578056	0.33634	0	0.576033	0.28219	0	0.581314	0.35197	2	.	.	5.65	5.65	0.86881	7.763000	0.84121	7.731000	0.67736	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.592000	0.31189	0.0:1.0:0.0:0.0	19.713	0.96098	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1059.83	318	chr17	21416418	.	C	T	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.999;DP=1764;ExcessHet=0;FS=0.514;MLEAC=1;MLEAF=0.083;MQ=45.37;MQRankSum=-5.695;QD=3.97;ReadPosRankSum=0.49;SOR=0.626	GT:AD:DP:GQ:PL	0/0:309,0:309:99:0,120,1800	5	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition 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	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1667	5454.06	33	chr17	27647035	.	G	T	5454.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.144;DP=626;ExcessHet=0.4139;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.46;ReadPosRankSum=0.548;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	4	0	2	0
chr17	28400676	28400676	T	C	exonic	SLC46A1	.	nonsynonymous SNV	SLC46A1:NM_001242366:exon3:c.A1172G:p.N391S,SLC46A1:NM_080669:exon4:c.A1256G:p.N419S	Folate malabsorption, hereditary, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1335425	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.0153387747541	.	0.000399361	5.923e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs141992236	4.106e-05	4.104e-05	3.813e-05	4.403e-05	0.0013	3.246e-05	2.921e-05	0.0010	0.0008	0.0013	8.956e-05	0	0	0	0	1.799e-06	0.0002	0	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	0	0.0009	0	.	.	.	0.161	0.32568	T	0.323	0.33082	B	0.07	0.27859	B	0.000303	0.45977	D	0.272597	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.286	0.32921	-0.7054	0.60178	T	0.244	0.61260	T	9	0.050952762	0.04904	T	0.015339	0.36015	T	.	.	.	.	0.327952845175	0.32413	0.20926224354443512	0.20842	.	.	0.570219874382	0.48709	T	0.239973	0.60820	T	-0.464861	0.00916	T	-0.48105	0.24336	T	0.101941809058189	0.12569	T	0.933007	0.74900	D	0.061097395	0.12615	0.100340396	0.23989	0.06732459	0.14569	0.106733985	0.25683	-1.607	0.01998	T	0.07602946007041217	0.03438	0.065	0.03336	B	.;.	.;.	2.482169	0.32012	18.91	0.98935502663203589	0.48826	0.96369	0.68801	D	AEFBI	0.607087	0.59718	D	-0.0282701067115175	0.40579	2.412183	0.133738022145887	0.46285	2.877032	0.988628086067373	0.31576	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	4.795000	0.62183	3.516000	0.38871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.1427:0.8573	12.158	0.53390	131	0.94738	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1342.83	106	chr17	28400676	.	T	C	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=277;ExcessHet=0;FS=1.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.218;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	5	0	1	0
chr17	28524741	28524741	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C362T:p.A121V,FOXN1:NM_001369369:exon3:c.C362T:p.A121V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727081	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy|FOXN1-related_disorder	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095|.	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0240139439974	.	0.000599042	0.0005	0	9.289e-05	0	0	0	0.0013	0.0032	0.0003622	56	154602	rs557541901	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0007	7.197e-06	0.0002	0.0030	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0027	4.952e-05	3.958e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.79	0.03201	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.892947	0.07307	N	1.051680	0.999996	0.08975	N	-0.895	0.01383	N	-2.93	0.91800	D	-0.31	0.12099	N	0.04	0.01421	-0.6425	0.63039	T	0.426	0.76930	T	10	0.0043040216	0.00087	T	0.024014	0.47001	T	0.207	0.49555	0.302	0.27003	0.220282294035	0.21616	0.07891657928715783	0.07826	0.142915156258	0.16124	0.293551087379	0.09442	T	0.19183	0.54680	T	-0.420646	0.01694	T	-0.380997	0.35606	T	0.0218604686198882	0.00893	T	0.149985	0.01257	T	0.033854887	0.03686	0.049713943	0.07653	0.03463723	0.03924	0.06498895	0.13105	-4.547	0.31498	T	0.09217786766913112	0.05928	0.059	0.01290	B	.;.	.;.	1.066292	0.14482	11.05	0.84350167853480496	0.15240	0.04033	0.09471	N	AEFGBCI	0.023063	0.01235	N	-1.12426662951459	0.06214	0.2854425	-1.02487346746542	0.09239	0.4585508	0.99996456375352	0.48965	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	-2.7	0.05651	0.050000	0.14004	0.581000	0.19707	-0.114000	0.14653	0.405000	0.26210	0.773000	0.26716	0.960000	0.51673	0.1314:0.4546:0.148:0.266	3.613	0.07611	152	0.94023	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1342.83	42	chr17	28524741	.	C	T	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.328;DP=290;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.076;SOR=0.601	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr17	28642973	28642973	A	C	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001321560:exon5:c.T411G:p.H137Q,KIAA0100:NM_001321561:exon5:c.T411G:p.H137Q,KIAA0100:NM_014680:exon5:c.T411G:p.H137Q	.	417	1074	31	0	0	31	0.0142267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	.	0.0018	0.00439297	0.0035	0.0006	0.0009	0	0.0021	0.0032	0.0022	0.0108	0.0032082	496	154602	rs149451782	0.0024	0.0025	0.0022	0.0027	0.0097	0.0024	0.0024	0.0091	0.0089	0.0005	0.0017	0.0128	2.525e-05	0.0019	0.0084	0.0018	0.0030	0.0097	0.0019	0.0019	0.0018	0.0020	0.0103	0.0017	0.0016	0.0081	0.0072	0.0002	0	0.0024	0.0092	0	0.0020	0.0068	0.0020	0.0028	0.0103	0.006	0.61437	D	0.022	0.57587	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.998413	0.81001	D	1.1	0.28011	L	1.64	0.27822	T	-5.28	0.84246	D	0.885	0.88356	-1.0606	0.11607	T	0.105	0.38562	T	10	0.010204822	0.00228	T	.	.	.	0.370	0.68930	0.727	0.86111	0.39843156188	0.39459	0.6512935834994144	0.65065	0.787135550777	0.65582	0.709600806236	0.68535	T	0.087091	0.37866	T	-0.268044	0.11976	T	-0.149842	0.59257	T	0.0463707807414464	0.04851	T	0.830817	0.49719	T	0.56363624	0.70710	0.56988955	0.75096	0.56363624	0.70711	0.56988955	0.75097	-2.606	0.06549	T	.	.	0.426	0.60983	A	.	.	1.724629	0.21953	15.42	0.98977952168684424	0.49680	0.80445	0.40081	D	AEFDBCI	0.239770	0.36167	N	0.0789139029398264	0.45480	2.803825	-0.00260116357693962	0.39599	2.350308	0.999404282954691	0.39524	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	-0.728	0.10599	0.558000	0.23174	-0.616000	0.08197	0.756000	0.94297	0.989000	0.36753	0.000000	0.08366	0.983000	0.59808	0.4938:0.0:0.5062:0.0	10.700	0.45115	242	0.90534	FMP27, 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	0.008056	0.005051	0.009511	0.002924	0.000000	0.000000	0.006098	0.015152	0.08333	784.83	33	chr17	28642973	.	A	C	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.44;DP=245;ExcessHet=0;FS=1.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=3.02;SOR=0.485	GT:AD:DP:GQ:PL	0/1:41,33:74:99:795,0,1042	5	0	1	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I,SUPT6H:NM_001320755:exon17:c.C1960A:p.L654I	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.08333	1207.83	33	chr17	28683349	.	C	A	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=345;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.09;SOR=0.62	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	5	0	1	0
chr17	28704048	28704048	G	A	exonic	PROCA1	.	nonsynonymous SNV	PROCA1:NM_001304951:exon2:c.C173T:p.T58I,PROCA1:NM_001304954:exon4:c.C305T:p.T102I,PROCA1:NM_001366302:exon4:c.C443T:p.T148I,PROCA1:NM_152465:exon4:c.C521T:p.T174I,PROCA1:NM_001304949:exon5:c.C494T:p.T165I,PROCA1:NM_001304952:exon5:c.C527T:p.T176I,PROCA1:NM_001304953:exon5:c.C305T:p.T102I,PROCA1:NM_001366301:exon5:c.C605T:p.T202I,PROCA1:NM_001366303:exon5:c.C305T:p.T102I	.	401	1116	3	2	0	7	0.0031264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0025	0.00339457	0.0008	0.0084	0.0003	0.0001	0	6.661e-05	0	6.612e-05	0.000815	126	154602	rs140256102	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0007	3.844e-05	0.0003	0	0.0017	5.311e-05	0.0011	2.34e-05	0.0022	0.0022	0.0024	0.0020	0.0073	0.0020	0.0019	0.0066	0.0063	0.0073	0	0.0014	0	0	0	0	0.0001	0.0019	0	0.192	0.20988	T	0.039	0.51112	D	0.4	0.34852	B	0.121	0.32300	B	0.419074	0.12895	N	0.537726	1	0.08975	N	0.345	0.11182	N	3.5	0.05014	T	-1.88	0.43906	N	0.021	0.00825	-0.9367	0.43134	T	0.005	0.01688	T	10	0.0059212446	0.00133	T	.	.	.	0.016	0.02506	.	.	0.0611884634855	0.05136	0.027533530885249194	0.02703	0.0900235829722	0.10153	0.312320262194	0.12257	T	0.049927	0.28448	T	-0.68693	0.00044	T	-0.755778	0.03266	T	0.00171878560036455	0.00018	T	0.431557	0.11736	T	0.030074788	0.02610	0.029634906	0.01324	0.030074788	0.02609	0.029634906	0.01323	-4.342	0.29271	T	.	.	0.119	0.24363	B	.;.	.;.	-0.615820	0.01529	0.098	0.58392856001079052	0.05983	0.04215	0.09729	N	AEFDBCI	0.038497	0.05457	N	-1.09158100503117	0.06797	0.3139432	-1.1333811436506	0.07070	0.3425452	0.0768569011827701	0.15741	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	4.28	0.865	0.18211	-0.913000	0.04150	-0.417000	0.09309	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4158:0.0:0.5842:0.0	5.826	0.17810	152	0.94023	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003535	0.010309	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1121.83	69	chr17	28704048	.	G	A	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=251;ExcessHet=0;FS=4.866;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.006;SOR=1.329	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	0
chr17	28725539	28725539	T	A	exonic	TLCD1	.	nonsynonymous SNV	TLCD1:NM_001160407:exon2:c.A78T:p.L26F,TLCD1:NM_138463:exon2:c.A219T:p.L73F	.	425	1091	3	3	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	0.0025	0.00379393	0.0008	0.0081	0.0003	0	0	5.996e-05	0	6.057e-05	0.0008473	131	154602	rs116638249	0.0003	0.0003	0.0004	0.0003	0.0089	0.0003	0.0003	0.0081	0.0077	0.0089	0.0008	3.826e-05	0	0	0.0017	5.306e-05	0.0010	2.319e-05	0.0023	0.0023	0.0025	0.0021	0.0076	0.0021	0.0020	0.0069	0.0066	0.0076	0	0.0014	0	0	0	0	0.0001	0.0019	0	0.133	0.44694	T	0.0	0.92824	D	0.959	0.55135	D	0.789	0.57669	P	0.004109	0.34102	N	0.250233	0.999303	0.46608	D	2.045	0.56016	M	-1.9	0.84628	D	-1.85	0.43334	N	0.382	0.42345	-0.3500	0.73554	T	0.345	0.71027	T	10	0.009147465	0.00207	T	.	.	.	0.397	0.71163	0.407	0.44066	0.7069100462	0.70435	0.5059548018674515	0.50517	1.18640881155	0.80156	0.666369318962	0.62320	T	0.356226	0.72310	T	-0.331783	0.05977	T	-0.244934	0.50315	T	0.0553350889450735	0.06413	T	0.782222	0.41780	T	0.08538631	0.19803	0.124743305	0.30065	0.08538631	0.19803	0.124743305	0.30064	-5.767	0.44286	T	.	.	0.190	0.46619	B	.;.;.	.;.;.	2.343780	0.30040	18.31	0.99752460710402524	0.84382	0.39434	0.26212	N	ALL	0.090431	0.18324	N	-0.197106137034458	0.33254	1.884554	-0.224712057027014	0.30652	1.727765	0.999999999999983	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.0	1.92	0.24912	-0.033000	0.12196	1.078000	0.23865	-0.198000	0.09030	0.809000	0.29839	1.000000	0.68203	0.719000	0.34739	0.3268:0.5057:0.0:0.1675	4.543	0.11466	128	0.94857	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1647.83	150	chr17	28725539	.	T	A	1647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=335;ExcessHet=0;FS=0.659;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.86;SOR=0.798	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1472	5	0	1	0
chr17	29631107	29631107	T	G	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon15:c.A4006C:p.S1336R,SSH2:NM_001282129:exon16:c.A4087C:p.S1363R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0554642873796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.993	0.68779	D	0.84	0.65830	P	0.002930	0.35704	N	0.323657	0.999993	0.58761	D	2.615	0.76484	M	-0.44	0.69777	T	-1.6	0.38540	N	0.234	0.44379	-0.0972	0.80162	T	0.450	0.78479	T	10	0.29223174	0.46800	T	0.055464	0.66244	D	0.264	0.57741	0.217	0.13788	0.611543997595	0.60841	0.5910832469223872	0.59038	0.486683330562	0.47520	0.609823822975	0.54291	T	0.099158	0.40370	T	0.171906	0.71299	D	0.00915459	0.70927	D	0.894837260246277	0.54629	D	0.90061	0.65471	D	0.311439	0.53911	0.43907362	0.67271	0.311439	0.53911	0.43907362	0.67272	-3.646	0.18524	T	.	.	0.838	0.83008	P	.;.;.	.;.;.	4.236966	0.64207	24.7	0.99842120041822624	0.92229	0.96903	0.71570	D	AEFBI	0.448698	0.50382	N	0.659498098672269	0.76986	6.588342	0.669306725804661	0.80053	7.214729	0.999999980403931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.264000	0.42959	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.822	0.85699	83	0.96533	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	927.83	35	chr17	29631107	.	T	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.891;DP=265;ExcessHet=0;FS=1.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=2.04;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	5	0	1	0
chr17	30899330	30899330	T	A	exonic	TEFM	.	nonsynonymous SNV	TEFM:NM_024683:exon4:c.A922T:p.I308L	.	428	1091	1	2	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0088	0.00798722	0.0024	0.0282	0.0013	0	0	5.994e-05	0	0	0.0023092	357	154602	rs61743157	0.0008	0.0008	0.0010	0.0007	0.0300	0.0008	0.0008	0.0285	0.0279	0.0300	0.0015	0	0	0	0.0005	2.158e-05	0.0016	5.797e-05	0.0079	0.0079	0.0083	0.0074	0.0275	0.0075	0.0074	0.0262	0.0257	0.0275	0	0.0023	0	0	0	0	8.819e-05	0.0085	0	.	.	.	0.093	0.39799	T	0.0	0.02946	B	0.0	0.01387	B	0.001278	0.39594	N	0.248901	1	0.28140	N	0	0.06538	N	1.12	0.38718	T	.	.	.	0.098	0.07949	-1.0619	0.11288	T	0.018	0.07706	T	9	0.003047824	0.00050	T	.	.	.	.	.	0.372	0.38340	0.117506650769	0.11410	0.27253461094748216	0.27166	0.178367345857	0.20065	0.34490865469	0.17169	T	0.020615	0.16203	T	-0.672362	0.00053	T	-0.716265	0.04978	T	0.00830233260184563	0.00100	T	0.329367	0.06881	T	0.19347934	0.41059	0.13768111	0.32902	0.19347934	0.41059	0.13768111	0.32901	-2.15	0.03805	T	.	.	0.102	0.17869	B	.	.	2.233335	0.28512	17.82	0.94973799526230607	0.25904	0.30892	0.24198	N	AEFBI	0.115283	0.22673	N	-0.837627265800278	0.12357	0.6017985	-0.729443066963584	0.16230	0.8575447	0.0103761512017379	0.12014	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.06	1.57	0.22490	1.342000	0.33524	1.366000	0.25918	-0.226000	0.07819	0.052000	0.21487	0.002000	0.18203	0.855000	0.40485	0.0:0.6347:0.2301:0.1352	8.989	0.35169	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	973.83	33	chr17	30899330	.	T	A	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.397;DP=252;ExcessHet=0;FS=4.391;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.83;SOR=0.338	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	5	0	1	0
chr17	31226448	31226448	G	T	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon18:c.G2015T:p.G672V,NF1:NM_001042492:exon18:c.G2015T:p.G672V	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	152421	Juvenile_myelomonocytic_leukemia|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype|Neurofibromatosis,_type_1|not_provided	Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.0386746114985	7.7e-05	.	8.335e-06	0	0	0	0	0	0	6.081e-05	6.5e-06	1	154602	rs371817372	5.474e-06	5.472e-06	4.085e-06	6.877e-06	2.319e-05	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	3.598e-06	3.313e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.215	0.26306	T	0.0	0.20480	B	0.0	0.23121	B	0.000301	0.46274	D	0.150792	0.999999	0.58761	D	0.895	0.22405	L	3.17	0.09167	T	-1.82	0.42763	N	0.478	0.53006	-0.9982	0.30423	T	0.021	0.08963	T	10	0.1589208	0.29873	T	0.038675	0.58365	D	0.097	0.27909	.	.	0.470076495525	0.46634	0.4574961841152054	0.45667	0.885660446478	0.69981	0.563262581825	0.47727	T	0.579653	0.86215	D	-0.144384	0.29196	T	-0.34832	0.39396	T	0.398458781303527	0.28884	T	0.880312	0.59828	D	0.21009009	0.43295	0.22312436	0.47180	0.21009009	0.43295	0.22312436	0.47179	-3.732	0.20253	T	.	.	0.114	0.22680	B	.;.;.	.;.;.	3.379705	0.46740	22.3	0.98843469211719137	0.47169	0.88489	0.48440	D	AEFBI	0.276353	0.39111	N	-0.079477237025098	0.38294	2.240586	0.152310143813895	0.47263	2.959306	0.996291436468647	0.34649	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	3.035000	0.49449	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1358:0.8642:0.0	15.725	0.77510	673	0.60677	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1815.83	40	chr17	31226448	.	G	T	1815.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.423;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=-0.461;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1237:.	5	0	1	0
chr17	32494815	32494815	G	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_015194:exon22:c.C2965G:p.Q989E	.	422	1088	12	0	0	12	0.00548446	.	.	.	2334396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0108732974731	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200185034	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	5.975e-05	0.0002	0.0010	0	3.755e-05	0.0033	8.905e-05	0.0004	0.0002	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	7.216e-05	0	0	0.0026	0	0	0	0.0003	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.384713	0.04441	N	1.555200	0.999884	0.19853	N	-0.2	0.04182	N	1.33	0.35031	T	0.35	0.03761	N	0.068	0.04426	-0.8246	0.53645	T	0.046	0.19919	T	10	0.012643963	0.00271	T	0.010873	0.27894	T	0.165	0.42395	.	.	0.284150004643	0.28039	0.22388450696102383	0.22303	0.295359119718	0.31937	0.412352323532	0.26782	T	0.02994	0.21339	T	-0.55273	0.00281	T	-0.713662	0.05109	T	0.0204508278450645	0.00745	T	0.0687931	0.00503	T	0.019453501	0.00476	0.05317482	0.08908	0.019453501	0.00476	0.05317482	0.08907	-3.999	0.23789	T	.	.	0.083	0.09433	B	.;.	.;.	0.806839	0.11777	8.350	0.81660787995023365	0.13796	0.33110	0.24749	N	AEFDBHCI	0.162684	0.28888	N	-1.59957601846228	0.01266	0.05511708	-1.59729376006396	0.01672	0.07591856	0.999999999471569	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.07	-9.23	0.00572	1.011000	0.29513	0.285000	0.16810	-0.888000	0.02403	0.782000	0.29497	0.008000	0.19753	0.552000	0.30221	0.0814:0.1326:0.786:0.0	20.598	0.99453	939	0.14249	Class I myosin tail homology domain;Class I myosin tail homology 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	0.004032	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.000000	0.08333	949.83	34	chr17	32494815	.	G	C	949.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.022;DP=254;ExcessHet=0;FS=4.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.34;SOR=1.193	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,928	5	0	1	0
chr17	35411534	35411534	G	A	exonic	SLFN12	.	nonsynonymous SNV	SLFN12:NM_001289009:exon4:c.C1541T:p.S514L,SLFN12:NM_018042:exon4:c.C1541T:p.S514L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00359425	0.0015	0	0.0008	0.0012	0	1.5e-05	0.0022	0.0099	0.0013842	214	154602	rs572958618	0.0006	0.0006	0.0004	0.0008	0.0088	0.0006	0.0006	0.0083	0.0081	0	0.0004	0	0.0010	0	0.0003	3.597e-05	0.0011	0.0088	0.0004	0.0004	0.0003	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.407e-05	0	0	0	0.0015	0	0	5.882e-05	0.0005	0.0097	0.511	0.07473	T	0.701	0.05707	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	3.79	0.03809	T	-1.22	0.30964	N	0.045	0.01740	-0.9246	0.44915	T	0.006	0.01944	T	9	0.0046993196	0.00099	T	.	.	.	0.013	0.01715	.	.	0.0846915920261	0.08053	0.049395764189543084	0.04882	0.0460648221785	0.05005	0.253995835781	0.04201	T	0.011954	0.10589	T	-0.731487	0.00023	T	-0.815688	0.01541	T	0.00458965378371628	0.00049	T	0.529347	0.17530	T	0.017405529	0.00270	0.01990051	0.00109	0.017405529	0.00270	0.01990051	0.00109	-5.502	0.41886	T	.	.	0.103	0.18289	B	.;.;.	.;.;.	-1.475420	0.00310	0.005	0.10805919014671603	0.00146	0.00056	0.00418	N	AEFDGBI	0.015426	0.00293	N	-2.12066222899937	0.00115	0.004935108	-2.20273628309055	0.00110	0.004854735	0.435704205954176	0.20410	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	2.49	-4.98	0.02794	-2.433000	0.01098	-5.776000	0.01600	-2.113000	0.00388	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2057:0.2911:0.3556:0.1477	1.741	0.02775	680	0.59965	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1345.83	34	chr17	35411534	.	G	A	1345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.37;DP=278;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.28;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1212	5	0	1	0
chr17	35779074	35779074	C	T	exonic	MMP28	.	nonsynonymous SNV	MMP28:NM_001032278:exon3:c.G193A:p.A65T,MMP28:NM_024302:exon3:c.G193A:p.A65T,MMP28:NM_032950:exon3:c.G193A:p.A65T	.	429	1089	1	0	3	4	0.000458926	0.9825	0.822	.	2343847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0127794515546	0.0004	.	0.0005	0.0003	0.0006	0	0	0.0007	0	0	0.000401	62	154602	rs201925301	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0002	0	0.0003	0.0075	0	0	0.0009	0.0002	0.0005	2.32e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	9.047e-05	7.012e-05	4.811e-05	0	6.539e-05	0.0066	0	0	0	0.0002	0.0014	0	.	.	.	0.041	0.55759	D	0.049	0.28234	B	0.034	0.27757	B	0.000836	0.41547	D	0.270879	0.635362	0.32827	D	.	.	.	1.14	0.38397	T	.	.	.	0.152	0.17828	-1.0002	0.29860	T	0.074	0.29865	T	9	0.012360156	0.00266	T	0.012779	0.31649	T	.	.	.	.	0.669146814614	0.66635	0.40090114344479616	0.40005	.	.	0.338065803051	0.16147	T	0.047156	0.27640	T	-0.466354	0.00896	T	-0.591505	0.13536	T	0.0484751686453819	0.05228	T	.	.	.	0.08459613	0.19588	0.22892888	0.47949	0.08459613	0.19587	0.22892888	0.47948	-5.35	0.40435	T	.	.	0.073	0.16582	B	.;.;.;.	.;.;.;.	3.269566	0.44751	22.0	0.99746750460349343	0.83927	0.95193	0.63781	D	AEFDGBIJ	0.418471	0.48609	N	0.42533946966124	0.62819	4.504301	0.442762139895241	0.64252	4.67633	0.999999999999905	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	5.3	5.3	0.74745	3.451000	0.52727	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.0:1.0:0.0:0.0	17.970	0.89029	428	0.80967	Peptidoglycan binding-like;Peptidoglycan binding-like;Peptidoglycan binding-like|Peptidase, metallopeptidase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	880.83	35	chr17	35779074	.	C	T	880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.839;DP=233;ExcessHet=0;FS=8.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.287;SOR=0.153	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr17	35865347	35865347	G	A	exonic	HEATR9	.	nonsynonymous SNV	HEATR9:NM_001321395:exon3:c.C188T:p.P63L,HEATR9:NM_152781:exon3:c.C188T:p.P63L	.	453	1048	20	1	0	22	0.0103872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0078	0.00259585	0.0082	0.0028	0.0045	0.0001	0.0076	0.0095	0.0111	0.0137	0.0082793	1280	154602	rs141724302	0.0091	0.0091	0.0090	0.0091	0.0130	0.0089	0.0089	0.0123	0.0121	0.0015	0.0044	0.0245	5.038e-05	0.0066	0.0044	0.0094	0.0074	0.0130	0.0067	0.0067	0.0065	0.0069	0.0102	0.0063	0.0062	0.0088	0.0085	0.0020	0.0011	0.0049	0.0259	0.0002	0.0061	0.0136	0.0094	0.0071	0.0102	.	.	.	0.0	0.92824	D	0.326	0.62824	B	0.022	0.55167	B	0.026539	0.25904	N	0.279802	0.945607	0.26656	N	2.175	0.60977	M	0.84	0.57419	T	.	.	.	0.319	0.38746	-1.0174	0.24560	T	0.097	0.36393	T	10	0.003746748	0.00070	T	.	.	.	.	.	.	.	0.335164054921	0.33125	0.1183154124894414	0.11758	.	.	.	.	.	0.062881	0.32031	T	-0.453073	0.01083	T	-0.409958	0.32230	T	0.0304862646701763	0.02064	T	0.739426	0.35812	T	0.06350819	0.13378	0.13715151	0.32792	0.06350819	0.13378	0.13715151	0.32791	-2.93	0.09446	T	.	.	0.083	0.29670	B	.;.;.	.;.;.	1.511006	0.19414	14.25	0.91711669961026165	0.21006	0.14469	0.18419	N	AEFDGBCI	0.057825	0.10803	N	-0.372956293311932	0.26436	1.442789	-0.409491509021192	0.24719	1.355181	0.902468241525288	0.26127	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	2.18	0.26813	0.922000	0.28351	2.274000	0.31851	0.676000	0.76740	0.203000	0.24344	0.994000	0.32194	0.450000	0.27895	0.0:0.1912:0.6108:0.198	7.096	0.24490	449	0.79428	.;.;.	.	.	.	.	rs141724302	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.08333	1600.83	35	chr17	35865347	.	G	A	1600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.186;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	5	0	1	0
chr17	36166485	36166485	C	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.G1160A:p.R387K,TBC1D3B:NM_001001417:exon14:c.G1160A:p.R387K,TBC1D3H:NM_001123392:exon14:c.G1160A:p.R387K,TBC1D3L:NM_001291459:exon14:c.G1160A:p.R387K,TBC1D3G:NM_001291462:exon14:c.G1160A:p.R387K,TBC1D3I:NM_001291463:exon14:c.G1160A:p.R387K,TBC1D3D:NM_001291465:exon14:c.G1160A:p.R387K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00175383230582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-06	7.523e-06	3.34e-06	0	0.0005	0	0	.	.	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.14158	T	0.972	0.57405	D	0.542	0.48916	P	0.264020	0.15258	U	0.402618	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.068	0.04072	-1.0000	0.29917	T	0.023	0.09832	T	8	0.102874756	0.18881	T	0.001754	0.02960	T	.	.	0.213	0.13210	0.043077524339	0.03247	0.04549013356333532	0.04493	.	.	0.475326269865	0.35414	T	0.019771	0.15688	T	-0.323011	0.06654	T	-0.701759	0.05730	T	0.577296674251556	0.35514	D	0.668433	0.27736	T	0.14689998	0.33607	0.108163156	0.26050	0.14689998	0.33607	0.108163156	0.26049	-4.86	0.35282	T	.	.	0.138	0.30076	B	.	.	1.412600	0.18282	13.65	0.98088977472134453	0.38173	0.00061	0.00447	N	AEFI	0.029876	0.02899	N	-0.719623432021793	0.15470	0.7799423	-0.967677324980145	0.10516	0.5301303	1.66719675724052E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.316000	0.08112	-0.269000	0.10363	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	.	.	.	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	35.82	2	chr17	36166485	.	C	T	35.82	.	AC=2;AF=0.2;AN=10;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=20;QD=17.91;SOR=2.303	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	4	1	0	1
chr17	36254444	36254444	C	T	exonic	TBC1D3D;TBC1D3H;TBC1D3I	.	nonsynonymous SNV	TBC1D3H:NM_001123392:exon14:c.G1160A:p.R387K,TBC1D3I:NM_001291463:exon14:c.G1160A:p.R387K,TBC1D3D:NM_001291465:exon14:c.G1160A:p.R387K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.278481213434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.369e-06	1.418e-06	1.441e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	0.21011	T	.	.	.	.	.	.	0.264020	0.15258	U	0.402618	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	-1.0263	0.21658	T	0.037	0.16029	T	9	0.07304028	0.10985	T	0.278481	0.90144	D	.	.	0.269	0.21735	0.0401082797425	0.02173	0.061582151946123966	0.06098	.	.	0.518529236317	0.41418	T	0.032115	0.22343	T	-0.275647	0.11136	T	-0.633724	0.10133	T	0.319480001926422	0.25801	T	.	.	.	0.100368835	0.23698	0.06742789	0.13947	0.100368835	0.23698	0.06742789	0.13946	-4.859	0.35271	T	.	.	0.136	0.29505	B	.	.	1.524379	0.19565	14.33	0.98773808194695767	0.46017	0.00327	0.01711	N	AEFI	0.048869	0.08385	N	-0.944747626065944	0.09811	0.4660021	-1.11503046002747	0.07412	0.3604598	1.11536234223363E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	0.118	0.13972	0.341000	0.19652	-0.286000	0.10231	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	.	.	.	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	73.84	21	chr17	36254444	.	C	T	73.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=22.41;MQRankSum=0.876;QD=3.52;ReadPosRankSum=1.16;SOR=0.117	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,422	5	0	1	0
chr17	36500881	36500881	G	A	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_025109:exon19:c.C1726T:p.R576W,MYO19:NM_001163735:exon23:c.C2326T:p.R776W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0108196391755	0.0005	0.000998403	0.0004	0.0038	0.0002	0	0	8.326e-05	0	0.0001	0.0003299	51	154602	rs146710980	0.0001	0.0001	0.0002	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0004	0	0	0	0.0002	2.43e-05	0.0005	3.487e-05	0.0013	0.0013	0.0014	0.0013	0.0044	0.0012	0.0011	0.0039	0.0037	0.0044	0	0.0009	0	0	0	0.0034	5.883e-05	0.0005	0	.	.	.	0.19	0.43531	T	0.01	0.15535	B	0.002	0.06944	B	0.924448	0.08464	N	0.951745	0.697014	0.33383	D	1.47	0.36993	L	.	.	.	.	.	.	0.31	0.36148	-0.9054	0.47401	T	0.168	0.50762	T	10	0.005498737	0.00121	T	0.01082	0.27789	T	.	.	.	.	0.112648838833	0.10856	0.3929433446146566	0.39209	.	.	0.212629646063	0.00927	T	0.035888	0.23893	T	-0.500479	0.00568	T	-0.490864	0.23300	T	0.00881823167332322	0.00109	T	.	.	.	0.06902985	0.15089	0.0437825	0.05526	0.06902985	0.15088	0.0437825	0.05525	-6.203	0.55136	T	.	.	0.083	0.31100	B	.;.	.;.	0.990472	0.13686	10.22	0.79775956853013785	0.12895	0.38800	0.26070	N	AEFDGBHCI	0.253433	0.37293	N	-0.884582204407858	0.11208	0.5396753	-0.876564019247477	0.12649	0.6519556	0.997352338005546	0.35530	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	2.01	0.25568	0.549000	0.23037	0.451000	0.18522	-0.904000	0.02305	0.342000	0.25692	0.016000	0.20520	0.089000	0.17737	0.2463:0.0:0.6065:0.1472	4.821	0.12754	710	0.56735	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1082.83	35	chr17	36500881	.	G	A	1082.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.2;DP=231;ExcessHet=0;FS=14.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-1.367;SOR=0.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr17	36943072	36943072	G	T	exonic	LHX1	.	nonsynonymous SNV	LHX1:NM_005568:exon5:c.G1162T:p.A388S	.	424	1046	51	1	0	53	0.0247086	.	.	.	3220315	LHX1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.231	.	0.0050	0.00419329	0.0083	0.0012	0.0034	0	0.0009	0.0088	0.0102	0.0205	0.0072638	1123	154602	rs145694637	0.0077	0.0077	0.0072	0.0082	0.0196	0.0076	0.0075	0.0185	0.0182	0.0013	0.0037	0.0172	5.052e-05	0.0017	0.0196	0.0074	0.0085	0.0193	0.0059	0.0059	0.0060	0.0057	0.0151	0.0055	0.0054	0.0123	0.0113	0.0015	0.0253	0.0058	0.0207	0	0.0017	0.0136	0.0079	0.0076	0.0151	.	.	.	0.409	0.14588	T	0.001	0.07471	B	0.002	0.06944	B	0.005395	0.32840	N	0.126788	0.987268	0.40562	D	-0.345	0.03330	N	.	.	.	.	.	.	0.282	0.31925	-0.7051	0.60193	T	0.271	0.64245	T	10	0.0046339035	0.00097	T	.	.	.	.	.	.	.	0.326616659874	0.32268	0.29329692418712267	0.29242	.	.	0.500427007675	0.38888	T	0.16499	0.51066	T	-0.456119	0.01039	T	-0.413023	0.31877	T	0.00293281693561552	0.00031	T	.	.	.	0.037977275	0.04970	0.12609625	0.30374	0.037977275	0.04970	0.12609625	0.30373	-2.713	0.07413	T	.	.	0.067	0.02399	B	.	.	2.377238	0.30511	18.46	0.91691799860359935	0.20984	0.98331	0.81705	D	AEFDBHCI	0.646313	0.62190	D	-0.837251310872801	0.12366	0.6023255	-0.655536489895803	0.18077	0.9640994	0.999973125585128	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.73	2.64	0.30504	4.827000	0.62413	3.992000	0.40997	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1677:0.0:0.8323:0.0	10.425	0.43557	567	0.70732	.	.	.	.	.	.	Likely benign	0	0	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	0.019657	0.005051	0.021739	0.011696	0.000000	0.017241	0.030675	0.026515	0.08333	932.83	34	chr17	36943072	.	G	T	932.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.29;DP=250;ExcessHet=0;FS=13.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.067;SOR=1.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1435	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:37,46:83:99:618,0,529	0	0	6	0
chr17	37625924	37625924	G	C	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon8:c.C1107G:p.D369E,DDX52:NM_001291476:exon9:c.C783G:p.D261E	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00674468930645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471024863	8.209e-06	8.209e-06	6.806e-06	9.626e-06	0.0002	4.38e-06	3.46e-06	3.85e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.15842	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999957	0.52396	D	.	.	.	.	.	.	.	.	.	0.675	0.68255	-0.9427	0.42185	T	0.014	0.05705	T	10	0.42633137	0.57198	T	0.006745	0.17812	T	.	.	0.414	0.45216	0.401042353794	0.39719	0.47013895772493475	0.46932	.	.	0.59490275383	0.52185	T	.	.	.	0.164581	0.70624	D	0.0141193	0.71249	D	0.24976971745491	0.22862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.72258	P	.	.	3.069166	0.41247	21.3	0.98937906262715392	0.48883	0.98382	0.82208	D	AEFGBI	0.554769	0.56548	D	-0.191418076448726	0.33491	1.900634	-0.0379065778202122	0.38018	2.233966	0.0269926188882844	0.13747	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	2.67	0.30756	3.967000	0.56509	4.045000	0.41458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2037:0.0:0.7963:0.0	11.242	0.48205	47	0.97709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1212.83	42	chr17	37625924	.	G	C	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.213;DP=316;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.102;SOR=0.9	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1223,0,1697	5	0	1	0
chr17	37980022	37980022	G	A	exonic	TBC1D3D;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369501:exon11:c.C1013T:p.P338L,TBC1D3L:NM_001369499:exon12:c.C1262T:p.P421L,TBC1D3L:NM_001369500:exon12:c.C1079T:p.P360L,TBC1D3H:NM_001123392:exon13:c.C1079T:p.P360L,TBC1D3L:NM_001291459:exon13:c.C1079T:p.P360L,TBC1D3I:NM_001291463:exon13:c.C1079T:p.P360L,TBC1D3D:NM_001291465:exon13:c.C1079T:p.P360L,TBC1D3L:NM_001369503:exon13:c.C329T:p.P110L	.	.	.	.	.	.	.	.	0.1154	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0263983380715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.909e-06	5.663e-06	1.473e-06	1.037e-05	0.0006	2.54e-06	1.84e-06	0.0001	4.43e-05	0	0	0	0	0	0.0006	1.891e-06	1.807e-05	3.67e-05	1.741e-05	1.567e-05	0	3.561e-05	0.0005	2.89e-06	1.08e-06	8.643e-05	3.594e-05	0	0	0	0	0	0	0	0	0	0.0005	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000021	0.55875	U	0.071532	0.999877	0.81001	D	.	.	.	.	.	.	.	.	.	0.146	0.15749	-1.1082	0.03229	T	0.086	0.33494	T	9	0.17176199	0.31913	T	0.026398	0.49309	D	.	.	0.322	0.30226	0.337135696972	0.33324	0.0570103337567192	0.05642	.	.	0.517232656479	0.41236	T	0.224467	0.58891	T	-0.0461105	0.45034	T	-0.304011	0.44300	T	0.587821483612061	0.35920	D	0.822218	0.48193	T	0.13838226	0.32006	0.11591273	0.27982	0.13838226	0.32006	0.11591273	0.27982	-3.547	0.17096	T	.	.	0.102	0.18206	B	.;.	.;.	3.055247	0.41009	21.3	0.9406609643888878	0.24204	0.19015	0.20494	N	AEFI	0.203981	0.33045	N	-0.570257310090343	0.19853	1.042285	-0.834354698888542	0.13663	0.7100639	1.13579071790145E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.109	-0.218	0.12495	2.418000	0.44316	-4.902000	0.01934	0.235000	0.18186	0.931000	0.32310	0.000000	0.08366	0.108000	0.18652	.	.	.	158	0.93861	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1	839.75	35	chr17	37980022	.	G	A	839.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.49;DP=221;ExcessHet=0;FS=10.205;MLEAC=1;MLEAF=0.1;MQ=34.93;MQRankSum=-4.326;QD=9.13;ReadPosRankSum=0.403;SOR=1.405	GT:AD:DP:GQ:PL	0/1:49,43:92:99:849,0,962	4	0	1	1
chr17	38352537	38352537	C	T	exonic	SOCS7	.	nonsynonymous SNV	SOCS7:NM_014598:exon1:c.C485T:p.A162V	.	353	1149	18	2	0	22	0.00948276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0028	0.00179712	0.0106	0	0.0060	0	0	0.0272	0.0086	0.0043	0.0016817	260	154602	rs201577908	0.0070	0.0067	0.0069	0.0070	0.0157	0.0069	0.0068	0.0131	0.0121	0.0010	0.0035	0.0330	2.803e-05	0.0055	0.0157	0.0072	0.0076	0.0032	0.0055	0.0055	0.0058	0.0053	0.0076	0.0052	0.0051	0.0070	0.0068	0.0011	0.0044	0.0048	0.0349	0.0002	0.0046	0.0102	0.0076	0.0080	0.0037	.	.	.	0.353	0.17320	T	0.0	0.02946	B	0.0	0.01387	B	0.136634	0.18440	N	0.427989	0.990365	0.24180	N	-0.55	0.02420	N	.	.	.	.	.	.	0.194	0.26596	-1.0624	0.11166	T	0.032	0.13942	T	10	0.0034009516	0.00059	T	.	.	.	.	.	.	.	0.342376198884	0.33841	0.21693401798877182	0.21609	.	.	0.82646381855	0.86020	D	0.185673	0.53871	T	-0.461897	0.00957	T	-0.429011	0.30047	T	0.0266198450500308	0.01491	T	.	.	.	0.063396886	0.13344	0.120725855	0.29132	0.063396886	0.13344	0.120725855	0.29132	-5.472	0.41606	T	.	.	.	.	.	.;.	.;.	3.836651	0.55490	23.6	0.94707138394335744	0.25366	0.41057	0.26573	N	AEFDBCI	0.049406	0.08533	N	-0.619744559155887	0.18351	0.9520818	-0.501223864985424	0.22121	1.199909	0.999950952703517	0.48110	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.4	1.29	0.20717	0.284000	0.18624	2.964000	0.35768	0.571000	0.28931	0.974000	0.34632	1.000000	0.68203	0.996000	0.76049	0.0:0.4477:0.4269:0.1254	5.095	0.14062	172	0.93355	.;.	.	.	.	.	.	Likely benign	0	0	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	0.012987	0.013699	0.003788	0.034351	0.000000	0.000000	0.004762	0.000000	0.08333	677.83	36	chr17	38352537	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.809;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.16;SOR=0.601	GT:AD:DP:GQ:PL	0/1:24,33:57:99:688,0,524	5	0	1	0
chr17	38466942	38466942	G	A	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.G1259A:p.R420Q	.	412	1101	9	0	0	9	0.00407056	.	.	.	2391301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.011803118005	.	0.000399361	0.0005	0.0009	0	0	0	0.0012	0	0	0.00011	17	154602	rs199766741	0.0013	0.0013	0.0013	0.0013	0.0044	0.0013	0.0012	0.0030	0.0026	0.0001	0.0008	0.0012	5.597e-05	0.0003	0.0044	0.0015	0.0011	0.0001	0.0009	0.0009	0.0012	0.0007	0.0015	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0015	0.0014	0	0.0004	0	0.0014	0.0019	0	.	.	.	0.144	0.35840	T	0.58	0.90584	P	0.068	0.68407	B	0.000001	0.84330	D	0.000000	0.539769	0.31422	N	1.955	0.52871	M	.	.	.	.	.	.	0.411	0.45142	-0.8899	0.48943	T	0.100	0.37137	T	10	0.028384745	0.00971	T	0.011803	0.29782	T	.	.	.	.	0.451599300725	0.44785	0.692000541036402	0.69140	.	.	0.752668440342	0.74840	T	0.061732	0.31730	T	-0.427233	0.01541	T	-0.393252	0.34170	T	0.157365947961807	0.17674	T	.	.	.	0.21831653	0.44336	0.19620503	0.43338	0.21831653	0.44336	0.19620503	0.43337	-11.318	0.81373	D	.	.	0.454	0.62401	A	.;.	.;.	4.652954	0.74191	26.1	0.99768749097875431	0.85666	0.99128	0.91637	D	AEFDBI	0.846071	0.76296	D	0.185954620141275	0.50524	3.241638	0.229496394395113	0.51490	3.33116	0.999999991618231	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.65	3.68	0.41359	8.801000	0.91525	9.855000	0.82016	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0894:0.0:0.9106:0.0	11.684	0.50739	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001124	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	886.83	46	chr17	38466942	.	G	A	886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.815;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.02;SOR=0.754	GT:AD:DP:GQ:PL	0/1:40,37:77:99:897,0,922	5	0	1	0
chr17	39214269	39214269	T	C	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_001351360:exon8:c.A479G:p.K160R,STAC2:NM_198993:exon8:c.A905G:p.K302R	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00961022670831	0.0038	0.000998403	0.0027	0.0007	0.0018	0	0.0003	0.0044	0.0011	0.0004	0.0030853	477	154602	rs79968874	0.0052	0.0052	0.0054	0.0049	0.0063	0.0051	0.0050	0.0061	0.0061	0.0008	0.0020	0.0028	0	0.0005	0.0024	0.0063	0.0052	0.0005	0.0031	0.0031	0.0034	0.0028	0.0050	0.0029	0.0028	0.0046	0.0044	0.0016	0	0.0020	0.0029	0	0.0005	0.0034	0.0050	0.0052	0.0004	0.437	0.09346	T	0.221	0.25827	T	0.999	0.77913	D	0.996	0.84481	D	0.000002	0.62929	D	0.056171	0.996922	0.43508	D	0.035	0.08059	N	1.0	0.41392	T	-1.38	0.34198	N	0.305	0.34444	-1.0267	0.21527	T	0.086	0.33466	T	10	0.020850867	0.00488	T	0.00961	0.25130	T	0.195	0.47612	.	.	0.563873649602	0.56049	0.42853757149955524	0.42770	0.516753251321	0.49562	0.62697994709	0.56717	T	0.059677	0.31181	T	-0.347689	0.04874	T	-0.2689	0.47930	T	0.0175535971238021	0.00489	T	0.851715	0.53598	D	0.38021097	0.59332	0.24482717	0.49958	0.44682375	0.63841	0.2702353	0.52911	-6.596	0.51022	T	0.2631071747427153	0.35499	0.086	0.10787	B	.	.	4.927665	0.81218	27.5	0.998393990317611	0.91972	0.31796	0.24427	N	AEFDGBCIJ	0.522992	0.54678	D	0.272290393196863	0.54750	3.639754	0.327424170507449	0.57156	3.880547	0.999999880732311	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	3.666000	0.54277	4.211000	0.42532	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.720	0.62200	592	0.68746	SH3 domain|SH3 domain|SH3 domain|SH3 domain|Stac2, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1276.83	33	chr17	39214269	.	T	C	1276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.45;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.027;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	5	0	1	0
chr17	39462919	39462919	C	T	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon1:c.C848T:p.S283L,CDK12:NM_016507:exon1:c.C848T:p.S283L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0123623052284	.	.	8.245e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs759485356	3.42e-06	3.42e-06	0	6.875e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.205	0.30729	T	0.989	0.73220	D	0.791	0.68163	P	0.000646	0.42656	D	0.000000	0.567936	0.31202	N	1.1	0.28011	L	0.99	0.41750	T	-1.2	0.32590	N	0.109	0.09490	-0.9323	0.43799	T	0.133	0.44544	T	10	0.14121258	0.26835	T	0.012362	0.30863	T	0.077	0.22490	0.323	0.30387	0.264728329957	0.26087	0.29246038892761456	0.29159	0.296819178125	0.32070	0.548316121101	0.45620	T	0.020941	0.38417	T	-0.22175	0.17756	T	-0.459451	0.26660	T	0.445094406604767	0.30616	T	0.855414	0.62654	D	0.17235704	0.37922	0.17569329	0.40053	0.17235704	0.37921	0.17569329	0.40052	-6.148	0.47501	T	.	.	0.076	0.07554	B	.;.;.	.;.;.	4.474256	0.69744	25.4	0.99882987450524185	0.95892	0.44421	0.27315	N	AEFDBHCIJ	0.077569	0.15632	N	0.24858172236585	0.53569	3.525166	0.290216614173053	0.54966	3.660357	0.999999981328827	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.3	5.3	0.74745	1.851000	0.38978	5.970000	0.51981	0.599000	0.40250	0.900000	0.31427	0.982000	0.30508	0.999000	0.91618	0.0:0.915:0.0:0.085	12.765	0.56763	392	0.83172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1809.83	34	chr17	39462919	.	C	T	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.33;SOR=0.721	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1343	5	0	1	0
chr17	39684607	39684607	G	C	exonic	PGAP3	.	nonsynonymous SNV	PGAP3:NM_001291728:exon3:c.C422G:p.A141G,PGAP3:NM_001291730:exon3:c.C422G:p.A141G,PGAP3:NM_001291732:exon3:c.C422G:p.A141G,PGAP3:NM_001291733:exon3:c.C422G:p.A141G,PGAP3:NM_033419:exon3:c.C422G:p.A141G	Hyperphosphatasia with mental retardation syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	237370	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0060	0.00299521	0.0085	0.0015	0.0009	0	0.0347	0.0116	0.0069	0	0.0080853	1250	154602	rs35464006	0.0083	0.0083	0.0085	0.0080	0.0087	0.0081	0.0081	0.0086	0.0085	0.0014	0.0011	0.0048	0	0.0332	0	0.0087	0.0058	4.655e-05	0.0075	0.0075	0.0067	0.0084	0.0094	0.0072	0.0070	0.0088	0.0086	0.0013	0	0.0027	0.0075	0	0.0354	0	0.0094	0.0052	0	0.277	0.44358	T	0.49	0.18789	T	0.314	0.32870	B	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.565	0.39561	L	.	.	.	-2.21	0.49684	N	0.655	0.68777	-0.8880	0.49105	T	0.148	0.47451	T	9	0.0071570873	0.00163	T	.	.	.	0.143	0.38195	.	.	0.636784704464	0.63380	0.40331586679586834	0.40247	0.4632225215	0.45833	0.659490644932	0.61336	T	0.402397	0.80037	T	-0.256542	0.13307	T	-0.13025	0.60951	T	0.0221618474404852	0.00927	T	0.90161	0.72788	D	0.5174382	0.68112	0.47687602	0.69691	0.5308014	0.68877	0.4585404	0.68541	-8.069	0.61540	D	0.13025508845020842	0.13684	0.118	0.33504	B	.;.;.;.	.;.;.;.	4.345752	0.66707	25.0	0.99430352471829209	0.64227	0.99472	0.96450	D	AEFBI	0.927976	0.91147	D	0.149599571392518	0.48792	3.087262	0.292766874032707	0.55115	3.675027	0.999999928267346	0.74766	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.5	4.5	0.54382	8.514000	0.90373	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.474	0.83970	552	0.72024	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.08333	486.83	39	chr17	39684607	.	G	C	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.766;DP=209;ExcessHet=0;FS=1.402;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-1.36;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,19:31:99:497,0,334	5	0	1	0
chr17	39766491	39766491	C	T	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001284516:exon3:c.G88A:p.E30K,IKZF3:NM_001257413:exon4:c.G166A:p.E56K,IKZF3:NM_001257412:exon5:c.G283A:p.E95K,IKZF3:NM_001257414:exon5:c.G427A:p.E143K,IKZF3:NM_001257409:exon6:c.G610A:p.E204K,IKZF3:NM_001257411:exon6:c.G400A:p.E134K,IKZF3:NM_183231:exon6:c.G544A:p.E182K,IKZF3:NM_183232:exon6:c.G595A:p.E199K,IKZF3:NM_001257408:exon7:c.G727A:p.E243K,IKZF3:NM_001257410:exon7:c.G568A:p.E190K,IKZF3:NM_183228:exon7:c.G661A:p.E221K,IKZF3:NM_183229:exon7:c.G712A:p.E238K,IKZF3:NM_183230:exon7:c.G712A:p.E238K,IKZF3:NM_001284515:exon8:c.G88A:p.E30K,IKZF3:NM_012481:exon8:c.G829A:p.E277K,IKZF3:NM_001284514:exon9:c.G88A:p.E30K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0195247514546	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0001	0	0.0003	0.0001423	22	154602	rs147745873	0.0001	0.0001	8.763e-05	0.0001	0.0013	8.772e-05	8.256e-05	0.0006	0.0004	0	0.0001	0.0007	0	0	0.0013	6.048e-05	6.658e-05	0.0005	4.596e-05	4.593e-05	5.14e-05	4.028e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0.0009	0.0004	0.04	0.78490	D	0.14	0.51421	T	0.264	0.77913	B	0.109	0.86255	B	0.000418	0.44736	D	0.098132	0.999999	0.81001	D	2.48	0.72069	M	3.19	0.19726	T	-2.69	0.67477	D	0.509	0.59901	-0.8244	0.53657	T	0.179	0.52582	T	10	0.13741183	0.28139	T	0.019525	0.41916	T	0.265	0.57870	.	.	0.375737878683	0.37188	0.741259572624759	0.74071	1.44494330437	0.86042	0.625129461288	0.56455	T	.	.	.	-0.155945	0.27387	T	-0.119049	0.61881	T	0.182030462946067	0.19363	T	0.960904	0.94842	D	0.31267986	0.54017	0.27875775	0.53839	0.31267986	0.54017	0.27875775	0.53838	-13.047	0.90467	D	.	.	0.692	0.86235	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.450772	0.69188	25.3	0.99928076817133593	0.99222	0.98553	0.84020	D	AEFBCI	0.957398	0.97655	D	0.661166591356286	0.77093	6.608838	0.713465927006006	0.83400	8.011966	1.0	0.98316	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	7.654000	0.82708	4.075000	0.41695	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.085	0.97797	635	0.64580	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	581.83	39	chr17	39766491	.	C	T	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.015;DP=234;ExcessHet=0;FS=6.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.267;SOR=2.179	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr17	39974278	39974278	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon9:c.G757A:p.V253I	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00279396523765	0.0002	0.00119808	0.0014	0.0001	0.0002	0	0	0.0002	0.0015	0.0100	0.001022	158	154602	rs200722398	0.0006	0.0006	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	0	9.113e-05	0	5.043e-05	0	0.0024	0.0001	0.0007	0.0083	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0.0011	0	0	0	0	0	0.0002	0.0005	0.0068	0.452	0.08943	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.959492	0.08233	N	0.977537	1	0.08975	N	1.04	0.26193	L	1.99	0.21666	T	-0.11	0.08653	N	0.086	0.06322	-0.9674	0.37733	T	0.019	0.07939	T	10	0.0049937367	0.00107	T	0.002794	0.05810	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.09921580017986624	0.09852	0.0598782766333	0.06659	0.284895420074	0.08185	T	0.003831	0.03242	T	-0.732285	0.00023	T	-0.818538	0.01482	T	0.00673396509254671	0.00076	T	0.420158	0.11156	T	0.019484436	0.00480	0.021492226	0.00199	0.019484436	0.00479	0.021492226	0.00199	-3.811	0.20969	T	.	.	0.071	0.03925	B	.;.	.;.	0.804128	0.11749	8.324	0.19541576626061555	0.00664	0.06998	0.13024	N	AEFBI	0.034783	0.04367	N	-0.994334959763885	0.08724	0.4101539	-0.920376276963245	0.11614	0.5927452	0.935632730746567	0.27221	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.59	1.3	0.20778	0.990000	0.29242	1.034000	0.23503	0.676000	0.76740	0.513000	0.27056	0.000000	0.08366	0.012000	0.09680	0.2625:0.0:0.5816:0.1559	4.364	0.10651	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003535	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.011364	0.08333	698.83	35	chr17	39974278	.	G	A	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.604;DP=256;ExcessHet=0;FS=2.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.988;SOR=0.697	GT:AD:DP:GQ:PL	0/1:35,30:65:99:709,0,835	5	0	1	0
chr17	40771767	40771767	T	C	exonic	KRT26	.	nonsynonymous SNV	KRT26:NM_181539:exon1:c.A347G:p.K116R	.	213	1267	38	4	0	46	0.0178295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	0.0075	0.00658946	0.0057	0.0060	0.0095	0	0.0030	0.0071	0.0154	0.0008	0.0058537	905	154602	rs73985745	0.0064	0.0064	0.0065	0.0063	0.0480	0.0063	0.0062	0.0434	0.0416	0.0078	0.0133	0.0045	2.519e-05	0.0031	0.0480	0.0064	0.0093	0.0019	0.0073	0.0073	0.0074	0.0072	0.0152	0.0070	0.0068	0.0136	0.0130	0.0067	0	0.0152	0.0052	0	0.0034	0.0850	0.0070	0.0199	0.0012	0.738	0.03719	T	1.0	0.01155	T	0.021	0.18474	B	0.033	0.22329	B	0.085901	0.20617	N	0.457146	0.999999	0.08975	N	0.785	0.19527	N	-2.43	0.88689	D	-0.42	0.14193	N	0.029	0.00666	-0.8368	0.52858	T	0.175	0.51943	T	10	0.0031479	0.00053	T	.	.	.	0.189	0.46613	.	.	0.107399877778	0.10242	0.1611539058247978	0.16036	0.0485114265384	0.05301	0.221727177501	0.01412	T	0.08056	0.36391	T	-0.474816	0.00794	T	-0.444429	0.28313	T	0.0121325218385867	0.00193	T	0.812119	0.46368	T	0.106534496	0.25190	0.09714654	0.23110	0.106534496	0.25190	0.09714654	0.23110	-2.273	0.04410	T	.	.	0.061	0.01143	B	.	.	1.576479	0.20177	14.63	0.77690536024044898	0.11981	0.11077	0.16392	N	AEFBI	0.085033	0.17236	N	-0.82592548095977	0.12649	0.6179554	-0.69317081673292	0.17130	0.9095219	8.35221505880896E-4	0.07887	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.72	4.62	0.56946	0.837000	0.27212	1.043000	0.23573	0.665000	0.62972	0.017000	0.19353	0.001000	0.17328	0.895000	0.43227	0.0:0.0814:0.1525:0.7661	6.962	0.23781	63	0.97314	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs73985745	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.055388	0.136364	0.065217	0.046784	0.000000	0.060345	0.015244	0.000000	0.08333	2301.83	35	chr17	40771767	.	T	C	2301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.493;DP=358;ExcessHet=0;FS=1.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.62;SOR=0.572	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr17	40864903	40864903	C	T	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon3:c.G710A:p.R237Q	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0409719988233	.	.	1.647e-05	0	8.637e-05	0	0.0002	0	0	0	1.29e-05	2	154602	rs779768900	1.573e-05	1.573e-05	1.906e-05	1.238e-05	2.519e-05	1.048e-05	8.75e-06	7.31e-06	5.72e-06	0	2.236e-05	0	2.519e-05	1.872e-05	0	1.259e-05	9.935e-05	0	3.941e-05	3.94e-05	3.853e-05	4.034e-05	0.0002	1.715e-05	1.129e-05	5.287e-05	2.835e-05	0	0	0.0002	0	0	0.0002	0	1.47e-05	0	0	0.005	0.63226	D	0.067	0.44302	T	0.569	0.38523	P	0.099	0.30579	B	0.003809	0.34463	N	0.120677	0.999998	0.08975	N	1.43	0.35840	L	-2.54	0.89496	D	-3.04	0.62863	D	0.353	0.39457	-0.3461	0.73666	T	0.541	0.83084	D	10	0.23758203	0.40862	T	0.040972	0.59674	D	0.291	0.61040	0.58	0.70604	0.866756019994	0.86546	0.7168756012605785	0.71630	0.313697373287	0.33660	0.298485159874	0.10176	T	0.760073	0.93493	D	-0.118299	0.33402	T	-0.32484	0.42043	T	0.78573477268219	0.45412	D	0.814918	0.46941	T	0.32884648	0.55376	0.28650543	0.54658	0.32884648	0.55376	0.28650543	0.54657	-8.531	0.64634	D	0.3320612153189012	0.43005	0.121	0.40921	B	.;.;.	.;.;.	2.881535	0.38135	20.7	0.99899857695863103	0.97199	0.15506	0.18945	N	AEFDBI	0.132797	0.25223	N	-0.377745713296958	0.26264	1.432044	-0.433440577589994	0.24023	1.313193	0.180352400684773	0.17863	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.96	0.639	0.16919	-0.065000	0.11575	0.084000	0.14428	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.6335:0.0:0.3665	11.023	0.46944	99	0.95913	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1585.83	34	chr17	40864903	.	C	T	1585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=379;ExcessHet=0;FS=1.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.945;SOR=0.707	GT:AD:DP:GQ:PL	0/1:121,68:189:99:1596,0,2910	5	0	1	0
chr17	40993808	40993808	C	T	exonic	KRTAP3-3	.	nonsynonymous SNV	KRTAP3-3:NM_033185:exon1:c.G290A:p.G97D	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00280950989534	7.7e-05	0.000199681	0.0006	9.632e-05	0.0009	0	0	0.0004	0	0.0024	0.0005433	84	154602	rs368702159	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0027	0.0023	5.974e-05	0.0005	0.0008	0	0	0.0040	0.0002	0.0009	0.0024	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0003	0.0012	0	0	0	0.0004	0.0019	0.0002	0.747	0.03620	T	0.152	0.32249	T	0.085	0.24868	B	0.057	0.26280	B	0.252389	0.15482	N	0.630917	0.992893	0.23807	N	.	.	.	1.87	0.24085	T	-0.82	0.22508	N	0.183	0.19861	-1.0386	0.17740	T	0.053	0.22307	T	9	0.013206512	0.00281	T	0.00281	0.05869	T	0.041	0.10877	.	.	0.314716216878	0.31082	0.09344851848870168	0.09276	0.34989876258	0.36836	0.30668258667	0.11406	T	0.005354	0.04800	T	-0.571177	0.00218	T	-0.599709	0.12835	T	0.0120510934403371	0.00191	T	.	.	.	0.048656538	0.08516	0.07998882	0.18057	0.048656538	0.08515	0.07998882	0.18056	-4.65	0.32794	T	.	.	0.085	0.10111	B	.	.	0.861408	0.12337	8.878	0.17646016997763231	0.00523	0.18353	0.20225	N	AEFGBI	0.072297	0.14424	N	-0.353712650571673	0.27136	1.48641	-0.290783467502863	0.28401	1.583308	0.00111137648523761	0.08239	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.79	4.8	0.61157	0.468000	0.21763	0.043000	0.13895	0.581000	0.30040	0.353000	0.25784	0.000000	0.08366	0.060000	0.15972	0.0:0.8968:0.0:0.1032	9.510	0.38234	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.08333	1524.83	36	chr17	40993808	.	C	T	1524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.423;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.83;MQRankSum=1.41;QD=11.91;ReadPosRankSum=1.42;SOR=0.704	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1535,0,1573	5	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1617.41	219	chr17	41041286	.	G	*	1617.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=573;ExcessHet=0;FS=2.341;MLEAC=2;MLEAF=0.167;MQ=58.87;MQRankSum=-2.599;QD=3.81;ReadPosRankSum=0.255;SOR=0.981	GT:AD:DP:GQ:PL	0/1:81,92:206:99:2594,0,3546	4	0	2	0
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1576.02	218	chr17	41041341	.	G	*	1576.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.404;DP=560;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-2.528;QD=3.82;ReadPosRankSum=-2.339;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,89:195:99:0|1:41041341_G_*:2661,0,2994:41041341	4	0	2	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1324.02	212	chr17	41041366	.	A	*	1324.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.226;DP=552;ExcessHet=0;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=58.84;MQRankSum=-2.611;QD=3.25;ReadPosRankSum=-2.651;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,89:195:99:0|1:41041341_G_*:2664,0,2989:41041341	4	0	2	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	271.02	188	chr17	41041386	.	A	*	271.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.2;DP=507;ExcessHet=0;FS=3.079;MLEAC=2;MLEAF=0.167;MQ=58.73;MQRankSum=-2.308;QD=0.75;ReadPosRankSum=-2.295;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,90:174:99:0|1:41041341_G_*:2696,0,2529:41041341	4	0	2	0
chr17	41097654	41097654	C	G	exonic	KRTAP4-8	.	nonsynonymous SNV	KRTAP4-8:NM_031960:exon1:c.G431C:p.C144S	.	411	1108	3	0	0	3	0.00135196	.	.	.	2699129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00168855006843	.	.	0.0007	0.0003	0	0	0.0004	0.0011	0	9.088e-05	3.84e-05	1	26028	rs755100550	0.0006	0.0006	0.0007	0.0006	0.0020	0.0006	0.0006	0.0011	0.0008	6.155e-05	0.0002	3.894e-05	0	0.0003	0.0020	0.0008	0.0005	1.187e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	2.445e-05	0	0.0001	0	0	0.0002	0	0.0005	0.0010	0	0.054	0.38633	T	0.033	0.54541	D	0.998	0.73220	D	0.966	0.71341	D	0.000125	0.49741	U	0.000000	0.62067	0.30782	N	3.47	0.92451	M	4.34	0.02341	T	-8.29	0.96961	D	0.236	0.40063	-1.1018	0.03880	T	0.035	0.14943	T	10	0.14781702	0.28003	T	0.001689	0.02805	T	0.140	0.37593	0.63	0.76588	0.151104730317	0.14643	0.3129882640765517	0.31211	0.111146524575	0.12538	0.249220967293	0.03686	T	0.085565	0.37529	T	-0.441681	0.01264	T	-0.499956	0.22351	T	0.364176571369171	0.27572	T	0.523548	0.40135	T	0.44810757	0.63921	0.39614582	0.64264	0.44810757	0.63922	0.39614582	0.64264	-7.849	0.60036	D	.	.	0.192	0.44240	B	.;.	.;.	3.297926	0.45254	22.1	0.65935547724222021	0.07914	0.91106	0.52872	D	AEFBI	0.346558	0.44133	N	0.329765093095938	0.57681	3.936514	0.138488689843416	0.46534	2.897936	0.0073815990307401	0.11453	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.73	3.73	0.41982	0.085000	0.14759	1.104000	0.24096	0.568000	0.28809	0.004000	0.16614	0.677000	0.26099	0.492000	0.28837	0.0:0.8775:0.0:0.1225	7.554	0.26980	312	0.87382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002193	0.000000	0.004132	0.000000	0.000000	0.000000	0.003226	0.000000	0.08333	1778.83	66	chr17	41097654	.	C	G	1778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.38;DP=396;ExcessHet=0;FS=1.955;MLEAC=1;MLEAF=0.083;MQ=40.91;MQRankSum=-1.303;QD=19.34;ReadPosRankSum=1.67;SOR=0.444	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1789,0,1221	5	0	1	0
chr17	41105995	41105995	T	G	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.T607G:p.L203V,LOC100996750:NM_001365252:exon3:c.T592G:p.L198V	.	397	1113	12	0	0	12	0.00536193	.	.	.	2842410	EBV-positive_nodal_T-_and_NK-cell_lymphoma	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00317349395636	.	.	0.0001	0.0009	0	0	0	7.329e-05	0	0	.	.	.	rs760182369	0.0002	0.0032	0.0002	0.0003	0.0025	0.0002	0.0002	0.0021	0.0019	0.0004	0.0025	0.0007	0.0013	0.0002	0.0004	7.419e-05	0.0003	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.567	0.08900	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999996	0.08975	N	0.09	0.08384	N	6.51	0.00528	T	0.1	0.05810	N	0.011	0.04426	-1.0026	0.29168	T	0.001	0.00255	T	9	0.036321104	0.01924	T	0.003173	0.06936	T	0.017	0.02790	.	.	0.137902524267	0.13322	0.021938056620048867	0.02145	0.179632612273	0.20209	0.228239178658	0.01840	T	0.002186	0.01585	T	-0.558072	0.00261	T	-0.73486	0.04110	T	0.0296144627414207	0.01930	T	0.0146985	0.00081	T	0.037802603	0.04916	0.056161508	0.09985	0.037802603	0.04916	0.056161508	0.09985	-1.686	0.02193	T	.	.	0.067	0.03515	B	.;.	.;.	-0.646073	0.01451	0.088	0.59983368381782498	0.06354	0.01717	0.05443	N	AEFBI	0.023656	0.01350	N	-1.29860675217479	0.03693	0.1654153	-1.28154661051394	0.04679	0.2213134	1.76130031738835E-4	0.05786	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	2.64	-2.71	0.05633	-1.260000	0.02967	-11.436000	0.00605	-0.609000	0.04591	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.4686:0.0:0.3553:0.1761	3.722	0.07988	284	0.88763	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	253.83	248	chr17	41105995	.	T	G	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.589;DP=445;ExcessHet=0;FS=29.457;MLEAC=1;MLEAF=0.083;MQ=56.24;MQRankSum=-9.27;QD=1.02;ReadPosRankSum=-5.543;SOR=2.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,99,1485:.	5	0	1	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018499	0.015152	0.013587	0.008197	0.050000	0.017241	0.030488	0.015152	0.08333	1901.83	34	chr17	41350572	.	G	A	1901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=333;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.588;SOR=0.7	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1912,0,1480	5	0	1	0
chr17	41379065	41379065	A	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.T1114A:p.C372S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0053	0.00479233	0.0014	0.0143	0.0010	0	0	0.0001	0.0022	0.0001	0.0013648	211	154602	rs61740669	0.0005	0.0006	0.0006	0.0005	0.0168	0.0005	0.0005	0.0156	0.0152	0.0168	0.0012	0	7.557e-05	0	0.0017	8.724e-05	0.0011	9.275e-05	0.0050	0.0050	0.0054	0.0045	0.0166	0.0047	0.0046	0.0156	0.0152	0.0166	0	0.0028	0	0	0	0.0068	0.0002	0.0033	0.0002	0.016	0.51853	D	0.514	0.10678	T	0.005	0.12996	B	0.023	0.19966	B	0.785802	0.09435	N	0.906875	1	0.08975	N	0.685	0.16464	N	-2.27	0.87433	D	-8.89	0.97914	D	0.1	0.08227	-1.0543	0.13225	T	0.022	0.09284	T	9	0.004361868	0.00089	T	.	.	.	0.032	0.07718	0.458	0.52427	0.0884992946249	0.08302	0.09294836828802878	0.09226	0.0458086973962	0.04975	0.359180390835	0.19266	T	0.393735	0.75306	T	-0.519214	0.00445	T	-0.506267	0.21699	T	0.0326622246871618	0.02415	T	0.0337966	0.00223	T	0.10558425	0.24963	0.09465126	0.22414	0.10558425	0.24963	0.09465126	0.22414	-5.341	0.40347	T	.	.	0.068	0.02861	B	.	.	-1.629993	0.00226	0.003	0.48299187062238635	0.04019	0.05918	0.11871	N	AEFDGBI	0.163281	0.28955	N	-1.99505642046439	0.00217	0.009294421	-2.0757036593676	0.00210	0.009269279	0.999272507259044	0.38974	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-10.1	0.00330	-1.939000	0.01636	-20.000000	0.00162	-1.306000	0.01239	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.4904:0.2688:0.069:0.1719	3.585	0.07518	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	0.002569	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.000000	0.08333	1286.83	33	chr17	41379065	.	A	T	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.878;DP=383;ExcessHet=0;FS=0.643;MLEAC=1;MLEAF=0.083;MQ=58.42;MQRankSum=-9.865;QD=6.34;ReadPosRankSum=-1.914;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	5	0	1	0
chr17	41379105	41379105	G	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1074A:p.S358R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00819434024655	.	0.000199681	8.237e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs200168141	8.893e-06	2.873e-05	6.806e-06	1.1e-05	0.0007	4.96e-06	3.82e-06	0.0002	0.0001	0	6.71e-05	0	0	0	0.0007	4.497e-06	1.656e-05	0	2.626e-05	7.874e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	5.279e-05	2.833e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.692	0.04277	T	0.364	0.16766	T	0.001	0.07471	B	0.008	0.13708	B	0.084399	0.20699	N	0.518682	0.999985	0.18198	N	0.965	0.23975	L	-2.42	0.88611	D	-1.6	0.38540	N	0.137	0.13484	-1.0474	0.15130	T	0.035	0.15030	T	9	0.049883753	0.04641	T	0.008194	0.21700	T	0.013	0.01715	0.381	0.39807	0.259761712551	0.25597	0.12595782708830233	0.12521	0.0437824951073	0.04714	0.330992251635	0.15085	T	0.229538	0.59538	T	-0.157641	0.27124	T	-0.464217	0.26141	T	0.0221948705122513	0.00931	T	0.0763924	0.00561	T	0.08094296	0.18573	0.076308526	0.16888	0.08094296	0.18573	0.076308526	0.16887	-8.624	0.65248	D	.	.	0.398	0.59454	A	.	.	0.251793	0.06311	2.769	0.81121332009785729	0.13529	0.26919	0.23130	N	AEFDGBI	0.131567	0.25055	N	-1.17309250043056	0.05410	0.2465632	-1.1413586850399	0.06924	0.3349708	0.00915357893409859	0.11806	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.672	0.17103	-1.124000	0.03372	-1.003000	0.06640	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.148:0.132:0.4776:0.2425	2.594	0.04554	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.08333	122.83	33	chr17	41379105	.	G	T	122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.279;DP=324;ExcessHet=0;FS=14.121;MLEAC=1;MLEAF=0.083;MQ=58.17;MQRankSum=-11.97;QD=0.85;ReadPosRankSum=-3.607;SOR=2.712	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	5	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	33	chr17	41382308	.	A	G	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.646;DP=403;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.83;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21:153:67:0|1:41382308_A_G:67,0,5140:41382308	4	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	214.06	33	chr17	41382311	.	C	G	214.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.958;DP=400;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.74;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21:153:67:0|1:41382308_A_G:67,0,5140:41382308	4	0	2	0
chr17	41489411	41489411	G	-	exonic	KRT36	.	frameshift deletion	KRT36:NM_003771:exon1:c.454delC:p.Q152Rfs*5	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0012	9.615e-05	0.0003	0	0.0021	0.0018	0	0.0003	0.0001921	5	26028	rs543374682	0.0014	0.0014	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	0.0004	3.828e-05	0	0.0026	0.0003	0.0016	0.0014	0.0004	0.0012	0.0012	0.0012	0.0013	0.0022	0.0011	0.0010	0.0019	0.0018	7.214e-05	0	0.0004	0	0	0.0028	0	0.0022	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2327.79	34	chr17	41489410	.	TG	T	2327.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=336;ExcessHet=0;FS=2.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=2.1;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr17	41523789	41523789	C	T	exonic	KRT19	.	nonsynonymous SNV	KRT19:NM_002276:exon6:c.G1157A:p.G386E	.	49	1472	1	0	0	1	0.000339559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.561960874467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.985	0.61118	D	0.911	0.64720	D	0.005667	0.32605	N	0.140362	0.999988	0.54805	D	3.19	0.88972	M	-4.88	0.98296	D	-6.34	0.90937	D	0.332	0.37301	1.090	0.99226	D	0.966	0.98927	D	10	0.8320266	0.82364	D	0.561961	0.96005	D	0.845	0.95175	0.709	0.84509	0.97686281105	0.97661	0.6406596733130545	0.64000	1.51082159887	0.87234	.	.	.	0.951798	0.99311	D	0.26061	0.79585	D	0.136572	0.79321	D	0.990442931652069	0.80665	D	0.959904	0.84889	D	0.7822758	0.82793	0.7600127	0.85820	0.7822758	0.82795	0.7600127	0.85821	-9.457	0.70591	D	.	.	0.359	0.57136	A	.	.	3.324096	0.45731	22.2	0.99742552199865309	0.83629	0.91682	0.54040	D	AEFBHCI	0.788737	0.71814	D	0.568564110072225	0.71218	5.617757	0.463114913866148	0.65562	4.839656	0.999999999505266	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.631631	0.49550	0	.	.	5.03	4.05	0.46415	2.066000	0.41078	2.216000	0.31409	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.0:0.6867:0.3133:0.0	12.896	0.57491	408	0.82256	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1776.83	37	chr17	41523789	.	C	T	1776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=331;ExcessHet=0;FS=3.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.801;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	5	0	1	0
chr17	41621625	41621625	G	A	exonic	KRT17	.	nonsynonymous SNV	KRT17:NM_000422:exon4:c.C802T:p.R268C	Pachyonychia congenita 2, Autosomal dominant;Steatocystoma multiplex, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.260381732634	.	0.000199681	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs560576342	1.439e-05	1.573e-05	1.091e-05	1.79e-05	0.0002	9.24e-06	7.85e-06	9.25e-06	5.03e-06	0	4.473e-05	0	0	0	0.0002	1.169e-05	3.321e-05	3.482e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.011	0.55530	D	0.0	0.92824	D	0.726	0.42471	P	0.344	0.42549	B	0.000202	0.47681	D	0.000000	0.999797	0.81001	D	3.285	0.90273	M	-2.63	0.90083	D	-7.32	0.94537	D	0.755	0.77132	0.947	0.96346	D	0.820	0.93944	D	10	0.84648466	0.83815	D	0.260382	0.89483	D	0.729	0.90501	.	.	0.953522039099	0.95302	0.726774565108666	0.72621	0.508316111948	0.48989	0.634018063545	0.57714	T	0.948708	0.99246	D	0.0823191	0.62312	D	0.0563161	0.74000	D	0.73609560783668	0.42529	D	0.914708	0.73422	D	0.7097684	0.78595	0.7395276	0.84604	0.7097684	0.78596	0.7395276	0.84605	-10.074	0.74354	D	0.3605044837147235	0.45699	0.435	0.61993	A	.;.;.;.	.;.;.;.	5.640210	0.92738	33	0.99918117442906951	0.98586	0.94433	0.61150	D	AEFBCI	0.813809	0.73619	D	0.537077502408743	0.69297	5.33722	0.47183765035194	0.66132	4.912284	0.999999993907248	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	4.444000	0.59743	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.279	0.82485	353	0.85335	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000575	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	528.83	20	chr17	41621625	.	G	A	528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.77;DP=170;ExcessHet=0;FS=6.369;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.602;SOR=0.2	GT:AD:DP:GQ:PL	0/1:23,22:45:99:539,0,513	5	0	1	0
chr17	41811518	41811518	C	T	exonic	P3H4	.	nonsynonymous SNV	P3H4:NM_006455:exon1:c.G398A:p.R133Q	.	89	1423	10	0	0	10	0.0035014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.900194473924	0.0041	0.00219649	0.0053	0.0019	0.0030	0	0.0035	0.0073	0.0041	0.0045	0.0042367	655	154602	rs200433757	0.0067	0.0066	0.0066	0.0067	0.0078	0.0065	0.0065	0.0076	0.0076	0.0015	0.0033	0.0013	0	0.0026	0.0023	0.0078	0.0047	0.0049	0.0050	0.0050	0.0049	0.0051	0.0081	0.0047	0.0046	0.0075	0.0073	0.0015	0.0363	0.0028	0.0017	0	0.0037	0	0.0081	0.0057	0.0037	0.099	0.30656	T	0.023	0.57104	D	0.991	0.64070	D	0.586	0.50343	P	0.000003	0.62929	D	0.056832	0.947752	0.26590	N	1.545	0.39105	L	-0.7	0.72785	T	-1.66	0.39692	N	0.218	0.24385	-0.7862	0.55950	T	0.234	0.60124	T	10	0.011135012	0.00245	T	0.900194	0.99248	D	0.277	0.59375	.	.	0.0762999501168	0.06990	0.39654065555026535	0.39569	0.855501403435	0.68735	0.796865165234	0.81485	T	0.038968	0.25026	T	-0.416183	0.01810	T	-0.365326	0.37434	T	0.0187566151484882	0.00587	T	0.840916	0.51656	T	0.09635647	0.22694	0.14154294	0.33703	0.09635647	0.22694	0.14154294	0.33702	-5.222	0.39165	T	.	.	0.113	0.22969	B	.;.	.;.	4.002391	0.58988	24.0	0.99821739916919339	0.90414	0.21155	0.21301	N	ALL	0.212340	0.33804	N	-0.233174938384371	0.31779	1.785467	-0.320889949082285	0.27424	1.521665	0.999999999235026	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.37	3.41	0.38145	1.537000	0.35689	0.878000	0.22371	-0.189000	0.09497	0.002000	0.15269	0.351000	0.24472	0.643000	0.32503	0.0:0.7428:0.164:0.0932	7.848	0.28602	554	0.71839	.;.	CNP	Breast_Mammary_Tissue	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.000000	0.000000	0.005882	0.000000	0.000000	0.003086	0.000000	0.08333	337.83	37	chr17	41811518	.	C	T	337.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.68;DP=168;ExcessHet=0;FS=3.981;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-0.109;SOR=0.215	GT:AD:DP:GQ:PL	0/1:8,13:21:99:348,0,247	5	0	1	0
chr17	42192285	42192287	CAC	-	exonic	GHDC	.	nonframeshift deletion	GHDC:NM_001142623:exon5:c.843_845del:p.W281del,GHDC:NM_032484:exon5:c.843_845del:p.W281del	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00199681	0.0019	0.0002	0.0009	0	0	0.0011	0.0026	0.0124	0.0002305	6	26028	rs368300587	0.0012	0.0012	0.0009	0.0015	0.0105	0.0011	0.0011	0.0084	0.0077	0.0001	0.0009	0.0022	0	1.945e-05	0.0105	0.0007	0.0016	0.0084	0.0009	0.0009	0.0009	0.0009	0.0085	0.0007	0.0007	0.0064	0.0057	0.0001	0	0.0006	0.0029	0	0	0.0034	0.0009	0.0019	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013171	0.000000	0.023161	0.005882	0.050000	0.034483	0.003067	0.000000	0.1667	2404.01	56	chr17	42192284	.	GCAC	G	2404.01	.	AC=2;AF=0.167;AN=12;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.06;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1148:.	5	1	0	0
chr17	42554533	42554533	G	A	exonic	HSD17B1	.	nonsynonymous SNV	HSD17B1:NM_000413:exon5:c.G668A:p.S223N,HSD17B1:NM_001330219:exon5:c.G671A:p.S224N	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0262788258756	0.0018	0.00119808	0.0019	0.0004	0.0026	0	0	0.0023	0.0023	0.0023	0.0018564	287	154602	rs146195480	0.0020	0.0020	0.0020	0.0020	0.0025	0.0020	0.0019	0.0022	0.0020	0.0003	0.0025	0.0181	0	0	0.0005	0.0018	0.0029	0.0019	0.0016	0.0016	0.0015	0.0016	0.0031	0.0014	0.0013	0.0024	0.0021	0.0003	0.0022	0.0031	0.0144	0	0	0	0.0017	0.0028	0.0014	.	.	.	0.308	0.19845	T	0.001	0.07471	B	0.001	0.04355	B	0.034470	0.24766	N	0.468226	1	0.08975	N	1.47	0.36993	L	-3.15	0.92938	D	.	.	.	0.07	0.04307	-1.0667	0.10154	T	0.022	0.09147	T	9	0.003371209	0.00059	T	0.026279	0.49198	D	0.067	0.19503	.	.	0.696815536761	0.69419	0.2942490535099158	0.29337	0.278946880177	0.30372	0.330719292164	0.15044	T	0.248342	0.61813	T	-0.4029	0.02216	T	-0.34751	0.39490	T	0.010457578991876	0.00144	T	0.274073	0.04660	T	0.17813762	0.38816	0.1267093	0.30513	0.17813762	0.38816	0.1267093	0.30513	-5.969	0.46019	T	.	.	0.203	0.48365	B	.;.	.;.	-0.070497	0.03821	0.815	0.82126623377764441	0.14032	0.07158	0.13183	N	ALL	0.052726	0.09439	N	-1.63622708282546	0.01094	0.0475011	-1.75995056314822	0.00896	0.04007579	0.999999999998603	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.02	-8.04	0.00980	-0.836000	0.04489	0.412000	0.18122	-0.483000	0.05064	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.2555:0.2284:0.1701:0.346	0.191	0.00125	199	0.92292	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1676.83	33	chr17	42554533	.	G	A	1676.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.434;DP=283;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.238;SOR=0.793	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1687,0,1141	5	0	1	0
chr17	42688996	42688996	G	A	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon10:c.G1577A:p.R526Q	Lethal congenital contracture syndrome 7, Autosomal recessive	430	1087	5	0	0	5	0.00229463	.	.	.	740766	not_provided|CNTNAP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0159927000698	0.0012	0.000399361	0.0016	0.0007	0.0009	0.0015	0	0.0017	0.0012	0.0031	0.0014489	224	154602	rs137982413	0.0017	0.0017	0.0016	0.0018	0.0027	0.0016	0.0016	0.0024	0.0023	0.0004	0.0008	0.0017	0.0011	9.368e-05	0.0003	0.0018	0.0015	0.0027	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0017	0.0016	0.0007	0	0.0006	0.0012	0.0010	0.0004	0	0.0019	0	0.0021	0.457	0.08813	T	0.314	0.19480	T	0.002	0.09854	B	0.002	0.06944	B	0.009847	0.30173	N	0.230563	0.895557	0.27801	N	0.345	0.11182	N	-1.01	0.76168	T	-0.21	0.10308	N	0.197	0.21710	-0.9623	0.38742	T	0.181	0.52874	T	10	0.01132682	0.00248	T	0.015993	0.37021	T	0.183	0.45592	.	.	0.603876675548	0.60071	0.5201364610363866	0.51936	0.454858999474	0.45167	0.381955206394	0.22533	T	0.05685	0.30404	T	-0.359094	0.04181	T	-0.293206	0.45439	T	0.00830203906857977	0.00100	T	0.80082	0.44648	T	0.028492136	0.02194	0.037494153	0.03413	0.028492136	0.02194	0.037494153	0.03413	-4.854	0.35214	T	0.28241796576326245	0.37792	0.095	0.14706	B	.	.	2.570512	0.33311	19.30	0.99567343019183407	0.72136	0.96119	0.67620	D	AEFBI	0.556634	0.56659	D	-0.379320972913189	0.26207	1.42853	-0.174809806435855	0.32467	1.847344	0.984042134943613	0.30654	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.73	3.76	0.42368	2.062000	0.41039	5.194000	0.47909	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.998000	0.85391	0.0863:0.0:0.7474:0.1663	7.377	0.26007	268	0.89479	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	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1656.83	34	chr17	42688996	.	G	A	1656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=293;ExcessHet=0;FS=3.462;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.974;SOR=0.44	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1667,0,1177	5	0	1	0
chr17	42845116	42845116	C	T	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.C490T:p.R164C,AOC2:NM_009590:exon1:c.C490T:p.R164C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0168372654657	.	.	8.482e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs939933467	1.3e-05	1.3e-05	1.498e-05	1.1e-05	0.0002	8.32e-06	6.7e-06	1.583e-05	9.3e-06	0	2.236e-05	0	2.519e-05	0	0.0002	8.093e-06	4.968e-05	4.637e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.101271	0.19846	N	0.519881	0.999979	0.53665	D	2.595	0.75868	M	2.21	0.18414	T	-3.81	0.71882	D	0.443	0.48134	-1.0357	0.18637	T	0.114	0.40467	T	10	0.57538486	0.65550	D	0.016837	0.38283	T	0.300	0.62068	0.639	0.77579	0.516938183928	0.51336	0.8313122090989467	0.83090	0.216964245615	0.24212	0.395880162716	0.24495	T	0.405664	0.76178	T	-0.212776	0.18989	T	-0.374286	0.36388	T	0.930193722248077	0.59474	D	0.932607	0.75346	D	0.2496131	0.47957	0.19939345	0.43819	0.2496131	0.47957	0.19939345	0.43818	-8.598	0.65076	D	.	.	0.106	0.37083	B	.;.	.;.	3.728091	0.53317	23.3	0.99891215883796203	0.96513	0.69425	0.34182	D	AEFDBHCI	0.250502	0.37054	N	0.271045770976983	0.54687	3.633696	0.153396055966815	0.47321	2.964194	0.985426399972839	0.30885	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.6	4.63	0.57175	0.946000	0.28667	1.670000	0.27950	0.599000	0.40250	0.989000	0.36753	0.357000	0.24501	0.182000	0.21359	0.0:0.9284:0.0:0.0716	14.284	0.65787	262	0.89730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	4233.04	124	chr17	42845116	.	C	T	4233.04	.	AC=2;AF=0.167;AN=12;DP=302;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.14;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	5	1	0	0
chr17	42850295	42850295	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon4:c.G2137A:p.D713N,AOC2:NM_009590:exon4:c.G2218A:p.D740N	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0055010911542	0.0020	0.00119808	0.0019	0.0020	0.0003	0	0.0067	0.0022	0.0099	0.0004	0.0016106	249	154602	rs114818002	0.0012	0.0012	0.0012	0.0012	0.0022	0.0011	0.0011	0.0018	0.0017	0.0022	0.0003	0.0016	5.041e-05	0.0069	0.0005	0.0010	0.0013	0.0004	0.0024	0.0024	0.0024	0.0024	0.0030	0.0022	0.0021	0.0027	0.0025	0.0022	0	0.0001	0.0012	0	0.0054	0.0102	0.0030	0.0014	0.0002	0.076	0.34982	T	0.102	0.38450	T	0.054	0.25173	B	0.03	0.27321	B	0.119509	0.19071	N	0.532850	1	0.08975	N	0.895	0.22405	L	3.84	0.03675	T	-0.91	0.24460	N	0.079	0.07811	-0.9291	0.44270	T	0.005	0.01688	T	10	0.0035673082	0.00064	T	0.005501	0.14166	T	0.019	0.03383	.	.	0.255777322467	0.25185	0.6343885094708774	0.63372	0.0253377058962	0.02582	0.246080964804	0.03366	T	0.118207	0.43885	T	-0.728508	0.00024	T	-0.814662	0.01563	T	0.00067986825435023	0.00006	T	0.149885	0.01253	T	0.041661363	0.06175	0.038420457	0.03707	0.041661363	0.06174	0.038420457	0.03706	-3.859	0.25848	T	.	.	0.064	0.01909	B	.;.	.;.	1.310177	0.17132	12.98	0.96226656148049883	0.29103	0.03764	0.09076	N	AEFDBI	0.085765	0.17387	N	-1.10786280800513	0.06503	0.2995071	-1.08402154411783	0.08014	0.3922569	0.965442818827192	0.28831	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.19	0.224	0.14572	-0.113000	0.10745	-0.627000	0.08144	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2246:0.4101:0.3653:0.0	10.896	0.46234	260	0.89800	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2035.83	36	chr17	42850295	.	G	A	2035.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=350;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-2.34;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr17	43013137	43013137	C	T	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon3:c.C211T:p.R71W,IFI35:NM_005533:exon3:c.C211T:p.R71W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0407514675776	0.0008	0.000599042	0.0010	0.0005	0.0010	0.0002	0	0.0010	0	0.0019	0.0009185	142	154602	rs139469566	0.0013	0.0013	0.0013	0.0013	0.0021	0.0013	0.0012	0.0018	0.0017	0.0003	0.0009	0.0002	0.0002	1.872e-05	0.0002	0.0015	0.0009	0.0021	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0009	0.0008	0.0004	0	0.0005	0	0.0004	0.0002	0	0.0011	0	0.0015	0.003	0.68238	D	0.017	0.60972	D	0.999	0.77913	D	0.91	0.64641	D	0.004331	0.33859	N	0.281959	1	0.08975	N	2.135	0.59519	M	0.64	0.52867	T	-4.07	0.75695	D	0.434	0.47301	-0.8304	0.53276	T	0.215	0.57626	T	10	0.026437521	0.00810	T	0.040751	0.59547	D	0.165	0.42395	.	.	0.626000124322	0.62295	0.5878690323945133	0.58716	0.402954233708	0.41245	0.2135104388	0.00969	T	0.185368	0.53832	T	-0.409811	0.01993	T	-0.367608	0.37169	T	0.0360937052369715	0.02997	T	0.863414	0.55914	D	0.31382996	0.54115	0.23268425	0.48437	0.31382996	0.54115	0.23268425	0.48436	-7.414	0.57003	T	.	.	0.115	0.23430	B	.;.	.;.	2.913475	0.38653	20.8	0.99774793208082246	0.86260	0.08689	0.14582	N	AEFBCI	0.190001	0.31724	N	-0.37730709519006	0.26280	1.433029	-0.585490439647299	0.19871	1.068095	0.740976060941773	0.23211	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	5.03	1.64	0.22949	-0.104000	0.10893	0.456000	0.18569	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.5556:0.4444:0.0:0.0	11.813	0.51467	316	0.87161	Nmi/IFP 35 domain, 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1455.83	34	chr17	43013137	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.125;DP=291;ExcessHet=0;FS=4.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.09;SOR=0.594	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1466,0,1522	5	0	1	0
chr17	43013615	43013615	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G515A:p.R172Q,IFI35:NM_005533:exon5:c.G521A:p.R174Q	.	428	1056	34	4	0	42	0.0194986	.	.	.	704159	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0078	0.00359425	0.0082	0.0014	0.0051	0.0007	0.0021	0.0129	0.0132	0.0021	0.0081047	1253	154602	rs150695787	0.0079	0.0079	0.0079	0.0079	0.0241	0.0078	0.0077	0.0208	0.0196	0.0016	0.0063	0.0530	0.0007	0.0024	0.0241	0.0078	0.0106	0.0025	0.0066	0.0066	0.0069	0.0064	0.0091	0.0063	0.0062	0.0079	0.0077	0.0013	0	0.0091	0.0510	0.0004	0.0026	0.0306	0.0085	0.0066	0.0023	0.106	0.29688	T	0.164	0.31125	T	1.0	0.90584	D	0.984	0.76113	D	0.000008	0.62929	D	0.070465	0.999871	0.19925	N	2.79	0.81396	M	0.86	0.46777	T	-0.9	0.24244	N	0.498	0.53093	-0.7704	0.56836	T	0.223	0.58639	T	10	0.006929964	0.00157	T	.	.	.	0.200	0.48430	.	.	0.484913652648	0.48122	0.5970993023511315	0.59640	0.42604554479	0.42993	0.395032167435	0.24376	T	0.092352	0.38987	T	-0.480353	0.00736	T	-0.452383	0.27434	T	0.0261459651015416	0.01425	T	0.870213	0.59878	D	0.5297764	0.68818	0.3845513	0.63393	0.5297764	0.68819	0.3845513	0.63393	-2.963	0.12106	T	.	.	0.180	0.41663	B	.;.	.;.	4.535300	0.71241	25.6	0.99907404038604708	0.97801	0.82571	0.41780	D	AEFDGBCI	0.396265	0.47280	N	0.393977632713726	0.61094	4.306173	0.261546070718918	0.53307	3.500443	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	4.244000	0.58522	11.797000	0.96542	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.247000	0.23184	0.0:0.0:1.0:0.0	14.994	0.71068	319	0.87030	.;.	CTD-3014M21.1|TMEM106A|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|RND2|CTD-3014M21.1|CTD-3014M21.1|COASY|NBR2|ARL4D|CTD-3014M21.1	Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood	COASY|COASY|COASY|PSMC3IP	Adipose_Visceral_Omentum|Brain_Cerebellum|Esophagus_Muscularis|Spleen	rs150695787	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.010101	0.024457	0.017544	0.000000	0.008621	0.045732	0.007576	0.08333	929.83	98	chr17	43013615	.	G	A	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.747;DP=414;ExcessHet=0;FS=10.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.899;SOR=0.747	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	5	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	465.72	53	chr17	43209576	.	C	T	465.72	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.884;DP=198;ExcessHet=0.6695;FS=147.175;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=0.531;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:22,0:22:0:.:.:0,0,150:.	2	0	2	2
chr17	43814227	43814227	C	T	exonic	MPP3	.	nonsynonymous SNV	MPP3:NM_001330233:exon15:c.G1219A:p.G407R,MPP3:NM_001932:exon15:c.G1144A:p.G382R,MPP3:NM_001353080:exon16:c.G1168A:p.G390R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00887170827542	.	.	4.166e-05	0	0	0	0	7.532e-05	0	0	3.23e-05	5	154602	rs757509188	6.022e-05	6.02e-05	4.358e-05	7.703e-05	0.0014	4.963e-05	4.628e-05	0.0007	0.0005	2.987e-05	2.237e-05	0	2.519e-05	1.887e-05	0.0014	5.486e-05	0.0001	6.959e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.028	0.46129	D	0.064	0.44905	T	0.971	0.57185	D	0.477	0.46994	P	0.013276	0.28895	N	0.416385	0.99999	0.08975	N	1.545	0.39105	L	2.4	0.15608	T	-3.75	0.71157	D	0.486	0.52029	-1.0692	0.09590	T	0.039	0.16720	T	10	0.3132466	0.48777	T	0.008872	0.23390	T	0.075	0.21907	0.264	0.20946	0.573751148353	0.57043	0.5887113101753926	0.58801	0.931011195886	0.71814	0.44305601716	0.30995	T	0.244345	0.61344	T	-0.288083	0.09829	T	-0.465684	0.25983	T	0.435808151960373	0.30275	T	0.954105	0.82903	D	0.12414902	0.29136	0.15397595	0.36159	0.12414902	0.29136	0.15397595	0.36158	-5.45	0.41397	T	0.2835554021337109	0.37923	0.146	0.32299	B	.;.	.;.	3.989780	0.58709	24.0	0.99681887556865489	0.79307	0.17337	0.19793	N	AEFDBHCI	0.126136	0.24294	N	-0.0618384059254505	0.39076	2.298571	-0.141280030732815	0.33745	1.93357	0.999999816698666	0.74766	0.658043	0.49183	0	0.563428	0.19063	0	0.659943	0.59835	0	0.662433	0.64102	0	.	.	5.84	2.65	0.30588	1.130000	0.31007	4.747000	0.44638	0.599000	0.40250	0.047000	0.21291	1.000000	0.68203	0.614000	0.31742	0.1446:0.7081:0.0:0.1473	6.602	0.21901	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1256.83	33	chr17	43814227	.	C	T	1256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.847;DP=309;ExcessHet=0;FS=2.389;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.817;SOR=0.495	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr17	44075340	44075340	G	A	exonic	G6PC3	.	nonsynonymous SNV	G6PC3:NM_001384165:exon5:c.G221A:p.R74Q,G6PC3:NM_138387:exon5:c.G566A:p.R189Q,G6PC3:NM_001384166:exon6:c.G221A:p.R74Q,G6PC3:NM_001384167:exon6:c.G221A:p.R74Q,G6PC3:NM_001384168:exon6:c.G221A:p.R74Q	Dursun syndrome, Autosomal recessive;Neutropenia, severe congenital 4, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	256184	not_specified|Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency	MedGen:CN169374|MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.085	0.0347021088263	0.0010	0.000599042	0.0006	0.0023	0.0016	0	0	0.0004	0.0022	6.056e-05	0.0005369	83	154602	rs140294222	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0020	0.0017	0.0013	0.0014	3.826e-05	5.038e-05	0	0.0031	0.0003	0.0010	6.956e-05	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0017	0	0	0	0.0068	0.0003	0.0043	0.0002	0.492	0.07944	T	0.491	0.25987	T	0.019	0.17989	B	0.008	0.13708	B	0.324157	0.14221	N	0.694222	0.642318	0.30605	N	1.895	0.50365	L	-0.91	0.75001	T	-0.53	0.16393	N	0.712	0.71498	-0.9252	0.44829	T	0.158	0.49094	T	10	0.008648664	0.00196	T	0.034702	0.55851	D	0.085	0.24743	.	.	0.43912465853	0.43530	0.18031501957428608	0.17950	0.352166808134	0.37058	0.309144586325	0.11778	T	0.606203	0.87452	D	-0.411089	0.01955	T	-0.369445	0.36952	T	0.00723247619867478	0.00083	T	0.725627	0.33984	T	0.09658571	0.22752	0.06916071	0.14538	0.10251412	0.24223	0.06441636	0.12905	-3.928	0.22723	T	0.13156623734328174	0.13948	0.078	0.10014	B	.;.	.;.	1.946726	0.24726	16.50	0.98064356103550987	0.37975	0.49068	0.28349	N	AEFGBCI	0.102890	0.20627	N	-0.718236640060728	0.15510	0.7822345	-0.544780002391415	0.20944	1.130749	0.999563400618358	0.40425	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.27	3.31	0.37025	1.124000	0.30934	1.232000	0.25050	0.676000	0.76740	0.236000	0.24706	0.049000	0.21787	0.908000	0.44358	0.1681:0.0:0.8319:0.0	9.284	0.36905	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1183.83	37	chr17	44075340	.	G	A	1183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.028;SOR=0.667	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	5	0	1	0
chr17	44399835	44399835	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2008T:p.R670W,GPATCH8:NM_001304939:exon7:c.C2167T:p.R723W,GPATCH8:NM_001304942:exon7:c.C2008T:p.R670W,GPATCH8:NM_001002909:exon8:c.C2242T:p.R748W,GPATCH8:NM_001304941:exon9:c.C2008T:p.R670W,GPATCH8:NM_001304940:exon10:c.C2008T:p.R670W	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0164068121102	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.069e-05	3.23e-05	5	154602	rs770210247	1.368e-05	1.368e-05	1.225e-05	1.513e-05	1.709e-05	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	1.159e-05	6.591e-06	6.57e-06	0	1.35e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.012	0.63918	D	1.0	0.90584	D	0.874	0.62049	P	0.000011	0.62929	D	0.062950	1	0.08975	N	1.59	0.40313	L	2.46	0.14907	T	.	.	.	0.213	0.23758	-1.1095	0.03113	T	0.043	0.18410	T	10	0.21068513	0.37471	T	0.016407	0.37653	T	.	.	0.234	0.16305	0.209943299407	0.20609	0.23969147870145646	0.23883	0.623617066207	0.56593	0.63408768177	0.57724	T	0.133418	0.46408	T	-0.23337	0.16206	T	-0.476142	0.24858	T	0.856830954551697	0.50764	D	0.914409	0.69449	D	0.14230692	0.32754	0.10286383	0.24665	0.14230692	0.32754	0.10286383	0.24665	-7.266	0.55953	T	.	.	0.198	0.42052	B	.	.	3.310529	0.45487	22.1	0.98473944521307155	0.41896	0.77959	0.38395	D	AEFBCI	0.297703	0.40721	N	0.218778252448068	0.52111	3.387279	0.185123410194699	0.49033	3.111349	0.113198404328728	0.16702	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.16	0.35406	1.463000	0.34887	5.849000	0.50320	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.235000	0.22869	0.0727:0.0:0.5066:0.4207	7.745	0.28032	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1175.83	40	chr17	44399835	.	G	A	1175.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=348;ExcessHet=0;FS=2.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.423;SOR=0.978	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1186,0,1428	5	0	1	0
chr17	44759745	44759745	G	A	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_002390:exon2:c.G85A:p.G29R	.	408	1110	4	0	0	4	0.00179856	.	.	.	2379753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0491880721029	.	0.000199681	0.0001	0	0	0	0	4.905e-05	0.0013	0.0010	0.0001229	19	154602	rs531659022	4.686e-05	6.909e-05	3.612e-05	5.845e-05	0.0012	3.685e-05	3.307e-05	0.0009	0.0008	0	0	0	0	0	0.0002	8.311e-06	0.0002	0.0012	3.281e-05	3.28e-05	1.284e-05	5.368e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.392	0.34646	B	0.106	0.31143	B	0.000525	0.43581	D	0.000000	1	0.81001	D	0	0.06538	N	4.31	0.02412	T	-0.51	0.15986	N	0.673	0.68082	-0.5980	0.64899	T	0.006	0.01907	T	10	0.1596052	0.29985	T	0.049188	0.63702	D	0.216	0.50959	0.54	0.65161	0.371344866733	0.36741	0.45736453302573615	0.45654	0.574880451545	0.53506	0.772888541222	0.77857	T	0.080025	0.36266	T	-0.399273	0.02341	T	-0.425565	0.30439	T	0.0535967454179689	0.06120	T	0.728327	0.34315	T	0.21395431	0.43788	0.28150257	0.54132	0.21395431	0.43788	0.28150257	0.54131	-4.083	0.25039	T	.	.	0.12	0.24767	B	.	.	3.505550	0.49069	22.7	0.6607662643066734	0.07954	0.79416	0.39348	D	AEFDBHCI	0.337306	0.43514	N	-0.38948392807271	0.25842	1.405895	-0.302795463519248	0.28008	1.558323	0.999999800275137	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.35	4.35	0.51454	2.541000	0.45394	5.568000	0.48935	0.575000	0.29119	0.576000	0.27554	1.000000	0.68203	0.278000	0.23967	0.0:0.0:1.0:0.0	12.343	0.54431	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003817	0.08333	603.83	35	chr17	44759745	.	G	A	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.182;DP=194;ExcessHet=0;FS=1.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.775;SOR=0.465	GT:AD:DP:GQ:PL	0/1:13,26:39:99:614,0,255	5	0	1	0
chr17	44805444	44805444	C	T	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.G374A:p.R125Q,GJC1:NM_005497:exon3:c.G374A:p.R125Q	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0909535775148	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778423212	1.026e-05	1.026e-05	1.225e-05	8.25e-06	0.0002	6.16e-06	4.89e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0.0002	8.094e-06	0	2.319e-05	6.573e-06	6.567e-06	0	1.345e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.099	0.38891	T	0.708	0.42036	P	0.124	0.32546	B	0.086802	0.20567	N	0.493202	0.994224	0.42205	D	1.98	0.53716	M	-4.68	0.97989	D	-2.07	0.47344	N	0.366	0.42345	0.392	0.88979	D	0.788	0.92822	D	10	0.32195783	0.49551	T	0.090954	0.75616	D	0.424	0.73226	0.411	0.44723	0.734530527931	0.73216	0.6167419203206294	0.61606	0.688196584197	0.60423	0.663557529449	0.61918	T	0.637217	0.88830	D	-0.0264551	0.47930	T	-0.0788059	0.64992	T	0.441454857587814	0.30483	T	0.856914	0.54589	D	0.08463027	0.19596	0.08923691	0.20857	0.08463027	0.19596	0.08923691	0.20856	-3.218	0.12701	T	.	.	0.230	0.46226	B	.;.;.;.	.;.;.;.	4.416924	0.68379	25.2	0.99676619908655428	0.78977	0.97691	0.76444	D	AEFBI	0.686974	0.64847	D	0.035549766339188	0.43478	2.639968	0.105224342541616	0.44815	2.756037	0.996988728224053	0.35173	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	3.09	0.34677	6.171000	0.71829	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.7607:0.0:0.2393	8.488	0.32242	407	0.82314	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1748.83	34	chr17	44805444	.	C	T	1748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=306;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.35;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	5	0	1	0
chr17	45121086	45121086	C	A	exonic	PLCD3	.	stopgain	PLCD3:NM_133373:exon3:c.G370T:p.E124X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766996087	0	1.163e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.055354	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	9.277472	0.98712	40	0.99730795366767966	0.82761	0.99462	0.96329	D	AEFBI	0.378492	0.46187	N	0.970431179673013	0.94761	13.01758	0.809170662752954	0.90423	10.40089	0.999999999302589	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.51	4.51	0.54589	7.793000	0.84418	4.814000	0.45064	0.507000	0.23093	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	16.000	0.80080	653	0.62661	Pleckstrin homology domain;Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology 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	.	.	.	.	.	.	.	.	0.08333	1222.83	34	chr17	45121086	.	C	A	1222.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.846;DP=264;ExcessHet=0;FS=5.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.752;SOR=0.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,937	5	0	1	0
chr17	45290657	45290657	G	A	exonic	MAP3K14	.	nonsynonymous SNV	MAP3K14:NM_003954:exon2:c.C89T:p.P30L	.	.	.	.	.	.	.	.	.	.	.	1922996	not_specified|NIK_deficiency	MedGen:CN169374|MONDO:MONDO:0018642,MedGen:C5680065,Orphanet:447731	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	.	.	.	7.454e-05	0	8.645e-05	0.0001	0	8.993e-05	0	6.056e-05	5.82e-05	9	154602	rs780884476	3.284e-05	3.283e-05	3.267e-05	3.301e-05	0.0007	2.543e-05	2.249e-05	0.0002	0.0001	0	8.944e-05	0	0	0	0.0007	2.878e-05	8.282e-05	3.478e-05	4.62e-05	4.599e-05	6.446e-05	2.704e-05	8.835e-05	2.118e-05	1.532e-05	3.767e-05	2.579e-05	0	0	6.584e-05	0	0	0	0	8.835e-05	0	0	.	.	.	0.074	0.42976	T	0.082	0.24665	B	0.007	0.12992	B	0.685688	0.10219	N	0.852326	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.06990	-1.0207	0.23486	T	0.080	0.31586	T	7	0.048900902	0.04403	T	.	.	.	0.035	0.08770	0.193	0.10437	0.101711395817	0.09552	0.20859785998675281	0.20775	.	.	0.264124453068	0.05392	T	0.225323	0.59001	T	-0.293075	0.09330	T	-0.433056	0.29589	T	0.27300238609314	0.23875	T	0.562944	0.19809	T	0.03444202	0.03864	0.04128363	0.04657	0.03444202	0.03864	0.04128363	0.04657	-3.146	0.11832	T	.	.	0.060	0.01428	B	.;.;.;.	.;.;.;.	0.533767	0.09024	5.807	0.71637914216505738	0.09697	0.09378	0.15146	N	AEFBCI	.	.	.	-1.51291941691022	0.01764	0.07727521	-1.52945977226423	0.02120	0.09704639	0.999387321968371	0.39415	0.139865	0.03177	0	0.178	0.04075	0	0.175069	0.04249	0	0.195515	0.04268	0	0.112758	0.23879	5.81	-0.529	0.11307	0.849000	0.27375	0.200000	0.15841	-1.566000	0.00940	0.041000	0.21027	0.032000	0.21310	0.001000	0.02609	0.2354:0.0:0.3769:0.3877	7.310	0.25643	566	0.70798	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1148.83	37	chr17	45290657	.	G	A	1148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=316;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.886;SOR=0.769	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr17	45405857	45405857	A	G	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385385:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385386:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385387:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385388:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385389:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385390:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385391:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385392:exon2:c.T284C:p.V95A,ARHGAP27:NM_001282290:exon5:c.T884C:p.V295A,ARHGAP27:NM_001385384:exon5:c.T884C:p.V295A	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0141595204304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399330561	4.335e-06	4.104e-06	2.853e-06	5.857e-06	0.0005	1.56e-06	1.03e-06	0.0001	7.636e-05	0	0	0	0	0	0.0005	2.781e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.13699	T	1.0	0.13215	T	.	.	.	.	.	.	0.306209	0.03986	N	1.446160	1	0.19925	N	1.63	0.41750	L	3.54	0.43279	T	0.42	0.07299	N	0.063	0.03502	-1.0222	0.22998	T	0.042	0.18243	T	9	0.038904727	0.02341	T	0.01416	0.34088	T	0.041	0.10877	0.183	0.09131	0.202949470691	0.19918	0.4443498175461873	0.44352	.	.	.	.	.	0.003815	0.07757	T	-0.223458	0.17522	T	-0.558758	0.16493	T	0.200626283884048	0.20450	T	0.532847	0.22875	T	0.023885956	0.01167	0.027719004	0.00946	0.023885956	0.01167	0.027719004	0.00946	-2.617	0.06633	T	.	.	0.075	0.05711	B	.;.;.;.	.;.;.;.	1.518979	0.19502	14.30	0.6709542234353516	0.08253	0.04038	0.09478	N	AEFDBHI	0.068570	0.13532	N	-0.744246134999096	0.14791	0.739762	-0.670128001064713	0.17709	0.9428559	0.999998993406041	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.519653	0.09787	0	0.655142	0.61905	0	.	.	5.04	1.36	0.21139	0.148000	0.16042	4.542000	0.43768	0.740000	0.86194	0.000000	0.06391	1.000000	0.68203	0.706000	0.34326	0.6161:0.0:0.2016:0.1823	2.942	0.05477	385	0.83500	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1473.83	34	chr17	45405857	.	A	G	1473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.595;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.546;SOR=0.746	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1484,0,1171	5	0	1	0
chr17	45453460	45453460	G	C	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon7:c.C2392G:p.Q798E,PLEKHM1:NM_014798:exon7:c.C2392G:p.Q798E	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0356683685665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.024	0.56640	D	0.987	0.61912	D	0.625	0.51564	P	0.000278	0.46590	D	0.157646	0.978956	0.40555	D	1.955	0.52871	M	-0.09	0.64086	T	-1.02	0.26843	N	0.417	0.45709	-0.7156	0.59678	T	0.274	0.64556	T	10	0.34252667	0.51282	T	0.035668	0.56494	D	0.151	0.39764	0.394	0.41935	0.690208926127	0.68754	0.5413457682836716	0.54059	1.77695890874	0.91349	0.568832755089	0.48512	T	0.06053	0.31411	T	-0.0643021	0.42233	T	-0.330142	0.41453	T	0.657010687019235	0.38765	D	.	.	.	0.1660082	0.36909	0.21783608	0.46465	0.1660082	0.36909	0.21783608	0.46464	-4.909	0.35836	T	.	.	0.082	0.08948	B	.	.	4.282679	0.65252	24.8	0.99129237038883833	0.53222	0.96658	0.70254	D	AEFBI	0.631851	0.61268	D	0.4233757050402	0.62709	4.491463	0.442934408089635	0.64263	4.677686	0.254771504151335	0.18721	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	5.264000	0.65329	11.756000	0.95519	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.545	0.84291	368	0.84463	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	418.83	33	chr17	45453460	.	G	C	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.111;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.2;MQRankSum=0.89;QD=9.97;ReadPosRankSum=0.038;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1115	5	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.1667	953.06	33	chr17	46872579	.	A	G	953.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.042;DP=224;ExcessHet=0.4139;FS=1.672;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.248;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	4	0	2	0
chr17	47708814	47708897	CCCCCGTGCCAGTCCCCCGTCCCCCAGCGCCGCTCTCCCGTGCCCCCGTGCCCCTCGCCGCAGCAGCGCCGCTCTCCGGCCTCA	-	exonic	TBKBP1	.	nonframeshift deletion	TBKBP1:NM_014726:exon8:c.1081_1164del:p.P362_P389del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	61.44	1	chr17	47708813	.	CCCCCCGTGCCAGTCCCCCGTCCCCCAGCGCCGCTCTCCCGTGCCCCCGTGCCCCTCGCCGCAGCAGCGCCGCTCTCCGGCCTCA	C	61.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=31;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.07;SOR=0.027	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,131	5	0	1	0
chr17	49711281	49711281	G	A	exonic	FAM117A	.	nonsynonymous SNV	FAM117A:NM_030802:exon8:c.C1336T:p.L446F	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00512514840755	.	.	3.506e-05	0	8.741e-05	0	0	0	0	0.0002	5.17e-05	8	154602	rs768720119	1.099e-05	1.231e-05	8.19e-06	1.382e-05	0.0002	6.51e-06	5.26e-06	3.007e-05	2.045e-05	0	4.508e-05	0	0	0	0.0002	5.412e-06	1.666e-05	6.99e-05	1.314e-05	1.313e-05	0	2.689e-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	0.006	0.61437	D	0.131	0.34716	T	0.99	0.63424	D	0.901	0.63994	P	0.021226	0.26875	N	0.181868	0.812893	0.34666	D	0.55	0.14455	N	.	.	.	-1.2	0.30555	N	0.356	0.43320	-0.8380	0.52780	T	0.101	0.37392	T	9	0.153775	0.29019	T	0.005125	0.13001	T	0.107	0.30369	0.099	0.01433	0.0482279557977	0.04254	0.28957939212064926	0.28870	1.05480476206	0.76289	0.613666892052	0.54834	T	0.044822	0.26933	T	-0.205638	0.19996	T	-0.296492	0.45094	T	0.291990607976913	0.24672	T	0.730727	0.34650	T	0.08952903	0.20922	0.09151522	0.21519	0.08952903	0.20922	0.09151522	0.21518	-4.612	0.32322	T	.	.	0.100	0.27373	B	.;.	.;.	3.623186	0.51284	23.1	0.99863370617303093	0.94184	0.85221	0.44335	D	AEFDBI	0.362204	0.45155	N	0.29081338621149	0.55682	3.732267	0.32799486899558	0.57191	3.884007	0.078816272232719	0.15799	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.12	4.15	0.47978	1.532000	0.35634	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0843:0.1557:0.76:0.0	8.439	0.31967	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	397.83	33	chr17	49711281	.	G	A	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.244;DP=196;ExcessHet=0;FS=1.405;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.294;SOR=1.123	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1095	5	0	1	0
chr17	49798438	49798438	G	A	exonic	KAT7	.	nonsynonymous SNV	KAT7:NM_001199155:exon4:c.G460A:p.A154T,KAT7:NM_007067:exon4:c.G460A:p.A154T	.	430	1082	10	0	0	10	0.00459982	.	.	.	4151717	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00498300778934	7.7e-05	0.000199681	0.0001	0	0	0	0	5.994e-05	0	0.0005	9.7e-05	15	154602	rs374961973	9.713e-05	9.713e-05	6.67e-05	0.0001	0.0009	8.376e-05	7.915e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0009	5.845e-05	0.0003	0.0006	7.879e-05	7.874e-05	8.994e-05	6.714e-05	0.0006	4.494e-05	3.51e-05	0.0002	8.992e-05	0	0	6.535e-05	0	0	0	0	0.0001	0.0005	0.0006	0.059	0.37536	T	0.31	0.22561	T	0.087	0.24971	B	0.012	0.16012	B	0.000031	0.55875	D	0.161258	0.999999	0.81001	D	0.975	0.24501	L	.	.	.	-0.43	0.14390	N	0.214	0.27792	-0.9189	0.45702	T	0.175	0.51864	T	9	0.04143229	0.02799	T	0.004983	0.12566	T	0.060	0.17295	.	.	0.221890330934	0.21812	0.5754939539237162	0.57478	0.754994403058	0.63972	0.758369863033	0.75687	T	0.073684	0.34756	T	-0.320061	0.06892	T	-0.361262	0.37905	T	0.0746161028858602	0.09283	T	0.940406	0.77539	D	0.11227185	0.26525	0.10373285	0.24896	0.11227185	0.26525	0.10373285	0.24896	-3.179	0.12226	T	.	.	0.070	0.17488	B	.;.	.;.	3.324704	0.45740	22.2	0.99865360508876788	0.94366	0.95475	0.64868	D	AEFDBHCIJ	0.740432	0.68468	D	0.00338514986074685	0.42010	2.523179	0.197927053765125	0.49734	3.173078	0.999999999128915	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.04	5.05	0.67566	6.826000	0.75090	8.634000	0.77865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8656:0.1344	16.189	0.81787	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1546.83	34	chr17	49798438	.	G	A	1546.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.608;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.321;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	5	0	1	0
chr17	50108622	50108622	G	A	exonic	PDK2	.	nonsynonymous SNV	PDK2:NM_001199899:exon9:c.G680A:p.R227Q,PDK2:NM_002611:exon9:c.G872A:p.R291Q,PDK2:NM_001199898:exon10:c.G680A:p.R227Q	.	.	.	.	.	.	.	.	.	.	.	2341482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00904376671767	0.0004	.	0.0005	0.0005	0	0.0001	0	0.0007	0	7.745e-05	0.0004075	63	154602	rs148586321	0.0004	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0004	0.0002	3.841e-05	0	1.876e-05	0.0002	0.0006	0.0002	1.168e-05	0.0009	0.0009	0.0009	0.0010	0.0006	0.0008	0.0008	0.0003	0.0003	0.0003	0.0978	0.0006	0	0	0	0	0.0005	0.0005	0	0.244	0.19023	T	0.216	0.27235	T	0.152	0.28062	B	0.021	0.19346	B	0.193065	0.16795	N	0.466119	0.975639	0.39206	D	0.31	0.10265	N	0.55	0.54728	T	-1.83	0.43717	N	0.33	0.38027	-1.0235	0.22573	T	0.090	0.34518	T	10	0.015206218	0.00319	T	0.009044	0.23797	T	0.042	0.11227	.	.	0.554920031903	0.55151	0.5237461796740468	0.52298	0.645396714741	0.57992	0.590987503529	0.51633	T	0.333237	0.70311	T	-0.385264	0.02885	T	-0.44845	0.27868	T	0.0302910893873694	0.02035	T	0.834417	0.51562	T	0.24345095	0.47283	0.1848079	0.41555	0.24345095	0.47283	0.1848079	0.41554	-6.875	0.53336	T	.	.	0.071	0.04002	B	.;.;.;.	.;.;.;.	4.285492	0.65313	24.8	0.99443224251336715	0.64870	0.85938	0.45131	D	AEFDGBCI	0.585397	0.58384	D	-0.292007423664452	0.29455	1.633623	-0.166579719423912	0.32775	1.868007	0.998685715976869	0.37455	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	2.93	0.33092	4.009000	0.56822	8.717000	0.78152	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2078:0.0:0.7922:0.0	7.520	0.26793	807	0.43470	.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	916.83	34	chr17	50108622	.	G	A	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=250;ExcessHet=0;FS=2.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.55;SOR=0.426	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1478	5	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K,EME1:NM_152463:exon2:c.T567A:p.N189K	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.012228	0.002924	0.000000	0.008621	0.021341	0.015152	0.08333	2250.83	45	chr17	50375775	.	T	A	2250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.65;DP=414;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.818;SOR=0.595	GT:AD:DP:GQ:PL	0/1:123,92:215:99:2261,0,3104	5	0	1	0
chr17	50380907	50380907	C	T	exonic	EME1	.	stopgain	EME1:NM_001166131:exon9:c.C1720T:p.Q574X,EME1:NM_152463:exon9:c.C1681T:p.Q561X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753020589	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004030	0.34196	N	0.233151	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.674	0.69562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40185	0.90019	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.740342	0.97959	38	0.99448065024708698	0.65122	0.97912	0.78070	D	AEFDBHCI	0.180135	0.30744	N	0.904479014301403	0.91979	11.16663	0.726585418007053	0.84395	8.280572	0.999999223525419	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	6.16	5.14	0.70008	1.567000	0.36016	4.798000	0.44948	0.599000	0.40250	0.923000	0.32050	1.000000	0.68203	0.814000	0.38357	0.2236:0.5415:0.2349:0.0	9.084	0.35731	934	0.15400	.;.;.	.	.	.	.	.	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	2025.83	38	chr17	50380907	.	C	T	2025.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.217;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.592;SOR=0.709	GT:AD:DP:GQ:PL	0/1:74,84:158:99:2036,0,1869	5	0	1	0
chr17	50516574	50516574	G	T	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon2:c.G81T:p.K27N,MYCBPAP:NM_032133:exon2:c.G81T:p.K27N	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0234571458418	.	.	1.66e-05	0	0	0	0	1.511e-05	0	6.084e-05	1.29e-05	2	154602	rs776097777	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0009	9.86e-06	8.42e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.893e-06	3.313e-05	4.644e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-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	0.008	0.65419	D	0.035	0.63918	D	.	.	.	.	.	.	0.062530	0.22091	N	0.502042	0.657591	0.33022	D	.	.	.	1.34	0.35405	T	-1.79	0.44657	N	0.165	0.19995	-0.5806	0.65593	T	0.171	0.51261	T	10	0.19212589	0.34927	T	0.023457	0.46421	T	0.130	0.35528	0.162	0.06618	0.607840211571	0.60469	.	.	0.676429234034	0.59765	0.527547240257	0.42689	T	0.111189	0.42649	T	-0.323537	0.06612	T	-0.520987	0.20195	T	0.743231594562531	0.42912	D	0.727427	0.34191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.60351	A	.;.;.	.;.;.	4.573448	0.72174	25.8	0.9955122251556171	0.71148	0.94364	0.60930	D	AEFBI	0.750898	0.69187	D	0.61085542719322	0.73858	6.035666	0.579695901923337	0.73484	5.978276	0.981774866263096	0.30309	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.4	5.4	0.77957	4.786000	0.62117	6.605000	0.56069	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.0779:0.0:0.9221:0.0	12.523	0.55417	928	0.17405	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	722.83	40	chr17	50516574	.	G	T	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.714;DP=223;ExcessHet=0;FS=3.129;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.83;SOR=0.283	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1253	5	0	1	0
chr17	50541243	50541243	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon8:c.T1264C:p.F422L	.	416	1101	4	1	0	6	0.00271739	.	.	.	2398096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.0141825201783	.	0.000199681	6.59e-05	0	0	0	0	7.493e-05	0.0011	0.0001	6.47e-05	10	154602	rs193150553	0.0001	0.0001	0.0001	0.0001	0.0151	0.0001	0.0001	0.0125	0.0116	8.961e-05	0	0	0	0	0.0151	5.306e-05	0.0003	0.0001	7.225e-05	7.218e-05	3.856e-05	0.0001	4.411e-05	3.97e-05	3.126e-05	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0.0204	4.411e-05	0.0005	0	0.059	0.37536	T	0.228	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.814410	0.09226	N	0.865719	1	0.81001	D	1.89	0.50145	L	0.24	0.59583	T	-2.9	0.60827	D	0.289	0.32701	-0.9465	0.41566	T	0.176	0.51990	T	10	0.15172276	0.28672	T	0.014183	0.34122	T	0.140	0.37593	.	.	0.862625972627	0.86129	0.24191483975762648	0.24105	0.191962338757	0.21522	0.471148610115	0.34839	T	0.239268	0.60735	T	-0.25405	0.13607	T	-0.400048	0.33380	T	0.0395641922950745	0.03612	T	0.60194	0.22516	T	0.19060323	0.40653	0.176594	0.40204	0.19060323	0.40653	0.176594	0.40204	-4.323	0.28498	T	.	.	0.517	0.65350	A	.	.	3.153646	0.42703	21.6	0.988751782024193	0.47719	0.10979	0.16325	N	AEFDGBCI	0.114711	0.22583	N	-0.37879253561079	0.26227	1.429715	-0.302100713721761	0.28031	1.559737	0.999999677528642	0.74766	0.676563	0.55306	0	0.475579	0.06741	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.76	4.76	0.60189	2.383000	0.44008	6.019000	0.52765	0.651000	0.53179	0.920000	0.31959	1.000000	0.68203	0.656000	0.32857	0.0:0.0884:0.0:0.9116	8.444	0.31990	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.015152	0.013587	0.017544	0.000000	0.025862	0.003049	0.003788	0.1667	4635.04	146	chr17	50541243	.	T	C	4635.04	.	AC=2;AF=0.167;AN=12;DP=356;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.75;SOR=1.186	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1410	5	1	0	0
chr17	50548318	50548318	C	T	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.C113T:p.T38M,SPATA20:NM_022827:exon3:c.C161T:p.T54M	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00823412057003	0.0002	0.000199681	0.0005	0.0001	0	0	0.0008	0.0008	0.0012	0.0001	0.0004916	76	154602	rs200398203	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0007	0.0007	0.0007	0.0002	0.0002	0.0058	0.0001	0.0010	0.0005	0.0007	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0001	0	0.0003	0.0046	0	0.0005	0	0.0009	0.0009	0	0.011	0.55530	D	0.149	0.33894	T	0.993	0.65571	D	0.545	0.49043	P	0.779891	0.06648	N	1.117700	1	0.30426	N	0.55	0.14455	N	1.92	0.23486	T	-0.49	0.16393	N	0.398	0.43899	-1.0321	0.19777	T	0.050	0.21300	T	10	0.007062793	0.00161	T	0.008234	0.21801	T	0.090	0.26093	.	.	0.333154297509	0.32921	0.4282390430144596	0.42740	0.595903518009	0.54850	0.418891131878	0.27684	T	0.068048	0.33357	T	-0.433865	0.01406	T	-0.479026	0.24549	T	0.195240646600723	0.20149	T	0.857114	0.54640	D	0.046034068	0.07637	0.046353687	0.06442	0.046034068	0.07637	0.046353687	0.06441	-4.944	0.40785	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	2.297809	0.29402	18.11	0.98043451673512116	0.37805	0.31486	0.24349	N	AEFDGBCI	0.147099	0.27069	N	-0.256895352834447	0.30828	1.72274	-0.299660115106044	0.28111	1.564745	0.999999762677816	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.606735	0.37207	0	0.727631	0.95156	0	.	.	4.69	3.71	0.41733	2.560000	0.45559	3.092000	0.36283	0.599000	0.40250	0.026000	0.20160	0.066000	0.22130	0.807000	0.38039	0.0:0.8069:0.1931:0.0	10.713	0.45192	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2638.83	39	chr17	50548318	.	C	T	2638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=375;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.06;SOR=0.485	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,118,1743	5	0	1	0
chr17	51161793	51161793	C	G	exonic	NME1	.	nonsynonymous SNV	NME1:NM_000269:exon5:c.C407G:p.P136R,NME1:NM_198175:exon6:c.C482G:p.P161R	Neuroblastoma, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0247487272517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.031	0.53788	D	0.085	0.24868	B	0.103	0.30945	B	.	.	.	.	0.806169	0.34577	D	2.735	0.79925	M	-1.05	0.76690	T	-4.85	0.82638	D	0.255	0.42639	-0.3746	0.72820	T	0.489	0.80550	T	9	0.1975165	0.35686	T	0.024749	0.47736	T	0.290	0.60924	0.409	0.44395	0.917875564924	0.91704	0.7052591553073305	0.70467	0.449017913786	0.44711	.	.	.	0.359327	0.72575	T	0.0484719	0.58147	T	-0.16815	0.57613	T	0.81770920753479	0.47603	D	0.844016	0.52235	T	0.44900948	0.63978	0.42976063	0.66648	0.44900948	0.63979	0.42976063	0.66648	-9.051	0.68025	D	.	.	0.073	0.08560	B	.;.;.	.;.;.	3.436207	0.47779	22.5	0.98231699406706696	0.39396	0.43043	0.27011	N	AEFDBHCI	0.694703	0.65362	D	-0.00148107297099333	0.41788	2.505864	0.0688717972393935	0.42994	2.610407	0.263400505350585	0.18815	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	1.174000	0.31541	2.671000	0.33948	0.599000	0.40250	0.002000	0.15269	0.969000	0.29651	0.991000	0.66497	0.1409:0.8591:0.0:0.0	15.189	0.72711	874	0.30607	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-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	.	.	.	.	.	.	.	.	0.08333	730.83	35	chr17	51161793	.	C	G	730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.157;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.75;SOR=0.619	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1261	5	0	1	0
chr17	53824754	53824754	T	C	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.T1721C:p.M574T	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00425060180804	.	0.000399361	0.0005	9.709e-05	0	0	0	0	0	0.0036	0.000401	62	154602	rs573802436	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	2.236e-05	0	0	0	0	2.698e-06	0.0002	0.0037	8.538e-05	8.531e-05	6.428e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	2.407e-05	0	0	0	0	0	0	0	0	0.0025	0.612	0.05436	T	0.59	0.08217	T	0.0	0.02946	B	0.002	0.06944	B	0.844780	0.07021	N	1.098620	1	0.08975	N	0.46	0.12951	N	-0.7	0.72785	T	-0.57	0.17210	N	0.038	0.01203	-1.0033	0.28963	T	0.108	0.39099	T	10	0.0048318207	0.00103	T	0.004251	0.10278	T	0.071	0.20720	0.392	0.41606	0.209622950755	0.20551	0.16669700884593416	0.16589	0.112616815812	0.12714	0.281063586473	0.07641	T	0.006055	0.05488	T	-0.494299	0.00615	T	-0.484908	0.23926	T	0.0281798973618682	0.01715	T	0.260774	0.04184	T	0.054527488	0.10474	0.063646875	0.12640	0.054527488	0.10473	0.063646875	0.12640	-2.148	0.03796	T	.	.	0.098	0.16231	B	.	.	0.323355	0.06979	3.530	0.21730297863769654	0.00841	0.15202	0.18794	N	AEFBI	0.056581	0.10471	N	-1.15065923857356	0.05768	0.2638606	-1.10622172686358	0.07581	0.3692998	2.18322008141125E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	1.16	0.19936	0.545000	0.22976	-0.199000	0.10963	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.148000	0.20235	0.1925:0.1091:0.1839:0.5145	1.064	0.01507	887	0.27948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1375.83	65	chr17	53824754	.	T	C	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=423;ExcessHet=0;FS=2.501;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.514;SOR=0.999	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr17	56350808	56350808	T	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon4:c.T240G:p.H80Q,ANKFN1:NM_001365758:exon5:c.T27G:p.H9Q,ANKFN1:NM_001370326:exon5:c.T231G:p.H77Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00285779741616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.989e-05	5.5e-07	1.5e-07	.	.	2.989e-05	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.05551	T	1.0	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.000738	0.42129	D	0.283505	0.909231	0.27542	N	0.55	0.14455	N	2.03	0.28391	T	-0.3	0.11913	N	0.16	0.18649	-0.9836	0.34164	T	0.018	0.07423	T	10	0.05370623	0.05604	T	0.002858	0.06015	T	0.055	0.15663	0.159	0.06287	0.495103902096	0.49147	0.38254031959210855	0.38169	0.136113371255	0.15346	0.468614161015	0.34489	T	0.001451	0.01158	T	-0.302401	0.08434	T	-0.672155	0.07470	T	0.11569107256836	0.14004	T	0.746125	0.36895	T	0.05432778	0.10408	0.037628125	0.03456	0.05432778	0.10408	0.037628125	0.03456	-4.08	0.24994	T	.	.	0.139	0.45532	B	.;.;.;.	.;.;.;.	1.268902	0.16672	12.69	0.95758380143390642	0.27744	0.45465	0.27545	N	AEFBI	0.104183	0.20852	N	-0.642975362944973	0.17665	0.9109423	-0.440029368195221	0.23833	1.30178	1.73893627934013E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.57	1.91	0.24841	0.728000	0.25682	0.310000	0.17073	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.1155:0.1457:0.2854:0.4534	2.072	0.03396	385	0.83500	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1610.83	33	chr17	56350808	.	T	G	1610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.25;DP=282;ExcessHet=0;FS=6.088;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.201;SOR=0.332	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	5	0	1	0
chr17	56442850	56442850	A	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.A1025T:p.Q342L,ANKFN1:NM_001365758:exon10:c.A812T:p.Q271L,ANKFN1:NM_001370326:exon10:c.A1016T:p.Q339L	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0145775853124	0.0005	0.00179712	0.0015	0.0002	0.0003	0	0	0.0005	0	0.0086	0.0013001	201	154602	rs138097635	0.0009	0.0009	0.0007	0.0012	0.0088	0.0009	0.0009	0.0083	0.0081	2.99e-05	0.0002	0	0	1.872e-05	0.0019	0.0005	0.0010	0.0088	0.0005	0.0005	0.0004	0.0007	0.0091	0.0004	0.0004	0.0070	0.0062	7.214e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0091	0.085	0.32769	T	0.749	0.04947	T	0.0	0.02946	B	0.002	0.06944	B	0.614292	0.10837	N	0.843651	0.974027	0.39071	D	0.49	0.13296	N	0.4	0.57261	T	-2.7	0.57599	D	0.481	0.54322	-0.9330	0.43695	T	0.112	0.40075	T	10	0.011397332	0.00249	T	0.014578	0.34790	T	0.155	0.40530	.	.	0.752388196393	0.75015	0.3353151183126032	0.33444	0.133193001457	0.15002	0.335406512022	0.15749	T	0.070273	0.33919	T	-0.440084	0.01292	T	-0.399095	0.33490	T	0.0114340405796002	0.00171	T	0.729627	0.35069	T	0.14905336	0.34000	0.1154978	0.27881	0.14905336	0.34000	0.1154978	0.27881	-4.794	0.34521	T	.	.	0.087	0.19720	B	.;.;.	.;.;.	1.388433	0.18007	13.50	0.97596094857714044	0.34820	0.28391	0.23541	N	AEFBHI	0.111405	0.22057	N	-0.431141043181645	0.24384	1.316241	-0.331122646317336	0.27098	1.501368	2.60303297487455E-4	0.06190	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	3.16	0.35406	0.229000	0.17614	3.396000	0.38099	-0.092000	0.16129	0.490000	0.26879	1.000000	0.68203	0.936000	0.47498	0.4646:0.0:0.2092:0.3262	2.573	0.04507	188	0.92666	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	38	chr17	56442850	.	A	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.426;DP=275;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.35;SOR=0.843	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1249	5	0	1	0
chr17	56457268	56457268	T	C	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon12:c.T1328C:p.I443T,ANKFN1:NM_001365758:exon13:c.T1115C:p.I372T,ANKFN1:NM_001370326:exon13:c.T1319C:p.I440T	.	508	1007	6	1	0	8	0.00395648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0005	0.00199681	0.0014	0	0.0004	0	0	0.0006	0.0035	0.0088	0.0011643	180	154602	rs147516817	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0061	0.0059	0	0.0001	0.0005	2.53e-05	0	0.0043	0.0004	0.0010	0.0066	0.0004	0.0004	0.0002	0.0006	0.0060	0.0003	0.0003	0.0043	0.0037	2.405e-05	0	0.0002	0.0006	0	0	0	0.0004	0	0.0060	0.003	0.68238	D	0.005	0.74150	D	0.309	0.32767	B	0.073	0.28123	B	0.000021	0.62929	D	0.155814	0.999603	0.47795	D	1.39	0.34934	L	1.35	0.34648	T	-2.98	0.62008	D	0.773	0.85132	-1.0759	0.08164	T	0.086	0.33550	T	10	0.010184765	0.00228	T	.	.	.	0.155	0.40530	.	.	0.772936170056	0.77084	0.48792229324740355	0.48712	0.182118499786	0.20472	0.706031322479	0.68017	T	0.078528	0.41666	T	-0.354663	0.04442	T	-0.27822	0.46986	T	0.0907780790626299	0.11311	T	0.964804	0.86967	D	0.34816617	0.56924	0.429917	0.66658	0.34816617	0.56924	0.429917	0.66658	-9.023	0.67845	D	.	.	0.344	0.56895	A	.;.	.;.	3.750474	0.53753	23.4	0.99210097136932018	0.55563	0.99011	0.89930	D	AEFI	0.893892	0.83230	D	0.270854384079616	0.54676	3.63277	0.441030590198428	0.64141	4.66282	0.999957846323922	0.48110	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.895000	0.73253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.641	0.84955	128	0.94857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1149.83	37	chr17	56457268	.	T	C	1149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.355;DP=259;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-1.332;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1354:.	5	0	1	0
chr17	56466464	56466464	T	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon14:c.T1675G:p.F559V,ANKFN1:NM_001365758:exon15:c.T1462G:p.F488V,ANKFN1:NM_001370326:exon15:c.T1666G:p.F556V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00780813184887	0.0005	0.00179712	0.0014	0.0002	0.0003	0	0	0.0004	0	0.0083	0.0012031	186	154602	rs145526038	0.0009	0.0009	0.0006	0.0012	0.0087	0.0008	0.0008	0.0082	0.0080	2.987e-05	0.0002	0	0	1.872e-05	0.0017	0.0004	0.0010	0.0087	0.0005	0.0005	0.0004	0.0007	0.0091	0.0004	0.0004	0.0070	0.0062	7.217e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0091	1.0	0.00964	T	0.294	0.20745	T	0.013	0.16609	B	0.008	0.13708	B	0.000002	0.62929	D	0.102768	0.999795	0.49177	D	1.32	0.33002	L	2.13	0.26885	T	0.28	0.04233	N	0.405	0.54757	-1.0597	0.11830	T	0.050	0.21261	T	10	0.0090583265	0.00205	T	0.007808	0.20720	T	0.104	0.29647	.	.	0.697657426632	0.69504	0.3863588621963704	0.38550	0.187923718874	0.21122	0.629788041115	0.57115	T	9.9E-4	0.04761	T	-0.486638	0.00678	T	-0.466249	0.25921	T	0.0276417951501543	0.01636	T	0.814619	0.46840	T	0.26043668	0.49100	0.23420899	0.48632	0.26043668	0.49100	0.23420899	0.48631	-10.778	0.78426	D	.	.	0.192	0.41125	B	.;.	.;.	4.066932	0.60390	24.2	0.28089865596662322	0.01426	0.92352	0.55513	D	AEFBI	0.443794	0.50095	N	-0.10873140571671	0.37013	2.147316	0.0883795158569147	0.43961	2.687288	7.23165679038613E-4	0.07704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	4.741000	0.61790	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.954	0.79654	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	601.83	34	chr17	56466464	.	T	G	601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.415;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.81;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1401	5	0	1	0
chr17	57839817	57839817	G	C	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon5:c.C539G:p.P180R	.	426	1095	1	0	0	1	0.000456413	.	.	.	2337068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0039582226563	.	.	0.0002	0	0.0004	0.0001	0	0.0002	0.0011	0.0004	0.0001876	29	154602	rs775090743	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0008	0.0002	0	0	0.0016	8.184e-05	0.0003	0.0003	9.199e-05	9.194e-05	7.707e-05	0.0001	0.0004	5.527e-05	4.365e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	0.0001	0	0	0.304	0.14303	T	0.714	0.05452	T	0.112	0.26290	B	0.039	0.23607	B	0.536883	0.05290	N	1.239090	1	0.08975	N	1.59	0.40313	L	.	.	.	-0.77	0.21429	N	0.12	0.11054	-0.9990	0.30199	T	0.084	0.32729	T	9	0.03813505	0.02212	T	0.003958	0.09368	T	0.067	0.19503	0.098	0.01383	0.15556083564	0.15200	0.2853159349349469	0.28444	0.245618253609	0.27089	0.230621412396	0.02014	T	0.022154	0.17132	T	-0.492827	0.00627	T	-0.578096	0.14715	T	0.0239572918254104	0.01139	T	0.325967	0.06723	T	0.029948242	0.02575	0.03758274	0.03441	0.029948242	0.02574	0.03758274	0.03440	-4.403	0.29598	T	.	.	0.072	0.04436	B	.	.	2.005854	0.25488	16.78	0.43697319157163672	0.03308	0.14861	0.18623	N	AEFBI	0.054443	0.09900	N	-0.745566945080117	0.14755	0.7376541	-0.714269617065893	0.16606	0.8792429	0.602096846665568	0.21734	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	3.83	0.43287	1.612000	0.36501	1.850000	0.29250	0.676000	0.76740	0.006000	0.17386	0.010000	0.20010	0.017000	0.10941	0.0:0.0:0.6649:0.3351	11.589	0.50193	132	0.94697	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1005.83	36	chr17	57839817	.	G	C	1005.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.891;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.219;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1327:.	5	0	1	0
chr17	58193064	58193064	G	A	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon2:c.G103A:p.V35I	.	0	1521	1	0	0	1	0.000328623	.	.	.	727309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.160	.	0.0035	0.00559105	0.0014	0.0149	0.0009	0	0	2.998e-05	0.0022	0	0.0014165	219	154602	rs34553736	0.0004	0.0004	0.0005	0.0004	0.0144	0.0004	0.0004	0.0134	0.0129	0.0144	0.0012	0	0	0	0.0014	2.7e-05	0.0010	2.319e-05	0.0042	0.0043	0.0045	0.0040	0.0147	0.0040	0.0039	0.0138	0.0134	0.0147	0	0.0018	0	0	0	0	2.941e-05	0.0019	0	0.593	0.05755	T	0.445	0.13140	T	0.038	0.21002	B	0.028	0.21332	B	0.005922	0.32398	N	0.270424	0.999999	0.08975	N	2.6	0.76081	M	-0.52	0.70717	T	0.0	0.07008	N	0.123	0.11483	-0.9029	0.47684	T	0.167	0.50632	T	10	0.006103128	0.00137	T	.	.	.	0.160	0.41473	.	.	0.564798353577	0.56142	0.17792938064800043	0.17711	0.0995797824663	0.11238	0.413764446974	0.26977	T	0.250352	0.62044	T	-0.532132	0.00373	T	-0.524174	0.19872	T	0.0267989664934107	0.01516	T	0.49985	0.15613	T	0.031234141	0.02925	0.041282546	0.04657	0.033501204	0.03582	0.050299145	0.07864	-4.748	0.33979	T	.	.	0.077	0.06571	B	.	.	1.423896	0.18411	13.72	0.96539390684376492	0.30183	0.19916	0.20845	N	AEFDBI	0.087575	0.17757	N	-0.437832692772024	0.24155	1.30225	-0.393477813368936	0.25190	1.383843	0.0403374814677757	0.14435	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	5.13	0.69729	2.208000	0.42436	3.155000	0.36543	-0.117000	0.14459	0.076000	0.22236	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	14.496	0.67272	542	0.72843	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1356.83	86	chr17	58193064	.	G	A	1356.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.12;DP=260;ExcessHet=0;FS=4.292;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.213;SOR=1.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1307:.	5	0	1	0
chr17	58194081	58194081	C	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon5:c.C583T:p.L195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0344463062991	.	.	5.121e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs748539431	3.491e-05	3.489e-05	2.451e-05	4.54e-05	0.0005	2.698e-05	2.439e-05	0.0004	0.0003	0.0001	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0005	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0.0002	0.088	0.32296	T	0.215	0.26306	T	0.459	0.36338	P	0.206	0.37138	B	0.259206	0.15349	N	0.648418	0.936018	0.26928	N	1.2	0.30300	L	-0.45	0.69896	T	-1.67	0.39887	N	0.248	0.28028	-0.7773	0.56453	T	0.208	0.56730	T	10	0.13738492	0.26134	T	0.034446	0.55682	D	0.166	0.42578	0.518	0.61915	0.693749728912	0.69111	0.5778485667093559	0.57713	0.218286694533	0.24365	0.287608653307	0.08575	T	0.30312	0.67549	T	-0.37459	0.03368	T	-0.453883	0.27268	T	0.0331017412245274	0.02488	T	0.516848	0.16688	T	0.1456051	0.33369	0.14158	0.33711	0.1456051	0.33368	0.14158	0.33710	-6.551	0.50678	T	0.18341385258524592	0.23742	0.087	0.11124	B	.	.	1.330388	0.17353	13.11	0.99468514105000461	0.66207	0.36459	0.25538	N	AEFDBHCI	0.235761	0.35831	N	-0.308683225522208	0.28818	1.592693	-0.319290344272944	0.27476	1.524877	0.0947544236299747	0.16212	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	3.97	2.9	0.32809	-0.099000	0.10976	-0.123000	0.11700	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.698000	0.34080	0.1912:0.8088:0.0:0.0	10.685	0.45033	546	0.72524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	862.83	35	chr17	58194081	.	C	T	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.342;DP=202;ExcessHet=0;FS=6.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.07;ReadPosRankSum=0.427;SOR=0.144	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.08333	886.83	33	chr17	58203086	.	A	T	886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=218;ExcessHet=0;FS=2.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.05;SOR=0.364	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1179	5	0	1	0
chr17	58203219	58203219	T	A	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.T1847A:p.I616N	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.2197653025	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs764184479	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	6.623e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.858	0.47274	P	0.664	0.52930	P	0.015126	0.28333	N	0.413456	0.966004	0.38503	D	2.725	0.79712	M	-0.4	0.69287	T	-5.46	0.85541	D	0.751	0.75009	0.073	0.83673	D	0.453	0.78621	T	10	0.86360925	0.85593	D	0.219765	0.87724	D	0.462	0.75889	0.629	0.76478	0.897708724811	0.89669	0.8878465195073726	0.88753	0.639877117269	0.57640	0.37930482626	0.22159	T	0.689751	0.90968	D	-0.126429	0.32076	T	-0.159704	0.58380	T	0.734210237653779	0.42429	D	0.979902	0.93196	D	0.9218671	0.93429	0.88543	0.93944	0.9218671	0.93430	0.88543	0.93944	-8.411	0.63838	D	0.5979874735306194	0.66492	0.611	0.69337	P	.	.	4.109798	0.61346	24.3	0.993720318690546	0.61498	0.99225	0.93076	D	AEFDI	0.773823	0.70772	D	0.714204829456195	0.80561	7.322092	0.70732628435957	0.82934	7.891901	0.999996087324262	0.74766	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	5.138000	0.64636	3.459000	0.38500	0.665000	0.62972	0.835000	0.30208	0.531000	0.25362	0.996000	0.76049	0.0:0.0:0.0:1.0	14.400	0.66609	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	466.83	33	chr17	58203219	.	T	A	466.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=229;ExcessHet=0;FS=4.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.036;SOR=1.431	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1179	5	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	220.57	67	chr17	59737489	.	A	C	220.57	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.594;DP=346;ExcessHet=1.383;FS=296.711;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.115;SOR=8.189	GT:AD:DP:GQ:PL	0/1:48,18:66:99:108,0,718	1	0	3	2
chr17	60043829	60043829	T	C	exonic	HEATR6	.	nonsynonymous SNV	HEATR6:NM_022070:exon20:c.A3280G:p.T1094A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0129848162425	0.0003	0.000798722	0.0002	0.0024	0	0	0	0	0.0011	0	0.000194	30	154602	rs75491486	6.909e-05	6.909e-05	7.487e-05	6.325e-05	0.0025	5.779e-05	5.391e-05	0.0021	0.0019	0.0025	0	0	0	0	0.0005	4.496e-06	0.0001	2.319e-05	0.0006	0.0006	0.0007	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0	0	0	0	0	0	0.0009	0	0.282	0.15406	T	0.053	0.47581	T	0.001	0.07471	B	0.001	0.04355	B	0.000403	0.44736	N	0.231906	1	0.08975	N	1.345	0.33447	L	0.01	0.62459	T	-0.13	0.08971	N	0.061	0.08786	-1.0485	0.14818	T	0.109	0.39415	T	10	0.029471815	0.01073	T	0.012985	0.32017	T	0.066	0.19193	.	.	0.372446077551	0.36852	0.09104773142450638	0.09037	0.122807379504	0.13838	0.293182790279	0.09387	T	0.015295	0.12856	T	-0.529143	0.00388	T	-0.538092	0.18484	T	0.010306998031235	0.00140	T	0.594141	0.21965	T	0.024066893	0.01203	0.02626642	0.00707	0.024066893	0.01203	0.02626642	0.00707	-3.61	0.18002	T	.	.	0.071	0.17402	B	.;.;.	.;.;.	0.388816	0.07604	4.265	0.73304518002819441	0.10280	0.41622	0.26698	N	AEFBI	0.114164	0.22497	N	-0.9202085993284	0.10370	0.4952169	-0.92199835690562	0.11575	0.5905472	7.46138893515814E-5	0.04552	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.15	0.787	0.17740	0.793000	0.26604	0.075000	0.14313	0.663000	0.56723	0.444000	0.26519	0.456000	0.24978	0.044000	0.14658	0.1374:0.1862:0.0:0.6764	4.721	0.12298	164	0.93620	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1809.83	107	chr17	60043829	.	T	C	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=275;ExcessHet=0;FS=9.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=1.76;SOR=1.268	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	5	0	1	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	0.008294	0.000000	0.008264	0.000000	0.000000	0.008772	0.011538	0.008264	0.08333	461.83	34	chr17	60183298	.	A	C	461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.01;DP=240;ExcessHet=0;FS=2.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=1.09;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	5	0	1	0
chr17	61015775	61015775	A	G	exonic	BCAS3	.	nonsynonymous SNV	BCAS3:NM_001099432:exon16:c.A1511G:p.Y504C,BCAS3:NM_001320470:exon16:c.A1511G:p.Y504C,BCAS3:NM_001330413:exon16:c.A1511G:p.Y504C,BCAS3:NM_001330414:exon16:c.A1511G:p.Y504C,BCAS3:NM_001353146:exon16:c.A1511G:p.Y504C,BCAS3:NM_017679:exon16:c.A1511G:p.Y504C,BCAS3:NM_001353144:exon17:c.A1601G:p.Y534C,BCAS3:NM_001353145:exon17:c.A1601G:p.Y534C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0279022350648	.	.	1.657e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs752333817	8.893e-06	8.893e-06	8.168e-06	9.626e-06	2.988e-05	4.96e-06	3.82e-06	4.55e-06	3.32e-06	2.988e-05	0	0	0	0	0	8.993e-06	0	2.319e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	4.412e-05	8.15e-06	5.15e-06	1.171e-05	6.25e-06	2.416e-05	0	0	0	0	0	0	4.412e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.995	0.67487	D	0.847	0.60522	P	0.000006	0.62929	D	0.065742	0.999904	0.50806	D	0.895	0.22405	L	1.41	0.34452	T	-2.22	0.49846	N	0.859	0.88687	-0.9459	0.41665	T	0.132	0.44347	T	10	0.6426832	0.69148	D	0.027902	0.50651	D	0.210	0.50028	.	.	0.624357547178	0.62130	0.5836763583259523	0.58296	0.961066972073	0.73010	0.869707405567	0.92526	D	0.057333	0.43501	T	0.172021	0.71309	D	0.0248059	0.71942	D	0.753855347633362	0.43501	D	0.981102	0.93484	D	0.20967126	0.43242	0.26203167	0.51989	0.20967126	0.43242	0.26203167	0.51988	-3.871	0.27570	T	.	.	0.070	0.03625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.588974	0.72566	25.8	0.9975380830314784	0.84460	0.96459	0.69244	D	AEFGBI	0.878507	0.80382	D	0.545489561976971	0.69808	5.409897	0.600303979536694	0.74962	6.227231	0.999996884983001	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.59	5.59	0.84677	6.767000	0.74770	8.072000	0.76444	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.774	0.77964	379	0.83778	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1083.83	35	chr17	61015775	.	A	G	1083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.074;SOR=0.69	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1094,0,1562	5	0	1	0
chr17	61590829	61590830	CC	-	exonic	NACA2	.	frameshift deletion	NACA2:NM_199290:exon1:c.351_352del:p.D118Cfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2635.79	129	chr17	61590828	.	TCC	T	2635.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=501;ExcessHet=0;FS=3.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=0.8;SOR=0.441	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1360	5	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	42.79	48	chr17	61968034	.	C	G	42.79	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.909;DP=297;ExcessHet=0;FS=164.3;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.545;SOR=8.38	GT:AD:DP:GQ:PL	0/1:36,18:61:52:52,0,403	4	0	1	1
chr17	62688517	62688517	C	G	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon22:c.C3078G:p.S1026R	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0125372173561	0.0003	0.00199681	0.0014	9.61e-05	8.637e-05	0	0.0008	0.0006	0.0044	0.0075	0.0012678	196	154602	rs141422219	0.0008	0.0008	0.0006	0.0010	0.0066	0.0008	0.0007	0.0062	0.0060	2.987e-05	0.0002	3.826e-05	2.519e-05	0.0005	0.0028	0.0004	0.0009	0.0066	0.0005	0.0005	0.0006	0.0005	0.0062	0.0004	0.0004	0.0045	0.0039	0.0002	0	0.0003	0	0	0.0007	0	0.0005	0	0.0062	0.079	0.33753	T	0.024	0.56640	D	0.119	0.26641	B	0.078	0.28627	B	0.000130	0.49741	D	0.192272	0.819916	0.81001	D	0.4	0.12274	N	2.33	0.16492	T	-0.26	0.11185	N	0.447	0.48504	-1.0031	0.29021	T	0.022	0.09147	T	10	0.011034459	0.00243	T	0.012537	0.31203	T	0.118	0.32913	0.778	0.90312	0.168254554758	0.16434	.	.	0.433256255044	0.43490	0.341824680567	0.16711	T	0.043083	0.26389	T	-0.482191	0.00718	T	-0.462103	0.26371	T	0.0249710851349195	0.01269	T	0.69993	0.30971	T	0.060875803	0.12541	0.084481135	0.19436	0.060875803	0.12541	0.084481135	0.19436	-3.255	0.13164	T	.	.	0.206	0.43200	B	.	.	2.492508	0.32161	18.96	0.98565137425745464	0.43025	0.58258	0.30594	D	AEFDGBI	0.080845	0.16351	N	-0.590178458352782	0.19242	1.00552	-0.466255868333516	0.23089	1.257398	0.0230154234031307	0.13476	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.49	1.15	0.19876	1.793000	0.38397	1.320000	0.25596	-0.326000	0.05813	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.1355:0.2929:0.2957:0.2759	1.180	0.01731	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	2424.83	35	chr17	62688517	.	C	G	2424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=409;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.187;SOR=0.741	GT:AD:DP:GQ:PL	0/1:126,100:226:99:2435,0,3331	5	0	1	0
chr17	63497281	63497281	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon12:c.G1451A:p.R484Q,ACE:NM_001178057:exon13:c.G1991A:p.R664Q,ACE:NM_152830:exon14:c.G2114A:p.R705Q,ACE:NM_001382700:exon22:c.G3269A:p.R1090Q,ACE:NM_001382701:exon23:c.G2984A:p.R995Q,ACE:NM_000789:exon25:c.G3836A:p.R1279Q	Renal tubular dysgenesis, Autosomal recessive	6	1496	20	0	0	20	0.00664011	.	.	.	256313	not_provided|not_specified|Renal_tubular_dysgenesis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0045	0.00359425	0.0057	0.0065	0	0	0.0205	0.0098	0	0.0026	0.0028654	443	154602	rs4980	0.0053	0.0052	0.0053	0.0052	0.0098	0.0052	0.0051	0.0076	0.0068	0.0027	0.0027	0.0008	0	0.0075	0.0098	0.0059	0.0048	0.0022	0.0053	0.0053	0.0053	0.0053	0.0070	0.0050	0.0049	0.0065	0.0063	0.0034	0.0110	0.0048	0.0014	0	0.0072	0.0068	0.0070	0.0052	0.0017	0.083	0.38185	T	0.019	0.59159	D	0.016	0.26429	B	0.002	0.20255	B	0.092294	0.20282	N	0.443891	0.999982	0.25316	N	2.025	0.55430	M	1.27	0.36146	T	-1.38	0.34198	N	0.098	0.17002	-0.9973	0.30673	T	0.059	0.24834	T	10	0.0066785812	0.00151	T	.	.	.	0.051	0.14325	.	.	0.737742724758	0.73540	0.4545690405717535	0.45374	0.107918556532	0.12170	0.437173753977	0.30191	T	0.26096	0.63239	T	-0.471471	0.00832	T	-0.445446	0.28201	T	0.0104603006814307	0.00144	T	0.825917	0.48908	T	0.06927776	0.15163	0.061592437	0.11920	0.0842022	0.19478	0.05142245	0.08271	-5.619	0.42965	T	0.1480238407004571	0.17202	0.109	0.25946	B	.;.;.	.;.;.	2.988242	0.39887	21.1	0.9981584536576239	0.89885	0.36046	0.25443	N	AEFBCI	0.129733	0.24802	N	-0.205389494547449	0.32913	1.861396	-0.138043727829586	0.33871	1.942191	0.00353837507232813	0.10164	0.631515	0.41029	0	0.547309	0.14657	0	0.645312	0.48771	0	0.741806	0.99463	0	.	.	5.0	1.38	0.21262	2.237000	0.42709	4.371000	0.43149	0.674000	0.70861	0.079000	0.22314	0.996000	0.32793	0.995000	0.73285	0.3618:0.0:0.4692:0.169	3.971	0.08946	939	0.14249	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007669	0.000000	0.002740	0.011834	0.000000	0.008929	0.018634	0.011364	0.08333	640.83	57	chr17	63497281	.	G	A	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.23;DP=242;ExcessHet=0;FS=5.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.935;SOR=1.524	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr17	63533901	63533901	G	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon5:c.G691A:p.A231T,KCNH6:NM_001278920:exon5:c.G322A:p.A108T,KCNH6:NM_030779:exon5:c.G691A:p.A231T,KCNH6:NM_173092:exon5:c.G691A:p.A231T	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.230422214839	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0002	0.0022	0.0002	0.000207	32	154602	rs138130730	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	5.975e-05	8.95e-05	0	0	0	0.0017	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0002	0.0002	9.742e-05	8.257e-05	0.0002	0.0001	0	0	0.0002	0	0	9.414e-05	0	0.0002	0	0.0002	0.024	0.52492	D	0.04	0.50809	D	0.987	0.67487	D	0.66	0.63802	P	0.000007	0.62929	D	0.062977	1	0.81001	D	3.18	0.88827	M	-5.37	0.99036	D	-3.47	0.68298	D	0.832	0.84401	1.090	0.99226	D	0.967	0.98941	D	10	0.7135248	0.73197	D	0.230422	0.88229	D	0.693	0.88867	.	.	0.828213882217	0.82658	0.7254724862580912	0.72491	0.579807686353	0.53841	0.727591216564	0.71154	T	0.427429	0.77691	T	0.16939	0.71067	D	0.301733	0.88276	D	0.384715020656586	0.28364	T	0.942806	0.85427	D	0.3246521	0.55029	0.30176443	0.56209	0.3246521	0.55029	0.30176443	0.56208	-9.568	0.73124	D	.	.	0.591	0.68487	P	.;.;.;.;.	.;.;.;.;.	4.693635	0.75229	26.3	0.71631967723737144	0.09695	0.99694	0.98730	D	AEFDGBI	0.905059	0.85610	D	0.44766811111159	0.64071	4.653564	0.313246722910912	0.56318	3.794907	0.999999914047741	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.9	3.9	0.44240	9.992000	0.99232	11.682000	0.94235	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.0:1.0:0.0	16.419	0.83590	804	0.43891	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	1248.83	81	chr17	63533901	.	G	A	1248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.52;DP=264;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.765;SOR=0.851	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1082	5	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010326	0.000000	0.014986	0.020661	0.000000	0.000000	0.009740	0.011719	0.08333	1417.83	34	chr17	63880586	.	C	T	1417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.403;DP=283;ExcessHet=0;FS=2.738;MLEAC=1;MLEAF=0.083;MQ=59.89;MQRankSum=-0.929;QD=14.62;ReadPosRankSum=-0.3;SOR=1.077	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	5	0	1	0
chr17	63910894	63910894	G	C	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001321068:exon2:c.C41G:p.A14G,CSHL1:NM_001321069:exon2:c.C41G:p.A14G,CSHL1:NM_022579:exon2:c.C41G:p.A14G,CSHL1:NM_022581:exon2:c.C41G:p.A14G	.	0	1509	13	0	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0298011808187	0.0022	0.000599042	0.0027	0.0005	8.654e-05	0.0002	0.0047	0.0040	0.0011	0.0015	0.002445	378	154602	rs145983838	0.0027	0.0027	0.0027	0.0026	0.0029	0.0026	0.0026	0.0028	0.0028	0.0003	0.0006	0.0042	2.519e-05	0.0046	0.0019	0.0029	0.0022	0.0015	0.0022	0.0022	0.0020	0.0025	0.0030	0.0020	0.0019	0.0026	0.0025	0.0003	0.0011	0.0013	0.0043	0	0.0069	0	0.0030	0.0028	0.0010	0.344	0.41096	T	0.176	0.29843	T	0.023	0.18885	B	0.042	0.24114	B	0.435595	0.12693	N	0.738697	0.999999	0.58761	D	1.475	0.37068	L	-1.93	0.89219	D	-1.33	0.37178	N	0.22	0.35301	-0.2088	0.77445	T	0.652	0.87893	D	10	0.026011705	0.00778	T	0.029801	0.52238	D	0.314	0.63588	.	.	0.85422214745	0.85281	0.3335765527536795	0.33270	0.0246387964316	0.02499	0.417541235685	0.27499	T	0.084293	0.37246	T	-0.353255	0.04526	T	-0.282308	0.46568	T	0.00674738225547141	0.00076	T	0.317668	0.21993	T	0.072824754	0.16230	0.06112649	0.11752	0.072824754	0.16230	0.06112649	0.11751	-4.811	0.34720	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	0.519809	0.08885	5.666	0.96060410269634966	0.28591	0.10130	0.15720	N	AEFBI	0.091656	0.18563	N	-0.583521484761633	0.19444	1.017771	-0.708788819744382	0.16741	0.8870846	1.78559420646938E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	2.28	1.23	0.20358	0.112000	0.15312	1.105000	0.24105	0.361000	0.20101	0.026000	0.20160	0.589000	0.25661	0.011000	0.09372	0.0:0.3288:0.6712:0.0	6.520	0.21469	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1290.83	39	chr17	63910894	.	G	C	1290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.029;DP=281;ExcessHet=0;FS=3.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.658;SOR=1.121	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr17	63972380	63972380	G	A	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.C364T:p.R122C	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	345423	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|Paramyotonia_congenita_of_Von_Eulenburg|Congenital_myasthenic_syndrome_16|Congenital_myopathy_22B,_severe_fetal|Congenital_myopathy_22A,_classic|not_provided	MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0957265,MedGen:C5830501,OMIM:620369|MONDO:MONDO:0957247,MedGen:C5830453,OMIM:620351|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.852	0.447953414556	.	0.000399361	6.711e-05	0	0	0	0	7.566e-05	0.0023	6.171e-05	6.47e-05	10	154602	rs150158100	7.252e-05	7.251e-05	7.624e-05	6.877e-05	0.0002	6.115e-05	5.7e-05	7.311e-05	6.722e-05	0	2.236e-05	0	0	0	0.0002	8.724e-05	3.313e-05	5.797e-05	5.91e-05	5.906e-05	2.57e-05	9.401e-05	0.0001	3.076e-05	2.209e-05	5.843e-05	4.24e-05	0	0	0	0	0	9.423e-05	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.91	0.64641	D	0.000353	0.45440	D	0.190420	0.999998	0.58761	D	3.17	0.88688	M	-4.28	0.97126	D	-5.17	0.83489	D	0.92	0.92317	1.054	0.98212	D	0.942	0.98109	D	10	0.9682631	0.96357	D	0.447953	0.94288	D	0.852	0.95433	.	.	0.947777257196	0.94723	0.8282844956908092	0.82786	0.678422557014	0.59885	0.577218294144	0.49694	T	0.876698	0.97382	D	0.323743	0.84735	D	0.41894	0.92713	D	0.830595433712006	0.48576	D	0.90061	0.65471	D	0.38445655	0.59636	0.28344378	0.54337	0.61851066	0.73684	0.33415598	0.59243	-9.712	0.72170	D	0.6619485491797727	0.73558	0.3	0.52985	B	.	.	6.189757	0.94758	34	0.99910239866157713	0.97949	0.90619	0.51945	D	AEFGBCI	0.815902	0.73776	D	0.433816102648008	0.63292	4.560091	0.274029765580511	0.54028	3.569	0.999470477167808	0.39898	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	3.24	0.36257	5.721000	0.68126	3.845000	0.40060	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:0.5026:0.4974	10.365	0.43202	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	2410.83	176	chr17	63972380	.	G	A	2410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.862;DP=379;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.098;SOR=0.568	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	5	0	1	0
chr17	64054353	64054353	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon15:c.G1850A:p.R617Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0357817794653	.	.	7.527e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs778325600	1.164e-05	1.163e-05	1.09e-05	1.24e-05	1.35e-05	7.09e-06	5.8e-06	8.11e-06	6.43e-06	0	0	0	0	1.877e-05	0	1.35e-05	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.11262	T	0.183	0.29153	T	0.527	0.37646	P	0.185	0.36047	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-0.17	0.65563	T	-2.38	0.52451	N	0.76	0.75834	-0.9287	0.44328	T	0.147	0.47183	T	10	0.7214736	0.73691	D	0.035782	0.56573	D	0.324	0.64624	0.542	0.65446	0.892468691898	0.89140	0.48588990889717065	0.48508	0.508620062374	0.49010	0.815683186054	0.84365	D	0.223846	0.58811	T	0.0938303	0.63618	D	0.0779153	0.75439	D	0.250251591205597	0.22884	T	0.925307	0.72522	D	0.8005707	0.83942	0.56902546	0.75048	0.8005707	0.83943	0.56902546	0.75048	-8.103	0.61771	D	.	.	0.303	0.53222	B	.	.	4.904274	0.80630	27.4	0.99449676534873521	0.65223	0.97206	0.73316	D	AEFDGBI	0.700234	0.65732	D	-0.00344444373428399	0.41699	2.498934	0.136210010563403	0.46414	2.88791	0.999999999905143	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.808000	0.68834	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:1.0:0.0:0.0	19.390	0.94567	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	33	chr17	64054353	.	C	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.722;DP=223;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.383;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	5	0	1	0
chr17	67189684	67189684	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon11:c.A769G:p.I257V,HELZ:NM_014877:exon11:c.A769G:p.I257V	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0004	0.000399361	0.0012	0	8.645e-05	0	0.0101	0.0007	0.0011	0.0018	0.0010155	157	154602	rs200311859	0.0007	0.0007	0.0007	0.0008	0.0017	0.0007	0.0007	0.0015	0.0014	3.001e-05	0.0002	0	0	0.0101	0.0017	0.0003	0.0006	0.0017	0.0010	0.0010	0.0006	0.0015	0.0010	0.0009	0.0008	0.0006	0.0006	7.216e-05	0	0.0003	0	0	0.0083	0	0.0008	0.0009	0.0010	0.684	0.04379	T	1.0	0.01155	T	0.007	0.14184	B	0.01	0.14941	B	0.010406	0.29936	N	0.393809	0.790031	0.29236	N	-0.785	0.01646	N	-1.54	0.81727	D	0.16	0.05217	N	0.079	0.05414	-0.8734	0.50272	T	0.117	0.41165	T	10	0.0025992095	0.00040	T	.	.	.	0.030	0.07022	.	.	0.15499578495	0.15088	0.13468853899872957	0.13392	0.537625116665	0.51056	0.225903958082	0.01679	T	0.054353	0.29701	T	-0.478532	0.00754	T	-0.484782	0.23940	T	0.00512657710811857	0.00055	T	0.79842	0.44325	T	0.018344209	0.00355	0.024436295	0.00464	0.017848412	0.00308	0.026508402	0.00743	-2.751	0.07742	T	.	.	0.052	0.00328	B	.;.	.;.	0.934784	0.13100	9.604	0.73766919102189621	0.10448	0.45971	0.27656	N	AEFBI	0.046154	0.07633	N	-0.978408994148129	0.09065	0.4275541	-0.784357432633978	0.14878	0.7797135	0.00240518358675999	0.09398	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.06	-1.54	0.08130	-0.076000	0.11374	-0.062000	0.12412	0.665000	0.62972	0.805000	0.29786	0.829000	0.27196	0.997000	0.79791	0.0:0.3079:0.321:0.371	6.800	0.22931	638	0.64280	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	731.83	34	chr17	67189684	.	T	C	731.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.383;DP=233;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.34;SOR=0.825	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr17	67692697	67692697	A	G	exonic	PITPNC1	.	nonsynonymous SNV	PITPNC1:NM_012417:exon9:c.A808G:p.S270G	.	425	1095	2	0	0	2	0.000912409	.	.	.	3368883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00719003653006	.	.	0.0001	0	0	0	0	1.499e-05	0.0011	0.0007	9.06e-05	14	154602	rs778429473	7.663e-05	7.661e-05	4.493e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0007	0.0007	0	2.236e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0009	3.288e-05	3.284e-05	2.571e-05	4.038e-05	0.0006	1.262e-05	7.98e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	.	.	.	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000014	0.62929	D	0.178401	0.989563	0.81001	D	1.295	0.32453	L	0.73	0.50721	T	.	.	.	0.168	0.17828	-1.0554	0.12934	T	0.068	0.27811	T	10	0.041391283	0.02790	T	0.00719	0.19061	T	.	.	0.201	0.11522	0.151262610727	0.14761	0.4965256506311141	0.49573	0.586081728629	0.54225	0.465904027224	0.34119	T	0.01324	0.11486	T	-0.446194	0.01189	T	-0.486508	0.23758	T	0.121741172166551	0.14599	T	0.792121	0.43364	T	0.10483082	0.24783	0.20736174	0.44991	0.10483082	0.24782	0.20736174	0.44990	-7.869	0.60174	D	.	.	0.063	0.01428	B	.	.	3.334618	0.45925	22.2	0.96320008337444596	0.29410	0.97817	0.77351	D	AEFGBI	0.903217	0.85203	D	-0.179250484696181	0.33999	1.935427	0.035507031932653	0.41375	2.484804	0.942268721866049	0.27514	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.223000	0.77520	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.9277:0.0:0.0723:0.0	10.406	0.43440	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1420.83	34	chr17	67692697	.	A	G	1420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.158;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	5	0	1	0
chr17	67959637	67959645	CCAGCTCCT	-	exonic	BPTF	.	nonframeshift deletion	BPTF:NM_182641:exon24:c.8023_8031del:p.A2682_P2684del,BPTF:NM_004459:exon26:c.7972_7980del:p.A2665_P2667del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466624879	6.054e-06	5.631e-06	6.002e-06	6.106e-06	6.246e-05	2.6e-06	1.88e-06	1.034e-05	3.87e-06	0	0	0	6.246e-05	0	0	5.853e-06	0	0	7.365e-06	7.042e-06	0	1.518e-05	1.612e-05	0	0	.	.	0	0	0	0	0	0	0	1.612e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2237.79	97	chr17	67959636	.	ACCAGCTCCT	A	2237.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=480;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=0.546;SOR=0.685	GT:AD:DP:GQ:PL	0/0:99,0:99:85:0,85,2847	5	0	1	0
chr17	67959642	67959642	T	0	exonic	BPTF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3893.69	69	chr17	67959642	.	T	*	3893.69	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.16;DP=498;ExcessHet=3.1439;FS=1.306;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.199;SOR=0.618	GT:AD:DP:GQ:PL	0/0:29,0:65:99:1339,1429,2646	5	0	1	0
chr17	68042979	68042979	C	T	exonic	KPNA2	.	nonsynonymous SNV	KPNA2:NM_001320611:exon6:c.C646T:p.P216S,KPNA2:NM_002266:exon6:c.C646T:p.P216S	.	434	1064	23	1	0	25	0.0116117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0019	0.00259585	0.0023	0.0004	0.0043	0	0	0.0028	0.0022	0.0021	0.002141	331	154602	rs11545988	0.0022	0.0022	0.0022	0.0022	0.0130	0.0021	0.0021	0.0106	0.0098	0.0005	0.0039	0.0020	0	0.0002	0.0130	0.0023	0.0031	0.0023	0.0021	0.0021	0.0023	0.0020	0.0065	0.0019	0.0019	0.0055	0.0051	0.0006	0	0.0065	0.0012	0	9.526e-05	0.0103	0.0025	0.0043	0.0025	0.004	0.65419	D	0.228	0.25286	T	0.996	0.68779	D	0.92	0.65550	D	0.000000	0.84330	U	0.000000	1	0.81001	D	-0.19	0.04217	N	1.55	0.29866	T	-2.06	0.47175	N	0.415	0.45520	-1.1045	0.03588	T	0.054	0.22808	T	10	0.00942713	0.00213	T	.	.	.	0.241	0.54641	.	.	0.438345833192	0.43453	0.4164503765042135	0.41561	0.656959821407	0.58672	0.709007382393	0.68450	T	0.079362	0.36112	T	-0.292736	0.09364	T	-0.195377	0.55084	T	0.0235959961521107	0.01094	T	0.919808	0.70989	D	0.73496777	0.80005	0.39247233	0.63991	0.73496777	0.80006	0.39247233	0.63991	-7.748	0.59341	D	.	.	0.152	0.33573	B	.;.	.;.	3.499576	0.48958	22.7	0.88555349850242404	0.18069	0.94828	0.62470	D	AEFBCI	0.791339	0.71996	D	0.122141449737088	0.47497	2.974612	0.161611478933004	0.47759	3.001474	0.999999999999885	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.74	4.74	0.59717	5.904000	0.69623	5.974000	0.52050	0.510000	0.23265	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	18.087	0.89390	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.008152	0.008772	0.000000	0.000000	0.000000	0.015152	0.08333	1359.83	108	chr17	68042979	.	C	T	1359.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=317;ExcessHet=0;FS=0.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-1.18;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1339	5	0	1	0
chr17	68271583	68271583	T	C	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon5:c.A577G:p.I193V,SLC16A6:NM_001174166:exon6:c.A577G:p.I193V	.	433	1082	7	0	0	7	0.00322432	.	.	.	2331855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00782871296653	0.0003	0.000399361	0.0004	0.0002	0.0003	0	0	0.0005	0.0033	0.0002	0.0003752	58	154602	rs144470811	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0077	0.0069	0.0004	0.0006	0.0037	0	1.872e-05	0.0097	0.0002	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0007	0.0006	0.0002	0	0.0011	0.0026	0	0	0.0102	0.0003	0.0009	0.0002	0.443	0.09182	T	0.44	0.13912	T	0.011	0.15914	B	0.03	0.21741	B	0.001449	0.38980	N	0.249425	1	0.81001	D	1.64	0.41913	L	0.48	0.55945	T	-0.39	0.13611	N	0.162	0.23380	-1.0731	0.08745	T	0.100	0.37137	T	10	0.013323337	0.00283	T	0.007829	0.20773	T	0.068	0.19811	.	.	0.318828661733	0.31499	0.21961182318223102	0.21877	0.409640644394	0.41775	0.362998306751	0.19822	T	0.07893	0.36007	T	-0.400896	0.02284	T	-0.459602	0.26643	T	0.00784043668749551	0.00092	T	0.691431	0.30091	T	0.059705667	0.12165	0.06626017	0.13548	0.059705667	0.12164	0.06626017	0.13547	-3.793	0.20700	T	.	.	0.083	0.17189	B	.;.;.	.;.;.	1.521896	0.19539	14.31	0.91046540843169699	0.20298	0.93915	0.59560	D	AEFBI	0.381117	0.46350	N	-0.501761219732488	0.22022	1.173049	-0.418705535787528	0.24447	1.338828	4.79146737857058E-5	0.03989	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.33	2.02	0.25641	2.551000	0.45481	3.742000	0.39654	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.529000	0.29684	0.0:0.0852:0.164:0.7508	6.544	0.21594	885	0.28214	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.009511	0.023392	0.000000	0.008621	0.000000	0.007576	0.08333	1278.83	37	chr17	68271583	.	T	C	1278.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.618;SOR=0.773	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr17	68927933	68927933	A	G	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon8:c.T1073C:p.F358S,ABCA8:NM_001288986:exon9:c.T1256C:p.F419S,ABCA8:NM_007168:exon9:c.T1256C:p.F419S,ABCA8:NM_001288985:exon10:c.T1256C:p.F419S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0090	0.0109824	0.0034	0.0369	0.0011	0	0	2.213e-05	0	7.578e-05	0.0025032	387	154602	rs77734018	0.0008	0.0008	0.0009	0.0007	0.0297	0.0008	0.0007	0.0282	0.0276	0.0297	0.0011	0	0	0	0.0017	1.354e-05	0.0017	4.872e-05	0.0079	0.0079	0.0078	0.0080	0.0281	0.0075	0.0073	0.0268	0.0263	0.0281	0	0.0011	0	0	0	0	4.41e-05	0.0028	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.955	0.69585	D	0.001806	0.37945	N	0.118294	0.990608	0.41195	D	3.37	0.91327	M	-2.88	0.91533	D	-7.04	0.94430	D	0.77	0.80767	0.405	0.89164	D	0.697	0.89547	D	10	0.007897347	0.00179	T	.	.	.	0.633	0.85924	.	.	0.939307417577	0.93868	0.6238119418720228	0.62314	0.452373610566	0.44962	0.410543054342	0.26532	T	0.587402	0.86582	D	-0.165984	0.25843	T	0.010429	0.71010	D	0.0499421364926783	0.05490	T	0.928407	0.76011	D	0.871901	0.89012	0.8440341	0.91105	0.871901	0.89014	0.8440341	0.91106	-11.228	0.80893	D	.	.	0.481	0.63694	A	.;.;.;.	.;.;.;.	4.833015	0.78829	27.0	0.99868377485551552	0.94637	0.98145	0.79986	D	AEFBI	0.878917	0.80449	D	0.862110383646771	0.89786	10.11715	0.768621517182804	0.87541	9.257711	0.191623478200863	0.18007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.93	4.93	0.64394	6.808000	0.74994	9.184000	0.79095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.349	0.54463	921	0.19240	.;.;.;.	.	.	.	.	.	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	0.004536	0.010204	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	418.83	33	chr17	68927933	.	A	G	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.982;DP=194;ExcessHet=0;FS=5.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.072;SOR=0.16	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	5	0	1	0
chr17	73196714	73196714	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon2:c.A523G:p.I175V	Congenital disorder of glycosylation, type IIg	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00936929102444	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1254095334	2.052e-06	2.736e-06	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.267	0.22561	T	0.91	0.50240	P	0.796	0.58006	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.485	0.72352	M	1.85	0.24472	T	-0.37	0.13226	N	0.526	0.55540	-1.0948	0.04781	T	0.105	0.38366	T	10	0.36470896	0.53009	T	0.009369	0.24577	T	0.145	0.38592	0.529	0.63560	0.346768085243	0.34289	.	.	0.47288450683	0.46523	0.480561971664	0.36134	T	0.010829	0.18993	T	-0.146469	0.28866	T	-0.351315	0.39055	T	0.80850875377655	0.46941	D	0.894511	0.63379	D	0.108982295	0.25768	0.10144471	0.24284	0.108982295	0.25767	0.10144471	0.24284	-4.704	0.33453	T	0.3604962406105911	0.45698	0.167	0.36830	B	.;.	.;.	2.794748	0.36749	20.3	0.95240036926513527	0.26482	0.98419	0.82582	D	AEFDBHCIJ	0.807458	0.73150	D	0.486804250337044	0.66317	4.934752	0.54589994000981	0.71112	5.605528	0.999999993447485	0.74766	0.696267	0.57585	0	0.577304	0.33150	0	0.659943	0.59835	0	0.629945	0.49285	0	.	.	5.21	5.21	0.72005	8.405000	0.90096	9.316000	0.80002	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.253	0.73261	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	686.83	34	chr17	73196714	.	A	G	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.644;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-1.024;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	5	0	1	0
chr17	73285963	73285963	C	T	exonic	CDC42EP4	.	nonsynonymous SNV	CDC42EP4:NM_012121:exon2:c.G538A:p.D180N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.013261070492	.	.	8.346e-06	0	0	0	0	1.526e-05	0	0	1.29e-05	2	154602	rs749088950	8.211e-06	8.209e-06	6.808e-06	9.629e-06	0.0002	4.38e-06	3.46e-06	9.24e-06	4.56e-06	2.987e-05	0	3.826e-05	0	0	0.0002	4.497e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.419	0.14158	T	0.943	0.53072	P	0.278	0.40236	B	0.011064	0.29673	N	0.338646	1	0.81001	D	2.42	0.70002	M	1.5	0.31205	T	-0.91	0.24460	N	0.298	0.33687	-1.0775	0.07841	T	0.065	0.26948	T	10	0.19905826	0.35900	T	0.013261	0.32524	T	0.060	0.17295	0.289	0.24921	0.352048277211	0.34822	0.5011215956728986	0.50034	0.50239789988	0.48599	0.517028868198	0.41208	T	0.138456	0.47195	T	-0.375481	0.03325	T	-0.608001	0.12147	T	0.314320594072342	0.25591	T	0.785321	0.42297	T	0.101190284	0.23901	0.081676304	0.18579	0.101190284	0.23901	0.081676304	0.18579	-5.022	0.37078	T	.	.	0.113	0.33913	B	.;.	.;.	3.765562	0.54053	23.4	0.99559713999259136	0.71707	0.92196	0.55159	D	AEFDBCI	.	.	.	-0.0465835721271725	0.39754	2.349589	-0.0968838290856579	0.35519	2.055888	0.999999205818432	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	3.678000	0.54361	5.920000	0.51151	0.549000	0.26987	0.961000	0.33663	1.000000	0.68203	0.056000	0.15673	0.0:1.0:0.0:0.0	17.163	0.86688	487	0.76954	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1157.83	34	chr17	73285963	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=267;ExcessHet=0;FS=4.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.949;SOR=1.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	5	0	1	0
chr17	73350286	73350286	G	A	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon43:c.C5989T:p.R1997W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.0699189937817	7.7e-05	0.000599042	0.0001	0.0001	0	0	0	4.283e-05	0	0.0006	9.06e-05	14	154602	rs369870973	3.703e-05	3.762e-05	3.001e-05	4.413e-05	0.0004	2.901e-05	2.598e-05	0.0003	0.0002	5.981e-05	4.52e-05	0	2.527e-05	1.885e-05	0	1.441e-05	1.66e-05	0.0004	6.965e-05	6.771e-05	4.06e-05	0.0001	0.0016	3.715e-05	2.861e-05	0.0008	0.0005	2.535e-05	0	0	0	0	0	0	3.086e-05	0	0.0016	0.001	0.78490	D	0.006	0.70582	D	0.999	0.77913	D	0.929	0.66367	D	0.000007	0.62929	D	0.064516	0.998451	0.44939	D	2.25	0.63811	M	0.06	0.61798	T	-4.11	0.74980	D	0.905	0.90590	-0.3422	0.73780	T	0.364	0.72476	T	10	0.17569825	0.32515	T	0.069919	0.70862	D	0.453	0.75279	.	.	0.781418895437	0.77940	0.6769703795790101	0.67636	0.902148392747	0.70677	0.851698517799	0.89870	D	0.324425	0.69524	T	0.0518878	0.58586	T	0.181695	0.82094	D	0.829303979873657	0.48476	D	0.970803	0.89535	D	0.29186925	0.52166	0.32077527	0.58030	0.29186925	0.52166	0.32077527	0.58030	-12.697	0.88076	D	.	.	0.762	0.85539	P	.;.	.;.	3.746260	0.53668	23.4	0.99902146912669998	0.97350	0.88287	0.48147	D	AEFGBI	0.456726	0.50847	N	0.216293320002022	0.51989	3.376035	0.0916424926496255	0.44126	2.700522	0.980642689323973	0.30160	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.53	1.0	0.18999	2.990000	0.49090	2.054000	0.30360	0.676000	0.76740	0.999000	0.42656	0.963000	0.29397	0.985000	0.61073	0.0:0.0:0.4935:0.5065	14.928	0.70543	486	0.77016	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	769.83	42	chr17	73350286	.	G	A	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.477;DP=250;ExcessHet=0;FS=2.342;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.188;SOR=0.411	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	5	0	1	0
chr17	74237346	74237346	G	A	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_001330453:exon4:c.G404A:p.R135Q,TTYH2:NM_032646:exon4:c.G467A:p.R156Q	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0107601053783	0.0007	0.000599042	0.0014	9.625e-05	0.0003	0	0.0002	0.0006	0.0033	0.0073	0.0011707	181	154602	rs146838126	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	5.974e-05	0.0004	7.652e-05	0	1.873e-05	0.0047	0.0005	0.0010	0.0070	0.0005	0.0005	0.0004	0.0007	0.0054	0.0004	0.0004	0.0038	0.0032	0.0001	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0005	0.0054	0.443	0.09182	T	0.165	0.33330	T	0.95	0.70673	P	0.595	0.64797	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	2.79	0.11189	T	-0.63	0.18459	N	0.323	0.36884	-1.1804	0.00364	T	0.067	0.27502	T	10	0.015330344	0.00322	T	0.01076	0.27663	T	0.175	0.44197	.	.	0.18274738541	0.17906	0.5602875507672628	0.55955	0.175573129607	0.19762	0.39073485136	0.23773	T	0.038885	0.36818	T	-0.304911	0.08204	T	-0.206894	0.53992	T	0.0681554750203357	0.08390	T	0.943306	0.78595	D	0.21390936	0.43783	0.2031201	0.44373	0.21390936	0.43783	0.2031201	0.44372	-3.629	0.18277	T	.	.	0.091	0.15296	B	.;.	.;.	4.211319	0.63621	24.6	0.99942855451748114	0.99848	0.97006	0.72147	D	AEFDGI	0.746015	0.68852	D	0.580847877510304	0.71982	5.734214	0.61186407467257	0.75802	6.37513	0.999999999373119	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.620846	0.47308	0	.	.	5.52	5.52	0.82153	5.273000	0.65375	7.113000	0.57572	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.061	0.93075	738	0.53389	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.003788	0.08333	810.83	61	chr17	74237346	.	G	A	810.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.7;DP=315;ExcessHet=0;FS=1.791;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.58;SOR=0.516	GT:AD:DP:GQ:PL	0/1:49,34:83:99:821,0,1229	5	0	1	0
chr17	74285146	74285146	G	A	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon3:c.G290A:p.R97Q,DNAI2:NM_001353167:exon3:c.G290A:p.R97Q,DNAI2:NM_023036:exon3:c.G290A:p.R97Q	Ciliary dyskinesia, primary, 9, with or without situs inversus	0	1518	4	0	0	4	0.00131579	.	.	.	684710	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.313	0.029677756313	.	.	0.0003	0	0	0.0007	0.0002	3.004e-05	0	0.0016	0.0002264	35	154602	rs775926673	0.0001	0.0001	5.581e-05	0.0002	0.0013	9.401e-05	8.883e-05	0.0011	0.0010	2.987e-05	0	0	0.0002	3.744e-05	0	2.878e-05	4.967e-05	0.0013	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0004	1.261e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0004	0.004	0.65419	D	0.01	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	2.39	0.15724	T	-3.58	0.69118	D	0.813	0.80964	-0.6818	0.61289	T	0.174	0.51753	T	10	0.3864728	0.54577	T	0.029678	0.52141	D	0.313	0.63482	0.602	0.73346	0.517983797298	0.51440	0.5633897103877089	0.56265	0.814850030614	0.66894	0.710577249527	0.68677	T	0.227304	0.60277	T	-0.219048	0.18123	T	-0.122802	0.61571	T	0.666693925857544	0.39191	D	0.989376	0.96919	D	0.65104985	0.75421	0.61686337	0.77693	0.6939333	0.77726	0.604507	0.77013	-10.198	0.75088	D	0.6659198076423409	0.74016	0.226	0.45738	B	.;.;.;.	.;.;.;.	5.758646	0.93419	33	0.99959695469995014	0.99994	0.82016	0.41311	D	AEFDBCI	0.877881	0.80279	D	0.922245121649265	0.92806	11.64016	0.852220379598325	0.93146	11.85277	0.999999999998725	0.74766	0.455138	0.09556	0	0.518115	0.08659	0	0.606884	0.38211	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	7.404000	0.79226	11.540000	0.93128	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.696	0.91562	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1893.83	133	chr17	74285146	.	G	A	1893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=305;ExcessHet=0;FS=1.367;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.016;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	5	0	1	0
chr17	74850679	74850679	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon5:c.G1202A:p.R401Q,GRIN2C:NM_001278553:exon5:c.G1202A:p.R401Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	743522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.157	.	0.0078	0.00599042	0.0023	0.0261	0.0003	0	0	3.058e-05	0	0	0.0020698	320	154602	rs149632379	0.0007	0.0007	0.0008	0.0007	0.0283	0.0007	0.0007	0.0268	0.0262	0.0283	0.0005	0	0	1.889e-05	0.0002	4.497e-05	0.0012	1.159e-05	0.0074	0.0074	0.0076	0.0072	0.0259	0.0070	0.0069	0.0246	0.0241	0.0259	0	0.0020	0	0	0	0	0.0001	0.0052	0	0.29	0.55530	T	0.38	0.15988	T	0.446	0.35981	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	0.999887	0.50402	D	1.05	0.26816	L	0.68	0.51952	T	-0.87	0.68651	N	0.758	0.75650	-1.0655	0.10432	T	0.050	0.21222	T	10	0.010454416	0.00233	T	.	.	.	0.157	0.40909	.	.	0.789252435314	0.78729	0.8576185755611014	0.85724	0.707628307958	0.61502	0.67750877142	0.63911	T	0.15822	0.50115	T	-0.338714	0.05477	T	-0.239043	0.50893	T	0.0116936453982894	0.00179	T	0.838216	0.51127	T	0.36454564	0.58179	0.3265242	0.58558	0.36454564	0.58179	0.3265242	0.58558	-3.999	0.23789	T	.	.	0.082	0.16010	B	.;.	.;.	4.712915	0.75728	26.4	0.9918945174605478	0.54935	0.99236	0.93238	D	AEFDGBI	0.716995	0.66865	D	-0.0220965186881591	0.40856	2.433597	0.0834038513403977	0.43714	2.667494	0.999999980095956	0.74766	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.38	4.38	0.52019	4.916000	0.63061	4.733000	0.44564	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	17.101	0.86524	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1531.83	41	chr17	74850679	.	C	T	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.296;DP=335;ExcessHet=0;FS=6.24;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.067;SOR=0.845	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1477	5	0	1	0
chr17	74863219	74863219	C	T	exonic	FDXR	.	nonsynonymous SNV	FDXR:NM_001258015:exon10:c.G1082A:p.R361K,FDXR:NM_001258016:exon10:c.G1046A:p.R349K,FDXR:NM_001258012:exon11:c.G1331A:p.R444K,FDXR:NM_001258014:exon11:c.G1178A:p.R393K,FDXR:NM_004110:exon11:c.G1220A:p.R407K,FDXR:NM_024417:exon11:c.G1202A:p.R401K,FDXR:NM_001258013:exon12:c.G1295A:p.R432K	.	421	1099	2	0	0	2	0.000909091	.	.	.	797599	not_provided|FDXR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0327805224306	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs146539535	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	0	2.241e-05	0	0	0	0.0009	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	8.069e-05	0.0004	7.09e-05	5.747e-05	0.0001	9.896e-05	0	0	6.543e-05	0	0	0	0	0.0002	0	0.0004	0.252	0.33091	T	0.05	0.52389	T	.	.	.	.	.	.	0.000037	0.55875	D	0.152104	0.994582	0.81001	D	.	.	.	1.93	0.22881	T	-1.68	0.41239	N	0.489	0.54671	-0.9662	0.37974	T	0.099	0.36805	T	10	0.27513862	0.45070	T	0.032781	0.54511	D	0.166	0.42578	.	.	0.461495907335	0.45776	0.7382766013075928	0.73772	0.37776733009	0.39206	0.572399616241	0.49017	T	0.066282	0.40969	T	-0.298055	0.08844	T	-0.401483	0.33211	T	0.246214953575847	0.22702	T	0.952005	0.83854	D	.	.	.	.	.	.	.	.	-9.482	0.70747	D	.	.	0.224	0.53944	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.432388	0.47710	22.5	0.97418946402691553	0.33865	0.82274	0.41526	D	AEFDGBCI	0.619383	0.60483	D	-0.181145692853616	0.33919	1.930004	-0.156202360282524	0.33172	1.89468	0.998463286235817	0.37014	0.634777	0.41761	0	0.606735	0.50208	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.88	1.6	0.22686	4.791000	0.62154	1.876000	0.29420	-0.214000	0.08267	1.000000	0.71638	0.948000	0.28948	0.954000	0.50415	0.1388:0.5934:0.2678:0.0	10.761	0.45463	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	692.83	40	chr17	74863219	.	C	T	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.429;DP=231;ExcessHet=0;FS=1.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=1.42;SOR=1.051	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chr17	74881163	74881163	C	T	exonic	FADS6	.	nonsynonymous SNV	FADS6:NM_178128:exon4:c.G685A:p.V229M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0155922668851	.	0.000199681	1.969e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs545669904	8.215e-06	8.209e-06	6.811e-06	9.635e-06	5.041e-05	4.38e-06	3.46e-06	8.35e-06	3.12e-06	0	2.242e-05	0	5.041e-05	0	0	4.498e-06	4.975e-05	1.162e-05	6.568e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000110	0.50451	D	0.133539	0.548316	0.31355	N	.	.	.	2.19	0.18724	T	.	.	.	0.182	0.24883	-1.0050	0.28457	T	0.044	0.19070	T	10	0.07244393	0.10815	T	0.015592	0.36407	T	.	.	.	.	0.202086224978	0.19791	.	.	.	.	0.442641526461	0.30939	T	.	.	.	-0.375297	0.03334	T	-0.594718	0.13259	T	0.374731570482254	0.27980	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32969	B	.;.;.	.;.;.	1.407918	0.18227	13.62	0.9847918921350437	0.41954	0.20539	0.21078	N	AEFDBI	0.108585	0.21597	N	-0.751851639488302	0.14583	0.727643	-0.837380234609658	0.13591	0.7058842	0.0263347003022002	0.13706	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.08	2.03	0.25714	0.604000	0.23862	0.717000	0.20982	-1.890000	0.00534	0.086000	0.22486	0.179000	0.23406	0.779000	0.36868	0.0:0.5801:0.1337:0.2862	5.498	0.16106	893	0.26510	Fatty acid desaturase domain;Fatty acid desaturase domain;Fatty acid desaturase 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	.	.	.	.	.	.	.	.	0.08333	898.83	34	chr17	74881163	.	C	T	898.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.375;DP=237;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.514;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1138	5	0	1	0
chr17	74931085	74931085	C	T	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1450T:p.P484S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00751464351678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210880166	2.052e-06	2.052e-06	0	4.126e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.425	0.13912	T	0.57	0.38545	P	0.133	0.33073	B	0.495406	0.12010	N	0.765925	0.620569	0.32701	D	1.12	0.28775	L	3.01	0.09075	T	0.15	0.05310	N	0.089	0.07262	-1.0394	0.17495	T	0.014	0.05417	T	10	0.084610164	0.14200	T	0.007515	0.19926	T	0.082	0.23913	0.382	0.39970	0.0611884634855	0.05136	0.3528539628892104	0.35199	0.188836824056	0.21202	0.382409214973	0.22598	T	0.005991	0.05431	T	-0.388954	0.02732	T	-0.695852	0.06055	T	0.0713237078918236	0.08835	T	0.423358	0.11306	T	0.02680129	0.01785	0.05504888	0.09583	0.02680129	0.01784	0.05504888	0.09582	-3.188	0.12334	T	.	.	0.081	0.08272	B	.;.	.;.	1.268098	0.16667	12.69	0.48984956677338404	0.04133	0.79884	0.39675	D	AEFBI	0.234497	0.35725	N	-0.822414885101916	0.12739	0.6228641	-0.778821866394629	0.15014	0.7875259	0.999288450485403	0.39007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.96	2.98	0.33575	1.647000	0.36876	2.622000	0.33640	-0.175000	0.10903	0.648000	0.28154	0.288000	0.24148	0.005000	0.06747	0.0:0.8526:0.0:0.1474	11.429	0.49275	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1170.83	37	chr17	74931085	.	C	T	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.173;DP=243;ExcessHet=0;FS=2.899;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-0.141;SOR=0.345	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr17	75039210	75039210	T	A	exonic	ATP5PD	.	nonsynonymous SNV	ATP5PD:NM_001003785:exon4:c.A281T:p.E94V,ATP5PD:NM_006356:exon5:c.A353T:p.E118V	.	.	.	.	.	.	.	.	0.3134	0.54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0159139481511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.036	0.79402	D	0.005	0.38185	B	0.05	0.47925	B	0.336296	0.14033	N	0.737829	1	0.81001	D	3.12	0.87914	M	.	.	.	-4.83	0.82830	D	0.302	0.34659	-0.5361	0.67311	T	0.318	0.68770	T	9	0.22058523	0.38760	T	0.015914	0.36899	T	0.190	0.46781	0.578	0.70347	0.383256108077	0.37933	0.7238800313748233	0.72332	0.265866858698	0.29137	0.312427461147	0.12274	T	0.316113	0.68767	T	0.0323806	0.56039	T	-0.191264	0.55472	T	0.963462293148041	0.66667	D	0.611339	0.23205	T	0.26500762	0.49569	0.25265247	0.50899	0.26500762	0.49569	0.25265247	0.50898	-3.073	0.10988	T	.	.	0.263	0.52491	B	.;.	.;.	3.613885	0.51109	23.0	0.98202438244165657	0.39132	0.98666	0.85331	D	AEFBI	0.691444	0.65144	D	0.0644923901244722	0.44810	2.748472	0.0963051101645688	0.44362	2.719468	0.0117522302564591	0.12231	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	3.5	0.39181	4.330000	0.59052	4.813000	0.45056	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.1315:0.0714:0.0:0.7971	7.184	0.24965	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1192.83	34	chr17	75039210	.	T	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.58;DP=270;ExcessHet=0;FS=10.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.608;SOR=0.455	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1213	5	0	1	0
chr17	75128851	75128851	C	T	exonic	ARMC7	.	nonsynonymous SNV	ARMC7:NM_024585:exon3:c.C410T:p.T137I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.041585668055	.	.	0.0001	0	0.0002	0	0	0.0002	0	6.103e-05	0.0001164	18	154602	rs199560912	8.764e-05	8.756e-05	8.311e-05	9.221e-05	0.0005	7.494e-05	7.041e-05	0.0001	7.541e-05	0	6.709e-05	0	0	1.916e-05	0.0005	9.353e-05	9.939e-05	0.0001	4.599e-05	4.596e-05	7.705e-05	1.345e-05	8.82e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	9.413e-05	0	8.82e-05	0	0	0.46	0.08736	T	0.478	0.11968	T	0.908	0.50127	P	0.521	0.48239	P	0.000002	0.62929	D	0.058820	1	0.81001	D	2.465	0.71551	M	0.84	0.47477	T	-1.41	0.34795	N	0.545	0.57177	-0.9054	0.47401	T	0.161	0.49631	T	10	0.60611016	0.67184	D	0.041586	0.60008	D	0.183	0.45592	0.433	0.48336	0.624520489576	0.62146	0.20957209181985956	0.20873	0.521094934995	0.49893	0.561733484268	0.47513	T	0.105341	0.41572	T	-0.158492	0.26992	T	-0.196139	0.55012	T	0.11540747383739	0.13976	T	0.659134	0.26825	T	0.070088185	0.15409	0.09403833	0.22242	0.070088185	0.15409	0.09403833	0.22241	-5.483	0.41709	T	.	.	0.196	0.41768	B	.	.	1.544616	0.19804	14.44	0.86678859750502213	0.16699	0.94320	0.60790	D	AEFDBHCI	0.568065	0.57340	D	0.131341338440722	0.47929	3.011867	0.0909122318460533	0.44090	2.697543	0.999999999797541	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.12	4.12	0.47504	3.301000	0.51549	0.530000	0.19240	-0.175000	0.10903	0.995000	0.38783	0.068000	0.22166	0.016000	0.10718	0.0:0.8623:0.1377:0.0	15.660	0.76929	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	595.83	54	chr17	75128851	.	C	T	595.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.146;DP=233;ExcessHet=0;FS=7.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.208;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	5	0	1	0
chr17	75613752	75613752	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon28:c.C5080A:p.L1694M	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	0.0134	0.0217	0	0.0051	0	0	0	0.0199	0.0017723	274	154602	rs139523993	0.0031	0.0028	0.0023	0.0037	0.0201	0.0030	0.0029	0.0183	0.0176	0.0201	0.0015	0	0.0009	0	0.0015	0.0004	0.0032	0.0170	0.0064	0.0064	0.0063	0.0065	0.0197	0.0061	0.0059	0.0180	0.0176	0.0191	0	0.0028	0	0.0033	0	0	0.0003	0.0033	0.0197	.	.	.	0.066	0.54541	T	0.93	0.51791	P	0.365	0.43339	B	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.309	0.34874	.	.	.	.	.	.	.	0.0048088133	0.00102	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02609	0.19376	T	.	.	.	.	.	.	.	.	.	0.735926	0.36642	T	0.07234507	0.16086	0.16689095	0.38532	0.07234507	0.16085	0.16689095	0.38531	-8.746	0.66047	D	.	.	0.189	0.40666	B	.;.;.	.;.;.	0.612993	0.09813	6.579	0.87455459359359344	0.17240	0.18351	0.20225	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999528953865247	0.40175	0.262962	0.04601	0	0.304816	0.05638	0	0.117705	0.03188	2	0.24566	0.04862	0	0.206682	0.30772	5.42	-6.25	0.01863	-0.483000	0.06616	-2.720000	0.03431	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.831000	0.39176	0.092:0.1001:0.0:0.8079	12.267	0.54000	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	.	.	.	.	.	.	.	.	0.08333	997.83	34	chr17	75613752	.	C	A	997.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.744;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.589;SOR=0.608	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1372	5	0	1	0
chr17	75626100	75626100	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon62:c.C8971T:p.R2991C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000798722	0.0008	0.0018	0	0	0.0023	0.0016	0	0.0001	0.0005239	81	154602	rs75081344	0.0026	0.0023	0.0028	0.0025	0.0038	0.0025	0.0025	0.0036	0.0035	0.0005	0.0004	0.0007	0	0.0035	0.0027	0.0038	0.0025	0.0003	0.0022	0.0022	0.0020	0.0023	0.0035	0.0020	0.0019	0.0032	0.0030	0.0009	0	0.0007	0.0003	0	0.0030	0.0102	0.0035	0.0033	0.0002	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.299	0.33796	-0.6758	0.61566	T	0.408	0.75706	T	8	0.004975587	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030608	0.21659	T	.	.	.	.	.	.	.	.	.	0.605339	0.22845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.;.	.;.	1.540784	0.19760	14.42	0.73641456201959177	0.10402	0.00049	0.00384	N	ALL	.	.	.	-1.1626882262665	0.05574	0.2544628	-1.19380420959418	0.06012	0.2881587	0.999999978956456	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.440796	0.06475	0	0.683535	0.66460	0	0.10771	0.23274	5.09	1.56	0.22423	0.165000	0.16380	0.873000	0.22330	-0.972000	0.01937	0.000000	0.06391	0.640000	0.25910	0.001000	0.02609	0.3921:0.1547:0.0:0.4532	3.709	0.07942	976	0.04745	FERM domain;FERM 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	.	.	.	.	.	.	.	.	0.08333	1170.83	34	chr17	75626100	.	C	T	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.765;DP=270;ExcessHet=0;FS=3.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-2.042;SOR=1.154	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1181,0,739	5	0	1	0
chr17	75650701	75650701	-	G	exonic	RECQL5	.	frameshift insertion	RECQL5:NM_001003715:exon9:c.1246dupC:p.H416Pfs*11	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.682e-05	0	0	0	0	1.622e-05	0	0.0001	1.94e-05	3	154602	rs771207358	1.71e-05	1.71e-05	1.361e-05	2.063e-05	0.0010	1.174e-05	9.92e-06	0.0005	0.0003	0	4.475e-05	3.827e-05	0	0	0.0010	7.195e-06	0	9.282e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	3260.03	36	chr17	75650701	.	T	TG	3260.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.506;DP=387;ExcessHet=0.4139;FS=1.012;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.476;SOR=0.771	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1678,0,1983	4	0	2	0
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S,ITGB4:NM_000213:exon27:c.C3296G:p.T1099S,ITGB4:NM_001005731:exon27:c.C3296G:p.T1099S,ITGB4:NM_001321123:exon27:c.C3296G:p.T1099S	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	147.9	77	chr17	75749025	.	C	G	147.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.68;DP=514;ExcessHet=0;FS=64.737;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.54;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:97,0:97:0:.:.:0,0,2102:.	2	0	1	3
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V,ITGB4:NM_000213:exon27:c.A3298G:p.I1100V,ITGB4:NM_001005731:exon27:c.A3298G:p.I1100V,ITGB4:NM_001321123:exon27:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	149.25	77	chr17	75749027	.	A	G	149.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.886;DP=492;ExcessHet=0;FS=64.737;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=1.51;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:97,0:97:0:.:.:0,0,2069:.	1	0	1	4
chr17	75878277	75878277	G	C	exonic	TRIM47	.	nonsynonymous SNV	TRIM47:NM_033452:exon1:c.C272G:p.P91R	.	411	1098	12	1	0	14	0.00633484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00698882	0.0556	0.5	.	.	.	0	.	0	0.0004398	68	154602	rs577782968	0.0012	0.0010	0.0012	0.0012	0.0171	0.0011	0.0011	0.0157	0.0151	0.0171	0.0034	0.0110	0	8.509e-05	0.0162	0.0005	0.0038	0.0011	0.0057	0.0057	0.0063	0.0051	0.0167	0.0054	0.0053	0.0157	0.0153	0.0167	0.0011	0.0037	0.0127	0	9.526e-05	0.0342	0.0008	0.0038	0.0004	0.136	0.26085	T	0.034	0.52727	D	0.93	0.51791	P	0.578	0.50118	P	0.050333	0.23081	U	0.219521	1	0.08975	N	1.74	0.45129	L	0.93	0.44065	T	0.48	0.03041	N	0.258	0.29197	-0.8804	0.49730	T	0.092	0.35092	T	10	0.0017648935	0.00023	T	.	.	.	0.054	0.15330	.	.	0.503063991398	0.49945	.	.	2.12493175433	0.95057	0.833705663681	0.87130	D	0.022488	0.17329	T	-0.524503	0.00414	T	-0.511908	0.21119	T	0.0423051338128606	0.04110	T	0.322368	0.06563	T	0.049451187	0.08783	0.1390573	0.33192	0.049451187	0.08782	0.1390573	0.33191	-6.204	0.47955	T	.	.	0.089	0.12228	B	.	.	2.120363	0.26987	17.31	0.98909838452120091	0.48345	0.77563	0.38150	D	AEFDBHCI	0.246767	0.36746	N	-0.066640446153496	0.38862	2.282715	-0.170089722099639	0.32642	1.859201	0.99999962251974	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	2.37	2.37	0.28337	1.262000	0.32594	0.658000	0.20477	0.484000	0.22197	0.009000	0.18154	0.000000	0.08366	0.047000	0.14932	0.0:0.0:1.0:0.0	8.343	0.31418	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007991	0.007042	0.000000	0.028037	0.000000	0.000000	0.000000	0.000000	0.08333	97.9	35	chr17	75878277	.	G	C	97.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.019;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.063;SOR=0.804	GT:AD:DP:GQ:PL	0/1:9,5:14:99:108,0,235	5	0	1	0
chr17	75921991	75921991	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon14:c.G1480A:p.G494R	.	404	1104	13	1	0	15	0.00674764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0008	0.00159744	0.0030	0.0040	0.0073	0	0	0.0040	0.0126	0.0018	0.0006856	106	154602	rs61744136	0.0011	0.0011	0.0010	0.0012	0.0260	0.0011	0.0010	0.0226	0.0213	0.0031	0.0028	0.0115	2.798e-05	6.08e-05	0.0260	0.0006	0.0028	0.0016	0.0015	0.0015	0.0017	0.0013	0.0022	0.0013	0.0013	0.0016	0.0015	0.0019	0.0011	0.0022	0.0124	0	9.418e-05	0.0340	0.0008	0.0014	0.0006	.	.	.	0.367	0.16668	T	0.127	0.26966	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.73	0.44655	L	2.29	0.17113	T	.	.	.	0.075	0.04913	-1.0274	0.21299	T	0.038	0.16203	T	9	0.005048305	0.00109	T	.	.	.	.	.	0.225	0.14960	0.151104730317	0.14643	0.1328563028633864	0.13209	.	.	0.311471223831	0.12129	T	0.024036	0.18239	T	-0.590542	0.00166	T	-0.625352	0.10769	T	0.00954904533907244	0.00124	T	0.716128	0.32863	T	0.042809766	0.06560	0.08133094	0.18473	0.042809766	0.06559	0.08133094	0.18472	-4.674	0.33149	T	.	.	0.109	0.24666	B	.;.;.	.;.;.	1.000004	0.13782	10.33	0.92157115828463076	0.21518	0.07827	0.13821	N	AEFBI	0.035051	0.04446	N	-0.634884174838293	0.17904	0.9252401	-0.656243889262236	0.18059	0.9630712	0.201818496286435	0.18132	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.6	4.4	0.52402	0.214000	0.17331	2.441000	0.32772	0.599000	0.40250	0.000000	0.06391	0.026000	0.21063	0.008000	0.08271	0.0:0.8541:0.0:0.1459	8.111	0.30072	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013189	0.005051	0.019366	0.031646	0.000000	0.000000	0.010204	0.004808	0.08333	700.83	36	chr17	75921991	.	C	T	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.149;SOR=0.793	GT:AD:DP:GQ:PL	0/1:50,33:83:99:711,0,1301	5	0	1	0
chr17	75978994	75978994	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_004035:exon1:c.C80T:p.P27L,ACOX1:NM_007292:exon1:c.C80T:p.P27L	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	237439	not_provided|Acyl-CoA_oxidase_deficiency	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0072	0.00559105	0.0033	0.0183	0.0051	0	0.0002	0.0018	0.0077	0.0014	0.0030918	478	154602	rs145082938	0.0016	0.0016	0.0016	0.0016	0.0285	0.0016	0.0015	0.0249	0.0235	0.0183	0.0042	0.0114	2.519e-05	7.907e-05	0.0285	0.0006	0.0040	0.0016	0.0063	0.0063	0.0066	0.0060	0.0186	0.0060	0.0059	0.0175	0.0171	0.0186	0.0011	0.0041	0.0127	0	9.409e-05	0.0340	0.0009	0.0057	0.0006	0.09	0.31987	T	0.202	0.28300	T	0.0	0.07471	B	0.002	0.06944	B	0.002795	0.35935	N	0.296932	0.999699	0.81001	D	1.95	0.52479	M	-0.13	0.64818	T	-3.52	0.68412	D	0.168	0.19459	-0.8747	0.50173	T	0.113	0.40377	T	10	0.00561586	0.00125	T	.	.	.	0.114	0.32008	.	.	0.697566865013	0.69495	0.6616722337909623	0.66104	0.659582380596	0.58814	0.479379892349	0.35971	T	0.467308	0.80169	T	-0.463065	0.00941	T	-0.423657	0.30658	T	0.0533136793918528	0.06073	T	0.90211	0.65873	D	0.19369115	0.41090	0.26735798	0.52592	0.20065153	0.42047	0.28335834	0.54328	-3.908	0.28008	T	.	.	0.09	0.17488	B	.;.;.	.;.;.	3.891890	0.56638	23.8	0.99720487541705172	0.81984	0.93706	0.58959	D	ALL	0.542320	0.55811	D	0.0254650949938461	0.43015	2.602847	0.156769912805385	0.47500	2.979432	0.999999999857169	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	3.75	0.42236	4.244000	0.58522	6.122000	0.53799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.849:0.0	10.865	0.46054	726	0.54788	.;Acyl-coenzyme A oxidase, N-terminal;Acyl-coenzyme A oxidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019153	0.020202	0.020380	0.052632	0.000000	0.025862	0.006135	0.003788	0.08333	1004.83	37	chr17	75978994	.	G	A	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.518;DP=259;ExcessHet=0;FS=0.859;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.223;SOR=0.889	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1015,0,935	5	0	1	0
chr17	76007755	76007755	G	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C5516G:p.S1839C,EVPL:NM_001988:exon22:c.C5450G:p.S1817C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0629709911113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.077	0.45110	T	0.993	0.65571	D	0.72	0.54860	P	0.046725	0.23411	N	0.472008	1	0.08975	N	1.645	0.42016	L	-0.43	0.69657	T	-1.9	0.44284	N	0.228	0.26717	-0.6923	0.60801	T	0.298	0.66942	T	10	0.22776076	0.39664	T	0.062971	0.68822	D	0.108	0.30607	0.375	0.38830	0.709025157765	0.70648	0.3181217063644736	0.31725	0.21898844824	0.24440	0.352479279041	0.18286	T	0.193369	0.54882	T	-0.070111	0.41310	T	-0.338486	0.40516	T	0.424216330051422	0.29846	T	0.673733	0.28234	T	0.14577644	0.33402	0.15694636	0.36721	0.14577644	0.33401	0.15694636	0.36720	-7.225	0.55660	T	.	.	0.073	0.04764	B	.;.	.;.	2.745551	0.35970	20.1	0.90825066418719336	0.20074	0.39012	0.26117	N	AEFGBHCI	0.365960	0.45395	N	-0.182434568784347	0.33867	1.926306	-0.243046490386023	0.30011	1.686156	0.998800898080147	0.37711	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.25	5.25	0.73169	2.364000	0.43840	3.887000	0.40272	0.665000	0.62972	0.487000	0.26855	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.807:0.193	13.71	0.62143	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1174.83	35	chr17	76007755	.	G	C	1174.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.042;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.262;SOR=0.619	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	5	0	1	0
chr17	76008657	76008659	CTC	-	exonic	EVPL	.	nonframeshift deletion	EVPL:NM_001320747:exon22:c.4612_4614del:p.E1538del,EVPL:NM_001988:exon22:c.4546_4548del:p.E1516del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.951e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs750335053	2.054e-05	2.052e-05	1.363e-05	2.753e-05	0.0006	1.457e-05	1.265e-05	0.0004	0.0004	0	0	0	0.0006	0	0	0	1.656e-05	5.797e-05	2.628e-05	2.625e-05	3.856e-05	1.344e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3079.79	35	chr17	76008656	.	TCTC	T	3079.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.178;DP=359;ExcessHet=0;FS=5.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.16;ReadPosRankSum=-0.674;SOR=0.848	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	5	0	1	0
chr17	76019575	76019575	G	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon10:c.C1090T:p.P364S,EVPL:NM_001988:exon10:c.C1090T:p.P364S	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0105130517923	7.7e-05	.	2.597e-05	0	8.717e-05	0	0	3.087e-05	0	0	1.94e-05	3	154602	rs142325371	3.467e-05	3.489e-05	3.311e-05	3.626e-05	4.992e-05	2.667e-05	2.407e-05	3.192e-05	2.855e-05	0	4.992e-05	0	0	0	0	4.164e-05	3.361e-05	0	1.971e-05	1.97e-05	3.853e-05	0	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	0.767	0.03412	T	0.7	0.05727	T	0.0	0.02946	B	0.001	0.04355	B	0.262305	0.15290	N	0.648376	1	0.08975	N	0.2	0.09183	N	-0.13	0.64818	T	-0.84	0.22944	N	0.133	0.13626	-1.0265	0.21593	T	0.127	0.43462	T	10	0.07978752	0.12876	T	0.010513	0.27131	T	0.033	0.08068	.	.	0.572657343838	0.56932	0.12355921584755222	0.12281	0.190360239417	0.21353	0.259074985981	0.04782	T	0.101405	0.40812	T	-0.367135	0.03741	T	-0.581749	0.14390	T	0.0224518118135236	0.00960	T	0.579642	0.20943	T	0.025908604	0.01582	0.05608827	0.09957	0.025908604	0.01582	0.05608827	0.09956	-4.113	0.25481	T	.	.	0.076	0.05935	B	.;.	.;.	0.554265	0.09227	6.011	0.19764380923918079	0.00682	0.07986	0.13967	N	AEFBI	0.124032	0.23990	N	-0.986442374776398	0.08893	0.4187227	-1.02719125857189	0.09190	0.4558017	9.3565276753294E-5	0.04910	0.59774	0.34471	0	0.573888	0.26702	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.92	0.246	0.14777	0.563000	0.23250	1.052000	0.23646	0.676000	0.76740	0.058000	0.21700	0.000000	0.08366	0.028000	0.12845	0.0866:0.2471:0.3134:0.3529	2.720	0.04876	701	0.57775	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	822.83	42	chr17	76019575	.	G	A	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.676;DP=214;ExcessHet=0;FS=1.114;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=0.243;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	5	0	1	0
chr17	76077279	76077279	G	C	exonic	GALR2	.	nonsynonymous SNV	GALR2:NM_003857:exon2:c.G1012C:p.E338Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0453743956177	.	.	1.444e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs780558089	4.077e-05	4.241e-05	3.849e-05	4.307e-05	0.0002	3.211e-05	2.94e-05	3.814e-05	3.416e-05	0	4.546e-05	0	0	0	0.0002	4.869e-05	3.335e-05	0	2.627e-05	2.626e-05	3.853e-05	1.344e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.175	0.22400	T	0.355	0.17217	T	0.3	0.32550	B	0.039	0.23607	B	0.711803	0.10007	N	0.815721	0.837754	0.28673	N	1.445	0.36358	L	-0.43	0.69657	T	-0.17	0.09627	N	0.141	0.14054	-0.9773	0.35616	T	0.162	0.49731	T	10	0.18290445	0.33593	T	0.045374	0.61950	D	0.127	0.34888	.	.	0.838210945588	0.83666	0.29125288954173384	0.29038	.	.	0.555613040924	0.46648	T	0.055713	0.30084	T	-0.302103	0.08462	T	-0.492044	0.23177	T	0.104930850163065	0.12890	T	0.564843	0.19943	T	0.14841773	0.33885	0.15215322	0.35810	0.14841773	0.33884	0.15215322	0.35809	-3.541	0.17010	T	.	.	0.108	0.20352	B	.	.	2.519122	0.32546	19.08	0.98534660466077417	0.42632	0.94059	0.59989	D	AEFDGBHCI	0.724573	0.67383	D	-0.418150752087694	0.24833	1.343689	-0.343332047312881	0.26715	1.477477	0.999999979608643	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.74	3.75	0.42236	4.370000	0.59288	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:0.3072:0.6928:0.0	13.139	0.58843	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1606.83	39	chr17	76077279	.	G	C	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=335;ExcessHet=0;FS=5.201;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.489;SOR=0.931	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,110,1471	5	0	1	0
chr17	76094483	76094483	C	T	exonic	EXOC7	.	nonsynonymous SNV	EXOC7:NM_001282313:exon5:c.G616A:p.V206I,EXOC7:NM_001013839:exon6:c.G739A:p.V247I,EXOC7:NM_001145297:exon6:c.G739A:p.V247I,EXOC7:NM_001145298:exon6:c.G739A:p.V247I,EXOC7:NM_001145299:exon6:c.G739A:p.V247I,EXOC7:NM_001375974:exon6:c.G739A:p.V247I,EXOC7:NM_001375975:exon6:c.G739A:p.V247I,EXOC7:NM_001375976:exon6:c.G739A:p.V247I,EXOC7:NM_015219:exon6:c.G739A:p.V247I	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0040545225228	0.0011	0.000399361	0.0008	9.612e-05	0.0004	0	0.0008	0.0013	0.0033	0	0.0007697	119	154602	rs145623846	0.0009	0.0009	0.0009	0.0009	0.0010	0.0008	0.0008	0.0010	0.0009	2.987e-05	0.0007	0.0016	0	0.0005	0.0005	0.0010	0.0010	2.319e-05	0.0008	0.0008	0.0009	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0007	0.0009	0	9.434e-05	0	0.0013	0.0014	0.0002	0.389	0.12552	T	0.445	0.13328	T	0.006	0.13644	B	0.009	0.18489	B	0.000056	0.53742	D	0.128081	0.806554	0.47363	D	0.17	0.09006	N	.	.	.	-0.21	0.13418	N	0.247	0.33030	-1.0245	0.22246	T	0.099	0.36932	T	9	0.019647568	0.00441	T	0.004055	0.09650	T	0.047	0.12962	.	.	0.533375117726	0.52987	0.12893110359720628	0.12818	0.338961400606	0.35858	0.538347184658	0.44213	T	0.155868	0.49779	T	-0.447834	0.01163	T	-0.440687	0.28730	T	0.0134408622980118	0.00244	T	0.89861	0.64536	D	0.09712054	0.22888	0.051316157	0.08232	0.09712054	0.22887	0.051316157	0.08232	-2.644	0.11492	T	.	.	0.067	0.03372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.609105	0.51017	23.0	0.98897115806428515	0.48109	0.91320	0.53296	D	AEFDBCI	0.564230	0.57110	D	-0.363868886146749	0.26765	1.463287	-0.154799347362054	0.33224	1.898293	0.999976444876896	0.50053	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.952000	0.48790	.	.	0.596000	0.33519	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.969	0.79789	681	0.59854	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	766.83	33	chr17	76094483	.	C	T	766.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.154;DP=245;ExcessHet=0;FS=9.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=2.01;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	5	0	1	0
chr17	76137952	76137952	C	A	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G667T:p.A223S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.404873621298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.301	0.20293	T	0.825	0.45873	P	0.495	0.47504	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-3.44	0.94428	D	-0.5	0.15782	N	0.213	0.23758	0.674	0.92845	D	0.818	0.93880	D	10	0.37268645	0.53596	T	0.404874	0.93475	D	0.535	0.80486	0.244	0.17830	0.624392809162	0.62133	0.35321987304593494	0.35235	1.04732435753	0.76000	0.691409468651	0.65909	T	0.186784	0.54019	T	0.148425	0.69121	D	-0.0245738	0.68728	D	0.877705872058868	0.52761	D	0.782222	0.41780	T	0.19689998	0.41535	0.17757659	0.40368	0.19689998	0.41535	0.17757659	0.40367	-5.226	0.39205	T	.	.	0.13	0.27910	B	.	.	4.631162	0.73641	26.0	0.9963444670518925	0.76264	0.98161	0.80128	D	AEFDBHCI	0.916752	0.88340	D	0.428369448306039	0.62986	4.524109	0.445771618165184	0.64447	4.69995	0.999999999999996	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.78	4.78	0.60666	5.646000	0.67590	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:1.0:0.0:0.0	17.798	0.88488	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	363.83	34	chr17	76137952	.	C	A	363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.079;DP=205;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.114;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1211:.	5	0	1	0
chr17	78131664	78131664	A	T	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon2:c.A76T:p.M26L	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3620251	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0436377313524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224236608	2.825e-06	2.736e-06	1.397e-06	4.284e-06	3.67e-06	6.6e-07	4.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	0	0	1.314e-05	1.313e-05	2.57e-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	0.654	0.04786	T	0.145	0.36901	T	0.0	0.02946	B	0.0	0.01387	B	0.975995	0.07810	N	1.015750	1	0.81001	D	1.68	0.43186	L	-0.75	0.73311	T	-1.04	0.27259	N	0.238	0.26837	-0.8668	0.50768	T	0.137	0.45260	T	10	0.066233516	0.09054	T	0.043638	0.61084	D	0.074	0.21613	0.368	0.37687	0.311079019809	0.30711	0.5793361551651859	0.57862	1.12626040767	0.78466	0.67870080471	0.64083	T	0.008449	0.07757	T	-0.164481	0.26074	T	-0.474042	0.25082	T	0.0419952609311506	0.04054	T	0.671133	0.28021	T	0.069977865	0.15376	0.057595946	0.10497	0.069977865	0.15376	0.057595946	0.10497	-1.507	0.01778	T	0.09813306485725724	0.06981	0.581	0.68102	P	.;.	.;.	1.456606	0.18786	13.92	0.86652507681483981	0.16681	0.53722	0.29441	D	AEFDBHCI	0.237686	0.35993	N	-0.918827945622379	0.10402	0.4969062	-0.806547885474798	0.14337	0.7486091	0.999998815022834	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.13	-0.645	0.10899	1.213000	0.32011	-0.799000	0.07382	0.658000	0.54486	0.992000	0.37556	0.000000	0.08366	0.859000	0.40722	0.4873:0.2361:0.2766:0.0	2.974	0.05571	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	132.83	35	chr17	78131664	.	A	T	132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.489;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.559;SOR=0.33	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,681	5	0	1	0
chr17	78890831	78890831	G	A	exonic	CEP295NL	.	nonsynonymous SNV	CEP295NL:NM_001243540:exon3:c.C1673T:p.T558M,CEP295NL:NM_001243541:exon3:c.C1499T:p.T500M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0142313520964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978770019	2.431e-05	2.326e-05	2.54e-05	2.32e-05	0.0003	1.75e-05	1.544e-05	0.0001	9.112e-05	0.0003	0	0	0.0001	0	0	1.668e-05	1.724e-05	2.524e-05	5.915e-05	5.91e-05	6.424e-05	5.382e-05	0.0002	3.078e-05	2.211e-05	0.0001	8.459e-05	0.0002	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.096	0.39340	T	0.593	0.39147	P	0.09	0.29851	B	0.164788	0.03066	N	1.864250	0.999998	0.08975	N	.	.	.	1.81	0.25182	T	-1.19	0.30346	N	0.072	0.05037	-1.0147	0.25432	T	0.039	0.16677	T	9	0.055319637	0.06028	T	0.014231	0.34206	T	0.032	0.07718	.	.	0.16115917748	0.15686	0.03961275245163661	0.03907	.	.	0.288346499205	0.08683	T	0.040078	0.25406	T	-0.527477	0.00397	T	-0.665459	0.07902	T	0.331562489271164	0.26287	T	0.451355	0.12777	T	0.035929035	0.04322	0.062366176	0.12191	0.035929035	0.04322	0.062366176	0.12190	-4.968	0.36490	T	.	.	0.121	0.27283	B	.;.	.;.	0.974790	0.13522	10.04	0.995630441483905	0.71892	0.08956	0.14805	N	ALL	0.033806	0.04077	N	-0.89503916129412	0.10960	0.5263986	-1.04724580833228	0.08764	0.4325209	0.999999999965591	0.74766	0.372202	0.05800	0	0.607795	0.50457	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.17	-1.47	0.08312	-0.336000	0.07908	-0.237000	0.10625	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2566:0.3323:0.4111:0.0	4.881	0.13037	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1539.83	33	chr17	78890831	.	G	A	1539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.503;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=2.14;SOR=0.668	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2748.83	183	chr17	79735355	.	C	A	2748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=371;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.607;SOR=0.756	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	5	0	1	0
chr17	79737219	79737219	A	G	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon4:c.A1205G:p.N402S	.	423	1050	46	3	0	52	0.0241636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0021	0.00439297	0.0049	0.0004	0.0068	0.0001	0.0011	0.0037	0.0088	0.0140	0.003978	615	154602	rs148504454	0.0030	0.0030	0.0025	0.0035	0.0345	0.0029	0.0029	0.0306	0.0291	0.0013	0.0033	0.0008	5.038e-05	0.0016	0.0345	0.0022	0.0049	0.0133	0.0024	0.0024	0.0023	0.0025	0.0139	0.0022	0.0021	0.0112	0.0102	0.0006	0.0011	0.0036	0.0017	0	0.0009	0.0204	0.0027	0.0047	0.0139	0.042	0.41637	D	0.06	0.55759	T	.	.	.	.	.	.	0.000013	0.62929	D	0.107917	0.97117	0.38851	D	.	.	.	-1.27	0.81640	T	-3.78	0.71519	D	0.311	0.35088	-0.4144	0.71570	T	0.316	0.68566	T	10	0.0114685595	0.00250	T	.	.	.	0.363	0.68319	.	.	0.678820268726	0.67608	0.8019497746686944	0.80148	0.271583772953	0.29678	0.260539412498	0.04955	T	0.485718	0.81251	T	-0.45022	0.01126	T	-0.408455	0.32402	T	0.0712710769880274	0.08828	T	0.830517	0.49623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.39425	B	.;.	.;.	2.445970	0.31491	18.76	0.99673268891014699	0.78717	0.90093	0.51004	D	AEFBCI	0.886620	0.81816	D	0.0800277301162812	0.45531	2.808124	-0.0453504094764763	0.37692	2.210384	0.767705452842803	0.23617	0.516011	0.20929	0	0.610034	0.51514	0	0.586423	0.30347	0	0.542086	0.14980	0	.	.	3.07	1.97	0.25278	5.895000	0.69554	6.686000	0.56326	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.8997:0.0:0.1003:0.0	8.173	0.30425	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.023690	0.005051	0.029891	0.044118	0.000000	0.034483	0.009146	0.018939	0.08333	907.83	34	chr17	79737219	.	A	G	907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.202;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.841;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	5	0	1	0
chr17	80309105	80309105	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon14:c.G2589C:p.K863N,RNF213:NM_020954:exon14:c.G2589C:p.K863N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0111126796292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407377122	5.472e-06	5.472e-06	6.806e-06	4.125e-06	4.637e-05	2.35e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	0	4.637e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.469	0.20759	T	0.415	0.40267	T	.	.	.	.	.	.	0.000577	0.00639	N	3.163830	1	0.08975	N	1.04	0.26193	L	2.58	0.13434	T	-1.05	0.37955	N	0.218	0.24385	-1.0222	0.22998	T	0.022	0.09375	T	10	0.10433486	0.19229	T	0.011113	0.28394	T	0.042	0.11227	.	.	0.234412748748	0.23057	.	.	0.426814418102	0.43046	0.308584690094	0.11693	T	0.040417	0.25761	T	-0.378954	0.03163	T	-0.766632	0.02880	T	0.0872386963316469	0.10887	T	0.316668	0.12136	T	.	.	.	.	.	.	.	.	-3.492	0.16320	T	.	.	0.163	0.35951	B	.;.;.	.;.;.	0.579225	0.09474	6.255	0.5854376584505131	0.06017	0.06365	0.12366	N	AEFDGBIJ	0.037098	0.05047	N	-1.03706164962578	0.07843	0.3657616	-1.13938486816717	0.06961	0.3368339	0.00381504973179052	0.10290	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.38	-2.48	0.06052	0.242000	0.17862	-0.578000	0.08391	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1553:0.3819:0.3326:0.1303	3.172	0.06164	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	692.83	34	chr17	80309105	.	G	C	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.917;DP=241;ExcessHet=0;FS=3.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.38;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	5	0	1	0
chr17	80332245	80332245	G	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon21:c.G3757C:p.A1253P	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0117628578135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036860484	1.228e-05	1.163e-05	9.978e-06	1.463e-05	0.0002	7.48e-06	6.11e-06	0.0001	8.118e-05	0	0.0002	0	0	0	0	6.488e-06	3.453e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.27	0.16038	T	0.166	0.30828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.85	0.24472	T	-0.84	0.22944	N	0.15	0.15328	-1.0121	0.26259	T	0.104	0.38316	T	8	0.10150948	0.18551	T	0.011763	0.29704	T	0.081	0.23632	.	.	0.315314060047	0.31143	.	.	0.506631361283	0.48860	0.256586104631	0.04492	T	0.009641	0.08763	T	-0.397178	0.02416	T	-0.500878	0.22257	T	0.0723895717349689	0.08983	T	0.480552	0.14510	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12465	B	.;.	.;.	1.263104	0.16614	12.65	0.52049632018868219	0.04675	0.22369	0.21723	N	AEFDGBI	0.253530	0.37301	N	-0.537632085535346	0.20873	1.103611	-0.739972394090344	0.15968	0.8425075	0.00408116933723264	0.10410	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	1.21	1.21	0.20240	-0.344000	0.07829	0.482000	0.18815	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.003000	0.05239	0.0:0.2329:0.7671:0.0	8.889	0.34585	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1752.83	114	chr17	80332245	.	G	C	1752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.795;DP=486;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.286;SOR=0.542	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	5	0	1	0
chr17	80339481	80339481	C	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon26:c.C5114A:p.T1705K	.	0	1512	10	0	0	10	0.00329598	.	.	.	404727	not_provided|RNF213-related_disorder|Moyamoya_disease_2	MedGen:C3661900|.|MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	0.0389381978978	0.0070	0.00179712	0.0044	0.0011	0.0066	0	0	0.0054	0.0060	0.0043	0.0015459	239	154602	rs147868237	0.0078	0.0074	0.0079	0.0076	0.0091	0.0076	0.0076	0.0090	0.0089	0.0013	0.0024	7.942e-05	0	0.0023	0.0033	0.0091	0.0070	0.0036	0.0045	0.0045	0.0049	0.0041	0.0079	0.0042	0.0041	0.0074	0.0072	0.0015	0	0.0025	0	0	0.0020	0.0068	0.0079	0.0033	0.0029	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.868388	0.35516	D	.	.	.	1.22	0.37405	T	-4.88	0.81350	D	0.643	0.65501	-0.4718	0.69662	T	0.258	0.62823	T	6	0.0135706365	0.00287	T	0.038938	0.58518	D	0.171	0.43483	.	.	0.545696997403	0.54224	.	.	1.13289421902	0.78681	0.537699520588	0.44120	T	0.250952	0.62112	T	-0.364219	0.03897	T	-0.288133	0.45967	T	0.0357116047724245	0.02930	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.62361	A	.;.	.;.	3.129836	0.42292	21.5	0.95721625347581629	0.27646	0.90708	0.52111	D	AEFDGBHCI	0.424317	0.48954	N	0.339997956176872	0.58214	3.99237	0.383633584453156	0.60554	4.244408	0.998421025677962	0.36942	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	4.76	0.60189	4.901000	0.62947	5.783000	0.49817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	0.0:0.7622:0.2378:0.0	16.207	0.81954	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002825	0.000000	0.000000	0.000000	0.000000	0.000000	0.006757	0.012821	0.08333	2048.83	34	chr17	80339481	.	C	A	2048.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.411;DP=373;ExcessHet=0;FS=1.23;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.831;SOR=0.607	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chr17	81103530	81103530	C	T	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385150:exon6:c.C437T:p.P146L,BAIAP2:NM_001385151:exon6:c.C437T:p.P146L,BAIAP2:NM_001385152:exon6:c.C437T:p.P146L,BAIAP2:NM_001385153:exon6:c.C437T:p.P146L,BAIAP2:NM_001385154:exon6:c.C437T:p.P146L,BAIAP2:NM_001385155:exon6:c.C437T:p.P146L,BAIAP2:NM_001385156:exon6:c.C437T:p.P146L,BAIAP2:NM_001385147:exon7:c.C497T:p.P166L,BAIAP2:NM_001385149:exon7:c.C497T:p.P166L,BAIAP2:NM_001144888:exon8:c.C671T:p.P224L,BAIAP2:NM_001385127:exon8:c.C671T:p.P224L,BAIAP2:NM_001385128:exon8:c.C671T:p.P224L,BAIAP2:NM_001385131:exon8:c.C671T:p.P224L,BAIAP2:NM_001385138:exon8:c.C671T:p.P224L,BAIAP2:NM_001385139:exon8:c.C671T:p.P224L,BAIAP2:NM_001385140:exon8:c.C671T:p.P224L,BAIAP2:NM_001385141:exon8:c.C671T:p.P224L,BAIAP2:NM_001385144:exon8:c.C665T:p.P222L,BAIAP2:NM_001385145:exon8:c.C671T:p.P224L,BAIAP2:NM_001385146:exon8:c.C671T:p.P224L,BAIAP2:NM_001385148:exon8:c.C497T:p.P166L,BAIAP2:NM_006340:exon8:c.C671T:p.P224L,BAIAP2:NM_017450:exon8:c.C671T:p.P224L,BAIAP2:NM_017451:exon8:c.C671T:p.P224L,BAIAP2:NM_001385129:exon9:c.C770T:p.P257L,BAIAP2:NM_001385130:exon9:c.C770T:p.P257L,BAIAP2:NM_001385132:exon9:c.C770T:p.P257L,BAIAP2:NM_001385133:exon9:c.C770T:p.P257L,BAIAP2:NM_001385134:exon9:c.C770T:p.P257L,BAIAP2:NM_001385135:exon9:c.C770T:p.P257L,BAIAP2:NM_001385136:exon9:c.C770T:p.P257L,BAIAP2:NM_001385137:exon9:c.C746T:p.P249L	.	.	.	.	.	.	.	.	.	.	.	2340156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.129281192573	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0002	6.47e-05	10	154602	rs369167632	3.27e-05	3.899e-05	3.183e-05	3.358e-05	8.277e-05	2.52e-05	2.258e-05	3.832e-05	2.704e-05	6.032e-05	4.627e-05	3.867e-05	0	0	0	2.982e-05	3.346e-05	8.277e-05	3.941e-05	3.94e-05	2.569e-05	5.378e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.54e-05	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	1.42	0.34452	T	-6.36	0.92173	D	0.808	0.83576	-0.8230	0.53746	T	0.225	0.58894	T	10	0.7647332	0.76616	D	0.129281	0.81132	D	0.356	0.67691	.	.	0.897369660665	0.89635	0.9045814661761498	0.90431	1.80444484246	0.91712	0.697999536991	0.66856	T	0.69685	0.91235	D	0.133374	0.67688	D	-0.0461936	0.67282	D	0.854862630367279	0.50590	D	0.993034	0.99924	D	0.6802316	0.76981	0.7041763	0.82563	0.6802316	0.76983	0.7041763	0.82564	-12.311	0.86690	D	.	.	0.223	0.63200	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.443621	0.90965	32	0.99901295364343845	0.97275	0.99636	0.98212	D	AEFDBI	0.950664	0.96451	D	0.754498609006677	0.83197	7.954794	0.74605263143618	0.85862	8.708857	0.999999999996484	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.5	5.5	0.81386	7.440000	0.79607	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.416	0.94691	.	.	.;.;.;IMD/I-BAR domain|IMD/I-BAR domain;.;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain;IMD/I-BAR domain|IMD/I-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	743.83	33	chr17	81103530	.	C	T	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=278;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.574;SOR=0.432	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1175	5	0	1	0
chr17	81447231	81447231	T	C	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.T3359C:p.L1120P,BAHCC1:NM_001291324:exon12:c.T3452C:p.L1151P	.	406	1112	4	0	0	4	0.00179533	.	.	.	3185407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0014	0.00339457	0.0060	0.0009	0.0012	0	0.0399	0.0057	0.0124	0.0001	0.0034217	529	154602	rs191224872	0.0044	0.0044	0.0050	0.0039	0.0026	0.0043	0.0042	0.0024	0.0024	0.0008	0.0008	0.0024	0	0.0307	0.0013	0.0026	0.0038	9.7e-05	0.0038	0.0038	0.0031	0.0046	0.0028	0.0036	0.0035	0.0025	0.0023	0.0004	0.0593	0.0005	0.0020	0	0.0283	0	0.0028	0.0028	0.0002	0.222	0.18823	T	0.303	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.892444	0.08678	N	0.936716	0.99992	0.19486	N	.	.	.	1.48	0.31731	T	-0.13	0.08971	N	0.028	0.11340	-1.0034	0.28933	T	0.017	0.06902	T	10	0.0031389594	0.00052	T	.	.	.	0.071	0.20720	.	.	0.0762999501168	0.06990	0.2181747744228814	0.21733	0.137879382062	0.15542	0.466342836618	0.34180	T	0.225461	0.59020	T	-0.504446	0.00540	T	-0.497386	0.22619	T	0.000566347415817984	0.00005	T	0.539146	0.18332	T	0.053144302	0.10015	0.07583128	0.16735	0.053144302	0.10014	0.07583128	0.16735	-2.868	0.08828	T	.	.	0.063	0.02313	B	.;.	.;.	1.832180	0.23282	15.96	0.74533949412862499	0.10731	0.02019	0.06066	N	AEFDBCI	0.058178	0.10895	N	-1.04926282079916	0.07602	0.3536977	-1.02441795244786	0.09249	0.4590963	0.0302329944323123	0.13931	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.19	1.92	0.24912	-0.306000	0.08217	2.120000	0.30714	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.063000	0.16184	0.0:0.2396:0.3991:0.3613	3.841	0.08425	.	.	.;.	.	.	.	.	rs191224872	Likely benign	0	0	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	0.002528	0.010309	0.004087	0.000000	0.000000	0.008929	0.003086	0.000000	0.08333	909.83	38	chr17	81447231	.	T	C	909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=263;ExcessHet=0;FS=0.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.03;SOR=0.536	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1379	5	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.08333	1039.83	36	chr17	81460363	.	G	A	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=254;ExcessHet=0;FS=3.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.755;SOR=0.378	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1184	5	0	1	0
chr17	81461259	81461259	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon26:c.G6596A:p.R2199Q,BAHCC1:NM_001291324:exon27:c.G6689A:p.R2230Q	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.148827826918	.	0.000998403	0.0021	0	0.0052	0	0	0.0003	0.0072	0.0077	0.000705	109	154602	rs369588790	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0045	0.0043	6.375e-05	0.0008	0	3.051e-05	0	0.0005	0.0001	0.0007	0.0050	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	0.0003	0.0006	0.0002	0	0	5.881e-05	0	0.0068	0.044	0.41096	D	0.341	0.18178	T	0.998	0.73220	D	0.852	0.60758	P	0.003643	0.34662	N	0.111856	0.600294	0.30946	N	.	.	.	2.67	0.12473	T	-1.79	0.42191	N	0.4	0.45992	-1.0190	0.24041	T	0.082	0.32207	T	10	0.0058084726	0.00130	T	0.148828	0.83071	D	0.085	0.24743	0.243	0.17677	0.0806252709748	0.07271	0.29755636023076176	0.29668	0.490117653545	0.47753	0.720437049866	0.70110	T	0.063578	0.32212	T	-0.47298	0.00815	T	-0.451639	0.27516	T	0.0520052614190075	0.05848	T	0.878612	0.59406	D	0.12198696	0.28674	0.15273169	0.35922	0.12198696	0.28674	0.15273169	0.35921	-6.159	0.47590	T	.	.	0.133	0.28664	B	.;.	.;.	4.044608	0.59904	24.2	0.99918589436188165	0.98586	0.85769	0.44939	D	AEFGBHCIJ	0.521916	0.54615	D	0.391278033739046	0.60949	4.289709	0.348043698379776	0.58389	4.009204	0.999999999959189	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.35	5.35	0.76297	1.779000	0.38254	11.642000	0.93799	0.672000	0.70159	0.994000	0.38300	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	17.806	0.88511	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.005208	0.001374	0.000000	0.000000	0.000000	0.000000	0.003846	0.08333	436.83	36	chr17	81461259	.	G	A	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=212;ExcessHet=0;FS=7.791;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.235;SOR=1.336	GT:AD:DP:GQ:PL	0/1:18,15:33:99:447,0,490	5	0	1	0
chr17	81940838	81940838	G	A	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.C904T:p.R302C	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0465145431233	.	0.000798722	0.0010	0	0	0	0	0.0019	0	0	0.0002781	43	154602	rs145256888	0.0014	0.0014	0.0015	0.0013	0.0016	0.0014	0.0014	0.0015	0.0015	9.691e-05	0.0014	0.0054	0.0001	6.444e-05	0.0005	0.0016	0.0014	0.0002	0.0010	0.0010	0.0010	0.0009	0.0020	0.0008	0.0008	0.0015	0.0013	0.0002	0	0.0020	0.0072	0.0004	0	0	0.0011	0.0019	0	0.037	0.43085	D	0.033	0.53072	D	1.0	0.90584	D	0.886	0.62898	P	0.000000	0.84330	D	0.053330	1	0.81001	D	2.64	0.77224	M	.	.	.	-0.59	0.17624	N	0.611	0.62781	-0.2735	0.75717	T	0.376	0.73423	T	9	0.01415509	0.00298	T	0.046515	0.62494	D	0.227	0.52620	.	.	0.152612264143	0.14878	0.7403572393625851	0.73980	.	.	0.571235537529	0.48853	T	0.005063	0.04495	T	0.0178318	0.54090	T	0.245574	0.85411	D	0.0408759495148814	0.03849	T	0.958804	0.84482	D	0.24471645	0.47424	0.21329533	0.45834	0.24471645	0.47423	0.21329533	0.45833	-3.753	0.20104	T	.	.	0.199	0.42229	B	.	.	5.659373	0.92865	33	0.99937428964575725	0.99661	0.97710	0.76577	D	AEFGBI	0.807517	0.73154	D	0.660007841967158	0.77018	6.59462	0.633613821315495	0.77394	6.671161	0.999999999838862	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.68	4.68	0.58319	6.333000	0.72893	11.284000	0.91844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.773	0.88409	.	.	Marvel 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	.	.	.	.	.	.	.	.	0.08333	1322.83	137	chr17	81940838	.	G	A	1322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=1.16;SOR=0.65	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,113,1279	5	0	1	0
chr17	82025504	82025504	G	A	exonic	LRRC45	.	nonsynonymous SNV	LRRC45:NM_144999:exon5:c.G658A:p.V220M	.	408	1111	3	0	0	3	0.00134831	.	.	.	3511923	LRRC45-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0547945598441	.	0.000998403	0.0010	0	8.703e-05	0	0	0	0	0.0086	0.0007697	119	154602	rs557866291	0.0004	0.0004	0.0002	0.0005	0.0060	0.0004	0.0003	0.0056	0.0054	0	2.28e-05	3.935e-05	5.05e-05	7.715e-05	0	3.618e-06	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0045	7.215e-05	0	0	0	0	0	0	0	0	0.0070	0.006	0.61437	D	0.02	0.58613	D	0.994	0.66517	D	0.754	0.56161	P	0.009330	0.30410	N	0.277471	0.980043	0.39625	D	2.38	0.68558	M	0.6	0.53731	T	-1.59	0.38345	N	0.641	0.65330	-0.9466	0.41549	T	0.150	0.47663	T	9	0.011545956	0.00252	T	0.054795	0.65991	D	0.168	0.42943	0.487	0.57098	0.313518423057	0.30959	0.39159803848690156	0.39074	0.641525643221	0.57744	0.451737105846	0.32181	T	0.033681	0.23013	T	-0.338582	0.05488	T	-0.256098	0.49213	T	0.0552821057941027	0.06405	T	0.940506	0.77585	D	0.0873989	0.20350	0.1373582	0.32835	0.0873989	0.20349	0.1373582	0.32834	-6.956	0.53712	T	.	.	0.104	0.18705	B	.	.	4.474445	0.69757	25.4	0.99843712796750306	0.92403	0.87373	0.46892	D	AEFGBI	0.263123	0.38073	N	0.254652232196385	0.53870	3.554114	0.23320182105511	0.51698	3.350205	0.999967326575799	0.48965	0.626454	0.40138	0	0.80507	0.99744	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.4	3.34	0.37357	3.033000	0.49433	7.286000	0.58039	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.361000	0.25909	0.0894:0.1681:0.7425:0.0	7.576	0.27104	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.000000	0.001359	0.002959	0.000000	0.000000	0.003049	0.000000	0.08333	326.83	33	chr17	82025504	.	G	A	326.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.231;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.437;SOR=0.719	GT:AD:DP:GQ:PL	0/1:19,14:33:99:337,0,498	5	0	1	0
chr17	82085510	82085510	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon23:c.C4094T:p.P1365L	.	1	1520	1	0	0	1	0.000328839	.	.	.	1444669	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00968734473483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902738984	8.316e-06	1.3e-05	6.88e-06	9.774e-06	0.0002	4.44e-06	3.5e-06	7.86e-06	2.94e-06	3.018e-05	4.742e-05	0	0	0	0.0002	5.436e-06	1.677e-05	1.195e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.337	0.12837	T	0.316	0.19362	T	0.001	0.07471	B	0.001	0.04355	B	0.996809	0.07939	U	1.001760	0.999313	0.21372	N	0.41	0.12415	N	3.12	0.08106	T	-1.23	0.31170	N	0.153	0.15749	-0.9143	0.46311	T	0.014	0.05608	T	10	0.05924189	0.07090	T	0.009687	0.25313	T	0.045	0.12272	0.469	0.54214	0.082315109003	0.07666	0.3070078756270675	0.30613	.	.	0.315712809563	0.12771	T	0.242566	0.61133	T	-0.376523	0.03276	T	-0.778626	0.02495	T	0.0467746466269936	0.04924	T	0.739826	0.35853	T	0.017507875	0.00278	0.029237296	0.01241	0.017507875	0.00278	0.029237296	0.01241	-3.616	0.18088	T	.	.	0.100	0.16973	B	.;.	.;.	0.343469	0.07169	3.755	0.58144070362596967	0.05927	0.16912	0.19605	N	AEFBCI	0.125712	0.24234	N	-1.12955423424477	0.06123	0.2810155	-1.21959545937049	0.05595	0.2670434	0.450006296157217	0.20531	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.55	-3.72	0.04125	0.050000	0.14004	1.565000	0.27381	0.672000	0.70159	0.000000	0.06391	0.920000	0.28304	0.002000	0.04165	0.3919:0.1079:0.2638:0.2364	1.011	0.01402	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.08333	935.83	61	chr17	82085510	.	G	A	935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.614;SOR=0.725	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	0
chr17	82193983	82193983	G	A	exonic	CCDC57	.	nonsynonymous SNV	CCDC57:NM_198082:exon5:c.C775T:p.R259W,CCDC57:NM_001316321:exon6:c.C775T:p.R259W	.	429	1091	2	0	0	2	0.000915751	0.0009	0.09	.	2338839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0220442540263	0.0007	.	0.0003	0.0006	0.0003	0	0	0.0003	0	6.5e-05	0.0002264	35	154602	rs201633568	0.0001	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0006	0.0003	0.0007	0	3.942e-05	0.0017	0.0001	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0005	0	0.0007	0.0006	0	0	0	0.0002	0.0005	0	0.037	0.45393	D	0.063	0.45110	T	0.271	0.31796	B	0.05	0.25278	B	0.001184	0.39899	N	0.109437	0.960858	0.26130	N	1.415	0.35607	L	2.74	0.29602	T	-5.31	0.84457	D	0.413	0.45331	-1.0967	0.04514	T	0.051	0.21767	T	10	0.05852261	0.06893	T	0.022044	0.44897	T	0.119	0.33137	.	.	0.523444149082	0.51990	0.35333337391198155	0.35247	0.186577767987	0.20968	0.427370071411	0.28850	T	0.107896	0.42048	T	-0.411814	0.01933	T	-0.460569	0.26537	T	0.0383882155535584	0.03402	T	0.794321	0.43637	T	0.12426074	0.29159	0.15081394	0.35553	0.12426074	0.29159	0.15081394	0.35552	-9.349	0.71375	D	.	.	0.174	0.38043	B	.;.;.	.;.;.	3.008639	0.40229	21.1	0.9091691132060149	0.20165	0.78298	0.38608	D	AEFDBI	0.350027	0.44362	N	-0.58405523067426	0.19429	1.01677	-0.548579585545615	0.20843	1.124874	0.999950127730628	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	8.03E-4	0.00125	3	0.635551	0.53088	0	.	.	4.54	1.21	0.20240	1.494000	0.35225	2.911000	0.35508	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0984:0.0:0.5501:0.3515	5.404	0.15612	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	400.83	20	chr17	82193983	.	G	A	400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.22;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	5	0	1	0
chr17	82520042	82520042	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon1:c.C154T:p.R52C	.	472	1044	6	0	0	6	0.00286533	.	.	.	610472	not_provided|Premature_ovarian_insufficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.63785358001	0.0044	0.00199681	0.0038	0.0015	0.0032	0	0.0018	0.0055	0.0072	0.0016	0.0031759	491	154602	rs146516291	0.0047	0.0046	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0052	0.0012	0.0036	0.0030	3.166e-05	0.0018	0.0036	0.0053	0.0047	0.0021	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0057	0.0053	0.0010	0	0.0068	0.0044	0	0.0024	0	0.0054	0.0015	0.0015	0.047	0.40319	D	0.112	0.37037	T	0.999	0.77913	D	0.772	0.56930	P	0.000003	0.62929	U	0.000000	0.999843	0.49770	D	0.895	0.22405	L	1.25	0.36512	T	-3.09	0.63438	D	0.344	0.38541	-1.1021	0.03846	T	0.067	0.27468	T	10	0.008000493	0.00182	T	0.637854	0.96906	D	0.234	0.53644	.	.	0.479466957844	0.47577	0.8517850827362373	0.85140	2.50374879105	0.97662	0.817937076092	0.84712	D	0.53292	0.83869	D	0.0309919	0.55856	T	0.27297	0.86740	D	0.0352724272889134	0.02855	T	0.927407	0.73262	D	0.2886949	0.51870	0.21817738	0.46511	0.2886949	0.51870	0.21817738	0.46510	-10.567	0.77231	D	.	.	0.774	0.76121	P	.	.	4.123439	0.61646	24.4	0.99873166464470431	0.95076	0.34924	0.25182	N	AEFDBHCI	0.397623	0.47362	N	0.0443036584654081	0.43881	2.672473	-0.0157698715275802	0.39002	2.306035	0.999999967480258	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.51	1.46	0.21769	3.040000	0.49489	3.156000	0.36547	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.1701:0.7359:0.0:0.094	7.124	0.24641	.	.	Forkhead-associated (FHA) 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	0.004028	0.010101	0.006793	0.005882	0.000000	0.000000	0.003049	0.003788	0.08333	198.83	33	chr17	82520042	.	C	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=153;ExcessHet=0;FS=3.419;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=-1.431;SOR=1.483	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,705	5	0	1	0
chr17	82587083	82587083	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.G1597A:p.A533T	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0658923583185	0.0002	0.000798722	0.0004	0.0002	8.666e-05	0.0017	0.0002	0.0003	0	0.0007	0.0004528	70	154602	rs148364834	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	9.041e-05	0.0002	3.89e-05	0.0015	0.0002	0.0011	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	0.0002	0	0.0004	0	0.0023	9.463e-05	0	0.0002	0.0005	0.0004	0.88	0.02544	T	0.917	0.02899	T	0.181	0.29111	B	0.011	0.15521	B	0.009087	0.30522	N	0.338971	0.966278	0.38520	D	0.46	0.12951	N	-3.2	0.93231	D	-0.24	0.10833	N	0.277	0.31365	-0.1305	0.79390	T	0.521	0.82124	D	10	0.013940066	0.00294	T	0.065892	0.69714	D	0.442	0.74518	.	.	0.968907293267	0.96856	0.27740223095715877	0.27653	0.0545434322568	0.06037	0.485513865948	0.36817	T	0.063997	0.32320	T	-0.0849661	0.38903	T	0.101811	0.77028	D	0.00976326052164641	0.00128	T	0.750125	0.37153	T	0.022776237	0.00965	0.047254138	0.06766	0.022776237	0.00965	0.047254138	0.06765	-3.709	0.19451	T	.	.	0.066	0.02091	B	.	.	2.323136	0.29754	18.22	0.63755245477631717	0.07308	0.98712	0.85893	D	AEFBI	0.671936	0.63851	D	-0.505003639389391	0.21917	1.166687	-0.409483449547961	0.24719	1.355196	0.982658292096952	0.30434	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.21	0.48984	5.655000	0.67652	5.143000	0.47720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0738:0.0:0.9262:0.0	13.68	0.61956	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1638.83	118	chr17	82587083	.	G	A	1638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=416;ExcessHet=0;FS=2.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.871;SOR=0.467	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	5	0	1	0
chr17	82831587	82831587	G	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C868A:p.P290T	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0257778068649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.999	0.77913	D	0.951	0.68939	D	0.000124	0.49741	D	0.085250	1	0.81001	D	1.83	0.48079	L	2.61	0.13095	T	-3.62	0.69593	D	0.513	0.54409	-1.0495	0.14537	T	0.094	0.35738	T	9	0.45234627	0.58777	T	0.025778	0.48731	D	0.178	0.44724	0.322	0.30226	0.15499578495	0.15088	0.341381066199208	0.34051	0.570514662331	0.53208	0.434681653976	0.29849	T	0.080468	0.36369	T	-0.0812956	0.39504	T	-0.354552	0.38683	T	0.958997488021851	0.65417	D	0.833117	0.50161	T	0.14138332	0.32580	0.16986768	0.39053	0.14138332	0.32579	0.16986768	0.39052	-3.641	0.18452	T	.	.	0.088	0.11510	B	.	.	2.436807	0.31360	18.72	0.9966369993632288	0.78138	0.95130	0.63548	D	AEFDBI	.	.	.	0.40268191286888	0.61569	4.359877	0.314049879837559	0.56363	3.799684	0.999907269638349	0.45458	0.580535	0.33130	0	0.446627	0.06534	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	5.34	4.35	0.51454	3.533000	0.53317	3.443000	0.38394	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1435:0.8565:0.0	14.959	0.70791	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1919.83	75	chr17	82831587	.	G	T	1919.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.601;DP=354;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.75;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	5	0	1	0
chr17	82941437	82941437	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.G3518A:p.R1173H	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1086	6	0	0	6	0.00275482	.	.	.	727614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00692511172022	0.0022	0.00159744	0.0046	0.0009	0.0009	0	0.0055	0.0060	0	0.0054	0.0030336	469	154602	rs188081246	0.0038	0.0039	0.0038	0.0039	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0006	0	0.0001	0.0035	0.0024	0.0043	0.0028	0.0041	0.0025	0.0025	0.0025	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0010	0	0.0007	0.0003	0	0.0017	0	0.0041	0.0005	0.0058	0.61	0.05468	T	0.316	0.20037	T	0.021	0.18474	B	0.003	0.08700	B	0.003407	0.34985	N	0.250761	0.56329	0.31239	N	1.905	0.50856	L	2.26	0.22678	T	-0.89	0.24026	N	0.078	0.14196	-1.0286	0.20908	T	0.024	0.10058	T	9	0.00836581	0.00190	T	0.006925	0.18317	T	0.031	0.07369	.	.	0.333906830038	0.33007	0.15779743651091782	0.15700	0.360914283252	0.37751	0.278453350067	0.07278	T	0.026801	0.19761	T	-0.568064	0.00227	T	-0.584616	0.14135	T	0.00520182746446725	0.00056	T	0.872413	0.57909	D	0.019906789	0.00533	0.023560254	0.00369	0.02408161	0.01205	0.026416073	0.00730	-5.708	0.43765	T	0.1685342875303827	0.21079	0.066	0.10642	B	.;.;.	.;.;.	1.079337	0.14625	11.18	0.95133648036115215	0.26247	0.26430	0.22990	N	AEFDBI	0.112383	0.22215	N	-0.746140124865356	0.14738	0.7367289	-0.73863587020575	0.16002	0.8444263	0.021787181436635	0.13378	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	-2.5	0.06015	-0.107000	0.10843	0.218000	0.16040	0.676000	0.76740	0.846000	0.30379	0.004000	0.18990	0.202000	0.21954	0.4168:0.0:0.4492:0.134	5.443	0.15819	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003543	0.000000	0.005435	0.008824	0.000000	0.000000	0.000000	0.000000	0.08333	856.83	34	chr17	82941437	.	G	A	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.71;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.237;SOR=0.7	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	5	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	88.12	43	chr18	669146	.	A	G	88.12	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.204;DP=390;ExcessHet=0.4139;FS=154.922;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.219;SOR=7.427	GT:AD:DP:GQ:PL	0/1:72,13:85:4:4,0,1486	3	0	2	1
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	59.7	26	chr18	2732448	.	G	A	59.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.132;DP=257;ExcessHet=0;FS=64.771;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=2.11;SOR=6.183	GT:AD:DP:GQ:PL	./.:42,0:42:0:0,0,760	4	0	1	1
chr18	6965342	6965342	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.C7141T:p.R2381C	Poretti-Boltshauser syndrome, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	704663	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.479	0.0417537146561	0.0012	0.00279553	0.0024	0.0004	0.0009	0	0	0.0023	0.0044	0.0075	0.0024838	384	154602	rs142063208	0.0028	0.0028	0.0026	0.0030	0.0082	0.0027	0.0027	0.0077	0.0075	0.0005	0.0010	7.652e-05	5.038e-05	0.0004	0.0033	0.0028	0.0023	0.0082	0.0017	0.0017	0.0017	0.0016	0.0070	0.0015	0.0015	0.0052	0.0045	0.0006	0	0.0020	0	0.0002	0.0005	0	0.0023	0.0024	0.0070	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.000251	0.46924	D	0.144445	0.999987	0.54805	D	3.235	0.89610	M	-1.08	0.77078	T	-5.51	0.85921	D	0.734	0.73465	0.264	0.86976	D	0.603	0.85894	D	10	0.016408682	0.00346	T	0.041754	0.60099	D	0.479	0.77012	.	.	0.895094079211	0.89405	0.5673563880096925	0.56663	0.61600168912	0.56077	0.489292055368	0.37339	T	0.531587	0.83800	D	-0.115198	0.33911	T	0.067018	0.74711	D	0.128730265391643	0.15264	T	0.854814	0.54193	D	0.34251603	0.56479	0.45183823	0.68109	0.28303096	0.51337	0.4219648	0.66113	-11.508	0.82372	D	0.7391288558217808	0.82112	0.306	0.53495	B	.	.	5.264119	0.88388	29.6	0.99940578074191	0.99767	0.94786	0.62325	D	AEFBI	0.765320	0.70184	D	0.859237228385765	0.89628	10.05011	0.83897627390301	0.92355	11.37934	0.999998149110575	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.366000	0.59265	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.879	0.99870	865	0.32612	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.08333	994.83	39	chr18	6965342	.	G	A	994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=293;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.439;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	0	1	0
chr18	9258053	9258053	G	T	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.G4717T:p.A1573S,ANKRD12:NM_001204056:exon8:c.G4717T:p.A1573S,ANKRD12:NM_015208:exon9:c.G4786T:p.A1596S	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00725114305088	.	.	8.27e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs376041175	3.422e-06	4.104e-06	0	6.879e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.573e-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	0.127	0.27080	T	0.547	0.09522	T	0.0	0.02946	B	0.001	0.08700	B	0.376610	0.04394	N	1.359150	1	0.08975	N	0.46	0.12951	N	0.46	0.56281	T	-0.07	0.08033	N	0.087	0.10340	-1.0504	0.14285	T	0.094	0.35684	T	10	0.03224501	0.01372	T	0.007251	0.19225	T	0.089	0.25827	0.156	0.05964	0.255117706274	0.25116	0.027521963216300013	0.02702	.	.	0.225928038359	0.01681	T	0.003116	0.02515	T	-0.174988	0.24484	T	-0.489134	0.23482	T	0.0183514450141867	0.00553	T	0.564644	0.19916	T	0.023772668	0.01146	0.028798494	0.01150	0.023772668	0.01146	0.028798494	0.01150	-2.253	0.04305	T	.	.	0.076	0.06990	B	.;.	.;.	-0.549729	0.01715	0.126	0.94957923065482064	0.25871	0.10038	0.15652	N	AEFBI	0.053042	0.09522	N	-0.855524918381534	0.11915	0.5777152	-0.822215055892859	0.13957	0.726844	0.57211584574529	0.21501	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.29	1.39	0.21325	0.159000	0.16258	0.373000	0.17698	-0.103000	0.15852	0.042000	0.21073	0.000000	0.08366	0.940000	0.48062	0.2609:0.1091:0.5179:0.1121	3.041	0.05767	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1436.83	42	chr18	9258053	.	G	T	1436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.552;DP=293;ExcessHet=0;FS=2.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-1.656;SOR=0.963	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1228	5	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	36132.4	408	chr18	9887397	.	C	*	36132.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2619;ExcessHet=0;FS=0.787;MLEAC=2;MLEAF=0.2;MQ=58.83;MQRankSum=2.47;QD=19.7;ReadPosRankSum=0.022;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:410:99:10519,10604,10995	3	0	2	1
chr18	10485718	10485718	G	A	exonic	APCDD1	.	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.G1031A:p.R344Q	Hypotrichosis 1	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00770162764219	.	.	3.321e-05	0	8.682e-05	0	0	4.519e-05	0	0	3.23e-05	5	154602	rs754691351	7.525e-05	7.524e-05	7.487e-05	7.563e-05	0.0031	6.382e-05	5.939e-05	0.0020	0.0017	2.987e-05	0.0001	0	2.519e-05	0	0.0031	7.374e-05	3.311e-05	1.159e-05	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.715e-05	1.129e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.365	0.11732	T	0.39	0.15506	T	0.003	0.11197	B	0.005	0.11217	B	0.078568	0.21035	N	0.493760	1	0.81001	D	1.59	0.40313	L	1.9	0.23486	T	-0.2	0.10136	N	0.336	0.37717	-1.0403	0.17223	T	0.028	0.11971	T	10	0.13209313	0.25140	T	0.007702	0.20431	T	0.015	0.02232	0.349	0.34598	0.17948927462	0.17512	0.2579605874646184	0.25710	0.342277123456	0.36164	0.264416664839	0.05429	T	0.022054	0.17072	T	-0.370105	0.03588	T	-0.572435	0.15228	T	0.047589689249195	0.05071	T	0.856014	0.54441	D	0.028003328	0.02073	0.039030403	0.03904	0.028003328	0.02073	0.039030403	0.03904	-6.287	0.48619	T	0.2035705135316725	0.27108	0.080	0.07697	B	.	.	2.760877	0.36214	20.2	0.99854900995416296	0.93368	0.67981	0.33631	D	AEFDBI	0.179350	0.30664	N	-0.562545185293103	0.20091	1.05664	-0.409932213824854	0.24706	1.354411	0.998349839506951	0.36796	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.77	0.555	0.16436	1.156000	0.31323	5.569000	0.48938	0.676000	0.76740	0.858000	0.30578	1.000000	0.68203	0.957000	0.51019	0.6069:0.0:0.3931:0.0	7.079	0.24400	865	0.32612	APCDD1 domain|APCDD1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1735.83	155	chr18	10485718	.	G	A	1735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.58;DP=340;ExcessHet=0;FS=0.61;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.929;SOR=0.769	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr18	10540396	10540396	G	A	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G503A:p.R168H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0696154579722	0.0003	0.000998403	0.0009	0.0002	0.0014	0	0	0.0013	0.0034	0.0002	0.0008344	129	154602	rs143915056	0.0008	0.0008	0.0007	0.0008	0.0066	0.0007	0.0007	0.0049	0.0044	0.0006	0.0011	0.0106	0	5.65e-05	0.0066	0.0006	0.0014	0.0003	0.0006	0.0006	0.0007	0.0004	0.0007	0.0005	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0089	0	0	0	0.0005	0.0009	0.0004	0.036	0.43393	D	0.106	0.37872	T	0.983	0.60381	D	0.497	0.47562	P	0.000017	0.62929	D	0.187435	0.999999	0.58761	D	1.935	0.51832	L	-1.01	0.76168	T	-1.67	0.39887	N	0.423	0.46274	-0.2243	0.77037	T	0.422	0.76704	T	10	0.010468781	0.00233	T	0.069615	0.70777	D	0.240	0.54500	.	.	0.882464406444	0.88130	0.5444775080861449	0.54373	0.432589321171	0.43428	0.701806128025	0.67405	T	0.045664	0.27191	T	-0.241383	0.15173	T	-0.165058	0.57895	T	0.0822120010852814	0.10268	T	0.948405	0.80130	D	0.05393279	0.10277	0.076638035	0.16992	0.05393279	0.10276	0.076638035	0.16992	-6.379	0.49345	T	.	.	0.086	0.10787	B	.	.	4.296700	0.65572	24.8	0.99949895232128616	0.99938	0.97678	0.76352	D	AEFBI	0.671893	0.63848	D	0.602898797869393	0.73357	5.95301	0.671260098904856	0.80201	7.246884	0.999999952243803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	5.700000	0.67974	7.465000	0.59093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	20.404	0.99007	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.020468	0.000000	0.008621	0.006098	0.000000	0.08333	390.83	33	chr18	10540396	.	G	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=233;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.218;SOR=0.532	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr18	10784844	10784844	C	G	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon17:c.G2432C:p.R811P,PIEZO2:NM_022068:exon17:c.G2432C:p.R811P	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.012513485835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.609e-06	3.42e-06	2.85e-06	4.389e-06	4.634e-06	1.06e-06	7.7e-07	1.36e-06	9.9e-07	0	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.05844	T	0.789	0.04260	T	0.991	0.64070	D	0.866	0.61580	P	0.329383	0.14139	U	0.519754	0.977794	0.39400	D	0.835	0.21042	L	3.71	0.04046	T	1.78	0.00525	N	0.349	0.41459	-1.0033	0.28963	T	0.017	0.07140	T	10	0.16513905	0.30876	T	0.012513	0.31146	T	0.232	0.53354	0.568	0.69034	0.138757226776	0.13463	0.7186279240829311	0.71805	0.996775684787	0.74260	0.642878651619	0.58974	T	0.002824	0.03768	T	0.0429338	0.57428	T	-0.176105	0.56882	T	0.601510297826111	0.36460	D	0.851815	0.57574	D	0.09974265	0.23543	0.19582626	0.43281	0.09974265	0.23542	0.19582626	0.43280	-5.517	0.43924	T	0.2620120011300802	0.35365	0.486	0.63923	A	.;.;.;.	.;.;.;.	3.495510	0.48878	22.7	0.96145676161906812	0.28850	0.31683	0.24399	N	AEFBHCI	0.707846	0.66245	D	-0.0074110020009423	0.41520	2.484898	0.0193157378792987	0.40613	2.426527	0.9999899017307	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.650271	0.49498	0	0.638833	0.57524	0	.	.	5.35	4.46	0.53567	0.008000	0.13095	-0.459000	0.09050	-0.177000	0.10537	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.0:0.9259:0.0:0.0741	13.784	0.62585	799	0.44747	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	440.83	33	chr18	10784844	.	C	G	440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=219;ExcessHet=0;FS=4.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.084;SOR=1.258	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1301	5	0	1	0
chr18	12277151	12277151	G	A	exonic	CIDEA	.	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.G541A:p.A181T,CIDEA:NM_001318383:exon5:c.G643A:p.A215T	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0170247334183	0.0032	0.000798722	0.0021	0.0007	0.0008	0	0.0006	0.0029	0.0022	0.0026	0.0023738	367	154602	rs115278913	0.0036	0.0036	0.0036	0.0035	0.0041	0.0035	0.0034	0.0040	0.0040	0.0006	0.0008	0.0014	2.519e-05	0.0020	0.0023	0.0041	0.0031	0.0023	0.0025	0.0024	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0006	0.0175	0.0010	0.0014	0	0.0018	0	0.0041	0.0014	0.0025	0.088	0.32296	T	0.022	0.57587	D	1.0	0.90584	D	0.996	0.84481	D	0.000173	0.48594	N	0.135969	0.999259	0.46462	D	2.175	0.60977	M	-1.24	0.78967	T	-0.86	0.23372	N	0.232	0.26111	0.116	0.84461	D	0.574	0.84599	D	10	0.011509091	0.00251	T	0.017025	0.38558	T	0.407	0.71946	.	.	0.63955945867	0.63658	0.3365839814280524	0.33571	0.0989611105025	0.11181	0.371055006981	0.20983	T	0.141378	0.47641	T	-0.265868	0.12221	T	-0.150112	0.59234	T	0.0298699351061735	0.01970	T	0.673733	0.28234	T	0.052613948	0.09838	0.098015755	0.23352	0.052613948	0.09837	0.098015755	0.23351	-3.701	0.19333	T	.	.	0.097	0.15609	B	.	.	2.399263	0.30823	18.55	0.99857333442822738	0.93639	0.76498	0.37522	D	AEFDGBI	0.062109	0.11917	N	0.327373623061769	0.57556	3.923553	0.206437788681891	0.50203	3.214945	0.999999990433295	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.613276	0.41899	0	.	.	4.87	3.99	0.45527	2.297000	0.43254	2.595000	0.33490	0.676000	0.76740	0.985000	0.35982	0.997000	0.33255	0.658000	0.32913	0.1024:0.0:0.8976:0.0	9.062	0.35603	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1115.83	34	chr18	12277151	.	G	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.161;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.305;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	5	0	1	0
chr18	13116385	13116385	A	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon43:c.A7298G:p.D2433G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00941870165092	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459419786	4.11e-06	4.104e-06	1.363e-06	6.886e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.02	0.58613	D	.	.	.	.	.	.	0.002763	0.35968	N	0.293295	0.999965	0.18878	N	.	.	.	3.31	0.06291	T	-2.83	0.59710	D	0.494	0.52740	-1.0503	0.14313	T	0.023	0.09878	T	10	0.3818214	0.54250	T	0.009419	0.24693	T	0.137	0.36984	.	.	0.449474494731	0.44571	0.45428174925077996	0.45346	0.367735961394	0.38336	0.341391682625	0.16647	T	0.082873	0.36927	T	-0.0917946	0.37780	T	-0.369633	0.36932	T	0.951705873012543	0.63622	D	0.70183	0.31167	T	0.13916868	0.32158	0.1021993	0.24488	0.13916868	0.32157	0.1021993	0.24488	-3.739	0.19895	T	.	.	0.102	0.17869	B	.;.	.;.	1.727586	0.21986	15.43	0.99178137229410157	0.54585	0.85216	0.44329	D	AEFBI	0.480731	0.52233	N	-0.0229241201889724	0.40818	2.430703	-0.0379634348559805	0.38015	2.233791	0.998999497677086	0.38161	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	3.261000	0.51233	5.778000	0.49786	-0.181000	0.10308	0.978000	0.35038	1.000000	0.68203	0.004000	0.06068	1.0:0.0:0.0:0.0	14.280	0.65753	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	987.06	24	chr18	13116385	.	A	G	987.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=211;ExcessHet=0.4139;FS=4.204;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.049;SOR=1.196	GT:AD:DP:GQ:PL	0/1:30,14:44:99:315,0,751	4	0	2	0
chr18	13645559	13645559	G	A	exonic	LDLRAD4	.	nonsynonymous SNV	LDLRAD4:NM_001003675:exon3:c.G658A:p.A220T,LDLRAD4:NM_001276251:exon3:c.G529A:p.A177T,LDLRAD4:NM_001003674:exon4:c.G712A:p.A238T,LDLRAD4:NM_001276249:exon4:c.G592A:p.A198T,LDLRAD4:NM_001378098:exon6:c.G823A:p.A275T,LDLRAD4:NM_001378101:exon6:c.G769A:p.A257T,LDLRAD4:NM_181482:exon6:c.G769A:p.A257T,LDLRAD4:NM_001378099:exon7:c.G823A:p.A275T,LDLRAD4:NM_001378100:exon7:c.G823A:p.A275T,LDLRAD4:NM_181481:exon7:c.G823A:p.A275T	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00219655202495	0.0003	0.000199681	0.0006	0	0	0	0.0003	0.0004	0	0.0033	0.0004916	76	154602	rs145573407	0.0004	0.0004	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	6.01e-05	0	3.907e-05	2.522e-05	7.534e-05	0.0005	0.0004	0.0005	0.0022	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	4.811e-05	0	0	0.0003	0	9.422e-05	0	0.0004	0.0005	0.0025	0.366	0.11696	T	0.369	0.18125	T	0.004	0.12996	B	0.001	0.04355	B	0.654604	0.05943	N	1.166650	1	0.08975	N	0.17	0.09006	N	1.72	0.44461	T	-0.66	0.19085	N	0.044	0.15046	-0.9337	0.43590	T	0.034	0.14726	T	10	0.0040359497	0.00078	T	0.002197	0.04151	T	0.058	0.16647	.	.	0.0762999501168	0.06990	0.17128612345462485	0.17048	.	.	0.32985958457	0.14913	T	0.014178	0.12117	T	-0.632869	0.00092	T	-0.688016	0.06504	T	0.00671076003159661	0.00075	T	0.616038	0.25461	T	0.015713913	0.00154	0.034457814	0.02516	0.015713913	0.00153	0.034457814	0.02516	-3.208	0.13932	T	.	.	0.061	0.01577	B	.;.;.;.;.;.	.;.;.;.;.;.	0.024419	0.04454	1.176	0.57962666815720598	0.05885	0.27758	0.23366	N	AEFDBI	0.096934	0.19560	N	-1.53124891716467	0.01647	0.07205335	-1.57269422150639	0.01824	0.08309764	0.999248203937746	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.62	-6.28	0.01844	0.322000	0.19323	-0.501000	0.08802	-0.739000	0.03678	0.061000	0.21800	0.000000	0.08366	0.016000	0.10718	0.5503:0.0:0.3615:0.0882	10.066	0.41479	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	568.83	35	chr18	13645559	.	G	A	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.109;DP=249;ExcessHet=0;FS=6.54;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0.282;SOR=1.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	5	0	1	0
chr18	13746298	13746298	T	A	exonic	RNMT	.	nonsynonymous SNV	RNMT:NM_001378132:exon8:c.T684A:p.N228K,RNMT:NM_001378134:exon8:c.T1218A:p.N406K,RNMT:NM_001378135:exon8:c.T1218A:p.N406K,RNMT:NM_001308263:exon9:c.T1218A:p.N406K,RNMT:NM_003799:exon9:c.T1218A:p.N406K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00284342970162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.05899	T	0.916	0.02917	T	0.014	0.16867	B	0.02	0.19048	B	0.013786	0.28730	N	0.428927	0.66627	0.33099	D	-0.625	0.02162	N	.	.	.	-0.94	0.25118	N	0.291	0.33140	-0.9754	0.36037	T	0.024	0.10239	T	9	0.0581685	0.06798	T	0.002843	0.05956	T	0.094	0.27141	0.415	0.45380	0.261217442401	0.25729	0.33841462012339785	0.33754	0.285941018328	0.31003	0.441241592169	0.30746	T	0.024338	0.18409	T	-0.244371	0.14796	T	-0.588798	0.13769	T	0.142745152115822	0.16509	T	0.80282	0.44919	T	0.17397603	0.38175	0.11765705	0.28401	0.17397603	0.38175	0.11765705	0.28401	-7.303	0.56217	T	.	.	0.120	0.36889	B	.;.;.;.;.	.;.;.;.;.	1.700623	0.21659	15.30	0.83049473681918529	0.14515	0.79351	0.39304	D	AEFGBI	0.092879	0.18799	N	-0.796120001259072	0.13411	0.6604495	-0.56706654028791	0.20354	1.096247	0.836610804700243	0.24790	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	0.914	0.18488	0.504000	0.22335	-0.065000	0.12373	-0.165000	0.11486	0.998000	0.41325	0.002000	0.18203	0.997000	0.79791	0.0:0.2066:0.2046:0.5888	6.238	0.19985	707	0.57054	mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;.;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase 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	.	.	.	.	.	.	.	.	0.1667	1219.06	33	chr18	13746298	.	T	A	1219.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=252;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.12;SOR=0.62	GT:AD:DP:GQ:PL	0/1:41,32:73:99:762,0,976	4	0	2	0
chr18	13826679	13826679	C	T	exonic	MC5R	.	nonsynonymous SNV	MC5R:NM_005913:exon2:c.C914T:p.T305I	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0206561591075	0.0047	0.00239617	0.0058	0.0009	0.0042	0	0.0085	0.0075	0.0089	0.0047	0.0055497	858	154602	rs143262370	0.0058	0.0058	0.0056	0.0059	0.0062	0.0057	0.0056	0.0057	0.0056	0.0013	0.0048	0.0115	2.519e-05	0.0102	0.0062	0.0058	0.0062	0.0057	0.0054	0.0054	0.0054	0.0053	0.0068	0.0051	0.0050	0.0063	0.0061	0.0011	0.0658	0.0050	0.0121	0	0.0090	0.0034	0.0068	0.0057	0.0052	0.017	0.51248	D	0.021	0.58089	D	0.992	0.64738	D	0.776	0.57120	P	0.000000	0.84330	D	0.048357	1	0.81001	D	3.315	0.90654	M	1.12	0.38718	T	-4.53	0.78388	D	0.317	0.35727	-0.6575	0.62386	T	0.163	0.49864	T	10	0.0105730295	0.00235	T	0.020656	0.43298	T	0.299	0.61955	.	.	0.839078506627	0.83754	.	.	0.422540009759	0.42749	0.426244556904	0.28695	T	0.399957	0.75766	T	-0.389481	0.02712	T	-0.324562	0.42071	T	0.0740934471101654	0.09214	T	0.981602	0.93790	D	0.41131297	0.61508	0.33625132	0.59430	0.41131297	0.61509	0.33625132	0.59429	-9.566	0.71269	D	.	.	0.776	0.76201	P	.;.	.;.	2.352695	0.30161	18.35	0.99712454656348337	0.81423	0.90131	0.51070	D	AEFDGBI	0.597263	0.59111	D	0.343357853769847	0.58388	4.010891	0.259676189149719	0.53201	3.490317	1.0	0.98316	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.58	4.58	0.56077	2.619000	0.46066	2.174000	0.31077	-0.240000	0.07525	0.983000	0.35670	0.659000	0.26006	0.027000	0.12703	0.0:1.0:0.0:0.0	17.722	0.88260	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1100.83	39	chr18	13826679	.	C	T	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.813;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-1.16;SOR=0.78	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	589.03	33	chr18	14513679	.	T	G	589.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.66;DP=539;ExcessHet=1.383;FS=10.147;MLEAC=3;MLEAF=0.25;MQ=50.73;MQRankSum=-7.677;QD=1.38;ReadPosRankSum=-2.477;SOR=1.638	GT:AD:DP:GQ:PL	0/1:150,20:170:99:116,0,3776	3	0	3	0
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	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	1264.83	33	chr18	14513787	.	T	C	1264.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.592;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.38;MQRankSum=-0.174;QD=14.71;ReadPosRankSum=-1.23;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr18	22200696	22200696	A	G	exonic	GATA6	.	nonsynonymous SNV	GATA6:NM_005257:exon7:c.A1661G:p.N554S	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0576369804182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.04643	T	0.95	0.02617	T	0.002	0.09854	B	0.001	0.04355	B	0.006655	0.31890	N	0.380726	0.765485	0.29493	N	-0.56	0.02328	N	-4.44	0.97515	D	-0.8	0.22078	N	0.045	0.06990	-0.2703	0.75803	T	0.524	0.82240	D	10	0.10022405	0.18238	T	0.057637	0.67035	D	0.299	0.61955	0.205	0.12076	0.672852936461	0.67008	0.11423656979175414	0.11351	.	.	0.416627347469	0.27373	T	0.315248	0.68687	T	-0.068617	0.41549	T	-0.33634	0.40758	T	0.215276792645454	0.21226	T	0.728227	0.34274	T	0.024131808	0.01215	0.02422599	0.00439	0.024131808	0.01215	0.02422599	0.00439	-0.892	0.00887	T	0.227093459302262	0.30698	0.061	0.01645	B	.;.	.;.	1.743582	0.22184	15.52	0.77750500033023773	0.12006	0.71000	0.34826	D	AEFDGBIJ	0.206465	0.33272	N	-0.735817083346902	0.15021	0.7533679	-0.510406996926226	0.21870	1.185181	0.999999817199528	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.91	3.52	0.39415	4.605000	0.60825	3.879000	0.40229	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.964000	0.52637	0.4404:0.3093:0.2504:0.0	2.249	0.03791	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	966.83	91	chr18	22200696	.	A	G	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.136;DP=265;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.175;SOR=0.598	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	5	0	1	0
chr18	23601272	23601272	C	T	exonic	ANKRD29	.	nonsynonymous SNV	ANKRD29:NM_001308238:exon9:c.G761A:p.R254H,ANKRD29:NM_173505:exon10:c.G860A:p.R287H	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.013438856657	0.0018	0.00139776	0.0018	0.0006	0.0016	0.0002	0	0.0020	0.0066	0.0031	0.001727	267	154602	rs143279851	0.0019	0.0019	0.0017	0.0020	0.0324	0.0018	0.0018	0.0286	0.0272	0.0007	0.0028	0.0025	2.52e-05	0.0001	0.0324	0.0016	0.0039	0.0031	0.0020	0.0020	0.0018	0.0022	0.0053	0.0018	0.0018	0.0044	0.0040	0.0005	0	0.0053	0.0029	0	0.0002	0.0479	0.0021	0.0061	0.0046	.	.	.	0.186	0.28860	T	0.066	0.26116	B	0.01	0.19966	B	0.000148	0.49130	N	0.217301	0.99043	0.41774	D	0.485	0.13215	N	0.2	0.68329	T	.	.	.	0.093	0.16308	-1.0412	0.16951	T	0.086	0.33522	T	10	0.003341049	0.00058	T	0.013439	0.32845	T	0.036	0.09122	.	.	0.434160288164	0.43035	0.6621810322012781	0.66155	0.861703014694	0.68993	0.293593078852	0.09449	T	0.016855	0.13851	T	-0.504587	0.00539	T	-0.500631	0.22282	T	0.0272328357487026	0.01577	T	0.847115	0.52772	T	0.055065364	0.10651	0.04435256	0.05729	0.055065364	0.10650	0.04435256	0.05728	-4.316	0.28400	T	.	.	0.176	0.38462	B	.;.	.;.	1.876110	0.23830	16.17	0.9670629043199368	0.30795	0.05600	0.11505	N	AEFBI	0.070855	0.14081	N	-0.613046999935828	0.18551	0.9640484	-0.530462593776473	0.21327	1.153236	0.868652186960861	0.25369	0.549168	0.22868	0	0.588066	0.40923	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.96	2.21	0.27042	0.241000	0.17843	-0.212000	0.10844	0.599000	0.40250	0.230000	0.24643	0.000000	0.08366	0.996000	0.76049	0.0:0.6724:0.0:0.3276	7.571	0.27071	506	0.75555	Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030211	0.030303	0.028533	0.061404	0.000000	0.051724	0.015244	0.003788	0.08333	1184.83	33	chr18	23601272	.	C	T	1184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.165;DP=261;ExcessHet=0;FS=0.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.374;SOR=0.602	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1219	5	0	1	0
chr18	23836998	23836998	C	T	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon25:c.C3002T:p.A1001V,LAMA3:NM_198129:exon25:c.C3002T:p.A1001V	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	760691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.00519169	0.0029	0	0	0.0001	0.0002	1.501e-05	0.0022	0.0209	0.002445	378	154602	rs201043541	0.0012	0.0012	0.0007	0.0018	0.0193	0.0012	0.0012	0.0186	0.0183	0.0001	0	0	2.519e-05	0	0.0005	3.148e-05	0.0014	0.0193	0.0007	0.0007	0.0003	0.0011	0.0205	0.0006	0.0005	0.0172	0.0160	7.218e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0205	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.53	0.14160	T	1.12	0.01197	N	0.125	0.12627	-0.9430	0.42137	T	0.010	0.03811	T	9	0.0031779408	0.00053	T	.	.	.	0.080	0.23350	0.218	0.13932	0.149567049428	0.14543	0.2027050277743863	0.20187	0.118445075444	0.13338	0.247426211834	0.03501	T	0.011054	0.09913	T	-0.765705	0.00014	T	-0.857064	0.00875	T	0.00549003314218104	0.00060	T	0.767123	0.39533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.169082	0.03252	0.551	0.11712263988350595	0.00184	0.01063	0.03945	N	AEFBI	0.039183	0.05656	N	-1.33935797233147	0.03236	0.1442317	-1.27244444320078	0.04807	0.2276251	0.989087209515111	0.31718	0.646311	0.45356	0	0.547309	0.14657	0	0.602189	0.34648	0	0.699875	0.68795	0	.	.	5.74	-0.644	0.10902	0.098000	0.15027	0.060000	0.14119	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1823:0.0:0.8177	10.305	0.42855	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.022727	0.08333	413.83	33	chr18	23836998	.	C	T	413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.07;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,944	5	0	1	0
chr18	24014931	24014931	-	GCG	exonic	TTC39C	.	nonframeshift insertion	TTC39C:NM_001135993:exon1:c.60_61insGCG:p.A25_P26insA,TTC39C:NM_001243425:exon1:c.60_61insGCG:p.A25_P26insA	.	330	1164	26	1	1	29	0.0118846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	.	0.0062	0	0.0074	0	0	0.0071	0.0083	0.0064	0.0006147	16	26028	rs779205034	0.0018	0.0018	0.0017	0.0020	0.0237	0.0018	0.0017	0.0205	0.0192	0.0006	0.0031	0.0060	0.0002	0.0001	0.0237	0.0014	0.0037	0.0056	0.0021	0.0021	0.0018	0.0023	0.0086	0.0019	0.0018	0.0065	0.0058	0.0004	0	0.0055	0.0066	0	0.0003	0.0451	0.0018	0.0067	0.0086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030928	0.021429	0.000000	0.082192	0.000000	0.000000	0.008197	0.000000	0.08333	917.79	34	chr18	24014931	.	A	AGCG	917.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=221;ExcessHet=0;FS=1.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=1.05;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	5	0	1	0
chr18	24155722	24155722	C	T	exonic	CABYR	.	nonsynonymous SNV	CABYR:NM_153768:exon3:c.C167T:p.T56M,CABYR:NM_012189:exon4:c.C221T:p.T74M,CABYR:NM_138644:exon4:c.C221T:p.T74M,CABYR:NM_153769:exon4:c.C221T:p.T74M,CABYR:NM_153770:exon4:c.C221T:p.T74M	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0018	0.0251597	0.0112	0.0017	0.0006	0.1233	0.0021	0.0021	0.0061	0.0032	0.0098705	1526	154602	rs3786417	0.0061	0.0061	0.0063	0.0060	0.1280	0.0060	0.0060	0.1251	0.1239	0.0005	0.0007	0.0005	0.1280	0.0022	0.0011	0.0026	0.0095	0.0032	0.0064	0.0064	0.0062	0.0066	0.1230	0.0060	0.0059	0.1151	0.1119	0.0012	0	0.0015	0.0006	0.1230	0.0023	0	0.0029	0.0066	0.0046	0.152	0.39575	T	0.028	0.65728	D	0.145	0.36287	B	0.016	0.29098	B	0.232273	0.03526	N	1.513000	0.999999	0.08975	P	0.895	0.22405	L	0.88	0.47130	T	-1.0	0.26422	N	0.044	0.03613	-1.0917	0.05254	T	0.001	0.00318	T	9	0.0018589497	0.00025	T	.	.	.	0.072	0.21020	.	.	.	.	0.12378164559620358	0.12304	0.105695212514	0.11951	0.24882632494	0.03644	T	0.016341	0.13527	T	-0.622122	0.00107	T	-0.55929	0.16442	T	0.000725276635180775	0.00007	T	0.50185	0.16474	T	0.015566247	0.00146	0.033500448	0.02255	0.015566247	0.00145	0.033500448	0.02255	-4.154	0.32109	T	.	.	0.074	0.06571	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.697170	0.01327	0.073	0.76410457729974257	0.11457	0.01680	0.05366	N	AEFBI	0.045851	0.07545	N	-1.41705170204126	0.02489	0.1099707	-1.50599126314891	0.02297	0.1054479	0.100933930499245	0.16365	0.651	0.46895	0	0.610034	0.51514	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.78	-5.64	0.02269	-1.465000	0.02463	-8.318000	0.00990	-0.938000	0.02108	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1127:0.2413:0.2226:0.4234	1.892	0.03052	946	0.12043	.;.;.;.;.;.;.;.;.	.	.	.	.	rs3786417	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	913.83	69	chr18	24155722	.	C	T	913.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.714;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	5	0	1	0
chr18	26151933	26151933	A	G	exonic	PSMA8	.	nonsynonymous SNV	PSMA8:NM_001025096:exon3:c.A305G:p.D102G,PSMA8:NM_001025097:exon3:c.A191G:p.D64G,PSMA8:NM_144662:exon3:c.A323G:p.D108G,PSMA8:NM_001308188:exon4:c.A227G:p.D76G	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0485267053274	0.0059	.	0.0040	0.0012	0.0017	0	0.0008	0.0057	0.0033	0.0042	0.0001537	4	26028	rs150332181	0.0059	0.0060	0.0059	0.0060	0.0071	0.0058	0.0058	0.0069	0.0069	0.0006	0.0012	0.0046	0	0.0011	0.0007	0.0071	0.0042	0.0038	0.0042	0.0042	0.0045	0.0039	0.0071	0.0040	0.0038	0.0066	0.0064	0.0010	0.0384	0.0015	0.0037	0.0002	0.0017	0	0.0071	0.0024	0.0039	0.002	0.72154	D	0.005	0.74150	D	0.926	0.56408	P	0.822	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.92	0.23082	T	-6.36	0.91226	D	0.897	0.89689	-0.7673	0.57006	T	0.131	0.44208	T	10	0.06221643	0.07920	T	0.048527	0.63412	D	0.472	0.76554	.	.	0.493089126863	0.48943	0.5864813114806112	0.58578	0.429692270948	0.43248	0.695400416851	0.66481	T	0.184423	0.53707	T	-0.102252	0.36051	T	0.0897403	0.76228	D	0.0851795077643375	0.10636	T	0.989201	0.96434	D	0.8430733	0.86829	0.75241834	0.85366	0.8430733	0.86830	0.75241834	0.85367	-10.627	0.77573	D	.	.	0.823	0.80024	P	.;.;.;.	.;.;.;.	4.846188	0.79174	27.0	0.99834689549386801	0.91628	0.97800	0.77226	D	AEFI	0.785247	0.71569	D	0.696720196757631	0.79416	7.073284	0.684514964794084	0.81203	7.472081	0.999731560869945	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	5.34	0.75982	3.440000	0.52649	10.707000	0.83601	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.322	0.59875	903	0.23940	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	548.83	33	chr18	26151933	.	A	G	548.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.917;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.93;ReadPosRankSum=0.944;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,915	5	0	1	0
chr18	31469175	31469175	C	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1723T:p.R575W	.	431	1066	24	1	0	26	0.0120482	.	.	.	715941	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0086	0.00459265	0.0067	0.0022	0.0028	0	0.0038	0.0082	0.0099	0.0105	0.0068304	1056	154602	rs61730311	0.0096	0.0096	0.0095	0.0096	0.0110	0.0094	0.0094	0.0106	0.0105	0.0015	0.0029	0.0047	0	0.0037	0.0081	0.0108	0.0087	0.0110	0.0061	0.0061	0.0065	0.0056	0.0116	0.0057	0.0056	0.0092	0.0087	0.0020	0	0.0054	0.0049	0	0.0026	0	0.0096	0.0024	0.0116	0.004	0.65419	D	0.017	0.60337	D	0.952	0.54136	P	0.339	0.42346	B	0.420484	0.04645	N	1.487420	1	0.08975	N	1.7	0.43825	L	0.26	0.59314	T	-2.05	0.47008	N	0.171	0.18239	-0.9773	0.35616	T	0.088	0.34078	T	10	0.015473664	0.00325	T	.	.	.	0.118	0.32913	.	.	0.688633057668	0.68596	0.5235609868025842	0.52280	0.114637252585	0.12932	0.196305915713	0.00357	T	0.298465	0.67102	T	-0.599532	0.00147	T	-0.621639	0.11057	T	0.017832634025567	0.00511	T	0.224178	0.02920	T	0.053436227	0.10111	0.04566627	0.06197	0.053436227	0.10111	0.04566627	0.06196	-9.348	0.69909	D	.	.	0.110	0.21087	B	.	.	1.612265	0.20598	14.82	0.9902769683644721	0.50721	0.09060	0.14890	N	AEFBCI	0.096551	0.19490	N	-0.694827379460152	0.16168	0.8213565	-0.80866395656276	0.14286	0.7456584	0.0610422171583938	0.15217	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	0.463	0.15912	-0.065000	0.11575	-0.343000	0.09801	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5361:0.3006:0.0:0.1633	5.601	0.16633	723	0.55174	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006546	0.000000	0.005435	0.011696	0.000000	0.008621	0.003049	0.015152	0.08333	1088.83	37	chr18	31469175	.	C	T	1088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=281;ExcessHet=0;FS=2.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.288;SOR=0.446	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	390.92	30	chr18	31541297	.	G	A	390.92	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-1.345;DP=224;ExcessHet=0.9691;FS=159.341;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0.904;SOR=7.7	GT:AD:DP:GQ:PL	./.:29,0:29:0:0,0,0	0	0	2	4
chr18	31855737	31855737	T	C	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.A3259G:p.R1087G	.	432	1088	2	0	0	2	0.000918274	.	.	.	2253903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0337157993156	.	.	5.773e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs780252144	1.37e-05	1.368e-05	5.451e-06	2.203e-05	0.0003	8.95e-06	7.27e-06	0.0001	9.507e-05	0	0	0	0	0	0.0003	0	3.315e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.052	0.47581	T	0.863	0.47474	P	0.678	0.53406	P	0.000015	0.62929	D	0.147567	0.921066	0.36679	D	2.24	0.63355	M	2.28	0.17271	T	-3.74	0.71042	D	0.832	0.82761	-1.1381	0.01431	T	0.067	0.27674	T	10	0.47092617	0.59857	T	0.033716	0.55178	D	0.290	0.60924	0.464	0.53404	0.322865848456	0.31899	0.6725320027135548	0.67191	0.496214373149	0.48140	0.531039118767	0.43181	T	0.132852	0.54605	T	-0.0211831	0.48685	T	0.0377722	0.72782	D	0.583291828632355	0.35745	D	0.935106	0.75644	D	0.4129711	0.61621	0.38874447	0.63711	0.4129711	0.61622	0.38874447	0.63711	-10.326	0.75840	D	.	.	0.311	0.53808	B	.;.	.;.	3.912442	0.57066	23.8	0.94604295905072344	0.25167	0.85903	0.45091	D	AEFBI	0.308654	0.41517	N	0.201019394223562	0.51248	3.307668	0.197771323349708	0.49725	3.172329	0.102020974910811	0.16400	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	2.97	0.33479	3.053000	0.49592	2.867000	0.35241	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.3926:0.6074	12.767	0.56776	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	639.83	35	chr18	31855737	.	T	C	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.25;DP=233;ExcessHet=0;FS=3.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.766;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	5	0	1	0
chr18	35264312	35264312	T	A	exonic	ZSCAN30	.	nonsynonymous SNV	ZSCAN30:NM_001112734:exon2:c.A41T:p.E14V,ZSCAN30:NM_001166012:exon3:c.A41T:p.E14V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00691345299443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.067	0.64786	T	0.039	0.39217	B	0.023	0.33681	B	.	.	.	.	0.995364	0.23308	N	1.665	0.42610	L	3.13	0.10975	T	-2.57	0.55501	D	0.164	0.23884	-0.9962	0.30974	T	0.018	0.07282	T	9	0.10392064	0.19132	T	0.006913	0.18289	T	0.022	0.04323	0.413	0.45052	0.351830644314	0.34792	0.22179318258328798	0.22094	0.0490856577026	0.05365	0.276432394981	0.07000	T	0.033629	0.35358	T	-0.224817	0.17341	T	-0.560711	0.16311	T	0.222402907190136	0.21583	T	0.0529947	0.31518	T	0.17522849	0.38369	0.14234616	0.33866	0.17522849	0.38369	0.14234616	0.33865	-4.486	0.30705	T	.	.	0.140	0.35140	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.919651	0.24382	16.38	0.95641261074264039	0.27441	0.20435	0.21040	N	AEFDBI	0.076996	0.15502	N	-0.588743829248812	0.19285	1.008135	-0.625127312728929	0.18848	1.008715	0.988407442614825	0.31505	0.615465	0.37627	0	0.653731	0.59785	0	0.78367	0.99111	0	0.655142	0.61905	0	.	.	4.27	3.11	0.34883	0.468000	0.21763	1.087000	0.23945	0.654000	0.53741	0.001000	0.13787	0.025000	0.21018	0.245000	0.23132	0.0:0.1123:0.0:0.8877	6.377	0.20715	933	0.16026	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	572.83	33	chr18	35264312	.	T	A	572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.742;DP=235;ExcessHet=0;FS=3.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.401;SOR=1.275	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1386	5	0	1	0
chr18	36146364	36146364	C	T	exonic	ELP2	.	stopgain	ELP2:NM_001242879:exon8:c.C898T:p.Q300X,ELP2:NM_001242877:exon10:c.C1030T:p.Q344X,ELP2:NM_001324468:exon10:c.C661T:p.Q221X,ELP2:NM_001324466:exon11:c.C1225T:p.Q409X,ELP2:NM_001324467:exon11:c.C1108T:p.Q370X,ELP2:NM_018255:exon11:c.C1108T:p.Q370X,ELP2:NM_001242875:exon12:c.C1303T:p.Q435X	Mental retardation, autosomal recessive 58, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004564	0.33608	N	0.332856	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.908	0.90932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.	.;.;High;.	9.661602	0.99187	42	0.99480083370379724	0.66850	0.98183	0.80324	D	AEFGBI	0.119427	0.23310	N	0.822512475288492	0.87492	9.236885	0.668213490342101	0.79972	7.197026	0.999978628248845	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	5.343000	0.65746	5.895000	0.50812	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8495:0.1505:0.0	14.236	0.65471	912	0.21483	WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1091.83	38	chr18	36146364	.	C	T	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.247;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.039;SOR=0.743	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr18	36199814	36199814	G	A	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G431A:p.R144H	Xanthinuria, type II, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	1127226	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.263	0.0185619323915	0.0018	0.000599042	0.0004	0.0045	8.645e-05	0	0	1.504e-05	0	0	0.0003687	57	154602	rs141483411	0.0001	0.0001	0.0001	9.763e-05	0.0036	9.266e-05	8.731e-05	0.0031	0.0029	0.0036	0.0002	0	2.519e-05	1.873e-05	0	4.496e-06	0.0003	3.478e-05	0.0013	0.0013	0.0014	0.0013	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0005	0	0.0002	9.416e-05	0.0068	0	0	0	0.8	0.03117	T	0.731	0.05146	T	0.003	0.11197	B	0.003	0.08700	B	0.175184	0.03141	N	1.590360	1	0.08975	N	0.995	0.25082	L	-2.15	0.86481	D	0.23	0.04613	N	0.049	0.02088	-0.6968	0.60591	T	0.405	0.75529	T	10	0.0100905895	0.00226	T	0.018562	0.40664	T	0.263	0.57612	.	.	0.601307451256	0.59812	0.29384607172841604	0.29297	0.094433556557	0.10659	0.207037031651	0.00692	T	0.051876	0.29003	T	-0.505681	0.00531	T	-0.49751	0.22607	T	0.0100304632258765	0.00134	T	0.324768	0.06643	T	0.024188593	0.01226	0.026310228	0.00713	0.024188593	0.01226	0.026310228	0.00713	-1.87	0.02726	T	0.11721766159409595	0.10682	0.060	0.01011	B	.	.	-0.536132	0.01755	0.132	0.84333854483777182	0.15231	0.11406	0.16613	N	AEFBCI	0.085240	0.17279	N	-1.69939941649127	0.00844	0.03650588	-1.82179528065405	0.00692	0.03080909	0.999999999556065	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.54	-10.1	0.00330	-0.104000	0.10893	-0.755000	0.07560	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.3194:0.0858:0.5088:0.086	6.093	0.19228	863	0.32847	Aminotransferase class V 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	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3412.06	35	chr18	36199814	.	G	A	3412.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=475;ExcessHet=0.4139;FS=2.701;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.866;SOR=0.869	GT:AD:DP:GQ:PL	0/1:73,44:117:99:1146,0,1999	4	0	2	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-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	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	137.05	33	chr18	37067197	.	G	A	137.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-6.333;DP=603;ExcessHet=0.4139;FS=151.123;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.672;SOR=8.688	GT:AD:DP:GQ:PL	0/1:199,46:245:99:134,0,4792	4	0	2	0
chr18	44952902	44952902	G	A	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.G3562A:p.E1188K,SETBP1:NM_001379142:exon4:c.G3562A:p.E1188K,SETBP1:NM_015559:exon4:c.G3562A:p.E1188K	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	YES	1329951	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.371	0.0453897305913	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs763274923	7.593e-05	7.661e-05	4.9e-05	0.0001	0.0009	6.423e-05	6.004e-05	0.0007	0.0007	2.987e-05	2.236e-05	0	0	0	0	2.698e-05	4.967e-05	0.0009	7.887e-05	7.881e-05	8.995e-05	6.727e-05	0.0006	4.498e-05	3.513e-05	0.0002	8.992e-05	0.0001	0	6.545e-05	0	0	0	0	4.409e-05	0	0.0006	0.012	0.54683	D	0.051	0.47828	T	1.0	0.90584	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.999706	0.48408	D	0.895	0.22405	L	-0.67	0.72458	T	-1.63	0.39119	N	0.802	0.79792	-0.3321	0.74072	T	0.427	0.77022	T	10	0.35205036	0.52041	T	0.04539	0.61955	D	0.371	0.69016	.	.	0.342854684421	0.33888	0.16570196897975337	0.16490	0.967141794113	0.73230	0.653127253056	0.60430	T	0.314259	0.68595	T	-0.0673485	0.41752	T	0.0262762	0.72036	D	0.205438107252121	0.20713	T	0.882912	0.60466	D	0.36426437	0.58158	0.34623608	0.60294	0.33089945	0.55544	0.29551062	0.55582	-4.342	0.28761	T	0.3838927469767616	0.47795	0.336	0.55637	B	.;.	.;.	4.676874	0.74799	26.2	0.99892220186702929	0.96589	0.99447	0.96143	D	AEFGBI	0.865084	0.78407	D	0.700326914300229	0.79653	7.123422	0.754554025160057	0.86495	8.90812	0.999999999678058	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.197000	0.77336	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:1.0:0.0	20.579	0.99382	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1364.83	120	chr18	44952902	.	G	A	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.052;DP=419;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.946;SOR=0.963	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1232	5	0	1	0
chr18	48040440	48040440	C	T	exonic	ZBTB7C	.	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G668A:p.R223Q,ZBTB7C:NM_001318841:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371286:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371288:exon4:c.G668A:p.R223Q,ZBTB7C:NM_001371285:exon5:c.G668A:p.R223Q,ZBTB7C:NM_001371287:exon5:c.G668A:p.R223Q,ZBTB7C:NM_001371284:exon6:c.G668A:p.R223Q,ZBTB7C:NM_001371291:exon6:c.G668A:p.R223Q,ZBTB7C:NM_001371290:exon9:c.G668A:p.R223Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00836491806707	0.0025	0.000599042	0.0019	0.0010	0.0022	0.0005	0.0009	0.0027	0.0023	7.386e-05	0.0019534	302	154602	rs148093158	0.0025	0.0025	0.0026	0.0025	0.0038	0.0025	0.0024	0.0033	0.0031	0.0005	0.0038	0.0004	0	0.0008	0.0003	0.0030	0.0022	0.0001	0.0018	0.0018	0.0018	0.0019	0.0033	0.0017	0.0016	0.0026	0.0023	0.0005	0	0.0033	0.0003	0.0002	0.0005	0	0.0027	0.0076	0.0002	0.016	0.51853	D	0.11	0.37310	T	0.994	0.66517	D	0.36	0.43183	B	0.013249	0.28902	N	0.359699	0.884789	0.35825	D	1.5	0.37844	L	2.72	0.11947	T	-0.44	0.14588	N	0.517	0.55453	-1.0506	0.14230	T	0.028	0.12103	T	10	0.01112625	0.00244	T	0.008365	0.22130	T	0.054	0.15330	.	.	0.117191471859	0.11215	0.3518830911885127	0.35102	0.49211329435	0.47871	0.65360724926	0.60499	T	0.008941	0.08170	T	-0.475209	0.00789	T	-0.458746	0.26736	T	0.0206844824164484	0.00768	T	0.934007	0.75281	D	0.18889338	0.40407	0.10203443	0.24444	0.18889338	0.40407	0.10203443	0.24443	-5.992	0.46213	T	.	.	0.285	0.55292	B	.;.;.;.	.;.;.;.	4.169641	0.62683	24.5	0.9990662998182438	0.97726	0.94326	0.60810	D	AEFDBI	0.760655	0.69861	D	0.325868938304828	0.57480	3.915452	0.417151843771471	0.62634	4.482034	0.999929125140356	0.46280	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	4.115000	0.57608	7.599000	0.61500	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.921:0.0:0.079	12.215	0.53711	902	0.24074	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1508.83	99	chr18	48040440	.	C	T	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.22;DP=283;ExcessHet=0;FS=13.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.542;SOR=0.477	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr18	48950310	48950310	C	T	exonic	SMAD7	.	nonsynonymous SNV	SMAD7:NM_001190821:exon1:c.G115A:p.G39R,SMAD7:NM_005904:exon1:c.G115A:p.G39R	.	352	1162	8	0	0	8	0.00343053	.	.	.	727740	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.262	.	0.0033	0.00219649	0.0033	0	0.0102	0	0	0.0078	0	0.0017	0.0018176	281	154602	rs144204026	0.0091	0.0087	0.0092	0.0089	0.0107	0.0089	0.0089	0.0105	0.0104	0.0017	0.0065	0.0033	2.956e-05	0.0024	0.0071	0.0107	0.0079	0.0015	0.0069	0.0069	0.0072	0.0065	0.0113	0.0065	0.0064	0.0107	0.0104	0.0019	0.0385	0.0071	0.0032	0	0.0015	0.0138	0.0113	0.0061	0.0017	0.381	0.11156	T	0.737	0.05221	T	0.736	0.42845	P	0.221	0.37837	B	0.033892	0.24840	N	0.199276	0.999221	0.46379	D	0.6	0.15550	N	-0.89	0.74793	T	0.05	0.06369	N	0.162	0.19593	-0.7276	0.59084	T	0.159	0.49195	T	10	0.006189704	0.00139	T	.	.	.	0.262	0.57482	0.223	0.14665	0.778636828197	0.77660	0.2835460402726191	0.28267	2.05838413245	0.94392	0.923187971115	0.98557	D	0.507525	0.82522	D	-0.33135	0.06010	T	-0.23835	0.50960	T	0.0210421096382977	0.00805	T	0.729327	0.34443	T	0.13354963	0.31058	0.12657623	0.30482	0.13354963	0.31058	0.12657623	0.30481	-4.228	0.27412	T	.	.	0.216	0.44592	B	.;.	.;.	2.973784	0.39645	21.0	0.85506414441976486	0.15935	0.59097	0.30821	D	AEFDBHCI	0.493352	0.52960	N	-0.111355608488586	0.36898	2.139092	-0.0868018227623789	0.35934	2.084994	0.999999999638852	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.5	3.5	0.39181	2.630000	0.46160	3.826000	0.39973	0.493000	0.22426	0.996000	0.39380	1.000000	0.68203	0.058000	0.15825	0.0:1.0:0.0:0.0	14.077	0.64422	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006904	0.000000	0.011475	0.006211	0.000000	0.000000	0.006944	0.008475	0.08333	429.83	35	chr18	48950310	.	C	T	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.745;DP=241;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=1.33;SOR=0.634	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1100	5	0	1	0
chr18	49286571	49286571	G	A	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374441:exon4:c.C239T:p.A80V,DYM:NM_001374442:exon4:c.C239T:p.A80V,DYM:NM_001374443:exon4:c.C236T:p.A79V,DYM:NM_001374444:exon4:c.C239T:p.A80V,DYM:NM_001374440:exon7:c.C581T:p.A194V,DYM:NM_001374432:exon8:c.C683T:p.A228V,DYM:NM_001374436:exon8:c.C683T:p.A228V,DYM:NM_001353210:exon9:c.C806T:p.A269V,DYM:NM_001353211:exon9:c.C806T:p.A269V,DYM:NM_001353212:exon9:c.C806T:p.A269V,DYM:NM_001353213:exon9:c.C806T:p.A269V,DYM:NM_001353214:exon9:c.C809T:p.A270V,DYM:NM_001353215:exon9:c.C809T:p.A270V,DYM:NM_001353216:exon9:c.C809T:p.A270V,DYM:NM_001374429:exon9:c.C803T:p.A268V,DYM:NM_001374430:exon9:c.C809T:p.A270V,DYM:NM_001374431:exon9:c.C809T:p.A270V,DYM:NM_001374433:exon9:c.C809T:p.A270V,DYM:NM_001374434:exon9:c.C809T:p.A270V,DYM:NM_001374435:exon9:c.C806T:p.A269V,DYM:NM_001374438:exon9:c.C806T:p.A269V,DYM:NM_001374439:exon9:c.C803T:p.A268V,DYM:NM_017653:exon9:c.C809T:p.A270V,DYM:NM_001374428:exon10:c.C809T:p.A270V	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1372142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0550475317727	.	.	2.484e-05	0	0	0	0	4.516e-05	0	0	1.94e-05	3	154602	rs753827775	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	5.85e-05	3.758e-05	0.0001	6.708e-05	0	0	0	0.0002	9.893e-06	3.312e-05	0	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0003	2.557e-05	1.83e-05	0.0001	8.291e-05	4.824e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.31	0.17410	T	0.305	0.20037	T	0.009	0.15093	B	0.003	0.11217	B	0.013476	0.28831	N	0.428162	0.985667	0.40317	D	1.245	0.31408	L	-1.5	0.81318	D	-0.57	0.17210	N	0.204	0.22614	-0.6290	0.63613	T	0.352	0.71565	T	10	0.10890016	0.20293	T	0.055048	0.66086	D	0.267	0.58126	0.45	0.51121	0.642757676758	0.63980	0.29965280743331796	0.29878	0.0727192281206	0.08147	0.303616404533	0.10943	T	0.307925	0.69727	T	-0.231829	0.16406	T	-0.334114	0.41009	T	0.0301969666033983	0.02019	T	0.685131	0.32115	T	0.02726001	0.01892	0.04317107	0.05311	0.02726001	0.01892	0.04317107	0.05310	-5.329	0.40229	T	0.12697893414049852	0.12920	0.069	0.04599	B	.;.;.;.;.;.	.;.;.;.;.;.	1.611450	0.20591	14.82	0.77523539448921452	0.11911	0.83376	0.42498	D	AEFBI	0.125506	0.24204	N	-0.506649831870198	0.21864	1.163458	-0.414890100039531	0.24561	1.34558	0.682163348166184	0.22492	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.81	4.05	0.46415	4.031000	0.56978	4.534000	0.43737	-0.103000	0.15852	0.853000	0.30494	0.999000	0.35428	0.018000	0.11154	0.1327:0.1215:0.7458:0.0	9.066	0.35628	958	0.09170	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	377.83	32	chr18	49286571	.	G	A	377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.656;DP=216;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=2.18;SOR=0.323	GT:AD:DP:GQ:PL	0/0:35,0:35:96:0,96,1440	5	0	1	0
chr18	50274277	50274277	C	T	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204141:exon10:c.G905A:p.R302H,MBD1:NM_001204151:exon10:c.G986A:p.R329H,MBD1:NM_001323953:exon10:c.G479A:p.R160H,MBD1:NM_015845:exon10:c.G986A:p.R329H,MBD1:NM_015847:exon10:c.G908A:p.R303H,MBD1:NM_001204136:exon11:c.G1055A:p.R352H,MBD1:NM_001204139:exon11:c.G1055A:p.R352H,MBD1:NM_001204142:exon11:c.G1055A:p.R352H,MBD1:NM_001323950:exon11:c.G1052A:p.R351H,MBD1:NM_001323951:exon11:c.G1055A:p.R352H,MBD1:NM_015846:exon11:c.G1055A:p.R352H,MBD1:NM_001204137:exon12:c.G1130A:p.R377H,MBD1:NM_001204138:exon12:c.G1130A:p.R377H,MBD1:NM_001323942:exon12:c.G1130A:p.R377H,MBD1:NM_001323947:exon12:c.G1130A:p.R377H,MBD1:NM_001323949:exon12:c.G623A:p.R208H	.	.	.	.	.	.	.	.	.	.	.	4167503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	0.0386108250355	.	.	5.851e-05	9.958e-05	8.685e-05	0.0006	0	0	0	0	6.47e-05	10	154602	rs747759305	4.105e-05	4.104e-05	4.221e-05	3.989e-05	0.0002	3.245e-05	2.92e-05	6.51e-05	4.449e-05	0.0001	2.236e-05	0	0.0002	0	0.0002	4.137e-05	3.312e-05	0	3.284e-05	3.283e-05	5.137e-05	1.344e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.559	0.08483	T	0.241	0.24334	T	0.002	0.12183	B	0.002	0.06944	B	0.411946	0.12985	N	0.737333	1	0.81001	D	0.42	0.12520	N	-3.65	0.95179	D	-0.56	0.17624	N	0.114	0.10483	-0.7202	0.59453	T	0.554	0.83677	D	10	0.06674391	0.09198	T	0.038611	0.58323	D	0.252	0.56159	.	.	0.473641421861	0.46993	0.662757928377015	0.66212	0.607307371854	0.55543	0.366511851549	0.20331	T	0.056485	0.30300	T	-0.251714	0.13889	T	-0.307198	0.43958	T	0.0328876699275436	0.02452	T	0.881912	0.63503	D	0.029371884	0.02421	0.05058546	0.07968	0.029371884	0.02421	0.05058546	0.07967	-4.44	0.30096	T	.	.	0.066	0.03407	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.182493	0.15731	12.06	0.96738491814672167	0.30913	0.10941	0.16299	N	AEFDBCI	0.057870	0.10813	N	-0.910573592995146	0.10594	0.5069812	-0.867182662934636	0.12875	0.6648315	0.999861321794056	0.44398	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	-4.81	0.02948	-1.339000	0.02759	-0.004000	0.13159	0.599000	0.40250	0.000000	0.06391	0.527000	0.25341	1.000000	0.97212	0.1053:0.2863:0.0:0.6083	7.309	0.25637	891	0.26808	.;Zinc finger, CXXC-type|Zinc finger, CXXC-type;.;Zinc finger, CXXC-type|Zinc finger, CXXC-type;.;Zinc finger, CXXC-type|Zinc finger, CXXC-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	1	0	.	.	.	.	.	.	.	.	0.08333	567.83	53	chr18	50274277	.	C	T	567.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=247;ExcessHet=0;FS=1.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1;SOR=0.99	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1424	5	0	1	0
chr18	50920751	50920751	C	T	exonic	ME2	.	nonsynonymous SNV	ME2:NM_001168335:exon9:c.C935T:p.A312V,ME2:NM_002396:exon9:c.C935T:p.A312V	.	.	.	.	.	.	.	.	.	.	.	3453510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.700	0.120092993348	.	.	8.318e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs767927111	1.378e-06	1.368e-06	1.371e-06	1.385e-06	2.358e-05	2.3e-07	9e-08	.	.	0	2.358e-05	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	0.25	0.59449	T	-3.95	0.73477	D	0.949	0.95725	0.034	0.82928	D	0.474	0.79795	T	10	0.97561234	0.97317	D	0.120093	0.80055	D	0.700	0.89192	0.938	0.99130	0.869993256652	0.86873	0.8974001471242238	0.89711	1.02579315666	0.75269	0.717810511589	0.69727	T	0.171092	0.51908	T	0.299969	0.82965	D	0.282839	0.87274	D	0.966074645519257	0.67467	D	0.988501	0.97149	D	0.9611285	0.97394	0.92857295	0.96997	0.9611285	0.97394	0.92857295	0.96997	-9.296	0.71026	D	.	.	0.852	0.84397	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.293540	0.88880	29.8	0.99912180625435265	0.98095	0.98672	0.85404	D	AEFBI	0.901821	0.84896	D	0.95673578566189	0.94250	12.613	0.91428009280917	0.96164	14.37591	0.999999999932028	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.898000	0.85965	7.632000	0.62779	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.685	0.91519	632	0.64850	Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;.;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	448.83	39	chr18	50920751	.	C	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.248;DP=235;ExcessHet=0;FS=2.354;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-3.175;SOR=0.881	GT:AD:DP:GQ:PL	0/1:35,21:56:99:459,0,869	5	0	1	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	188.84	37	chr18	51177115	.	C	T	188.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.856;DP=384;ExcessHet=0;FS=66.703;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.42;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:88:99:.:.:0,120,1800:.	5	0	1	0
chr18	54331786	54331786	A	C	exonic	STARD6	.	stopgain	STARD6:NM_001371101:exon4:c.T164G:p.L55X,STARD6:NM_001371102:exon4:c.T164G:p.L55X,STARD6:NM_139171:exon6:c.T341G:p.L114X	.	435	1084	1	2	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00499201	0.0011	0.0115	0.0005	0	0	4.496e-05	0.0011	0	0.0010349	160	154602	rs73958758	0.0004	0.0004	0.0005	0.0003	0.0138	0.0004	0.0003	0.0128	0.0124	0.0138	0.0008	0	0	0	0.0009	3.599e-06	0.0009	5.807e-05	0.0033	0.0033	0.0033	0.0033	0.0109	0.0031	0.0030	0.0100	0.0097	0.0109	0	0.0024	0	0	0	0	0.0001	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.104240	0.19712	N	0.408406	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.344	0.38541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264817	0.79973	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive;Tolerant|Recessive	High|High;High|High	8.241414	0.97335	37	0.98314629450067814	0.40173	0.91875	0.54452	D	AEFGI	0.040332	0.05986	N	0.717701079784443	0.80791	7.373595	0.565949114999864	0.72516	5.821909	0.723047597605223	0.22955	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.89	5.89	0.94758	4.723000	0.61658	10.836000	0.83891	0.731000	0.85647	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	12.697	0.56378	598	0.68232	START domain|START domain|START domain;START domain|START domain|START 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1280.06	33	chr18	54331786	.	A	C	1280.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.277;DP=238;ExcessHet=0.4139;FS=0.751;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.598;SOR=0.58	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	4	0	2	0
chr18	54597879	54597879	G	A	exonic	DYNAP	.	nonsynonymous SNV	DYNAP:NM_001307955:exon3:c.G211A:p.V71M,DYNAP:NM_173629:exon3:c.G289A:p.V97M	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0042	0.00519169	0.0012	0.0134	0.0006	0	0	3.004e-05	0.0011	0	0.0011837	183	154602	rs146428076	0.0005	0.0005	0.0006	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0009	0	0	0	0.0009	8.995e-07	0.0009	5.799e-05	0.0042	0.0042	0.0041	0.0042	0.0141	0.0039	0.0038	0.0131	0.0127	0.0141	0	0.0026	0	0	0	0	8.822e-05	0.0024	0	0.0	0.91255	D	0.012	0.63918	D	0.999	0.77913	D	0.952	0.69102	D	0.585619	0.11100	N	0.775562	0.99546	0.24241	N	1.59	0.40313	L	1.84	0.24656	T	-1.43	0.35194	N	0.305	0.34444	-1.0689	0.09657	T	0.059	0.24686	T	10	0.0070743263	0.00161	T	.	.	.	0.071	0.20720	.	.	0.12205267543	0.11705	0.13060489021001462	0.12985	0.0981135140586	0.11074	0.373374938965	0.21315	T	0.021642	0.16816	T	-0.56753	0.00229	T	-0.576318	0.14875	T	0.0322516133934865	0.02347	T	0.765923	0.39354	T	0.33230376	0.55659	0.49657702	0.70888	0.33230376	0.55659	0.49657702	0.70889	-6.844	0.52885	T	.	.	0.200	0.42390	B	.;.;.	.;.;.	2.623445	0.34099	19.53	0.99856430236393035	0.93548	0.68583	0.33857	D	AEFGBI	0.173250	0.30032	N	0.290153387355756	0.55649	3.728867	0.237885959738538	0.51961	3.374523	2.26425059714182E-4	0.06048	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.82	3.91	0.44383	0.300000	0.18911	-0.181000	0.11132	0.676000	0.76740	0.984000	0.35821	0.000000	0.08366	0.913000	0.44837	0.0:0.0:0.8098:0.1902	10.778	0.45559	789	0.46346	CLLAC-motif containing domain;.;CLLAC-motif containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3115.06	34	chr18	54597879	.	G	A	3115.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=361;ExcessHet=0.4139;FS=10.629;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.301;SOR=1.3	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	4	0	2	0
chr18	57435846	57435846	G	A	exonic	ONECUT2	.	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.G130A:p.G44S	.	1291	225	4	1	1	7	0.0131579	.	.	.	2265759	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	.	.	0.3974	0	.	0	0.5	0.3409	0.5	0.625	0.0004528	70	154602	rs201085296	0.0010	0.0008	0.0010	0.0011	0.0018	0.0010	0.0010	0.0013	0.0011	6.259e-05	0	0	0	0.0094	0	0.0010	0.0006	0.0018	0.0008	0.0008	0.0007	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0001	0	0	0.0033	0	0.0011	0.0010	0.0006	.	.	.	0.162	0.31225	T	0.038	0.21002	B	0.002	0.06944	B	.	.	.	.	0.959096	0.28455	N	0	0.06538	N	1.13	0.38556	T	.	.	.	0.08	0.05542	-1.0183	0.24269	T	0.036	0.15683	T	8	0.0028811693	0.00046	T	.	.	.	0.064	0.18567	0.243	0.17677	.	.	0.3972368777396268	0.39638	1.57708980324	0.88325	0.809312522411	0.83387	D	0.107444	0.41965	T	-0.170457	0.25165	T	-0.482626	0.24168	T	0.066915447950742	0.08211	T	0.515049	0.16594	T	0.10316941	0.24383	0.20769353	0.45039	0.10316941	0.24383	0.20769353	0.45038	-6.865	0.53041	T	.	.	0.113	0.22208	B	.	.	3.880461	0.56390	23.7	0.9925514753466258	0.57022	0.11144	0.16437	N	AEFDBHCI	0.066455	0.13014	N	-0.722254103779051	0.15396	0.7755955	-0.611756625095055	0.19191	1.028556	0.999962411211882	0.48965	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	1.93	1.93	0.24985	0.048000	0.13962	8.870000	0.78330	0.286000	0.18717	0.994000	0.38300	1.000000	0.68203	0.972000	0.54974	0.2139:0.0:0.7861:0.0	4.297	0.10350	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002867	0.000000	0.004178	0.000000	0.000000	0.008929	0.000000	0.004065	0.1667	275.68	16	chr18	57435846	.	G	A	275.68	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.949;DP=35;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.915;SOR=1.022	GT:AD:DP:GQ:PL	./.:.:0:0:0,0,0	2	0	1	3
chr18	58329012	58329012	C	T	exonic	NEDD4L	.	nonsynonymous SNV	NEDD4L:NM_001144966:exon9:c.C335T:p.S112L,NEDD4L:NM_001144970:exon9:c.C335T:p.S112L,NEDD4L:NM_001144964:exon10:c.C335T:p.S112L,NEDD4L:NM_001144965:exon10:c.C335T:p.S112L,NEDD4L:NM_001144967:exon10:c.C698T:p.S233L,NEDD4L:NM_001144968:exon10:c.C674T:p.S225L,NEDD4L:NM_001144969:exon10:c.C674T:p.S225L,NEDD4L:NM_001243960:exon10:c.C698T:p.S233L,NEDD4L:NM_015277:exon10:c.C698T:p.S233L,NEDD4L:NM_001144971:exon11:c.C335T:p.S112L	Periventricular nodular heterotopia 7, Autosomal dominant	426	1079	16	1	0	18	0.00827206	.	.	.	402844	not_provided|Periventricular_nodular_heterotopia_7|NEDD4L-related_disorder	MedGen:C3661900|MONDO:MONDO:0014966,MedGen:C4310669,OMIM:617201|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	0.0183812668764	0.0040	0.00119808	0.0041	0.0003	0.0012	0.0001	0.0057	0.0053	0.0090	0.0048	0.0040103	620	154602	rs202231187	0.0047	0.0047	0.0046	0.0048	0.0101	0.0046	0.0046	0.0080	0.0072	0.0008	0.0013	0.0081	5.038e-05	0.0052	0.0101	0.0050	0.0049	0.0047	0.0035	0.0035	0.0036	0.0034	0.0053	0.0033	0.0032	0.0049	0.0047	0.0005	0.0220	0.0008	0.0081	0	0.0057	0.0136	0.0053	0.0033	0.0041	0.107	0.50676	T	0.301	0.45318	T	0.41	0.40644	B	0.055	0.34065	B	0.000148	0.49130	D	0.173086	0.999784	0.81001	D	1.24	0.30952	L	1.37	0.46412	T	-2.26	0.55025	N	0.567	0.60410	-1.0756	0.08225	T	0.059	0.24908	T	10	0.0074940026	0.00170	T	0.018381	0.40424	T	0.139	0.37390	.	.	0.35158688536	0.34763	0.5716734833746294	0.57095	0.449474654924	0.44736	0.588885128498	0.51336	T	0.408685	0.76394	T	-0.415663	0.01824	T	-0.365843	0.37374	T	0.0195920929002198	0.00662	T	0.973803	0.91165	D	0.07947722	0.18158	0.10210983	0.24465	0.12459458	0.29230	0.1255882	0.30257	-7.056	0.55057	T	0.11154926837468247	0.09550	0.128	0.43074	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.561190	0.71881	25.7	0.99804019341341177	0.88817	0.95193	0.63781	D	AEFGBI	0.669463	0.63689	D	0.261448845677485	0.54209	3.58695	0.406806312695072	0.61987	4.407017	0.999999999872569	0.74766	0.744818	0.98587	0	0.633656	0.55848	0	0.732433	0.93434	0	0.727631	0.95156	0	.	.	6.16	6.16	0.99302	4.060000	0.57191	7.639000	0.63104	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.851000	0.40252	0.0:1.0:0.0:0.0	20.860	0.99763	972	0.05671	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.017241	0.009146	0.015152	0.08333	1156.83	111	chr18	58329012	.	C	T	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.196;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	5	0	1	0
chr18	58504006	58504006	C	A	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6172T:p.G2058C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0908518160745	.	.	6.591e-05	9.615e-05	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs753647182	4.788e-05	4.788e-05	4.764e-05	4.813e-05	5.486e-05	3.86e-05	3.54e-05	4.351e-05	3.944e-05	2.987e-05	0	0	0	1.872e-05	0	5.486e-05	0.0001	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	0.001	0.78490	D	0.003	0.76473	D	0.986	0.61523	D	0.943	0.67921	D	0.000123	0.49741	D	0.080490	1	0.81001	D	2.175	0.60977	M	3.15	0.07820	T	-5.64	0.86914	D	0.824	0.81957	-1.2103	0.00088	T	0.058	0.24502	T	10	0.78826225	0.78435	D	0.090852	0.75595	D	0.445	0.74727	0.642	0.77903	0.469742815239	0.46599	0.8231535046470219	0.82272	0.514025229606	0.49365	0.802179515362	0.82295	T	0.038957	0.25023	T	0.0460064	0.57828	T	0.0142124	0.71255	D	0.964535534381866	0.66987	D	0.868113	0.56980	D	0.8145125	0.84852	0.78544784	0.87363	0.8145125	0.84853	0.78544784	0.87364	-10.58	0.77305	D	.	.	0.967	0.88983	P	.	.	4.955314	0.81888	27.7	0.99507938654798578	0.68440	0.98043	0.79119	D	AEFBI	0.974558	0.99566	D	0.758016723698828	0.83426	8.014441	0.776590226363211	0.88121	9.465541	0.999999999998139	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	7.510000	0.80594	7.645000	0.63394	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.352	0.94378	965	0.07246	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	948.83	33	chr18	58504006	.	C	A	948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.902;SOR=0.651	GT:AD:DP:GQ:PL	0/1:53,37:90:99:959,0,1368	5	0	1	0
chr18	58538141	58538141	-	G	exonic	ALPK2	.	frameshift insertion	ALPK2:NM_052947:exon5:c.2045dupC:p.F683Ifs*38	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.000599042	0.0018	0.0005	0.0007	0	0.0005	0.0030	0.0022	0.0005	0.0003074	8	26028	rs561573547	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0031	0.0031	0.0004	0.0013	0.0061	2.52e-05	0.0009	0.0016	0.0032	0.0029	0.0007	0.0020	0.0020	0.0021	0.0020	0.0033	0.0019	0.0018	0.0026	0.0025	0.0006	0	0.0033	0.0058	0	0.0008	0.0068	0.0029	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.002924	0.050000	0.008621	0.000000	0.003788	0.08333	1691.79	57	chr18	58538141	.	T	TG	1691.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=361;ExcessHet=0;FS=0.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-1.81;SOR=0.832	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1702,0,1234	5	0	1	0
chr18	61816354	61816354	A	G	exonic	RNF152	.	nonsynonymous SNV	RNF152:NM_173557:exon2:c.T110C:p.V37A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.0322621528036	0.0033	0.000599042	0.0026	0.0010	0.0010	0	0.0014	0.0043	0.0011	0.0003	0.0027231	421	154602	rs144135723	0.0042	0.0042	0.0044	0.0041	0.0051	0.0042	0.0041	0.0050	0.0050	0.0004	0.0013	0.0029	0	0.0016	0.0005	0.0051	0.0040	0.0005	0.0027	0.0027	0.0028	0.0026	0.0046	0.0025	0.0024	0.0042	0.0040	0.0009	0	0.0021	0.0040	0	0.0009	0	0.0046	0.0005	0.0004	0.167	0.23095	T	0.162	0.31225	T	0.455	0.36245	P	0.288	0.40614	B	0.000015	0.62929	D	0.066443	0.999986	0.54805	D	0.25	0.09762	N	-2.86	0.91421	D	-0.23	0.10656	N	0.602	0.62018	-0.1799	0.78182	T	0.480	0.80129	T	10	0.027457595	0.00891	T	0.032262	0.54132	D	0.596	0.83965	.	.	0.914512200338	0.91365	0.35514923628734785	0.35428	0.739256525941	0.63156	0.793148756027	0.80921	T	0.309316	0.68135	T	-0.106211	0.35395	T	0.0774095	0.75405	D	0.0533076776075363	0.06073	T	0.782722	0.44372	T	0.08860955	0.20676	0.12638915	0.30439	0.08860955	0.20676	0.12638915	0.30438	-4.574	0.31843	T	.	.	0.713	0.73508	P	.;.	.;.	3.352492	0.46249	22.3	0.91365582232566522	0.20630	0.98214	0.80602	D	AEFBI	0.883587	0.81262	D	0.0442595265330801	0.43878	2.672305	0.223719913152823	0.51167	3.301583	0.999999969545721	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.97	4.97	0.65419	8.546000	0.90465	8.031000	0.76273	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.815	0.69659	949	0.11373	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1403.83	95	chr18	61816354	.	A	G	1403.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.712;DP=295;ExcessHet=0;FS=2.839;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-1.546;SOR=1.048	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	5	0	1	0
chr18	63639314	63639314	C	T	exonic	SERPINB4	.	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.G639A:p.M213I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.0906222506653	.	.	1.662e-05	9.651e-05	0	0	0	0	0	6.089e-05	1.29e-05	2	154602	rs776020594	6.165e-06	6.156e-06	2.726e-06	9.639e-06	9.297e-05	2.9e-06	2.1e-06	4.588e-05	3.279e-05	2.994e-05	0	0	0	0	0	0	0	9.297e-05	1.315e-05	1.313e-05	0	2.693e-05	6.559e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.559e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.95	0.53885	P	0.934	0.66904	D	0.000077	0.52346	D	0.000000	0.997518	0.81001	D	3.755	0.95055	H	-3.05	0.92407	D	-3.3	0.67589	D	0.781	0.77789	1.081	0.98920	D	0.917	0.97237	D	10	0.9439801	0.93722	D	0.090622	0.75552	D	0.839	0.94952	0.939	0.99156	0.556891854595	0.55349	0.7098849008676936	0.70930	0.0608350649854	0.06768	.	.	.	0.661967	0.89867	D	0.171406	0.71252	D	0.190584	0.82603	D	0.98534768819809	0.76366	D	0.89491	0.65471	D	0.66999453	0.76433	0.67619056	0.80985	0.66999453	0.76434	0.67619056	0.80985	-9.277	0.69463	D	.	.	0.944	0.87105	P	.;.	.;.	4.234629	0.64158	24.7	0.99532019134895511	0.69963	0.97910	0.78054	D	AEFGCI	0.812310	0.73507	D	0.771403923625206	0.84290	8.246716	0.598821835271193	0.74855	6.208644	0.999952024318863	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	7.574000	0.81754	5.662000	0.49222	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	0.0:1.0:0.0:0.0	16.064	0.80665	963	0.08280	Serpin domain|Serpin domain;Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.08333	1174.83	35	chr18	63639314	.	C	T	1174.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=288;ExcessHet=0;FS=2.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.38;SOR=0.954	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1409	5	0	1	0
chr18	63987141	63987141	G	A	exonic	SERPINB8	.	nonsynonymous SNV	SERPINB8:NM_001348370:exon5:c.G448A:p.A150T,SERPINB8:NM_001276490:exon6:c.G442A:p.A148T,SERPINB8:NM_001366198:exon7:c.G988A:p.A330T,SERPINB8:NM_002640:exon7:c.G988A:p.A330T,SERPINB8:NM_198833:exon7:c.G988A:p.A330T	Peeling skin syndrome 5, Autosomal recessive	423	1097	2	0	0	2	0.000910747	.	.	.	1885051	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.566	0.0649312070045	0.0004	0.000199681	0.0002	0.0004	0.0002	0.0002	0	0.0002	0.0011	6.057e-05	0.0002523	39	154602	rs140176524	0.0003	0.0003	0.0003	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0007	0.0002	0	2.519e-05	0.0001	0.0016	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0004	0.0008	0.0007	0.0008	0	0.0012	0	0	0	0	0.0003	0.0005	0.0002	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.957	0.69900	D	0.000006	0.62929	D	0.142357	1	0.81001	D	2.49	0.72568	M	-2.08	0.87671	D	-3.3	0.69236	D	0.518	0.54845	0.837	0.94867	D	0.835	0.94475	D	10	0.4867465	0.60753	T	0.064931	0.69427	D	0.566	0.82289	.	.	0.903779644956	0.90282	0.6460041567041266	0.64535	0.104621109096	0.11836	0.364694416523	0.20067	T	0.622155	0.88172	D	-0.0782662	0.39996	T	-0.0340444	0.68100	D	0.904200315475464	0.55759	D	0.975402	0.91282	D	0.59353817	0.72342	0.63859195	0.78892	0.59353817	0.72343	0.63859195	0.78893	-8.329	0.63291	D	0.5437249704713552	0.61308	0.537	0.68809	A	.;.;.	.;.;.	4.489723	0.70122	25.5	0.99918325511241468	0.98586	0.90126	0.51061	D	AEFDBHCI	0.656134	0.62822	D	0.721810336376796	0.81061	7.435127	0.591185163861024	0.74303	6.114715	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.854000	0.75239	5.711000	0.49424	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.129000	0.19529	0.0:0.0:1.0:0.0	18.891	0.92374	933	0.16026	Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	1679.83	36	chr18	63987141	.	G	A	1679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.37;DP=406;ExcessHet=0;FS=3.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.465;SOR=0.522	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	5	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	229.06	59	chr18	65824683	.	C	G	229.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.603;DP=273;ExcessHet=0.6695;FS=191.009;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.122;SOR=8.015	GT:AD:DP:GQ:PL	0/0:37,0:63:99:135,233,692	2	0	1	3
chr18	65824683	65824683	C	T	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833T:p.A278V,CDH7:NM_001362438:exon6:c.C833T:p.A278V,CDH7:NM_004361:exon6:c.C833T:p.A278V,CDH7:NM_033646:exon6:c.C833T:p.A278V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0119740858645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213232655	6.859e-07	1.368e-06	0	1.379e-06	2.525e-05	0	0	.	.	0	0	0	2.525e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.053	0.24253	B	0.051	0.26930	B	0.072800	0.21387	N	0.451193	0.986877	0.40500	D	0.805	0.20218	L	1.15	0.38236	T	-2.81	0.59389	D	0.454	0.50146	-1.0412	0.16951	T	0.080	0.31556	T	10	0.21349788	0.37843	T	0.011974	0.30115	T	0.070	0.20419	0.699	0.83592	0.261638197198	0.25763	0.4085079323775005	0.40766	0.370824421453	0.38592	0.661295115948	0.61595	T	0.228038	0.59348	T	-0.238498	0.15540	T	-0.411234	0.32083	T	0.696423768997192	0.40549	D	0.949105	0.80429	D	0.53637636	0.69193	0.71984893	0.83460	0.53637636	0.69194	0.71984893	0.83461	-5.187	0.38809	T	.	.	0.152	0.34906	B	.;.;.	.;.;.	3.691616	0.52601	23.3	0.99730261738919113	0.82690	0.78981	0.39054	D	AEFDGBI	0.170287	0.29718	N	-0.176406446080971	0.34119	1.94363	-0.0550690402966551	0.37272	2.180049	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	229.06	59	chr18	65824683	.	C	T	229.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.603;DP=273;ExcessHet=0.6695;FS=191.009;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.122;SOR=8.015	GT:AD:DP:GQ:PL	0/1:37,26:63:99:135,0,391	2	0	1	3
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F,RTTN:NM_173630:exon45:c.G6038T:p.C2013F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	9	1472	39	2	0	43	0.0143957	.	.	.	135637	RTTN-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013595	0.010101	0.013587	0.032164	0.000000	0.000000	0.000000	0.011364	0.1667	2140.06	94	chr18	70020730	.	C	A	2140.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.075;DP=316;ExcessHet=0.4139;FS=5.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.87;SOR=0.406	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	4	0	2	0
chr18	74354225	74354225	C	A	exonic	C18orf63	.	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1958A:p.S653Y	.	430	1088	2	0	2	4	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0136637401253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.232e-07	6.84e-07	1.428e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.924	0.51285	P	0.512	0.47969	P	0.183814	0.17031	N	0.497784	1	0.08975	N	2.34	0.67151	M	0.87	0.46412	T	.	.	.	0.107	0.09207	-0.9338	0.43575	T	0.126	0.43132	T	9	0.10772708	0.20022	T	0.013664	0.33231	T	.	.	0.113	0.02240	0.278968121808	0.27521	0.1621428313516769	0.16134	.	.	.	.	.	0.017042	0.13973	T	-0.147164	0.28757	T	-0.449168	0.27790	T	0.558772734597939	0.34809	D	0.561544	0.19673	T	0.14806537	0.33820	0.21886243	0.46604	0.14806537	0.33819	0.21886243	0.46603	-5.207	0.39013	T	.	.	0.105	0.19316	B	.	.	2.386290	0.30640	18.50	0.53383295509664475	0.04929	0.17680	0.19941	N	AEFBI	0.045484	0.07443	N	-0.0281024362642582	0.40586	2.412767	-0.156787595150334	0.33149	1.893161	0.152650626329827	0.17466	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.95	4.09	0.47038	0.419000	0.20967	1.806000	0.28922	0.596000	0.33519	0.000000	0.06391	0.003000	0.18671	0.030000	0.13115	0.1563:0.7641:0.0:0.0796	8.287	0.31097	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1213.83	33	chr18	74354225	.	C	A	1213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.939;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.264;SOR=0.651	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1224,0,933	5	0	1	0
chr18	74501438	74501438	G	C	exonic	CNDP2	.	nonsynonymous SNV	CNDP2:NM_001168499:exon2:c.G170C:p.G57A,CNDP2:NM_001370248:exon3:c.G170C:p.G57A,CNDP2:NM_001370250:exon3:c.G170C:p.G57A,CNDP2:NM_018235:exon3:c.G170C:p.G57A,CNDP2:NM_001370249:exon5:c.G170C:p.G57A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.010988330968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389599291	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02478	T	0.001	0.90584	B	0.001	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.82	0.20857	L	3.26	0.70717	T	1.0	0.01408	N	0.775	0.78167	-1.0768	0.07983	T	0.032	0.13723	T	10	0.31324315	0.48777	T	0.010988	0.28145	T	0.273	0.58883	0.429	0.47680	0.806892501893	0.80508	0.822376184835706	0.82194	0.178233127683	0.20055	0.49447157979	0.38059	T	0.005751	0.33400	T	0.169852	0.71110	D	0.00620464	0.70738	D	0.332640516996921	0.26330	T	0.956104	0.86758	D	0.24766263	0.47746	0.21055056	0.45446	0.24766263	0.47746	0.21055056	0.45445	-7.654	0.58687	D	.	.	0.167	0.49509	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.774467	0.36426	20.2	0.96215953760436768	0.29069	0.99476	0.96499	D	AEFDGBIJ	0.951779	0.96665	D	0.0116040952339109	0.42383	2.552583	0.195705022761898	0.49611	3.162248	1.0	0.98316	0.706548	0.73137	0	0.685571	0.66316	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.858000	0.98409	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	19.658	0.95847	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	663.83	38	chr18	74501438	.	G	C	663.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.7;SOR=0.852	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr18	74634091	74634091	T	G	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.T3072G:p.F1024L,ZNF407:NM_001146190:exon1:c.T3072G:p.F1024L,ZNF407:NM_001384475:exon2:c.T3072G:p.F1024L,ZNF407:NM_017757:exon2:c.T3072G:p.F1024L	.	426	1085	11	0	0	11	0.00504356	.	.	.	208484	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0610481038886	8.1e-05	.	0.0002	0.0001	0.0004	0	0	0.0003	0	0.0003	0.0002135	33	154602	rs199675086	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0034	0.0030	2.987e-05	0.0002	0	0	1.873e-05	0.0049	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	2.404e-05	0	6.532e-05	0	0	0	0.0034	0.0002	0	0.0006	0.001	0.78490	D	0.528	0.39954	T	1.0	0.90584	D	0.998	0.88582	D	0.001496	0.38855	N	0.203180	1	0.08975	N	2.455	0.71248	M	2.52	0.14160	T	-1.85	0.53258	N	0.466	0.62103	-1.0611	0.11483	T	0.051	0.21883	T	10	0.18171942	0.33417	T	0.061048	0.68202	D	0.162	0.41843	0.447	0.50629	0.379214838424	0.37538	0.3061656667013605	0.30529	0.50281439346	0.48633	0.72247338295	0.70406	T	0.545374	0.84508	D	-0.308967	0.07839	T	-0.389438	0.34618	T	0.0965575097583031	0.11974	T	0.813219	0.48908	T	0.23898204	0.46782	0.28000823	0.53973	0.23898204	0.46782	0.28000823	0.53972	-10.169	0.75395	D	.	.	0.999	0.97850	P	.;.;.;.	.;.;.;.	2.657274	0.34614	19.67	0.98290965241646433	0.39945	0.61656	0.31549	D	AEFDGBCI	0.174311	0.30144	N	-0.364233240025595	0.26751	1.462465	-0.508390567796062	0.21925	1.188392	0.999999328378259	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.03	-1.2	0.09062	0.570000	0.23357	-2.019000	0.04336	-0.133000	0.13014	0.848000	0.30412	0.000000	0.08366	0.904000	0.43992	0.0:0.4969:0.0:0.5031	12.469	0.55116	730	0.54327	.;.;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.000000	0.08333	3853.83	37	chr18	74634091	.	T	G	3853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.64;DP=887;ExcessHet=0;FS=0.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.375;SOR=0.734	GT:AD:DP:GQ:PL	0/1:162,140:302:99:3864,0,4453	5	0	1	0
chr18	77009905	77009905	G	A	exonic	MBP	.	nonsynonymous SNV	MBP:NM_001025081:exon2:c.C199T:p.R67W,MBP:NM_002385:exon2:c.C199T:p.R67W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0159278314198	7.7e-05	0.000798722	0.0015	0	0	0	0	0.0002	0	0.0059	0.0004528	70	154602	rs371896595	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	2.374e-05	0	0	0	0.0018	7.44e-05	0.0005	0.0036	0.0001	0.0001	8.993e-05	0.0002	0.0021	9.141e-05	7.698e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0	0.0001	0	0.0021	0.003	0.68238	D	0.002	0.79402	D	0.998	0.73220	D	0.9	0.63913	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.6	0.38540	N	0.244	0.27554	-0.7690	0.56912	T	0.087	0.33830	T	8	0.00802061	0.00182	T	0.015928	0.36930	T	0.247	0.55478	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.034	0.23104	T	-0.417368	0.01778	T	-0.374086	0.36413	T	0.164649188608182	0.18209	T	0.880812	0.59928	D	.	.	.	.	.	.	.	.	-7.337	0.57406	T	.	.	0.131	0.41903	B	.;.;.	.;.;.	1.550014	0.19867	14.48	0.94398394232858274	0.24786	0.24218	0.22325	N	AEFDBCI	0.264710	0.38199	N	-0.376129592327675	0.26322	1.435683	-0.511468852530715	0.21841	1.183481	0.999905535769677	0.45458	0.498214	0.20090	0	0.572659	0.20510	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	-6.84	0.01527	-1.231000	0.03049	-0.039000	0.12693	0.608000	0.46601	0.731000	0.28933	0.887000	0.27779	0.996000	0.76049	0.1108:0.2074:0.5119:0.17	3.835	0.08400	847	0.35998	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001545	0.000000	0.001374	0.002976	0.000000	0.000000	0.000000	0.003817	0.08333	305.83	37	chr18	77009905	.	G	A	305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=198;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.904;SOR=1.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	5	0	1	0
chr18	78994584	78994584	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2593A:p.V865M	.	418	1083	21	0	0	21	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0057	0.00499201	0.0063	0.0017	0.0032	0.0001	0.0026	0.0078	0.0024	0.0102	0.0060478	935	154602	rs139777889	0.0077	0.0077	0.0076	0.0077	0.0132	0.0075	0.0075	0.0108	0.0099	0.0011	0.0035	0.0013	2.521e-05	0.0024	0.0132	0.0085	0.0080	0.0091	0.0055	0.0055	0.0055	0.0054	0.0098	0.0051	0.0050	0.0078	0.0076	0.0017	0	0.0064	0.0012	0.0002	0.0027	0	0.0084	0.0048	0.0098	0.084	0.32929	T	0.311	0.24193	T	0.089	0.25085	B	0.007	0.12992	B	0.392044	0.13242	N	0.640689	1	0.08975	N	-0.2	0.04182	N	3.2	0.09915	T	-0.98	0.25986	N	0.071	0.04426	-0.9937	0.31643	T	0.008	0.02926	T	10	0.0037801266	0.00070	T	.	.	.	0.040	0.10527	.	.	0.197625483188	0.19356	0.1434755882111462	0.14270	0.402279318707	0.41185	0.217062205076	0.01147	T	0.013241	0.32070	T	-0.74162	0.00020	T	-0.830243	0.01258	T	0.00211964490454904	0.00022	T	0.756924	0.41972	T	0.03708445	0.04688	0.041662402	0.04785	0.03708445	0.04688	0.041662402	0.04785	-3.798	0.22693	T	.	.	0.086	0.10739	B	.;.;.;.	.;.;.;.	0.712529	0.10815	7.496	0.7338969917002045	0.10310	0.06484	0.12493	N	AEFDBI	0.090973	0.18432	N	-1.39379364265766	0.02696	0.119399	-1.44644555773359	0.02802	0.1295701	0.999381314741562	0.39415	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.49	-5.98	0.02034	-0.235000	0.09031	-0.714000	0.07736	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.5063:0.2986:0.1951:0.0	8.865	0.34439	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006552	0.000000	0.009537	0.000000	0.000000	0.008621	0.012195	0.000000	0.08333	1012.83	37	chr18	78994584	.	G	A	1012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=281;ExcessHet=0;FS=1.814;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.844;SOR=0.488	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1023,0,1049	5	0	1	0
chr18	79411164	79411164	G	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G889A:p.D297N,NFATC1:NM_001278670:exon2:c.G889A:p.D297N,NFATC1:NM_001278672:exon2:c.G850A:p.D284N,NFATC1:NM_001278675:exon2:c.G850A:p.D284N,NFATC1:NM_006162:exon2:c.G889A:p.D297N,NFATC1:NM_172387:exon2:c.G850A:p.D284N,NFATC1:NM_172389:exon2:c.G850A:p.D284N,NFATC1:NM_172390:exon2:c.G889A:p.D297N	.	423	1092	7	0	0	7	0.00319489	.	.	.	727817	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.369	.	0.0006	0.00259585	0.0009	0.0001	0.0008	0.0049	0	0.0007	0.0024	0.0004	0.0008021	124	154602	rs76525142	0.0010	0.0010	0.0010	0.0010	0.0184	0.0010	0.0009	0.0173	0.0168	0.0001	0.0009	0.0004	0.0184	3.864e-05	0.0064	0.0005	0.0011	0.0004	0.0007	0.0007	0.0008	0.0006	0.0083	0.0006	0.0005	0.0064	0.0057	9.621e-05	0	0.0003	0.0006	0.0083	0	0	0.0006	0.0005	0.0012	0.05	0.41637	D	0.085	0.69154	T	0.985	0.61118	D	0.647	0.52336	P	0.000635	0.42799	D	0.262361	0.999981	0.81001	D	2.6	0.76081	M	-1.21	0.78645	T	-2.45	0.56630	N	0.405	0.46835	-0.1092	0.79886	T	0.366	0.72620	T	10	0.010182321	0.00228	T	.	.	.	0.369	0.68844	.	.	0.781335839245	0.77931	0.3314206422243107	0.33055	0.690193461659	0.60522	0.597861468792	0.52602	T	0.113465	0.85550	T	-0.321469	0.06779	T	-0.234552	0.51328	T	0.0697725894504532	0.08619	T	0.962304	0.88413	D	0.11334826	0.26770	0.12698059	0.30574	0.11334826	0.26770	0.12698059	0.30573	-13.719	0.92744	D	.	.	0.164	0.42022	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.122557	0.85684	28.7	0.99859950430616551	0.93820	0.99463	0.96341	D	AEFDBI	0.869276	0.78973	D	0.590775566515301	0.72599	5.831061	0.539892484194243	0.70698	5.543439	0.99999999999988	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	9.605000	0.97771	11.698000	0.94457	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.396	0.90443	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005544	0.005102	0.000000	0.011696	0.000000	0.000000	0.015244	0.007576	0.08333	1684.83	59	chr18	79411164	.	G	A	1684.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.325;DP=432;ExcessHet=0;FS=0.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.492;SOR=0.617	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	5	0	1	0
chr18	79486367	79486367	C	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278673:exon8:c.C796A:p.P266T,NFATC1:NM_172388:exon8:c.C796A:p.P266T,NFATC1:NM_001278669:exon9:c.C2212A:p.P738T,NFATC1:NM_006162:exon9:c.C2212A:p.P738T,NFATC1:NM_172387:exon9:c.C2173A:p.P725T,NFATC1:NM_172389:exon9:c.C2173A:p.P725T	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0318305068709	.	.	1.657e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs750139191	2.464e-05	2.463e-05	2.588e-05	2.34e-05	0.0009	1.804e-05	1.601e-05	0.0003	0.0002	8.961e-05	0	0	0	0	0.0009	1.799e-05	9.937e-05	2.319e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.262	0.16738	T	0.159	0.37589	T	0.165	0.28508	B	0.041	0.23986	B	0.000766	0.41888	D	0.229842	0.999783	0.81001	D	1.555	0.39373	L	2.02	0.21119	T	-1.56	0.44284	N	0.535	0.56833	-1.0980	0.04341	T	0.032	0.13548	T	10	0.1578762	0.29700	T	0.031831	0.53814	D	0.095	0.27398	0.211	0.12923	0.253981072376	0.25009	0.23337347957106974	0.23252	0.356953123442	0.37425	0.478907972574	0.35907	T	0.31994	0.69118	T	-0.220258	0.17958	T	-0.457308	0.26893	T	0.0726464092731476	0.09017	T	0.89941	0.65680	D	0.09842042	0.23214	0.07021729	0.14893	0.09842042	0.23214	0.07021729	0.14892	-4.836	0.36414	T	.	.	0.068	0.06159	B	.;.;.;.;.;.	.;.;.;.;.;.	1.322322	0.17263	13.06	0.70741784318513912	0.09395	0.93606	0.58678	D	AEFDBI	0.343004	0.43897	N	-0.795105203905039	0.13437	0.6619339	-0.718800801226384	0.16492	0.8727317	0.999999717665849	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.654926	0.60358	0	.	.	4.66	3.78	0.42629	3.363000	0.52044	3.068000	0.36188	-0.216000	0.08207	0.982000	0.35529	0.993000	0.31925	0.000000	0.00833	0.0:0.9221:0.0:0.0779	13.192	0.59138	.	.	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1168.83	116	chr18	79486367	.	C	A	1168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.074;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.859;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	5	0	1	0
chr19	408325	408325	G	A	exonic	C2CD4C	.	nonsynonymous SNV	C2CD4C:NM_001136263:exon2:c.C37T:p.R13W	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	.	.	0.00159744	0.0033	0.0006	0.0065	0	0.0018	0.0032	0.0116	0.0040	0.0011772	182	154602	rs184993923	0.0042	0.0040	0.0043	0.0042	0.0063	0.0041	0.0041	0.0047	0.0046	0.0009	0.0024	7.985e-05	0	0.0014	0.0063	0.0048	0.0038	0.0042	0.0031	0.0031	0.0032	0.0030	0.0048	0.0029	0.0028	0.0044	0.0042	0.0010	0	0.0037	0	0	0.0024	0	0.0048	0.0033	0.0037	0.005	0.63226	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	U	0.000000	0.999988	0.54805	D	2.865	0.83145	M	-1.18	0.78314	T	-4.67	0.79571	D	0.507	0.53884	0.037	0.82983	D	0.466	0.79400	T	10	0.01715219	0.00365	T	.	.	.	0.597	0.84019	.	.	0.597153157781	0.59395	0.6444122939753404	0.64376	.	.	0.882273554802	0.94264	D	0.259927	0.63124	T	-0.155467	0.27459	T	0.00651821	0.70757	D	0.045585966587592	0.04708	T	0.89491	0.63503	D	0.41155416	0.61524	0.19189295	0.42674	0.41155416	0.61525	0.19189295	0.42673	-5.526	0.42110	T	.	.	0.300	0.52953	B	.	.	4.444749	0.69046	25.3	0.99903675585674212	0.97502	0.58178	0.30572	D	AEFDBI	0.425607	0.49030	N	0.286642909147022	0.55471	3.711124	0.135149387963788	0.46360	2.883249	0.913922079582061	0.26438	0.635344	0.42169	0	0.547309	0.14657	0	0.654045	0.52621	0	0.562822	0.20929	0	.	.	3.2	1.96	0.25203	2.336000	0.43597	6.980000	0.57122	0.562000	0.28470	0.334000	0.25623	1.000000	0.68203	0.150000	0.20306	0.0:0.0:0.8062:0.1938	11.454	0.49417	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004090	0.000000	0.000000	0.008475	0.000000	0.029412	0.000000	0.009434	0.08333	530.83	36	chr19	408325	.	G	A	530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.838;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-2.076;SOR=0.565	GT:AD:DP:GQ:PL	0/1:36,24:60:99:541,0,967	5	0	1	0
chr19	440874	440874	G	A	exonic	SHC2	.	nonsynonymous SNV	SHC2:NM_012435:exon2:c.C527T:p.T176M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.102397212717	0.0002	0.000399361	0.0006	0.0001	0.0007	0.0001	0.0002	0.0008	0	0	0.0005239	81	154602	rs199803042	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	8.961e-05	0.0003	3.827e-05	0.0003	3.825e-05	0.0009	0.0004	0.0003	6.956e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	7.216e-05	0	0.0003	0	0	0.0002	0	0.0007	0.0009	0	0.025	0.47320	D	0.022	0.57587	D	0.975	0.58077	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	2.16	0.60381	M	2.27	0.17431	T	-5.09	0.82961	D	0.839	0.83473	-0.8221	0.53802	T	0.127	0.43380	T	10	0.5746636	0.65512	D	0.102397	0.77584	D	0.356	0.67691	.	.	0.694901579572	0.69227	0.25348217820197827	0.25262	0.419145018288	0.42472	0.792727351189	0.80857	T	0.46907	0.80275	T	-0.29354	0.09284	T	-0.282373	0.46561	T	0.16927861649253	0.18531	T	0.963304	0.86380	D	0.4058032	0.61133	0.25933117	0.51680	0.4058032	0.61133	0.25933117	0.51679	-9.12	0.68466	D	.	.	0.503	0.64704	A	.	.	4.559010	0.71827	25.7	0.9986843475940671	0.94637	0.97620	0.75953	D	AEFDBI	0.926699	0.90822	D	0.565746951007501	0.71047	5.591759	0.390716392838105	0.60992	4.293235	0.999999817705306	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.2	3.2	0.35826	9.339000	0.96442	11.316000	0.92519	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.371000	0.26133	0.0:0.0:1.0:0.0	12.669	0.56222	988	0.01987	PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like|PTB/PI domain|PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1028.83	34	chr19	440874	.	G	A	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.682;DP=232;ExcessHet=0;FS=2.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.53;SOR=0.374	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	5	0	1	0
chr19	578038	578038	G	A	exonic	BSG	.	nonsynonymous SNV	BSG:NM_001728:exon2:c.G332A:p.S111N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.227855229749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.034	0.52727	D	1.0	0.90584	D	0.999	0.92359	D	0.000063	0.52346	U	0.131572	0.923072	0.81001	D	1.94	0.52218	M	-0.3	0.67874	T	-1.96	0.45404	N	0.628	0.64223	-0.3528	0.73472	T	0.421	0.76616	T	10	0.68514407	0.71516	D	0.227855	0.88111	D	0.238	0.54217	0.37	0.38013	0.591935788922	0.58870	0.3360441568770907	0.33517	0.629556986367	0.56987	0.685029149055	0.64991	T	0.226696	0.59179	T	-0.0942771	0.37369	T	-0.373199	0.36516	T	0.949046730995178	0.63027	D	0.647535	0.25853	T	0.6619053	0.76001	0.43346393	0.66898	0.6619053	0.76002	0.43346393	0.66898	-10.247	0.75377	D	.	.	0.926	0.84705	P	.	.	4.601714	0.72891	25.9	0.99474481516006696	0.66525	0.80196	0.39898	D	AEFBCI	0.359090	0.44954	N	0.378627781898117	0.60265	4.213627	0.241043926269915	0.52140	3.391017	0.999968810575076	0.48965	0.729952	0.87565	0	0.552637	0.17590	0	0.877121	0.99996	0	0.491896	0.07777	0	.	.	2.86	1.79	0.23992	4.436000	0.59691	5.320000	0.48288	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1193:0.0:0.8807:0.0	8.784	0.33968	994	0.00715	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	.	.	.	.	.	.	.	.	0.08333	1409.83	37	chr19	578038	.	G	A	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.315;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.999;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	5	0	1	0
chr19	740436	740436	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_002579:exon8:c.G587A:p.R196Q	.	377	1111	30	4	0	38	0.0168142	.	.	.	1621028	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0034	0.00179712	0.0070	0.0019	0.0025	0	0	0.0056	0.0110	0.0108	0.0025873	400	154602	rs149788617	0.0053	0.0053	0.0052	0.0055	0.0109	0.0052	0.0052	0.0103	0.0101	0.0008	0.0032	0.0044	0.0001	0.0012	0.0054	0.0055	0.0050	0.0109	0.0032	0.0032	0.0032	0.0033	0.0120	0.0030	0.0029	0.0095	0.0086	0.0012	0	0.0016	0.0023	0	0.0015	0.0034	0.0049	0.0028	0.0120	0.396	0.10623	T	0.555	0.09555	T	0.038	0.21002	B	0.003	0.08700	B	0.726794	0.09889	N	0.878657	1	0.81001	D	0.53	0.13656	N	2.03	0.20959	T	0.1	0.05810	N	0.131	0.16028	-0.9859	0.33615	T	0.034	0.14683	T	10	0.0061908364	0.00139	T	.	.	.	0.073	0.21317	.	.	0.243972157842	0.24002	0.20475948709286385	0.20392	0.171325869672	0.19303	0.240267768502	0.02815	T	0.018994	0.15211	T	-0.556514	0.00266	T	-0.564209	0.15984	T	0.0147694696718444	0.00309	T	0.780422	0.41514	T	0.026782995	0.01780	0.029422328	0.01278	0.026782995	0.01780	0.029422328	0.01278	-1.811	0.02542	T	.	.	0.062	0.01387	B	.;.	.;.	2.754484	0.36112	20.2	0.96348052000919482	0.29506	0.73002	0.35716	D	AEFDBHCI	0.180948	0.30826	N	-0.40913207807163	0.25149	1.363026	-0.322086197029723	0.27385	1.519283	0.99999999595144	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.96	1.55	0.22356	3.714000	0.54618	7.239000	0.57895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.5439:0.0:0.4561:0.0	4.463	0.11095	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004707	0.000000	0.002786	0.000000	0.000000	0.000000	0.003311	0.019231	0.25	3906.03	36	chr19	740436	.	G	A	3906.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.51;DP=395;ExcessHet=1.383;FS=15.571;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.063;SOR=1.382	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1175,0,1172	3	0	3	0
chr19	868108	868108	C	G	exonic	MED16	.	nonsynonymous SNV	MED16:NM_005481:exon16:c.G2627C:p.R876P	.	425	1067	30	0	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0076	0.00399361	0.0090	0.0035	0.0029	0.0001	0.0038	0.0130	0.0088	0.0069	0.0081047	1253	154602	rs147510499	0.0095	0.0095	0.0094	0.0097	0.0133	0.0094	0.0093	0.0108	0.0103	0.0022	0.0037	0.0269	2.521e-05	0.0036	0.0133	0.0105	0.0083	0.0060	0.0075	0.0075	0.0074	0.0076	0.0119	0.0071	0.0070	0.0112	0.0109	0.0020	0.0066	0.0050	0.0239	0	0.0026	0.0102	0.0119	0.0118	0.0048	0.0	0.91255	D	0.025	0.56192	D	0.146	0.27821	B	0.011	0.15521	B	0.042390	0.01905	N	3.220600	1	0.08975	N	0	0.06538	N	1.36	0.34452	T	-0.05	0.07736	N	0.117	0.19325	-1.0405	0.17162	T	0.034	0.14552	T	10	0.0022740662	0.00033	T	.	.	.	0.011	0.01250	.	.	0.0482279557977	0.04254	0.3392394637746466	0.33836	.	.	0.239911496639	0.02783	T	0.033685	0.23013	T	-0.565992	0.00234	T	-0.575397	0.14959	T	0.00780645400498342	0.00091	T	0.268873	0.04498	T	0.1468006	0.33589	0.11648169	0.28118	0.1468006	0.33588	0.11648169	0.28117	-2.904	0.09183	T	.	.	0.088	0.54961	B	.;.;.	.;.;.	-0.013505	0.04192	1.017	0.83938401413453423	0.15004	0.02277	0.06569	N	AEFBCI	0.054650	0.09954	N	-1.71477409777989	0.00790	0.03415921	-1.82465292834229	0.00683	0.03041107	0.999943868519029	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	0.84	-1.68	0.07773	-0.534000	0.06238	-1.958000	0.04434	-2.637000	0.00226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3511:0.0:0.6489	5.483	0.16026	994	0.00715	.;.;.	CFD	Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016244	0.015464	0.016349	0.026471	0.050000	0.000000	0.015625	0.015267	0.08333	84.83	35	chr19	868108	.	C	G	84.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.641;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-0.743;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,496:.	5	0	1	0
chr19	1003349	1003349	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon2:c.C646T:p.R216W	.	422	1061	35	4	0	43	0.0198614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0011	0.00259585	0.0039	0.0008	0.0005	0.0003	0	0.0017	0.0147	0.0137	0.0013907	215	154602	rs186778870	0.0010	0.0011	0.0008	0.0013	0.0081	0.0010	0.0010	0.0076	0.0074	0.0002	0.0005	0.0019	5.219e-05	0	0.0048	0.0006	0.0014	0.0081	0.0009	0.0009	0.0007	0.0011	0.0091	0.0008	0.0007	0.0070	0.0062	0.0002	0	0.0010	0.0035	0	0	0	0.0009	0.0009	0.0091	0.061	0.37118	T	0.127	0.35082	T	0.979	0.59044	D	0.252	0.39069	B	0.339006	0.04176	U	1.561990	1	0.08975	N	1.59	0.40313	L	2.76	0.11515	T	-0.98	0.25986	N	0.184	0.19995	-0.9718	0.36819	T	0.019	0.07800	T	10	0.006773919	0.00154	T	.	.	.	0.070	0.20419	.	.	0.396044805602	0.39223	0.40497727324869415	0.40413	0.33433436957	0.35451	0.742625892162	0.73360	T	0.192655	0.54787	T	-0.593157	0.00160	T	-0.619959	0.11189	T	0.0161656329308806	0.00392	T	0.70483	0.31518	T	0.06804001	0.14790	0.049404286	0.07543	0.06804001	0.14789	0.049404286	0.07542	-8.27	0.62895	D	.	.	0.107	0.20078	B	.	.	2.310768	0.29582	18.17	0.99747818164571589	0.84002	0.14887	0.18636	N	AEFDBCI	0.171133	0.29808	N	-0.64841780993473	0.17507	0.9014388	-0.806597548780862	0.14337	0.7485406	8.135302757185E-4	0.07857	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.44	1.05	0.19280	-0.022000	0.12424	0.935000	0.22809	0.523000	0.23987	0.000000	0.06391	0.464000	0.25017	0.010000	0.09038	0.1943:0.6175:0.1882:0.0	7.225	0.25185	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004611	0.000000	0.004087	0.000000	0.000000	0.008929	0.012422	0.003788	0.1667	1222.06	35	chr19	1003349	.	C	T	1222.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=215;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:16,22:38:99:614,0,336	4	0	2	0
chr19	1109420	1109420	G	A	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon26:c.C3049T:p.R1017C,SBNO2:NM_014963:exon29:c.C3220T:p.R1074C	.	431	1081	8	1	1	11	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0783148442791	.	.	0.0012	0	0.0016	0	0	0.0002	0.0057	0.0025	0.0002005	31	154602	rs775972341	0.0002	0.0002	0.0001	0.0004	0.0033	0.0002	0.0002	0.0023	0.0022	0.0002	5.406e-05	0	0	2.071e-05	0.0033	7.631e-05	0.0004	0.0026	0.0001	0.0001	8.994e-05	0.0001	0.0023	6.507e-05	5.319e-05	0.0013	0.0010	2.405e-05	0	6.533e-05	0	0	0	0	4.411e-05	0	0.0023	0.009	0.57480	D	0.041	0.50514	D	1.0	0.90584	D	0.912	0.72692	D	0.001593	0.38554	N	0.191768	0.999894	0.50595	D	2.94	0.84723	M	.	.	.	-5.19	0.83625	D	0.876	0.90251	-0.1749	0.78308	T	0.420	0.76583	T	9	0.44979727	0.58626	T	0.078315	0.72975	D	0.296	0.61616	0.808	0.92512	0.38225645794	0.37833	0.8383123977345767	0.83791	1.29012888317	0.82767	0.624952733517	0.56430	T	0.454623	0.79410	T	-0.186372	0.22792	T	-0.0444774	0.67398	D	0.171562344448835	0.18686	T	.	.	.	0.1378821	0.31910	0.18632546	0.41798	0.1378821	0.31910	0.18632546	0.41797	-8.795	0.66368	D	.	.	0.574	0.67789	P	.;.;.	.;.;.	4.338824	0.66545	25.0	0.99800878890138678	0.88550	0.77256	0.37965	D	AEFDBHCI	0.369364	0.45612	N	0.254234883506748	0.53848	3.552101	0.0515057502599371	0.42146	2.544077	0.999999988795181	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.71	2.58	0.30011	4.593000	0.60743	7.201000	0.57798	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.1784:0.0:0.8216:0.0	9.181	0.36302	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	841.83	42	chr19	1109420	.	G	A	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=289;ExcessHet=0;FS=1.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.054;SOR=0.923	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1149	5	0	1	0
chr19	1487681	1487681	G	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon6:c.C604T:p.R202C	.	417	1103	1	1	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728	0.426736920972	7.9e-05	.	0.0001	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs146775660	1.712e-05	2.052e-05	1.409e-05	2.023e-05	3.135e-05	1.158e-05	9.73e-06	1.35e-06	9.8e-07	3.135e-05	0	0.0006	0	0	0	4.623e-06	3.438e-05	1.256e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	0	0.0006	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.209586	0.16398	U	0.469632	0.999996	0.58761	D	3.7	0.94612	H	-2.35	0.88066	D	-7.31	0.94511	D	0.959	0.96871	0.876	0.95359	D	0.848	0.94943	D	10	0.94398916	0.93723	D	0.426737	0.93902	D	0.728	0.90457	.	.	0.875011096909	0.87379	0.7403572531336196	0.73980	0.871681035601	0.69423	0.705338895321	0.67917	T	0.682612	0.90695	D	0.212452	0.75060	D	0.0782149	0.75458	D	0.989263117313385	0.79511	D	0.972103	0.89869	D	0.78514683	0.82971	0.6486553	0.79449	0.78514683	0.82973	0.6486553	0.79450	-12.046	0.85074	D	.	.	0.513	0.65158	A	.	.	6.111958	0.94587	34	0.99905662908807114	0.97651	0.89625	0.50209	D	AEFBI	0.802996	0.72826	D	0.632391579965624	0.75235	6.270078	0.461971118722644	0.65488	4.830301	0.174942045813336	0.17791	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.4	2.4	0.28568	7.377000	0.78939	11.575000	0.93308	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	12.420	0.54849	970	0.06235	Peptidase S8/S53 domain|Kexin/furin catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1009.83	34	chr19	1487681	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.126;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1424	5	0	1	0
chr19	1491331	1491331	T	C	exonic	REEP6	.	nonsynonymous SNV	REEP6:NM_001329556:exon1:c.T62C:p.V21A,REEP6:NM_138393:exon1:c.T62C:p.V21A	Retinitis pigmentosa 77, Autosomal recessive	409	1111	2	0	0	2	0.000899281	.	.	.	958564	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0114930839127	.	.	8.222e-05	0	0	0	0	0	0.0098	0	6.5e-06	1	154602	rs746879220	2.257e-05	2.189e-05	2.818e-05	1.679e-05	0.0001	1.601e-05	1.39e-05	3.267e-05	1.705e-05	0	0.0001	0	0	0	0	2.289e-05	1.825e-05	2.801e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.557	0.06441	T	0.543	0.09655	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.725	0.01781	N	0.87	0.46412	T	-0.19	0.09965	N	0.034	0.00942	-0.9949	0.31326	T	0.038	0.16462	T	9	0.024297625	0.00664	T	0.011493	0.29167	T	0.022	0.04323	0.295	0.25881	0.0482279557977	0.04254	0.21103065093504084	0.21019	0.289394105222	0.31353	0.707965493202	0.68298	T	.	.	.	-0.368027	0.03695	T	-0.766422	0.02887	T	0.0171201235328612	0.00458	T	0.145985	0.01199	T	.	.	.	.	.	.	.	.	-0.907	0.00902	T	.	.	0.089	0.12132	B	.	.	1.234813	0.16299	12.45	0.57012111213252514	0.05676	0.10028	0.15645	N	ALL	0.285285	0.39794	N	-1.46946525359638	0.02068	0.09094556	-1.43895337600375	0.02871	0.1329004	0.999999999960827	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	4.04	-0.589	0.11097	0.254000	0.18084	0.514000	0.19106	-0.725000	0.03763	0.005000	0.17040	0.546000	0.25442	0.045000	0.14751	0.0:0.3992:0.0:0.6008	7.033	0.24156	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1509.83	96	chr19	1491331	.	T	C	1509.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.937;DP=256;ExcessHet=0;FS=1.746;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.398;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1016	5	0	1	0
chr19	1507271	1507271	C	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon9:c.G823A:p.G275R,ADAMTSL5:NM_001367197:exon10:c.G853A:p.G285R	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	.	0.0025	0.00299521	0.0021	0.0005	0.0010	0.0001	0.0006	0.0021	0.0013	0.0081	0.0021216	328	154602	rs149051157	0.0029	0.0028	0.0028	0.0029	0.0072	0.0028	0.0028	0.0067	0.0065	0.0003	0.0010	0.0005	5.097e-05	0.0008	0.0007	0.0029	0.0032	0.0072	0.0017	0.0017	0.0018	0.0016	0.0085	0.0015	0.0015	0.0065	0.0057	0.0004	0	0.0011	0	0.0002	0.0005	0	0.0025	0.0043	0.0085	0.001	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000613	0.42945	D	0.201120	0.999498	0.48338	D	.	.	.	0.37	0.57729	T	-6.98	0.95815	D	0.931	0.93605	-0.3610	0.73234	T	0.327	0.69513	T	10	0.011863172	0.00257	T	.	.	.	0.448	0.74935	.	.	0.722145232134	0.71969	0.9284335451052194	0.92821	0.568765040297	0.53076	0.672428131104	0.63184	T	0.19599	0.57064	T	-0.18831	0.22507	T	-0.0380023	0.67836	D	0.0417845508722444	0.04015	T	0.865913	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.82640	P	.;.;.	.;.;.	4.608620	0.73068	25.9	0.9990774102145269	0.97801	0.93728	0.59021	D	AEFGBCI	0.823010	0.74321	D	0.554114886809907	0.70332	5.486156	0.426002009226478	0.63189	4.547922	0.999999903731958	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	4.543000	0.60395	7.480000	0.59248	0.469000	0.21855	0.982000	0.35529	1.000000	0.68203	0.059000	0.15899	0.0:0.8927:0.0:0.1073	8.666	0.33280	970	0.06235	ADAM-TS Spacer 1;ADAM-TS Spacer 1;ADAM-TS Spacer 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	579.83	42	chr19	1507271	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.181;DP=218;ExcessHet=0;FS=8.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.735;SOR=0.082	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1258	5	0	1	0
chr19	1817260	1817260	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon12:c.G3160A:p.G1054R	.	.	.	.	.	.	.	.	.	.	.	3312546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.0131977011892	0.0002	0.000798722	0.0004	9.756e-05	0.0013	0.0002	0	0.0003	0.0022	0.0008	0.0003622	56	154602	rs183172046	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	2.987e-05	0.0007	0	0.0003	1.905e-05	0	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0002	0.0001	0	0.0003	0	0.0010	9.414e-05	0	0.0002	0	0.0006	0.506	0.07594	T	0.492	0.11479	T	0.003	0.11197	B	0.003	0.08700	B	0.664613	0.10396	N	0.855587	1	0.08975	N	0.11	0.08516	N	2.69	0.12268	T	0.45	0.03191	N	0.229	0.25745	-0.9198	0.45581	T	0.012	0.04700	T	10	0.006639391	0.00150	T	0.013198	0.32416	T	0.024	0.04979	0.304	0.27325	0.043077524339	0.03247	0.42615965812360346	0.42532	0.112976676807	0.12750	0.331660717726	0.15185	T	0.011997	0.10618	T	-0.672739	0.00053	T	-0.811924	0.01622	T	0.0113257500524287	0.00168	T	0.0444955	0.00313	T	0.032296497	0.03227	0.047510408	0.06858	0.032296497	0.03227	0.047510408	0.06858	-2.448	0.05436	T	.	.	0.090	0.12560	B	.;.	.;.	1.487781	0.19140	14.11	0.49331518958582654	0.04192	0.07418	0.13437	N	AEFBI	0.078116	0.15754	N	-1.32329199983808	0.03410	0.1522793	-1.29270176460032	0.04528	0.2138124	6.61573971222598E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.94	0.426	0.15694	1.301000	0.33052	0.533000	0.19265	0.515000	0.23462	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.5706:0.0:0.4294	6.732	0.22577	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	483.83	34	chr19	1817260	.	C	T	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.75;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.83;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1112	5	0	1	0
chr19	1912166	1912166	C	T	exonic	ADAT3	.	nonsynonymous SNV	ADAT3:NM_001329533:exon2:c.C71T:p.A24V,ADAT3:NM_138422:exon2:c.C119T:p.A40V	Mental retardation, autosomal recessive 36, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3656836	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00151124604191	7.8e-05	0.000199681	0.0008	0	0.0050	0	0	0.0008	0	0.0008	0.0002652	41	154602	rs201103825	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0003	3.084e-05	0.0006	0	0.0002	4.613e-05	0	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0003	0	0	9.407e-05	0	0.0002	0	0.0004	.	.	.	0.309	0.21277	T	.	.	.	.	.	.	0.186377	0.16965	N	0.549745	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.063	0.03502	-1.0503	0.14313	T	0.052	0.21960	T	9	0.0059817433	0.00134	T	0.001511	0.02343	T	0.033	0.08068	.	.	0.237489013734	0.23353	0.1829690697332961	0.18215	0.390860332694	0.40290	0.444932311773	0.31252	T	0.010952	0.09835	T	-0.50803	0.00515	T	-0.608945	0.12071	T	0.0036720207426697	0.00039	T	0.344566	0.07542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04558	B	.;.	.;.	-0.085305	0.03728	0.769	0.84071935609169113	0.15080	0.02210	0.06441	N	AEFDBI	0.035397	0.04548	N	-1.51104746711663	0.01777	0.07783318	-1.64374796253983	0.01409	0.06367045	0.999870821993131	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.79	-7.09	0.01399	-0.660000	0.05416	-7.582000	0.01127	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1245:0.2905:0.1235:0.4615	2.302	0.03910	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	0.002556	0.000000	0.001370	0.005917	0.000000	0.008621	0.000000	0.003876	0.08333	245.83	35	chr19	1912166	.	C	T	245.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.481;DP=195;ExcessHet=0;FS=14.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.354;SOR=0.012	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1060	5	0	1	0
chr19	1924204	1924204	C	G	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon6:c.C478G:p.Q160E,SCAMP4:NM_001329540:exon6:c.C508G:p.Q170E,SCAMP4:NM_079834:exon7:c.C610G:p.Q204E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.037039838505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	3.42e-06	1.365e-06	5.521e-06	0.0002	1.01e-06	7.3e-07	9.33e-06	4.59e-06	0	0	0	0	0	0.0002	0	1.661e-05	3.512e-05	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	0.132	0.28646	T	0.335	0.18286	T	0.717	0.45487	P	0.17	0.41729	B	.	.	.	.	0.786014	0.34326	D	2.2	0.62015	M	2.31	0.29866	T	-0.86	0.23372	N	0.395	0.45992	-0.8949	0.48493	T	0.079	0.31314	T	9	0.15624866	0.29431	T	0.03704	0.57367	D	0.104	0.29647	0.239	0.17065	0.186928172975	0.18263	0.924788834268988	0.92455	0.107495780972	0.12131	0.422066152096	0.28121	T	0.028514	0.20638	T	-0.119014	0.33286	T	-0.408732	0.32373	T	0.639011561870575	0.37995	D	0.848415	0.52967	T	0.27028242	0.50100	0.18617877	0.41774	0.27028242	0.50100	0.18617877	0.41774	-3.397	0.15016	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	2.745327	0.35970	20.1	0.98386916772072608	0.40915	0.89764	0.50441	D	AEFBI	0.685582	0.64754	D	0.263049172252893	0.54288	3.594675	0.313149463886471	0.56312	3.794357	0.999998181195225	0.74766	0.744818	0.98587	0	0.698795	0.70079	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	6.499000	0.73589	7.530000	0.59902	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:1.0:0.0:0.0	17.208	0.86806	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	946.83	39	chr19	1924204	.	C	G	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.184;DP=263;ExcessHet=0;FS=1.936;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.278;SOR=0.748	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr19	2733014	2733014	C	A	exonic	SLC39A3	.	nonsynonymous SNV	SLC39A3:NM_144564:exon3:c.G682T:p.D228Y	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0146639603769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.595e-06	8.896e-06	2.744e-06	1.251e-05	9.379e-05	4.08e-06	2.98e-06	4.623e-05	3.404e-05	0	0	0	0	0	0	0	5.029e-05	9.379e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.107	0.29823	T	0.056	0.46632	T	0.603	0.39389	P	0.157	0.38752	B	0.002367	0.36688	N	0.284641	0.995716	0.42821	D	1.305	0.32671	L	0.84	0.47477	T	-0.74	0.20791	N	0.637	0.64989	-1.1016	0.03903	T	0.077	0.30676	T	10	0.4118432	0.56277	T	0.014664	0.34921	T	0.111	0.31313	0.543	0.65589	0.535102873643	0.53161	0.8003521281054337	0.79989	0.7458566091	0.63515	0.505363881588	0.39575	T	0.037006	0.24316	T	-0.0959403	0.37096	T	-0.375588	0.36237	T	0.587521553039551	0.35909	D	0.839416	0.51368	T	0.2165478	0.44116	0.12767637	0.30731	0.2165478	0.44116	0.12767637	0.30730	-3.81	0.20954	T	.	.	0.214	0.44240	B	.;.	.;.	3.457311	0.48168	22.6	0.98831253265683094	0.46952	0.88804	0.48910	D	AEFDBI	0.261560	0.37948	N	-0.225976282291676	0.32071	1.80482	-0.115088164221438	0.34780	2.004618	0.834638941175654	0.24755	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.66	3.58	0.40133	2.462000	0.44706	5.972000	0.52016	0.594000	0.32500	0.447000	0.26542	1.000000	0.68203	0.964000	0.52637	0.0:0.8366:0.1634:0.0	13.090	0.58578	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	.	.	.	.	.	.	.	.	0.08333	1307.83	40	chr19	2733014	.	C	A	1307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.733;DP=375;ExcessHet=0;FS=0.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.08;SOR=0.534	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	5	0	1	0
chr19	2877305	2877305	G	A	exonic	ZNF556	.	nonsynonymous SNV	ZNF556:NM_001300843:exon4:c.G344A:p.S115N,ZNF556:NM_024967:exon4:c.G347A:p.S116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00107148895581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.18889	T	0.293	0.23365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.305	0.32671	L	3.44	0.05710	T	-1.54	0.37375	N	0.102	0.08506	-0.9312	0.43963	T	0.011	0.04227	T	9	0.07517427	0.11586	T	0.001071	0.01239	T	0.041	0.10877	0.232	0.16005	0.0806252709748	0.07271	0.01920709523356129	0.01874	0.0555063784113	0.06140	0.328834414482	0.14758	T	0.009702	0.08812	T	-0.451437	0.01108	T	-0.886234	0.00604	T	0.0420879870653152	0.04072	T	0.411359	0.11286	T	0.052162364	0.09688	0.07013381	0.14863	0.052162364	0.09688	0.07013381	0.14863	-7.047	0.54376	T	.	.	0.096	0.22024	B	.;.	.;.	0.614269	0.09830	6.591	0.81189837615518301	0.13563	0.00000	0.00017	N	AEFDBHCI	0.041973	0.06451	N	-1.35614377294062	0.03062	0.1361824	-1.4937739025875	0.02394	0.110067	0.00231386374482801	0.09317	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.97	-3.95	0.03844	-0.343000	0.07838	-5.026000	0.01881	-0.309000	0.06099	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4324:0.177:0.2121:0.1785	0.709	0.00862	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1073.83	39	chr19	2877305	.	G	A	1073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.113;DP=263;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.033;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	5	0	1	0
chr19	2936666	2936666	G	C	exonic	ZNF77	.	nonsynonymous SNV	ZNF77:NM_021217:exon3:c.C169G:p.Q57E	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00693220099052	0.0028	0.00159744	0.0036	0.0005	0.0029	0	0.0014	0.0057	0.0044	0.0001	0.0037063	573	154602	rs144419578	0.0030	0.0030	0.0030	0.0030	0.0068	0.0029	0.0029	0.0051	0.0045	0.0005	0.0028	0.0018	0	0.0013	0.0068	0.0034	0.0034	0.0003	0.0024	0.0024	0.0024	0.0024	0.0036	0.0022	0.0021	0.0033	0.0031	0.0006	0.0154	0.0028	0.0020	0	0.0008	0.0340	0.0036	0.0052	0.0004	0.088	0.32296	T	0.804	0.04017	T	0.996	0.68779	D	0.772	0.56930	P	.	.	.	.	1	0.08975	N	-0.025	0.05070	N	0.83	0.47815	T	-1.34	0.33401	N	0.11	0.09631	-1.0275	0.21266	T	0.091	0.34792	T	9	0.004842311	0.00103	T	0.006932	0.18345	T	0.032	0.07718	.	.	0.528712057427	0.52518	0.01991533953600923	0.01944	0.232649209289	0.25802	0.251366317272	0.03914	T	0.054735	0.29808	T	-0.559301	0.00256	T	-0.571046	0.15353	T	0.014022111860232	0.00271	T	0.246775	0.03632	T	0.073814	0.16520	0.058379594	0.10776	0.073814	0.16520	0.058379594	0.10776	-4.961	0.36414	T	.	.	0.093	0.14062	B	.	.	0.458725	0.08286	5.031	0.16861997051125732	0.00469	0.03022	0.07900	N	AEFBI	0.028748	0.02589	N	-0.680920362626177	0.16566	0.8451485	-0.858840492905418	0.13075	0.6763025	1.53805989778188E-5	0.02871	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	2.52	1.47	0.21832	-0.154000	0.10116	-1.874000	0.04573	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1633:0.0:0.8367:0.0	5.320	0.15185	994	0.00715	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.009146	0.000000	0.08333	2062.83	38	chr19	2936666	.	G	C	2062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=352;ExcessHet=0;FS=4.828;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.186;SOR=0.422	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr19	3760029	3760029	G	A	exonic	APBA3	.	nonsynonymous SNV	APBA3:NM_004886:exon2:c.C236T:p.A79V	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0080	0.00299521	0.0061	0.0016	0.0009	0	0.0030	0.0102	0.0056	0.0006	0.0066235	1024	154602	rs11556574	0.0099	0.0099	0.0102	0.0096	0.0119	0.0098	0.0097	0.0117	0.0117	0.0014	0.0016	0.0130	2.519e-05	0.0030	0.0026	0.0119	0.0091	0.0011	0.0068	0.0068	0.0073	0.0062	0.0125	0.0064	0.0063	0.0118	0.0115	0.0017	0.0033	0.0020	0.0127	0.0002	0.0023	0	0.0125	0.0038	0.0004	0.222	0.18823	T	0.515	0.10643	T	0.008	0.14655	B	0.011	0.15521	B	0.173342	0.03128	N	1.883730	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-0.75	0.21003	N	0.159	0.16586	-1.0431	0.16383	T	0.049	0.21026	T	10	0.0060242116	0.00135	T	.	.	.	0.017	0.02790	.	.	0.428630128466	0.42480	0.10755876107291011	0.10684	0.0528012981762	0.05821	0.277809500694	0.07189	T	0.058741	0.30925	T	-0.667972	0.00056	T	-0.721241	0.04736	T	0.00160722926076062	0.00016	T	0.589941	0.21689	T	0.020213196	0.00573	0.03508607	0.02695	0.020213196	0.00573	0.03508607	0.02695	-4.523	0.31188	T	.	.	0.070	0.03625	B	.	.	0.709685	0.10788	7.470	0.93165470757757418	0.22820	0.02915	0.07720	N	AEFBI	0.039258	0.05677	N	-0.983869815305589	0.08948	0.4215341	-1.01483234891875	0.09459	0.4706969	0.984644244158105	0.30751	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	-0.517	0.11350	-0.824000	0.04545	0.746000	0.21199	0.585000	0.30472	0.000000	0.06391	0.001000	0.17328	0.013000	0.09966	0.0925:0.2707:0.4794:0.1574	3.925	0.08757	970	0.06235	.	MAP2K2	Brain_Hippocampus	.	.	rs11556574	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1667	3828.04	118	chr19	3760029	.	G	A	3828.04	.	AC=2;AF=0.167;AN=12;DP=301;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.44;SOR=1.085	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1245	5	1	0	0
chr19	3808938	3808938	G	T	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_015174:exon17:c.C2479A:p.P827T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0419862557137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-07	6.156e-06	1.396e-06	0	9.15e-07	0	0	.	.	0	0	0	0	0	0	9.15e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.934	0.66904	D	0.000179	0.48594	U	0.084158	0.999715	0.48481	D	2.775	0.80997	M	0.96	0.42888	T	-6.62	0.92128	D	0.396	0.43706	-0.6450	0.62931	T	0.243	0.61177	T	10	0.5302397	0.63142	D	0.041986	0.60223	D	0.304	0.62510	0.554	0.67133	0.603797353847	0.60063	0.3232866154661441	0.32241	0.362057876894	0.37861	0.441840708256	0.30829	T	0.133	0.46326	T	-0.117687	0.33503	T	-0.406825	0.32592	T	0.938236398985911	0.60868	D	0.942406	0.78384	D	0.4715168	0.65383	0.3687828	0.62161	0.4715168	0.65384	0.3687828	0.62161	-6.658	0.51493	T	.	.	0.106	0.19679	B	.	.	3.836479	0.55490	23.6	0.99648881262907019	0.77130	0.96248	0.68218	D	AEFDBI	0.584114	0.58307	D	0.439561961972132	0.63614	4.598505	0.294119167969843	0.55195	3.682801	0.994698522740809	0.33757	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	4.183000	0.58114	1.800000	0.28874	0.613000	0.49114	0.998000	0.41325	0.972000	0.29809	0.014000	0.10232	0.0:0.0:1.0:0.0	11.396	0.49086	982	0.03397	DZF domain|DZF domain|DZF 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	.	.	.	.	.	.	.	.	0.08333	353.83	21	chr19	3808938	.	G	T	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.754;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1104	5	0	1	0
chr19	4352988	4352988	G	A	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon4:c.G623A:p.R208Q,MPND:NM_001300862:exon4:c.G623A:p.R208Q,MPND:NM_032868:exon4:c.G623A:p.R208Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0106944429305	.	.	1.836e-05	0	8.738e-05	0	0	1.584e-05	0	0	1.29e-05	2	154602	rs764454313	2.464e-05	2.873e-05	2.722e-05	2.192e-05	5.051e-05	1.747e-05	1.517e-05	1.556e-05	1.3e-05	3.891e-05	5.051e-05	0	0	0	0	2.337e-05	8.222e-05	2.336e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.411	0.10447	T	0.376	0.18675	T	0.856	0.50336	P	0.16	0.37394	B	0.162462	0.17621	N	0.443854	1	0.08975	N	2.19	0.61577	M	.	.	.	-0.64	0.24244	N	0.179	0.31027	-1.0610	0.11508	T	0.035	0.14857	T	9	0.09201956	0.16167	T	0.010694	0.27515	T	0.041	0.10877	0.15	0.05339	0.361558571881	0.35766	0.3139532280034647	0.31308	0.724540930223	0.62398	0.652531385422	0.60346	T	0.010647	0.09594	T	-0.200023	0.20801	T	-0.525096	0.19778	T	0.19893990457058	0.20358	T	0.89801	0.65873	D	0.020136328	0.00562	0.02653221	0.00748	0.020136328	0.00562	0.02653221	0.00748	-3.463	0.19895	T	.	.	0.084	0.17275	B	.;.;.;.	.;.;.;.	3.946276	0.57785	23.9	0.99369244154356551	0.61368	0.09703	0.15399	N	AEFDGBCIJ	0.149544	0.27365	N	-0.516201160953502	0.21556	1.144856	-0.57713764892997	0.20089	1.080826	0.0639800227487528	0.15314	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	3.55	2.51	0.29435	1.313000	0.33191	8.060000	0.76395	0.487000	0.22268	0.825000	0.30060	1.000000	0.68203	0.508000	0.29198	0.131:0.0:0.869:0.0	6.724	0.22533	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.83	37	chr19	4352988	.	G	A	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.87;DP=216;ExcessHet=0;FS=1.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.604;SOR=0.684	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1149	5	0	1	0
chr19	4847837	4847837	G	A	exonic	PLIN3	.	nonsynonymous SNV	PLIN3:NM_001164189:exon6:c.C688T:p.R230W,PLIN3:NM_001164194:exon6:c.C652T:p.R218W,PLIN3:NM_005817:exon6:c.C688T:p.R230W	.	433	1088	0	1	0	2	0.000918274	.	.	.	2236266	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0577339097968	7.7e-05	.	1.688e-05	0	0	0	0	1.539e-05	0	6.13e-05	1.29e-05	2	154602	rs373825347	1.3e-05	1.3e-05	5.447e-06	2.063e-05	0.0002	8.32e-06	6.7e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	8.096e-06	0	0.0001	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	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.364926	0.13614	N	0.694331	0.996557	0.22978	N	3.055	0.86842	M	2.83	0.10771	T	-3.5	0.68178	D	0.395	0.43610	-1.0815	0.07060	T	0.053	0.22423	T	10	0.19428468	0.35233	T	0.057734	0.67070	D	0.082	0.23913	.	.	0.263612267334	0.25957	0.3253328121639437	0.32446	0.475756608182	0.46738	0.426760911942	0.28765	T	0.159319	0.50271	T	-0.375879	0.03307	T	-0.518022	0.20495	T	0.721117073079627	0.41755	D	0.940006	0.79487	D	0.18667044	0.40086	0.2656364	0.52399	0.18667044	0.40086	0.2656364	0.52398	-8.753	0.66093	D	.	.	0.172	0.37746	B	.;.;.	.;.;.	4.781931	0.77512	26.7	0.99861736050233729	0.94002	0.53477	0.29381	D	AEFDBHCI	0.337874	0.43553	N	0.130261873675181	0.47878	3.007497	-0.0134462679190595	0.39107	2.313755	0.998824067395607	0.37755	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.41	-1.6	0.07977	0.292000	0.18766	2.652000	0.33822	0.634000	0.51959	0.636000	0.28050	1.000000	0.68203	0.949000	0.49496	0.0855:0.0963:0.3326:0.4857	4.415	0.10881	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1238.83	53	chr19	4847837	.	G	A	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.754;DP=381;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.812;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	5	0	1	0
chr19	4891552	4891552	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon3:c.G481A:p.E161K,ARRDC5:NM_001367189:exon4:c.G547A:p.E183K	.	432	1064	24	2	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00410282417331	0.0033	0.00239617	0.0039	0.0011	0.0032	0	0.0003	0.0056	0.0060	0.0027	0.0036287	561	154602	rs117229323	0.0046	0.0046	0.0046	0.0046	0.0107	0.0045	0.0045	0.0086	0.0078	0.0010	0.0044	0.0089	0	0.0005	0.0107	0.0050	0.0052	0.0027	0.0037	0.0037	0.0037	0.0037	0.0069	0.0035	0.0034	0.0059	0.0055	0.0010	0	0.0069	0.0052	0	0.0003	0.0340	0.0055	0.0047	0.0015	0.296	0.14694	T	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.005155	0.33053	N	0.139503	0.999958	0.19072	N	2.255	0.64187	M	2.12	0.19726	T	-1.55	0.37566	N	0.099	0.08088	-1.0063	0.28065	T	0.019	0.08033	T	10	0.004798323	0.00102	T	0.004103	0.09806	T	0.017	0.02790	.	.	0.0297737177859	0.01360	0.30261166566913883	0.30174	0.141106849071	0.15915	0.377224206924	0.21861	T	0.034748	0.23446	T	-0.5912	0.00165	T	-0.618687	0.11289	T	0.00692169043717743	0.00078	T	0.626737	0.24270	T	0.052711822	0.09870	0.05264129	0.08714	0.052711822	0.09870	0.05264129	0.08714	-4.812	0.34731	T	.	.	0.070	0.03588	B	.	.	1.423129	0.18399	13.72	0.9374996075781642	0.23690	0.02154	0.06332	N	AEFGBI	0.046700	0.07783	N	-1.13271059564567	0.06069	0.2784059	-1.13582331712859	0.07025	0.340216	0.0685876650961028	0.15462	0.594549	0.33734	0	0.486142	0.07564	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.92	0.412	0.15614	-0.170000	0.09886	-0.527000	0.08657	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.483:0.1589:0.3581	4.368	0.10668	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009615	0.010101	0.008152	0.015060	0.000000	0.017241	0.009146	0.011364	0.08333	1112.83	36	chr19	4891552	.	C	T	1112.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.718;DP=255;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.5;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1246	5	0	1	0
chr19	5455948	5455948	C	T	exonic	ZNRF4	.	nonsynonymous SNV	ZNRF4:NM_181710:exon1:c.C457T:p.R153C	.	433	1082	7	0	0	7	0.00322432	.	.	.	2383847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00961003748237	.	.	1.723e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771662701	5.523e-06	9.577e-06	2.749e-06	8.322e-06	0.0002	2.38e-06	1.72e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.499e-06	0	2.32e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.133	0.26409	T	0.209	0.26798	T	0.003	0.11197	B	0.002	0.06944	B	0.985923	0.08063	U	0.992853	1	0.08975	N	0	0.06538	N	3.52	0.04905	T	-1.28	0.32185	N	0.144	0.14480	-0.9214	0.45362	T	0.006	0.02018	T	10	0.047257245	0.04021	T	0.00961	0.25130	T	0.016	0.02506	0.605	0.73706	0.0297737177859	0.01360	0.7708474388891755	0.77033	0.327880304235	0.34911	0.290679395199	0.09021	T	0.001984	0.01394	T	-0.426613	0.01554	T	-0.669048	0.07669	T	0.0885854307122646	0.11048	T	0.485551	0.14815	T	0.048785236	0.08559	0.062438615	0.12215	0.048785236	0.08559	0.062438615	0.12215	-5.631	0.43075	T	.	.	0.136	0.29724	B	.	.	1.357234	0.17655	13.29	0.94592335339102152	0.25145	0.01837	0.05695	N	AEFDBI	0.070172	0.13920	N	-1.53996522664564	0.01594	0.06965621	-1.57984028576803	0.01778	0.08094705	0.0413599687104784	0.14480	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.65	-7.22	0.01335	-0.531000	0.06259	-1.202000	0.06038	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1865:0.2961:0.4193:0.0981	3.817	0.08334	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3686.06	82	chr19	5455948	.	C	T	3686.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.33;DP=528;ExcessHet=0.4139;FS=0.972;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=2.02;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1401:.	4	0	2	0
chr19	5693607	5693607	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon16:c.A1895G:p.H632R,LONP1:NM_004793:exon16:c.A2483G:p.H828R,LONP1:NM_001276479:exon17:c.A2291G:p.H764R	CODAS syndrome, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0129082212686	.	.	8.273e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs759128465	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.07619	T	0.712	0.13713	T	0.001	0.07471	B	0.003	0.08700	B	0.278227	0.14995	N	0.665110	1	0.08975	N	0.26	0.09897	N	1.6	0.28604	T	-0.96	0.25551	N	0.131	0.14905	-1.0093	0.27136	T	0.037	0.15770	T	10	0.059069097	0.07044	T	0.012908	0.31889	T	0.046	0.12618	0.559	0.67821	0.253981072376	0.25009	0.5191698308143036	0.51839	0.399117254086	0.40948	0.324678421021	0.14130	T	0.169207	0.51650	T	-0.271844	0.11552	T	-0.628262	0.10546	T	0.0148508567363024	0.00314	T	0.734227	0.36599	T	0.27707416	0.50766	0.10011906	0.23927	0.27707416	0.50766	0.10011906	0.23926	-5.298	0.39923	T	0.094938388421462	0.06407	0.059	0.09530	B	.;.;.;.;.;.	.;.;.;.;.;.	0.499667	0.08688	5.460	0.81264885097623973	0.13600	0.77519	0.38124	D	AEFDBHCIJ	0.190091	0.31733	N	-0.769273331056462	0.14116	0.7005552	-0.685457524216697	0.17324	0.9206768	0.999999987702434	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.33	1.05	0.19280	1.537000	0.35689	-1.310000	0.05750	0.654000	0.53741	0.310000	0.25414	0.000000	0.08366	0.817000	0.38496	0.0:0.2953:0.0:0.7047	7.072	0.24362	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic 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	.	.	.	.	.	.	.	.	0.1667	1896.06	34	chr19	5693607	.	T	C	1896.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=314;ExcessHet=0.4139;FS=1.887;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=2.07;SOR=0.7	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1056,0,1333	4	0	2	0
chr19	5783675	5783675	T	G	exonic	PRR22	.	nonsynonymous SNV	PRR22:NM_001134316:exon3:c.A572C:p.N191T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00206170625213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170020122	3.484e-06	2.079e-05	1.713e-06	5.315e-06	4.483e-06	8.2e-07	5.5e-07	1.05e-06	7.1e-07	0	0	0	0	0	0	4.483e-06	0	0	1.407e-05	1.371e-05	1.366e-05	1.449e-05	3.095e-05	2.34e-06	8.8e-07	5.13e-06	1.92e-06	0	0	0	0	0	0	0	3.095e-05	0	0	0.596	0.05703	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.24	0.50175	N	0.075	0.04913	-0.9634	0.38527	T	0.019	0.08079	T	9	0.039610833	0.02465	T	0.002062	0.03775	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.0599943241304356	0.05939	0.0460182427998	0.04998	0.466051697731	0.34140	T	0.022376	0.17263	T	-0.365517	0.03828	T	-0.762817	0.03012	T	0.0393637083041077	0.03575	T	0.262274	0.04237	T	0.04746145	0.08114	0.04834794	0.07162	0.04746145	0.08114	0.04834794	0.07161	-1.546	0.01861	T	.	.	0.120	0.24633	B	.	.	0.452260	0.08223	4.962	0.59860503523206099	0.06324	0.08997	0.14839	N	AEFDBCI	0.104676	0.20938	N	-1.62146726620318	0.01161	0.05046319	-1.72549164736227	0.01029	0.04616666	0.97749597063252	0.29827	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.45	-6.9	0.01496	-1.764000	0.01898	-1.336000	0.05684	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3603:0.3677:0.2719	5.885	0.18123	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	190.83	43	chr19	5783675	.	T	G	190.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.77;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.201;SOR=1.112	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,678	5	0	1	0
chr19	6427473	6427473	C	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.G653A:p.R218Q,SLC25A41:NM_001321298:exon6:c.G239A:p.R80Q	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0320289930778	7.7e-05	0.00119808	0.0010	0	0.0024	0	0	0.0008	0.0047	0.0022	0.0005433	84	154602	rs370967882	0.0004	0.0004	0.0003	0.0005	0.0084	0.0004	0.0004	0.0065	0.0058	0.0002	0.0006	0.0027	0.0001	0	0.0084	0.0003	0.0008	0.0010	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	9.621e-05	0	0.0009	0.0020	0	0	0	0.0003	0.0014	0.0017	0.065	0.36310	T	0.01	0.65728	D	0.581	0.38837	P	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.61	0.15665	N	-1.16	0.78082	T	-1.84	0.43149	N	0.121	0.11197	-0.8827	0.49545	T	0.208	0.56771	T	9	0.0052732825	0.00115	T	0.032029	0.53962	D	0.154	0.40340	.	.	0.329282125956	0.32538	0.21025020509890177	0.20941	0.0426198176388	0.04596	0.257188558578	0.04561	T	0.055096	0.29909	T	-0.433726	0.01408	T	-0.446235	0.28112	T	0.0350473004095516	0.02815	T	0.889011	0.61998	D	0.079493165	0.18164	0.074608445	0.16339	0.079493165	0.18163	0.074608445	0.16339	-4.404	0.29612	T	.	.	0.075	0.05317	B	.	.	1.307874	0.17108	12.96	0.99471717513587254	0.66365	0.05453	0.11331	N	AEFBI	0.115421	0.22695	N	-0.659157792231801	0.17193	0.8826803	-0.730294490387425	0.16208	0.8563167	0.0271245656806612	0.13754	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	1.82	0.24209	1.316000	0.33226	-0.740000	0.07623	0.599000	0.40250	0.157000	0.23755	0.000000	0.08366	0.046000	0.14843	0.1761:0.6309:0.0:0.1931	4.945	0.13336	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011156	0.000000	0.016304	0.014706	0.000000	0.017241	0.003106	0.003788	0.08333	874.83	38	chr19	6427473	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.776;SOR=0.714	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr19	6686267	6686267	G	A	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon29:c.C3667T:p.P1223S	C3 deficiency, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1972889	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.019077051668	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771497419	8.893e-06	8.893e-06	8.168e-06	9.626e-06	0.0002	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.097	0.39190	T	0.084	0.24799	B	0.03	0.21741	B	0.003977	0.34270	N	0.309092	0.999998	0.08975	N	1.565	0.39561	L	1.52	0.30669	T	-4.22	0.75854	D	0.108	0.09349	-1.0627	0.11093	T	0.061	0.25635	T	10	0.09711033	0.17466	T	0.019077	0.41344	T	0.022	0.04323	0.358	0.36060	0.546400721484	0.54296	0.2807098819538663	0.27983	0.614059306348	0.55946	0.253475129604	0.04143	T	0.335741	0.70532	T	-0.167748	0.25576	T	-0.478735	0.24581	T	0.16635850071907	0.18329	T	0.616038	0.23564	T	0.27846977	0.50901	0.34977898	0.60598	0.27846977	0.50901	0.34977898	0.60597	-5.197	0.38911	T	0.22458159435292704	0.30331	0.088	0.11510	B	.	.	2.093202	0.26629	17.18	0.97732656172489618	0.35628	0.22811	0.21871	N	AEFBHCI	0.452594	0.50608	N	-0.380279633710221	0.26172	1.426388	-0.32616485511408	0.27255	1.511172	0.328979153946802	0.19465	0.615465	0.37627	0	0.480063	0.06835	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	2.21	0.27042	1.057000	0.30102	3.029000	0.36034	0.676000	0.76740	0.045000	0.21207	0.275000	0.24072	0.759000	0.36109	0.0739:0.1234:0.5733:0.2294	5.310	0.15133	911	0.21964	Alpha-macroglobulin complement component	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	581.83	42	chr19	6686267	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.609;DP=217;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.519;SOR=0.479	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1135	5	0	1	0
chr19	6731038	6731038	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon17:c.C1508T:p.P503L,GPR108:NM_020171:exon17:c.C782T:p.P261L	.	429	1088	5	0	0	5	0.00229253	.	.	.	2363347	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.164429138664	0.0004	0.000199681	0.0004	0.0001	8.658e-05	0.0001	0	0.0007	0.0011	0	0.0003946	61	154602	rs202003872	0.0005	0.0005	0.0005	0.0005	0.0055	0.0005	0.0005	0.0040	0.0035	0.0007	2.236e-05	0.0011	0	3.755e-05	0.0055	0.0005	0.0009	6.956e-05	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	6.541e-05	0.0012	0.0004	0	0.0102	0.0005	0	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	U	0.000000	1	0.81001	D	2.92	0.84325	M	1.69	0.27032	T	-9.12	0.98616	D	0.38	0.42149	-0.8958	0.48408	T	0.153	0.48274	T	10	0.42449296	0.57083	T	0.164429	0.84354	D	0.295	0.61502	.	.	0.467923293426	0.46417	0.7391674632980586	0.73861	0.848240963951	0.68415	0.471112430096	0.34834	T	0.375615	0.76042	T	-0.230642	0.16564	T	-0.194433	0.55173	T	0.832968294620514	0.48762	D	0.978602	0.92442	D	0.59733593	0.72548	0.50368613	0.71311	0.59733593	0.72549	0.50368613	0.71311	-11.269	0.81113	D	.	.	0.379	0.58340	A	.;.;.;.	.;.;.;.	3.471882	0.48438	22.6	0.99647669262327798	0.77068	0.79693	0.39540	D	AEFDBHCI	0.762882	0.70016	D	0.338809909210166	0.58151	3.985813	0.181277636002997	0.48822	3.093024	0.999999904451037	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.91	2.87	0.32523	3.770000	0.55020	1.861000	0.29322	0.526000	0.24426	1.000000	0.71638	0.996000	0.32793	0.049000	0.15107	0.1106:0.0:0.8894:0.0	9.226	0.36571	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	1589.83	83	chr19	6731038	.	G	A	1589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.579;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,117,1755:.	5	0	1	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.001359	0.000000	0.050000	0.017241	0.003049	0.003788	0.08333	733.83	40	chr19	6734221	.	G	A	733.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=275;ExcessHet=0;FS=1.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.31;SOR=0.45	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.002717	0.000000	0.000000	0.017241	0.003067	0.000000	0.08333	481.83	40	chr19	6734281	.	T	C	481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.17;DP=246;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.214;SOR=0.409	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.08333	952.83	36	chr19	6755168	.	C	T	952.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.97;DP=260;ExcessHet=0;FS=2.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.73;SOR=0.442	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr19	6822306	6822306	C	A	exonic	VAV1	.	nonsynonymous SNV	VAV1:NM_001258206:exon5:c.C535A:p.R179S,VAV1:NM_001258207:exon5:c.C535A:p.R179S,VAV1:NM_005428:exon5:c.C535A:p.R179S	.	429	1088	5	0	0	5	0.00229253	.	.	.	1344508	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0528587382978	.	.	5.062e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs745430064	2.999e-05	3.215e-05	1.555e-05	4.472e-05	0.0003	2.246e-05	1.991e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.669e-05	0	0.0003	6.684e-06	6.644e-06	1.306e-05	0	1.488e-05	0	0	.	.	0	0	0	0	0	0	0	1.488e-05	0	0	0.024	0.47745	D	0.011	0.76473	D	0.858	0.47274	P	0.625	0.51564	P	0.002036	0.37411	N	0.179433	0.99141	0.44627	D	1.845	0.48678	L	1.46	0.32238	T	-2.61	0.56144	D	0.572	0.74826	-1.1382	0.01427	T	0.072	0.29323	T	10	0.4956239	0.61249	T	0.052859	0.65237	D	0.106	0.30130	.	.	0.426936546926	0.42313	0.602312451386527	0.60162	1.92046280059	0.92997	0.486159324646	0.36907	T	0.450281	0.79145	T	-0.172169	0.24907	T	-0.225406	0.52216	T	0.867542386054993	0.51755	D	0.917708	0.79334	D	0.64313364	0.74998	0.42691284	0.66452	0.64313364	0.75000	0.42691284	0.66452	-11.344	0.81511	D	.	.	0.771	0.82667	P	.;.;.;.;.	.;.;.;.;.	4.573627	0.72187	25.8	0.99770987802155997	0.85918	0.71393	0.34994	D	AEFDBI	0.242478	0.36392	N	0.11463189025531	0.47145	2.944347	0.177584138555765	0.48621	3.075604	0.453465907711224	0.20561	0.67177	0.52595	0	0.702456	0.74545	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	1.152000	0.31275	4.693000	0.44374	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	12.165	0.53428	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	.	.	.	.	.	.	.	.	0.08333	929.83	35	chr19	6822306	.	C	A	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.33;SOR=0.739	GT:AD:DP:GQ:PL	0/1:31,32:63:99:940,0,879	5	0	1	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	252.36	11	chr19	7019288	.	G	A	252.36	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.366;DP=45;ExcessHet=0.4139;FS=2.246;MLEAC=2;MLEAF=0.167;MQ=43.58;MQRankSum=0.14;QD=15.77;ReadPosRankSum=1.67;SOR=1.714	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,172	4	0	2	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011299	0.000000	0.000000	0.016667	0.000000	0.000000	0.046875	0.000000	0.2	279.46	4	chr19	7032755	.	C	T	279.46	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.66;DP=28;ExcessHet=0.5115;FS=4.26;MLEAC=2;MLEAF=0.2;MQ=31.32;MQRankSum=-0.262;QD=17.47;ReadPosRankSum=0.231;SOR=2.67	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,101	3	0	2	1
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M,INSR:NM_000208:exon17:c.G3034A:p.V1012M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	29746	Monogenic_diabetes|not_specified|not_provided|Rabson-Mendenhall_syndrome|Bailey-Bloch_congenital_myopathy|Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Leprechaunism_syndrome|Type_2_diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	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	0.014602	0.005051	0.008152	0.020468	0.000000	0.017241	0.012195	0.030303	0.08333	1476.83	35	chr19	7125507	.	C	T	1476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.1;DP=338;ExcessHet=0;FS=0.677;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.137;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	5	0	1	0
chr19	7375755	7375755	C	T	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon4:c.C311T:p.P104L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0285960479943	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210741810	3.696e-06	4.104e-06	3.501e-06	3.914e-06	0.0002	8.7e-07	5.8e-07	.	.	0	0	0	0	0	0.0002	1.087e-06	4.558e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.21056	.	.	.	.	.	.	.	0.12135735	0.23004	T	0.028596	0.51249	D	.	.	.	.	0.561408675542	0.55802	.	.	.	.	.	.	.	.	.	.	-0.245794	0.14619	T	-0.590843	0.13593	T	.	.	.	0.758824	0.38273	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24054	B	.	.	2.532318	0.32744	19.13	0.99558820732776454	0.71645	0.01726	0.05462	N	AEFDBI	0.057856	0.10811	N	.	.	.	.	.	.	0.996249163829018	0.34617	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.43	3.34	0.37357	0.549000	0.23037	2.175000	0.31084	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.556000	0.30317	0.0:0.6936:0.3064:0.0	9.033	0.35431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	397.83	34	chr19	7375755	.	C	T	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.906;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-1.885;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	7462277	7462277	G	T	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001130955:exon11:c.G1852T:p.G618W,ARHGEF18:NM_001367824:exon12:c.G1540T:p.G514W,ARHGEF18:NM_015318:exon12:c.G1540T:p.G514W,ARHGEF18:NM_001367823:exon21:c.G2578T:p.G860W	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0486488243101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	0.000040	0.55875	D	0.000000	1	0.81001	D	.	.	.	1.37	0.35219	T	-3.48	0.68412	D	0.769	0.77319	-0.6932	0.60759	T	0.217	0.57928	T	10	0.76555526	0.76675	D	0.048649	0.63465	D	0.386	0.70276	0.366	0.37361	0.303453137403	0.29957	0.27533685120835183	0.27446	1.09681576166	0.77608	0.404245793819	0.25659	T	.	.	.	0.0970391	0.63972	D	-0.0983865	0.63522	T	0.990625739097595	0.80850	D	0.730727	0.34650	T	.	.	.	.	.	.	.	.	-12.37	0.86606	D	.	.	0.253	0.48797	B	.;.	.;.	4.089263	0.60890	24.3	0.99651810565321652	0.77317	0.95672	0.65668	D	AEFDBHCI	0.782180	0.71354	D	0.634312531083474	0.75357	6.29161	0.590509520925853	0.74256	6.106511	0.999999999973064	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.339000	0.65724	7.233000	0.57878	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	16.346	0.82966	906	0.23090	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	784.83	34	chr19	7462277	.	G	T	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.075;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.858;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	7647478	7647478	A	G	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon18:c.A1654G:p.R552G,STXBP2:NM_001272034:exon18:c.A1696G:p.R566G,STXBP2:NM_006949:exon18:c.A1663G:p.R555G	Hemophagocytic lymphohistiocytosis, familial, 5	0	1517	5	0	0	5	0.00164528	.	.	.	257288	Autoinflammatory_syndrome|not_specified|Familial_hemophagocytic_lymphohistiocytosis_5|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0089	0.0121805	0.0043	0.0370	0.0015	0.0110	0	0.0002	0.0016	0.0007	0.0031306	484	154602	rs61736586	0.0011	0.0011	0.0012	0.0009	0.0298	0.0010	0.0010	0.0283	0.0277	0.0298	0.0017	3.849e-05	0.0053	0	0.0040	5.774e-05	0.0024	0.0005	0.0084	0.0085	0.0085	0.0084	0.0280	0.0081	0.0079	0.0267	0.0261	0.0280	0	0.0027	0	0.0087	0	0	0.0002	0.0085	0.0012	0.035	0.43708	D	0.038	0.51421	D	0.001	0.07471	B	0.001	0.04355	B	0.017549	0.27695	N	0.332186	0.999998	0.08975	N	0.865	0.21413	L	-1.1	0.77336	T	-2.56	0.55339	D	0.42	0.46462	-0.9384	0.42869	T	0.052	0.22192	T	10	0.0067243576	0.00153	T	.	.	.	0.268	0.58254	.	.	0.627432410915	0.62439	0.5753117493667321	0.57460	0.310485018044	0.33361	0.289287298918	0.08818	T	0.410902	0.81926	T	-0.35213	0.04594	T	-0.255589	0.49264	T	0.015698409145964	0.00362	T	0.911409	0.68582	D	0.27829647	0.50884	0.25244203	0.50873	0.34024245	0.56299	0.25346318	0.50993	-11.741	0.85079	D	0.2378468910035356	0.32211	0.113	0.37331	B	.;.;.;.	.;.;.;.	2.926547	0.38864	20.8	0.98723276957716022	0.45230	0.15721	0.19049	N	AEFBCI	0.388359	0.46800	N	-0.72329033338605	0.15368	0.773889	-0.696347534144345	0.17051	0.9049362	0.997950632603378	0.36237	0.706298	0.61202	0	0.702456	0.74545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	-3.8	0.04025	1.066000	0.30215	2.826000	0.34993	0.751000	0.87719	0.000000	0.06391	1.000000	0.68203	0.941000	0.48210	0.3151:0.4852:0.0:0.1998	8.444	0.31994	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008569	0.000000	0.016304	0.017544	0.000000	0.000000	0.000000	0.003788	0.08333	624.83	47	chr19	7647478	.	A	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.332;DP=215;ExcessHet=0;FS=6.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.203;SOR=1.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	5	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.08333	124.83	21	chr19	7730841	.	T	A	124.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=120;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=2.09;SOR=0.799	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,520	5	0	1	0
chr19	8073255	8073255	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon62:c.C7745T:p.A2582V,FBN3:NM_032447:exon62:c.C7745T:p.A2582V	.	409	1110	3	0	0	3	0.00134953	.	.	.	742221	not_provided|FBN3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.395	0.0282863173429	0.0015	0.00259585	0.0007	0.0045	0.0024	0	0	7.654e-05	0.0023	6.095e-05	0.0006598	102	154602	rs73923958	0.0002	0.0002	0.0003	0.0002	0.0053	0.0002	0.0002	0.0047	0.0044	0.0053	0.0015	7.653e-05	0	0	0.0021	6.025e-05	0.0006	3.478e-05	0.0016	0.0016	0.0017	0.0014	0.0052	0.0014	0.0014	0.0047	0.0045	0.0052	0	0.0008	0	0	0	0.0034	0.0001	0.0024	0	0.015	0.52492	D	0.008	0.67890	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.23	0.63091	M	1.96	0.22270	T	-2.9	0.60827	D	0.839	0.91505	-0.9052	0.47424	T	0.105	0.38513	T	10	0.021049887	0.00496	T	0.028286	0.50986	D	0.395	0.71004	.	.	0.50970329007	0.50609	0.7358530094103263	0.73530	0.745565018863	0.63500	0.559973716736	0.47264	T	0.537183	0.84088	D	-0.0854725	0.38820	T	0.105677	0.77285	D	0.0333648272507443	0.02531	T	0.952005	0.81587	D	0.7183442	0.79069	0.4929343	0.70670	0.7183442	0.79071	0.4929343	0.70670	-10.351	0.75986	D	.	.	0.223	0.45433	B	.;.;.	.;.;.	3.938647	0.57613	23.9	0.99894118169650981	0.96742	0.96311	0.68520	D	AEFDBHCIJ	0.914576	0.87813	D	0.454486200567587	0.64457	4.700834	0.288777077185396	0.54883	3.652143	1.0	0.98316	0.695654	0.57023	0	0.315538	0.05683	2	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	9.553000	0.97219	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.102000	0.18378	0.0:0.0:1.0:0.0	16.070	0.80721	734	0.53889	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.010101	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1193.83	79	chr19	8073255	.	G	A	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.725;DP=263;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.334;SOR=0.859	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr19	8316595	8316595	T	C	exonic	NDUFA7	.	nonsynonymous SNV	NDUFA7:NM_005001:exon3:c.A152G:p.N51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00247868535765	0.0019	0.00259585	0.0005	0.0058	0.0006	0	0	0	0	0	0.0005304	82	154602	rs146105751	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0005	8.993e-07	0.0004	0	0.0021	0.0021	0.0021	0.0022	0.0074	0.0019	0.0019	0.0067	0.0065	0.0074	0	0.0007	0	0	0	0	0	0.0019	0	0.526	0.07116	T	0.766	0.04539	T	0.0	0.02946	B	0.001	0.04355	B	0.029421	0.25455	N	0.452778	0.844506	0.28584	N	0.69	0.16971	N	0.95	0.43279	T	0.06	0.06253	N	0.114	0.10198	-1.0315	0.19970	T	0.035	0.15160	T	10	0.011108696	0.00244	T	0.002479	0.04925	T	0.022	0.04323	.	.	0.210429274316	0.20668	0.30606855336632527	0.30519	0.0678309548807	0.07588	0.290922373533	0.09057	T	0.017173	0.14057	T	-0.650156	0.00072	T	-0.701834	0.05726	T	0.00121964857158349	0.00012	T	.	.	.	0.25390464	0.48415	0.18317242	0.41290	0.25390464	0.48415	0.18317242	0.41289	-2.608	0.06564	T	.	.	0.054	0.00347	B	.	.	1.006440	0.13851	10.41	0.91091708947981676	0.20344	0.61995	0.31649	D	AEFBCI	0.180818	0.30813	N	-0.652486238298255	0.17388	0.8943316	-0.466451214710669	0.23084	1.257061	6.12161460414896E-4	0.07460	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.74	3.62	0.40616	0.365000	0.20076	.	.	-0.108000	0.15293	0.642000	0.28102	0.979000	0.30280	0.800000	0.37734	0.0:0.1632:0.0:0.8368	8.633	0.33094	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1286.83	125	chr19	8316595	.	T	C	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=296;ExcessHet=0;FS=3.286;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.512;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1154	5	0	1	0
chr19	8324460	8324460	G	A	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.C2371T:p.P791S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0022	0.00259585	0.0011	0.0105	0.0017	0	0	0	0	0	0.0005369	83	154602	rs147910046	0.0002	0.0002	0.0002	0.0002	0.0073	0.0002	0.0002	0.0065	0.0062	0.0073	0.0004	0	0	0	0.0007	9.033e-07	0.0004	0	0.0021	0.0021	0.0021	0.0021	0.0074	0.0019	0.0019	0.0067	0.0065	0.0074	0	0.0007	0	0	0	0	0	0.0019	0	0.21	0.19639	T	0.049	0.48336	D	0.225	0.30426	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.63	0.28002	T	-2.0	0.46146	N	0.198	0.25622	-0.9991	0.30171	T	0.008	0.02720	T	9	0.0029099882	0.00047	T	.	.	.	0.088	0.25558	.	.	0.119812018005	0.11559	0.14510992081021715	0.14433	.	.	0.305510431528	0.11229	T	0.002557	0.01944	T	-0.565264	0.00236	T	-0.579752	0.14567	T	0.0181339758913897	0.00535	T	0.509849	0.16238	T	0.0321509	0.03187	0.057341743	0.10405	0.0321509	0.03187	0.057341743	0.10405	-4.673	0.33076	T	.	.	0.078	0.09336	B	.;.	.;.	1.663329	0.21209	15.10	0.99646969023999077	0.77068	0.56211	0.30059	D	AEFDBHCI	0.111348	0.22049	N	-1.11738843893737	0.06334	0.2912668	-0.958442380249043	0.10727	0.5421668	0.999995029260704	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.691665	0.62940	0	0.711	0.71501	0	.	.	4.72	1.25	0.20475	0.573000	0.23401	.	.	-0.158000	0.11653	0.943000	0.32764	0.861000	0.27489	0.009000	0.08673	0.0955:0.3401:0.5644:0.0	6.859	0.23239	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003027	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.08333	740.83	56	chr19	8324460	.	G	A	740.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.341;DP=225;ExcessHet=0;FS=3.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.03;SOR=0.342	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	5	0	1	0
chr19	8731501	8731501	T	A	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.T473A:p.I158N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00630189723222	0.0003	0.000798722	0.0001	0.0007	0.0002	0	0	0.0001	0.0011	0	0.0001876	29	154602	rs111473170	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0.0008	0.0003	0	0	0	0.0012	0.0001	0.0006	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.012	0.63918	D	0.933	0.52105	P	0.812	0.58704	P	0.271523	0.15118	N	0.642232	0.990461	0.24167	N	2.775	0.80997	M	1.12	0.38718	T	-5.27	0.84175	D	0.464	0.50056	-0.8665	0.50790	T	0.177	0.52240	T	10	0.050704986	0.04842	T	0.006302	0.16551	T	0.082	0.23913	.	.	0.584367751947	0.58110	0.24075175195788995	0.23989	0.220743456636	0.24623	0.422321021557	0.28156	T	0.151684	0.49174	T	-0.327376	0.06311	T	-0.365298	0.37437	T	0.119849500026977	0.14415	T	0.857114	0.54640	D	0.82115704	0.85298	0.7566817	0.85621	0.82115704	0.85299	0.7566817	0.85622	-12.092	0.85296	D	.	.	0.327	0.55032	B	.;.	.;.	3.002545	0.40121	21.1	0.99043854774443296	0.51095	0.05834	0.11776	N	AEFDBHCI	0.119705	0.23352	N	-0.0371313255573145	0.40180	2.381752	-0.260020435216585	0.29427	1.648604	0.0325608787850835	0.14060	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.43	3.41	0.38145	1.599000	0.36361	.	.	0.609000	0.47794	0.003000	0.16062	0.766000	0.26662	0.016000	0.10718	0.0:0.0962:0.0:0.9038	8.393	0.31700	.	.	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	0.004028	0.005051	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	3328.83	224	chr19	8731501	.	T	A	3328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.603;DP=468;ExcessHet=0;FS=4.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.112;SOR=0.938	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	5	0	1	0
chr19	8731681	8731681	A	G	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.A653G:p.Y218C	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00188500634353	0.0003	0.000798722	0.0001	0.0007	0.0002	0	0	0.0001	0.0011	0	0.0001876	29	154602	rs112257905	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0.0008	0.0003	0	0	0	0.0012	0.0001	0.0006	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0003	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000028	0.55875	D	0.000000	0.983339	0.40001	D	4.17	0.97676	H	6.85	0.00481	T	-8.9	0.97928	D	0.62	0.63544	-1.0940	0.04899	T	0.006	0.02055	T	10	0.48262185	0.60521	T	0.001885	0.03299	T	0.256	0.56694	.	.	0.699889232623	0.69729	0.47783008047269243	0.47703	0.256587872952	0.28232	0.424782693386	0.28494	T	0.196643	0.55308	T	-0.171951	0.24940	T	-0.142041	0.59940	T	0.89312607049942	0.54431	D	0.852015	0.53695	D	0.85907984	0.88015	0.636145	0.78756	0.85907984	0.88017	0.636145	0.78757	-7.791	0.59637	D	.	.	0.163	0.35931	B	.;.	.;.	3.420340	0.47492	22.5	0.98924648873852139	0.48620	0.49307	0.28403	N	AEFDBHCI	0.679424	0.64346	D	0.620391990177418	0.74467	6.137438	0.445788208751193	0.64447	4.700084	0.999999659153066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	6.540000	0.73764	.	.	0.691000	0.84096	1.000000	0.71638	0.996000	0.32793	0.006000	0.07323	1.0:0.0:0.0:0.0	12.527	0.55435	.	.	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	0.004028	0.005051	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	2047.83	131	chr19	8731681	.	A	G	2047.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=375;ExcessHet=0;FS=1.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.569;SOR=0.557	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	5	0	1	0
chr19	8731967	8731967	G	T	exonic	OR2Z1	.	nonsynonymous SNV	OR2Z1:NM_001004699:exon1:c.G939T:p.M313I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000670875956839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	0	4.134e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.358	0.17064	T	0.005	0.12996	B	0.003	0.08700	B	0.511200	0.05148	N	1.300290	1	0.08975	N	0.345	0.11182	N	7.21	0.00433	T	-0.48	0.15379	N	0.031	0.00770	-0.9793	0.35162	T	0.001	0.00287	T	10	0.06644678	0.09113	T	6.71E-4	0.00383	T	0.026	0.05648	0.411	0.44723	0.0401082797425	0.02173	0.13421969035939177	0.13345	0.0319776795166	0.03322	0.57760232687	0.49749	T	0.018868	0.15137	T	-0.304949	0.08201	T	-0.675814	0.07241	T	0.0379663333296776	0.03325	T	0.275372	0.04709	T	0.124502234	0.29209	0.106338285	0.25581	0.124502234	0.29209	0.106338285	0.25580	-2.467	0.05560	T	.	.	0.148	0.32709	B	.;.	.;.	0.092611	0.04961	1.526	0.59238220062341407	0.06177	0.04692	0.10377	N	AEFBHCI	0.025041	0.01649	N	-1.12127173724264	0.06266	0.2879699	-1.16385786845493	0.06523	0.3142312	7.81197852362768E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.21	-0.392	0.11822	0.014000	0.13228	.	.	0.594000	0.32500	0.000000	0.06391	0.013000	0.20296	0.003000	0.05239	0.1248:0.4192:0.456:0.0	5.131	0.14241	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1384.83	35	chr19	8731967	.	G	T	1384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=311;ExcessHet=0;FS=2.885;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.782;SOR=0.407	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	5	0	1	0
chr19	8813136	8813136	T	G	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon3:c.A121C:p.T41P,ZNF558:NM_144693:exon8:c.A334C:p.T112P	.	430	1078	13	1	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.00139776	0.0065	0.0004	0.0108	0	0	0.0110	0.0140	0.0021	0.0028137	435	154602	rs61745089	0.0026	0.0026	0.0026	0.0026	0.0103	0.0025	0.0025	0.0082	0.0074	0.0004	0.0026	0.0346	0	0.0001	0.0103	0.0020	0.0053	0.0014	0.0026	0.0026	0.0028	0.0024	0.0053	0.0024	0.0023	0.0044	0.0040	0.0004	0	0.0053	0.0349	0	9.43e-05	0.0170	0.0022	0.0076	0.0012	0.211	0.19569	T	0.261	0.22962	T	0.001	0.07471	B	0.001	0.04355	B	0.548881	0.11457	N	0.712043	1	0.08975	N	0.7	0.18542	N	3.29	0.06445	T	-1.97	0.45587	N	0.095	0.09349	-0.9355	0.43318	T	0.010	0.03537	T	10	0.0049788654	0.00107	T	.	.	.	0.009	0.00846	.	.	0.0551355673512	0.04727	0.4434731397212186	0.44265	0.259224279476	0.28482	0.265417158604	0.05552	T	0.029155	0.20955	T	-0.67211	0.00053	T	-0.737812	0.03984	T	0.0015984344054372	0.00016	T	9.73128E-5	0.00000	T	0.14202425	0.32702	0.08483872	0.19547	0.14202425	0.32701	0.08483872	0.19547	-0.735	0.00748	T	.	.	0.065	0.01810	B	.;.	.;.	0.735706	0.11051	7.704	0.39315862816394936	0.02705	0.04976	0.10745	N	AEFBI	0.080046	0.16178	N	-1.18259583298992	0.05263	0.2395078	-1.19635402717445	0.05970	0.2860118	1.5385123730191E-5	0.02871	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	3.96	1.8	0.24069	0.035000	0.13685	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1117:0.212:0.6764	4.053	0.09285	923	0.18507	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	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	0.013623	0.035354	0.017711	0.008772	0.000000	0.008621	0.006135	0.003788	0.08333	860.83	33	chr19	8813136	.	T	G	860.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=236;ExcessHet=0;FS=3.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=2.26;SOR=0.346	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1341	5	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q	.	421	1086	15	0	0	15	0.00685871	.	.	.	3191483	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.015152	0.014946	0.002924	0.050000	0.008621	0.003049	0.000000	0.08333	445.83	39	chr19	8871627	.	C	T	445.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=160;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.747;SOR=0.936	GT:AD:DP:GQ:PL	0/0:16,0:16:33:0,33,495	5	0	1	0
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	53.0	80	chr19	8888087	.	A	G	53.0	.	AC=2;AF=0.5;AN=4;BaseQRankSum=3.51;DP=398;ExcessHet=0.4139;FS=5.149;MLEAC=2;MLEAF=0.5;MQ=59.61;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.121;SOR=1.592	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:70,0:70:0:.:.:0,0,1474:.	0	0	2	4
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	245.83	483	chr19	8888763	.	G	A	245.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.496;DP=2435;ExcessHet=0;FS=21.698;MLEAC=1;MLEAF=0.083;MQ=56.43;MQRankSum=-9.179;QD=0.51;ReadPosRankSum=1.49;SOR=3.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:487,0:487:99:.:.:0,120,1800:.	5	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	136.52	375	chr19	8888803	.	G	A	136.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.288;DP=2122;ExcessHet=0;FS=1.962;MLEAC=1;MLEAF=0.083;MQ=56.94;MQRankSum=-4.557;QD=0.52;ReadPosRankSum=0.43;SOR=0.449	GT:AD:DP:GQ:PL	0/0:444,0:444:74:0,74,11659	5	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,61:374:99:0|1:8888826_T_*:1767,0,10902:8888826	1	0	5	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	87.83	177	chr19	8899972	.	T	C	87.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.212;DP=357;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.29;MQRankSum=-13.25;QD=0.5;ReadPosRankSum=0.797;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160:.	5	0	1	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	78.83	180	chr19	8899974	.	G	A	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.245;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-13.36;QD=0.44;ReadPosRankSum=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160:.	5	0	1	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	59.83	186	chr19	8899979	.	G	T	59.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.495;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.33;MQRankSum=-13.58;QD=0.32;ReadPosRankSum=1.49;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160:.	5	0	1	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	194.83	201	chr19	8900001	.	C	T	194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.59;DP=382;ExcessHet=0;FS=2.046;MLEAC=1;MLEAF=0.083;MQ=59.15;MQRankSum=-13.69;QD=0.97;ReadPosRankSum=1.82;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160:.	5	0	1	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	210.06	206	chr19	8900017	.	C	G	210.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.128;DP=536;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.13;MQRankSum=-12.32;QD=0.54;ReadPosRankSum=1.98;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1160:.	4	0	2	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.83	96	chr19	8906323	.	G	A	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.804;DP=375;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.45;MQRankSum=-9.193;QD=0.53;ReadPosRankSum=-2.946;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	5	0	1	0
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	42.83	117	chr19	8906325	.	A	C	42.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.852;DP=397;ExcessHet=0;FS=3.943;MLEAC=1;MLEAF=0.083;MQ=58.82;MQRankSum=-9.247;QD=0.49;ReadPosRankSum=-2.384;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	5	0	1	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	70.64	123	chr19	8906329	.	A	G	70.64	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.926;DP=470;ExcessHet=1.383;FS=11.04;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-9.356;QD=0.23;ReadPosRankSum=-2.796;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	3	0	3	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	127.22	142	chr19	8908599	.	T	C	127.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.92;DP=721;ExcessHet=0;FS=46.852;MLEAC=1;MLEAF=0.167;MQ=59.35;MQRankSum=-7.648;QD=1.06;ReadPosRankSum=0.039;SOR=5.721	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:108,0:108:0:.:.:0,0,2571:.	2	0	1	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	118.22	142	chr19	8908602	.	C	T	118.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.79;DP=726;ExcessHet=0;FS=47.294;MLEAC=1;MLEAF=0.167;MQ=59.42;MQRankSum=-7.24;QD=0.96;ReadPosRankSum=0.452;SOR=5.78	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:114,0:114:0:.:.:0,0,2638:.	2	0	1	3
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	121.22	142	chr19	8908604	.	G	T	121.22	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.05;DP=728;ExcessHet=0;FS=47.174;MLEAC=1;MLEAF=0.167;MQ=59.42;MQRankSum=-7.209;QD=0.99;ReadPosRankSum=0.719;SOR=5.761	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:115,0:115:0:.:.:0,0,2887:.	2	0	1	3
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	82.7	142	chr19	8908608	.	T	C	82.7	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.17;DP=723;ExcessHet=0.4139;FS=44.315;MLEAC=1;MLEAF=0.125;MQ=59.41;MQRankSum=-7.528;QD=0.37;ReadPosRankSum=1.08;SOR=5.688	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:116,0:116:0:.:.:0,0,2773:.	2	0	2	2
chr19	8908619	8908619	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.T37592C:p.F12531S	.	425	1082	15	0	0	15	0.00688389	.	.	.	3192351	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.019	0.00202408868933	8.3e-05	.	8.342e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs377069963	3.422e-06	3.42e-06	1.362e-06	5.503e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.658e-05	0	1.352e-05	0.0001	1.315e-05	1.391e-05	2.978e-05	2.25e-06	8.4e-07	4.94e-06	1.85e-06	0	0	0	0	0	0	0	2.978e-05	0	0	0.067	0.35918	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.61	0.01851	T	-0.17	0.09627	N	0.101	0.08366	-0.8956	0.48427	T	0.002	0.00615	T	8	0.04995814	0.04658	T	0.002024	0.03668	T	0.019	0.03383	.	.	0.146414634003	0.14194	0.14281700225897295	0.14204	.	.	0.216673746705	0.01127	T	.	.	.	-0.366936	0.03752	T	-0.764855	0.02941	T	0.0528477553212313	0.05994	T	0.0760924	0.00560	T	.	.	.	.	.	.	.	.	2.702	0.00027	T	.	.	0.052	0.00225	B	.	.	0.670042	0.10384	7.110	0.39831540764915757	0.02773	0.00011	0.00159	N	AEFBI	0.011428	0.00101	N	-1.71979816171027	0.00774	0.03342962	-1.72525038677741	0.01030	0.04621079	2.48205843339707E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.46	0.06089	-0.340000	0.07868	.	.	-0.516000	0.04988	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.6127:0.0:0.3873:0.0	5.188	0.14517	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3333	186.99	173	chr19	8908619	.	A	G	186.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.77;DP=783;ExcessHet=0.4139;FS=45.799;MLEAC=3;MLEAF=0.5;MQ=58.14;MQRankSum=-6.014;QD=0.81;ReadPosRankSum=1.98;SOR=4.614	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:122,0:122:0:.:.:0,0,2797:.	1	0	2	3
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	533.08	146	chr19	8908637	.	C	G	533.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=720;ExcessHet=0.4139;FS=11.146;MLEAC=2;MLEAF=0.167;MQ=58.28;MQRankSum=-8.662;QD=2.05;ReadPosRankSum=-0.389;SOR=1.55	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	4	0	2	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	558.09	146	chr19	8908644	.	C	G	558.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.34;DP=750;ExcessHet=0.4139;FS=1.985;MLEAC=2;MLEAF=0.167;MQ=57.95;MQRankSum=-7.932;QD=2.15;ReadPosRankSum=1.41;SOR=0.936	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	4	0	2	0
chr19	8915540	8915540	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon14:c.C36770G:p.T12257S	.	0	225	1	0	0	1	0.00221729	.	.	.	3208145	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0040	0.00459265	0.0011	0.0123	0.0007	0	0	1.499e-05	0.0022	6.056e-05	0.0010996	170	154602	rs76265586	0.0004	0.0004	0.0005	0.0004	0.0150	0.0004	0.0004	0.0140	0.0135	0.0150	0.0004	0	0	0	0.0030	9.899e-06	0.0009	8.117e-05	0.0036	0.0036	0.0039	0.0033	0.0127	0.0033	0.0033	0.0118	0.0114	0.0127	0	0.0009	0	0	0	0	4.41e-05	0.0014	0.0002	0.387	0.10945	T	0.298	0.20486	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-0.25	0.11008	N	0.156	0.16168	-1.0125	0.26133	T	0.011	0.04134	T	8	0.004139781	0.00082	T	.	.	.	0.019	0.03383	0.589	0.71749	0.0954503805726	0.09146	0.2988940096633552	0.29802	.	.	0.281722426414	0.07734	T	.	.	.	-0.728643	0.00024	T	-0.808391	0.01701	T	0.000717250499075315	0.00006	T	0.0691931	0.00506	T	.	.	.	.	.	.	.	.	-5.735	0.44004	T	.	.	0.146	0.32178	B	.	.	-0.382734	0.02277	0.237	0.42919118697087533	0.03196	0.01368	0.04673	N	AEFBHI	0.026146	0.01912	N	-1.16561596542646	0.05528	0.2522373	-1.30492613252746	0.04366	0.2057816	1.53523536235076E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.39	-2.1	0.06809	-2.225000	0.01295	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.2146:0.3508:0.4346	4.550	0.11505	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006048	0.000000	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	2288.83	148	chr19	8915540	.	G	C	2288.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.018;DP=329;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.554;SOR=0.89	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	8947821	8947821	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C28949T:p.T9650I	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000596836674538	.	0.000399361	0.0002	0	0.0002	0	0	8.994e-05	0	0.0012	0.000194	30	154602	rs545014054	0.0001	0.0001	8.441e-05	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0003	0	0	0	0.0031	2.968e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.715e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0.0034	5.88e-05	0	0.0017	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-4.5	0.78135	D	0.049	0.02088	-1.0045	0.28607	T	0.017	0.06759	T	8	0.018210888	0.00394	T	5.97E-4	0.00274	T	0.041	0.10877	0.24	0.17218	0.0762999501168	0.06990	0.11891972679479476	0.11818	.	.	0.248697668314	0.03632	T	.	.	.	-0.586976	0.00175	T	-0.666367	0.07843	T	0.113970879381483	0.13830	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-6.384	0.49384	T	.	.	0.206	0.43186	B	.	.	0.365561	0.07381	4.004	0.29873056108307561	0.01606	0.03797	0.09124	N	AEFBI	0.022161	0.01074	N	-0.386801544564827	0.25938	1.411843	-0.624394547801181	0.18867	1.009798	1.50795423718389E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.51	0.22094	0.159000	0.16258	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2776:0.7224:0.0	7.227	0.25195	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2634.83	107	chr19	8947821	.	G	A	2634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.905;DP=603;ExcessHet=0;FS=2.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.016;SOR=0.654	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	5	0	1	0
chr19	8948535	8948535	A	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T28235A:p.M9412K	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000923618153121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.877e-06	0.0002	2.36e-06	1.7e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	8.994e-07	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-4.75	0.80256	D	0.376	0.41754	-1.0332	0.19427	T	0.048	0.20315	T	8	0.14468214	0.27453	T	9.24E-4	0.00889	T	0.034	0.08419	0.334	0.32167	0.0920862733494	0.08535	0.1512579716042922	0.15047	.	.	0.292063891888	0.09222	T	.	.	.	-0.189895	0.22273	T	-0.510547	0.21259	T	0.221434105657901	0.21535	T	0.234777	0.03226	T	.	.	.	.	.	.	.	.	-5.843	0.44947	T	.	.	0.164	0.36254	B	.	.	0.199252	0.05841	2.284	0.75160214166267969	0.10968	0.00723	0.03043	N	AEFBI	0.020567	0.00825	N	-0.896912481719584	0.10914	0.5240286	-1.0538581637002	0.08627	0.4250824	9.49003242051039E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.14	-0.307	0.12143	-0.756000	0.04882	.	.	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.4665:0.5335:0.0:0.0	6.277	0.20195	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3110.83	210	chr19	8948535	.	A	T	3110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.03;DP=1054;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.762;SOR=0.653	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	5	0	1	0
chr19	8957433	8957433	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C19337T:p.A6446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000770345813843	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762161303	6.842e-06	6.84e-06	5.446e-06	8.252e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	1.159e-05	1.314e-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	0.011	0.55530	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.46	0.14978	N	0.073	0.04668	-0.9434	0.42073	T	0.006	0.02093	T	8	0.06711054	0.09302	T	7.7E-4	0.00568	T	0.034	0.08419	0.175	0.08135	0.0401082797425	0.02173	0.018707771294956196	0.01824	.	.	0.181930422783	0.00113	T	.	.	.	-0.322275	0.06712	T	-0.700702	0.05788	T	0.0512296093059648	0.05715	T	0.285071	0.05059	T	.	.	.	.	.	.	.	.	-4.91	0.35847	T	.	.	0.160	0.35352	B	.	.	0.087974	0.04924	1.499	0.37335709261515232	0.02454	0.00690	0.02947	N	AEFGBI	0.018197	0.00533	N	-1.12581832254173	0.06187	0.2841396	-1.21800973757029	0.05620	0.2683059	3.96830772303044E-4	0.06820	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.15	-0.302	0.12161	0.349000	0.19801	.	.	0.507000	0.23093	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.19:0.299:0.511:0.0	2.953	0.05509	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1830.83	156	chr19	8957433	.	G	A	1830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.182;DP=545;ExcessHet=0;FS=8.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.143;SOR=1.063	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	5	0	1	0
chr19	8964345	8964345	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C12425T:p.P4142L	.	430	1066	26	0	0	26	0.0120482	.	.	.	3220290	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0019	0.033147	0.0146	0.0015	0.0403	0.1183	0	0.0023	0.0111	0.0062	0.0134992	2087	154602	rs17000819	0.0068	0.0068	0.0069	0.0067	0.1408	0.0067	0.0066	0.1377	0.1364	0.0003	0.0331	0.0028	0.1408	0.0003	0.0073	0.0014	0.0087	0.0069	0.0074	0.0074	0.0071	0.0077	0.1192	0.0070	0.0069	0.1114	0.1083	0.0013	0	0.0146	0.0040	0.1192	0.0004	0	0.0023	0.0132	0.0064	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.32	0.35219	T	-2.41	0.52938	N	0.024	0.00445	-1.0787	0.07602	T	0.001	0.00255	T	8	0.0019057095	0.00026	T	.	.	.	0.049	0.13647	.	.	.	.	0.028977685498381863	0.02846	.	.	0.208943784237	0.00767	T	.	.	.	-0.687407	0.00043	T	-0.630368	0.10387	T	0.0268780047867509	0.01528	T	0.334967	0.07125	T	.	.	.	.	.	.	.	.	-5.323	0.40170	T	.	.	0.120	0.24733	B	.	.	0.636195	0.10045	6.797	0.81400915962711162	0.13667	0.05249	0.11084	N	AEFBI	0.018723	0.00590	N	-0.327044557698409	0.28124	1.548697	-0.566832119775669	0.20361	1.096597	9.65795220478155E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.58	0.446	0.15813	0.052000	0.14046	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3526:0.6474:0.0	5.571	0.16482	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	1	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.008621	0.021341	0.022727	0.1667	3188.06	94	chr19	8964345	.	G	A	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.745;DP=591;ExcessHet=0.4139;FS=0.955;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.77;SOR=0.76	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1334,0,2076	4	0	2	0
chr19	8965330	8965330	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T11440C:p.S3814P	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00120480050086	0.0009	0.000399361	0.0012	0.0001	0.0005	0	0	0.0015	0.0011	0.0021	0.0011061	171	154602	rs145105175	0.0011	0.0011	0.0010	0.0011	0.0057	0.0010	0.0010	0.0042	0.0037	8.979e-05	0.0009	0.0013	2.526e-05	7.499e-05	0.0057	0.0010	0.0012	0.0028	0.0009	0.0009	0.0009	0.0009	0.0023	0.0008	0.0007	0.0013	0.0012	0.0001	0	0.0006	0.0020	0	0.0003	0	0.0015	0.0019	0.0023	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.2	0.30555	N	0.057	0.02861	-0.9537	0.40327	T	0.006	0.02055	T	8	0.007739842	0.00176	T	0.001205	0.01558	T	0.079	0.23065	.	.	0.0716867268079	0.06686	0.07300417843481892	0.07237	.	.	0.292891085148	0.09345	T	.	.	.	-0.593488	0.00160	T	-0.630519	0.10376	T	0.0151501590845091	0.00330	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	-4.511	0.31032	T	.	.	0.140	0.30739	B	.	.	1.173890	0.15638	12.00	0.42603622507811872	0.03152	0.02125	0.06275	N	AEFBI	0.043023	0.06751	N	-1.04693928057025	0.07648	0.3559739	-1.11636432307811	0.07387	0.3591289	1.03372819345948E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.9	0.865	0.18211	0.044000	0.13876	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.463000	0.28185	0.7885:0.0:0.2115:0.0	3.512	0.07271	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	0.006042	0.000000	0.002717	0.000000	0.000000	0.000000	0.021341	0.003788	0.1667	2666.06	89	chr19	8965330	.	A	G	2666.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=451;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.4;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1179,0,1335	4	0	2	0
chr19	8975467	8975467	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G5672A:p.S1891N	.	434	1069	19	0	0	19	0.00880853	.	.	.	3208423	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00179810945064	0.0027	0.00199681	0.0043	0.0013	0.0014	0	0.0095	0.0057	0.0011	0.0025	0.0039909	617	154602	rs138381516	0.0041	0.0041	0.0041	0.0042	0.0044	0.0041	0.0040	0.0043	0.0042	0.0005	0.0016	0.0050	0	0.0101	0.0024	0.0044	0.0037	0.0023	0.0035	0.0035	0.0033	0.0037	0.0044	0.0032	0.0031	0.0040	0.0038	0.0006	0	0.0044	0.0032	0	0.0107	0.0068	0.0044	0.0028	0.0017	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.72	0.20358	N	0.029	0.00666	-0.9098	0.46879	T	0.006	0.02018	T	7	0.0061928034	0.00139	T	0.001798	0.03089	T	0.074	0.21613	.	.	0.0954503805726	0.09146	0.0777041636419737	0.07706	.	.	0.255685806274	0.04390	T	.	.	.	-0.707094	0.00033	T	-0.787102	0.02246	T	0.0210152579785477	0.00802	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	-4.977	0.36589	T	.	.	0.262	0.49673	B	.	.	0.132691	0.05280	1.777	0.45457973557953463	0.03569	0.00122	0.00764	N	AEFBI	0.019231	0.00649	N	-0.755817455938322	0.14476	0.7213874	-0.992618378551014	0.09950	0.4981169	9.78190115938903E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	-0.501000	0.06479	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1455.83	125	chr19	8975467	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.319;DP=596;ExcessHet=0;FS=1.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.83;SOR=0.823	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1466,0,2266	5	0	1	0
chr19	8980661	8980661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G478A:p.E160K	.	425	1081	14	2	0	18	0.00825688	.	.	.	2811540	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00116858358726	0.0002	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0021	0.0005757	89	154602	rs199922056	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0018	0.0017	5.974e-05	0.0002	0.0001	0	3.745e-05	0.0028	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0003	0.0035	0.0003	0.0003	0.0022	0.0018	0	0	0.0002	0	0	9.418e-05	0.0034	0.0005	0.0014	0.0035	0.0	0.91255	D	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.169	0.17966	-0.9043	0.47527	T	0.005	0.01542	T	8	0.00674057	0.00153	T	0.001169	0.01484	T	0.044	0.11924	.	.	0.0954503805726	0.09146	0.030180406335303812	0.02967	.	.	0.244207590818	0.03182	T	.	.	.	-0.605182	0.00135	T	-0.648246	0.09077	T	0.0294080645876312	0.01900	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.167	0.36752	B	.	.	0.808876	0.11799	8.369	0.68935291730639947	0.08813	0.00985	0.03747	N	AEFBI	0.025679	0.01801	N	-0.825848555266625	0.12652	0.6180644	-1.00220392878279	0.09737	0.4861658	9.33931258287073E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.204	0.14476	-0.559000	0.06062	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.3722:0.6278:0.0:0.0	4.622	0.11842	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	43	chr19	8980661	.	C	T	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.131;DP=328;ExcessHet=0;FS=5.305;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.617;SOR=0.962	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr19	8980773	8980773	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G366T:p.M122I	.	427	1092	3	0	0	3	0.00137174	.	.	.	2811541	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.000805683190073	0.0053	0.00139776	0.0048	0.0011	0.0018	0	0.0030	0.0077	0.0033	0.0012	0.0050905	787	154602	rs149255523	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0082	0.0081	0.0012	0.0023	0.0002	2.519e-05	0.0033	0.0012	0.0083	0.0062	0.0007	0.0040	0.0040	0.0045	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0013	0	0	0.0022	0	0.0073	0.0024	0.0008	0.036	0.43393	D	0.254	0.23433	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.46	0.02102	T	-0.46	0.14978	N	0.046	0.01825	-0.9145	0.46285	T	0.003	0.00929	T	8	0.005569577	0.00123	T	8.06E-4	0.00629	T	0.008	0.00669	0.259	0.20159	0.0297737177859	0.01360	0.041948953364198995	0.04139	.	.	0.252386391163	0.04022	T	.	.	.	-0.718011	0.00028	T	-0.78987	0.02168	T	0.000680259322392347	0.00006	T	0.241376	0.03476	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.170	0.37407	B	.	.	-0.105336	0.03609	0.710	0.3625406590914334	0.02322	0.00911	0.03557	N	AEFBI	0.028473	0.02516	N	-1.30581530448491	0.03608	0.1614667	-1.41003759523337	0.03151	0.1464158	1.53248552172924E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.74	0.07622	-1.068000	0.03558	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.4256:0.3244:0.2499	2.442	0.04223	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1756.83	43	chr19	8980773	.	C	A	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.973;DP=311;ExcessHet=0;FS=9.231;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-1.951;SOR=0.249	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr19	9251407	9251407	T	C	exonic	OR7E24	.	nonsynonymous SNV	OR7E24:NM_001079935:exon1:c.T364C:p.F122L	.	.	.	.	.	.	.	.	.	.	.	2209646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0011446209938	0.0002	0.000199681	0.0002	0.0018	0.0002	0	0	1.499e-05	0	0	0.0001488	23	154602	rs200199432	7.046e-05	7.046e-05	7.214e-05	6.875e-05	0.0022	5.913e-05	5.522e-05	0.0018	0.0016	0.0022	0.0001	0	0	0	0.0010	1.799e-06	0.0003	1.159e-05	0.0006	0.0006	0.0006	0.0007	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0003	0	0	0	0	0	0	0	0.138	0.25873	T	0.12	0.35970	T	0.008	0.14655	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.4	0.35362	L	4.95	0.01376	T	-3.99	0.73893	D	0.07	0.04307	-0.9166	0.46011	T	0.004	0.01295	T	9	0.010150582	0.00227	T	0.001145	0.01410	T	0.036	0.09122	0.352	0.35084	0.0806252709748	0.07271	.	.	0.0153011286688	0.01459	0.252220988274	0.04005	T	0.024685	0.18606	T	-0.68081	0.00047	T	-0.757976	0.03185	T	0.00474138673503999	0.00051	T	0.121888	0.00944	T	0.15524699	0.35096	0.121972546	0.29425	0.15524699	0.35096	0.121972546	0.29424	-3.309	0.13853	T	.	.	0.570	0.67652	P	.;.	.;.	1.306023	0.17084	12.95	0.71604078948274785	0.09685	0.05316	0.11166	N	AEDI	0.054379	0.09882	N	-1.06765243736271	0.07246	0.33601	-1.15654002053839	0.06651	0.320868	1.66519160638388E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.39	0.039	0.13522	0.189000	0.16845	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1253:0.2064:0.6683	4.179	0.09828	970	0.06235	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	.	.	.	.	.	.	.	.	0.08333	1548.83	100	chr19	9251407	.	T	C	1548.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=317;ExcessHet=0;FS=1.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.922;SOR=0.619	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	0
chr19	9936325	9936327	CAG	-	exonic	OLFM2	.	nonframeshift deletion	OLFM2:NM_058164:exon1:c.40_42del:p.L14del	.	443	1064	15	0	0	15	0.00699953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0100	.	0.0172	0.0215	0	0	.	0.0182	0.0259	0.0171	0.0013066	202	154602	rs781571404	0.0009	0.0089	0.0008	0.0009	0.0030	0.0008	0.0008	0.0025	0.0023	0.0007	0.0030	0.0016	0.0027	0.0012	0.0008	0.0007	0.0011	0.0018	3.317e-05	0.0002	2.59e-05	4.08e-05	4.44e-05	1.27e-05	8.05e-06	1.179e-05	6.27e-06	0	0	0	0	0	0.0002	0	4.44e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017113	0.007042	0.013699	0.024823	0.000000	0.014286	0.023148	0.012658	0.08333	37.79	19	chr19	9936324	.	ACAG	A	37.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.7;ReadPosRankSum=1.57;SOR=0.693	GT:AD:DP:GQ:PL	0/0:19,0:19:54:0,54,810	5	0	1	0
chr19	10091546	10091546	C	A	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_018381:exon7:c.C559A:p.L187I	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00768630518959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327653152	7.151e-07	2.052e-06	0	1.45e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.085	0.41573	T	.	.	.	.	.	.	0.016754	0.27897	N	0.150439	0.991751	0.81001	D	.	.	.	.	.	.	-1.05	0.27463	N	0.363	0.40465	-0.8645	0.50937	T	0.131	0.44208	T	9	0.23068118	0.40025	T	0.007686	0.20404	T	0.080	0.23350	0.162	0.06618	0.220282294035	0.21616	0.5314722808493412	0.53072	1.76035964692	0.91122	.	.	.	.	.	.	-0.0385912	0.46159	T	-0.29321	0.45439	T	0.720200717449188	0.41709	D	0.749125	0.37025	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.36869	B	.;.	.;.	2.784100	0.36579	20.3	0.99082735723328597	0.52002	0.84984	0.44082	D	AEFBCI	0.712879	0.66586	D	0.195438631183773	0.50979	3.28303	0.23506401937308	0.51805	3.359838	0.999999467926837	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.56	3.56	0.39892	2.460000	0.44689	2.956000	0.35735	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	14.417	0.66730	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1139.83	41	chr19	10091546	.	C	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.646;DP=267;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.267;SOR=0.885	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1150,0,925	5	0	1	0
chr19	10137146	10137146	A	C	exonic	DNMT1	.	nonsynonymous SNV	DNMT1:NM_001318730:exon36:c.T4380G:p.H1460Q,DNMT1:NM_001379:exon36:c.T4380G:p.H1460Q,DNMT1:NM_001130823:exon37:c.T4428G:p.H1476Q,DNMT1:NM_001318731:exon37:c.T4065G:p.H1355Q	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	194159	not_specified|not_provided|Hereditary_sensory_neuropathy-deafness-dementia_syndrome|Inborn_genetic_diseases|DNMT1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013584,MedGen:C3279885,OMIM:614116,Orphanet:456318|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.247	0.0602479522201	0.0025	0.000998403	0.0026	0.0005	0.0032	0	0.0003	0.0040	0.0047	0.0001	0.0021604	334	154602	rs142647321	0.0027	0.0027	0.0028	0.0027	0.0030	0.0026	0.0026	0.0026	0.0026	0.0007	0.0024	0.0211	0	0.0001	0.0030	0.0027	0.0038	0.0002	0.0025	0.0025	0.0025	0.0025	0.0033	0.0023	0.0022	0.0029	0.0028	0.0006	0	0.0030	0.0225	0	0.0002	0.0034	0.0033	0.0028	0.0002	0.051	0.39334	T	0.123	0.35582	T	0.046	0.21875	B	0.056	0.26147	B	0.007878	0.31148	N	0.335009	0.993127	0.23767	N	2.165	0.60562	M	-1.73	0.83327	D	-2.71	0.57762	D	0.154	0.15888	-0.7583	0.57498	T	0.303	0.67399	T	10	0.0046668053	0.00098	T	0.060248	0.67936	D	0.247	0.55478	0.368	0.37687	0.796646849005	0.79475	0.8848082987999397	0.88448	1.05796501594	0.76374	0.465018987656	0.33997	T	0.894285	0.97877	D	-0.462004	0.00955	T	-0.436009	0.29256	T	0.00945126436503104	0.00122	T	0.774523	0.40643	T	0.2536969	0.48393	0.2571321	0.51424	0.3728357	0.58794	0.18849897	0.42143	-5.061	0.37495	T	.	.	0.155	0.34992	B	.;.	.;.	-0.791036	0.01125	0.052	0.934115190988972	0.23174	0.18626	0.20337	N	AEFDBCI	0.183977	0.31130	N	-1.21957005796701	0.04717	0.2134668	-1.37202871752264	0.03553	0.1659638	0.998250273507267	0.36648	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	-8.83	0.00696	-1.012000	0.03759	-9.728000	0.00784	-1.292000	0.01254	0.007000	0.17678	0.000000	0.08366	0.526000	0.29613	0.5676:0.1983:0.2341:0.0	8.154	0.30317	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003543	0.000000	0.005450	0.000000	0.000000	0.008621	0.006173	0.000000	0.08333	1870.83	41	chr19	10137146	.	A	C	1870.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=315;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.005;SOR=0.58	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1390	5	0	1	0
chr19	10323150	10323150	T	A	exonic	RAVER1	.	nonsynonymous SNV	RAVER1:NM_001366174:exon5:c.A1073T:p.K358M,RAVER1:NM_133452:exon5:c.A1073T:p.K358M	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0585700262778	.	0.000199681	0.0001	0	0	0	0	7.657e-05	0	0.0005	7.12e-05	11	154602	rs561793507	0.0001	0.0001	0.0001	0.0001	0.0004	9.52e-05	8.996e-05	0.0003	0.0003	3.024e-05	0.0002	0	0	1.909e-05	0.0002	9.424e-05	0.0001	0.0004	0.0001	0.0001	0.0002	8.063e-05	0.0006	7.576e-05	6.281e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0.0006	0.002	0.72154	D	0.085	0.41074	T	0.998	0.73220	D	0.936	0.67150	D	0.000169	0.48594	D	0.129534	0.999931	0.51612	D	2.35	0.67516	M	2.56	0.13673	T	-2.58	0.55662	D	0.648	0.69213	-1.1532	0.00933	T	0.063	0.26029	T	10	0.2588604	0.43317	T	0.05857	0.67365	D	0.237	0.54074	0.308	0.27967	0.303871581278	0.30001	0.716485646877681	0.71591	0.59830580156	0.55004	0.620693564415	0.55827	T	0.067965	0.84895	T	-0.231066	0.16508	T	-0.206654	0.54014	T	0.317719012498856	0.25729	T	0.888511	0.61827	D	0.34763387	0.56882	0.22424598	0.47330	0.34763387	0.56882	0.22424598	0.47329	-3.457	0.15835	T	.	.	0.585	0.71925	P	.;.;.;.	.;.;.;.	4.266931	0.64895	24.8	0.99537014583397143	0.70274	0.98507	0.83514	D	AEFDBCI	0.791214	0.71988	D	0.462825968247866	0.64936	4.759553	0.437624650443546	0.63927	4.636452	0.999810418532021	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	4.103000	0.57517	7.839000	0.70444	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:0.0:1.0	12.620	0.55958	721	0.55360	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	590.83	33	chr19	10323150	.	T	A	590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.942;DP=201;ExcessHet=0;FS=6.635;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.706;SOR=0.178	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	5	0	1	0
chr19	10338823	10338823	A	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.T202A:p.S68T,ICAM3:NM_002162:exon2:c.T202A:p.S68T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0111873395115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.56	0.09113	T	0.644	0.40509	P	0.484	0.47189	P	0.845324	0.09003	N	0.922101	1	0.08975	N	1.75	0.45442	L	2.42	0.15376	T	-1.35	0.33598	N	0.106	0.09066	-0.9869	0.33371	T	0.047	0.20195	T	10	0.13681394	0.26029	T	0.011187	0.28559	T	0.046	0.12618	0.398	0.42590	0.176091768786	0.17195	0.43619765433563257	0.43536	0.830373386728	0.67598	0.27871337533	0.07313	T	0.043011	0.26367	T	-0.368256	0.03683	T	-0.76675	0.02877	T	0.174607753753662	0.18888	T	0.530647	0.17608	T	0.4152121	0.61771	0.11714897	0.28280	0.4152121	0.61772	0.11714897	0.28280	-6.386	0.49400	T	.	.	0.112	0.26607	B	.;.	.;.	0.601850	0.09701	6.473	0.92899100959644543	0.22454	0.04405	0.09992	N	AEFBCI	0.052770	0.09450	N	-0.628759364781396	0.18083	0.9360525	-0.7858936548561	0.14840	0.7775478	0.999667674259279	0.41534	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-1.14	0.09241	-0.020000	0.12466	0.153000	0.15315	0.669000	0.69127	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.4881:0.3446:0.1673:0.0	6.043	0.18968	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, 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	.	.	.	.	.	.	.	.	0.1667	2609.06	37	chr19	10338823	.	A	T	2609.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.969;DP=451;ExcessHet=0.4139;FS=0.468;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.656;SOR=0.727	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1085,0,1520	4	0	2	0
chr19	10546953	10546953	C	T	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon4:c.C419T:p.A140V,ATG4D:NM_032885:exon4:c.C608T:p.A203V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0116354357597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	2.052e-06	1.364e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.174	0.30045	T	0.04	0.21238	B	0.062	0.26930	B	0.379958	0.04413	N	1.469850	1	0.25380	N	2.565	0.75005	M	.	.	.	-1.0	0.26422	N	0.219	0.24510	-0.9936	0.31670	T	0.108	0.39075	T	9	0.07417953	0.11306	T	0.011635	0.29446	T	0.013	0.01715	0.34	0.33141	0.218112801441	0.21410	0.14859234000529856	0.14781	0.396786836768	0.40786	0.374933153391	0.21536	T	0.024527	0.18515	T	-0.143265	0.29370	T	-0.443567	0.28410	T	0.118229561405242	0.14256	T	0.759724	0.38711	T	0.03291175	0.03406	0.056351785	0.10053	0.03291175	0.03406	0.056351785	0.10052	-4.624	0.32472	T	.	.	0.072	0.05360	B	.;.	.;.	1.315460	0.17191	13.01	0.99564953133491019	0.72014	0.23238	0.22011	N	AEFDBI	0.100694	0.20241	N	-0.5946127001015	0.19107	0.9974452	-0.598634890238204	0.19528	1.048161	0.998127177076278	0.36460	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	3.14	0.35196	0.487000	0.22064	0.213000	0.15984	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.1527:0.766:0.0:0.0814	8.734	0.33679	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	205.83	33	chr19	10546953	.	C	T	205.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.823;DP=228;ExcessHet=0;FS=2.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=1.07;SOR=1.151	GT:AD:DP:GQ:PL	0/1:41,11:54:99:216,0,1283	5	0	1	0
chr19	11350957	11350957	C	G	exonic	CCDC159	.	nonsynonymous SNV	CCDC159:NM_001080503:exon5:c.C376G:p.R126G	.	393	1126	3	0	0	3	0.00133038	.	.	.	2213536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0378112998232	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs540037522	5.707e-05	5.746e-05	6.197e-05	5.204e-05	0.0009	4.668e-05	4.325e-05	0.0003	0.0002	0	8.333e-05	0	5.56e-05	0	0.0009	5.643e-05	0.0001	3.781e-05	5.255e-05	5.25e-05	2.571e-05	8.061e-05	0.0002	2.557e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0	0	0.0002	0	0.0034	8.821e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.65	0.52642	T	-2.26	0.50502	N	0.311	0.35088	-0.8897	0.48960	T	0.208	0.56785	T	9	0.12535357	0.23821	T	0.037811	0.57842	D	0.175	0.44197	.	.	0.40318662893	0.39936	0.1412183228681275	0.14044	0.481733051228	0.47150	0.354570448399	0.18592	T	.	.	.	-0.210082	0.19368	T	-0.334039	0.41019	T	0.111858493097889	0.13615	T	0.751225	0.37284	T	0.2457368	0.47535	0.2518081	0.50798	0.2457368	0.47534	0.2518081	0.50797	-4.55	0.31538	T	.	.	0.225	0.45702	B	.;.;.;.;.	.;.;.;.;.	2.438928	0.31384	18.73	0.98968582642486547	0.49481	0.29526	0.23845	N	AEFBI	0.335465	0.43390	N	-0.193337827270217	0.33412	1.895219	-0.277721751257906	0.28834	1.610748	0.999865595503967	0.44398	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.87	4.87	0.62877	2.855000	0.48032	.	.	0.544000	0.25403	0.094000	0.22667	0.004000	0.18990	0.115000	0.18958	0.0:1.0:0.0:0.0	13.574	0.61328	825	0.40060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004128	0.000000	0.008333	0.008982	0.000000	0.000000	0.000000	0.000000	0.08333	196.84	34	chr19	11350957	.	C	G	196.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.963;DP=131;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,933	5	0	1	0
chr19	11555208	11555208	G	T	exonic	ELOF1	.	nonsynonymous SNV	ELOF1:NM_001363673:exon2:c.C11A:p.S4Y,ELOF1:NM_001363674:exon2:c.C11A:p.S4Y,ELOF1:NM_001363675:exon3:c.C11A:p.S4Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00253127043872	.	.	0.0007	0	0	0	.	0	0	0.0010	1.29e-05	2	154602	rs770322535	1.534e-05	1.272e-05	4.055e-05	0	5.685e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.685e-05	7.235e-06	7.01e-06	0	1.523e-05	1.508e-05	0	0	.	.	0	0	0	0	0	0	0	1.508e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.030811071	0.01211	T	0.002531	0.05065	T	.	.	.	.	0.173771789658	0.16945	0.18670805707146337	0.18588	.	.	.	.	.	.	.	.	-0.708942	0.00032	T	-0.96598	0.00216	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42791	B	.;.	.;.	0.472324	0.08418	5.175	0.48925679490682189	0.04123	0.00504	0.02370	N	AEFBI	0.060433	0.11484	N	.	.	.	.	.	.	0.999377909230854	0.39355	0.489673	0.17934	0	0.71359	0.82159	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	0.131	0.131	0.14055	0.310000	0.19112	.	.	0.324000	0.19419	0.023000	0.19925	0.012000	0.20211	0.002000	0.04165	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	417.83	36	chr19	11555208	.	G	T	417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.231;DP=197;ExcessHet=0;FS=2.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-1.586;SOR=0.288	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,953	5	0	1	0
chr19	11830350	11830350	C	-	exonic	ZNF440	.	frameshift deletion	ZNF440:NM_152357:exon2:c.71delC:p.Q25Rfs*8	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7455.03	36	chr19	11830349	.	TC	T	7455.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=554;ExcessHet=0.4139;FS=1.182;MLEAC=2;MLEAF=0.167;MQ=59.29;MQRankSum=-3.49;QD=19.12;ReadPosRankSum=-0.292;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,98:192:99:0|1:11830349_TC_T:3812,0,3626:11830349	4	0	2	0
chr19	11830353	11830353	A	G	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon2:c.A74G:p.Q25R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.000466004755903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	8.961e-05	6.4e-07	4.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.988644	0.24387	N	3.585	0.93597	H	3.08	0.08460	T	-3.33	0.68999	D	0.472	0.50778	-1.0184	0.24236	T	0.113	0.40238	T	9	0.95037866	0.94373	D	4.66E-4	0.00116	T	0.176	0.44373	0.905	0.97985	0.54351673446	0.54005	0.30461171563045186	0.30374	0.289669501288	0.31379	0.304031908512	0.11005	T	0.087773	0.38014	T	-0.0228682	0.48445	T	-0.270625	0.47756	T	0.972949624061584	0.69898	D	0.648035	0.25918	T	0.56370175	0.70714	0.60875195	0.77247	0.56370175	0.70715	0.60875195	0.77247	-10.175	0.74953	D	.	.	0.614	0.75140	P	.;.;.	.;.;.	2.324712	0.29777	18.23	0.98371996315321097	0.40760	0.71566	0.35069	D	AEFBI	0.056496	0.10450	N	0.204371605825787	0.51409	3.322524	-0.125997059650085	0.34346	1.97457	1.31283105505015E-4	0.05486	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	1.74	1.74	0.23636	1.998000	0.40415	.	.	0.478000	0.22058	0.997000	0.40164	0.073000	0.22253	0.052000	0.15357	1.0:0.0:0.0:0.0	6.758	0.22711	934	0.15400	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	7511.06	36	chr19	11830353	.	A	G	7511.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.426;DP=545;ExcessHet=0.4139;FS=0.757;MLEAC=2;MLEAF=0.167;MQ=59.27;MQRankSum=-3.471;QD=19.11;ReadPosRankSum=-0.229;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,99:193:99:0|1:11830349_TC_T:3838,0,3623:11830349	4	0	2	0
chr19	11867704	11867704	-	T	exonic	ZNF439	.	frameshift insertion	ZNF439:NM_001348724:exon3:c.227_228insT:p.P77Tfs*3,ZNF439:NM_001348725:exon3:c.227_228insT:p.P77Tfs*3,ZNF439:NM_152262:exon3:c.635_636insT:p.P213Tfs*3,ZNF439:NM_001348718:exon4:c.659_660insT:p.P221Tfs*3,ZNF439:NM_001348719:exon4:c.650_651insT:p.P218Tfs*3,ZNF439:NM_001348721:exon4:c.596_597insT:p.P200Tfs*3,ZNF439:NM_001348722:exon4:c.494_495insT:p.P166Tfs*3,ZNF439:NM_001348720:exon5:c.596_597insT:p.P200Tfs*3,ZNF439:NM_001348723:exon5:c.494_495insT:p.P166Tfs*3	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	7.415e-05	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs748808041	6.909e-05	6.909e-05	6.398e-05	7.425e-05	0.0003	5.78e-05	5.391e-05	6.147e-05	5.653e-05	2.987e-05	0	0	0	0	0.0003	7.464e-05	0.0002	3.478e-05	7.226e-05	7.223e-05	6.422e-05	8.068e-05	0.0002	3.97e-05	3.127e-05	3.761e-05	2.574e-05	4.823e-05	0	0.0001	0	0	0	0	8.818e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2830.79	34	chr19	11867704	.	G	GT	2830.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=344;ExcessHet=0;FS=9.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-0.429;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1285:.	5	0	1	0
chr19	12112308	12112308	G	A	exonic	ZNF788P	.	nonsynonymous SNV	ZNF788P:NM_001348164:exon2:c.G761A:p.C254Y,ZNF788P:NM_001348165:exon3:c.G761A:p.C254Y,ZNF788P:NM_001348163:exon4:c.G761A:p.C254Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.00201343541003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.684e-06	6.361e-06	0	1.702e-05	0.0004	2.58e-06	7.2e-07	5.53e-06	2.07e-06	0	0	0	0	0	0.0004	0	0	3.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1552.83	38	chr19	12112308	.	G	A	1552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.602;DP=303;ExcessHet=0;FS=3.477;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.041;SOR=0.947	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr19	12113150	12113150	C	T	exonic	ZNF788P	.	nonsynonymous SNV	ZNF788P:NM_001348164:exon2:c.C1603T:p.R535C,ZNF788P:NM_001348165:exon3:c.C1603T:p.R535C,ZNF788P:NM_001348163:exon4:c.C1603T:p.R535C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00369274615851	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs769057711	3.576e-05	2.852e-05	3.776e-05	3.425e-05	0.0007	1.917e-05	1.501e-05	0.0004	0.0002	0	3.653e-05	0	0.0007	0	0	6.241e-06	0	3.331e-05	7.232e-05	7.225e-05	0.0001	4.038e-05	0.0006	3.974e-05	3.129e-05	0.0002	8.359e-05	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1252.83	38	chr19	12113150	.	C	T	1252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.907;SOR=0.665	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr19	12350857	12350857	C	G	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G521C:p.C174S,ZNF442:NM_030824:exon6:c.G728C:p.C243S	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000822732096047	.	.	7.414e-05	0	0	0	0	4.495e-05	0.0011	0.0003	6.47e-05	10	154602	rs757755988	5.951e-05	5.951e-05	5.037e-05	6.876e-05	0.0019	4.883e-05	4.561e-05	0.0011	0.0008	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.407e-05	9.935e-05	0.0002	3.945e-05	3.941e-05	3.857e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0.0032	1.47e-05	0	0.0004	0.367	0.11659	T	0.108	0.37589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	2.57	0.13552	T	3.57	0.00095	N	0.024	0.03841	-0.9304	0.44080	T	0.007	0.02518	T	9	0.014636844	0.00308	T	8.23E-4	0.00670	T	0.058	0.16647	0.699	0.83592	0.0762999501168	0.06990	0.0056496908278823674	0.00534	0.0714209987842	0.07995	0.238281339407	0.02638	T	0.003459	0.02869	T	-0.629171	0.00097	T	-0.845345	0.01021	T	0.0442284124638147	0.04463	T	0.0357298	0.00319	T	0.034992523	0.04035	0.08343174	0.19118	0.034992523	0.04034	0.08343174	0.19118	-0.129	0.00422	T	.	.	0.092	0.15070	B	.;.;.	.;.;.	-0.558204	0.01690	0.122	0.42410813545902049	0.03124	0.00011	0.00159	N	AEFDBCI	0.078044	0.15737	N	-2.4540855109982	0.00020	0.0008801544	-2.45067687297981	0.00030	0.001326573	0.105874724600331	0.16514	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.727631	0.95156	0	.	.	0.832	-1.66	0.07824	0.139000	0.15858	.	.	-1.992000	0.00454	0.004000	0.16614	0.000000	0.08366	0.671000	0.33280	0.3218:0.3586:0.3196:0.0	4.805	0.12684	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	3079.83	35	chr19	12350857	.	C	G	3079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.398;DP=368;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.746;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	5	0	1	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	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	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.08333	973.83	55	chr19	12464013	.	C	T	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.82;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.8;MQRankSum=-0.974;QD=12.81;ReadPosRankSum=0.114;SOR=0.588	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	5	0	1	0
chr19	12672869	12672869	C	T	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon6:c.C529T:p.R177C,WDR83:NM_001099737:exon8:c.C529T:p.R177C	.	424	1096	2	0	0	2	0.000911577	.	.	.	2344723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.737	0.123733500363	7.7e-05	.	0.0003	0.0002	0	0	0	0.0004	0	0.0002	7.76e-05	12	154602	rs377382977	6.53e-05	6.704e-05	5.236e-05	7.844e-05	0.0012	5.444e-05	5.053e-05	0.0006	0.0004	3.023e-05	0	0	7.737e-05	3.849e-05	0.0012	4.541e-05	0.0001	0.0003	3.943e-05	3.94e-05	1.285e-05	6.725e-05	0.0004	1.715e-05	1.129e-05	6.808e-05	2.85e-05	2.412e-05	0	0	0	0.0004	0	0	4.411e-05	0	0	0.11	0.29158	T	0.197	0.27855	T	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-1.45	0.80899	T	-3.97	0.73684	D	0.582	0.60325	0.323	0.87916	D	0.624	0.86779	D	10	0.57687473	0.65630	D	0.123734	0.80495	D	0.737	0.90852	.	.	0.659296572662	0.65644	0.621652313163349	0.62098	1.06813716266	0.76703	0.704967498779	0.67863	T	0.647673	0.89270	D	0.0744647	0.61385	D	0.15933	0.80765	D	0.766499936580658	0.44231	D	0.943706	0.78720	D	0.35146612	0.57180	0.1754145	0.40006	0.35146612	0.57181	0.1754145	0.40005	-10.265	0.75483	D	.	.	0.278	0.51156	B	.	.	6.028302	0.94381	34	0.99924681726285314	0.98980	0.94918	0.62783	D	AEFDBHCI	0.731823	0.67878	D	0.650909693011772	0.76429	6.484634	0.62285461916652	0.76605	6.521586	0.999999999975687	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.23	5.23	0.72570	5.456000	0.66404	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	17.565	0.87815	735	0.53711	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001017	0.005263	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	346.83	33	chr19	12672869	.	C	T	346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=219;ExcessHet=0;FS=4.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-0.352;SOR=0.245	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr19	12774874	12774874	-	G	exonic	HOOK2	.	frameshift insertion	HOOK2:NM_001100176:exon2:c.68dupC:p.P24Sfs*137,HOOK2:NM_013312:exon2:c.68dupC:p.P24Sfs*137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.778e-06	0	0	0	0	1.578e-05	0	0	3.84e-05	1	26028	rs747235762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	781.79	60	chr19	12774874	.	A	AG	781.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.929;DP=235;ExcessHet=0;FS=5.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.11;SOR=1.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	5	0	1	0
chr19	12825879	12825879	C	T	exonic	RTBDN	.	nonsynonymous SNV	RTBDN:NM_001080997:exon6:c.G517A:p.V173M,RTBDN:NM_001270441:exon6:c.G517A:p.V173M,RTBDN:NM_001270442:exon6:c.G535A:p.V179M,RTBDN:NM_001270443:exon6:c.G517A:p.V173M,RTBDN:NM_001270444:exon6:c.G517A:p.V173M,RTBDN:NM_001270445:exon6:c.G499A:p.V167M,RTBDN:NM_031429:exon7:c.G613A:p.V205M	.	423	1064	35	0	0	35	0.0161812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	0.0062	0.00379393	0.0059	0.0014	0.0060	0.0001	0.0031	0.0086	0.0098	0.0019	0.0056079	867	154602	rs148952767	0.0055	0.0055	0.0054	0.0055	0.0194	0.0054	0.0053	0.0165	0.0154	0.0011	0.0065	0.0414	0	0.0032	0.0194	0.0051	0.0080	0.0018	0.0052	0.0052	0.0055	0.0050	0.0081	0.0049	0.0048	0.0069	0.0065	0.0014	0.0033	0.0081	0.0372	0.0002	0.0014	0.0204	0.0064	0.0080	0.0021	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.326316	0.14188	N	0.581337	1	0.18612	N	2.3	0.65703	M	-1.23	0.78860	T	-2.23	0.50012	N	0.142	0.19728	-0.5274	0.67639	T	0.449	0.78378	T	10	0.008632958	0.00196	T	.	.	.	0.333	0.65522	.	.	0.679993856582	0.67727	0.6243524136616043	0.62368	0.959251436941	0.72940	0.519055008888	0.41493	T	0.110779	0.45160	T	-0.395984	0.02460	T	-0.338552	0.40509	T	0.018487128007871	0.00564	T	0.833717	0.50261	T	0.13471617	0.31290	0.15347806	0.36063	0.13471617	0.31290	0.15347806	0.36062	-5.047	0.37346	T	.	.	0.269	0.55285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.305741	0.29507	18.15	0.99645482826696152	0.76943	0.05403	0.11271	N	ALL	0.110435	0.21899	N	-0.147440916189132	0.35344	2.028895	-0.396753268390047	0.25093	1.377961	0.999999999977259	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.52208	0.10781	0	0.636	0.56748	0	.	.	4.36	1.89	0.24700	0.114000	0.15353	.	.	0.549000	0.26987	0.043000	0.21118	0.008000	0.19753	0.176000	0.21171	0.0:0.7037:0.0:0.2963	5.851	0.17945	495	0.76383	Folate receptor-like;.;.;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021169	0.040404	0.017663	0.005848	0.050000	0.017241	0.030675	0.011364	0.08333	748.83	35	chr19	12825879	.	C	T	748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.76;SOR=0.627	GT:AD:DP:GQ:PL	0/1:30,33:63:99:759,0,685	5	0	1	0
chr19	13090304	13090304	G	A	exonic	NFIX	.	nonsynonymous SNV	NFIX:NM_001365984:exon9:c.G1405A:p.A469T,NFIX:NM_001271043:exon10:c.G1432A:p.A478T,NFIX:NM_001365902:exon10:c.G1408A:p.A470T,NFIX:NM_001378404:exon10:c.G1384A:p.A462T,NFIX:NM_001378405:exon10:c.G1456A:p.A486T	Marshall-Smith syndrome, Autosomal dominant;Sotos syndrome 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	656511	not_provided|Marshall-Smith_syndrome|Malan_overgrowth_syndrome	MedGen:C3661900|MONDO:MONDO:0011244,MedGen:C0265211,OMIM:602535,Orphanet:561|MONDO:MONDO:0013885,MedGen:C3553660,OMIM:614753,Orphanet:420179	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0132192271665	8.1e-05	.	2.492e-05	0	8.661e-05	0.0001	0	0	0	6.068e-05	1.94e-05	3	154602	rs372257657	1.505e-05	1.573e-05	1.906e-05	1.1e-05	0.0002	9.85e-06	8.42e-06	0.0001	8.675e-05	0.0002	6.709e-05	0.0001	0	0	0	3.598e-06	3.313e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0003	6.511e-05	5.322e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	0.039612	0.24151	N	0.414562	1	0.81001	D	0.175	0.09039	N	0.84	0.47477	T	.	.	.	0.084	0.07398	-1.0329	0.19522	T	0.046	0.19720	T	9	0.06777325	0.09490	T	0.013219	0.32452	T	.	.	.	.	0.712203551161	0.70968	.	.	.	.	0.506899118423	0.39788	T	0.06339	0.32163	T	-0.176854	0.24204	T	-0.255146	0.49307	T	0.0894372835755348	0.11150	T	0.838616	0.51177	T	0.03958305	0.05492	0.043989845	0.05599	0.03958305	0.05492	0.043989845	0.05599	-3.005	0.10235	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	2.732422	0.35768	19.98	0.99078303118175926	0.51906	0.60354	0.31171	D	AEFGBI	0.066383	0.12997	N	-0.356627542538136	0.27029	1.479791	-0.275554741383072	0.28906	1.615328	0.99999376422692	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.37	2.08	0.26079	0.092000	0.14905	0.104000	0.14688	0.674000	0.70861	0.972000	0.34453	0.644000	0.25929	1.000000	0.97212	0.1285:0.0:0.4218:0.4498	4.578	0.11638	798	0.45050	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	933.83	37	chr19	13090304	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.677;DP=261;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.756;SOR=0.588	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1400	5	0	1	0
chr19	13112787	13112787	G	A	exonic	TRMT1	.	nonsynonymous SNV	TRMT1:NM_001142554:exon6:c.C788T:p.A263V,TRMT1:NM_001351762:exon6:c.C5T:p.A2V,TRMT1:NM_017722:exon6:c.C788T:p.A263V,TRMT1:NM_001136035:exon7:c.C788T:p.A263V,TRMT1:NM_001351760:exon7:c.C788T:p.A263V,TRMT1:NM_001351761:exon7:c.C680T:p.A227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.175363457585	.	.	1.656e-05	0	0	0	0	1.51e-05	0	6.058e-05	1.29e-05	2	154602	rs772113572	8.894e-06	8.893e-06	4.084e-06	1.375e-05	9.276e-05	4.96e-06	3.82e-06	4.579e-05	3.273e-05	2.987e-05	0	0	0	0	0	3.597e-06	0	9.276e-05	1.314e-05	1.313e-05	0	2.691e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.002	0.72154	D	0.004	0.74150	D	0.999	0.90584	D	0.977	0.73820	D	0.000003	0.62929	D	0.059245	1	0.81001	D	3.945	0.96414	H	.	.	.	-3.77	0.71397	D	0.773	0.77319	0.256	0.86838	D	0.545	0.83289	D	9	0.89600074	0.88954	D	0.175363	0.85147	D	0.389	0.70521	0.828	0.93851	0.778858723293	0.77681	0.8105794898123677	0.81012	1.64088380601	0.89372	0.802544474602	0.82351	T	0.541108	0.84290	D	0.242059	0.77855	D	0.291452	0.87760	D	0.988206684589386	0.78569	D	0.974702	0.97673	D	0.54511464	0.69683	0.5487754	0.73913	0.54511464	0.69684	0.5487754	0.73913	-14.176	0.93614	D	0.8154807712542186	0.88957	0.523	0.78671	A	.;.;.;.;.	.;.;.;.;.	5.239223	0.87955	29.4	0.99939355803155594	0.99734	0.90196	0.51183	D	AEFBCI	0.699695	0.65696	D	0.823685740924278	0.87562	9.261651	0.747967428873308	0.86004	8.752989	0.999999999999888	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	4.045000	0.57081	11.419000	0.92710	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	15.582	0.76198	797	0.45241	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	701.83	46	chr19	13112787	.	G	A	701.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=220;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=1.4;SOR=1.037	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1105	5	0	1	0
chr19	13209372	13209372	G	C	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon45:c.C6469G:p.R2157G,CACNA1A:NM_001127222:exon45:c.C6466G:p.R2156G	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	4	1517	1	0	0	1	0.000329489	.	.	.	797733	EEG_with_focal_epileptiform_discharges|not_provided|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42	Human_Phenotype_Ontology:HP:0010840,Human_Phenotype_Ontology:HP:0011185,MedGen:C4021199|MedGen:C3661900|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.389	0.433139985062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554393704	3.699e-05	3.283e-05	4.045e-05	3.33e-05	0.0002	2.836e-05	2.536e-05	8.7e-05	6.513e-05	3.863e-05	0	0	0	0	0	3.19e-05	7.887e-05	0.0002	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.022	0.60337	D	.	.	.	.	.	.	0.000000	0.00162	N	7739.210000	0.601483	0.32542	D	2.395	0.69210	M	-1.48	0.97583	T	-5.01	0.82450	D	0.259	0.36148	-0.2711	0.75782	T	0.577	0.84764	D	10	0.5237774	0.62792	D	0.43314	0.94021	D	0.389	0.70521	0.367	0.37524	0.851979344464	0.85055	0.42956321060431346	0.42873	0.346501304651	0.36554	0.81663942337	0.84511	D	0.734001	0.92578	D	-0.161307	0.26560	T	-0.190048	0.55586	T	0.895759463310242	0.54736	D	0.883312	0.67118	D	0.64007294	0.74835	0.43784794	0.67190	0.64007294	0.74836	0.43784794	0.67191	-5.709	0.49408	T	0.21799840223473396	0.29348	0.276	0.53587	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.847524	0.23471	16.03	0.90092486141612993	0.19375	0.31115	0.24256	N	AEFDGBHCI	0.246327	0.36710	N	-0.498210821757816	0.22139	1.18006	-0.670901627207533	0.17690	0.9417514	0.999998096444533	0.74766	0.718356	0.82227	0	0.484254	0.07192	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.14	-1.35	0.08638	0.490000	0.22112	1.702000	0.28138	-0.186000	0.09761	0.032000	0.20554	0.999000	0.35428	0.103000	0.18424	0.0:0.0:0.2558:0.7442	10.834	0.45879	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001034	0.005319	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.1667	627.06	38	chr19	13209372	.	G	C	627.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.916;DP=198;ExcessHet=0.4139;FS=1.969;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.222;SOR=0.582	GT:AD:DP:GQ:PL	0/1:23,10:33:99:193,0,519	4	0	2	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	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	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	108.56	41	chr19	13261453	.	C	T	108.56	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.346;DP=260;ExcessHet=1.383;FS=142.291;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.05;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,15:48:53:.:.:53,0,497:.	2	0	3	1
chr19	13918779	13918779	C	T	exonic	CC2D1A	.	nonsynonymous SNV	CC2D1A:NM_017721:exon9:c.C980T:p.S327L	Mental retardation, autosomal recessive 3, Autosomal recessive	3	1438	77	4	0	85	0.0287065	.	.	YES	134073	not_provided|Inborn_genetic_diseases|not_specified|CC2D1A-related_disorder|Intellectual_disability,_autosomal_recessive_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MONDO:MONDO:0012037,MedGen:C1838023,OMIM:608443,Orphanet:88616	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0055	0.00539137	0.0094	0.0013	0.0074	0.0006	0.0015	0.0109	0.0116	0.0176	0.0089908	1390	154602	rs200121704	0.0088	0.0088	0.0084	0.0093	0.0180	0.0087	0.0086	0.0166	0.0163	0.0011	0.0074	0.0222	0.0001	0.0022	0.0180	0.0087	0.0091	0.0173	0.0069	0.0069	0.0067	0.0071	0.0139	0.0066	0.0064	0.0112	0.0102	0.0016	0.0175	0.0104	0.0196	0	0.0019	0.0204	0.0093	0.0085	0.0139	0.331	0.13088	T	0.625	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.810813	0.09252	N	0.915333	1	0.08975	N	-1.39	0.00611	N	1.21	0.37230	T	-0.62	0.18248	N	0.072	0.04547	-1.0167	0.24787	T	0.027	0.11618	T	10	0.004861355	0.00104	T	.	.	.	0.052	0.14661	.	.	0.19670166235	0.19296	0.11669279904069872	0.11597	0.186972255489	0.21008	0.30116713047	0.10575	T	0.039772	0.25304	T	-0.653363	0.00069	T	-0.697661	0.05954	T	0.0041007881650206	0.00044	T	0.284172	0.05010	T	0.024865195	0.01361	0.022541357	0.00277	0.022227304	0.00870	0.023826808	0.00396	-4.605	0.32234	T	.	.	0.065	0.01810	B	.;.	.;.	0.654653	0.10228	6.968	0.85560260078759576	0.15969	0.03524	0.08710	N	AEFBI	0.041663	0.06363	N	-1.08191448286278	0.06976	0.3227283	-1.04708614803974	0.08767	0.4327007	7.93846808118909E-5	0.04552	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.05	1.51	0.22094	-0.177000	0.09789	-0.366000	0.09640	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6775:0.0:0.3225	6.921	0.23569	934	0.15400	.;.	STX10	Artery_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	1	0	0.012085	0.000000	0.012228	0.005848	0.000000	0.008621	0.015244	0.015152	0.08333	580.83	39	chr19	13918779	.	C	T	580.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.376;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.807;SOR=0.553	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1399	5	0	1	0
chr19	13932007	13932007	C	T	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001370095:exon9:c.G1552A:p.E518K	.	812	706	3	1	0	5	0.00352858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0064	0	0.0109	0	0	0.0079	0.0714	0.0088	0.0011061	171	154602	rs140715588	0.0080	0.0061	0.0081	0.0079	0.0127	0.0078	0.0078	0.0095	0.0084	0.0010	0.0034	0.0131	0.0002	0.0020	0.0127	0.0087	0.0069	0.0008	0.0060	0.0060	0.0065	0.0055	0.0091	0.0057	0.0055	0.0085	0.0083	0.0019	0	0.0075	0.0147	0	0.0026	0.0068	0.0091	0.0043	0.0006	.	.	.	0.104	0.38160	T	.	.	.	.	.	.	.	.	.	.	0.997668	0.22562	N	.	.	.	-2.66	0.90272	D	.	.	.	.	.	.	.	.	.	.	.	.	0.01039651	0.00232	T	.	.	.	.	.	.	.	0.860385415557	0.85903	.	.	.	.	.	.	.	.	.	.	-0.13744	0.30297	T	0.0347875	0.72589	D	.	.	.	0.659134	0.26825	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.58399	A	.;.	.;.	2.395404	0.30769	18.54	0.9290394207589846	0.22459	0.06614	0.12630	N	AEFDBI	0.143496	0.26621	N	.	.	.	.	.	.	0.040014604755334	0.14419	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	4.84	2.32	0.27895	0.392000	0.20527	2.177000	0.31099	0.549000	0.26987	0.002000	0.15269	0.977000	0.30130	0.980000	0.58198	0.0:0.6838:0.3162:0.0	13.654	0.61801	934	0.15400	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	594.83	42	chr19	13932007	.	C	T	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.616;DP=222;ExcessHet=0;FS=4.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.508;SOR=1.18	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	5	0	1	0
chr19	14469358	14469358	G	A	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon16:c.G1994A:p.R665Q,PKN1:NM_213560:exon16:c.G2012A:p.R671Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.173511069959	.	0.000199681	2.498e-05	0	0	0.0002	0	1.504e-05	0	0	2.59e-05	4	154602	rs549209369	1.311e-05	1.505e-05	1.231e-05	1.391e-05	0.0003	8.38e-06	6.76e-06	6.129e-05	2.535e-05	9.015e-05	6.764e-05	0	0.0001	0	0.0003	4.536e-06	1.673e-05	1.167e-05	2.639e-05	2.629e-05	2.582e-05	2.699e-05	6.579e-05	8.17e-06	5.16e-06	1.174e-05	6.26e-06	0	0	6.579e-05	0	0	0	0	4.422e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.946	0.53363	P	0.375	0.43710	B	0.000004	0.62929	U	0.000000	0.64608	0.32920	D	1.31	0.32734	L	-0.1	0.64264	T	-3.79	0.71639	D	0.858	0.86511	-0.6636	0.62117	T	0.154	0.48481	T	10	0.8182386	0.81045	D	0.173511	0.85017	D	0.316	0.63799	0.669	0.80703	0.643029370633	0.64007	0.7677684146066278	0.76725	1.13589133381	0.78785	0.81090337038	0.83630	D	0.287762	0.66056	T	-0.127008	0.31982	T	-0.155786	0.58729	T	0.789791107177734	0.45675	D	0.986501	0.95398	D	0.82539415	0.85585	0.71465737	0.83160	0.82539415	0.85587	0.71465737	0.83161	-13.033	0.89730	D	.	.	0.267	0.51165	B	.;.	.;.	5.901532	0.94001	33	0.99941076293834408	0.99797	0.93006	0.57088	D	AEFDGBCI	0.898611	0.84210	D	0.216366210691695	0.51991	3.376373	0.207211633981209	0.50249	3.218771	0.964755032039512	0.28782	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.45	2.4	0.28568	9.381000	0.96594	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.1174:0.0:0.8826:0.0	8.654	0.33217	964	0.07719	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	680.83	38	chr19	14469358	.	G	A	680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=229;ExcessHet=0;FS=3.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.729;SOR=1.424	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	5	0	1	0
chr19	15652903	15652903	C	A	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon8:c.C1066A:p.Q356K,CYP4F3:NM_000896:exon9:c.C1066A:p.Q356K,CYP4F3:NM_001199208:exon9:c.C1066A:p.Q356K,CYP4F3:NM_001199209:exon9:c.C1066A:p.Q356K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00979601664045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs777021261	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.25154	T	0.218	0.26066	T	0.001	0.07471	B	0.032	0.22131	B	0.326548	0.14184	U	0.619387	0.851153	0.28494	N	1.8	0.47472	L	-0.31	0.68030	T	-2.56	0.55339	D	0.212	0.23632	-0.8906	0.48881	T	0.176	0.51990	T	10	0.27669242	0.45233	T	0.009796	0.25563	T	0.067	0.19503	0.511	0.60846	0.671601973818	0.66882	0.27835149590478353	0.27748	0.0427411458927	0.04614	0.299213290215	0.10284	T	0.013703	0.11803	T	-0.112066	0.34428	T	-0.398751	0.33530	T	0.118696548044682	0.14302	T	0.788521	0.42806	T	0.3974182	0.60553	0.22787549	0.47812	0.3974182	0.60554	0.22787549	0.47811	-7.267	0.56728	T	.	.	0.072	0.04764	B	.;.;.;.	.;.;.;.	2.080083	0.26459	17.12	0.94672275369296444	0.25297	0.15599	0.18990	N	AEFDGBCI	0.375573	0.46005	N	-0.647669658895883	0.17528	0.9027323	-0.604161774518451	0.19386	1.039855	0.00347020439825426	0.10129	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.85	1.41	0.21461	-0.295000	0.08335	.	.	0.549000	0.26987	0.003000	0.16062	0.068000	0.22166	0.343000	0.25501	0.4283:0.3919:0.1797:0.0	5.685	0.17069	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2139.83	71	chr19	15652903	.	C	A	2139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.653;DP=598;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.083;MQ=59.81;MQRankSum=-2.184;QD=10.44;ReadPosRankSum=-1.546;SOR=0.577	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,107,1512	5	0	1	0
chr19	15807391	15807391	A	G	exonic	OR10H1	.	nonsynonymous SNV	OR10H1:NM_013940:exon1:c.T647C:p.L216P	.	424	1051	47	0	0	47	0.0218706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00497721725188	.	.	0.0040	0.0014	0.0023	0.0028	0.0008	0.0058	0.0078	0.0013	0.0001537	4	26028	rs201868341	0.0009	0.0053	0.0005	0.0012	0.0027	0.0008	0.0008	0.0017	0.0014	0.0001	0.0003	0.0005	0.0006	0.0002	0.0027	0.0010	0.0008	0.0001	9.228e-05	0.0004	5.153e-05	0.0001	0.0002	5.544e-05	4.378e-05	9.074e-05	7.031e-05	2.417e-05	0	6.58e-05	0	0	0	0	0.0002	0	0.0002	0.008	0.58626	D	0.01	0.65728	D	0.997	0.70673	D	0.976	0.73562	D	0.011531	0.29496	N	0.158488	0.937307	0.37186	D	3.125	0.87999	M	8.34	0.00254	T	-4.7	0.79829	D	0.532	0.56058	-0.6863	0.61080	T	0.002	0.00615	T	10	0.021655262	0.00523	T	0.004977	0.12566	T	0.135	0.36572	.	.	0.58541143898	0.58214	.	.	1.81049548264	0.91795	0.319713652134	0.13377	T	0.017079	0.13999	T	-0.0247959	0.48168	T	-0.273394	0.47475	T	0.970065653324127	0.68815	D	0.782522	0.41827	T	0.93926	0.95172	0.83547354	0.90541	0.93926	0.95172	0.83547354	0.90542	-10.596	0.77397	D	.	.	0.505	0.67594	A	.;.	.;.	4.128568	0.61766	24.4	0.99851351404092892	0.93102	0.16326	0.19337	N	AEFGBI	0.125126	0.24149	N	0.496662403661105	0.66893	5.009706	0.355419994741042	0.58836	4.056645	0.00147141363488097	0.08567	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	2.769000	0.47338	.	.	0.638000	0.52053	0.014000	0.18986	0.768000	0.26677	0.781000	0.36947	1.0:0.0:0.0:0.0	12.564	0.55648	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037764	0.070707	0.024457	0.038012	0.050000	0.060345	0.036585	0.030303	0.08333	36.83	215	chr19	15807391	.	A	G	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.347;DP=390;ExcessHet=0;FS=1.623;MLEAC=1;MLEAF=0.083;MQ=46.87;MQRankSum=-7.692;QD=0.17;ReadPosRankSum=2;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	5	0	1	0
chr19	15885981	15885981	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon9:c.G1058A:p.R353H	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0600389816695	0.0006	.	0.0004	0.0003	0	0.0001	0	0.0005	0	0.0005	0.0003363	52	154602	rs138250724	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0001	6.708e-05	0.0002	0.0002	3.744e-05	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0003	0	0.0001	0.0003	0.0002	0	0	0.0005	0.0005	0.0004	0.036	0.43393	D	0.043	0.49942	D	0.068	0.23728	B	0.064	0.27215	B	0.646165	0.10555	U	0.785759	0.743249	0.33846	D	2.91	0.84121	M	-0.55	0.71068	T	-3.63	0.69714	D	0.367	0.43514	-0.6323	0.63473	T	0.321	0.68969	T	10	0.21645531	0.38229	T	0.060039	0.67869	D	0.185	0.45933	.	.	0.729987623446	0.72758	0.3679043539962289	0.36704	0.217802193596	0.24309	0.28295147419	0.07907	T	0.367621	0.73266	T	-0.313721	0.07424	T	-0.350023	0.39203	T	0.0397621813788042	0.03647	T	0.819518	0.47762	T	0.20434628	0.42542	0.21911511	0.46639	0.20434628	0.42542	0.21911511	0.46638	-9.062	0.68095	D	.	.	0.079	0.07130	B	.;.	.;.	2.567354	0.33263	19.29	0.98441681649001544	0.41519	0.14143	0.18246	N	AEFGBCI	0.176571	0.30378	N	-0.435270368416672	0.24241	1.307598	-0.493777774170751	0.22325	1.211995	2.94100043432278E-4	0.06406	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.63	2.63	0.30420	0.538000	0.22869	.	.	0.465000	0.21702	0.011000	0.18532	0.000000	0.08366	0.038000	0.14061	0.0:0.8374:0.0:0.1626	5.463	0.15923	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	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1907.83	34	chr19	15885981	.	C	T	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=453;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.404;SOR=0.721	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	5	0	1	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M,NWD1:NM_001007525:exon6:c.C1688T:p.T563M,NWD1:NM_001290355:exon7:c.C1283T:p.T428M	.	435	1050	35	2	0	39	0.0182328	.	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.025732	0.005051	0.031250	0.026471	0.000000	0.043103	0.012195	0.026515	0.08333	348.83	31	chr19	16750330	.	C	T	348.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.064;DP=217;ExcessHet=0;FS=1.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.745;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1231	5	0	1	0
chr19	16951979	16951979	G	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon20:c.C2498A:p.T833N	Anterior segement dysgenesis 8, Autosomal recessive	434	1085	2	0	1	3	0.00092081	.	.	.	2811796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.00390149676305	0.0004	.	0.0012	0	0.0020	0	0	0.0016	0	0.0012	0.0004398	68	154602	rs200788931	0.0004	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	9.237e-05	0.0004	3.96e-05	2.63e-05	0	0	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0006	9.647e-05	0	0.0001	0	0	0	0	0.0008	0	0.0004	.	.	.	0.117	0.36365	T	.	.	.	.	.	.	0.240699	0.15718	N	0.614656	1	0.08975	N	.	.	.	2.55	0.13795	T	.	.	.	0.203	0.22486	-1.0044	0.28636	T	0.075	0.30272	T	9	0.042595357	0.03024	T	0.003901	0.09180	T	.	.	.	.	0.0666544352282	0.05500	.	.	0.299952561941	0.32355	0.253879219294	0.04188	T	.	.	.	-0.625615	0.00102	T	-0.755702	0.03268	T	0.0681538805365562	0.08390	T	0.819018	0.47665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954258	0.13303	9.807	0.73719462296097504	0.10430	0.38067	0.25904	N	AEFDBI	0.118753	0.23207	N	-0.948841024358326	0.09718	0.461207	-1.14636774804037	0.06833	0.3302857	0.00428880167136302	0.10487	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.14	-4.31	0.03443	2.352000	0.43735	0.120000	0.14904	-0.851000	0.02709	0.994000	0.38300	0.011000	0.20116	0.003000	0.05239	0.6361:0.1327:0.2312:0.0	6.550	0.21626	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	.	.	.	.	.	.	.	.	0.08333	995.83	36	chr19	16951979	.	G	T	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=277;ExcessHet=0;FS=1.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.658;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	5	0	1	0
chr19	16977386	16977386	C	G	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon15:c.G1740C:p.E580D	Anterior segement dysgenesis 8, Autosomal recessive	442	1073	7	0	0	7	0.00325128	.	.	.	1662127	CPAMD8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0078	0.00738818	0.0026	0.0234	0.0017	0	0.0002	0.0009	0.0022	0.0002	0.0024515	379	154602	rs138079023	0.0012	0.0012	0.0012	0.0011	0.0214	0.0011	0.0011	0.0201	0.0195	0.0214	0.0019	0.0046	0	7.496e-05	0.0065	0.0005	0.0024	0.0003	0.0065	0.0065	0.0067	0.0062	0.0211	0.0061	0.0060	0.0199	0.0195	0.0211	0	0.0023	0.0063	0	0	0.0102	0.0005	0.0062	0.0002	0.0	0.91255	D	0.032	0.53426	D	.	.	.	.	.	.	0.715225	0.06281	U	1.208260	0.999996	0.58761	D	.	.	.	-0.22	0.66474	T	-2.42	0.53096	N	0.173	0.18512	-1.0657	0.10386	T	0.051	0.21650	T	9	0.006012529	0.00135	T	.	.	.	.	.	.	.	0.618865024872	0.61577	.	.	0.397374807184	0.40824	0.42363139987	0.28336	T	.	.	.	-0.452281	0.01095	T	-0.404861	0.32820	T	0.0586524737989908	0.06954	T	0.79652	0.44001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.400520	0.18148	13.57	0.99211913250283845	0.55624	0.65121	0.32631	D	AEFGBI	0.231397	0.35463	N	-0.271333916666909	0.30261	1.685597	-0.369269081640496	0.25918	1.428362	9.8379370650637E-4	0.08091	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	2.78	1.68	0.23219	2.446000	0.44566	-0.144000	0.11487	0.547000	0.25779	1.000000	0.71638	0.000000	0.08366	0.085000	0.17524	0.0:0.6183:0.1736:0.2081	5.314	0.15154	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	0.010595	0.010204	0.010870	0.026316	0.000000	0.000000	0.006135	0.000000	0.1667	2551.06	59	chr19	16977386	.	C	G	2551.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.355;DP=425;ExcessHet=0.4139;FS=1.685;MLEAC=2;MLEAF=0.167;MQ=59.07;MQRankSum=-2.718;QD=12.15;ReadPosRankSum=0.516;SOR=0.599	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1451,0,1591	4	0	2	0
chr19	17286458	17286458	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1537A:p.A513T,ANKLE1:NM_001278443:exon9:c.G1643A:p.R548H,ANKLE1:NM_001278445:exon9:c.G1634A:p.R545H,ANKLE1:NM_152363:exon9:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	2204288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.017292828929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761566717	8.22e-06	8.893e-06	9.54e-06	6.886e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.57e-06	5.974e-05	4.481e-05	0	0	0	0	3.599e-06	1.658e-05	3.487e-05	3.942e-05	3.94e-05	2.57e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	0.006450	0.32025	N	0.305630	0.551371	0.81001	D	.	.	.	.	.	.	.	.	.	0.164	0.29429	-0.2184	0.77193	T	0.408	0.75706	T	10	0.24126422	0.41301	T	0.017293	0.38928	T	0.261	0.57352	.	.	0.479056812784	0.47537	0.28460258157871304	0.28373	0.719982598912	0.62158	0.566581487656	0.48195	T	.	.	.	-0.0475657	0.44818	T	-0.223236	0.52423	T	0.951850295066833	0.63654	D	0.864214	0.56114	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.;.	.;.	5.168871	0.86628	29.0	0.99954334554824342	0.99963	0.89786	0.50478	D	AEFDGBI	0.250428	0.37048	N	0.566366763725946	0.71084	5.598	0.57412097816838	0.73091	5.913953	0.967492108602789	0.28981	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	5.42	0.78666	5.413000	0.66140	5.694000	0.49349	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.8235:0.1764	11.737	0.51036	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1262.83	44	chr19	17286458	.	G	A	1262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.761;DP=285;ExcessHet=0;FS=4.823;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.56;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	5	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	645.65	42	chr19	17286690	.	GTT	*	645.65	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.284;DP=250;ExcessHet=2.3007;FS=1.471;MLEAC=3;MLEAF=0.25;MQ=59.9;MQRankSum=0;QD=4.3;ReadPosRankSum=0.656;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,28:36:99:.:.:1033,0,434:.	3	0	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	1/0:0,30:36:57:1849,192,57	1	1	4	0
chr19	17487313	17487313	G	T	exonic	SLC27A1	.	nonsynonymous SNV	SLC27A1:NM_198580:exon3:c.G702T:p.Q234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0187767512869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.122	0.35710	T	0.038	0.21002	B	0.018	0.18489	B	0.186289	0.16967	N	0.629145	1	0.08975	N	1.19	0.30124	L	0.78	0.49358	T	-0.84	0.22944	N	0.257	0.29081	-1.0354	0.18731	T	0.077	0.30889	T	10	0.108511806	0.20203	T	0.018777	0.40954	T	0.008	0.00669	0.373	0.38503	0.465633601861	0.46191	0.4281933782641793	0.42736	0.361961458071	0.37848	0.364443480968	0.20031	T	0.146187	0.48367	T	-0.306082	0.08097	T	-0.677442	0.07140	T	0.0506296567618847	0.05611	T	0.659134	0.27384	T	0.05332852	0.10075	0.046873327	0.06630	0.05332852	0.10074	0.046873327	0.06629	-3.682	0.19052	T	.	.	0.097	0.18206	B	.;.	.;.	0.810196	0.11810	8.382	0.95064941666665392	0.26098	0.20903	0.21210	N	AEFDGBI	0.098667	0.19877	N	-0.990682110362759	0.08802	0.4141073	-1.04057918861432	0.08904	0.4401615	0.717807966460773	0.22895	0.631981	0.41245	0	0.633656	0.55848	0	0.779548	0.98927	0	0.699875	0.68795	0	.	.	4.8	-1.19	0.09091	-0.190000	0.09612	0.776000	0.21438	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.4787:0.0:0.5213:0.0	7.640	0.27455	940	0.13648	AMP-dependent synthetase/ligase;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	736.09	33	chr19	17487313	.	G	T	736.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.511;DP=208;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.14;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:81:0,81,1215	5	0	1	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1437	82	2	0	86	0.0290541	.	.	.	138312	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified|JAK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.005051	0.017663	0.011696	0.050000	0.017241	0.027439	0.018939	0.08333	1953.83	35	chr19	17834887	.	C	T	1953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=309;ExcessHet=0;FS=7.638;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.254;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	5	0	1	0
chr19	17843141	17843141	G	C	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon5:c.C452G:p.P151R	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1486	34	1	0	36	0.0119681	.	.	.	45085	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.446	.	0.0052	0.00179712	0.0065	0.0011	0.0023	0	0.0133	0.0088	0.0058	0.0045	0.0053557	828	154602	rs55778349	0.0079	0.0079	0.0080	0.0078	0.0141	0.0078	0.0077	0.0116	0.0107	0.0012	0.0023	0.0086	0	0.0097	0.0141	0.0088	0.0077	0.0038	0.0064	0.0064	0.0061	0.0068	0.0099	0.0061	0.0060	0.0093	0.0091	0.0018	0.0044	0.0026	0.0084	0.0002	0.0107	0.0240	0.0099	0.0085	0.0029	0.074	0.37326	T	0.132	0.36101	T	0.001	0.07471	B	0.006	0.12133	B	0.744593	0.06448	N	1.125910	1	0.08975	N	1.59	0.40313	L	-0.86	0.74477	T	-2.74	0.58248	D	0.195	0.21969	-0.7213	0.59399	T	0.229	0.59472	T	10	0.009618759	0.00217	T	.	.	.	0.446	0.74797	.	.	0.978166879375	0.97792	0.7780878081368802	0.77758	0.510838577098	0.49183	0.312682539225	0.12313	T	0.559147	0.85211	D	-0.269336	0.11830	T	-0.152125	0.59056	T	0.0128600570458127	0.00220	T	0.363264	0.08416	T	0.1308466	0.30518	0.13608478	0.32565	0.1394153	0.32205	0.13426805	0.32177	-10.087	0.74431	D	0.11841599934226753	0.10923	0.077	0.06341	B	.;.;.	.;.;.	0.582550	0.09512	6.287	0.86540239096222138	0.16605	0.04468	0.10077	N	AEFDGBCI	0.110156	0.21854	N	-0.990088813637014	0.08814	0.4147538	-1.11195775571944	0.07471	0.3635221	0.999999142195806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608004	0.38603	0	0.604944	0.38103	0	.	.	4.92	-4.59	0.03158	-0.433000	0.07017	2.244000	0.31634	0.522000	0.23927	0.000000	0.06391	0.036000	0.21445	0.004000	0.06068	0.0:0.1092:0.2431:0.6477	10.713	0.45194	958	0.09170	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;.	FCHO1	Artery_Tibial	.	.	.	Likely benign	0	0	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	0.014170	0.005155	0.017711	0.020588	0.000000	0.008621	0.021605	0.000000	0.08333	284.83	33	chr19	17843141	.	G	C	284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.833;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=0.327;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	5	0	1	0
chr19	18059998	18059998	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon16:c.G1879A:p.E627K,IL12RB1:NM_005535:exon16:c.G1879A:p.E627K,IL12RB1:NM_001290024:exon17:c.G1999A:p.E667K	Immunodeficiency 30, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	349560	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|IL12RB1-related_disorder|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0502997711593	0.0003	0.000798722	0.0016	0.0002	0.0007	0	0.0008	0.0015	0.0034	0.0042	0.0008797	136	154602	rs143367415	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	3.016e-05	0.0001	0.0008	2.53e-05	0.0007	0.0026	0.0005	0.0006	0.0025	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	0	0	6.541e-05	0	0	9.411e-05	0.0034	0.0007	0.0005	0.0031	.	.	.	0.022	0.57587	D	0.886	0.48745	P	0.206	0.37138	B	0.243444	0.15662	N	0.556492	1	0.08975	N	0.83	0.20963	L	-1.69	0.82985	D	.	.	.	0.068	0.04072	-0.7239	0.59269	T	0.336	0.70289	T	10	0.005658984	0.00126	T	0.050	0.64185	D	.	.	.	.	0.837196984627	0.83564	0.11495638176315126	0.11423	0.0998762674502	0.11279	0.269627898932	0.06092	T	0.221584	0.58519	T	-0.422628	0.01646	T	-0.384468	0.35199	T	0.0331579474704862	0.02498	T	0.455954	0.13062	T	0.045579966	0.07485	0.049427263	0.07550	0.042662505	0.06510	0.038296826	0.03668	-4.54	0.31408	T	.	.	0.073	0.04806	B	.;.	.;.	0.730864	0.11002	7.660	0.98659263288509513	0.44303	0.02380	0.06763	N	AEFDGBI	0.048807	0.08368	N	-0.707493968953395	0.15810	0.8001046	-0.829217321851856	0.13788	0.7171667	0.0255451232259495	0.13655	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	1.35	0.21078	-0.075000	0.11392	-1.364000	0.05615	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6617:0.2178:0.1205	4.940	0.13314	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.000000	0.006098	0.007576	0.08333	1159.83	39	chr19	18059998	.	C	T	1159.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=266;ExcessHet=0;FS=0.847;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.761;SOR=0.634	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1409	5	0	1	0
chr19	18175059	18175059	G	A	exonic	IFI30	.	nonsynonymous SNV	IFI30:NM_006332:exon2:c.G152A:p.R51Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00237536687829	.	.	7.764e-05	0.0007	8.999e-05	0	0	3.108e-05	0	0	7.12e-05	11	154602	rs200549788	7.048e-05	7.046e-05	7.08e-05	7.016e-05	0.0006	5.915e-05	5.524e-05	0.0004	0.0003	0.0006	0	0	0	0	0	7.376e-05	1.657e-05	0	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.548e-05	0	0	0	0	0.0001	0	0	0.373	0.11442	T	0.771	0.04461	T	0.028	0.19712	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	0.26	0.04380	N	0.051	0.02272	-0.9958	0.31082	T	0.032	0.13942	T	8	0.020404309	0.00470	T	0.002375	0.04618	T	0.002	0.00045	.	.	0.225215365344	0.22153	0.31011496527785143	0.30924	0.0193175331539	0.01893	0.222621142864	0.01466	T	0.010634	0.20771	T	-0.600361	0.00145	T	-0.70263	0.05683	T	0.00559782072194108	0.00061	T	0.541246	0.18358	T	0.017121237	0.00247	0.026767066	0.00785	0.017121237	0.00247	0.026767066	0.00785	-3.238	0.12951	T	.	.	0.072	0.05845	B	.;.	.;.	0.615402	0.09840	6.601	0.73084151088501248	0.10201	0.03425	0.08555	N	AEFDGBHCI	0.180580	0.30788	N	-1.58452661894019	0.01344	0.05853991	-1.63986886702582	0.01429	0.06462142	0.999995697392577	0.74766	0.609539	0.35627	0	0.52208	0.09955	0	0.493711	0.08198	1	0.616125	0.45549	0	.	.	3.36	-3.26	0.04750	-2.125000	0.01404	-4.909000	0.01931	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2592:0.0:0.4171:0.3237	3.679	0.07835	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3331.04	105	chr19	18175059	.	G	A	3331.04	.	AC=2;AF=0.167;AN=12;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.72;SOR=1.168	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	5	1	0	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q,IQCN:NM_001145305:exon4:c.G2843A:p.R948Q,IQCN:NM_025249:exon4:c.G2981A:p.R994Q	.	430	1063	28	1	0	30	0.0139147	.	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.020408	0.012228	0.000000	0.000000	0.000000	0.021341	0.003788	0.08333	1711.83	38	chr19	18257742	.	C	T	1711.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=304;ExcessHet=0;FS=2.247;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.875;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	5	0	1	0
chr19	18444857	18444857	G	C	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon12:c.C1761G:p.N587K	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0434998648516	.	0.000599042	0.0005	0	0.0002	0	0	7.602e-05	0	0.0029	0.0003687	57	154602	rs568878298	0.0002	0.0002	8.864e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	6.713e-05	0.0003	0	0	0.0006	1.889e-05	3.318e-05	0.0029	0.0001	0.0001	7.706e-05	0.0001	0.0021	6.505e-05	5.317e-05	0.0011	0.0009	0	0	0	0.0006	0	0	0	4.41e-05	0.0005	0.0021	0.006	0.61437	D	0.042	0.63109	D	0.995	0.67487	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.02	0.55341	M	1.98	0.21865	T	-3.53	0.68532	D	0.358	0.51226	-1.1041	0.03630	T	0.090	0.34518	T	10	0.014342755	0.00302	T	0.043	0.61013	D	0.109	0.30843	0.418	0.45873	0.584147545485	0.58087	0.19120281255201146	0.19038	0.863994206934	0.69109	0.730985343456	0.71649	T	0.238891	0.60688	T	-0.483543	0.00705	T	-0.471344	0.25371	T	0.158863580638249	0.17787	T	0.871113	0.60854	D	0.6056391	0.72994	0.47900754	0.69822	0.6056391	0.72995	0.47900754	0.69822	-10.886	0.79029	D	.	.	0.257	0.66138	B	.;.	.;.	4.259945	0.64735	24.7	0.99742601368468353	0.83629	0.92790	0.56552	D	AEFBI	0.402440	0.47652	N	0.186306658775754	0.50543	3.243178	0.153296743359521	0.47318	2.963731	0.999580058944541	0.40607	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.87	2.66	0.30672	2.170000	0.42071	5.781000	0.49805	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1477:0.0:0.8523:0.0	10.171	0.42084	958	0.09170	Occludin homology domain;Occludin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2060.04	63	chr19	18444857	.	G	C	2060.04	.	AC=2;AF=0.167;AN=12;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.7;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	5	1	0	0
chr19	19258190	19258190	T	C	exonic	HAPLN4	.	nonsynonymous SNV	HAPLN4:NM_023002:exon5:c.A836G:p.K279R	.	428	1056	34	4	0	42	0.0194986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00299521	0.0143	0.0015	0.0022	0	0.0045	0.0025	0.0116	0.0392	0.0021539	333	154602	rs201414204	0.0016	0.0017	0.0011	0.0022	0.0194	0.0016	0.0016	0.0185	0.0182	6.437e-05	0.0006	0.0031	5.473e-05	0.0001	0.0114	0.0004	0.0022	0.0194	0.0011	0.0011	0.0010	0.0012	0.0133	0.0009	0.0009	0.0107	0.0097	0.0001	0	0.0018	0.0026	0.0002	0.0005	0	0.0007	0.0014	0.0133	0.271	0.15984	T	0.526	0.10245	T	0.025	0.19245	B	0.021	0.19346	B	0.000003	0.62929	N	0.058018	0.894269	0.36022	D	0.965	0.23975	L	2.95	0.09635	T	-0.79	0.21860	N	0.369	0.41063	-0.9904	0.32500	T	0.017	0.06759	T	10	0.0058834255	0.00132	T	.	.	.	0.086	0.25016	.	.	0.32714864917	0.32323	0.4739718359760729	0.47316	0.620021856385	0.56332	0.927210330963	0.98822	D	0.014104	0.12071	T	-0.556225	0.00267	T	-0.556818	0.16677	T	0.0116839927628231	0.00179	T	0.659534	0.26859	T	0.20082027	0.42070	0.1535322	0.36074	0.20082027	0.42070	0.1535322	0.36073	-1.381	0.01537	T	.	.	0.133	0.28721	B	.	.	3.465754	0.48328	22.6	0.97823274546563888	0.36207	0.69443	0.34190	D	AEFDBI	0.354650	0.44665	N	-0.392574730425714	0.25732	1.399093	-0.223502104458518	0.30696	1.730541	0.0180411344275258	0.13016	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	5.630000	0.67480	.	.	0.515000	0.23462	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	11.792	0.51345	814	0.42100	Link domain|Link domain|Link 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	0.006639	0.000000	0.002740	0.005952	0.000000	0.017857	0.006211	0.015267	0.08333	588.83	33	chr19	19258190	.	T	C	588.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=232;ExcessHet=0;FS=1.036;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.32;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	5	0	1	0
chr19	19320877	19320888	GGCAGCGGCCCA	-	exonic	MAU2	.	nonframeshift deletion	MAU2:NM_015329:exon1:c.18_29del:p.Q10_A13del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.000599042	0.0076	0.0011	0.0180	0	0.0027	0.0092	0.0093	0.0070	0.0001153	3	26028	rs550594758	0.0038	0.0036	0.0039	0.0037	0.0052	0.0037	0.0037	0.0045	0.0043	0.0007	0.0052	0.0002	5.804e-05	8.823e-05	0.0020	0.0043	0.0032	0.0030	0.0025	0.0025	0.0026	0.0024	0.0039	0.0023	0.0022	0.0035	0.0033	0.0010	0	0.0035	0	0	0	0	0.0039	0.0033	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	506.79	33	chr19	19320876	.	CGGCAGCGGCCCA	C	506.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.29;DP=169;ExcessHet=0;FS=3.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.097;SOR=1.278	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,845	5	0	1	0
chr19	19544848	19544848	C	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.C2303G:p.A768G	.	415	1074	33	0	0	33	0.0151307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0013	0.00279553	0.0042	0.0008	0.0029	0.0001	0.0002	0.0028	0.0054	0.0154	0.0032212	498	154602	rs183579609	0.0025	0.0025	0.0020	0.0031	0.0231	0.0025	0.0024	0.0199	0.0187	0.0009	0.0017	0.0043	5.048e-05	0.0004	0.0231	0.0016	0.0031	0.0156	0.0020	0.0020	0.0018	0.0023	0.0161	0.0018	0.0018	0.0133	0.0122	0.0009	0	0.0015	0.0063	0	9.409e-05	0.0102	0.0020	0.0028	0.0161	0.281	0.15458	T	0.365	0.16766	T	0.67	0.41173	P	0.138	0.33406	B	0.004102	0.34102	N	0.294180	0.973073	0.25567	N	0	0.06538	N	2.92	0.09915	T	-1.73	0.41046	N	0.178	0.20660	-1.0066	0.27973	T	0.012	0.04416	T	10	0.006175101	0.00139	T	.	.	.	0.026	0.05648	.	.	0.221734844693	0.21761	0.48943640471560984	0.48863	0.540324238068	0.51227	0.587623178959	0.51159	T	0.059749	0.31200	T	-0.638053	0.00086	T	-0.676322	0.07210	T	0.00500560574170787	0.00054	T	0.763824	0.39073	T	0.12832758	0.30005	0.07520777	0.16535	0.12832758	0.30005	0.07520777	0.16534	-3.199	0.12468	T	.	.	0.110	0.21239	B	.;.	.;.	2.135784	0.27195	17.38	0.98322670361795883	0.40261	0.14627	0.18502	N	AEFBI	0.097155	0.19600	N	-0.415863986299695	0.24913	1.348598	-0.422221171552598	0.24347	1.332705	0.0472752000595685	0.14724	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.89	2.7	0.31007	1.369000	0.33832	.	.	0.524000	0.24156	0.011000	0.18532	0.640000	0.25910	0.920000	0.45560	0.0:0.6119:0.1984:0.1897	4.381	0.10728	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005155	0.012262	0.035088	0.000000	0.017241	0.003049	0.022727	0.08333	951.83	36	chr19	19544848	.	C	G	951.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=265;ExcessHet=0;FS=1.832;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.768;SOR=0.984	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1370	5	0	1	0
chr19	19546009	19546009	G	A	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.G3464A:p.R1155Q	.	.	.	.	.	.	.	.	.	.	.	4120941	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0162089660237	.	.	4.951e-05	0	0	0	0	4.623e-05	0	0.0003	1.29e-05	2	154602	rs746840643	2.031e-05	2.394e-05	1.762e-05	2.314e-05	0.0002	1.391e-05	1.192e-05	0.0001	9.375e-05	0	0	0	0.0002	0	0	1.333e-05	0	5.92e-05	1.314e-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	0	0.0005	0	0.217	0.19157	T	0.835	0.03663	T	0.006	0.13644	B	0.001	0.04355	B	0.158109	0.17750	N	0.536654	0.999958	0.19072	N	0.515	0.13537	N	0.63	0.53088	T	-1.04	0.27259	N	0.076	0.05037	-1.0626	0.11118	T	0.056	0.23639	T	10	0.04168898	0.02847	T	0.016209	0.37354	T	0.017	0.02790	0.24	0.17218	0.363944505237	0.36005	0.2603403048460849	0.25948	0.414632045757	0.42137	0.477432101965	0.35703	T	0.031378	0.22016	T	-0.458004	0.01011	T	-0.602181	0.12629	T	0.0122962221503258	0.00199	T	0.560744	0.19617	T	0.044597402	0.07156	0.04413037	0.05648	0.044597402	0.07156	0.04413037	0.05648	-4.264	0.27669	T	.	.	0.069	0.03093	B	.;.	.;.	0.801897	0.11727	8.304	0.94149247972649064	0.24346	0.02707	0.07358	N	AEFDBI	0.046933	0.07849	N	-1.16232842632114	0.05580	0.2547392	-1.1367958248366	0.07007	0.3392831	0.0183506854037963	0.13047	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.16	0.464	0.15918	-0.362000	0.07655	.	.	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.783000	0.37026	0.2846:0.1596:0.5558:0.0	4.568	0.11593	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1391.83	36	chr19	19546009	.	G	A	1391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.656;DP=308;ExcessHet=0;FS=4.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.201;SOR=0.379	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.08333	648.83	34	chr19	19563561	.	C	T	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.175;DP=224;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.467;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	5	0	1	0
chr19	19711725	19711725	C	T	exonic	ZNF14	.	nonsynonymous SNV	ZNF14:NM_021030:exon4:c.G1556A:p.R519Q	.	.	.	.	.	.	.	.	.	.	.	3353649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.00169006045905	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs201226556	0.0001	0.0001	0.0001	0.0001	3.237e-05	0.0001	9.967e-05	2.37e-05	2.103e-05	0	0	0.0046	2.519e-05	1.872e-05	0	3.237e-05	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	5.843e-05	4.24e-05	2.417e-05	0	0	0.0060	0	0	0	0.0001	0	0	1.0	0.00964	T	0.464	0.12456	T	0.964	0.55854	D	0.168	0.35187	B	.	.	.	.	1	0.08975	N	-0.265	0.03777	N	3.66	0.04228	T	0.05	0.06369	N	0.11	0.09631	-0.9367	0.43134	T	0.006	0.01907	T	9	0.009927243	0.00223	T	0.00169	0.02805	T	0.155	0.40530	.	.	0.326881540566	0.32305	0.0108221051433354	0.01043	0.311106295773	0.33413	0.223590970039	0.01527	T	0.016983	0.13935	T	-0.563177	0.00243	T	-0.866445	0.00776	T	0.11184275039425	0.13612	T	0.623938	0.24053	T	0.019801095	0.00519	0.02999904	0.01403	0.019801095	0.00518	0.02999904	0.01402	-5.118	0.38096	T	.	.	0.120	0.24833	B	.	.	1.357851	0.17661	13.30	0.93512409967776078	0.23325	0.00008	0.00134	N	AEFBHCI	0.014029	0.00208	N	-0.946927267391607	0.09762	0.4634409	-1.09585467088347	0.07781	0.379865	0.00356354762358558	0.10179	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-2.34	0.06321	-1.242000	0.03018	.	.	-0.620000	0.04556	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.2928:0.3883:0.3189	3.429	0.06994	572	0.70300	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	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	779.83	40	chr19	19711725	.	C	T	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.487;DP=250;ExcessHet=0;FS=5.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.524;SOR=1.08	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1275	5	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	240.83	111	chr19	21383191	.	G	A	240.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.484;DP=287;ExcessHet=0;FS=6.009;MLEAC=1;MLEAF=0.083;MQ=58.33;MQRankSum=-8.597;QD=2.17;ReadPosRankSum=0.8;SOR=1.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1036:.	5	0	1	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	117.83	107	chr19	21383196	.	T	C	117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=283;ExcessHet=0;FS=9.983;MLEAC=1;MLEAF=0.083;MQ=58.51;MQRankSum=-9.211;QD=1.1;ReadPosRankSum=0.847;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1036:.	5	0	1	0
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.79	103	chr19	21383203	.	A	AACTC	39.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.014;DP=279;ExcessHet=0;FS=5.45;MLEAC=1;MLEAF=0.083;MQ=58.71;MQRankSum=-8.839;QD=0.39;ReadPosRankSum=0.56;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1036:.	5	0	1	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39.79	103	chr19	21383205	.	GTCAA	G	39.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.05;DP=279;ExcessHet=0;FS=5.45;MLEAC=1;MLEAF=0.083;MQ=58.92;MQRankSum=-9.472;QD=0.39;ReadPosRankSum=-0.044;SOR=1.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1036:.	5	0	1	0
chr19	21405835	21405835	A	G	exonic	ZNF493	.	nonsynonymous SNV	ZNF493:NM_001076678:exon3:c.A232G:p.S78G,ZNF493:NM_145326:exon3:c.A235G:p.S79G	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00101507814385	0.0005	0.000199681	0.0006	0	0	0.0006	0	0.0008	0	0.0005	0.0005627	87	154602	rs139629271	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0008	0	0.0001	0.0049	0.0003	0.0002	0.0005	0.0008	0.0010	0.0005	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0007	0.0006	4.864e-05	0	0.0003	0.0040	0.0012	0	0	0.0009	0.0010	0.0004	0.316	0.41915	T	0.103	0.49663	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	5.58	0.06445	T	-1.67	0.45042	N	0.132	0.14480	-0.9462	0.41615	T	0.008	0.02679	T	9	0.0076075494	0.00173	T	0.001015	0.01096	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.006762927482861741	0.00643	0.0172856146283	0.01676	0.355219602585	0.18688	T	.	.	.	-0.59519	0.00156	T	-0.730815	0.04291	T	0.00637228007168246	0.00071	T	0.259974	0.22664	T	.	.	.	.	.	.	.	.	0.927	0.00313	T	.	.	0.068	0.02960	B	.;.;.;.	.;.;.;.	0.512869	0.08815	5.595	0.64011227280780336	0.07377	0.00475	0.02270	N	AEFBI	0.026325	0.01955	N	-1.67893687762194	0.00919	0.03979802	-1.75961023268129	0.00897	0.04013182	2.38803004849035E-5	0.03498	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.13	-2.27	0.06458	-1.769000	0.01890	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4509:0.3099:0.2392:0.0	2.256	0.03808	988	0.01987	Krueppel-associated box;.;Krueppel-associated box;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	332.83	43	chr19	21405835	.	A	G	332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.419;DP=294;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=0.166;SOR=0.893	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	5	0	1	0
chr19	21807887	21807887	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256654:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256653:exon4:c.G2177A:p.R726Q,ZNF43:NM_003423:exon4:c.G2150A:p.R717Q,ZNF43:NM_001256650:exon6:c.G2132A:p.R711Q,ZNF43:NM_001256648:exon7:c.G2132A:p.R711Q,ZNF43:NM_001256649:exon7:c.G2132A:p.R711Q	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0012786648347	.	0.000199681	3.335e-05	0	0	0	0	6.045e-05	0	0	3.88e-05	6	154602	rs560664191	2.602e-05	3.147e-05	2.044e-05	3.165e-05	4.641e-05	1.934e-05	1.693e-05	1.747e-05	1.504e-05	0	0	0	0	0	0	2.519e-05	9.943e-05	4.641e-05	2.699e-05	3.994e-05	2.632e-05	2.77e-05	2.981e-05	8.31e-06	5.25e-06	4.95e-06	1.85e-06	2.495e-05	0	0	0	0	0	0	2.981e-05	0.0005	0	1.0	0.00964	T	1.0	0.02733	T	0.084	0.24799	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	3.19	0.35960	T	-0.34	0.12661	N	0.063	0.04307	-0.9945	0.31432	T	0.042	0.17994	T	9	0.031441808	0.01279	T	0.001279	0.01759	T	0.006	0.00375	0.376	0.38994	0.29385284311	0.29004	0.011838944557071615	0.01143	0.0254987253627	0.02608	0.237254887819	0.02548	T	0.021032	0.16449	T	-0.301356	0.08532	T	-0.670653	0.07567	T	0.0184259192675756	0.00559	T	0.0169983	0.00095	T	0.010705286	0.00009	0.020856379	0.00159	0.010705286	0.00009	0.020856379	0.00159	-2.637	0.06790	T	.	.	0.250	0.48428	B	.;.;.;.;.	.;.;.;.;.	0.038927	0.04558	1.243	0.098929165228744675	0.00112	0.00016	0.00195	N	AEFBCI	0.013902	0.00201	N	-1.27505651504773	0.03978	0.1787162	-1.32551322881208	0.04103	0.1928375	2.69662795448923E-4	0.06244	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	1.76	-0.439	0.11652	-0.688000	0.05251	.	.	-1.790000	0.00639	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.763:0.0:0.237	6.454	0.21120	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2632.06	34	chr19	21807887	.	C	T	2632.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=341;ExcessHet=0.4139;FS=3.411;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.968;SOR=0.476	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1610,0,1189	4	0	2	0
chr19	21973353	21973353	C	T	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G1681A:p.A561T	.	.	.	.	.	.	.	.	.	.	.	2198418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.00130317686133	0.0007	0.000998403	0.0002	0.0028	8.949e-05	0	0	0	0	0	0.0003842	10	26028	rs192588574	0.0001	0.0001	0.0002	9.916e-05	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0001	3.83e-05	0	0	0.0002	4.497e-06	0.0005	1.16e-05	0.0010	0.0010	0.0009	0.0011	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0003	0	0	0	0	5.911e-05	0.0005	0	0.133	0.26409	T	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.23	0.09627	N	2.56	0.13673	T	-1.91	0.44471	N	0.061	0.03283	-0.9578	0.39589	T	0.016	0.06329	T	6	0.006884128	0.00156	T	0.001303	0.01809	T	0.003	0.00094	.	.	0.260735089382	0.25697	0.009917596057716388	0.00953	0.00847670665438	0.00769	0.317813277245	0.13090	T	0.004127	0.03542	T	-0.729764	0.00024	T	-0.824397	0.01366	T	0.00805580793436602	0.00095	T	0.0611939	0.00446	T	0.030840507	0.02818	0.055502743	0.09747	0.030840507	0.02818	0.055502743	0.09746	-8.217	0.62539	D	.	.	0.123	0.25817	B	.	.	0.160892	0.05513	1.977	0.45403375356760817	0.03561	0.03342	0.08423	N	AEFBHCI	0.039636	0.05785	N	-0.793100130091209	0.13489	0.6648601	-0.985552077478491	0.10109	0.507089	1.13476124226421E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	0.47	0.15957	-3.300000	0.00577	.	.	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5287:0.3485:0.0:0.1228	4.527	0.11392	988	0.01987	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	0.001586	0.000000	0.001359	0.004098	0.000000	0.008621	0.000000	0.000000	0.08333	1443.83	37	chr19	21973353	.	C	T	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.462;DP=424;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.083;MQ=54.87;MQRankSum=-1.536;QD=14.73;ReadPosRankSum=0.956;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr19	22314444	22314444	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1027G:p.T343A	.	430	1085	5	0	2	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00225949283744	.	.	0.0002	0.0001	0.0003	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs764887966	0.0028	0.0041	0.0026	0.0030	0.0085	0.0027	0.0027	0.0078	0.0075	0.0006	0.0074	0.0019	0.0085	0.0053	0.0030	0.0020	0.0041	0.0072	0.0018	0.0040	0.0016	0.0019	0.0051	0.0016	0.0015	0.0035	0.0032	0.0002	0	0.0044	0.0003	0.0008	0.0019	0	0.0022	0.0010	0.0051	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	5.48	0.00939	T	.	.	.	0.196	0.21580	-0.9677	0.37673	T	0.005	0.01506	T	6	0.0062211454	0.00140	T	0.002259	0.04314	T	.	.	.	.	0.0297737177859	0.01360	0.006950557827424315	0.00662	0.0117517464384	0.01108	0.406716108322	0.26003	T	0.013321	0.11547	T	-0.600712	0.00144	T	-0.630952	0.10343	T	0.00283690446206348	0.00030	T	0.00827695	0.00038	T	0.054282665	0.10392	0.09702577	0.23077	0.054282665	0.10391	0.09702577	0.23077	-7.621	0.58457	D	.	.	0.091	0.13080	B	.	.	1.310056	0.17132	12.98	0.43167113511087324	0.03231	0.35119	0.25227	N	AEFBCI	0.071668	0.14277	N	-0.7708437796746	0.14074	0.6981655	-0.983818581312014	0.10148	0.5092959	1.31273438236576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.106000	0.30712	.	.	0.221000	0.18078	0.006000	0.17386	0.000000	0.08366	0.095000	0.18041	0.513:0.0:0.0:0.487	4.317	0.10440	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	168.83	36	chr19	22314444	.	A	G	168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.94;DP=255;ExcessHet=0;FS=5.456;MLEAC=1;MLEAF=0.083;MQ=59.55;MQRankSum=-3.915;QD=2.25;ReadPosRankSum=-4.174;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,9:75:99:0|1:22314389_T_A:179,0,2589:22314389	5	0	1	0
chr19	22315414	22315414	G	A	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G1997A:p.S666N	.	437	1080	4	1	0	6	0.00277008	.	.	.	3351186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00290938411645	.	0.000199681	0.0004	0	0.0003	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs76060577	0.0001	0.0001	0.0001	0.0001	0.0084	0.0001	9.425e-05	0.0065	0.0058	8.971e-05	8.959e-05	0	0	0	0.0084	7.739e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0003	0.0010	0.0002	.	.	.	0.548	0.09489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.565	0.39561	L	3.18	0.07478	T	.	.	.	0.087	0.06454	-0.9159	0.46103	T	0.012	0.04558	T	6	0.028528452	0.00984	T	0.002909	0.06162	T	.	.	.	.	0.0297737177859	0.01360	0.019517494350364255	0.01905	0.00892015054341	0.00808	0.335800886154	0.15808	T	0.001417	0.00874	T	-0.627771	0.00099	T	-0.902857	0.00483	T	0.0296098236783413	0.01930	T	0.0259474	0.00157	T	0.026525745	0.01720	0.06902451	0.14491	0.026525745	0.01720	0.06902451	0.14491	-1.625	0.02041	T	.	.	0.199	0.42215	B	.	.	-0.890324	0.00942	0.036	0.22874484851242882	0.00941	0.00077	0.00530	N	AEFBI	0.017080	0.00424	N	-1.48439147408751	0.01960	0.08605439	-1.69226487636316	0.01172	0.05273191	2.79164052675671E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.996	-1.99	0.07047	-4.981000	0.00191	.	.	-3.008000	0.00140	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.2765:0.4925:0.231:0.0	4.146	0.09682	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008743	0.005051	0.010870	0.005319	0.000000	0.025862	0.009202	0.007576	0.1667	3338.04	103	chr19	22315414	.	G	A	3338.04	.	AC=2;AF=0.167;AN=12;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=57.33;QD=32.41;SOR=0.752	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	5	1	0	0
chr19	22758281	22758281	C	A	exonic	ZNF99	.	nonsynonymous SNV	ZNF99:NM_001080409:exon4:c.G1628T:p.G543V	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00207987466933	.	0.00159744	0.0011	0.0001	0.0003	0.0001	0	0.0001	0.0022	0.0070	0.000912	141	154602	rs553302869	0.0005	0.0005	0.0003	0.0007	0.0070	0.0005	0.0005	0.0066	0.0064	2.999e-05	0.0001	0	2.537e-05	1.876e-05	0.0044	6.763e-05	0.0007	0.0070	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0.0004	0	0	7.358e-05	0	0.0050	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99998	0.54805	D	3.32	0.90714	M	4.83	0.01493	T	-8.26	0.96915	D	0.233	0.31478	-1.1351	0.01553	T	0.022	0.09559	T	9	0.0081532	0.00185	T	0.00208	0.03828	T	0.082	0.23913	.	.	0.165133752707	0.16062	0.01136654299084229	0.01096	0.126169370151	0.14220	0.28276348114	0.07881	T	0.279856	0.65255	T	-0.529613	0.00386	T	-0.529943	0.19292	T	0.177378983733454	0.19068	T	0.0136111	0.00570	T	0.07586543	0.17121	0.15553485	0.36453	0.07586543	0.17121	0.15553485	0.36453	-9.509	0.70915	D	.	.	0.659	0.71290	P	.;.	.;.	1.680886	0.21424	15.19	0.98559915324653502	0.42961	0.06676	0.12695	N	AEFBI	0.095074	0.19215	N	-0.217451247973914	0.32416	1.828005	-0.567882460091762	0.20332	1.095	1.56114472654688E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-0.0721	0.13074	0.264000	0.18264	.	.	0.303000	0.18983	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.0:0.7372:0.2628:0.0	7.811	0.28393	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001064	0.000000	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.08333	643.83	35	chr19	22758281	.	C	A	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.615;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=1.14;QD=10.73;ReadPosRankSum=0.321;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	5	0	1	0
chr19	22976237	22976237	G	A	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.C1100T:p.P367L	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00232222707758	.	.	0.0035	0.0005	0.0011	0	0.0015	0.0043	0.0011	0.0063	0.0027278	71	26028	rs536474622	0.0001	0.0042	9.266e-05	0.0001	0.0004	0.0001	9.504e-05	0.0003	0.0002	5.992e-05	0.0002	0.0004	0	0.0002	0.0004	8.502e-05	0.0002	0.0004	0.0005	0.0041	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0005	7.398e-05	0	0.0009	0.0006	0	0	0	0.0007	0.0010	0.0009	.	.	.	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.945	0.52268	M	0.46	0.56281	T	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.009609699	0.00216	T	0.002322	0.04479	T	.	.	.	.	0.609319324463	0.60618	0.011339675702604374	0.01093	0.107596404496	0.12144	0.33285087347	0.15364	T	0.150814	0.49046	T	-0.532233	0.00373	T	-0.525616	0.19726	T	.	.	.	0.0656934	0.00478	T	0.024016216	0.01194	0.04775818	0.06948	0.024016216	0.01193	0.04775818	0.06947	-5.09	0.37802	T	.	.	0.323	0.54703	B	.	.	2.794550	0.36740	20.3	0.46188772883500911	0.03681	0.00546	0.02508	N	AEFBHCI	0.112277	0.22199	N	.	.	.	.	.	.	0.015298917360302	0.12697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	1.734000	0.37790	.	.	-0.678000	0.04252	0.172000	0.23960	0.000000	0.08366	0.035000	0.13729	0.0:0.0:1.0:0.0	8.841	0.34303	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	476.83	36	chr19	22976237	.	G	A	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.73;MQRankSum=-3.374;QD=3.56;ReadPosRankSum=-2.085;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1248:.	5	0	1	0
chr19	22976250	22976250	T	C	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.A1087G:p.T363A	.	427	1072	23	0	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00131360279662	.	.	0.0029	0.0003	0.0011	0	0.0012	0.0034	0.0011	0.0057	0.0008837	23	26028	rs576071481	1.452e-05	0.0024	1.237e-05	1.669e-05	0.0002	9.33e-06	7.92e-06	2.333e-05	1.458e-05	0	0	3.929e-05	0	9.473e-05	0.0002	7.264e-06	1.678e-05	5.931e-05	0.0002	0.0035	0.0001	0.0002	0.0009	0.0001	9.445e-05	0.0003	0.0002	2.451e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0009	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.23182	L	1.73	0.26445	T	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.009743005	0.00219	T	0.001314	0.01834	T	.	.	.	.	0.33440975612	0.33058	0.009870223699162609	0.00949	0.0399763604797	0.04273	0.366010546684	0.20258	T	0.087927	0.38049	T	-0.63163	0.00093	T	-0.674942	0.07295	T	.	.	.	0.0711929	0.00519	T	0.0283954	0.02172	0.065467834	0.13273	0.0283954	0.02171	0.065467834	0.13273	-6.879	0.53144	T	.	.	0.117	0.23779	B	.	.	1.539942	0.19747	14.42	0.55309102541028787	0.05315	0.01667	0.05336	N	AEFBHCI	0.133353	0.25298	N	.	.	.	.	.	.	7.20643370714345E-4	0.07685	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	3.188000	0.50658	.	.	-0.672000	0.04293	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	6.947	0.23704	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	348.83	36	chr19	22976250	.	T	C	348.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=351;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.083;MQ=59.48;MQRankSum=-2.269;QD=2.58;ReadPosRankSum=-3.809;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1248:.	5	0	1	0
chr19	22976258	22976258	A	G	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.T1079C:p.V360A	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00099473038703	.	.	0.0019	0.0002	0.0005	0	0.0005	0.0022	0.0011	0.0041	0.0003074	8	26028	rs558140186	5.509e-06	0.0011	4.108e-06	6.926e-06	3.616e-06	2.37e-06	1.71e-06	8.5e-07	5.7e-07	0	0	0	0	7.601e-05	0	3.616e-06	0	0	4.785e-05	0.0026	4.008e-05	5.598e-05	7.606e-05	2.186e-05	1.576e-05	2.921e-05	1.912e-05	0	0	6.782e-05	0.0003	0	0	0	7.606e-05	0	0	.	.	.	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.32	0.03561	N	2.36	0.16089	T	.	.	.	0.008	0.00068	.	.	.	.	.	.	.	0.007867187	0.00179	T	9.95E-4	0.01050	T	.	.	.	.	0.0138822411134	0.00435	0.007269660238008094	0.00692	0.0374973046264	0.03981	0.281963407993	0.07768	T	0.011009	0.09875	T	-0.750773	0.00017	T	-0.846082	0.01011	T	.	.	.	0.106489	0.00795	T	0.019670675	0.00502	0.059901856	0.11318	0.019670675	0.00502	0.059901856	0.11318	-5.671	0.43435	T	.	.	0.262	0.49702	B	.	.	-0.426685	0.02115	0.200	0.45190191869613971	0.03529	0.00038	0.00324	N	AEBHCI	0.055014	0.10052	N	.	.	.	.	.	.	2.19609719575419E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.89	0.07271	-0.997000	0.03816	.	.	-2.913000	0.00159	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2799:0.7201:0.0:0.0	6.698	0.22400	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	171.83	36	chr19	22976258	.	A	G	171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.59;DP=349;ExcessHet=0;FS=1.094;MLEAC=1;MLEAF=0.083;MQ=59.47;MQRankSum=-2.741;QD=1.28;ReadPosRankSum=-3.5;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1248:.	5	0	1	0
chr19	23359702	23359702	G	-	exonic	ZNF91	.	stopgain	ZNF91:NM_001300951:exon3:c.3181delC:p.L1061*,ZNF91:NM_003430:exon4:c.3277delC:p.L1093*	.	408	1098	16	0	0	16	0.00723327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000798722	0.0008	0.0002	0.0003	0	0	0.0009	0	0.0017	0.0006727	104	154602	rs376851241	0.0007	0.0007	0.0006	0.0008	0.0031	0.0006	0.0006	0.0020	0.0017	0.0002	0.0005	0.0003	0	3.744e-05	0.0031	0.0007	0.0008	0.0016	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0009	0.0008	7.22e-05	0.0197	0.0014	0.0003	0	9.429e-05	0	0.0011	0.0005	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002643	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1686.79	50	chr19	23359701	.	AG	A	1686.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.156;DP=331;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.475;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr19	24087311	24087311	C	G	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278665:exon1:c.C4G:p.P2A,ZNF254:NM_203282:exon1:c.C4G:p.P2A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0019713139561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.008	0.92824	D	0.893	0.49136	P	0.328	0.42011	B	.	.	.	.	1	0.08975	N	1.475	0.37068	L	5.63	0.06681	T	-3.92	0.73151	D	0.291	0.32921	-0.9821	0.34515	T	0.016	0.06473	T	8	0.18383685	0.33729	T	0.001971	0.03535	T	0.027	0.05988	.	.	0.163833314356	0.15978	0.04684604338762711	0.04627	0.00249987597865	0.00216	0.416550576687	0.27363	T	0.002883	0.02278	T	-0.169629	0.25290	T	-0.481437	0.24294	T	0.409370094537735	0.29294	T	0.451355	0.12777	T	0.0632271	0.13291	0.16373292	0.37966	0.0632271	0.13290	0.16373292	0.37965	-0.505	0.00586	T	.	.	0.066	0.03128	B	.;.	.;.	1.072807	0.14550	11.12	0.7371561832591732	0.10429	0.01378	0.04696	N	ALL	0.024429	0.01512	N	-0.725143181326785	0.15317	0.7708464	-0.955046768352261	0.10806	0.5466583	0.999999980546581	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	0.225	0.225	0.14598	0.299000	0.18892	.	.	0.299000	0.18918	0.058000	0.21700	0.000000	0.08366	0.055000	0.15596	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	5612.06	39	chr19	24087311	.	C	G	5612.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=603;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.424;SOR=0.817	GT:AD:DP:GQ:PL	0/1:111,107:218:99:2723,0,2590	4	0	2	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.08333	1935.83	36	chr19	31278387	.	T	C	1935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.595;DP=368;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.318;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	5	0	1	0
chr19	32676628	32676628	C	G	exonic	RGS9BP	.	nonsynonymous SNV	RGS9BP:NM_207391:exon1:c.C365G:p.S122C	Bradyopsia	0	1513	8	1	0	10	0.00329381	.	.	.	513659	Bradyopsia|not_provided|Retinal_dystrophy	Human_Phenotype_Ontology:HP:0030511,MONDO:MONDO:0012033,MedGen:C1842073,OMIM:PS608415,Orphanet:75374|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	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0688471474312	.	.	9.932e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs749927570	3.627e-05	3.42e-05	1.86e-05	5.443e-05	0.0004	2.79e-05	2.518e-05	0.0003	0.0003	0	0	0	0	2.992e-05	0.0004	9.292e-06	6.945e-05	0.0004	3.945e-05	3.938e-05	0	8.07e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0.0002	0	0	4.416e-05	0	0.0004	0.007	0.59928	D	0.014	0.62352	D	0.846	0.46778	P	0.54	0.48825	P	0.014590	0.28488	U	0.322793	1	0.08975	N	2.25	0.63811	M	0.72	0.50976	T	-2.56	0.55339	D	0.114	0.10198	-0.8634	0.51017	T	0.169	0.50987	T	10	0.20918679	0.37273	T	0.068847	0.70564	D	0.126	0.34673	0.418	0.45873	0.756747477858	0.75454	0.5535705496843362	0.55283	.	.	0.78470480442	0.79639	T	0.412436	0.76660	T	-0.447689	0.01165	T	-0.552891	0.17050	T	0.692482948303223	0.40363	D	0.713829	0.32570	T	0.19729699	0.41589	0.1607076	0.37418	0.13928048	0.32178	0.21318413	0.45818	-6.089	0.47018	T	.	.	0.146	0.32226	B	.	.	1.898755	0.24116	16.28	0.93448011439793544	0.23228	0.23749	0.22176	N	AEFDBHCI	0.122681	0.23794	N	-0.337209100052607	0.27745	1.524722	-0.512344112651966	0.21817	1.18208	0.999999995378835	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	4.68	2.5	0.29355	1.291000	0.32936	1.363000	0.25896	0.505000	0.23025	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.728:0.272:0.0	14.829	0.69764	899	0.25060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2482.04	65	chr19	32676628	.	C	G	2482.04	.	AC=2;AF=0.167;AN=12;DP=245;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.73;SOR=3.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	5	1	0	0
chr19	32960014	32960014	C	A	exonic	CEP89	.	nonsynonymous SNV	CEP89:NM_032816:exon3:c.G191T:p.R64L	.	430	1080	10	2	0	14	0.00643974	.	.	.	2024753	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0146387710424	.	.	4.965e-05	0	0	0	0	3.007e-05	0	0.0002	4.53e-05	7	154602	rs116019599	8.961e-05	8.961e-05	8.303e-05	9.625e-05	0.0010	7.689e-05	7.233e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.104e-05	9.934e-05	0.0005	6.563e-05	6.561e-05	3.853e-05	9.395e-05	0.0004	3.513e-05	2.613e-05	7.287e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.009	0.57480	D	0.008	0.69154	D	0.892	0.49086	P	0.67	0.53116	P	0.472157	0.12264	N	0.759598	0.999996	0.08975	N	2.67	0.78151	M	1.65	0.27650	T	-3.96	0.73579	D	0.724	0.73105	-0.9957	0.31109	T	0.112	0.40099	T	10	0.53333974	0.63308	D	0.014639	0.34889	T	0.132	0.35948	.	.	0.32714864917	0.32323	0.29498917775714634	0.29411	0.255115430892	0.28099	0.268362790346	0.05929	T	0.12069	0.65273	T	-0.345833	0.04993	T	-0.429994	0.29935	T	0.549925088882446	0.34475	D	0.875013	0.63576	D	0.08225193	0.18940	0.110259674	0.26584	0.08225193	0.18939	0.110259674	0.26584	-12.237	0.85986	D	.	.	0.360	0.60538	A	.;.	.;.	1.388933	0.18013	13.50	0.99350223261177117	0.60574	0.27506	0.23297	N	AEFDGBI	0.094543	0.19115	N	-0.33371719602721	0.27876	1.532904	-0.530808121958505	0.21318	1.152695	0.00213238717284779	0.09181	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.63	-0.0689	0.13087	0.167000	0.16419	-0.568000	0.08441	-0.171000	0.11205	0.053000	0.21524	0.000000	0.08366	0.004000	0.06068	0.0:0.6361:0.0:0.3639	9.209	0.36468	328	0.86572	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3910.04	128	chr19	32960014	.	C	A	3910.04	.	AC=2;AF=0.167;AN=12;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.55;SOR=1.051	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.08333	74.84	84	chr19	32999594	.	C	T	74.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.187;DP=446;ExcessHet=0;FS=3.457;MLEAC=1;MLEAF=0.083;MQ=53.78;MQRankSum=-4.015;QD=1.36;ReadPosRankSum=-1.84;SOR=1.089	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	5	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	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	.	.	.	.	.	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	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.08333	177.88	175	chr19	32999679	.	G	A	177.88	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.502;DP=793;ExcessHet=0;FS=1.368;MLEAC=1;MLEAF=0.083;MQ=54.52;MQRankSum=-3.711;QD=1.05;ReadPosRankSum=1.86;SOR=0.656	GT:AD:DP:GQ:PL	0/0:143,0:143:74:0,74,3656	5	0	1	0
chr19	34196655	34196655	T	C	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001114093:exon3:c.T307C:p.S103P,LSM14A:NM_001384420:exon3:c.T307C:p.S103P,LSM14A:NM_001384421:exon3:c.T307C:p.S103P,LSM14A:NM_001384423:exon3:c.T307C:p.S103P,LSM14A:NM_001384424:exon3:c.T307C:p.S103P,LSM14A:NM_001384425:exon3:c.T307C:p.S103P,LSM14A:NM_001384426:exon3:c.T307C:p.S103P,LSM14A:NM_001384427:exon3:c.T307C:p.S103P,LSM14A:NM_001384428:exon3:c.T307C:p.S103P,LSM14A:NM_001384429:exon3:c.T307C:p.S103P,LSM14A:NM_001384430:exon3:c.T25C:p.S9P,LSM14A:NM_001384435:exon3:c.T307C:p.S103P,LSM14A:NM_001384436:exon3:c.T307C:p.S103P,LSM14A:NM_015578:exon3:c.T307C:p.S103P	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0039	0.00299521	0.0037	0.0002	0.0018	0.0001	0.0009	0.0040	0.0022	0.0088	0.0037968	587	154602	rs149170773	0.0050	0.0050	0.0049	0.0050	0.0095	0.0049	0.0048	0.0090	0.0088	0.0007	0.0013	0.0034	7.58e-05	0.0007	0.0044	0.0053	0.0047	0.0095	0.0033	0.0033	0.0034	0.0032	0.0109	0.0031	0.0030	0.0085	0.0077	0.0009	0.0022	0.0016	0.0029	0.0002	0.0007	0	0.0053	0.0024	0.0109	0.075	0.35165	T	0.318	0.22223	T	0.006	0.61912	B	0.009	0.70027	B	0.000060	0.53742	D	0.171191	0.999982	0.58761	D	2.24	0.63355	M	1.56	0.46777	T	-2.07	0.51157	N	0.368	0.40963	-0.9647	0.38270	T	0.123	0.42505	T	10	0.008370787	0.00190	T	.	.	.	0.089	0.25827	.	.	0.488687234069	0.48499	0.45877763395615406	0.45795	1.51235230355	0.87267	0.583367943764	0.50560	T	0.012023	0.12415	T	-0.471249	0.00835	T	-0.442302	0.28552	T	0.0700592920184135	0.08660	T	0.887811	0.61653	D	0.3325327	0.55677	0.46197814	0.68760	0.3325327	0.55677	0.46197814	0.68760	-4.892	0.40003	T	.	.	0.121	0.30765	B	.;.;.;.	.;.;.;.	3.321970	0.45692	22.2	0.99853812900237782	0.93279	0.90422	0.51585	D	AEFGBI	0.546051	0.56031	D	0.100066636690499	0.46465	2.886484	0.184242584179069	0.48982	3.107181	0.999456602423443	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.477000	0.35039	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.324	0.73856	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005061	0.000000	0.000000	0.008824	0.000000	0.008621	0.009434	0.011364	0.08333	703.83	33	chr19	34196655	.	T	C	703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.54;DP=251;ExcessHet=0;FS=0.875;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.074;SOR=0.538	GT:AD:DP:GQ:PL	0/1:48,32:80:99:714,0,1153	5	0	1	0
chr19	34221713	34221713	G	A	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001384429:exon7:c.G1100A:p.R367Q,LSM14A:NM_001384435:exon7:c.G983A:p.R328Q,LSM14A:NM_001384436:exon7:c.G983A:p.R328Q,LSM14A:NM_001384423:exon8:c.G1220A:p.R407Q,LSM14A:NM_001384424:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384425:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384426:exon8:c.G1166A:p.R389Q,LSM14A:NM_001384427:exon8:c.G1160A:p.R387Q,LSM14A:NM_001384428:exon8:c.G1160A:p.R387Q,LSM14A:NM_001114093:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384420:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384421:exon9:c.G1337A:p.R446Q,LSM14A:NM_001384422:exon9:c.G1310A:p.R437Q,LSM14A:NM_001384430:exon9:c.G1061A:p.R354Q,LSM14A:NM_001384433:exon9:c.G1022A:p.R341Q,LSM14A:NM_001384434:exon9:c.G1022A:p.R341Q,LSM14A:NM_001384437:exon9:c.G839A:p.R280Q,LSM14A:NM_015578:exon9:c.G1343A:p.R448Q,LSM14A:NM_001384431:exon10:c.G1022A:p.R341Q,LSM14A:NM_001384432:exon10:c.G1022A:p.R341Q	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0005	0.0147764	0.0089	0.0004	0.0474	0.0531	0	0.0005	0.0066	0.0017	0.0083246	1287	154602	rs2274896	0.0033	0.0033	0.0035	0.0030	0.0423	0.0032	0.0031	0.0406	0.0400	0.0003	0.0400	3.827e-05	0.0423	1.873e-05	0.0002	0.0008	0.0028	0.0026	0.0044	0.0044	0.0039	0.0049	0.0480	0.0041	0.0040	0.0431	0.0412	0.0005	0	0.0209	0	0.0480	0	0	0.0009	0.0033	0.0021	0.0	0.91255	D	0.096	0.39340	T	0.998	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	2.56858e-07	0.58761	P	2.32	0.66415	M	1.54	0.30401	T	-0.86	0.23372	N	0.714	0.72656	-1.1009	0.03984	T	0.029	0.12234	T	9	0.015991926	0.00336	T	.	.	.	0.313	0.63482	.	.	.	.	0.6703764640021166	0.66975	1.63678020558	0.89322	0.600639522076	0.52994	T	0.011	0.09944	T	-0.258499	0.13077	T	-0.0985312	0.63512	T	0.0424174563124291	0.04130	T	0.886611	0.61335	D	0.3527986	0.57283	0.38844672	0.63689	0.3527986	0.57283	0.38844672	0.63689	-10.301	0.75694	D	.	.	0.277	0.53190	B	.;.;.	.;.;.	5.736247	0.93305	33	0.9995593937815116	0.99975	0.99758	0.99249	D	AEFDBI	0.921163	0.89423	D	0.887442091449457	0.91132	10.73069	0.910297442447601	0.96006	14.19961	0.999999999999904	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	9.540000	0.97163	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.621	0.99492	945	0.12563	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	743.83	48	chr19	34221713	.	G	A	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=234;ExcessHet=0;FS=1.109;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.05;SOR=0.892	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1111	5	0	1	0
chr19	34352856	34352856	C	0	exonic	GARRE1	.	.	.	.	472	317	432	294	7	1027	0.616687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5156.83	40	chr19	34352856	.	C	*	5156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.052;DP=319;ExcessHet=11.5949;FS=6.331;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.678;SOR=0.418	GT:AD:DP:GQ:PL	0/0:9,0:41:99:864,891,1185	5	0	1	0
chr19	34759750	34759750	G	A	exonic	ZNF599	.	nonsynonymous SNV	ZNF599:NM_001007248:exon4:c.C1051T:p.R351C	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00394990570462	0.0018	0.000199681	0.0011	0.0006	0.0007	0.0001	0.0005	0.0017	0.0011	0.0002	0.0011772	182	154602	rs146248056	0.0016	0.0016	0.0017	0.0015	0.0018	0.0015	0.0015	0.0018	0.0017	0.0002	0.0006	0.0011	0.0001	0.0004	0.0012	0.0018	0.0021	0.0002	0.0012	0.0012	0.0012	0.0012	0.0023	0.0010	0.0010	0.0017	0.0015	0.0003	0	0.0023	0.0006	0.0002	0.0004	0.0034	0.0017	0.0009	0.0006	0.044	0.41096	D	0.029	0.54541	D	0.044	0.21686	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	3.07	0.08547	T	-4.63	0.79229	D	0.256	0.28965	-1.0552	0.12987	T	0.025	0.10910	T	9	0.01378423	0.00291	T	0.00395	0.09337	T	0.070	0.20419	.	.	0.243972157842	0.24002	0.05945173160154679	0.05885	0.187222014402	0.21033	0.327413201332	0.14543	T	0.050664	0.28661	T	-0.514753	0.00472	T	-0.51711	0.20587	T	0.038234498723932	0.03373	T	0.286771	0.05140	T	0.1839845	0.39692	0.29036015	0.55058	0.1839845	0.39691	0.29036015	0.55057	-5.915	0.45562	T	.	.	0.242	0.47632	B	.	.	3.132827	0.42339	21.5	0.99481139247180972	0.66904	0.00004	0.00092	N	AEFDBHCI	0.086396	0.17518	N	-0.732053338472588	0.15124	0.7595273	-0.816068929759902	0.14106	0.7353612	0.00138687664441123	0.08495	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.43	2.43	0.28797	0.013000	0.13206	-2.081000	0.04242	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.892000	0.42986	0.0:0.0:1.0:0.0	10.958	0.46579	332	0.86382	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1393.83	86	chr19	34759750	.	G	A	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=270;ExcessHet=0;FS=1.782;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	5	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.026515	0.08333	1109.83	38	chr19	34958015	.	C	T	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.01;DP=308;ExcessHet=0;FS=2.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.656;SOR=0.48	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1120,0,1067	5	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.026515	0.08333	900.83	38	chr19	34958041	.	C	G	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=306;ExcessHet=0;FS=3.066;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.03;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,33:77:99:911,0,1124	5	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I,SCN1B:NM_001321605:exon3:c.G313A:p.V105I,SCN1B:NM_199037:exon3:c.G412A:p.V138I	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	1497	25	0	0	25	0.00828089	.	.	.	178737	Long_QT_syndrome|Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|SCN1B-related_disorder|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|.|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.045455	0.08333	3179.83	45	chr19	35033703	.	G	A	3179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.258;DP=434;ExcessHet=0;FS=0.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.893;SOR=0.74	GT:AD:DP:GQ:PL	0/1:114,129:243:99:3190,0,2725	5	0	1	0
chr19	35059909	35059909	C	T	exonic	HPN	.	nonsynonymous SNV	HPN:NM_001375441:exon6:c.C326T:p.A109V,HPN:NM_001384133:exon6:c.C326T:p.A109V,HPN:NM_182983:exon6:c.C326T:p.A109V,HPN:NM_002151:exon7:c.C326T:p.A109V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0144143919393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222e-06	7.524e-06	1.45e-06	3.029e-06	1.437e-05	5.9e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	1.437e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.4	0.34852	B	0.049	0.25116	B	0.002153	0.37138	N	0.209981	0.999998	0.18612	N	1.905	0.50856	L	0.21	0.59983	T	0.5	0.02945	N	0.129	0.12341	-0.9087	0.47013	T	0.069	0.28080	T	10	0.2383025	0.40948	T	0.014414	0.34508	T	0.150	0.39571	0.776	0.90157	0.676902349205	0.67416	0.5417251327410668	0.54097	0.681555556331	0.60051	0.643514275551	0.59064	T	0.129597	0.45798	T	-0.160273	0.26718	T	-0.467997	0.25732	T	0.252362817525864	0.22978	T	0.653235	0.26349	T	0.04526808	0.07382	0.08158168	0.18552	0.04526808	0.07382	0.08158168	0.18551	-3.965	0.23278	T	.	.	.	.	.	.;.	.;.	1.432922	0.18516	13.78	0.8002521609900477	0.13010	0.18644	0.20344	N	AEFBCI	0.739747	0.68420	D	-0.767458848712175	0.14164	0.7033382	-0.722390300130688	0.16403	0.8676033	0.0075187500863675	0.11484	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.17	1.38	0.21262	1.169000	0.31480	-0.010000	0.13073	-0.830000	0.02882	0.068000	0.22015	0.001000	0.17328	0.461000	0.28141	0.0:0.72:0.0:0.28	9.699	0.39341	900	0.24599	Hepsin, SRCR domain|Hepsin, SRCR domain|SRCR-like domain;Hepsin, SRCR domain|Hepsin, SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1362.83	36	chr19	35059909	.	C	T	1362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=278;ExcessHet=0;FS=5.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.127;SOR=1.363	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1032	5	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2529.4	60	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	*	2529.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.99;DP=363;ExcessHet=0.7136;FS=2.937;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.484;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:69:99:.:.:1191,1302,2763:.	4	0	2	0
chr19	35511468	35511468	-	CCACTGCTGCTGCCACTGCTGCTG	exonic	DMKN	.	nonframeshift insertion	DMKN:NM_001126057:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001126058:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001190348:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_001190349:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG,DMKN:NM_033317:exon5:c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG:p.G287_G288insSSSGSSSG	.	475	755	3	0	289	292	0.00198282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0003	0.0005	0.0036	0	0.0002	0	0.0157	0.0010543	163	154602	rs773012007	0.0021	0.0039	0.0016	0.0026	0.0273	0.0020	0.0020	0.0251	0.0243	0.0013	0.0009	5.729e-05	0.0273	0.0003	0.0010	0.0009	0.0020	0.0173	0.0031	0.0032	0.0030	0.0031	0.0266	0.0028	0.0026	0.0215	0.0196	0.0029	0	0.0007	0	0.0139	0	0	0.0024	0.0017	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2529.4	60	chr19	35511468	.	A	ACCACTGCTGCTGCCACTGCTGCTG	2529.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=363;ExcessHet=0.7136;FS=2.937;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.484;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:69:99:.:.:1191,1302,2763:.	5	0	1	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	950.98	49	chr19	35511491	.	C	*	950.98	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.29;DP=331;ExcessHet=0.095;FS=2.688;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.252;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,32:69:99:.:.:1191,0,1361:.	3	1	2	0
chr19	35511809	35511809	G	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon4:c.C689T:p.T230M,DMKN:NM_001126057:exon4:c.C689T:p.T230M,DMKN:NM_001126058:exon4:c.C689T:p.T230M,DMKN:NM_001190347:exon4:c.C689T:p.T230M,DMKN:NM_001190348:exon4:c.C689T:p.T230M,DMKN:NM_001190349:exon4:c.C689T:p.T230M,DMKN:NM_033317:exon4:c.C689T:p.T230M	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0408501596684	0.0013	0.000399361	0.0008	0	0.0011	0.0001	0	0.0011	0.0024	0.0002	0.0006856	106	154602	rs143821677	0.0009	0.0009	0.0009	0.0010	0.0114	0.0009	0.0009	0.0092	0.0084	0.0010	0.0009	0.0064	0.0003	3.747e-05	0.0114	0.0008	0.0015	0.0006	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0005	0.0006	0.0006	9.628e-05	0	0.0003	0.0066	0.0004	0	0.0238	0.0008	0.0005	0.0006	0.0	0.91255	D	0.03	0.56192	D	1.0	0.90584	D	0.982	0.84481	D	0.021082	0.26903	N	0.181162	0.94786	0.30517	N	2.35	0.67516	M	0.78	0.49358	T	-3.13	0.74427	D	0.389	0.47672	-0.5665	0.66154	T	0.247	0.61647	T	10	0.013833553	0.00292	T	0.04085	0.59602	D	0.166	0.42578	.	.	0.537495771734	0.53400	0.3212080843794247	0.32033	0.414822555637	0.42151	0.481433689594	0.36254	T	0.130357	0.45920	T	-0.259357	0.12976	T	-0.2031	0.54353	T	0.0600013646226494	0.07169	T	0.80342	0.47186	T	0.11771791	0.27747	0.19075215	0.42495	0.11771791	0.27746	0.19075215	0.42494	-5.371	0.42073	T	.	.	0.223	0.46700	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.086000	0.41532	21.4	0.99851530562455748	0.93102	0.75055	0.36733	D	AEFDBI	0.270895	0.38686	N	0.319240517857951	0.57137	3.879958	0.195817958105549	0.49616	3.16278	0.916752447316411	0.26521	0.497415	0.19182	0	0.59043	0.45803	0	0.39291	0.06387	1	0.530356	0.10902	0	.	.	4.31	3.27	0.36580	1.249000	0.32441	4.660000	0.44233	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.112:0.0:0.888:0.0	7.919	0.29000	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.012228	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2791.06	40	chr19	35511809	.	G	A	2791.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.794;DP=332;ExcessHet=0.4139;FS=2.679;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.32;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,47:85:99:.:.:1156,0,954:.	4	0	2	0
chr19	35513073	35513073	C	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon1:c.G403T:p.V135L,DMKN:NM_001126057:exon1:c.G403T:p.V135L,DMKN:NM_001126058:exon1:c.G403T:p.V135L,DMKN:NM_001190347:exon1:c.G403T:p.V135L,DMKN:NM_001190348:exon1:c.G403T:p.V135L,DMKN:NM_001190349:exon1:c.G403T:p.V135L,DMKN:NM_033317:exon1:c.G403T:p.V135L	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00279779739038	0.0012	0.000199681	0.0006	0	0.0004	0	0	0.0011	0.0022	6.06e-05	0.0006015	93	154602	rs78344601	0.0009	0.0009	0.0009	0.0009	0.0113	0.0008	0.0008	0.0091	0.0083	0.0007	0.0007	0.0065	0	3.769e-05	0.0113	0.0008	0.0014	0.0004	0.0006	0.0006	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0002	0	0.0003	0.0066	0	0	0.0238	0.0008	0.0005	0.0006	0.05	0.46910	D	0.279	0.21745	T	0.003	0.38464	B	0.002	0.36557	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.74	0.18083	T	-0.44	0.18670	N	0.037	0.01911	-1.0326	0.19618	T	0.022	0.09421	T	9	0.005305171	0.00116	T	0.002798	0.05840	T	0.028	0.06331	0.246	0.18139	0.0482279557977	0.04254	0.09819339726820685	0.09750	0.135340312128	0.15256	0.250292241573	0.03799	T	0.001503	0.00951	T	-0.515422	0.00468	T	-0.598649	0.12925	T	0.00639803055176525	0.00071	T	0.762524	0.40088	T	0.048276193	0.08389	0.056383055	0.10063	0.048276193	0.08389	0.056383055	0.10063	-4.102	0.28093	T	.	.	0.121	0.33778	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.802564	0.01101	0.050	0.80022372196091296	0.13009	0.01733	0.05477	N	AEFDBI	0.132796	0.25223	N	-1.38098534990577	0.02816	0.1249092	-1.50995618861323	0.02267	0.1040025	0.947761271341412	0.27768	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	3.14	-4.62	0.03129	-1.624000	0.02141	-3.403000	0.02813	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.4358:0.152:0.4122	5.617	0.16718	824	0.40336	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008560	0.000000	0.010870	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2094.06	81	chr19	35513073	.	C	A	2094.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=374;ExcessHet=0.4139;FS=1.246;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.94;SOR=0.839	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1111,0,1066	4	0	2	0
chr19	35527867	35527867	G	A	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.C415T:p.H139Y	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00199681	0.0009	0	8.637e-05	0	0	5.996e-05	0.0011	0.0063	0.0008021	124	154602	rs200153005	0.0005	0.0005	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	0	0.0002	3.826e-05	0	0	0.0019	1.978e-05	0.0006	0.0067	0.0003	0.0003	0.0003	0.0004	0.0087	0.0003	0.0002	0.0066	0.0059	4.817e-05	0	0.0001	0.0003	0.0002	0	0	2.94e-05	0.0009	0.0087	0.049	0.39820	D	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.8	0.42384	N	0.422	0.46180	-1.0156	0.25143	T	0.103	0.37844	T	9	0.007532388	0.00171	T	.	.	.	0.076	0.22200	0.382	0.39970	0.447213685739	0.44343	0.030110697358850545	0.02960	0.998181422514	0.74318	0.46839851141	0.34460	T	0.003867	0.03272	T	-0.512556	0.00485	T	-0.50572	0.21757	T	0.0571665815178973	0.06715	T	0.455954	0.13062	T	0.0696542	0.15277	0.11283258	0.27227	0.0696542	0.15277	0.11283258	0.27226	-8.022	0.61220	D	.	.	0.271	0.50518	B	.	.	2.673778	0.34861	19.74	0.99308528184499745	0.58906	0.48877	0.28306	N	AEFDBI	0.134244	0.25418	N	-0.0800715292223179	0.38267	2.238635	-0.180054913390997	0.32270	1.83431	0.0274848590910693	0.13776	0.497415	0.19182	0	0.563428	0.19063	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	2.75	1.58	0.22557	0.743000	0.25899	2.109000	0.30648	0.658000	0.54486	0.112000	0.23030	0.325000	0.24344	0.398000	0.26737	0.0:0.0:0.5347:0.4653	6.442	0.21058	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	2898.83	41	chr19	35527867	.	G	A	2898.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.208;DP=430;ExcessHet=0;FS=6.368;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.048;SOR=0.89	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	35668622	35668622	G	A	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.G253A:p.A85T,UPK1A:NM_007000:exon3:c.G253A:p.A85T	.	419	1096	7	0	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	0.0002	0.00299521	0.0025	0.0001	0.0005	0.0136	0	0.0012	0.0025	0.0056	0.0020116	311	154602	rs187217680	0.0012	0.0012	0.0010	0.0014	0.0183	0.0011	0.0011	0.0172	0.0168	0.0004	0.0005	0.0066	0.0183	3.753e-05	0.0096	0.0002	0.0019	0.0048	0.0009	0.0009	0.0008	0.0011	0.0135	0.0008	0.0008	0.0110	0.0100	2.408e-05	0	0.0007	0.0055	0.0135	0	0.0068	0.0003	0.0019	0.0035	0.168	0.23007	T	0.366	0.16865	T	0.004	0.14184	B	0.005	0.11217	B	0.023408	0.26448	N	0.334108	1	0.08975	N	-0.345	0.03330	N	-1.73	0.83327	D	-1.71	0.44094	N	0.154	0.18239	-0.8655	0.50864	T	0.233	0.59904	T	10	0.0093410015	0.00211	T	.	.	.	0.189	0.46613	.	.	0.130388298395	0.12655	0.8082656392887393	0.80781	0.20078548342	0.22476	0.303715914488	0.10958	T	0.09637	0.39811	T	-0.430234	0.01477	T	-0.381383	0.35561	T	0.0124863119538887	0.00206	T	0.589941	0.21689	T	0.08827576	0.20586	0.094783075	0.22450	0.08827576	0.20586	0.094783075	0.22450	-3.865	0.21779	T	.	.	0.131	0.28550	B	.;.;.;.	.;.;.;.	1.027530	0.14072	10.64	0.90902787531915896	0.20152	0.09509	0.15249	N	AEFDBI	0.070808	0.14072	N	-1.20162894363044	0.04977	0.2258106	-1.2005549174115	0.05901	0.2825243	0.00115803677584451	0.08283	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	0.496	0.16103	1.119000	0.30872	3.186000	0.36680	-0.706000	0.03979	0.008000	0.17931	0.465000	0.25022	0.000000	0.00833	0.2339:0.1326:0.6335:0.0	6.374	0.20703	894	0.26265	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005550	0.000000	0.005435	0.000000	0.000000	0.017241	0.012195	0.003817	0.08333	882.83	33	chr19	35668622	.	G	A	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.359;DP=223;ExcessHet=0;FS=1.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.02;SOR=0.495	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1355	5	0	1	0
chr19	35767177	35767177	G	A	exonic	PROSER3	.	nonsynonymous SNV	PROSER3:NM_001367856:exon9:c.G1063A:p.V355M	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs752827340	0.0002	0.0001	0.0002	0.0002	0.0030	0.0002	0.0001	0.0012	0.0008	0.0011	0.0007	0	0	0	0.0030	0.0001	0.0006	4.066e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0.0034	0.0001	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	310.83	32	chr19	35767177	.	G	A	310.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.208;DP=115;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=-0.737;SOR=0.223	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	5	0	1	0
chr19	35849354	35849354	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon7:c.G722A:p.G241E	Nephrotic syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1940737	Finnish_congenital_nephrotic_syndrome|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.427	0.0923642841533	.	.	4.39e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs774808086	3.014e-05	3.01e-05	6.816e-06	5.371e-05	0.0005	2.285e-05	2.035e-05	0.0003	0.0003	0	0	0	0	0	0	2.699e-06	3.321e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.015	0.61437	D	0.018	0.59732	D	0.967	0.56408	D	0.546	0.49068	P	0.040066	0.24099	N	0.473415	0.651075	0.30533	N	1.84	0.48285	L	-1.95	0.85003	D	-5.82	0.88289	D	0.646	0.67218	0.123	0.84590	D	0.546	0.83317	D	10	0.6704592	0.70682	D	0.092364	0.75879	D	0.427	0.73445	0.391	0.41443	0.878039913388	0.87685	0.6638083691148416	0.66317	0.226509947091	0.25203	0.631253600121	0.57324	T	0.707527	0.91631	D	-0.130261	0.31455	T	-0.0948856	0.63790	T	0.343732923269272	0.26771	T	0.709529	0.32034	T	0.5707976	0.71105	0.56636673	0.74900	0.5707976	0.71106	0.56636673	0.74900	-7.112	0.54846	T	0.10574174463086344	0.08419	0.126	0.26825	B	.;.	.;.	3.323363	0.45721	22.2	0.99514303194637965	0.68858	0.62235	0.31720	D	AEFBI	0.351727	0.44473	N	0.364589942735047	0.59514	4.131452	0.356458741296176	0.58898	4.063365	0.195682555521474	0.18055	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	2.449000	0.44592	3.953000	0.40689	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.108000	0.18652	0.0:1.0:0.0:0.0	13.646	0.61754	796	0.45353	.;.	.	.	.	.	.	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	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	514.83	40	chr19	35849354	.	C	T	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.622;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.025;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	5	0	1	0
chr19	35939891	35939891	G	A	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.G466A:p.E156K	.	431	1090	1	0	0	1	0.000458505	.	.	.	4163629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0128607232844	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1007228504	3.173e-05	3.147e-05	2.748e-05	3.603e-05	0.0002	2.433e-05	2.176e-05	0.0001	8.648e-05	5.976e-05	6.71e-05	0	0	0	0.0002	2.159e-05	1.658e-05	0.0002	2.629e-05	2.627e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.922	0.02298	T	0.913	0.02934	T	0.848	0.46844	P	0.34	0.42389	B	.	.	.	.	0.573334	0.31160	N	0.42	0.12520	N	0.66	0.52416	T	-0.53	0.16393	N	0.528	0.55799	-1.0477	0.15045	T	0.064	0.26562	T	9	0.25368336	0.42738	T	0.012861	0.31797	T	0.097	0.27909	.	.	0.726013364819	0.72358	0.3036219225284016	0.30275	1.20472787136	0.80666	0.782425403595	0.79293	T	0.005218	0.04667	T	-0.258045	0.13130	T	-0.371772	0.36682	T	0.0907810581147731	0.11311	T	0.982802	0.94195	D	0.0954969	0.22477	0.094086155	0.22256	0.0954969	0.22477	0.094086155	0.22255	-9.58	0.71356	D	.	.	0.339	0.57098	B	.;.	.;.	3.412315	0.47344	22.4	0.82408664328984049	0.14176	0.35550	0.25328	N	AEFDBI	0.304110	0.41190	N	-0.440377925295116	0.24067	1.296945	-0.441386066417426	0.23794	1.299459	0.856751002709673	0.25148	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	3.29	0.36801	3.185000	0.50635	8.540000	0.77489	0.672000	0.70159	0.628000	0.27982	1.000000	0.68203	0.289000	0.24236	0.0:0.0:0.6258:0.3742	9.772	0.39763	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1942.83	144	chr19	35939891	.	G	A	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=437;ExcessHet=0;FS=4.011;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.953;SOR=0.42	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	5	0	1	0
chr19	36039624	36039624	A	C	exonic	THAP8	.	nonsynonymous SNV	THAP8:NM_001331102:exon3:c.T371G:p.V124G,THAP8:NM_001331103:exon3:c.T242G:p.V81G,THAP8:NM_001331104:exon3:c.T242G:p.V81G,THAP8:NM_152658:exon3:c.T371G:p.V124G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0448977889489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.377e-07	6.841e-07	0	1.505e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.075	0.42794	T	0.063	0.23376	B	0.026	0.20792	B	0.000194	0.00507	N	11.898100	0.999999	0.28099	N	0.345	0.11182	N	-2.37	0.88220	D	-0.25	0.11008	N	0.167	0.17691	-0.5336	0.67405	T	0.441	0.77940	T	10	0.07907006	0.12676	T	0.044898	0.61715	D	0.160	0.41473	0.175	0.08135	0.547168864562	0.54372	0.28450443541609305	0.28363	0.086034435978	0.09718	0.43414697051	0.29776	T	0.008777	0.08035	T	-0.101977	0.36098	T	-0.384259	0.35224	T	0.0928137302398682	0.11548	T	0.221078	0.02846	T	0.05281784	0.09907	0.057438474	0.10441	0.05281784	0.09906	0.057438474	0.10440	-3.166	0.12070	T	.	.	0.082	0.08512	B	.	.	0.852301	0.12243	8.788	0.32801298745267349	0.01920	0.02634	0.07228	N	AEFBI	0.037301	0.05108	N	-1.11353620812872	0.06401	0.2945546	-1.09012314294399	0.07894	0.3858355	0.00455628455009291	0.10614	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.54	2.21	0.27042	0.220000	0.17445	0.003000	0.13321	-0.750000	0.03597	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2219:0.0:0.5751:0.2029	3.390	0.06862	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	583.83	35	chr19	36039624	.	A	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=206;ExcessHet=0;FS=4.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.736;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1422	5	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.08333	584.83	37	chr19	36720655	.	T	C	584.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=246;ExcessHet=0;FS=3.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.486;SOR=1.339	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1405	5	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	956.83	38	chr19	37186371	.	C	T	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.638;DP=281;ExcessHet=0;FS=9.565;MLEAC=1;MLEAF=0.083;MQ=53.79;MQRankSum=-2.712;QD=11.81;ReadPosRankSum=0.048;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1297	5	0	1	0
chr19	37669705	37669705	C	G	exonic	ZNF781	.	nonsynonymous SNV	ZNF781:NM_152605:exon4:c.G444C:p.Q148H	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056304071421	.	.	6.591e-05	0	0.0003	0	0	5.994e-05	0	0	5.17e-05	8	154602	rs778224456	3.899e-05	3.899e-05	3.676e-05	4.126e-05	0.0010	3.047e-05	2.783e-05	0.0005	0.0003	0	0.0004	0	0	0	0.0010	1.349e-05	0.0001	0.0001	2.629e-05	2.627e-05	0	5.381e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0	0.0002	0.067	0.35918	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.13	0.08014	T	-0.79	0.21860	N	0.098	0.09772	-0.9636	0.38488	T	0.016	0.06473	T	9	0.050664306	0.04832	T	0.00563	0.14560	T	0.020	0.03691	0.361	0.36548	0.0401082797425	0.02173	0.10600939575647776	0.10530	0.0537188991977	0.05932	.	.	.	.	.	.	-0.644744	0.00078	T	-0.823357	0.01386	T	0.0185719166429632	0.00572	T	0.115488	0.00878	T	.	.	.	.	.	.	.	.	-3.752	0.20089	T	.	.	0.401	0.59650	A	.;.	.;.	0.515027	0.08836	5.617	0.88355844912805048	0.17912	0.01448	0.04854	N	AEFGBHCI	0.096099	0.19406	N	-1.27192317424553	0.04017	0.1805543	-1.37969619620506	0.03469	0.1618808	0.0215762025236667	0.13360	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.21	-2.69	0.05668	-0.608000	0.05737	.	.	-2.130000	0.00381	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5577:0.3247:0.1176	6.808	0.22970	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	698.83	42	chr19	37669705	.	C	G	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=249;ExcessHet=0;FS=2.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.44;SOR=0.33	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1462	5	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	375.06	82	chr19	37887093	.	A	G	375.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.746;DP=417;ExcessHet=0.4139;FS=157.6;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.25;SOR=6.664	GT:AD:DP:GQ:PL	0/0:50,0:50:35:0,35,1415	4	0	2	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3	663.12	77	chr19	37887095	.	C	T	663.12	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.561;DP=401;ExcessHet=1.383;FS=244.01;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=1.13;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,1214:.	2	0	3	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	568.99	68	chr19	37887096	.	A	G	568.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.929;DP=389;ExcessHet=0.4139;FS=159.422;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.01;ReadPosRankSum=1.26;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:45,0:45:0:.:.:0,0,1214:.	1	0	2	3
chr19	37888927	37888927	C	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.G4744T:p.E1582X,WDR87:NM_031951:exon6:c.G4627T:p.E1543X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384823939	4.286e-06	4.104e-06	1.409e-06	7.242e-06	5.048e-05	1.54e-06	1.01e-06	1.678e-05	9.94e-06	0	2.8e-05	0	2.798e-05	0	0	0	0	5.048e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284609	0.81708	D	0.298823	0.88145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.648336	0.92792	33	0.99121805683957087	0.53011	0.34649	0.25117	N	AEFBI	0.095559	0.19304	N	-0.102989873893797	0.37261	2.165388	-0.484940969016352	0.22568	1.226394	0.00325016831531471	0.10012	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.85	0.416	0.15634	1.273000	0.32724	.	.	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6979:0.0:0.3021	7.822	0.28454	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	.	.	.	.	.	.	.	.	0.08333	1756.83	38	chr19	37888927	.	C	A	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=485;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.022;SOR=0.8	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	5	0	1	0
chr19	38193759	38193759	A	G	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon18:c.A4819G:p.S1607G	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00460867682745	9.9e-05	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001294	20	154602	rs368637137	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	6.285e-05	0.0001	0	0	0	0.0007	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.164e-05	6.721e-05	0.0001	8.878e-05	7.219e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.446	0.09101	T	0.393	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.003652	0.34662	N	0.238359	0.999457	0.21167	N	0.255	0.09829	N	1.54	0.30133	T	-0.89	0.24026	N	0.109	0.09490	-1.0513	0.14036	T	0.038	0.16376	T	10	0.031085193	0.01240	T	0.004609	0.11409	T	0.077	0.22490	.	.	0.0934897674506	0.08844	0.15025385662640006	0.14947	0.139067938041	0.15679	0.476527452469	0.35580	T	0.01212	0.10705	T	-0.516831	0.00459	T	-0.674192	0.07343	T	0.0174527469797103	0.00482	T	0.525647	0.17278	T	0.04953011	0.08809	0.032916024	0.02102	0.04953011	0.08809	0.032916024	0.02102	-2.931	0.09457	T	.	.	0.053	0.00269	B	.	.	0.787996	0.11583	8.175	0.6131801193180052	0.06679	0.17083	0.19681	N	AEFDBI	.	.	.	-0.740289987552836	0.14899	0.7461336	-0.659935151521523	0.17966	0.9576816	0.999999923728151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.01	3.98	0.45383	1.476000	0.35028	5.090000	0.47345	-0.060000	0.16637	0.043000	0.21118	1.000000	0.68203	0.001000	0.02609	0.9057:0.0:0.0943:0.0	8.127	0.30166	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000535	0.000000	0.000000	0.003268	0.000000	0.000000	0.000000	0.000000	0.1667	550.06	16	chr19	38193759	.	A	G	550.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.329;DP=125;ExcessHet=0.4139;FS=1.061;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.125;SOR=0.536	GT:AD:DP:GQ:PL	0/1:16,14:30:99:313,0,438	4	0	2	0
chr19	38410938	38410938	C	T	exonic	RASGRP4	.	nonsynonymous SNV	RASGRP4:NM_001146206:exon13:c.G1346A:p.R449H,RASGRP4:NM_001146207:exon14:c.G1622A:p.R541H,RASGRP4:NM_001146203:exon15:c.G1637A:p.R546H,RASGRP4:NM_001146202:exon16:c.G1871A:p.R624H,RASGRP4:NM_001146204:exon16:c.G1706A:p.R569H,RASGRP4:NM_001146205:exon16:c.G1811A:p.R604H,RASGRP4:NM_170604:exon16:c.G1913A:p.R638H	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0061	0.0183706	0.0170	0.0013	0.0105	0.1166	0.0034	0.0106	0.0108	0.0068	0.0097347	1505	154602	rs117355762	0.0092	0.0092	0.0094	0.0090	0.0721	0.0091	0.0090	0.0699	0.0690	0.0013	0.0068	0.0009	0.0721	0.0021	0.0050	0.0080	0.0125	0.0043	0.0086	0.0086	0.0083	0.0089	0.0803	0.0082	0.0080	0.0739	0.0714	0.0021	0	0.0108	0.0009	0.0803	0.0018	0.0034	0.0082	0.0095	0.0062	0.107	0.30235	T	0.055	0.49390	T	0.003	0.11197	B	0.002	0.06944	B	0.006313	0.01119	N	3.422580	1	0.08975	N	0.11	0.08516	N	-0.73	0.77719	T	-1.95	0.45222	N	0.155	0.22998	-0.9492	0.41109	T	0.021	0.09009	T	10	0.0014972389	0.00017	T	.	.	.	0.243	0.54921	.	.	.	.	0.2999865209114673	0.29911	0.348401072875	0.36710	0.198486149311	0.00414	T	0.024153	0.18307	T	-0.535956	0.00354	T	-0.480108	0.24434	T	0.0157937189292481	0.00368	T	0.825817	0.48860	T	0.06640329	0.14284	0.046340745	0.06438	0.06640329	0.14284	0.046340745	0.06438	-3.207	0.14629	T	.	.	0.073	0.06990	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.432299	0.18510	13.77	0.96550231822411814	0.30222	0.05640	0.11551	N	AEFBCI	0.133969	0.25382	N	-0.895464487222504	0.10950	0.5258662	-0.900162381250356	0.12090	0.6199015	0.996832537197091	0.35047	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.79	-3.22	0.04808	-0.507000	0.06434	-0.364000	0.09654	0.545000	0.25583	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.1151:0.3934:0.0:0.4915	6.668	0.22243	602	0.67834	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.010101	0.001359	0.002924	0.000000	0.000000	0.012195	0.003788	0.08333	847.83	34	chr19	38410938	.	C	T	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.142;DP=237;ExcessHet=0;FS=3.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.042;SOR=0.317	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	5	0	1	0
chr19	38905373	38905373	C	T	exonic	NFKBIB	.	nonsynonymous SNV	NFKBIB:NM_001243116:exon3:c.C199T:p.R67C,NFKBIB:NM_001369699:exon3:c.C457T:p.R153C,NFKBIB:NM_002503:exon3:c.C457T:p.R153C	.	427	1086	7	2	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00792533255063	0.0057	0.00199681	0.0054	0.0020	0.0024	0.0001	0.0006	0.0082	0.0035	0.0034	0.0054915	849	154602	rs201990071	0.0072	0.0072	0.0073	0.0071	0.0086	0.0071	0.0070	0.0085	0.0084	0.0010	0.0030	3.831e-05	0.0001	0.0015	0.0026	0.0086	0.0058	0.0036	0.0048	0.0048	0.0051	0.0044	0.0086	0.0045	0.0044	0.0081	0.0078	0.0013	0	0.0033	0	0.0002	0.0013	0.0034	0.0086	0.0043	0.0027	0.156	0.24090	T	0.163	0.33666	T	0.0	0.02946	B	0.0	0.01387	B	0.410372	0.13005	N	0.670270	1	0.08975	N	0.805	0.20218	L	0.8	0.59583	T	0.43	0.03297	N	0.186	0.20528	-1.0782	0.07701	T	0.047	0.20195	T	10	0.0037885904	0.00071	T	0.007925	0.21007	T	0.021	0.04004	.	.	0.31291088546	0.30898	0.45795172993525163	0.45713	0.427851054671	0.43120	0.294309914112	0.09555	T	0.004768	0.42235	T	-0.497833	0.00588	T	-0.479918	0.24455	T	0.00471026021418957	0.00050	T	.	.	.	0.04064636	0.05840	0.035131883	0.02707	0.04064636	0.05840	0.035131883	0.02707	-5.651	0.44522	T	.	.	0.073	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.608423	0.09770	6.535	0.94259048943309998	0.24538	0.04313	0.09865	N	AEFDBI	0.065662	0.12820	N	-1.44619014952615	0.02247	0.09900984	-1.48921808937713	0.02432	0.1118557	0.984704134519189	0.30761	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.36	-5.27	0.02551	-1.116000	0.03397	-2.466000	0.03719	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.0:0.3014:0.1411:0.5575	6.309	0.20362	636	0.64483	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.005102	0.002717	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	1835.83	142	chr19	38905373	.	C	T	1835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.49;DP=326;ExcessHet=0;FS=2.099;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.05;SOR=0.886	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.08333	704.83	33	chr19	38930489	.	G	A	704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=214;ExcessHet=0;FS=1.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.424;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1178	5	0	1	0
chr19	39173257	39173257	G	A	exonic	PAK4	.	nonsynonymous SNV	PAK4:NM_001014832:exon3:c.G544A:p.G182R,PAK4:NM_005884:exon4:c.G544A:p.G182R,PAK4:NM_001014831:exon5:c.G544A:p.G182R	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.242284229121	0.0002	0.000399361	0.0006	0	0	0	0.0013	0.0002	0	0.0020	0.0001811	28	154602	rs376102097	0.0001	0.0001	9.086e-05	0.0001	0.0011	9.943e-05	9.351e-05	0.0009	0.0009	3.015e-05	0.0001	0	0	0.0002	0	4.713e-05	0.0001	0.0011	0.0002	0.0002	7.712e-05	0.0002	0.0014	0.0001	8.717e-05	0.0007	0.0005	0.0002	0	0.0001	0	0.0002	9.416e-05	0	5.883e-05	0	0.0014	0.328	0.13219	T	0.244	0.24123	T	1.0	0.90584	D	0.999	0.92359	D	0.000038	0.55875	D	0.122244	1	0.81001	D	1.995	0.54099	M	-0.52	0.70717	T	-2.62	0.56301	D	0.449	0.50418	-0.3239	0.74313	T	0.449	0.78390	T	10	0.08051765	0.13077	T	0.242284	0.88753	D	0.386	0.70276	0.31	0.28289	0.764866947981	0.76272	0.26301525943541015	0.26214	0.573917383262	0.53435	0.869096398354	0.92439	D	0.659672	0.89771	D	-0.148421	0.28558	T	-0.0265059	0.68600	D	0.293306320905685	0.24728	T	0.914809	0.69637	D	0.30030245	0.52932	0.20507929	0.44660	0.30030245	0.52931	0.20507929	0.44659	-3.294	0.13660	T	.	.	0.38	0.58428	A	.;.;.	.;.;.	4.499932	0.70371	25.5	0.99746638791158748	0.83927	0.98214	0.80602	D	AEFDBI	0.844561	0.76151	D	0.470187450096887	0.65357	4.812342	0.406594588094812	0.61973	4.405476	0.999999879094452	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.23	4.23	0.49319	5.362000	0.65850	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.0:0.0:1.0:0.0	14.159	0.64968	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001526	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	444.83	36	chr19	39173257	.	G	A	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.297;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.448;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,22:47:99:455,0,557	5	0	1	0
chr19	39178466	39178466	C	G	exonic	PAK4	.	nonsynonymous SNV	PAK4:NM_001014834:exon8:c.C1204G:p.R402G,PAK4:NM_001014832:exon9:c.C1663G:p.R555G,PAK4:NM_001014835:exon9:c.C1204G:p.R402G,PAK4:NM_005884:exon10:c.C1663G:p.R555G,PAK4:NM_001014831:exon11:c.C1663G:p.R555G	.	396	1097	29	0	0	29	0.0130454	.	.	.	2808627	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.416	.	0.0019	0.00139776	0.0041	0.0015	0.0022	0	0	0.0058	0.0161	0.0020	0.0020892	323	154602	rs56084716	0.0024	0.0023	0.0023	0.0024	0.0273	0.0023	0.0023	0.0238	0.0225	0.0016	0.0013	0.0078	0	0.0003	0.0273	0.0023	0.0036	0.0016	0.0018	0.0018	0.0017	0.0019	0.0028	0.0016	0.0016	0.0025	0.0023	0.0003	0	0.0012	0.0081	0.0002	0.0002	0.0374	0.0028	0.0024	0.0017	0.001	0.78490	D	0.082	0.63918	T	0.997	0.77913	D	0.986	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	2.51	0.14284	T	-6.98	0.93582	D	0.875	0.87265	-1.0922	0.05175	T	0.088	0.34050	T	10	0.0460169	0.03741	T	.	.	.	0.416	0.72631	.	.	0.89292114535	0.89186	0.7209852910754635	0.72041	0.946704540343	0.72437	0.690650701523	0.65800	T	0.473956	0.80560	T	-0.119471	0.33210	T	0.0528755	0.73773	D	0.054424238772923	0.06261	T	0.981502	0.93758	D	0.8771812	0.89437	0.762887	0.85992	0.8771812	0.89438	0.762887	0.85993	-15.532	0.97390	D	.	.	0.757	0.84738	P	.;.;.;.;.;.	.;.;.;.;.;.	4.602756	0.72918	25.9	0.9977591660497318	0.86346	0.95957	0.66890	D	AEFDBI	0.804904	0.72964	D	0.474850045455552	0.65625	4.846203	0.372894169578595	0.59898	4.17184	0.999998390443871	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	3.712000	0.54603	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.2039:0.7961:0.0:0.0	9.866	0.40309	504	0.75712	Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.015152	0.021739	0.076023	0.050000	0.034483	0.012195	0.011364	0.08333	914.83	57	chr19	39178466	.	C	G	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.91;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.624;SOR=0.829	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	5	0	1	0
chr19	39381050	39381050	G	A	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384577:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384592:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384565:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384569:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384574:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384583:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384589:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384590:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384595:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384566:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384570:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384571:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384573:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384575:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384576:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384580:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384581:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384584:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384586:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384587:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384588:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384591:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384593:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384594:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384568:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384578:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384582:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384585:exon14:c.G1909A:p.V637M,SAMD4B:NM_018028:exon14:c.G1909A:p.V637M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0824074019219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.043	0.50514	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.04	0.26193	L	.	.	.	-1.73	0.41046	N	0.7	0.73555	-0.2717	0.75766	T	0.374	0.73272	T	9	0.5009675	0.61545	D	0.082407	0.73895	D	0.342	0.66392	0.13	0.03494	0.290620346082	0.28682	0.5598270749168788	0.55909	1.74582744126	0.90929	0.814671278	0.84209	D	0.112721	0.52221	T	0.46491	0.93134	D	0.430035	0.93049	D	0.911869645118713	0.56757	D	0.970603	0.89432	D	0.29694796	0.52629	0.34793273	0.60440	0.29694796	0.52629	0.34793273	0.60440	-5.319	0.40131	T	.	.	0.895	0.82415	P	.;.;.	.;.;.	5.199523	0.87222	29.2	0.99901133006874532	0.97275	0.98796	0.86965	D	AEFDBI	0.919288	0.88960	D	0.748928627210562	0.82833	7.861886	0.730471359961055	0.84693	8.363473	0.99999999998772	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	9.602000	0.97623	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.259	0.73304	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1179.83	40	chr19	39381050	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.832;DP=262;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.051;SOR=0.83	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.08333	1587.83	47	chr19	39734391	.	G	C	1587.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.891;DP=412;ExcessHet=0;FS=5.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.144;SOR=0.739	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	5	0	1	0
chr19	39785830	39785830	G	A	exonic	LEUTX	.	nonsynonymous SNV	LEUTX:NM_001143832:exon3:c.G202A:p.A68T,LEUTX:NM_001382345:exon3:c.G292A:p.A98T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00835715253016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.449e-06	0.0004	2.4e-07	9e-08	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.0	0.92824	D	0.59	0.39078	P	0.078	0.28627	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-1.76	0.83578	D	0.07	0.06138	N	0.078	0.05287	-0.8697	0.50552	T	0.189	0.54064	T	9	0.10056299	0.18321	T	0.008357	0.22130	T	0.160	0.41473	0.173	0.07894	0.238096912614	0.23440	0.06037249050783251	0.05977	.	.	0.226923644543	0.01748	T	0.007005	0.06432	T	-0.158716	0.26957	T	-0.465761	0.25973	T	0.119533367792517	0.14384	T	.	.	.	0.025153117	0.01421	0.050159402	0.07814	0.025153117	0.01421	0.050159402	0.07814	.	.	.	.	.	0.077	0.06250	B	.;.	.;.	-0.073427	0.03801	0.805	0.99036475114184386	0.50917	0.00842	0.03373	N	AEFBI	0.018852	0.00605	N	-1.05896281763831	0.07412	0.3442785	-1.18013446192634	0.06242	0.2998564	1.47376749906807E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.66	-1.38	0.08554	-0.064000	0.11593	.	.	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1739:0.2264:0.3692:0.2305	0.750	0.00926	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1708.83	37	chr19	39785830	.	G	A	1708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.081;DP=299;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.158;SOR=1.011	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	5	0	1	0
chr19	39827325	39827325	C	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon8:c.G1055C:p.G352A,DYRK1B:NM_006483:exon8:c.G1055C:p.G352A,DYRK1B:NM_006484:exon8:c.G1055C:p.G352A	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	406	1114	2	0	0	2	0.000896861	.	.	.	2862204	not_provided|DYRK1B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.056	0.00864740264069	0.0002	0.000199681	0.0007	0.0001	0	0	0	0.0004	0	0.0033	0.0005433	84	154602	rs148897290	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0027	0.0026	0	8.947e-05	0.0007	0	0	0.0019	0.0002	0.0004	0.0030	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.814e-05	0	0.0003	0.0009	0	0	0	0.0003	0.0005	0.0010	0.413	0.24468	T	0.341	0.27325	T	0.001	0.07471	B	0.008	0.13708	B	0.000611	0.42945	N	0.173108	0.965933	0.43157	D	0.46	0.12951	N	2.16	0.19166	T	-0.76	0.26843	N	0.374	0.47395	-1.0580	0.12260	T	0.025	0.10688	T	10	0.0104088485	0.00232	T	0.008647	0.22854	T	0.056	0.15993	.	.	0.449605256025	0.44583	0.31947417343014956	0.31860	0.524042863471	0.50107	0.608413279057	0.54092	T	0.088402	0.38150	T	-0.506354	0.00527	T	-0.503797	0.21955	T	0.0223959836431199	0.00953	T	.	.	.	0.12905967	0.30154	0.08793635	0.20471	0.13861254	0.32050	0.06475439	0.13026	-5.15	0.43309	T	.	.	0.088	0.12132	B	.;.;.;.;.	.;.;.;.;.	3.770362	0.54150	23.5	0.94538681379651179	0.25043	0.96546	0.69681	D	AEFDBI	0.732991	0.67957	D	-0.229682746119469	0.31920	1.794836	-0.0399613870732812	0.37927	2.227435	0.999997211247522	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.43	3.39	0.37919	3.789000	0.55159	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7788:0.0:0.2212	5.946	0.18458	647	0.63344	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	526.83	34	chr19	39827325	.	C	G	526.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.151;SOR=0.756	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1248	5	0	1	0
chr19	39830443	39830443	G	A	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon4:c.C304T:p.R102C,DYRK1B:NM_006483:exon4:c.C304T:p.R102C,DYRK1B:NM_006484:exon4:c.C304T:p.R102C	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	419	1101	2	0	0	2	0.000907441	.	.	YES	136541	not_provided|Abdominal_obesity-metabolic_syndrome_3	MedGen:C3661900|MONDO:MONDO:0014352,MedGen:C4014361,OMIM:615812	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.690	0.0400236773592	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs367643250	1.437e-05	1.436e-05	9.529e-06	1.925e-05	2.236e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0	1.709e-05	0	1.159e-05	6.569e-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	0.114	0.29158	T	0.001	0.83351	D	0.997	0.73220	D	0.696	0.60170	P	0.000049	0.53742	D	0.072440	0.999936	0.51612	D	1.83	0.48079	L	2.02	0.21119	T	-5.6	0.87380	D	0.899	0.89912	-1.1083	0.03219	T	0.083	0.32440	T	10	0.79784906	0.79232	D	0.040024	0.59144	D	0.690	0.88726	.	.	0.56167646926	0.55829	0.5384054871733418	0.53765	1.30891436969	0.83166	0.703474402428	0.67647	T	0.449922	0.79123	T	-0.119689	0.33176	T	-0.346056	0.39656	T	0.973750233650208	0.70225	D	.	.	.	0.22475982	0.45124	0.19818829	0.43639	0.14019102	0.32354	0.17274271	0.39550	-6.864	0.53033	T	.	.	0.226	0.54732	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.354626	0.95070	34	0.99879226391330078	0.95572	0.84537	0.43619	D	AEFBI	0.369762	0.45638	N	0.513286440524933	0.67875	5.140339	0.499484559615767	0.67957	5.15405	0.999858566858047	0.44174	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	4.720000	0.61636	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.7965:0.2035	9.931	0.40690	642	0.63909	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1266.83	113	chr19	39830443	.	G	A	1266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.466;DP=297;ExcessHet=0;FS=1.493;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.671;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	5	0	1	0
chr19	39873643	39873643	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon24:c.G10756A:p.V3586I	.	428	1089	4	1	0	6	0.00274725	.	.	.	2397313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.038535371792	.	.	8.316e-05	0	0	0	0	9.104e-05	0	0.0002	7.12e-05	11	154602	rs200368344	8.311e-05	7.182e-05	7.505e-05	9.131e-05	0.0004	6.952e-05	6.484e-05	7.926e-05	6.788e-05	0	2.682e-05	0	0	0	0.0004	8.91e-05	0.0001	9.612e-05	5.912e-05	5.91e-05	6.422e-05	5.377e-05	0.0002	3.076e-05	2.209e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2680.83	43	chr19	39873643	.	C	T	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=399;ExcessHet=0;FS=3.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.227;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	5	0	1	0
chr19	39878179	39878179	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon21:c.G8926A:p.A2976T	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00125716582037	.	0.00139776	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs200976557	6.682e-05	0.0004	6.706e-05	6.658e-05	0.0016	5.478e-05	5.01e-05	0.0012	0.0011	0.0005	0.0016	0	0.0002	0	0	3.145e-06	9.132e-05	1.203e-05	0.0011	0.0040	0.0009	0.0012	0.0093	0.0009	0.0009	0.0080	0.0075	0.0005	0	0.0093	0	0.0002	0	0	2.94e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	256.83	442	chr19	39878179	.	C	T	256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.314;DP=651;ExcessHet=0;FS=2.982;MLEAC=1;MLEAF=0.083;MQ=54.61;MQRankSum=-12.32;QD=0.58;ReadPosRankSum=0.101;SOR=1.059	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	5	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.83	70	chr19	39886548	.	G	A	99.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.391;DP=372;ExcessHet=0;FS=2.89;MLEAC=1;MLEAF=0.083;MQ=32.17;MQRankSum=0.488;QD=1.45;ReadPosRankSum=0.454;SOR=0.145	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chr19	39902311	39902311	T	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon9:c.A4517G:p.H1506R	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.00523230134847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450354748	8.314e-07	6.842e-07	1.649e-06	0	1.06e-06	0	0	.	.	0	0	0	0	0	0	1.06e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	0.037056	0.24448	N	0.413124	0.999743	0.20516	N	.	.	.	.	.	.	.	.	.	.	.	-0.5443	0.67001	T	0.451	0.78491	T	10	0.34752682	0.51685	T	0.00593	0.15460	T	.	.	.	.	0.402043589563	0.39814	.	.	.	.	0.600498318672	0.52974	T	0.025075	0.18822	T	-0.0441584	0.45330	T	-0.301207	0.44598	T	0.55669516052353	0.34730	D	0.69743	0.30707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32153	B	.	.	3.433101	0.47720	22.5	0.9592308261777267	0.28192	0.41978	0.26776	N	AEFI	0.586246	0.58436	D	0.0417734361192832	0.43765	2.663057	-0.100614187665997	0.35365	2.045217	8.09746487323884E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.66	2.66	0.30672	6.221000	0.72188	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.0:1.0	9.973	0.40936	754	0.51307	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4209.06	93	chr19	39902311	.	T	C	4209.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.326;DP=493;ExcessHet=0.4139;FS=0.45;MLEAC=2;MLEAF=0.167;MQ=43.39;MQRankSum=3.94;QD=14.98;ReadPosRankSum=1.03;SOR=0.66	GT:AD:DP:GQ:PL	0/1:17,90:107:99:2352,0,346	4	0	2	0
chr19	40570649	40570649	C	G	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon33:c.C7240G:p.P2414A	.	422	1089	10	1	0	12	0.00547945	.	.	.	1238397	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	.	0.0123802	0.0266	0	0.0021	0.0006	0	0	0.0211	0.0806	0.005692	880	154602	rs370564309	0.0029	0.0029	0.0015	0.0042	0.0479	0.0028	0.0027	0.0466	0.0461	0.0001	6.444e-05	0	9.705e-05	0	0.0026	1.866e-05	0.0030	0.0479	0.0018	0.0018	0.0010	0.0027	0.0553	0.0016	0.0016	0.0498	0.0477	7.215e-05	0	0.0001	0	0.0002	0	0	2.942e-05	0.0014	0.0553	0.506	0.07594	T	0.161	0.31326	T	0.948	0.53620	P	0.428	0.45338	B	0.000018	0.62929	U	0.000000	0.940361	0.37295	D	2.015	0.55033	M	1.62	0.28189	T	-2.05	0.47008	N	0.353	0.40063	-1.0504	0.14285	T	0.065	0.26807	T	10	0.0021221638	0.00030	T	.	.	.	0.062	0.17934	0.197	0.10975	0.511735687887	0.50815	0.41942925782414403	0.41858	.	.	0.795201599598	0.81233	T	0.021368	0.52628	T	-0.498772	0.00581	T	-0.451243	0.27561	T	0.112559668653959	0.13688	T	0.668433	0.27736	T	0.20288366	0.42348	0.2552489	0.51205	0.2071935	0.42917	0.2552489	0.51204	-4.077	0.24950	T	.	.	0.092	0.19919	B	.;.;.;.	.;.;.;.	3.440752	0.47869	22.5	0.99093410635369361	0.52272	0.70368	0.34562	D	ALL	0.271846	0.38761	N	0.172267448461034	0.49869	3.182748	0.208348261760268	0.50309	3.224414	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.64	4.64	0.57399	1.761000	0.38070	.	.	0.467000	0.21759	0.008000	0.17931	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.033	0.71385	744	0.52588	.;.;.;.	.	.	.	.	.	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	0.004702	0.005155	0.000000	0.003521	0.000000	0.000000	0.003106	0.019084	0.08333	761.83	37	chr19	40570649	.	C	G	761.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=247;ExcessHet=0;FS=3.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.661;SOR=1.22	GT:AD:DP:GQ:PL	0/1:35,29:64:99:772,0,862	5	0	1	0
chr19	40625985	40625985	G	A	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon27:c.G3961A:p.A1321T,LTBP4:NM_001042544:exon30:c.G4162A:p.A1388T,LTBP4:NM_003573:exon30:c.G4051A:p.A1351T	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1385833	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.695	0.225420138384	7.7e-05	0.000399361	0.0003	0.0002	0.0001	0	0	6.985e-05	0	0.0017	0.0001811	28	154602	rs377003640	9.558e-05	9.713e-05	5.743e-05	0.0001	0.0011	8.244e-05	7.757e-05	0.0010	0.0009	9.025e-05	6.823e-05	0	0	0	0	2.795e-05	8.313e-05	0.0011	7.881e-05	7.874e-05	8.996e-05	6.715e-05	0.0008	4.494e-05	3.51e-05	0.0003	0.0002	7.223e-05	0	0	0	0.0002	0	0	5.882e-05	0	0.0008	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.004451	0.33730	U	0.000000	0.999997	0.58761	D	.	.	.	-3.04	0.92357	D	.	.	.	0.588	0.64393	0.691	0.93060	D	0.841	0.94680	D	9	0.23597464	0.40670	T	0.22542	0.87996	D	0.695	0.88960	.	.	0.703329360458	0.70075	0.6117829432683232	0.61110	1.08710828371	0.77320	0.828609228134	0.86350	D	0.20407	0.87993	T	-0.0902249	0.38040	T	0.0622435	0.74395	D	0.360484707151125	0.27428	T	0.966103	0.91204	D	0.10871984	0.25705	0.1883594	0.42122	0.10871984	0.25705	0.1883594	0.42121	-11.493	0.82293	D	.	.	0.422	0.65590	A	.;.;.;.	.;.;.;.	5.314676	0.89214	29.9	0.99924535216141486	0.98980	0.98726	0.86069	D	AEFBHCI	0.937889	0.93630	D	0.619120588373263	0.74384	6.123711	0.58890824175468	0.74143	6.087159	0.999999999999969	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	7.997000	0.87980	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:0.0:1.0:0.0	16.051	0.80567	749	0.51929	TB domain|TB domain;TB domain|TB domain;.;TB domain|TB 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	.	.	.	.	.	.	.	.	0.08333	581.83	35	chr19	40625985	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.123;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.31;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	5	0	1	0
chr19	40749650	40749650	C	T	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.G154A:p.V52I,C19orf54:NM_001353809:exon1:c.G154A:p.V52I,C19orf54:NM_198476:exon1:c.G154A:p.V52I	.	411	1109	1	1	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138887945274	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs574368351	5.729e-05	5.746e-05	3.251e-05	8.274e-05	0.0009	4.686e-05	4.341e-05	0.0007	0.0007	0	0	0	0	0	0.0002	9.276e-07	0.0001	0.0009	4.601e-05	4.594e-05	3.858e-05	5.378e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0003	0	0	6.549e-05	0	0.0002	0	0	0	0	0.0010	0.368	0.11623	T	0.526	0.10245	T	0.0	0.02946	B	0.001	0.04355	B	0.574893	0.05501	U	1.519900	1	0.08975	N	0	0.06538	N	.	.	.	0.01	0.06868	N	0.083	0.05929	-1.0477	0.15045	T	0.034	0.14509	T	9	0.009570807	0.00216	T	0.001389	0.02037	T	0.010	0.01040	0.175	0.08135	0.0482279557977	0.04254	0.07417781484695436	0.07354	0.0562866214624	0.06214	.	.	.	0.007635	0.07033	T	-0.607769	0.00131	T	-0.723782	0.04615	T	0.129435330629349	0.15329	T	0.40486	0.10377	T	0.026546594	0.01725	0.029107414	0.01212	0.026546594	0.01725	0.029107414	0.01212	-4.413	0.29733	T	.	.	0.074	0.05103	B	.	.	-2.154005	0.00071	0.001	0.7657953055067982	0.11525	0.01623	0.05242	N	AEFDGBHCI	0.036984	0.05014	N	-1.81659526096597	0.00506	0.02176865	-1.92844928015746	0.00430	0.01900898	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.444512	0.06955	0	.	.	4.59	-9.19	0.00583	-4.167000	0.00320	.	.	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1937:0.1367:0.0962:0.5734	3.939	0.08817	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	822.83	92	chr19	40749650	.	C	T	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.573;DP=288;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=-1.823;SOR=0.683	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1405	5	0	1	0
chr19	40880242	40880242	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon3:c.G343A:p.A115T,CYP2A7:NM_000764:exon4:c.G496A:p.A166T	.	3	1500	18	1	0	20	0.00662252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0002	0.00379393	0.0021	0	0.0002	0	0	0.0004	0	0.0137	0.0017852	276	154602	rs143990356	0.0008	0.0008	0.0006	0.0011	0.0115	0.0008	0.0008	0.0109	0.0107	2.987e-05	4.475e-05	0	2.519e-05	0	0.0023	0.0001	0.0013	0.0115	0.0004	0.0004	0.0002	0.0006	0.0113	0.0003	0.0003	0.0089	0.0080	0	0	6.597e-05	0	0.0004	0	0	0.0001	0.0005	0.0113	0.14	0.27194	T	0.455	0.14158	T	0.053	0.25827	B	0.015	0.19346	B	0.945117	0.07619	U	1.028510	1	0.08975	N	1.39	0.34934	L	-0.38	0.69027	T	-0.62	0.23808	N	0.128	0.22228	-0.9832	0.34258	T	0.141	0.46016	T	10	0.003222108	0.00055	T	.	.	.	0.030	0.07022	.	.	0.485493271093	0.48183	0.3520254561427944	0.35116	0.0759756441061	0.08528	0.340956419706	0.16581	T	0.001625	0.01056	T	-0.489711	0.00652	T	-0.465182	0.26036	T	0.0125051458302619	0.00207	T	0.182482	0.12115	T	0.095246956	0.22411	0.11503972	0.27771	0.095246956	0.22410	0.11503972	0.27770	-5.057	0.37452	T	.	.	0.068	0.03925	B	.;.	.;.	1.153011	0.15411	11.83	0.96705737958072191	0.30792	0.01496	0.04962	N	AEFBI	0.108277	0.21546	N	-1.08440412834534	0.06930	0.3204331	-1.14025757527891	0.06943	0.3360026	5.09753424684015E-4	0.07176	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	2.2	1.11	0.19640	-0.466000	0.06749	.	.	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.8373:0.0:0.1627	6.288	0.20249	561	0.71236	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002643	0.000000	0.001359	0.004098	0.000000	0.008621	0.003049	0.007576	0.08333	1405.83	93	chr19	40880242	.	C	T	1405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.67;MQRankSum=0.6;QD=15.12;ReadPosRankSum=-2.055;SOR=0.671	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	0	1	0
chr19	41120470	41120470	T	C	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon4:c.T458C:p.L153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814	0.085359229786	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs752594770	2.053e-06	2.052e-06	2.724e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	0	0.0002	0	0	1.16e-05	6.58e-06	6.57e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000312	0.45977	U	0.088341	1	0.81001	D	3.9	0.96120	H	-0.96	0.75553	T	-6.32	0.90852	D	0.855	0.85132	0.517	0.90788	D	0.657	0.88061	D	10	0.985896	0.98869	D	0.085359	0.74517	D	0.814	0.94008	0.896	0.97596	0.933915187719	0.93323	0.9256230973078096	0.92539	1.37689337224	0.84690	0.714072942734	0.69184	T	0.135735	0.46771	T	0.285671	0.81796	D	0.273	0.86749	D	0.999009966850281	0.95858	D	0.815218	0.46991	T	0.98904306	0.99713	0.95826966	0.98878	0.98904306	0.99713	0.95826966	0.98878	-13.947	0.92883	D	.	.	0.746	0.74879	P	.	.	4.329653	0.66332	24.9	0.99900787521431156	0.97275	0.98783	0.86796	D	AEFDBI	0.945730	0.95437	D	0.783129906321707	0.85040	8.459003	0.649343368416576	0.78564	6.901239	0.998608017692533	0.37289	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	7.709000	0.83610	4.595000	0.43974	0.508000	0.23123	0.980000	0.35271	0.936000	0.28664	0.015000	0.10482	0.0:0.0:0.0:1.0	12.322	0.54310	697	0.58201	.	.	.	.	.	.	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	1598.83	33	chr19	41120470	.	T	C	1598.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.741;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	5	0	1	0
chr19	41121961	41121961	A	G	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon6:c.A650G:p.Y217C	.	.	.	.	.	.	.	.	.	.	.	2248816	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0724173823756	.	.	0.0001	0.0002	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs752564525	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	2.236e-05	3.828e-05	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.284e-05	0	6.618e-05	0	0	0	0	0.0004	0	0	0.313	0.13879	T	0.158	0.31629	T	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	U	0.000000	0.998243	0.44674	D	1.92	0.51302	L	-0.4	0.69287	T	-4.35	0.76900	D	0.635	0.64818	-0.7110	0.59903	T	0.277	0.64855	T	10	0.8580525	0.85011	D	0.072417	0.71527	D	0.458	0.75619	.	.	0.807811565839	0.80600	0.5061773142423096	0.50539	1.19649967505	0.80419	0.652720451355	0.60372	T	0.030391	0.21555	T	-0.156256	0.27338	T	-0.163291	0.58055	T	0.326333224773407	0.26076	T	0.549145	0.18877	T	0.46432424	0.64940	0.39757454	0.64369	0.46432424	0.64941	0.39757454	0.64369	-5.916	0.45571	T	.	.	0.201	0.42491	B	.	.	2.788871	0.36656	20.3	0.92665573178522587	0.22147	0.83069	0.42218	D	AEFDGBI	0.389655	0.46879	N	-0.258006400444776	0.30784	1.719813	-0.361008467641228	0.26170	1.44379	0.0219318466831119	0.13390	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.21	2.14	0.26518	3.654000	0.54193	3.258000	0.37072	-0.647000	0.04405	0.999000	0.42656	0.544000	0.25431	0.170000	0.20979	0.5543:0.2263:0.0:0.2194	3.772	0.08168	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2166.83	123	chr19	41121961	.	A	G	2166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.7;MQRankSum=-2.157;QD=17.62;ReadPosRankSum=0.234;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1202:.	5	0	1	0
chr19	41121962	41121962	C	A	exonic	CYP2F1	.	stopgain	CYP2F1:NM_000774:exon6:c.C651A:p.Y217X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs147516459	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	2.236e-05	3.828e-05	0	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.269e-05	0	6.612e-05	0	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.739	0.73916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310651	0.83794	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.377793	0.95110	34	0.99253697625906023	0.56957	0.71679	0.35117	D	AEFDGBI	0.184136	0.31146	N	0.108106606197432	0.46841	2.918362	-0.180914930243559	0.32238	1.832175	0.0179509349549075	0.13006	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.04	1.98	0.25351	1.135000	0.31067	-0.154000	0.11389	0.262000	0.18416	0.729000	0.28913	0.005000	0.19230	0.174000	0.21107	0.0:0.6226:0.2375:0.1398	4.296	0.10348	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2166.83	123	chr19	41121962	.	C	A	2166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.44;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54;MQRankSum=-2.157;QD=17.62;ReadPosRankSum=0.588;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1202:.	5	0	1	0
chr19	41201366	41201366	G	A	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.G970A:p.V324I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00299144910749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.15613	T	0.645	0.32040	T	0.016	0.17332	B	0.056	0.26147	B	0.002913	0.35737	N	0.218297	0.999519	0.21065	N	0.24	0.09707	N	-0.51	0.70597	T	-0.44	0.14588	N	0.118	0.10769	-1.0553	0.12961	T	0.149	0.47593	T	10	0.120156825	0.22754	T	0.002991	0.06398	T	0.071	0.20720	0.689	0.82653	0.198526703765	0.19489	0.5991679320640718	0.59847	0.336124763175	0.35611	0.444583952427	0.31203	T	0.004039	0.08629	T	-0.106639	0.35323	T	-0.390956	0.34440	T	0.126980245113373	0.15100	T	0.568443	0.23656	T	0.05020537	0.09035	0.04346024	0.05411	0.05020537	0.09035	0.04346024	0.05411	-4.567	0.31754	T	.	.	0.088	0.17275	B	.;.	.;.	2.144684	0.27310	17.42	0.97859255854444449	0.36452	0.26169	0.22915	N	AEFBI	0.060685	0.11551	N	-0.60571539057044	0.18771	0.9772639	-0.522708684875871	0.21537	1.165564	0.00592183462212344	0.11080	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.2	1.72	0.23498	0.604000	0.23862	5.480000	0.48720	0.614000	0.49286	0.075000	0.22209	1.000000	0.68203	0.985000	0.61073	0.2716:0.0:0.546:0.1823	3.473	0.07140	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1130.83	34	chr19	41201366	.	G	A	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.872;DP=263;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.935;SOR=0.395	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	5	0	1	0
chr19	41809979	41809979	G	A	exonic	CEACAM3	.	nonsynonymous SNV	CEACAM3:NM_001815:exon4:c.G557A:p.R186H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000904760843884	0.0003	.	0.0003	9.992e-05	0	0.0001	0	0.0005	0	0	0.0002393	37	154602	rs200503121	0.0002	0.0002	0.0002	0.0002	6.71e-05	0.0002	0.0002	3.373e-05	3.039e-05	5.974e-05	6.71e-05	0.0086	2.519e-05	0	0	4.407e-05	0.0006	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	3.764e-05	2.576e-05	7.245e-05	0	6.551e-05	0.0089	0.0002	0	0	8.825e-05	0	0	0.168	0.23007	T	0.368	0.16570	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.65	0.16133	N	4.89	0.01430	T	0.54	0.02764	N	0.058	0.02964	-0.9218	0.45307	T	0.003	0.00832	T	9	0.0039978325	0.00077	T	9.05E-4	0.00844	T	0.014	0.01968	.	.	0.132336055621	0.12781	0.11250088237903323	0.11179	0.116934388882	0.13187	0.263997375965	0.05376	T	0.003673	0.03081	T	-0.594209	0.00158	T	-0.865615	0.00785	T	0.0146860286802308	0.00305	T	0.50185	0.15733	T	0.017889794	0.00313	0.028667724	0.01125	0.017889794	0.00312	0.028667724	0.01124	-6.766	0.52306	T	.	.	0.079	0.07272	B	.	.	-0.343898	0.02430	0.275	0.68482300399570317	0.08672	0.00040	0.00335	N	AEFBI	0.022455	0.01124	N	-1.86179266584605	0.00411	0.01766537	-1.95169444900417	0.00386	0.0170453	0.998941214373891	0.38034	0.487112	0.14033	0	0.586423	0.34054	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.0	-4.0	0.03787	-2.517000	0.01030	-8.843000	0.00905	-0.904000	0.02305	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2339:0.3513:0.4149:0.0	5.071	0.13940	460	0.78750	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3706.83	39	chr19	41809979	.	G	A	3706.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=589;ExcessHet=0;FS=2.473;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.148;SOR=0.561	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	5	0	1	0
chr19	41912895	41912895	G	T	exonic	ERFL	.	nonsynonymous SNV	ERFL:NM_001365103:exon2:c.C25A:p.L9I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22903585	0.39822	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19357	B	.	.	4.447358	0.69097	25.3	0.95611971507018989	0.27366	0.71671	0.35114	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.725481214827727	0.22982	0.166803	0.03914	0	0.067947	0.01809	2	0.182457	0.04408	0	0.109499	0.03221	0	0.357734	0.36409	2.28	2.28	0.27583	3.866000	0.55752	9.687000	0.81262	0.512000	0.23348	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7192:0.2808	6.712	0.22473	654	0.62520	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	36.57	1	chr19	41912895	.	G	T	36.57	.	AC=2;AF=0.2;AN=10;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;QD=18.28;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	1
chr19	42224406	42224406	G	A	exonic	ZNF526	.	startloss	ZNF526:NM_001314033:exon3:c.G3A:p.M1?,ZNF526:NM_133444:exon3:c.G3A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0134672778707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.039	0.21116	B	0.012	0.16012	B	0.831453	0.09103	N	0.894418	0.995454	0.23286	N	.	.	.	3.09	0.08371	T	-0.82	0.22508	N	0.704	0.70790	-1.0486	0.14790	T	0.019	0.08126	T	9	0.49182174	0.61037	T	0.013467	0.32898	T	0.189	0.46613	0.643	0.78010	0.39724302092	0.39341	0.22546606895603138	0.22461	.	.	.	.	.	0.018651	0.33552	T	0.113594	0.65723	D	-0.0746067	0.65296	T	0.972448170185089	0.69702	D	0.9	0.65058	D	0.7825298	0.82809	0.598441	0.76678	0.7825298	0.82811	0.598441	0.76679	-10.855	0.78856	D	.	.	.	.	.	.;.	.;.	3.868501	0.56145	23.7	0.99622295262224159	0.75473	0.95941	0.66818	D	AEFBCI	0.021622	0.00984	N	-0.0226314266327737	0.40833	2.431739	0.102378349710708	0.44671	2.744263	0.999991019725257	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.81	3.81	0.43020	3.994000	0.56707	8.680000	0.78040	0.662000	0.56354	0.993000	0.37899	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	11.486	0.49600	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1361.83	34	chr19	42224406	.	G	A	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.172;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.611;SOR=0.846	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1447	5	0	1	0
chr19	42249729	42249729	A	C	exonic	ERF	.	nonsynonymous SNV	ERF:NM_001301035:exon4:c.T158G:p.V53G,ERF:NM_001308402:exon4:c.T158G:p.V53G,ERF:NM_001312656:exon4:c.T158G:p.V53G,ERF:NM_006494:exon4:c.T383G:p.V128G	Chitayat syndrome, Autosomal dominant;Craniosynostosis 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	679667	Inborn_genetic_diseases|Craniosynostosis_syndrome	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0479306554676	.	.	6.036e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs781452659	2.965e-05	2.941e-05	1.781e-05	4.165e-05	0.0005	2.234e-05	1.985e-05	0.0004	0.0003	0	0	0	0	0	0.0004	0	1.669e-05	0.0005	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.621	0.51426	P	0.017066	0.27816	N	0.325909	1	0.81001	D	2.02	0.55341	M	0.48	0.55945	T	-2.64	0.62630	D	0.441	0.56489	-0.7700	0.56857	T	0.180	0.52736	T	10	0.27994004	0.45568	T	0.047931	0.63147	D	0.282	0.59981	0.414	0.45216	0.498282089621	0.49464	0.6296733072706407	0.62901	1.55285992361	0.87930	0.593680799007	0.52013	T	0.696458	0.91221	D	-0.103252	0.35885	T	-0.092604	0.63965	T	0.459747018543215	0.31156	T	0.909809	0.68064	D	0.52291423	0.68427	0.37089854	0.62330	0.52291423	0.68428	0.37089854	0.62330	-1.13	0.01155	T	0.5640658994147699	0.63163	0.581	0.68086	P	.;.;.	.;.;.	4.886562	0.80184	27.3	0.99662676109903237	0.78074	0.99318	0.94422	D	AEFDBHCI	0.943026	0.94834	D	0.543604280442607	0.69691	5.393433	0.558827081192153	0.72015	5.743503	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	2.793000	0.47537	11.029000	0.85041	0.740000	0.86194	0.854000	0.30511	1.000000	0.68203	0.899000	0.43558	1.0:0.0:0.0:0.0	12.472	0.55132	769	0.49307	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1668.83	41	chr19	42249729	.	A	C	1668.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.389;DP=333;ExcessHet=0;FS=8.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.858;SOR=0.292	GT:AD:DP:GQ:PL	0/1:76,65:141:99:1679,0,2071	5	0	1	0
chr19	42313420	42313420	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C44T:p.P15L,TMEM145:NM_173633:exon1:c.C44T:p.P15L	.	355	1134	32	1	0	34	0.0147698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0025	0.00399361	0.0343	0	0	0	.	0.0249	0	0.0434	0.001313	203	154602	rs185966365	0.0050	0.0048	0.0049	0.0051	0.0186	0.0049	0.0049	0.0149	0.0140	0.0011	0.0020	0.0046	0	0.0076	0.0186	0.0046	0.0049	0.0152	0.0041	0.0041	0.0038	0.0044	0.0149	0.0038	0.0037	0.0121	0.0111	0.0013	0	0.0023	0.0032	0	0.0069	0.0171	0.0054	0.0038	0.0149	0.279	0.15561	T	0.126	0.35710	T	0.983	0.60381	D	0.726	0.55126	P	0.259431	0.15345	U	0.503609	0.99268	0.41714	D	1.39	0.34934	L	1.06	0.40469	T	0.5	0.02945	N	0.268	0.33578	-1.1348	0.01566	T	0.054	0.22770	T	10	0.006735027	0.00153	T	.	.	.	0.148	0.39182	.	.	0.558188439259	0.55478	0.29007636121236113	0.28920	0.512096811149	0.49265	0.884096682072	0.94505	D	0.006043	0.05478	T	-0.446652	0.01182	T	-0.402037	0.33148	T	0.0519023033639907	0.05831	T	0.727127	0.34152	T	0.09535335	0.22439	0.0749732	0.16457	0.09535335	0.22438	0.0749732	0.16457	-4.193	0.26650	T	.	.	0.114	0.22825	B	.;.	.;.	2.105866	0.26793	17.24	0.98485797629163652	0.42037	0.22804	0.21868	N	ALL	0.099040	0.19944	N	-0.0501813097093484	0.39595	2.337449	-0.0263752501979248	0.38528	2.27117	0.999999999996277	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	0.830000	0.27115	0.743000	0.21176	0.444000	0.21144	0.005000	0.17040	0.996000	0.32793	0.951000	0.49849	0.0:1.0:0.0:0.0	9.887	0.40439	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022005	0.006667	0.010989	0.005682	0.000000	0.000000	0.056250	0.046296	0.08333	404.83	36	chr19	42313420	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.301;SOR=0.735	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,780	5	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.08333	1836.83	44	chr19	42754576	.	G	A	1836.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=302;ExcessHet=0;FS=2.944;MLEAC=1;MLEAF=0.083;MQ=51.01;MQRankSum=-0.404;QD=16.4;ReadPosRankSum=0.376;SOR=1.129	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1378	5	0	1	0
chr19	42764036	42764036	T	C	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130167:exon2:c.A310G:p.N104D,PSG8:NM_182707:exon2:c.A310G:p.N104D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000487092193153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.069	0.44302	T	0.996	0.68779	D	0.988	0.77976	D	.	.	.	.	1	0.19072	N	2.06	0.56677	M	4.7	0.01673	T	-3.86	0.75615	D	0.345	0.38643	-1.0284	0.20973	T	0.019	0.07800	T	9	0.72880024	0.74156	D	4.87E-4	0.00143	T	0.046	0.12618	0.85	0.95202	0.126345400529	0.12197	0.09227949537311145	0.09159	0.0345443991487	0.03633	0.511173129082	0.40387	T	0.031005	0.21841	T	-0.255078	0.13483	T	-0.604178	0.12462	T	0.864223062992096	0.51441	D	0.825917	0.48908	T	0.539289	0.69356	0.65882903	0.80016	0.539289	0.69358	0.65882903	0.80017	-7.488	0.57526	T	.	.	0.145	0.32005	B	.;.;.	.;.;.	1.652791	0.21087	15.04	0.99404878082574011	0.62981	0.01166	0.04198	N	AEFI	0.047718	0.08064	N	-0.224773157259852	0.32120	1.808055	-0.52074439761036	0.21590	1.16868	0.00426328684154434	0.10480	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.35	1.35	0.21078	0.171000	0.16497	-1.295000	0.05789	0.361000	0.20101	0.010000	0.18352	0.000000	0.08366	0.047000	0.14932	0.0:0.0:0.0:1.0	4.884	0.13051	410	0.82135	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	4338.83	35	chr19	42764036	.	T	C	4338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=576;ExcessHet=0;FS=6.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.125;SOR=0.995	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	5	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y,PSG6:NM_002782:exon2:c.C364T:p.H122Y	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010440	0.000000	0.009511	0.008333	0.000000	0.017241	0.022581	0.003968	0.08333	4889.83	35	chr19	42916188	.	G	A	4889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.666;DP=1237;ExcessHet=0;FS=1.76;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.943;QD=12.04;ReadPosRankSum=1.12;SOR=0.836	GT:AD:DP:GQ:PL	0/0:291,0:291:99:0,120,1800	5	0	1	0
chr19	43497792	43497792	G	A	exonic	PHLDB3	.	stopgain	PHLDB3:NM_198850:exon5:c.C619T:p.Q207X	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs563015561	8.83e-05	8.824e-05	5.625e-05	0.0001	0.0012	7.504e-05	7.075e-05	0.0009	0.0008	0	2.772e-05	0	0	0	0.0012	2.588e-05	0.0001	0.0010	6.566e-05	6.562e-05	3.854e-05	9.399e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	6.54e-05	0	0	0	0	5.88e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000034	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.132	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220907	0.75862	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.808236	0.98051	38	0.99773129263003846	0.86088	0.58017	0.30529	D	AEFBI	0.037392	0.05136	N	0.651246397598985	0.76450	6.488681	0.444715919746618	0.64377	4.691608	0.0297200218086353	0.13902	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.26	3.15	0.35301	2.612000	0.46007	.	.	0.607000	0.46521	0.992000	0.37556	1.000000	0.68203	0.848000	0.40082	0.0:0.0:0.7989:0.2011	9.982	0.40988	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.83	36	chr19	43497792	.	G	A	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.719;DP=262;ExcessHet=0;FS=0.917;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.712;SOR=0.576	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	43667676	43667676	C	T	exonic	PLAUR	.	nonsynonymous SNV	PLAUR:NM_001005376:exon2:c.G71A:p.R24Q,PLAUR:NM_001005377:exon2:c.G71A:p.R24Q,PLAUR:NM_001301037:exon2:c.G71A:p.R24Q,PLAUR:NM_002659:exon2:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00270115180889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.451	0.13792	T	0.295	0.32424	B	0.004	0.16862	B	0.568435	0.05466	N	1.291800	1	0.08975	N	0.785	0.19527	N	1.56	0.29602	T	-1.19	0.31375	N	0.278	0.35938	-1.0406	0.17132	T	0.022	0.09238	T	10	0.038278133	0.02235	T	0.002701	0.05550	T	0.022	0.04323	0.389	0.41115	0.0297737177859	0.01360	0.7693580601988653	0.76884	1.55192575573	0.87917	0.27343532443	0.06593	T	0.026918	0.39293	T	-0.286508	0.09989	T	-0.649325	0.09001	T	0.0628377453454346	0.07609	T	0.822518	0.48242	T	0.12674722	0.29678	0.09801573	0.23352	0.12674722	0.29677	0.09801573	0.23351	-3.858	0.25261	T	.	.	0.120	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	1.005432	0.13839	10.39	0.8887878865850074	0.18329	0.02055	0.06137	N	AEFDGBHCI	0.060552	0.11514	N	-1.77028141117973	0.00622	0.02681515	-1.86799880671092	0.00565	0.02508034	0.999999999998208	0.74766	0.627647	0.40530	0	0.586065	0.33999	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.84	-9.68	0.00441	-1.264000	0.02956	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.2173:0.1912:0.214:0.3775	0.503	0.00544	895	0.25842	.;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;.;Ly-6 antigen/uPA receptor-like;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2589.83	34	chr19	43667676	.	C	T	2589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=369;ExcessHet=0;FS=4.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.36;SOR=0.455	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1338	5	0	1	0
chr19	43747534	43747534	C	T	exonic	SMG9	.	nonsynonymous SNV	SMG9:NM_019108:exon5:c.G496A:p.V166M	Heart and brain malformation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3474412	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00646259652211	.	.	2.474e-05	0	0	0.0001	0.0002	1.499e-05	0	0	2.59e-05	4	154602	rs771617220	1.505e-05	1.505e-05	1.089e-05	1.925e-05	2.519e-05	9.85e-06	8.41e-06	1.012e-05	8.35e-06	0	2.236e-05	0	2.519e-05	1.873e-05	0	1.619e-05	1.656e-05	0	3.285e-05	3.284e-05	3.855e-05	2.69e-05	4.824e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	9.42e-05	0	2.94e-05	0	0	0.02	0.49613	D	0.038	0.51421	D	0.297	0.38723	B	0.015	0.27859	B	0.000001	0.62929	D	0.000000	0.999829	0.49512	D	1.795	0.47270	L	.	.	.	-0.73	0.20576	N	0.21	0.23758	-1.0264	0.21625	T	0.087	0.33690	T	9	0.17446554	0.32327	T	0.006463	0.17014	T	0.051	0.14325	0.548	0.66296	0.367042808489	0.36316	0.25394499512822116	0.25308	0.712895479657	0.61788	0.667504489422	0.62482	T	0.030069	0.22570	T	-0.182705	0.23333	T	-0.331092	0.41348	T	0.270310512078316	0.23761	T	0.944706	0.79983	D	0.10307997	0.24361	0.11341646	0.27371	0.10307997	0.24361	0.11341646	0.27371	-4.361	0.29023	T	.	.	0.19	0.56271	B	.;.;.	.;.;.	3.767974	0.54107	23.4	0.99823211792966793	0.90590	0.80836	0.40374	D	AEFDGBCI	0.248087	0.36855	N	-0.0927001642082245	0.37711	2.198007	0.0290460941207609	0.41070	2.461305	0.999999957160243	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.27	0.50009	3.591000	0.53733	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9138:0.0:0.0862	11.754	0.51130	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1563.83	35	chr19	43747534	.	C	T	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.561;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.189;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	5	0	1	0
chr19	43966568	43966568	C	T	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.C1066T:p.H356Y,ZNF221:NM_001297589:exon5:c.C1066T:p.H356Y,ZNF221:NM_013359:exon6:c.C1066T:p.H356Y	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.000895070584115	.	.	9.06e-05	0	0	0	0	0	0.0011	0.0006	7.12e-05	11	154602	rs779217402	3.215e-05	3.215e-05	1.77e-05	4.675e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0003	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0005	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.958461	0.26223	N	3.805	0.95442	H	-2.17	0.86624	D	-5.03	0.82575	D	0.266	0.30118	0.116	0.84472	D	0.793	0.92997	D	9	0.7179773	0.73472	D	8.95E-4	0.00822	T	0.369	0.68844	0.736	0.86892	0.919440382184	0.91862	.	.	0.201851073851	0.22596	0.647386729717	0.59615	T	0.383177	0.74509	T	-0.0939833	0.37419	T	-0.0448166	0.67375	D	0.822049558162689	0.47925	D	0.768023	0.39669	T	0.06855224	0.14943	0.13527983	0.32394	0.06855224	0.14943	0.13527983	0.32393	-10.758	0.78314	D	.	.	0.875	0.81188	P	.;.;.;.	.;.;.;.	2.973913	0.39645	21.0	0.99480692047139097	0.66850	0.93586	0.58622	D	AEFBHCI	0.302846	0.41098	N	0.273221896291169	0.54796	3.644342	0.0153288909566957	0.40427	2.412368	0.997720098133445	0.35952	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.95	1.95	0.25130	5.444000	0.66335	.	.	0.581000	0.30040	0.996000	0.39380	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	10.857	0.46011	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2311.83	132	chr19	43966568	.	C	T	2311.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.592;DP=800;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.887;SOR=0.704	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	5	0	1	0
chr19	43996098	43996098	A	G	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A241G:p.K81E,ZNF155:NM_001260487:exon5:c.A241G:p.K81E,ZNF155:NM_003445:exon5:c.A241G:p.K81E,ZNF155:NM_198089:exon5:c.A241G:p.K81E,ZNF155:NM_001260488:exon6:c.A274G:p.K92E	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00222054249645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.911e-07	6.84e-07	0	1.392e-06	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.301	0.41239	T	0.444	0.35956	B	0.206	0.37138	B	.	.	.	.	1	0.08975	N	2.24	0.63355	M	5.24	0.05249	T	-2.46	0.55339	N	0.115	0.15187	-0.9606	0.39068	T	0.012	0.04463	T	9	0.08165121	0.13390	T	0.002221	0.04206	T	0.028	0.06331	0.256	0.19689	0.225215365344	0.22153	0.019248532276261384	0.01878	0.18156926869	0.20410	0.250811040401	0.03854	T	0.012409	0.10910	T	-0.325815	0.06433	T	-0.705787	0.05515	T	0.230512768577786	0.21975	T	0.788921	0.44827	T	0.15322691	0.34743	0.13742457	0.32847	0.15322691	0.34743	0.13742457	0.32847	-3.255	0.13164	T	.	.	0.076	0.15430	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.059496	0.26183	17.03	0.98245886224382173	0.39530	0.06116	0.12093	N	AEFBI	0.047297	0.07948	N	-0.887167868815243	0.11147	0.5363711	-0.995032165882247	0.09896	0.4950747	0.00210114611079077	0.09158	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.23	1.15	0.19876	0.075000	0.14547	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.7007:0.2993:0.0:0.0	5.261	0.14888	620	0.66037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2143.06	47	chr19	43996098	.	A	G	2143.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.191;DP=342;ExcessHet=0.4139;FS=9.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.801;SOR=1.342	GT:AD:DP:GQ:PL	0/1:54,34:88:99:775,0,1385	4	0	2	0
chr19	43996828	43996828	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.G971A:p.S324N,ZNF155:NM_001260487:exon5:c.G971A:p.S324N,ZNF155:NM_003445:exon5:c.G971A:p.S324N,ZNF155:NM_198089:exon5:c.G971A:p.S324N,ZNF155:NM_001260488:exon6:c.G1004A:p.S335N	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00095530537603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.21385	T	0.182	0.33000	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.18	0.29980	L	3.13	0.08014	T	-1.13	0.29114	N	0.043	0.02366	-0.9841	0.34045	T	0.022	0.09330	T	9	0.080718964	0.13132	T	9.55E-4	0.00957	T	0.060	0.17295	0.541	0.65304	0.199424873507	0.19547	0.008337011806155724	0.00797	0.0311498456224	0.03231	0.360647916794	0.19480	T	0.002333	0.01729	T	-0.400597	0.02295	T	-0.813206	0.01594	T	0.0441108331335351	0.04441	T	0.562144	0.19728	T	0.083901346	0.19395	0.10380833	0.24917	0.083901346	0.19395	0.10380833	0.24917	-6.559	0.50739	T	.	.	0.297	0.54441	B	.;.;.;.	.;.;.;.	0.806430	0.11772	8.346	0.89604950688252505	0.18941	0.12294	0.17180	N	AEFBI	0.094160	0.19042	N	-0.906324995565478	0.10692	0.5122414	-1.02167153193883	0.09309	0.4624058	0.00245421374617525	0.09445	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.59	-1.77	0.07551	0.180000	0.16672	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.113:0.3218:0.5652:0.0	7.049	0.24240	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	5625.06	169	chr19	43996828	.	G	A	5625.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.045;DP=1081;ExcessHet=0.4139;FS=1.105;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.42;SOR=0.796	GT:AD:DP:GQ:PL	0/1:122,108:230:99:2689,0,3356	4	0	2	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	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	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1667	3964.06	38	chr19	44132312	.	A	T	3964.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=454;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.7;SOR=0.699	GT:AD:DP:GQ:PL	0/1:74,83:157:99:2224,0,1892	4	0	2	0
chr19	44157821	44157821	G	A	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.G1805A:p.G602E,ZNF234:NM_006630:exon6:c.G1805A:p.G602E	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	0.0043	0.00319489	0.0036	0.0012	0.0025	0	0	0.0045	0.0121	0.0049	0.0036093	558	154602	rs149435176	0.0047	0.0047	0.0046	0.0047	0.0121	0.0046	0.0045	0.0099	0.0090	0.0006	0.0041	0.0099	0.0001	0.0001	0.0121	0.0049	0.0058	0.0060	0.0041	0.0041	0.0039	0.0043	0.0122	0.0038	0.0037	0.0108	0.0102	0.0008	0.0044	0.0122	0.0092	0.0002	0	0.0034	0.0046	0.0090	0.0066	0.001	0.78490	D	0.033	0.53072	D	0.999	0.77913	D	0.945	0.68163	D	.	.	.	.	0.666396	0.30403	N	1.82	0.47800	L	5.15	0.01198	T	-6.52	0.91695	D	0.242	0.27792	-0.9626	0.38684	T	0.007	0.02439	T	9	0.008609742	0.00195	T	.	.	.	0.150	0.39571	.	.	0.640596862887	0.63763	0.02558227169903966	0.02509	0.555957012461	0.52279	0.514309108257	0.40825	T	0.039536	0.25223	T	-0.525658	0.00407	T	-0.526619	0.19626	T	0.0496350610517793	0.05435	T	0.709329	0.31993	T	0.08321849	0.19207	0.16898772	0.38899	0.08321849	0.19207	0.16898772	0.38899	-7.388	0.56820	T	.	.	0.466	0.62965	A	.;.	.;.	3.781642	0.54376	23.5	0.99485249485998195	0.67124	0.95253	0.64007	D	AEFGBI	0.272128	0.38783	N	0.0977414321944209	0.46358	2.877324	0.0400763745502736	0.41594	2.501572	0.0785899662676329	0.15793	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.11	1.89	0.24700	1.700000	0.37434	.	.	0.591000	0.32079	0.978000	0.35038	0.003000	0.18671	0.904000	0.43992	0.189:0.1665:0.6444:0.0	5.647	0.16873	856	0.34373	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.005051	0.012228	0.002924	0.000000	0.017241	0.009146	0.011364	0.08333	1199.83	100	chr19	44157821	.	G	A	1199.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=298;ExcessHet=0;FS=6.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.808;SOR=0.575	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	5	0	1	0
chr19	44174996	44174996	T	A	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032374:exon6:c.T248A:p.V83E,ZNF226:NM_015919:exon6:c.T248A:p.V83E,ZNF226:NM_001146220:exon7:c.T248A:p.V83E	.	422	1085	14	1	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0047	0.00319489	0.0036	0.0012	0.0025	0	0	0.0045	0.0123	0.0049	0.0036351	562	154602	rs2232803	0.0047	0.0047	0.0046	0.0047	0.0121	0.0046	0.0045	0.0099	0.0090	0.0006	0.0040	0.0097	0.0001	0.0001	0.0121	0.0049	0.0058	0.0059	0.0041	0.0041	0.0039	0.0043	0.0122	0.0038	0.0037	0.0107	0.0102	0.0008	0.0044	0.0122	0.0092	0.0002	0	0.0034	0.0046	0.0085	0.0064	0.06	0.37326	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.36	0.01050	T	2.88	0.00158	N	0.176	0.24385	-0.9226	0.45196	T	0.001	0.00378	T	8	0.004873574	0.00104	T	.	.	.	0.045	0.12272	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.610416	0.00126	T	-0.648643	0.09049	T	0.00222173242865648	0.00023	T	0.236476	0.03296	T	.	.	.	.	.	.	.	.	-2.661	0.06981	T	.	.	0.107	0.19998	B	.;.;.	.;.;.	0.909791	0.12842	9.355	0.78260449833205614	0.12224	0.00835	0.03355	N	AEFBI	0.029797	0.02878	N	-1.06050333155874	0.07382	0.3428035	-1.10556042351001	0.07593	0.3699606	0.00184851693833618	0.08939	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.74	0.59	0.16642	-0.430000	0.07043	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.762000	0.36218	0.2529:0.1464:0.0:0.6007	2.165	0.03599	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011078	0.000000	0.014946	0.002924	0.000000	0.017241	0.012195	0.011364	0.08333	1744.83	135	chr19	44174996	.	T	A	1744.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=315;ExcessHet=0;FS=7.753;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.687;SOR=1.296	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1269	5	0	1	0
chr19	44176335	44176335	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C1073T:p.T358M,ZNF226:NM_001032373:exon6:c.C1073T:p.T358M,ZNF226:NM_001319088:exon6:c.C1073T:p.T358M,ZNF226:NM_001319090:exon6:c.C1073T:p.T358M,ZNF226:NM_001319089:exon7:c.C1073T:p.T358M,ZNF226:NM_016444:exon7:c.C1073T:p.T358M	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0045	0.00379393	0.0037	0.0019	0.0025	0.0001	0	0.0045	0.0121	0.0052	0.0037257	576	154602	rs116865890	0.0047	0.0047	0.0047	0.0048	0.0121	0.0046	0.0046	0.0099	0.0090	0.0011	0.0042	0.0099	0.0002	0.0001	0.0121	0.0049	0.0059	0.0061	0.0042	0.0042	0.0040	0.0045	0.0123	0.0040	0.0039	0.0108	0.0103	0.0013	0.0044	0.0123	0.0092	0.0004	0	0.0034	0.0046	0.0090	0.0073	0.149	0.24758	T	0.084	0.41239	T	0.885	0.48692	P	0.328	0.42011	B	0.317182	0.14333	N	0.520101	1	0.81001	D	2.455	0.71248	M	1.74	0.26301	T	-3.03	0.62747	D	0.18	0.24010	-1.0450	0.15825	T	0.049	0.20987	T	10	0.006604761	0.00150	T	.	.	.	0.088	0.25558	.	.	0.60528088242	0.60212	0.06866705998577231	0.06804	0.0584859789549	0.06482	0.425830125809	0.28638	T	0.203985	0.56262	T	-0.543623	0.00319	T	-0.552149	0.17120	T	0.0336296393407075	0.02576	T	0.50225	0.15758	T	0.040152483	0.05677	0.063670464	0.12647	0.040152483	0.05676	0.063670464	0.12646	-6.895	0.53262	T	.	.	0.105	0.19276	B	.;.;.	.;.;.	1.405092	0.18197	13.60	0.96833998131611199	0.31274	0.43108	0.27025	N	AEFBCI	0.129891	0.24824	N	-0.0700234969336631	0.38711	2.271578	-0.166004825448359	0.32795	1.869475	0.0129552746672266	0.12397	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.28	3.23	0.36150	-1.046000	0.03635	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.1668:0.7408:0.0:0.0923	7.337	0.25791	906	0.23090	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.005051	0.013587	0.005848	0.000000	0.017241	0.012195	0.011364	0.08333	2427.83	175	chr19	44176335	.	C	T	2427.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=358;ExcessHet=0;FS=3.456;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.161;SOR=0.959	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	5	0	1	0
chr19	44274032	44274032	G	A	exonic	ZNF233	.	nonsynonymous SNV	ZNF233:NM_001207005:exon5:c.G1372A:p.D458N,ZNF233:NM_181756:exon5:c.G1372A:p.D458N	.	393	1123	1	0	5	6	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00864142268942	.	.	4.191e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs759797775	1.238e-05	1.307e-05	5.48e-06	1.934e-05	0.0002	7.74e-06	6.39e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.016	0.60972	D	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	0.999146	0.81001	N	0.28	0.10031	N	3.71	0.04046	T	0.43	0.03297	N	0.103	0.08646	-1.0083	0.27448	T	0.036	0.15422	T	9	0.05530867	0.06026	T	0.008641	0.22829	T	0.061	0.17616	0.59	0.71874	0.117506650769	0.11410	0.01881909633755758	0.01835	0.0884735976888	0.10002	0.311774343252	0.12174	T	0.011376	0.10158	T	-0.531624	0.00376	T	-0.727118	0.04460	T	0.122603189217633	0.14682	T	0.933807	0.75196	D	0.0722306	0.16053	0.079002984	0.17747	0.0722306	0.16052	0.079002984	0.17747	-5.468	0.41568	T	.	.	0.129	0.27642	B	.	.	2.703871	0.35325	19.87	0.99799350631477912	0.88461	0.91303	0.53262	D	AEFBI	0.184217	0.31154	N	-0.551326487656375	0.20442	1.077651	-0.554996204476344	0.20673	1.114895	0.00974098780096815	0.11905	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	4.29	0.846	0.18094	1.757000	0.38029	.	.	0.656000	0.54149	0.966000	0.33990	0.000000	0.08366	0.009000	0.08673	0.1793:0.1535:0.6673:0.0	6.375	0.20707	817	0.41665	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	.	.	.	.	.	.	.	.	0.08333	1305.83	33	chr19	44274032	.	G	A	1305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.689;DP=262;ExcessHet=0;FS=4.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.033;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	5	0	1	0
chr19	44388020	44388020	C	A	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.G225T:p.Q75H,ZNF285:NM_152354:exon4:c.G225T:p.Q75H,ZNF285:NM_001291488:exon5:c.G246T:p.Q82H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00267539601893	.	.	5.785e-05	0	0	0	0	7.505e-05	0	0.0001	4.53e-05	7	154602	rs763818931	2.257e-05	2.257e-05	1.633e-05	2.888e-05	0.0009	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.169e-05	0.0001	8.115e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07711	T	.	.	.	0.11	0.15469	-0.9649	0.38230	T	0.015	0.05897	T	9	0.04489231	0.03497	T	0.002675	0.05463	T	0.022	0.04323	0.43	0.47843	0.137902524267	0.13322	0.07063518868919941	0.07000	.	.	.	.	.	.	.	.	-0.298443	0.08807	T	-0.666469	0.07835	T	0.0480769297270904	0.05157	T	0.507449	0.16094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.62859	A	.;.;.	.;.;.	1.364273	0.17734	13.34	0.98307957363245579	0.40116	0.01846	0.05714	N	AEFDBI	0.044128	0.07061	N	-0.775589954892874	0.13949	0.690945	-0.76962919380966	0.15240	0.8005609	8.66418695952835E-5	0.04703	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	3.66	-0.0131	0.13310	-0.833000	0.04503	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.2063:0.5526:0.0:0.2411	3.197	0.06241	912	0.21483	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	865.83	37	chr19	44388020	.	C	A	865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.282;DP=282;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.851;SOR=0.536	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr19	44432363	44432363	G	A	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon5:c.C97T:p.P33S,ZNF229:NM_014518:exon5:c.C97T:p.P33S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000908782220675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385232499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	2.422e-05	0	0	.	.	2.422e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.729	0.09393	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.195	0.21710	-0.9418	0.42330	T	0.001	0.00438	T	9	0.038364857	0.02250	T	9.09E-4	0.00866	T	.	.	0.284	0.24121	0.183819452728	0.17975	0.06499936529302158	0.06438	.	.	0.264100849628	0.05389	T	.	.	.	-0.275524	0.11148	T	-0.633548	0.10148	T	0.0610830181413572	0.07338	T	0.0624937	0.00454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34970	B	.;.;.	.;.;.	0.657411	0.10261	6.994	0.5848076796295697	0.06003	0.02404	0.06808	N	AEFBI	0.038259	0.05388	N	-1.21217910712109	0.04822	0.2184604	-1.25666551857069	0.05033	0.2388628	2.18256161791154E-4	0.05997	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.61	-2.72	0.05616	-0.318000	0.08091	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.658000	0.32913	0.1103:0.4529:0.4367:0.0	7.671	0.27626	912	0.21483	Krueppel-associated box;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1050.83	33	chr19	44432363	.	G	A	1050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.156;DP=277;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.113;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	5	0	1	0
chr19	44477306	44477306	C	T	exonic	ZNF180	.	nonsynonymous SNV	ZNF180:NM_001278508:exon4:c.G1100A:p.R367Q,ZNF180:NM_001288761:exon4:c.G146A:p.R49Q,ZNF180:NM_001288762:exon4:c.G146A:p.R49Q,ZNF180:NM_001278509:exon5:c.G1094A:p.R365Q,ZNF180:NM_001288759:exon5:c.G1172A:p.R391Q,ZNF180:NM_001291633:exon5:c.G1094A:p.R365Q,ZNF180:NM_013256:exon5:c.G1175A:p.R392Q,ZNF180:NM_001288760:exon7:c.G146A:p.R49Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00631772521508	.	.	1.649e-05	9.651e-05	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs765744565	3.287e-05	3.286e-05	4.224e-05	2.34e-05	3.871e-05	2.546e-05	2.251e-05	2.916e-05	2.592e-05	2.992e-05	0	0	0	0	0	3.871e-05	1.657e-05	3.482e-05	3.291e-05	3.285e-05	2.573e-05	4.042e-05	9.672e-05	1.262e-05	7.99e-06	3.254e-05	1.918e-05	9.672e-05	0	0	0	0	0	0	1.471e-05	0	0	0.692	0.04277	T	0.854	0.03527	T	0.611	0.39680	P	0.029	0.21540	B	0.001539	0.38731	N	0.000000	1	0.08975	N	.	.	.	2.21	0.18414	T	0.51	0.03639	N	0.119	0.23380	-1.0331	0.19459	T	0.016	0.06377	T	10	0.07133895	0.10502	T	0.006318	0.16610	T	0.069	0.20116	.	.	0.28297238246	0.27903	0.13199376789081155	0.13124	0.27536817704	0.30016	0.601320743561	0.53091	T	0.002862	0.02258	T	-0.453065	0.01083	T	-0.651904	0.08822	T	0.0448996722698212	0.04584	T	0.611639	0.23235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.71281	P	.;.;.	.;.;.	1.649939	0.21048	15.03	0.97357555538227991	0.33554	0.00000	0.00017	N	AEFDGBHCI	0.064163	0.12443	N	-0.716627808477662	0.15554	0.7848962	-0.672600593819742	0.17648	0.9392949	0.206128557827689	0.18183	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.47	3.25	0.36363	-0.073000	0.11428	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1463:0.554:0.1417:0.1579	2.888	0.05318	900	0.24599	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	670.83	65	chr19	44477306	.	C	T	670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.501;DP=403;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.447;SOR=0.726	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	5	0	1	0
chr19	44907908	44907908	G	C	exonic	APOE	.	nonsynonymous SNV	APOE:NM_000041:exon3:c.G192C:p.Q64H,APOE:NM_001302688:exon3:c.G270C:p.Q90H,APOE:NM_001302689:exon3:c.G192C:p.Q64H,APOE:NM_001302690:exon3:c.G192C:p.Q64H,APOE:NM_001302691:exon3:c.G192C:p.Q64H	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	2677359	not_provided|Cardiovascular_phenotype|APOE-related_disorder	MedGen:C3661900|MedGen:CN230736|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.655	0.0787956251298	7.7e-05	0.000399361	0.0002	0	0	0.0013	0	3.067e-05	0	0.0003	0.0001294	20	154602	rs370594287	4.858e-05	4.857e-05	4.084e-05	5.639e-05	0.0007	3.927e-05	3.605e-05	0.0005	0.0004	0	0	0	0.0007	0	0.0002	2.698e-06	0.0002	0.0003	6.565e-05	6.561e-05	5.139e-05	8.056e-05	0.0014	3.514e-05	2.614e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0006	0.14	0.38863	T	0.014	0.62352	D	0.99	0.63424	D	0.518	0.48133	P	0.264289	0.15253	N	0.578119	0.917243	0.27376	N	2.83	0.82355	M	-1.54	0.81640	D	-2.36	0.52128	N	0.705	0.70878	-0.3797	0.72660	T	0.467	0.79433	T	10	0.12099835	0.22929	T	0.078796	0.73088	D	0.655	0.87035	0.864	0.95995	0.918300594365	0.91748	0.2836043192904678	0.28273	1.10089243927	0.77722	0.310065686703	0.11918	T	0.40592	0.76196	T	-0.119734	0.33167	T	-0.00111337	0.70264	D	0.123126707871081	0.14732	T	0.813419	0.46649	T	0.23451038	0.46272	0.1373287	0.32829	0.27863437	0.50916	0.22806028	0.47834	-5.586	0.42664	T	0.6347371991687236	0.70460	0.268	0.55822	B	.;.;.;.	.;.;.;.	2.914632	0.38671	20.8	0.99634290507360523	0.76264	0.36482	0.25543	N	AEFBCI	0.739999	0.68438	D	0.181843967164138	0.50327	3.223797	0.100476903651876	0.44574	2.736485	0.985701762262027	0.30934	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.604944	0.38103	0	.	.	4.85	0.982	0.18881	0.222000	0.17482	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.969000	0.54022	0.0:0.409:0.4295:0.1615	7.708	0.27829	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	406.83	55	chr19	44907908	.	G	C	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.801;DP=216;ExcessHet=0;FS=4.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.097;SOR=1.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,934	5	0	1	0
chr19	44916213	44916213	C	A	exonic	APOC1	.	nonsynonymous SNV	APOC1:NM_001321065:exon3:c.C82A:p.P28T,APOC1:NM_001379687:exon3:c.C82A:p.P28T,APOC1:NM_001645:exon3:c.C82A:p.P28T,APOC1:NM_001321066:exon4:c.C82A:p.P28T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0165625352284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.53788	T	0.611	0.39680	P	0.505	0.47795	P	0.260481	0.15325	N	0.544230	1	0.08975	N	.	.	.	0.77	0.49642	T	.	.	.	0.249	0.39052	-0.9843	0.33998	T	0.116	0.40919	T	9	0.21125141	0.37547	T	0.016563	0.37875	T	.	.	0.548	0.66296	0.490074841992	0.48640	0.07054427231967264	0.06991	0.45022711451	0.44788	0.339091420174	0.16302	T	0.838915	0.96225	D	-0.159501	0.26836	T	-0.466889	0.25851	T	0.564923822879791	0.35042	D	0.688631	0.29780	T	0.23945367	0.46836	0.1834017	0.41327	0.23945367	0.46836	0.1834017	0.41326	-4.234	0.27241	T	.	.	0.092	0.37388	B	.;.;.;.;.;.	.;.;.;.;.;.	1.188475	0.15795	12.11	0.96969100635033545	0.31811	0.10693	0.16126	N	AEFDBCIJ	0.504825	0.53623	D	-0.800043490138274	0.13309	0.6547367	-0.98155537093774	0.10200	0.5122021	0.999935729529671	0.46732	0.634777	0.41761	0	0.723109	0.82256	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.33	-1.66	0.07824	-0.285000	0.08444	.	.	-0.382000	0.05385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3729:0.3331:0.294	4.164	0.09760	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1698.83	39	chr19	44916213	.	C	A	1698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=323;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.91;SOR=0.386	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr19	44919220	44919220	T	C	exonic	APOC1	.	nonsynonymous SNV	APOC1:NM_001321065:exon4:c.T242C:p.I81T,APOC1:NM_001645:exon4:c.T242C:p.I81T,APOC1:NM_001321066:exon5:c.T242C:p.I81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00403512773978	.	.	4.136e-05	9.694e-05	8.67e-05	0	0	4.514e-05	0	0	3.84e-05	1	26028	rs773222722	1.232e-05	1.368e-05	8.169e-06	1.65e-05	8.947e-05	7.7e-06	6.35e-06	2.985e-05	1.804e-05	0	8.947e-05	0	0	0	0	1.079e-05	0	2.319e-05	1.972e-05	1.97e-05	0	4.036e-05	6.552e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.552e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.0	0.92824	D	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	1.09	0.39223	T	.	.	.	0.045	0.01740	-1.0026	0.29168	T	0.055	0.23262	T	8	0.059755147	0.07234	T	0.004035	0.09587	T	.	.	0.387	0.40788	0.39619538035	0.39233	0.01778409292936426	0.01733	0.606671787836	0.55507	0.428657531738	0.29026	T	0.149268	0.48819	T	-0.507219	0.00521	T	-0.784834	0.02311	T	0.0564541741231852	0.06598	T	0.457954	0.13172	T	0.21111053	0.43427	0.22075379	0.46862	0.21111053	0.43427	0.22075379	0.46861	-2.988	0.10052	T	.	.	0.066	0.02458	B	.;.	.;.	-0.425472	0.02119	0.201	0.98131502854951402	0.38522	0.00278	0.01504	N	AEFDBHCI	0.091441	0.18521	N	-1.25578336273398	0.04224	0.1902162	-1.42697506955809	0.02985	0.1383887	0.830985606575357	0.24693	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	2.54	-5.09	0.02699	-0.708000	0.05138	.	.	0.583000	0.30283	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.1702:0.24:0.3361:0.2537	0.857	0.01110	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	925.83	78	chr19	44919220	.	T	C	925.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.324;DP=248;ExcessHet=0;FS=4.389;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-1.924;QD=11.87;ReadPosRankSum=-1.146;SOR=0.98	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1104	5	0	1	0
chr19	44990584	44990584	G	A	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon10:c.G1280A:p.R427Q,CLPTM1:NM_001282176:exon10:c.G1016A:p.R339Q,CLPTM1:NM_001294:exon10:c.G1322A:p.R441Q	.	417	1097	8	0	0	8	0.00363306	0.0023	0.04	.	3214270	CLPTM1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00879429344642	.	0.00119808	0.0006	0	0	0	0	6.019e-05	0	0.0044	0.0005498	85	154602	rs151296794	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0002	0.0033	0.0032	0	4.475e-05	0	0	0	0.0002	6.659e-05	0.0002	0.0036	0.0001	0.0001	5.141e-05	0.0002	0.0027	7.089e-05	5.746e-05	0.0016	0.0013	2.407e-05	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0027	0.343	0.12592	T	0.393	0.15355	T	0.009	0.15093	B	0.005	0.11217	B	0.001248	0.39669	N	0.241058	0.995024	0.43677	D	1.39	0.34934	L	.	.	.	-0.49	0.15578	N	0.457	0.49783	-0.8783	0.49896	T	0.192	0.54521	T	9	0.012220532	0.00264	T	0.008794	0.23196	T	0.055	0.15663	.	.	0.540240987785	0.53675	0.3793797432434692	0.37852	0.843284677431	0.68164	0.567537307739	0.48329	T	0.044901	0.26958	T	-0.340488	0.05353	T	-0.262384	0.48586	T	0.0172286230023846	0.00465	T	0.963704	0.86510	D	0.099150434	0.23395	0.083803326	0.19233	0.099150434	0.23395	0.083803326	0.19233	-5.755	0.46330	T	.	.	0.064	0.06756	B	.;.;.	.;.;.	4.176453	0.62841	24.5	0.99170820945214766	0.54383	0.83896	0.42987	D	AEFDBHCI	0.612778	0.60072	D	-0.0909960928787201	0.37786	2.20346	0.0827962405550232	0.43684	2.66508	0.989680984042248	0.31904	0.706548	0.73137	0	0.696144	0.67643	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	3.022000	0.49342	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	15.998	0.80063	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	958.83	40	chr19	44990584	.	G	A	958.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=277;ExcessHet=0;FS=4.6;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.607;SOR=0.335	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	5	0	1	0
chr19	45348072	45348072	C	T	exonic	KLC3	.	nonsynonymous SNV	KLC3:NM_177417:exon5:c.C691T:p.R231C	.	418	1102	2	0	0	2	0.000906618	.	.	.	3452338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.159609576614	7.7e-05	.	0.0004	0.0006	0	0.0002	0	0.0001	0	0.0014	0.0001552	24	154602	rs375917528	9.309e-05	9.44e-05	7.402e-05	0.0001	0.0006	8.022e-05	7.491e-05	0.0005	0.0004	9.023e-05	2.328e-05	0	7.664e-05	0	0	6.324e-05	0.0001	0.0006	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0004	3.077e-05	2.21e-05	7.285e-05	3.027e-05	9.65e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.002	0.83351	D	0.034	0.20480	B	0.013	0.16460	B	0.000178	0.48594	D	0.081040	0.999863	0.50061	D	1.245	0.31408	L	0.69	0.51714	T	-5.01	0.82450	D	0.556	0.58798	-1.0042	0.28696	T	0.088	0.34023	T	10	0.09420344	0.16730	T	0.15961	0.83978	D	0.114	0.32008	.	.	0.560228584591	0.55684	0.6121561658443477	0.61147	0.0643067780988	0.07168	0.730396389961	0.71564	T	0.525515	0.83485	D	-0.365866	0.03809	T	-0.385047	0.35131	T	0.18724508054785	0.19680	T	0.866613	0.56692	D	0.590508	0.72178	0.37259114	0.62464	0.590508	0.72179	0.37259114	0.62464	-11.369	0.82074	D	.	.	0.424	0.68235	A	.;.;.;.;.	.;.;.;.;.	5.674132	0.92956	33	0.99867812666052769	0.94547	0.77855	0.38330	D	AEFDBCI	0.523696	0.54719	D	-0.274127952107889	0.30151	1.67852	-0.187514263725576	0.31994	1.81596	0.928132412965094	0.26917	0.660377	0.49826	0	0.514364	0.08380	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.24	2.2	0.26966	2.495000	0.44997	1.332000	0.25676	0.580000	0.29708	1.000000	0.71638	0.988000	0.31051	0.978000	0.57271	0.2318:0.6431:0.0:0.1251	4.035	0.09209	917	0.20147	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	33	chr19	45348072	.	C	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=215;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=0.572;SOR=0.385	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	45522772	45522772	G	A	exonic	VASP	.	nonsynonymous SNV	VASP:NM_003370:exon7:c.G775A:p.G259R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.300069100448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.76e-06	3.42e-06	1.374e-06	4.158e-06	2.484e-05	6.5e-07	4.4e-07	7.2e-07	2e-07	0	2.484e-05	0	0	0	0	2.706e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.59732	D	0.327	0.33167	B	0.021	0.19346	B	0.297598	0.14656	N	0.638845	0.568092	0.31201	N	2.495	0.72670	M	-1.77	0.83660	D	-4.85	0.81107	D	0.256	0.28965	-0.3636	0.73156	T	0.367	0.72735	T	10	0.2720894	0.44750	T	0.300069	0.90852	D	0.162	0.41843	0.27	0.21893	0.535909150963	0.53241	0.25004082423166646	0.24918	1.21004634629	0.80811	0.710793614388	0.68708	T	0.803962	0.95031	D	-0.00614825	0.50804	T	-0.246608	0.50151	T	0.973310828208923	0.70046	D	0.940706	0.77799	D	0.122224145	0.28726	0.17025378	0.39120	0.122224145	0.28726	0.17025378	0.39119	-9.17	0.68785	D	.	.	0.664	0.71476	P	.	.	3.147039	0.42582	21.6	0.97559609529935531	0.34615	0.29478	0.23832	N	AEFBCI	0.069878	0.13849	N	-0.474116585708597	0.22931	1.227875	-0.448326234289985	0.23596	1.287634	0.999997847367976	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	3.92	2.9	0.32809	3.704000	0.54546	3.707000	0.39544	-0.247000	0.07223	0.997000	0.40164	1.000000	0.68203	0.038000	0.14061	0.8797:0.0:0.1203:0.0	6.767	0.22761	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	843.83	33	chr19	45522772	.	G	A	843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=234;ExcessHet=0;FS=3.442;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.059;SOR=0.968	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1121	5	0	1	0
chr19	45614619	45614619	C	T	exonic	EML2	.	nonsynonymous SNV	EML2:NM_001352051:exon15:c.G1331A:p.G444E,EML2:NM_001352054:exon17:c.G1613A:p.G538E,EML2:NM_012155:exon17:c.G1679A:p.G560E,EML2:NM_001193268:exon20:c.G2282A:p.G761E,EML2:NM_001193269:exon20:c.G2120A:p.G707E,EML2:NM_001352052:exon20:c.G2279A:p.G760E,EML2:NM_001352053:exon20:c.G2117A:p.G706E	.	.	.	.	.	.	.	.	.	.	.	2755037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.414	0.0831893346649	.	0.000199681	4.942e-05	0	0	0	0	8.991e-05	0	0	4.53e-05	7	154602	rs201142610	5.473e-05	5.472e-05	4.765e-05	6.188e-05	7.195e-05	4.477e-05	4.147e-05	5.885e-05	5.451e-05	0	0	0	0	0	0	7.195e-05	0	0	1.97e-05	1.968e-05	1.285e-05	2.685e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.405e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.891	0.63213	P	0.000000	0.84330	D	0.048286	1	0.81001	D	3.675	0.94400	H	1.13	0.38718	T	-5.67	0.87143	D	0.903	0.90363	-0.1658	0.78530	T	0.317	0.68655	T	10	0.8293195	0.82099	D	0.083189	0.74062	D	0.414	0.72479	.	.	0.813243436475	0.81148	0.610265953653914	0.60958	0.956258092959	0.72833	0.720698595047	0.70149	T	0.236169	0.63393	T	-0.0416838	0.45697	T	-0.0940525	0.63854	T	0.993681073188782	0.84585	D	0.988951	0.96278	D	0.78014547	0.82663	0.7336228	0.84258	0.78014547	0.82664	0.7336228	0.84259	-12.178	0.88863	D	.	.	0.941	0.86011	P	.;.;.;.	.;.;.;.	5.205928	0.87343	29.2	0.99764822134385633	0.85335	0.89139	0.49427	D	ALL	0.911578	0.87105	D	0.947809087179471	0.93897	12.35453	0.857409232317984	0.93442	12.045	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.12	5.12	0.69459	7.768000	0.84170	7.552000	0.60294	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	16.105	0.81025	812	0.42537	.;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1407.83	33	chr19	45614619	.	C	T	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.982;DP=289;ExcessHet=0;FS=4.62;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.014;SOR=0.537	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1424	5	0	1	0
chr19	45762047	45762047	G	T	exonic	MEIOSIN	.	nonsynonymous SNV	MEIOSIN:NM_001310124:exon13:c.G1543T:p.A515S	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147686413498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.14456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.09	0.96627	D	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	0.071795076	0.10632	T	0.014769	0.35101	T	.	.	.	.	0.830697261641	0.82909	0.08066456423365446	0.08001	0.00140046893544	0.00121	.	.	.	0.010687	0.09625	T	-0.087692	0.38455	T	-0.36374	0.37620	T	.	.	.	0.290171	0.05279	T	0.023736823	0.01139	0.0665659	0.13653	0.023736823	0.01138	0.0665659	0.13653	-4.257	0.27570	T	.	.	0.094	0.14339	B	.	.	0.092933	0.04961	1.528	0.57877079141784937	0.05866	0.01987	0.06001	N	AEFBI	0.058823	0.11065	N	.	.	.	.	.	.	0.998682325740934	0.37455	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.6	-2.77	0.05529	-0.090000	0.11129	0.415000	0.18155	0.676000	0.76740	0.010000	0.18352	0.006000	0.19429	0.023000	0.12082	0.4594:0.1711:0.3695:0.0	4.887	0.13065	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	746.83	59	chr19	45762047	.	G	T	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.311;DP=328;ExcessHet=0;FS=2.667;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.961;SOR=0.392	GT:AD:DP:GQ:PL	0/1:17,28:45:99:757,0,417	5	0	1	0
chr19	45770512	45770512	G	A	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon13:c.C1595T:p.A532V,DMPK:NM_001081562:exon15:c.C1847T:p.A616V	Myotonic dystrophy 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.148396511481	.	0.000998403	0.0022	0	0	0	0	0.0002	0	0.0046	0.0002781	43	154602	rs531756343	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.802e-05	0	2.798e-05	0	0.0009	8.343e-06	0.0003	0.0048	0.0002	0.0002	6.422e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.99666	0.43340	D	.	.	.	-0.33	0.68329	T	-0.77	0.21429	N	0.104	0.10769	-1.0542	0.13251	T	0.135	0.44933	T	8	0.005459368	0.00120	T	0.148397	0.83032	D	0.122	0.33800	.	.	0.549249573952	0.54581	.	.	.	.	.	.	.	.	.	.	-0.262024	0.12665	T	-0.148065	0.59414	T	0.0739941283604596	0.09201	T	0.482252	0.14601	T	.	.	.	.	.	.	.	.	-4.563	0.31703	T	.	.	0.080	0.07889	B	.;.;.	.;.;.	0.893882	0.12673	9.198	0.98345346053517269	0.40487	0.12524	0.17321	N	ALL	0.147224	0.27085	N	-0.862451051455916	0.11746	0.5685043	-0.870956801713305	0.12785	0.6596362	0.999999999997198	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.06	1.89	0.24700	0.288000	0.18695	2.195000	0.31239	-0.208000	0.08445	0.000000	0.06391	0.978000	0.30204	0.045000	0.14751	0.1101:0.1986:0.6913:0.0	5.650	0.16888	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	514.83	34	chr19	45770512	.	G	A	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.78;DP=178;ExcessHet=0;FS=1.609;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.969;SOR=1.207	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	5	0	1	0
chr19	45772673	45772673	G	C	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon8:c.C1045G:p.L349V,DMPK:NM_001081563:exon9:c.C1342G:p.L448V,DMPK:NM_001081560:exon10:c.C1297G:p.L433V,DMPK:NM_001081562:exon10:c.C1297G:p.L433V,DMPK:NM_001288766:exon10:c.C1297G:p.L433V,DMPK:NM_004409:exon10:c.C1312G:p.L438V,DMPK:NM_001288764:exon11:c.C1390G:p.L464V	Myotonic dystrophy 1, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0256614183035	.	.	8.417e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs544056738	5.062e-06	4.788e-06	5.743e-06	4.371e-06	3.693e-06	2.11e-06	1.35e-06	8.6e-07	5.8e-07	0	0	0	0	0	0	3.693e-06	5.253e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.28520	T	0.259	0.92824	T	0.001	0.07471	B	0.002	0.06944	B	0.604031	0.10930	N	0.740904	1	0.08975	N	0.98	0.24916	L	-0.19	0.66834	T	-0.78	0.21644	N	0.098	0.08646	-1.0189	0.24074	T	0.141	0.46054	T	10	0.058338642	0.06844	T	0.025661	0.48617	D	0.094	0.27141	0.052	0.00113	0.534572409765	0.53106	0.19857638901607969	0.19774	0.350907931514	0.36936	0.318869203329	0.13250	T	0.271329	0.64365	T	-0.258174	0.13114	T	-0.573228	0.15155	T	0.0255482745164667	0.01346	T	0.757724	0.38135	T	0.04215341	0.06341	0.037261162	0.03343	0.04215341	0.06341	0.037261162	0.03342	-3.932	0.24057	T	.	.	0.064	0.07697	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.071873	0.14545	11.11	0.85302105366081082	0.15808	0.05200	0.11024	N	AEFDBHCI	0.064609	0.12555	N	-1.02247285634358	0.08139	0.3805575	-1.08567839247144	0.07982	0.3904845	0.999991315584831	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.31	-0.312	0.12125	0.884000	0.27851	2.113000	0.30672	0.676000	0.76740	0.017000	0.19353	0.150000	0.23170	0.252000	0.23314	0.132:0.213:0.437:0.218	1.507	0.02338	799	0.44747	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1741.06	33	chr19	45772673	.	G	C	1741.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.95;DP=272;ExcessHet=0.4139;FS=1.374;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.1;SOR=0.551	GT:AD:DP:GQ:PL	0/1:22,46:68:99:1179,0,434	4	0	2	0
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.25	5689.03	39	chr19	46230303	.	T	G	5689.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.56;DP=540;ExcessHet=1.383;FS=2.458;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.074;SOR=0.902	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1740,0,2047	3	0	3	0
chr19	46470933	46470933	C	T	exonic	PNMA8A	.	nonsynonymous SNV	PNMA8A:NM_001103149:exon2:c.G103A:p.G35R,PNMA8A:NM_018215:exon2:c.G103A:p.G35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00765659230553	0.0002	.	0.0004	9.714e-05	0.0003	0	0	0.0005	0.0011	0.0002	0.0003234	50	154602	rs200401445	0.0003	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0006	0.0004	5.652e-05	0.0003	0.0021	0	1.884e-05	0.0014	0.0003	0.0008	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	2.413e-05	0	0.0003	0.0020	0	0	0	0.0002	0	0.0002	0.008	0.63226	D	0.009	0.66756	D	0.996	0.68779	D	0.929	0.66367	D	0.021283	0.26863	N	0.182769	0.997727	0.22536	N	.	.	.	2.89	0.10196	T	-3.04	0.62863	D	0.391	0.44090	-1.1095	0.03113	T	0.058	0.24354	T	10	0.06037146	0.07404	T	0.007657	0.20325	T	0.092	0.26621	0.227	0.15257	0.553307244281	0.54988	0.3017009045338735	0.30083	0.561397256276	0.52646	0.474997758865	0.35369	T	0.019681	0.15634	T	-0.372647	0.03462	T	-0.456902	0.26938	T	0.0764954919006002	0.09532	T	0.410359	0.76145	T	0.1497453	0.34123	0.18831097	0.42114	0.1497453	0.34123	0.18831097	0.42113	-6.983	0.53983	T	.	.	0.275	0.53355	B	.;.;.	.;.;.	3.752977	0.53807	23.4	0.99869918519954581	0.94726	0.46239	0.27716	N	AEFDBCI	0.096787	0.19534	N	0.276426085016521	0.54956	3.66016	0.153786843546217	0.47344	2.965961	0.999964605770356	0.48965	0.766844	0.99359	0	0.627178	0.54094	0	0.851219	0.99655	0	0.651492	0.60203	0	.	.	3.94	1.69	0.23290	0.912000	0.28220	2.069000	0.30434	0.599000	0.40250	0.856000	0.30544	0.925000	0.28409	0.832000	0.39227	0.2015:0.6907:0.0:0.1078	5.143	0.14300	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003099	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	1396.83	84	chr19	46470933	.	C	T	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.989;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.346;SOR=0.773	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	5	0	1	0
chr19	46493659	46493659	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G1807A:p.A603T	.	422	1080	19	1	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.00459265	0.0090	0	0.0045	0	0	0.0035	0.005	0.0207	0.0028201	436	154602	rs375877688	0.0027	0.0027	0.0022	0.0032	0.0186	0.0026	0.0026	0.0178	0.0175	0.0002	0.0011	0.0028	0	0.0001	0.0085	0.0018	0.0033	0.0186	0.0017	0.0017	0.0013	0.0020	0.0207	0.0015	0.0014	0.0174	0.0162	0.0002	0	0.0009	0.0026	0.0002	9.414e-05	0.0205	0.0017	0.0009	0.0207	.	.	.	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.01	0.21291	T	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.00285092	0.00045	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.051661787910480456	0.05108	.	.	0.592301189899	0.51819	T	.	.	.	-0.641604	0.00082	T	-0.679459	0.07016	T	.	.	.	0.340966	0.07383	T	0.02202339	0.00839	0.07431563	0.16243	0.02202339	0.00838	0.07431563	0.16243	-4.393	0.29462	T	.	.	0.097	0.15832	B	.	.	1.204061	0.15965	12.23	0.73959893321016346	0.10518	0.05151	0.10964	N	AEFDBCI	0.044160	0.07072	N	.	.	.	.	.	.	0.989751113103274	0.31925	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	1.99	0.886	0.18329	-0.507000	0.06434	0.319000	0.17164	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6824:0.3176:0.0	6.247	0.20030	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007748	0.000000	0.008197	0.003185	0.000000	0.000000	0.022013	0.011364	0.08333	253.83	33	chr19	46493659	.	C	T	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.984;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-1.207;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,974	5	0	1	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	4079.03	39	chr19	46493986	.	G	C	4079.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.52;DP=507;ExcessHet=1.383;FS=1.673;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.054;SOR=0.792	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1574,0,1307	3	0	3	0
chr19	46621654	46621654	C	A	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon3:c.G787T:p.A263S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00944716931491	.	.	8.717e-06	0	0	0	0	1.596e-05	0	0	6.5e-06	1	154602	rs773838809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.373	0.28575	T	0.592	0.39119	P	0.241	0.38645	B	0.001813	0.37945	N	0.215520	0.997174	0.43684	D	0.74	0.18910	N	1.16	0.38073	T	-1.15	0.29525	N	0.391	0.43223	-1.0871	0.06030	T	0.077	0.30889	T	10	0.16507682	0.30865	T	0.009447	0.24763	T	0.048	0.13305	0.392	0.41606	0.560303992393	0.55691	0.49738050136645845	0.49659	0.290016544937	0.31410	0.462043404579	0.33591	T	0.166737	0.51308	T	-0.172448	0.24864	T	-0.485486	0.23865	T	0.443617118932861	0.30562	T	0.762324	0.38756	T	0.20458664	0.42573	0.18506832	0.41598	0.20458664	0.42573	0.18506832	0.41597	-7.316	0.56309	T	.	.	0.163	0.47730	B	.;.;.	.;.;.	3.884482	0.56480	23.7	0.99100162829069049	0.52446	0.82273	0.41526	D	AEFDBHCI	0.484176	0.52430	N	-0.0546686770648517	0.39395	2.322434	0.00629347706748604	0.40005	2.380785	0.999999991253468	0.74766	0.608966	0.35542	0	0.685571	0.66316	0	0.769059	0.98459	0	0.567892	0.33627	0	.	.	4.39	4.39	0.52211	2.795000	0.47553	5.787000	0.49843	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	14.479	0.67150	929	0.16858	GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	444.83	33	chr19	46621654	.	C	A	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.422;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.006;SOR=0.671	GT:AD:DP:GQ:PL	0/0:27,0:27:69:0,69,1035	5	0	1	0
chr19	47155163	47155163	G	A	exonic	SAE1	.	nonsynonymous SNV	SAE1:NM_001145713:exon5:c.G577A:p.D193N,SAE1:NM_001145714:exon5:c.G577A:p.D193N,SAE1:NM_005500:exon5:c.G577A:p.D193N	.	429	1089	3	1	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0322604221546	0.0003	0.000199681	8.237e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs140118489	2.736e-05	2.736e-05	3.267e-05	2.2e-05	0.0005	2.063e-05	1.816e-05	0.0003	0.0003	0.0005	2.236e-05	0	5.038e-05	0	0	8.993e-06	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.548e-05	0	0	0	0	0	0	0.0002	0.151	0.24564	T	0.482	0.31527	T	0.009	0.15093	B	0.007	0.12992	B	0.000299	0.46274	D	0.217639	0.991	0.43910	D	1.295	0.32453	L	0.96	0.72237	T	-0.76	0.24676	N	0.195	0.23506	-0.6835	0.61211	T	0.271	0.64297	T	10	0.07117236	0.10454	T	0.03226	0.54132	D	0.090	0.26093	.	.	0.749852952628	0.74759	0.301399318879127	0.30052	0.203931500419	0.22808	0.492137849331	0.37735	T	0.008223	0.11676	T	-0.381485	0.03049	T	-0.428269	0.30131	T	0.0596070633534275	0.07105	T	0.953405	0.82184	D	0.123652555	0.29031	0.11325168	0.27332	0.123652555	0.29031	0.11325168	0.27332	-8.954	0.68466	D	.	.	0.131	0.28464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.032629	0.59644	24.1	0.9971834119376447	0.81843	0.95696	0.65767	D	AEFDBCIJ	0.846929	0.76379	D	0.160449662012385	0.49309	3.132646	0.333965517349074	0.57545	3.920817	0.999999999999997	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.368000	0.78824	11.712000	0.94670	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	18.440	0.90611	862	0.33134	THIF-type NAD/FAD binding fold;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	686.83	34	chr19	47155163	.	G	A	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.735;DP=258;ExcessHet=0;FS=0.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.68;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	5	0	1	0
chr19	47341205	47341205	G	A	exonic	C5AR2	.	nonsynonymous SNV	C5AR2:NM_001271749:exon2:c.G406A:p.A136T,C5AR2:NM_001271750:exon2:c.G406A:p.A136T,C5AR2:NM_018485:exon2:c.G406A:p.A136T	.	395	1126	1	0	0	1	0.000443853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0319263725788	.	0.000798722	0.0008	0	0	0	0	1.515e-05	0.0011	0.0055	0.0006274	97	154602	rs551052413	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0047	0.0045	2.988e-05	0	0	0	0	0.0005	2.698e-06	0.0002	0.0050	0.0001	0.0001	7.713e-05	0.0002	0.0035	7.578e-05	6.282e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	0	0	0.0035	.	.	.	0.044	0.49663	D	0.986	0.61523	D	0.848	0.60574	P	0.000842	0.41440	U	0.160025	0.999	0.21810	N	2.72	0.79541	M	-0.6	0.71662	T	.	.	.	0.333	0.38438	-0.5164	0.68050	T	0.393	0.74663	T	10	0.013469905	0.00286	T	0.031926	0.53888	D	.	.	0.558	0.67684	0.769653552232	0.76754	0.3230668435271442	0.32219	0.608496289833	0.55620	0.505989730358	0.39661	T	0.110642	0.42550	T	-0.321657	0.06764	T	-0.23331	0.51451	T	0.155370206083906	0.17523	T	0.554445	0.19192	T	0.0945693	0.22237	0.1401203	0.33410	0.0945693	0.22236	0.1401203	0.33409	-4.796	0.34545	T	.	.	0.110	0.21239	B	.;.	.;.	2.805637	0.36920	20.4	0.99276883919491365	0.57765	0.53289	0.29336	D	AEFBI	0.220296	0.34507	N	0.227390812630577	0.52531	3.426592	0.134706398793326	0.46336	2.881296	0.0281277805802975	0.13813	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.34	4.34	0.51267	4.712000	0.61578	4.560000	0.43837	0.672000	0.70159	0.994000	0.38300	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	14.394	0.66563	889	0.27310	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	602.83	34	chr19	47341205	.	G	A	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.303;DP=218;ExcessHet=0;FS=4.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.106;SOR=0.462	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	5	0	1	0
chr19	48123309	48123309	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon20:c.C1810T:p.R604C,LIG1:NM_001289063:exon21:c.C1921T:p.R641C,LIG1:NM_001320971:exon21:c.C1924T:p.R642C,LIG1:NM_000234:exon22:c.C2014T:p.R672C,LIG1:NM_001320970:exon22:c.C2011T:p.R671C	DNA ligase I deficiency (3)	422	1099	1	0	0	1	0.000454752	.	.	.	1347348	not_provided|Immunodeficiency_96	MedGen:C3661900|MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.0969984534884	0.0005	0.000199681	0.0002	9.897e-05	0	0	0.0002	0.0003	0	0.0001	0.0001876	29	154602	rs55950593	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	5.974e-05	2.236e-05	0	5.038e-05	1.894e-05	0.0007	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.535e-05	0	0	0	0.0034	0.0004	0.0014	0	0.002	0.72154	D	0.01	0.70582	D	0.999	0.90584	D	0.893	0.65739	P	0.000002	0.62929	D	0.060149	1	0.81001	D	3.555	0.93317	H	-1.53	0.81559	D	-5.92	0.88963	D	0.546	0.58629	0.482	0.90296	D	0.679	0.88903	D	10	0.50501317	0.61767	D	0.096998	0.76699	D	0.598	0.84074	.	.	0.846800510397	0.84533	0.3703831264285899	0.36952	1.08646876882	0.77298	0.604157567024	0.53492	T	0.748744	0.93098	D	0.0191525	0.54267	T	0.0986023	0.76816	D	0.913288116455078	0.56950	D	0.977202	0.93576	D	0.7803998	0.82678	0.5671814	0.74945	0.7803998	0.82680	0.5671814	0.74945	-10.951	0.81027	D	.	.	0.124	0.29200	B	.;.;.;.	.;.;.;.	5.628418	0.92656	32	0.99943225451266759	0.99848	0.89343	0.49750	D	AEFBI	0.403335	0.47706	N	0.696412663512058	0.79398	7.069019	0.60249595135458	0.75120	6.254853	0.999978676157658	0.50053	0.730579	0.87903	0	0.702456	0.74545	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	3.495000	0.53043	9.619000	0.81102	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8196:0.1804	11.423	0.49239	846	0.36215	DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	293.83	34	chr19	48123309	.	G	A	293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.267;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=-0.104;SOR=0.746	GT:AD:DP:GQ:PL	0/0:30,0:30:87:0,87,1305	5	0	1	0
chr19	48195497	48195497	G	C	exonic	ZSWIM9	.	nonsynonymous SNV	ZSWIM9:NM_199341:exon4:c.G1433C:p.G478A	.	384	1129	9	0	0	9	0.00397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00840702211268	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772914578	2.853e-05	2.668e-05	2.307e-05	3.433e-05	0.0003	2.088e-05	1.853e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.271e-05	7.617e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.0	0.92824	D	0.087	0.24971	B	0.029	0.21540	B	0.000679	0.42516	D	0.000000	0.999988	0.18198	N	.	.	.	.	.	.	-1.55	0.37566	N	0.171	0.18239	-0.9399	0.42632	T	0.122	0.42336	T	9	0.09736374	0.17529	T	0.008407	0.22257	T	0.037	0.09474	0.227	0.15257	0.0297737177859	0.01360	0.11290752725570026	0.11218	.	.	.	.	.	0.027618	0.20184	T	-0.335026	0.05740	T	-0.482349	0.24198	T	0.053685396977971	0.06135	T	0.593441	0.21910	T	0.068843395	0.15034	0.0793968	0.17871	0.068843395	0.15033	0.0793968	0.17871	-6.164	0.47631	T	.	.	0.081	0.19720	B	.;.	.;.	2.006561	0.25495	16.78	0.98462141454685259	0.41757	0.63595	0.32138	D	AEFDBCI	0.057265	0.10653	N	-0.572747423224815	0.19776	1.03766	-0.62676311743761	0.18806	1.006275	0.0528052404720527	0.14918	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.55	1.3	0.20778	1.670000	0.37118	1.324000	0.25623	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.005000	0.06747	0.0:0.3374:0.6626:0.0	11.342	0.48776	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1097.83	80	chr19	48195497	.	G	C	1097.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.339;DP=243;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.81;SOR=0.589	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	5	0	1	0
chr19	48881122	48881124	TTC	-	exonic	TULP2	.	nonframeshift deletion	TULP2:NM_003323:exon13:c.1450_1452del:p.E484del	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs766208567	0.0002	0.0002	7.886e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	1.824e-06	6.803e-05	0.0025	4.654e-05	4.624e-05	5.189e-05	4.092e-05	0.0015	2.132e-05	1.541e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1587.79	67	chr19	48881121	.	GTTC	G	1587.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.756;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.7;ReadPosRankSum=-0.102;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1085	5	0	1	0
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V	Glaucoma 1, open angle, 1O	1	1467	51	3	0	57	0.0190572	.	.	.	29056	not_provided|Glaucoma_1,_open_angle,_O|Intellectual_disability,_X-linked_99	MedGen:C3661900|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100|MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011616	0.000000	0.017663	0.008772	0.050000	0.017241	0.018293	0.011364	0.08333	1736.83	33	chr19	49061735	.	G	A	1736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.591;DP=333;ExcessHet=0;FS=1.321;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.01;SOR=0.865	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1747,0,1782	5	0	1	0
chr19	49154453	49154453	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.784_785insATGATG:p.D261_V262insDD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0056	0.0050	0.0009	0.0076	0.0002	0.0036	0.0050	0.0191	0.0001537	4	26028	rs541138770	0.0052	0.0052	0.0048	0.0057	0.0221	0.0051	0.0051	0.0212	0.0209	0.0056	0.0021	0.0085	0.0090	0.0005	0.0114	0.0040	0.0060	0.0221	0.0055	0.0056	0.0053	0.0057	0.0254	0.0052	0.0051	0.0214	0.0199	0.0060	0.0132	0.0026	0.0096	0.0105	0.0006	0	0.0047	0.0074	0.0254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5885.35	91	chr19	49154453	.	A	ACATCAT	5885.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.646;DP=442;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.81;ReadPosRankSum=0.516;SOR=0.594	GT:AD:DP:GQ:PL	0/1:0,19:42:99:1598,835,817	5	0	1	0
chr19	49294407	49294407	C	T	exonic	SLC6A16	.	nonsynonymous SNV	SLC6A16:NM_014037:exon8:c.G1376A:p.R459H	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0073	0.00479233	0.0037	0.0192	0.0021	0	0.0002	0.0026	0.0011	0.0036	0.0034346	531	154602	rs138253216	0.0024	0.0024	0.0023	0.0024	0.0216	0.0023	0.0023	0.0203	0.0198	0.0216	0.0028	0.0013	0	0.0003	0.0043	0.0018	0.0030	0.0036	0.0069	0.0069	0.0068	0.0070	0.0180	0.0065	0.0064	0.0169	0.0165	0.0180	0	0.0057	0.0014	0	0.0003	0.0034	0.0027	0.0048	0.0017	0.293	0.25873	T	0.461	0.12597	T	0.141	0.27581	B	0.038	0.23361	B	0.747423	0.09727	N	0.874362	1	0.08975	N	-0.865	0.01458	N	-0.81	0.78967	T	0.71	0.02130	N	0.125	0.11769	-1.0312	0.20066	T	0.078	0.31042	T	10	0.0046471953	0.00097	T	.	.	.	0.055	0.15663	.	.	0.689334609144	0.68667	0.1302183923567674	0.12946	0.232318270536	0.25778	0.315992683172	0.12813	T	0.01182	0.10487	T	-0.603928	0.00138	T	-0.623358	0.10923	T	0.00433142655707461	0.00046	T	0.446155	0.12501	T	0.027017904	0.01836	0.028977517	0.01186	0.027017904	0.01835	0.028977517	0.01186	-3.33	0.14126	T	.	.	0.075	0.10111	B	.;.;.	.;.;.	0.553371	0.09222	6.002	0.92429370541107858	0.21848	0.01050	0.03913	N	AEFDGBI	0.026945	0.02113	N	-1.26464066904413	0.04109	0.1848481	-1.25274284416361	0.05090	0.2417338	0.00284190852363859	0.09746	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.98	0.257	0.14830	-0.500000	0.06487	-4.361000	0.02197	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4594:0.3491:0.1915	4.784	0.12586	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	912.83	38	chr19	49294407	.	C	T	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.964;DP=249;ExcessHet=0;FS=4.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.974;SOR=0.41	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr19	49417448	49417448	C	T	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon20:c.C1627T:p.P543S	.	389	1132	1	0	0	1	0.000441501	.	.	.	3271921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00941353595875	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762561630	4.276e-05	4.378e-05	4.081e-05	4.477e-05	0.0002	3.38e-05	3.041e-05	3.67e-05	3e-05	0	0.0001	0	0	0	0.0002	4.345e-05	8.576e-05	3.777e-05	5.918e-05	5.911e-05	5.143e-05	6.731e-05	0.0002	3.08e-05	2.212e-05	5.295e-05	2.838e-05	0	0	0.0002	0	0	0	0	7.352e-05	0.0005	0	0.051	0.39334	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.032344	0.25042	N	0.225687	0.998751	0.21933	N	.	.	.	1.56	0.29602	T	0.28	0.04233	N	0.079	0.05414	-1.0518	0.13899	T	0.048	0.20395	T	10	0.054239213	0.05744	T	0.009414	0.24670	T	0.054	0.15330	0.126	0.03173	0.486060746414	0.48238	0.11690251812454044	0.11618	0.147494882439	0.16644	0.441005140543	0.30714	T	0.012364	0.10881	T	-0.424633	0.01599	T	-0.62203	0.11027	T	0.143349230289459	0.16560	T	0.630137	0.24490	T	0.059803247	0.12196	0.102209106	0.24491	0.059803247	0.12196	0.102209106	0.24490	-3.698	0.19289	T	.	.	0.070	0.03515	B	.	.	2.358658	0.30252	18.38	0.97531395014602462	0.34459	0.50241	0.28617	D	AEFDBCI	0.102037	0.20479	N	-0.39730705857094	0.25565	1.388695	-0.262559640643002	0.29342	1.643123	0.971728051254021	0.29311	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.530356	0.10902	0	.	.	3.79	3.79	0.42757	1.857000	0.39038	4.660000	0.44233	0.597000	0.34315	0.873000	0.30851	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	11.929	0.52119	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000515	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1104.83	34	chr19	49417448	.	C	T	1104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.75;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.487;SOR=0.788	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1115,0,1019	5	0	1	0
chr19	49446561	49446561	C	G	exonic	PIH1D1	.	nonsynonymous SNV	PIH1D1:NM_017916:exon8:c.G821C:p.R274P	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0223526205838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0005	1e-06	7.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.29959	T	0.046	0.49120	D	0.771	0.43934	P	0.434	0.45506	B	0.722590	0.09922	N	0.862774	1	0.08975	N	1.15	0.29295	L	2.12	0.19726	T	-2.82	0.59545	D	0.537	0.56576	-1.0247	0.22181	T	0.042	0.18035	T	10	0.12529069	0.23807	T	0.022353	0.45230	T	0.076	0.22200	0.569	0.69167	0.146414634003	0.14194	0.6257540570913488	0.62508	1.43342670029	0.85851	0.224201127887	0.01567	T	0.031058	0.21869	T	-0.170346	0.25182	T	-0.482466	0.24184	T	0.694711625576019	0.40467	D	0.70183	0.31167	T	0.8843854	0.90031	0.6486811	0.79451	0.8843854	0.90032	0.6486811	0.79452	-5.319	0.40131	T	.	.	0.266	0.50035	B	.;.;.	.;.;.	2.601198	0.33767	19.44	0.93547023566789456	0.23376	0.05308	0.11156	N	AEFBI	0.283268	0.39641	N	-0.740597128087105	0.14890	0.7456406	-0.898840516367826	0.12121	0.6216744	0.993929941494035	0.33413	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	3.88	-2.47	0.06070	-0.043000	0.11996	-2.911000	0.03238	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.0:0.4356:0.0:0.5644	7.660	0.27567	809	0.43032	PIH1 domain|PIH1 domain;PIH1 domain|PIH1 domain;PIH1 domain|PIH1 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	.	.	.	.	.	.	.	.	0.08333	943.83	53	chr19	49446561	.	C	G	943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.563;DP=333;ExcessHet=0;FS=1.662;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.247;SOR=0.802	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr19	49596837	49596837	-	CCACCT	exonic	PRR12	.	nonframeshift insertion	PRR12:NM_020719:exon4:c.2502_2503insCCACCT:p.P845_M846insPP	.	370	1149	2	0	1	3	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.112e-05	0	0	0	0	4.436e-05	0	0.0002	3.84e-05	1	26028	rs778541464	8.058e-05	8.218e-05	7.33e-05	8.794e-05	0.0004	6.838e-05	6.364e-05	0.0003	0.0002	0	0	0	0	0	0	7.044e-05	0.0001	0.0004	3.958e-05	3.944e-05	5.156e-05	2.702e-05	0.0004	1.721e-05	1.133e-05	7.327e-05	3.042e-05	0	0	0	0	0	0	0	5.894e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	724.79	35	chr19	49596837	.	G	GCCACCT	724.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.523;DP=218;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=0.609;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	1	0
chr19	49636675	49636675	C	T	exonic	RRAS	.	nonsynonymous SNV	RRAS:NM_006270:exon4:c.G397A:p.D133N	.	428	1090	4	0	0	4	0.0018315	.	.	.	468964	RRAS-related_disorder|not_provided|Noonan_syndrome|not_specified	.|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.414	0.161810927986	0.0045	0.00159744	0.0050	0.0008	0.0007	0	0.0032	0.0084	0.0022	0.0005	0.0049417	764	154602	rs61760904	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0007	0.0007	0.0030	0	0.0047	0.0017	0.0075	0.0044	0.0006	0.0038	0.0038	0.0040	0.0036	0.0072	0.0036	0.0035	0.0066	0.0064	0.0008	0	0.0008	0.0037	0	0.0023	0.0068	0.0072	0.0033	0	0.06	0.37326	T	0.038	0.51421	D	0.981	0.59675	D	0.582	0.50238	P	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	1	0.25136	L	-1.05	0.76690	T	-3.93	0.73267	D	0.509	0.54059	-0.3466	0.73652	T	0.302	0.67307	T	10	0.014026105	0.00296	T	0.161811	0.84152	D	0.414	0.72479	.	.	0.809169187268	0.80738	0.5122025962641442	0.51142	0.671510168274	0.59462	0.760585069656	0.76016	T	0.766728	0.93724	D	-0.414046	0.01869	T	-0.362257	0.37790	T	0.0364741424210464	0.03063	T	0.936706	0.76258	D	0.66410166	0.76118	0.36052197	0.61492	0.66410166	0.76119	0.36052197	0.61492	-6.396	0.49479	T	.	.	0.310	0.53747	B	.	.	4.637857	0.73806	26.1	0.99718392139845946	0.81843	0.93223	0.57646	D	AEFDBCI	0.800180	0.72623	D	0.120444003981777	0.47417	2.967731	0.0161660963154392	0.40465	2.415345	0.99999989140197	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.698795	0.65105	0	0.741806	0.99463	0	.	.	4.2	3.14	0.35196	7.274000	0.77928	5.805000	0.49965	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.833:0.167:0.0	12.766	0.56770	789	0.46346	Small GTP-binding protein 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1197.83	36	chr19	49636675	.	C	T	1197.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.986;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.113;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	5	0	1	0
chr19	49651191	49651202	GAGGAGGAAGAG	-	exonic	SCAF1	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.802_813del:p.E279_E282del	.	374	1145	1	0	2	3	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0	0.0001	0	0.0002	0	6.073e-05	3.84e-05	1	26028	rs777843290	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0003	2.236e-05	0	2.519e-05	1.88e-05	0.0005	0.0001	0.0001	5.797e-05	0.0001	0.0001	0.0002	8.205e-05	0.0002	7.694e-05	6.378e-05	0.0001	0.0001	0.0002	0	6.627e-05	0	0	0	0	8.913e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3350.79	35	chr19	49651190	.	TGAGGAGGAAGAG	T	3350.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.762;DP=393;ExcessHet=0;FS=5.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.196;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1109:.	5	0	1	0
chr19	49652125	49652125	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1736C:p.R579P	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.257635767119	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167768144	2.156e-05	2.059e-05	1.984e-05	2.341e-05	0.0005	1.385e-05	1.176e-05	0.0002	0.0001	0	0	0	0	0	0.0005	3.555e-06	0.0001	0.0003	1.391e-05	1.354e-05	1.354e-05	1.431e-05	0.0002	2.31e-06	8.7e-07	.	.	0	0	0	0	0	0	0	1.529e-05	0	0.0002	0.052	0.39097	T	0.356	0.17166	T	0.993	0.65571	D	0.505	0.47795	P	0.004977	0.33218	U	0.000000	0.999999	0.08975	N	0.975	0.24501	L	1.22	0.37052	T	-1.26	0.31778	N	0.405	0.44570	-1.0816	0.07041	T	0.051	0.21883	T	9	0.17090374	0.31779	T	0.257636	0.89377	D	0.116	0.32463	0.222	0.14518	0.0675242888579	0.06100	0.2137630445091126	0.21292	0.910846395249	0.71054	0.919822871685	0.98310	D	0.043342	0.26471	T	-0.161916	0.26466	T	-0.470358	0.25479	T	0.312102466821671	0.25500	T	0.327867	0.06820	T	0.3714667	0.58693	0.29650822	0.55683	0.3714667	0.58693	0.29650822	0.55683	-6.317	0.48856	T	.	.	0.151	0.33504	B	.	.	2.008341	0.25515	16.79	0.61948752472958823	0.06838	0.01511	0.04995	N	AEFDBI	0.057491	0.10712	N	-0.614253171945494	0.18515	0.9619042	-0.780191695882917	0.14981	0.7856017	0.50430562352623	0.20968	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	1.8	1.8	0.24069	0.437000	0.21261	9.631000	0.81127	0.489000	0.22316	0.010000	0.18352	1.000000	0.68203	0.076000	0.17014	0.3508:0.0:0.6492:0.0	4.055	0.09294	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002941	0.007937	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	260.18	25	chr19	49652125	.	G	C	260.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.321;DP=77;ExcessHet=0;FS=3.682;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.07;SOR=1.152	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,67	5	0	1	0
chr19	49690426	49690428	ACA	-	exonic	ADM5	.	nonframeshift deletion	ADM5:NM_001101340:exon2:c.395_397del:p.H132_I133delinsL	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2853.79	33	chr19	49690425	.	CACA	C	2853.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.227;DP=327;ExcessHet=0;FS=1.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=0.058;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	5	0	1	0
chr19	49876627	49876627	C	T	exonic	AKT1S1	.	nonsynonymous SNV	AKT1S1:NM_032375:exon1:c.G29A:p.G10E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0137411951474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239149623	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.09958	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.95	0.43279	T	0.46	0.03140	N	0.121	0.11197	-1.0301	0.20422	T	0.121	0.42079	T	6	0.112021685	0.20998	T	0.013741	0.33370	T	0.019	0.03383	0.168	0.07302	0.732080516103	0.72969	0.17919354784069766	0.17838	0.271769764214	0.29692	.	.	.	.	.	.	-0.181354	0.23533	T	-0.498279	0.22526	T	0.231015870888011	0.22000	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	-3.975	0.23428	T	.	.	0.081	0.08129	B	.	.	2.312250	0.29597	18.17	0.96144907350042585	0.28847	0.07978	0.13960	N	ALL	0.127828	0.24535	N	0.0707987605915805	0.45105	2.772608	0.118458884162329	0.45493	2.811502	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.16	4.13	0.47661	1.412000	0.34322	0.393000	0.17912	0.599000	0.40250	0.475000	0.26761	0.008000	0.19753	0.997000	0.79791	0.0:0.9029:0.0:0.0971	9.240	0.36650	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1185.83	33	chr19	49876627	.	C	T	1185.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.663;DP=255;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.533;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr19	49889981	49889981	C	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G1282A:p.E428K,IL4I1:NM_152899:exon8:c.G1393A:p.E465K,IL4I1:NM_001258017:exon10:c.G1459A:p.E487K,IL4I1:NM_001258018:exon10:c.G1459A:p.E487K,IL4I1:NM_172374:exon10:c.G1459A:p.E487K	.	429	1091	2	0	0	2	0.000915751	.	.	.	2295794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0902633784849	.	.	0.0004	0	0.0007	0	0	0.0008	0	0	0.0002717	42	154602	rs541635369	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0005	6.213e-05	0.0001	0.0008	0	0.0001	0.0009	0.0005	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0.0006	0	0	0	0.0006	0.0009	0.0002	0.405	0.22746	T	0.36	0.16964	T	0.05	0.22331	B	0.005	0.11217	B	0.237424	0.03559	N	1.607040	1	0.08975	N	1.61	0.41143	L	-3.03	0.92307	D	-0.88	0.23808	N	0.073	0.04790	-0.5235	0.67785	T	0.518	0.81966	D	10	0.028167963	0.00952	T	0.090263	0.75484	D	0.194	0.47447	.	.	0.462461958149	0.45873	0.8822674465442181	0.88194	1.16445027033	0.79578	0.378076732159	0.21982	T	0.491899	0.81608	T	-0.337852	0.05539	T	-0.356635	0.38443	T	0.0147849254961072	0.00310	T	0.69993	0.30971	T	0.12821737	0.29981	0.060128633	0.11399	0.12821737	0.29981	0.060128633	0.11398	-4.403	0.29961	T	.	.	0.080	0.16099	B	.;.;.	.;.;.	0.975362	0.13528	10.05	0.96524863973306152	0.30129	0.64407	0.32397	D	AEFDGBHCI	0.225864	0.34989	N	-1.04854299251634	0.07617	0.3544078	-1.08349512610685	0.08025	0.3928071	0.999999999973639	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.683535	0.66460	0	.	.	5.26	-1.29	0.08805	-0.249000	0.08861	0.156000	0.15349	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1418:0.4734:0.1381:0.2467	1.693	0.02683	633	0.64743	Amine oxidase;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003067	0.000000	0.004098	0.000000	0.000000	0.000000	0.003145	0.003817	0.08333	1229.83	35	chr19	49889981	.	C	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.464;DP=285;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.261;SOR=0.801	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1272	5	0	1	0
chr19	49958569	49958569	G	C	exonic	SIGLEC11	.	stopgain	SIGLEC11:NM_052884:exon8:c.C1365G:p.Y455X	.	397	1094	31	0	0	31	0.0139703	0.0001	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.844e-05	0	0	0	0	3.235e-05	0	0	3.84e-05	1	26028	rs773869337	1.271e-05	0.0013	1.118e-05	1.428e-05	2.65e-05	7.95e-06	6.56e-06	6.66e-06	5.13e-06	0	2.65e-05	0	0	1.948e-05	0	1.193e-05	1.719e-05	2.523e-05	0.0002	0.0043	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0002	0	0	0.0002	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005903	0.32413	N	0.142496	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308415	0.83624	D	0.20524	0.83412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.970865	0.95980	35	0.99364742905910408	0.61155	0.27032	0.23163	N	AEFDBI	0.347829	0.44217	N	0.385460505234018	0.60633	4.254436	0.0331304876469149	0.41264	2.476144	8.35550253576146E-5	0.04703	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.69	0.248	0.14786	0.248000	0.17971	-4.073000	0.02358	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.1561:0.0:0.5925:0.2514	3.402	0.06903	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	204.83	34	chr19	49958569	.	G	C	204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=311;ExcessHet=0;FS=32.923;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=-8.463;QD=1.67;ReadPosRankSum=-3.07;SOR=5.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,108,1280:.	5	0	1	0
chr19	49960404	49960404	C	G	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon3:c.G478C:p.D160H,SIGLEC11:NM_052884:exon3:c.G478C:p.D160H	.	421	1077	24	0	0	24	0.0110193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0042	0.00499201	0.0061	0.0016	0.0021	0	0.0136	0.0066	0.0101	0.0091	0.005084	786	154602	rs144427989	0.0043	0.0060	0.0041	0.0045	0.0088	0.0042	0.0042	0.0074	0.0072	0.0016	0.0030	0.0011	5.038e-05	0.0131	0.0088	0.0039	0.0048	0.0079	0.0053	0.0055	0.0048	0.0059	0.0081	0.0050	0.0049	0.0060	0.0054	0.0017	0.0055	0.0058	0.0006	0	0.0135	0.0069	0.0061	0.0040	0.0081	0.055	0.38407	T	0.097	0.43721	T	0.995	0.67487	D	0.968	0.71741	D	0.003498	0.34874	N	0.201199	1	0.08975	N	1.865	0.49290	L	3.97	0.03326	T	-4.74	0.80172	D	0.345	0.38643	-1.0378	0.17985	T	0.017	0.07045	T	10	0.012047231	0.00260	T	.	.	.	0.048	0.13305	.	.	0.295623431141	0.29171	0.36662965196216724	0.36576	2.64688053248	0.98432	0.326464056969	0.14400	T	0.041299	0.25811	T	-0.598975	0.00148	T	-0.627048	0.10640	T	0.0569233820789417	0.06675	T	0.784422	0.42203	T	0.1315014	0.30649	0.15962303	0.37218	0.1315014	0.30649	0.15962303	0.37217	-7.643	0.58611	D	.	.	0.354	0.57853	A	.;.	.;.	1.953549	0.24815	16.54	0.97460583614966334	0.34079	0.02722	0.07384	N	AEFBI	0.042872	0.06705	N	-0.407654010782869	0.25201	1.366258	-0.710024294911404	0.16711	0.8853059	8.44641291639182E-4	0.07902	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.28	-1.9	0.07248	0.474000	0.21858	-1.144000	0.06200	0.596000	0.33519	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	0.0:0.3358:0.4057:0.2585	3.862	0.08508	681	0.59854	Immunoglobulin-like 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	0.013815	0.000000	0.029973	0.004032	0.000000	0.000000	0.003067	0.011450	0.1667	4973.06	84	chr19	49960404	.	C	G	4973.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=671;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.32;MQRankSum=-1.062;QD=10.65;ReadPosRankSum=2.88;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,68:253:99:0|1:49960404_C_G:2238,0,7463:49960404	4	0	2	0
chr19	50359508	50359508	C	T	exonic	NAPSA	.	nonsynonymous SNV	NAPSA:NM_004851:exon7:c.G931A:p.G311R	.	415	1102	3	2	0	7	0.00316599	.	.	.	2394654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.0592814238826	.	0.000399361	0.0002	0.0006	0.0002	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs202120944	0.0001	0.0001	9.937e-05	0.0001	0.0009	9.334e-05	8.817e-05	0.0003	0.0002	0.0003	6.708e-05	3.826e-05	0	0	0.0009	9.442e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.692e-05	0.0001	0.0001	0.0003	0	6.53e-05	0	0	0	0.0034	0.0001	0.0014	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.056646	0.999994	0.81001	D	3.085	0.87354	M	1.31	0.35405	T	-7.77	0.95842	D	0.868	0.86511	-0.1588	0.78701	T	0.312	0.68184	T	10	0.9017468	0.89537	D	0.059281	0.67611	D	0.415	0.72555	0.757	0.88648	0.332386209738	0.32853	0.7934772421123852	0.79300	0.740897167152	0.63259	0.439828664064	0.30554	T	0.401849	0.75904	T	-0.197799	0.21122	T	-0.205745	0.54101	T	0.953537940979004	0.64049	D	0.924208	0.72277	D	0.8958862	0.91018	0.81613415	0.89291	0.8958862	0.91019	0.81613415	0.89292	-10.023	0.74050	D	.	.	0.216	0.44566	B	.	.	3.744125	0.53625	23.4	0.99886667268218221	0.96204	0.86691	0.46026	D	AEFDBCIJ	0.806087	0.73049	D	0.44890015385568	0.64140	4.662058	0.22427257307953	0.51197	3.304	0.999999998380895	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.76	3.76	0.42368	7.268000	0.77870	4.233000	0.42663	0.333000	0.19617	1.000000	0.71638	0.999000	0.35428	0.491000	0.28814	0.0:1.0:0.0:0.0	13.409	0.60376	645	0.63593	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	511.83	34	chr19	50359508	.	C	T	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.124;DP=205;ExcessHet=0;FS=1.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.277;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,100,1268:.	5	0	1	0
chr19	50454331	50454331	G	A	exonic	MYBPC2	.	stopgain	MYBPC2:NM_004533:exon18:c.G1976A:p.W659X	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0.0002	0	0	0.0004	0	0.0014	0.0003428	53	154602	rs201432361	0.0003	0.0003	0.0002	0.0003	0.0036	0.0003	0.0002	0.0024	0.0021	0	0.0002	0.0007	0	3.746e-05	0.0036	0.0002	0.0006	0.0016	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0003	0	0	0.0034	0.0003	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.002862	0.35804	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299576	0.82934	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.462229	0.99753	47	0.99737816710304616	0.83264	0.99008	0.89887	D	AEFBI	0.239093	0.36112	N	0.779616868943153	0.84816	8.394412	0.599427983177341	0.74899	6.216245	0.462213884776719	0.20634	0.615465	0.37627	0	0.633656	0.55848	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.47	3.47	0.38831	8.949000	0.92922	11.644000	0.93817	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	12.345	0.54442	867	0.32089	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1129.83	34	chr19	50454331	.	G	A	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=304;ExcessHet=0;FS=1.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-2.467;SOR=0.51	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	5	0	1	0
chr19	50716742	50716742	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon2:c.C178T:p.R60C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0500048798586	.	.	2.552e-05	0	0	0	0	4.6e-05	0	0	1.94e-05	3	154602	rs753526209	8.246e-06	8.893e-06	5.466e-06	1.106e-05	3.021e-05	4.4e-06	3.47e-06	5.32e-06	3.89e-06	3.021e-05	0	0	0	0	0	9.919e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.028	0.54934	D	1.0	0.90584	D	0.749	0.56004	P	0.485112	0.12121	U	0.580848	0.99667	0.43346	D	1.95	0.52479	M	1.16	0.39990	T	-3.89	0.72820	D	0.699	0.72388	-1.0611	0.11483	T	0.108	0.39197	T	10	0.56088513	0.64781	D	0.050005	0.64057	D	0.242	0.54781	0.423	0.46693	0.458321483586	0.45457	0.8860554725361093	0.88574	1.88169425926	0.92614	0.809607505798	0.83432	D	0.352375	0.71982	T	-0.0818675	0.39410	T	-0.245315	0.50278	T	0.882105588912964	0.53220	D	0.923508	0.72088	D	0.22091544	0.44657	0.23939824	0.49287	0.22091544	0.44657	0.23939824	0.49286	-5.288	0.40308	T	.	.	0.197	0.41888	B	.;.;.	.;.;.	4.688145	0.75090	26.3	0.99796673380073786	0.88194	0.73789	0.36093	D	AEFBI	0.419109	0.48647	N	0.168673184488479	0.49699	3.167353	0.152867591026258	0.47295	2.961809	0.923269733421468	0.26737	0.516011	0.20929	0	0.563428	0.19063	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	3.21	3.21	0.35933	3.397000	0.52317	8.271000	0.76889	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.783:0.217	9.224	0.36554	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	922.83	80	chr19	50716742	.	G	A	922.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.137;DP=258;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.067;SOR=0.514	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr19	51265852	51265852	C	A	exonic	SIGLECL1	.	nonsynonymous SNV	SIGLECL1:NM_001308437:exon3:c.C98A:p.A33E,SIGLECL1:NM_001385467:exon3:c.C98A:p.A33E,SIGLECL1:NM_001385465:exon4:c.C380A:p.A127E,SIGLECL1:NM_001385466:exon4:c.C380A:p.A127E,SIGLECL1:NM_173635:exon4:c.C380A:p.A127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0054223422371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.015	0.61642	D	0.996	0.68779	D	0.891	0.63213	P	0.247752	0.03626	N	1.625570	1	0.08975	N	1.925	0.51371	L	1.64	0.38883	T	-2.55	0.55181	D	0.558	0.58287	-0.9957	0.31109	T	0.216	0.57849	T	10	0.1645289	0.30777	T	0.005422	0.13923	T	0.150	0.39571	0.533	0.64148	0.0846915920261	0.08053	0.17067518528169465	0.16987	0.426954359613	0.43058	0.240986034274	0.02880	T	0.262438	0.63401	T	-0.139658	0.29947	T	-0.438385	0.28990	T	0.301649779081345	0.25072	T	0.410359	0.10588	T	0.20308323	0.42374	0.18695302	0.41899	0.20308323	0.42374	0.18695302	0.41898	-13.447	0.91120	D	.	.	0.630	0.76371	P	.;.;.;.	.;.;.;.	1.339115	0.17456	13.17	0.95639872266499193	0.27436	0.03396	0.08508	N	AEFBI	0.034502	0.04283	N	-0.602918951853386	0.18856	0.9823353	-0.778475954164352	0.15022	0.7880084	1.30212227885361E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.38	0.863	0.18199	-0.366000	0.07616	.	.	-0.796000	0.03208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5631:0.2137:0.2231	4.069	0.09352	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1003.83	60	chr19	51265852	.	C	A	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=295;ExcessHet=0;FS=4.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.242;SOR=1.315	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1014,0,728	5	0	1	0
chr19	51627974	51627974	G	-	exonic	SIGLEC5	.	frameshift deletion	SIGLEC5:NM_001384708:exon5:c.857delC:p.P286Lfs*3,SIGLEC5:NM_001384709:exon5:c.857delC:p.P286Lfs*3,SIGLEC5:NM_003830:exon5:c.857delC:p.P286Lfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1338.79	40	chr19	51627973	.	AG	A	1338.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.951;DP=308;ExcessHet=0;FS=4.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.01;SOR=0.368	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1288	5	0	1	0
chr19	51629968	51629968	C	T	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon2:c.G286A:p.V96I,SIGLEC5:NM_001384709:exon2:c.G286A:p.V96I,SIGLEC5:NM_003830:exon2:c.G286A:p.V96I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0126827061652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.298	0.20486	T	0.041	0.21357	B	0.031	0.21939	B	0.995939	0.07933	N	1.002490	1	0.08975	N	0.785	0.19527	N	-0.13	0.64818	T	-0.72	0.20358	N	0.051	0.02272	-1.0253	0.21985	T	0.102	0.37669	T	10	0.06012854	0.07337	T	0.012683	0.31464	T	0.140	0.37593	0.401	0.43081	0.154104182512	0.14974	0.05917297832194051	0.05857	.	.	0.25449860096	0.04256	T	0.035911	0.23900	T	-0.298388	0.08812	T	-0.66639	0.07841	T	0.0679661692695241	0.08363	T	0.181182	0.01822	T	0.18696013	0.40129	0.06426871	0.12854	0.18696013	0.40128	0.06426871	0.12854	-3.473	0.16056	T	.	.	0.087	0.11269	B	.;.	.;.	-0.046369	0.03975	0.895	0.83429197041188208	0.14721	0.00730	0.03063	N	AEFGBI	0.019633	0.00699	N	-1.38365482489561	0.02791	0.1237452	-1.47545172046839	0.02547	0.1173305	0.903639048819785	0.26158	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.15	-4.67	0.03080	-0.441000	0.06951	.	.	-1.060000	0.01619	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.282:0.139:0.2665:0.3125	0.259	0.00200	982	0.03397	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	30.06	15	chr19	51629968	.	C	T	30.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.383;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=21;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.383;SOR=0.105	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	2	0	1	3
chr19	51704308	51704308	G	T	exonic	SPACA6	.	nonsynonymous SNV	SPACA6:NM_001316972:exon8:c.G769T:p.A257S,SPACA6:NM_001316994:exon8:c.G646T:p.A216S	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs112367898	0.0009	0.0004	0.0011	0.0007	0.0214	0.0008	0.0007	0.0187	0.0176	0.0214	0.0013	0	0	0	0.0017	4.428e-05	0.0022	0	0.0060	0.0060	0.0062	0.0058	0.0212	0.0056	0.0055	0.0200	0.0195	0.0212	0	0.0012	0	0	0	0	1.47e-05	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027697384	0.00043	T	.	.	.	.	.	.	.	.	.	0.15614568355325079	0.15535	.	.	.	.	.	0.009398	0.08559	T	.	.	.	.	.	.	.	.	.	0.294271	0.05429	T	0.028655265	0.02237	0.0609794	0.11703	0.028655265	0.02237	0.0609794	0.11702	-4.166	0.26257	T	.	.	0.092	0.13644	B	.	.	-0.244449	0.02871	0.407	0.67502602878749796	0.08374	0.07114	0.13139	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999989	0.74766	0.075627	0.01787	0	0.073863	0.01883	0	0.067829	0.01913	2	0.143876	0.04018	0	0.053891	0.12063	4.03	0.764	0.17611	0.051000	0.14025	.	.	-0.980000	0.01901	0.022000	0.19841	0.000000	0.08366	0.002000	0.04165	0.3567:0.0:0.6433:0.0	5.556	0.16402	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.83	39	chr19	51704308	.	G	T	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.081;DP=204;ExcessHet=0;FS=5.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.825;SOR=0.966	GT:AD:DP:GQ:PL	0/1:19,13:32:99:360,0,522	5	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.83	122	chr19	51746559	.	T	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.2;DP=723;ExcessHet=0;FS=117.932;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.853;SOR=6.932	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	5	0	1	0
chr19	52366453	52366453	C	A	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161427:exon5:c.C946A:p.L316I,ZNF610:NM_001161425:exon6:c.C1075A:p.L359I,ZNF610:NM_001161426:exon6:c.C1075A:p.L359I,ZNF610:NM_173530:exon6:c.C1075A:p.L359I	.	6	1479	36	1	0	38	0.0126836	.	.	.	2818715	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0022	0.00399361	0.0037	0.0006	0.0028	0.0001	0.0002	0.0032	0.0011	0.0117	0.0034282	530	154602	rs144352698	0.0030	0.0030	0.0027	0.0034	0.0123	0.0030	0.0029	0.0117	0.0114	0.0005	0.0019	0.0036	5.038e-05	0.0005	0.0088	0.0026	0.0029	0.0123	0.0021	0.0022	0.0019	0.0024	0.0108	0.0020	0.0019	0.0084	0.0076	0.0004	0	0.0019	0.0040	0	0.0003	0	0.0030	0.0033	0.0108	0.01	0.56456	D	0.0	0.92824	D	0.998	0.73220	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.405	0.69568	M	0.6	0.53731	T	-1.88	0.43906	N	0.168	0.33469	-0.8260	0.53556	T	0.268	0.63897	T	9	0.006195247	0.00140	T	.	.	.	0.138	0.37187	.	.	0.357313475932	0.35345	0.07897813581120881	0.07832	0.667473376711	0.59254	0.455513358116	0.32697	T	0.124539	0.44965	T	-0.40798	0.02050	T	-0.348423	0.39386	T	0.0223659140996602	0.00950	T	0.788921	0.42853	T	0.12749851	0.29834	0.083505414	0.19142	0.12749851	0.29833	0.083505414	0.19142	-8.607	0.65962	D	.	.	0.516	0.65305	A	.;.;.;.;.;.	.;.;.;.;.;.	2.572912	0.33343	19.31	0.99012663866753703	0.50399	0.11661	0.16780	N	AEFBHCI	0.088810	0.18004	N	-0.141584637305298	0.35594	2.046453	-0.471755429597885	0.22935	1.248259	5.98424221339833E-4	0.07414	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	1.69	1.69	0.23290	1.044000	0.29939	.	.	0.502000	0.22824	0.851000	0.30461	0.000000	0.08366	0.014000	0.10232	0.0:0.817:0.0:0.183	5.980	0.18633	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;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	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.018939	0.08333	1770.83	52	chr19	52366453	.	C	A	1770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.249;DP=407;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.813;SOR=0.542	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	5	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCAT	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCAT:p.K415_R577delinsS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29e-05	0.0003	3.985e-05	2.588e-05	0.0002	2.522e-05	2.256e-05	2.377e-05	1.653e-05	3.129e-05	2.347e-05	8.017e-05	0	0.0001	0.0002	2.726e-05	0	6.081e-05	0.0008	0.0031	0.0009	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0008	0	0.0007	0.0006	0.0002	0.0007	0.0039	0.0008	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	716.15	71	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCAT	716.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=360;ExcessHet=3.1439;FS=77.743;MLEAC=1;MLEAF=0.083;MQ=59.51;MQRankSum=0;QD=2.73;ReadPosRankSum=-2.263;SOR=6.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,0:85:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:374,588,3550:52384817	5	0	1	0
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39.85	79	chr19	52384824	.	A	AGGTC	39.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.28;DP=345;ExcessHet=0;FS=8.365;MLEAC=1;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=0.68;ReadPosRankSum=-1.413;SOR=3.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800:.	2	0	1	3
chr19	52415946	52415946	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1094A:p.R365H	.	400	1067	54	1	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0062	0.00698882	0.0109	0.0007	0.0039	0	0.0210	0.0096	0.0233	0.0282	0.0098382	1521	154602	rs142156816	0.0085	0.0085	0.0077	0.0093	0.0260	0.0084	0.0083	0.0251	0.0247	0.0014	0.0039	0.0280	2.519e-05	0.0226	0.0258	0.0065	0.0106	0.0260	0.0074	0.0074	0.0064	0.0085	0.0237	0.0071	0.0069	0.0202	0.0188	0.0011	0	0.0042	0.0289	0.0002	0.0231	0.0342	0.0078	0.0081	0.0237	0.176	0.22312	T	0.546	0.09555	T	0.956	0.54666	P	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	1.54	0.30133	T	0.51	0.02898	N	0.028	0.00618	-1.0120	0.26291	T	0.023	0.09968	T	9	0.004389435	0.00089	T	.	.	.	0.132	0.35948	.	.	.	.	0.015923970449232903	0.01548	0.00915006470918	0.00832	0.254826724529	0.04293	T	0.00476	0.04174	T	-0.595046	0.00156	T	-0.607922	0.12154	T	0.0049661892188208	0.00053	T	0.127587	0.00998	T	0.03501476	0.04041	0.037924096	0.03550	0.03501476	0.04041	0.037924096	0.03549	-4.929	0.36060	T	.	.	0.197	0.41947	B	.	.	1.344308	0.17510	13.21	0.30149128901172884	0.01635	0.04522	0.10151	N	AEFBCI	0.029627	0.02830	N	-0.797295779312745	0.13380	0.6587443	-0.993186387495532	0.09937	0.4973981	9.35688065139829E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.08	-0.657	0.10858	-0.925000	0.04100	.	.	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1644:0.229:0.6066:0.0	4.592	0.11703	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	861.83	35	chr19	52415946	.	G	A	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.93;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.69;SOR=0.687	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	5	0	1	0
chr19	52437820	52437820	G	C	exonic	ZNF534	.	nonsynonymous SNV	ZNF534:NM_001351679:exon4:c.G276C:p.W92C,ZNF534:NM_001143938:exon5:c.G360C:p.W120C,ZNF534:NM_001143939:exon5:c.G399C:p.W133C	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.001391624752	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs202068094	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	0.0001	0	0	0	0.0021	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	5.374e-05	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	6.542e-05	0	0	0	0.0136	0.0003	0	0.0002	0.077	0.47320	T	0.171	0.33554	T	0.873	0.56581	P	0.153	0.46845	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.29	0.06681	T	-0.16	0.09460	N	0.267	0.30233	-0.9811	0.34748	T	0.016	0.06473	T	9	0.055442452	0.06060	T	0.001392	0.02037	T	0.051	0.14325	0.444	0.50139	0.21737058555	0.21362	0.04925491404905237	0.04868	0.30691389174	0.32998	0.241959407926	0.02969	T	0.004075	0.03483	T	-0.498885	0.00580	T	-0.638234	0.09799	T	0.00845489685752844	0.00102	T	0.0241976	0.00146	T	0.07756127	0.17610	0.07106785	0.15175	0.07756127	0.17610	0.07106785	0.15175	-4.34	0.31512	T	.	.	0.229	0.50781	B	.;.	.;.	2.256250	0.28821	17.92	0.86020776751294925	0.16262	0.01154	0.04169	N	AEFI	0.049791	0.08637	N	-0.699454719231392	0.16038	0.8135897	-0.890320386445775	0.12323	0.6331872	1.39745870286967E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.1	0.00962	0.13401	-0.120000	0.10633	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2237:0.0:0.7763:0.0	4.999	0.13601	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.1667	3252.04	35	chr19	52437820	.	G	C	3252.04	.	AC=2;AF=0.167;AN=12;DP=283;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.11;SOR=1.232	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1380	5	1	0	0
chr19	52800403	52800403	T	A	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A1283T:p.H428L,ZNF28:NM_001369763:exon4:c.A1433T:p.H478L,ZNF28:NM_001369764:exon4:c.A1400T:p.H467L,ZNF28:NM_006969:exon4:c.A1442T:p.H481L,ZNF28:NM_001369765:exon5:c.A1334T:p.H445L	.	410	1106	6	0	0	6	0.00270514	.	.	.	2818722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.000550107029034	0.0034	0.00139776	0.0024	0.0003	0.0004	0.0001	0.0030	0.0038	0	0.0003	0.0024126	373	154602	rs150655137	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0050	0.0050	0.0007	0.0010	0.0010	0	0.0028	0.0003	0.0052	0.0055	0.0004	0.0034	0.0034	0.0034	0.0033	0.0056	0.0031	0.0031	0.0052	0.0050	0.0007	0.0285	0.0017	0.0020	0	0.0038	0	0.0056	0.0019	0.0002	0.611	0.05452	T	0.444	0.13177	T	0.293	0.32367	B	0.05	0.25278	B	.	.	.	.	1	0.08975	N	0.865	0.21413	L	2.62	0.12988	T	-3.3	0.76015	D	0.126	0.15888	-0.9577	0.39608	T	0.009	0.03448	T	9	0.012247592	0.00264	T	5.5E-4	0.00208	T	0.014	0.01968	.	.	0.137902524267	0.13322	0.036115584478645026	0.03558	0.0452910881258	0.04909	0.400193810463	0.25095	T	0.071937	0.34332	T	-0.642701	0.00080	T	-0.695018	0.06102	T	0.00970683407023128	0.00127	T	0.10009	0.00753	T	0.11347346	0.26799	0.07909334	0.17775	0.11347346	0.26799	0.07909334	0.17775	-7.013	0.54832	T	.	.	0.555	0.69632	A	.;.;.	.;.;.	-0.483955	0.01920	0.161	0.74596158043106819	0.10754	0.00958	0.03679	N	AEFBHCI	0.055037	0.10058	N	-1.33228747607796	0.03312	0.1477233	-1.38623624778448	0.03398	0.1584144	3.46726401621814E-4	0.06626	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.74	1.74	0.23636	-4.587000	0.00244	.	.	-1.384000	0.01157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2575:0.0:0.0:0.7425	5.226	0.14716	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001587	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1942.83	123	chr19	52800403	.	T	A	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=633;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.65;MQRankSum=0.041;QD=14.08;ReadPosRankSum=-0.27;SOR=0.693	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	5	0	1	0
chr19	53142167	53142167	A	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.T664G:p.S222A,ZNF347:NM_001172675:exon5:c.T664G:p.S222A,ZNF347:NM_032584:exon5:c.T661G:p.S221A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00373069737982	0.0024	0.00159744	0.0022	0.0002	0.0006	0	0.0003	0.0033	0.0011	0.0018	0.0020051	310	154602	rs150054471	0.0021	0.0022	0.0021	0.0022	0.0114	0.0021	0.0021	0.0092	0.0084	0.0006	0.0011	0.0165	0	0.0002	0.0114	0.0020	0.0032	0.0020	0.0016	0.0016	0.0016	0.0016	0.0020	0.0014	0.0014	0.0018	0.0017	0.0004	0	0.0009	0.0147	0	0.0002	0.0136	0.0020	0.0038	0.0017	0.082	0.33254	T	0.334	0.18340	T	0.158	0.28271	B	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0.635	0.15989	N	3.21	0.07236	T	-2.26	0.50502	N	0.093	0.11769	-0.9214	0.45362	T	0.011	0.04369	T	9	0.0068825185	0.00156	T	0.003731	0.08651	T	0.013	0.01715	.	.	0.231231049324	0.22751	0.0212500144251586	0.02078	0.012742868649	0.01221	0.240050345659	0.02795	T	0.054427	0.29721	T	-0.666017	0.00058	T	-0.734702	0.04118	T	0.00338177271763022	0.00036	T	0.00856581	0.00040	T	0.11399232	0.26916	0.09214802	0.21700	0.11399232	0.26916	0.09214802	0.21700	-4.684	0.33210	T	.	.	0.079	0.07650	B	.;.;.	.;.;.	1.087805	0.14711	11.26	0.92995168697219244	0.22582	0.04342	0.09906	N	AEFBI	0.024031	0.01424	N	-1.17339779680434	0.05405	0.2463305	-1.2191213321586	0.05603	0.26742	3.51835075321682E-4	0.06668	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.45	1.4	0.21393	-0.357000	0.07702	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8474:0.0:0.1526:0.0	5.199	0.14576	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.005051	0.010870	0.020468	0.000000	0.051724	0.009146	0.007576	0.08333	1529.83	42	chr19	53142167	.	A	C	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=304;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.822;SOR=0.787	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr19	53165498	53165498	G	A	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.C992T:p.S331L,ZNF665:NM_024733:exon4:c.C992T:p.S331L,ZNF665:NM_001353457:exon5:c.C986T:p.S329L,ZNF665:NM_001353458:exon5:c.C1076T:p.S359L	.	.	.	.	.	.	.	.	.	.	.	2702231	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00261188710475	0.0010	0.000399361	0.0005	0.0005	0.0002	0	0	0.0008	0	6.06e-05	0.0005821	90	154602	rs200045588	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0004	0.0002	7.652e-05	0	3.744e-05	0	0.0010	0.0006	9.275e-05	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0004	0.0007	0.0006	0.0005	0	0.0003	0	0	0	0	0.0009	0.0010	0.0002	0.028	0.46129	D	0.06	0.54541	T	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	1.995	0.54099	M	4.68	0.36512	T	-5.5	0.85844	D	0.132	0.21710	-1.0703	0.09348	T	0.021	0.09009	T	9	0.049812794	0.04624	T	0.002612	0.05292	T	0.122	0.33800	.	.	0.48461828368	0.48093	0.02539323670896183	0.02490	0.139046298873	0.15679	0.346772074699	0.17445	T	0.066589	0.32983	T	-0.606921	0.00132	T	-0.650744	0.08903	T	0.0920859417425981	0.11462	T	0.720928	0.33404	T	0.23954272	0.46846	0.21967684	0.46716	0.23954272	0.46846	0.21967684	0.46715	.	.	.	.	.	0.576	0.67882	P	.;.	.;.	2.738413	0.35860	20.1	0.99523667409603511	0.69407	0.00381	0.01927	N	AEFBCI	0.047537	0.08015	N	-0.294747949258787	0.29350	1.626858	-0.631485244727295	0.18686	0.9993209	8.79051140840041E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.26	-0.104	0.12943	0.257000	0.18137	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2583:0.0:0.7417:0.0	6.922	0.23576	994	0.00715	.;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	0.001057	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1695.83	85	chr19	53165498	.	G	A	1695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.714;DP=561;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.25;SOR=0.852	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1706,0,2019	5	0	1	0
chr19	53175481	53175481	C	A	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon3:c.G106T:p.V36F,ZNF665:NM_024733:exon3:c.G106T:p.V36F,ZNF665:NM_001353457:exon4:c.G100T:p.V34F,ZNF665:NM_001353458:exon4:c.G190T:p.V64F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.002191614004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.978168	0.25266	N	.	.	.	3.73	0.03982	T	-4.29	0.76414	D	0.743	0.74280	-1.1268	0.01941	T	0.042	0.18160	T	8	0.91833746	0.91191	D	0.002192	0.04124	T	0.102	0.29158	0.773	0.89924	0.587357208644	0.58409	0.27266286059143896	0.27179	0.240067210854	0.26555	0.415126413107	0.27165	T	.	.	.	-0.168792	0.25418	T	-0.480235	0.24421	T	0.9617342156123	0.66166	D	0.572243	0.20426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.76425	P	.	.	2.170676	0.27664	17.54	0.99253817899479113	0.56957	0.41580	0.26689	N	AEFBI	0.099685	0.20061	N	0.00572404316688088	0.42114	2.531507	-0.203545390909617	0.31407	1.77724	9.11325742557965E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.67	2.67	0.30756	0.545000	0.22976	.	.	0.473000	0.21965	0.217000	0.24502	0.000000	0.08366	0.238000	0.22948	0.0:1.0:0.0:0.0	11.073	0.47231	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1508.83	40	chr19	53175481	.	C	A	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=302;ExcessHet=0;FS=4.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.029;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	5	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.08333	41.84	80	chr19	53267316	.	G	C	41.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.153;DP=471;ExcessHet=0;FS=3.377;MLEAC=1;MLEAF=0.083;MQ=51.64;MQRankSum=-6.83;QD=0.32;ReadPosRankSum=1.4;SOR=0.427	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	5	0	1	0
chr19	53483827	53483827	C	T	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon2:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.689179508326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.004	0.76473	D	0.982	0.60036	D	0.743	0.55802	P	.	.	.	.	1	0.08975	N	1.215	0.30540	L	5.65	0.00784	T	-2.6	0.62343	D	0.1	0.08227	-0.8074	0.54706	T	0.005	0.01506	T	9	0.33430043	0.50606	T	0.68918	0.97438	D	0.025	0.05312	0.385	0.40460	0.148003135375	0.14442	0.07435378112532652	0.07371	1.75945580792	0.91105	0.425286769867	0.28564	T	0.017	0.14140	T	-0.231689	0.16426	T	-0.570581	0.15397	T	0.655984938144684	0.38720	D	0.89971	0.64861	D	0.12510775	0.29336	0.19219728	0.42720	0.12510775	0.29336	0.19219728	0.42719	-6.892	0.53240	T	.	.	0.190	0.58523	B	.;.	.;.	2.088215	0.26565	17.16	0.996325333951387	0.76142	0.00940	0.03632	N	AEFBI	0.029206	0.02714	N	-0.590221022432901	0.19240	1.005443	-0.846313819410115	0.13377	0.6935679	2.32167131152516E-5	0.03498	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	0.458	0.458	0.15882	0.330000	0.19460	.	.	0.446000	0.21189	0.308000	0.25396	0.000000	0.08366	0.036000	0.13842	0.0:0.9999:0.0:1.0E-4	6.627	0.22026	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2323.83	70	chr19	53483827	.	C	T	2323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.179;DP=420;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.083;MQ=54.23;MQRankSum=1.36;QD=11.74;ReadPosRankSum=-0.504;SOR=0.605	GT:AD:DP:GQ:PL	0/1:111,87:198:99:2334,0,3040	5	0	1	0
chr19	53889918	53889918	C	A	exonic	PRKCG	.	nonsynonymous SNV	PRKCG:NM_001316329:exon5:c.C430A:p.R144S,PRKCG:NM_002739:exon5:c.C430A:p.R144S	Spinocerebellar ataxia 14, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.21112636273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.683	0.15157	T	0.003	0.11197	B	0.022	0.19653	B	.	.	.	.	0.561973	0.32221	D	0.985	0.24966	L	-1.73	0.92508	D	-1.16	0.29727	N	0.433	0.47208	-0.2937	0.75161	T	0.476	0.79888	T	9	0.25493133	0.42878	T	0.211126	0.87288	D	0.222	0.51872	0.566	0.68768	0.795802369688	0.79389	0.7883656269140877	0.78788	1.64341078447	0.89404	0.577728331089	0.49766	T	0.090765	0.85234	T	0.044874	0.57680	T	-0.173318	0.57138	T	0.260306963395538	0.23328	T	0.874313	0.60664	D	0.20281671	0.42338	0.24809207	0.50353	0.20281671	0.42338	0.24809207	0.50352	-4.136	0.25819	T	0.09819995442897128	0.06994	0.177	0.39511	B	.;.;.;.	.;.;.;.	3.848360	0.55733	23.6	0.98499709983655581	0.42204	0.30674	0.24143	N	AEFDGBHCI	0.283481	0.39657	N	-0.472407965271318	0.22987	1.23132	-0.281272808146299	0.28715	1.603198	0.999999998067882	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.52208	0.10781	0	0.604944	0.38103	0	.	.	4.74	3.68	0.41359	1.934000	0.39793	.	.	0.597000	0.34315	0.968000	0.34134	1.000000	0.68203	0.998000	0.85391	0.178:0.6498:0.1721:0.0	8.279	0.31050	994	0.00715	.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	399.83	35	chr19	53889918	.	C	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=203;ExcessHet=0;FS=3.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.775;SOR=0.518	GT:AD:DP:GQ:PL	0/1:13,17:30:99:410,0,238	5	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	353.99	43	chr19	54221344	.	C	CCGG	353.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.35;DP=278;ExcessHet=1.383;FS=58.304;MLEAC=3;MLEAF=0.25;MQ=32.77;MQRankSum=3.52;QD=3.03;ReadPosRankSum=-1.842;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	3	0	3	0
chr19	54221348	54221348	-	ACTG	exonic	LILRB3	.	frameshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCAGT:p.Q231Sfs*19,LILRB3:NM_001320960:exon5:c.689_690insCAGT:p.L230fs,LILRB3:NM_006864:exon5:c.689_690insCAGT:p.K230Nfs*26	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.248e-05	0.0006	2.434e-05	2.058e-05	0.0002	1.611e-05	1.404e-05	0.0001	7.587e-05	0.0001	0.0002	4.099e-05	0.0001	0	0	1.308e-05	1.765e-05	0	1.354e-05	0.0012	0	2.771e-05	6.793e-05	2.25e-06	8.4e-07	.	.	2.549e-05	0	6.793e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	143.66	42	chr19	54221348	.	C	CACTG	143.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.938;DP=272;ExcessHet=1.383;FS=41.196;MLEAC=1;MLEAF=0.083;MQ=33.25;MQRankSum=3.07;QD=1.32;ReadPosRankSum=-2.426;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	5	0	1	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.689_690insCTCAGT:p.L230delinsLSV,LILRB3:NM_006864:exon5:c.689_690insCTCAGT:p.K230_L604delinsNSVPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	143.66	42	chr19	54221348	.	C	CACTGAG	143.66	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.938;DP=272;ExcessHet=1.383;FS=41.196;MLEAC=2;MLEAF=0.167;MQ=33.25;MQRankSum=3.07;QD=1.32;ReadPosRankSum=-2.426;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	4	0	2	0
chr19	54241869	54241869	C	T	exonic;splicing	LILRA6;LILRA6	NM_001360167:exon4:c.357-1G>A	nonsynonymous SNV	LILRA6:NM_024318:exon4:c.G365A:p.S122N	.	58	167	0	1	0	2	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1132595	8.881e-05	0.0068	9.456e-05	8.292e-05	0.0004	7.464e-05	6.974e-05	0.0002	0.0002	9.437e-05	7.548e-05	0	0.0004	0.0002	0.0003	7.421e-05	0.0001	5.035e-05	0.0001	0.0015	0.0001	0.0001	0.0004	5.963e-05	4.69e-05	7.325e-05	3.87e-05	8.289e-05	0	0.0003	0	0	0.0001	0	8.287e-05	0	0.0004	.	.	.	0.367	0.16619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06059	.	.	.	.	.	.	.	0.043040156	0.03113	T	.	.	.	.	.	.	.	.	.	0.10471436767554826	0.10401	.	.	.	.	.	0.021857	0.16951	T	.	.	.	.	.	.	.	.	.	0.0291971	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.20547	B	.;.	.;.	-0.872101	0.00973	0.039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.183000	0.00316	.	.	-0.521000	0.04978	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.2	206.87	30	chr19	54241869	.	C	T	206.87	.	AC=2;AF=0.2;AN=10;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=33.24;QD=29.12;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800:.	4	1	0	1
chr19	54274725	54274725	-	GAG	exonic	LILRB2	.	nonframeshift insertion	LILRB2:NM_001278404:exon13:c.1406_1407insCTC:p.P469delinsPS,LILRB2:NM_001080978:exon14:c.1751_1752insCTC:p.P584_P585insS,LILRB2:NM_001278403:exon14:c.1751_1752insCTC:p.P584delinsPS,LILRB2:NM_005874:exon14:c.1754_1755insCTC:p.P585_P586insS	.	9	1500	9	4	0	17	0.00563474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs771433769	0.0022	0.0035	0.0013	0.0030	0.0283	0.0021	0.0021	0.0274	0.0270	0.0001	0.0008	0	0.0046	3.744e-05	0.0046	0.0004	0.0022	0.0283	0.0022	0.0031	0.0016	0.0028	0.0460	0.0020	0.0019	0.0410	0.0390	0.0003	0	0.0009	0	0.0039	9.436e-05	0.0068	0.0011	0.0010	0.0460	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	189.79	34	chr19	54274725	.	A	AGAG	189.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=249;ExcessHet=0;FS=8.249;MLEAC=1;MLEAF=0.083;MQ=57.61;MQRankSum=-8.151;QD=2.79;ReadPosRankSum=0.335;SOR=2.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	5	0	1	0
chr19	54274728	54274729	TT	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1403_1404del:p.E468fs,LILRB2:NM_001080978:exon14:c.1748_1749del:p.E583Afs*4,LILRB2:NM_001278403:exon14:c.1748_1749del:p.E583fs,LILRB2:NM_005874:exon14:c.1751_1752del:p.E584Afs*4	.	10	1499	9	4	0	17	0.00563847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs781576541	0.0023	0.0035	0.0014	0.0032	0.0305	0.0022	0.0022	0.0295	0.0291	0.0001	0.0009	0	0.0048	3.744e-05	0.0051	0.0004	0.0022	0.0305	0.0023	0.0031	0.0017	0.0029	0.0485	0.0021	0.0020	0.0433	0.0413	0.0003	0	0.0009	0	0.0039	9.423e-05	0.0068	0.0011	0.0014	0.0485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	215.79	34	chr19	54274727	.	GTT	G	215.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.67;DP=252;ExcessHet=0;FS=7.495;MLEAC=1;MLEAF=0.083;MQ=57.67;MQRankSum=-8.328;QD=3.04;ReadPosRankSum=0.462;SOR=1.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	5	0	1	0
chr19	54274733	54274733	T	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1399delA:p.R467fs,LILRB2:NM_001080978:exon14:c.1744delA:p.R582Gfs*68,LILRB2:NM_001278403:exon14:c.1744delA:p.R582fs,LILRB2:NM_005874:exon14:c.1747delA:p.R583Gfs*68	.	9	1501	8	4	0	16	0.00530152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0.0002	0	0	6.094e-05	.	.	.	rs745907042	0.0024	0.0034	0.0015	0.0034	0.0321	0.0024	0.0023	0.0311	0.0307	0.0002	0.0009	0	0.0049	3.744e-05	0.0052	0.0004	0.0024	0.0321	0.0024	0.0031	0.0018	0.0030	0.0488	0.0022	0.0021	0.0436	0.0416	0.0003	0	0.0009	0	0.0045	9.427e-05	0.0068	0.0011	0.0014	0.0488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	215.79	34	chr19	54274732	.	CT	C	215.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=253;ExcessHet=0;FS=7.495;MLEAC=1;MLEAF=0.083;MQ=57.7;MQRankSum=-8.328;QD=3.04;ReadPosRankSum=0.248;SOR=1.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	5	0	1	0
chr19	54278950	54278950	G	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C469A:p.Q157K,LILRB2:NM_001278405:exon5:c.C817A:p.Q273K,LILRB2:NM_001278406:exon5:c.C817A:p.Q273K,LILRB2:NM_001080978:exon6:c.C817A:p.Q273K,LILRB2:NM_001278403:exon6:c.C817A:p.Q273K,LILRB2:NM_005874:exon6:c.C817A:p.Q273K	.	0	1478	44	0	0	44	0.0146667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00444735723942	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs201709101	6.165e-06	0.0007	5.45e-06	6.888e-06	0.0004	2.9e-06	2.1e-06	6.165e-05	2.548e-05	2.987e-05	0	0	0	0	0.0004	8.995e-07	0	5.897e-05	0.0001	0.0018	7.729e-05	0.0002	0.0038	8.192e-05	6.744e-05	0.0024	0.0020	0	0	0	0	0.0004	0	0	0	0	0.0038	0.047	0.40319	D	0.079	0.42086	T	.	.	.	.	.	.	0.900648	0.07353	N	1.065300	1	0.08975	N	.	.	.	5.72	0.00726	T	-3.62	0.69714	D	0.176	0.21319	-0.9320	0.43844	T	0.009	0.03403	T	10	0.06828326	0.09636	T	0.004447	0.10906	T	0.061	0.17616	.	.	0.311079019809	0.30711	0.04552665434673201	0.04496	0.221205106065	0.24664	0.411096394062	0.26609	T	.	.	.	-0.253024	0.13731	T	-0.601228	0.12709	T	0.971119940280914	0.69196	D	0.632737	0.24712	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15206	B	.;.;.;.;.	.;.;.;.;.	2.311784	0.29597	18.17	0.96721488082963725	0.30851	0.01934	0.05894	N	AEFDBI	0.072394	0.14447	N	-0.245528290576299	0.31282	1.752521	-0.525168471432828	0.21471	1.16165	0.999956063135862	0.48110	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.31	1.1	0.19578	0.324000	0.19357	.	.	0.612000	0.49041	0.001000	0.13787	.	.	0.009000	0.08673	0.0:0.2898:0.7102:0.0	6.961	0.23775	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	320.83	130	chr19	54278950	.	G	T	320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=821;ExcessHet=0;FS=4.434;MLEAC=1;MLEAF=0.083;MQ=56.22;MQRankSum=-8.946;QD=1.57;ReadPosRankSum=1.85;SOR=1.202	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	5	0	1	0
chr19	54278953	54278953	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C466T:p.P156S,LILRB2:NM_001278405:exon5:c.C814T:p.P272S,LILRB2:NM_001278406:exon5:c.C814T:p.P272S,LILRB2:NM_001080978:exon6:c.C814T:p.P272S,LILRB2:NM_001278403:exon6:c.C814T:p.P272S,LILRB2:NM_005874:exon6:c.C814T:p.P272S	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	.	8.243e-06	0	0	0	0	0	0	6.056e-05	2.59e-05	4	154602	rs199893740	1.028e-05	0.0007	5.451e-06	1.516e-05	0.0009	6.17e-06	4.89e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	0	0	0.0001	0.0002	0.0018	0.0001	0.0002	0.0045	0.0001	9.265e-05	0.0030	0.0025	0	0	0	0	0.0004	0	0	2.946e-05	0	0.0045	0.123	0.27544	T	0.338	0.21947	T	.	.	.	.	.	.	0.441722	0.04764	N	1.421900	1	0.08975	N	.	.	.	5.88	0.00632	T	-4.16	0.76822	D	0.07	0.05162	-0.9828	0.34351	T	0.003	0.00897	T	10	0.020472646	0.00472	T	.	.	.	0.018	0.03083	.	.	0.15556083564	0.15200	0.048492907628059675	0.04792	0.0632635586306	0.07043	0.329334050417	0.14833	T	.	.	.	-0.410166	0.01982	T	-0.730097	0.04323	T	0.57456761598587	0.35410	D	0.59544	0.22079	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.;.;.;.	.;.;.;.;.	-0.354200	0.02388	0.265	0.97894733251973276	0.36697	0.00842	0.03373	N	AEFDBI	0.059447	0.11227	N	-1.22764309810554	0.04603	0.2080823	-1.39975666105797	0.03255	0.1514695	0.99999875439751	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-4.94	0.02830	-1.242000	0.03018	.	.	-1.094000	0.01527	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1359:0.1652:0.2018:0.4971	1.533	0.02386	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	308.83	130	chr19	54278953	.	G	A	308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.481;DP=821;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.083;MQ=56.56;MQRankSum=-9.055;QD=1.48;ReadPosRankSum=2.25;SOR=1.269	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	5	0	1	0
chr19	54278958	54278958	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G461A:p.R154Q,LILRB2:NM_001278405:exon5:c.G809A:p.R270Q,LILRB2:NM_001278406:exon5:c.G809A:p.R270Q,LILRB2:NM_001080978:exon6:c.G809A:p.R270Q,LILRB2:NM_001278403:exon6:c.G809A:p.R270Q,LILRB2:NM_005874:exon6:c.G809A:p.R270Q	.	0	1469	47	0	6	53	0.0157454	.	.	.	3448989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	.	.	.	0.0002	0.0002	0.0016	0	0	4.498e-05	0	6.056e-05	0.0001811	28	154602	rs141001610	6.853e-05	0.0009	7.632e-05	6.065e-05	0.0011	5.723e-05	5.336e-05	0.0009	0.0008	0.0002	0.0011	3.826e-05	2.53e-05	0	0.0005	2.519e-05	1.659e-05	0.0001	0.0002	0.0019	0.0002	0.0003	0.0049	0.0002	0.0002	0.0033	0.0028	0.0001	0	0.0002	0	0.0004	0	0	4.419e-05	0	0.0049	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.002460	0.00890	N	3.309270	1	0.08975	N	.	.	.	5.85	0.00643	T	0.1	0.08033	N	0.086	0.06322	-0.9480	0.41313	T	0.001	0.00408	T	10	0.0064520836	0.00146	T	.	.	.	0.051	0.14325	.	.	0.0762999501168	0.06990	0.03574424853434192	0.03521	0.0523993487686	0.05771	0.308895945549	0.11741	T	.	.	.	-0.635988	0.00088	T	-0.726862	0.04471	T	0.0861766710877419	0.10757	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.04002	B	.;.;.;.;.	.;.;.;.;.	-0.243570	0.02876	0.409	0.89160353015236826	0.18561	0.00098	0.00638	N	AEFDBI	0.044351	0.07125	N	-1.50017356937193	0.01849	0.08109786	-1.52029509544871	0.02188	0.1002686	0.999954743047432	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.81	-1.39	0.08526	-2.154000	0.01372	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2971:0.3746:0.0:0.3284	1.702	0.02701	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	344.83	130	chr19	54278958	.	C	T	344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=824;ExcessHet=0;FS=5.884;MLEAC=1;MLEAF=0.083;MQ=56.86;MQRankSum=-9.633;QD=1.63;ReadPosRankSum=2.57;SOR=1.398	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	5	0	1	0
chr19	54278964	54278964	G	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.C455A:p.P152H,LILRB2:NM_001278405:exon5:c.C803A:p.P268H,LILRB2:NM_001278406:exon5:c.C803A:p.P268H,LILRB2:NM_001080978:exon6:c.C803A:p.P268H,LILRB2:NM_001278403:exon6:c.C803A:p.P268H,LILRB2:NM_005874:exon6:c.C803A:p.P268H	.	0	1471	51	0	0	51	0.0170398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs202225109	9.6e-06	0.0011	8.181e-06	1.104e-05	0.0007	5.57e-06	4.36e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	0	0	0.0001	0.0002	0.0019	0.0001	0.0003	0.0054	0.0001	0.0001	0.0037	0.0032	0	0	0.0001	0	0.0004	0	0	2.946e-05	0	0.0054	0.255	0.21467	T	0.19	0.29740	T	.	.	.	.	.	.	0.330908	0.04130	N	1.557270	1	0.08975	N	.	.	.	2.58	0.13434	T	-4.54	0.86836	D	0.141	0.15609	-0.9554	0.40024	T	0.040	0.17149	T	10	0.029960573	0.01121	T	.	.	.	0.038	0.09825	.	.	0.214338557667	0.21045	0.044474946673734694	0.04391	0.0706747298665	0.07918	0.350279659033	0.17962	T	.	.	.	-0.294746	0.09164	T	-0.661158	0.08188	T	0.21102948486805	0.21007	T	0.40306	0.10319	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21987	B	.;.;.;.;.	.;.;.;.;.	0.201011	0.05860	2.299	0.85762128380657487	0.16096	0.00511	0.02393	N	AEFDBI	0.061365	0.11728	N	-1.03468415525976	0.07891	0.3681373	-1.22419382548256	0.05524	0.263401	0.999990688997952	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.94	-3.7	0.04150	-1.490000	0.02409	.	.	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2658:0.0:0.5035:0.2308	2.863	0.05251	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	380.83	130	chr19	54278964	.	G	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.059;DP=827;ExcessHet=0;FS=8.934;MLEAC=1;MLEAF=0.083;MQ=57.06;MQRankSum=-10.07;QD=1.78;ReadPosRankSum=1.96;SOR=1.557	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	5	0	1	0
chr19	54278980	54278980	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G439A:p.D147N,LILRB2:NM_001278405:exon5:c.G787A:p.D263N,LILRB2:NM_001278406:exon5:c.G787A:p.D263N,LILRB2:NM_001080978:exon6:c.G787A:p.D263N,LILRB2:NM_001278403:exon6:c.G787A:p.D263N,LILRB2:NM_005874:exon6:c.G787A:p.D263N	.	0	1466	56	0	0	56	0.0187416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	3.88e-05	6	154602	rs201144349	3.158e-05	0.0016	2.456e-05	3.868e-05	0.0007	2.421e-05	2.165e-05	0.0003	0.0003	2.987e-05	0	0	7.596e-05	0	0.0007	0	1.665e-05	0.0004	0.0003	0.0020	0.0002	0.0004	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	6.545e-05	0	0.0006	0	0	4.419e-05	0	0.0078	0.057	0.40068	T	0.137	0.35970	T	.	.	.	.	.	.	0.227542	0.03497	N	1.622490	1	0.08975	N	.	.	.	5.78	0.00681	T	-3.18	0.67241	D	0.075	0.06720	-0.9001	0.47983	T	0.004	0.01330	T	10	0.011269033	0.00247	T	.	.	.	0.019	0.03383	.	.	0.16115917748	0.15686	0.02858884656927589	0.02808	0.0517027299981	0.05692	0.434308677912	0.29798	T	.	.	.	-0.408154	0.02045	T	-0.621408	0.11076	T	0.067898266017437	0.08354	T	0.0672933	0.00489	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	0.126745	0.05232	1.737	0.99165378949905292	0.54212	0.00731	0.03065	N	AEFDBI	0.067992	0.13391	N	-0.943784021005047	0.09832	0.4671333	-1.04171641115742	0.08880	0.4388496	0.999966612744748	0.48965	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.6	1.52	0.22158	-0.084000	0.11233	.	.	-0.237000	0.07570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8311:0.0:0.1689	5.958	0.18521	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	358.83	130	chr19	54278980	.	C	T	358.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.459;DP=1289;ExcessHet=0;FS=3.836;MLEAC=1;MLEAF=0.083;MQ=57.19;MQRankSum=-10.5;QD=1.57;ReadPosRankSum=1.03;SOR=1.074	GT:AD:DP:GQ:PL	0/0:316,0:316:99:0,120,1800	5	0	1	0
chr19	54279009	54279009	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G410A:p.R137K,LILRB2:NM_001278405:exon5:c.G758A:p.R253K,LILRB2:NM_001278406:exon5:c.G758A:p.R253K,LILRB2:NM_001080978:exon6:c.G758A:p.R253K,LILRB2:NM_001278403:exon6:c.G758A:p.R253K,LILRB2:NM_005874:exon6:c.G758A:p.R253K	.	0	1462	60	0	0	60	0.0201072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00235222709684	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	.	.	.	rs201954016	2.403e-05	0.0016	2.729e-05	2.072e-05	0.0007	1.745e-05	1.544e-05	0.0002	0.0002	2.988e-05	0	0	5.066e-05	0	0.0007	0	3.329e-05	0.0003	0.0002	0.0022	0.0001	0.0004	0.0063	0.0002	0.0002	0.0045	0.0039	0	0	6.545e-05	0	0.0006	0	0	5.892e-05	0.0005	0.0063	0.036	0.44029	D	0.122	0.36233	T	.	.	.	.	.	.	0.319229	0.14299	N	0.586687	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.49	0.55181	N	0.187	0.23125	-1.0404	0.17192	T	0.031	0.13242	T	10	0.025534004	0.00745	T	0.002352	0.04562	T	0.067	0.19503	.	.	0.212008924253	0.20833	0.10418856203767023	0.10348	0.0833994470857	0.09409	0.417187333107	0.27450	T	.	.	.	-0.174685	0.24528	T	-0.4887	0.23526	T	0.564006745815277	0.35007	D	0.570043	0.20293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.30291	B	.;.;.;.;.	.;.;.;.;.	1.889670	0.24000	16.23	0.98485548965399816	0.42025	0.01821	0.05662	N	AEFDBI	0.073054	0.14600	N	-0.583375646932635	0.19449	1.018033	-0.70337057896817	0.16876	0.89484	0.99995673367178	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	1.19	0.20120	0.229000	0.17614	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6815:0.3185:0.0	6.256	0.20085	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	568.83	280	chr19	54279009	.	C	T	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.848;DP=1581;ExcessHet=0;FS=1.57;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-10.5;QD=2.39;ReadPosRankSum=-0.844;SOR=0.52	GT:AD:DP:GQ:PL	0/0:316,0:316:99:0,120,1800	5	0	1	0
chr19	54279067	54279067	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G352A:p.V118I,LILRB2:NM_001278405:exon5:c.G700A:p.V234I,LILRB2:NM_001278406:exon5:c.G700A:p.V234I,LILRB2:NM_001080978:exon6:c.G700A:p.V234I,LILRB2:NM_001278403:exon6:c.G700A:p.V234I,LILRB2:NM_005874:exon6:c.G700A:p.V234I	.	0	1465	57	0	0	57	0.0190827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00231689804329	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310632184	3.426e-06	0.0007	2.725e-06	4.136e-06	1.799e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.616e-05	0	1.799e-06	0	0	6.587e-05	0.0017	2.576e-05	0.0001	0.0016	3.525e-05	2.622e-05	0.0007	0.0005	0	0	6.545e-05	0	0.0002	0	0	1.473e-05	0	0.0016	0.593	0.06627	T	0.338	0.20551	T	.	.	.	.	.	.	0.761412	0.09620	N	0.865655	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.51	0.16393	N	0.036	0.01421	-0.9504	0.40903	T	0.022	0.09421	T	10	0.036592543	0.01965	T	0.002317	0.04479	T	0.008	0.00669	.	.	0.0611884634855	0.05136	0.03357643983119686	0.03305	0.0470091310677	0.05119	0.29942548275	0.10315	T	.	.	.	-0.358469	0.04217	T	-0.752693	0.03382	T	0.062499953860658	0.07557	T	0.381662	0.09243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.15609	B	.;.;.;.;.	.;.;.;.;.	-0.840867	0.01029	0.043	0.56970648003233282	0.05667	0.00059	0.00440	N	AEFDBI	0.028238	0.02451	N	-1.40762758122284	0.02571	0.1137209	-1.57198416243308	0.01829	0.08330974	0.999998432343023	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.44	-4.88	0.02884	-2.561000	0.00996	.	.	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2208:0.3584:0.4208	4.131	0.09618	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	167.83	130	chr19	54279067	.	C	T	167.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.275;DP=763;ExcessHet=0;FS=2.104;MLEAC=1;MLEAF=0.083;MQ=56.44;MQRankSum=-7.622;QD=0.86;ReadPosRankSum=1.68;SOR=0.972	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	5	0	1	0
chr19	54279637	54279638	TG	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon4:c.17_18del:p.P6fs,LILRB2:NM_001278405:exon4:c.365_366del:p.P122Qfs*23,LILRB2:NM_001278406:exon4:c.365_366del:p.P122Qfs*23,LILRB2:NM_001080978:exon5:c.365_366del:p.P122Qfs*23,LILRB2:NM_001278403:exon5:c.365_366del:p.P122fs,LILRB2:NM_005874:exon5:c.365_366del:p.P122Qfs*23	.	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.306e-05	0	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs772394490	0.0001	0.0026	6.728e-05	0.0002	0.0018	0.0001	9.448e-05	0.0016	0.0015	9.011e-05	2.255e-05	0	0.0002	0	0.0002	3.62e-06	0.0001	0.0018	0.0005	0.0027	0.0004	0.0007	0.0105	0.0004	0.0004	0.0081	0.0072	9.65e-05	0	0.0004	0	0.0016	0	0	0.0002	0.0010	0.0105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	209.79	161	chr19	54279636	.	TTG	T	209.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=852;ExcessHet=0;FS=13.091;MLEAC=1;MLEAF=0.083;MQ=58.58;MQRankSum=-10.82;QD=1.39;ReadPosRankSum=-1.357;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800:.	5	0	1	0
chr19	54279639	54279639	-	CT	exonic	LILRB2	.	frameshift insertion	LILRB2:NM_001278404:exon4:c.15_16insAG:p.P6fs,LILRB2:NM_001278405:exon4:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001278406:exon4:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001080978:exon5:c.363_364insAG:p.P122Sfs*14,LILRB2:NM_001278403:exon5:c.363_364insAG:p.P122fs,LILRB2:NM_005874:exon5:c.363_364insAG:p.P122Sfs*14	.	5	1509	8	0	0	8	0.00264375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.309e-05	0	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs776264427	0.0002	0.0026	0.0001	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	9.011e-05	4.51e-05	0	0.0002	0	0.0002	8.146e-06	0.0001	0.0025	0.0005	0.0027	0.0004	0.0007	0.0111	0.0004	0.0004	0.0086	0.0077	9.643e-05	0	0.0004	0	0.0018	0	0	0.0002	0.0010	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	209.79	161	chr19	54279639	.	G	GCT	209.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.41;DP=848;ExcessHet=0;FS=13.091;MLEAC=1;MLEAF=0.083;MQ=58.54;MQRankSum=-10.82;QD=1.39;ReadPosRankSum=-1.382;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800:.	5	0	1	0
chr19	54280267	54280267	T	C	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278405:exon2:c.A67G:p.T23A,LILRB2:NM_001278406:exon2:c.A67G:p.T23A,LILRB2:NM_001080978:exon3:c.A67G:p.T23A,LILRB2:NM_001278403:exon3:c.A67G:p.T23A,LILRB2:NM_005874:exon3:c.A67G:p.T23A	.	2	1433	87	0	0	87	0.0294616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0012	0.0227636	0.0115	0.0014	0.0022	0.0071	0	0.0022	0.0110	0.0689	0.0011643	180	154602	rs45557835	0.0051	0.0059	0.0034	0.0068	0.0620	0.0050	0.0050	0.0606	0.0601	0.0015	0.0026	3.832e-05	0.0083	0.0002	0.0214	0.0010	0.0065	0.0620	0.0042	0.0085	0.0032	0.0053	0.0758	0.0039	0.0038	0.0692	0.0666	0.0018	0	0.0020	0	0.0086	9.777e-05	0.0071	0.0018	0.0045	0.0758	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.214330	0.16290	N	0.506830	1	0.08975	N	.	.	.	7.24	0.00442	T	3.1	0.00152	N	0.015	0.00372	-0.9672	0.37774	T	0.000	0.00039	T	10	0.0016281903	0.00019	T	.	.	.	0.050	0.13987	.	.	.	.	0.13931904933701697	0.13854	0.0445651489178	0.04814	0.258890688419	0.04759	T	.	.	.	-0.750458	0.00018	T	-0.843793	0.01043	T	0.0121831028162127	0.00195	T	0.10479	0.00780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00890	B	.;.;.;.	.;.;.;.	0.305873	0.06811	3.336	0.78567594590600964	0.12357	0.00042	0.00346	N	AEFBI	0.022739	0.01175	N	-1.98632032158532	0.00226	0.009703882	-1.97120563060797	0.00352	0.01553707	0.999987168024289	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.24	-4.48	0.03267	0.118000	0.15436	.	.	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1784:0.2253:0.1772:0.4191	0.660	0.00787	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.030127	0.005051	0.025815	0.024590	0.000000	0.017241	0.027439	0.068182	0.08333	1227.83	86	chr19	54280267	.	T	C	1227.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=565;ExcessHet=0;FS=5.489;MLEAC=1;MLEAF=0.083;MQ=57.82;MQRankSum=-7.849;QD=7.92;ReadPosRankSum=-0.306;SOR=0.364	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	5	0	1	0
chr19	54336912	54336912	C	T	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.G1184A:p.C395Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00540884723371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.003084	0.35449	N	0.000000	0.61571	0.30823	N	.	.	.	1.28	0.35960	T	-10.14	0.98893	D	0.688	0.69387	-0.4352	0.70890	T	0.326	0.69401	T	10	0.9769464	0.97503	D	0.005409	0.13893	T	0.230	0.53062	0.891	0.97367	0.139678290688	0.13603	0.8073630168348418	0.80691	0.559930976625	0.52535	0.391263246536	0.23848	T	.	.	.	0.0407799	0.57148	T	-0.179199	0.56597	T	0.99980217218399	0.99090	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.78403	P	.	.	4.714645	0.75770	26.4	0.98908404912692127	0.48327	0.13186	0.17713	N	AEFDBHCI	0.069284	0.13707	N	0.275340589559388	0.54901	3.654809	-0.040139925924855	0.37920	2.226867	1.30528051136978E-4	0.05386	0.554377	0.28877	0	0.187218	0.04217	2	0.315538	0.05692	2	0.567892	0.33627	0	.	.	2.51	1.46	0.21769	1.693000	0.37360	.	.	0.596000	0.33519	0.925000	0.32113	0.000000	0.08366	0.156000	0.20513	0.0:0.8308:0.0:0.1692	5.215	0.14658	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	.	.	.	.	.	.	.	.	0.08333	4622.83	376	chr19	54336912	.	C	T	4622.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=1762;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=57.68;MQRankSum=7.86;QD=9.86;ReadPosRankSum=-3.705;SOR=0.616	GT:AD:DP:GQ:PL	0/1:281,188:469:99:4633,0,8205	5	0	1	0
chr19	54337451	54337451	C	G	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G901C:p.V301L	.	5	1472	44	1	0	46	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0059	0.00579073	0.0073	0.0054	0.0109	0.0017	0.0062	0.0078	0.0102	0.0072	0.0070956	1097	154602	rs55828618	0.0069	0.0069	0.0069	0.0069	0.0110	0.0068	0.0067	0.0094	0.0091	0.0052	0.0102	0.0098	0.0033	0.0042	0.0110	0.0069	0.0070	0.0078	0.0070	0.0070	0.0070	0.0070	0.0095	0.0066	0.0065	0.0083	0.0078	0.0058	0	0.0095	0.0110	0.0035	0.0041	0.0136	0.0076	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.049233	0.01996	N	2.525700	1	0.08975	N	.	.	.	2.69	0.12268	T	2.14	0.00347	N	0.128	0.12198	-0.9678	0.37652	T	0.007	0.02439	T	10	0.004746586	0.00100	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.1017683440438472	0.10107	0.0744562594757	0.08353	0.28287139535	0.07896	T	.	.	.	-0.766824	0.00014	T	-0.861293	0.00829	T	0.000877321905358312	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.	.	-2.234250	0.00059	0.001	0.49159573139768742	0.04162	0.00073	0.00509	N	AEFBI	0.014917	0.00258	N	-1.9615160619044	0.00255	0.01095738	-1.9304477807845	0.00426	0.01883179	1.40922730603188E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	2.51	-1.26	0.08892	-2.418000	0.01111	.	.	-3.628000	0.00070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.225:0.3668:0.4082	4.786	0.12593	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	0.007996	0.010101	0.009511	0.004098	0.000000	0.008621	0.012422	0.000000	0.1667	1044.04	35	chr19	54337451	.	C	G	1044.04	.	AC=2;AF=0.167;AN=12;DP=250;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.6;QD=33.68;SOR=2.093	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	5	1	0	0
chr19	54337505	54337505	T	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.A847G:p.S283G	.	2	1517	3	0	0	3	0.000987817	.	.	.	2301190	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00239449311364	.	.	0.0003	0.0004	0.0003	0.0003	0	0.0002	0	0.0005	0.0002329	36	154602	rs769780480	0.0002	0.0008	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.838e-05	0.0003	0	0.0006	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0	0	0	0.0003	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.007074	0.01153	N	2.682150	1	0.08975	N	.	.	.	2.6	0.13204	T	3.21	0.00114	N	0.102	0.08506	-0.9726	0.36648	T	0.013	0.05081	T	10	0.026920617	0.00848	T	0.002394	0.04673	T	0.105	0.29889	.	.	0.0138822411134	0.00435	0.14075681419015865	0.13998	0.0689711417627	0.07720	0.307548761368	0.11537	T	.	.	.	-0.666024	0.00058	T	-0.885606	0.00609	T	0.00421839075956723	0.00045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01092	B	.	.	-1.148357	0.00585	0.015	0.18762156434432581	0.00604	0.00025	0.00253	N	AEFDBI	0.018206	0.00534	N	-1.78807306419027	0.00575	0.02476665	-1.74547076451873	0.00950	0.04255185	8.51954910628988E-5	0.04703	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.69	0.487	0.16050	-1.049000	0.03625	.	.	-4.018000	0.00046	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8468:0.0:0.1532	7.790	0.28280	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	1	0	0.001070	0.000000	0.000000	0.004098	0.000000	0.000000	0.003125	0.000000	0.08333	672.83	54	chr19	54337505	.	T	C	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=292;ExcessHet=0;FS=2.273;MLEAC=1;MLEAF=0.083;MQ=58.79;MQRankSum=-2.117;QD=12.46;ReadPosRankSum=0.996;SOR=1.04	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	5	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	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	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.08333	76.87	22	chr19	54463480	.	G	A	76.87	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.393;DP=73;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=0.793;SOR=1.022	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	5	0	1	0
chr19	54465172	54465172	C	T	exonic	CDC42EP5	.	nonsynonymous SNV	CDC42EP5:NM_145057:exon3:c.G376A:p.G126R	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0038	0.00199681	0.0218	0.0065	0.0034	0.0024	0.0145	0.0348	0	0.0127	0.0030983	479	154602	rs10017	0.0067	0.0063	0.0066	0.0068	0.0076	0.0066	0.0065	0.0074	0.0074	0.0013	0.0018	0.0017	0.0002	0.0038	0.0030	0.0076	0.0046	0.0033	0.0048	0.0048	0.0048	0.0048	0.0078	0.0045	0.0044	0.0073	0.0071	0.0011	0.0395	0.0018	0.0009	0.0004	0.0054	0	0.0078	0.0043	0.0027	0.171	0.22746	T	0.397	0.15157	T	0.178	0.28960	B	0.014	0.16862	B	0.450446	0.12514	N	0.537116	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-0.99	0.26200	N	0.109	0.09490	-1.0272	0.21363	T	0.031	0.13374	T	10	0.0034463108	0.00061	T	.	.	.	0.030	0.07022	0.092	0.01108	0.296679040009	0.29266	0.1285259735343302	0.12777	1.02830112022	0.75345	0.689349770546	0.65613	T	0.020879	0.16359	T	-0.607722	0.00131	T	-0.634051	0.10108	T	0.0040330792534865	0.00043	T	.	.	.	0.042727932	0.06534	0.05883738	0.10942	0.042727932	0.06533	0.05883738	0.10941	-3.033	0.10541	T	.	.	0.102	0.18164	B	.	.	1.745182	0.22204	15.52	0.95941256769208927	0.28244	0.15801	0.19088	N	ALL	0.070652	0.14034	N	-0.946644691586346	0.09768	0.4637701	-1.00009656266121	0.09784	0.4887702	0.9999999999677	0.74766	0.489673	0.17934	0	0.166054	0.03914	2	0.64067	0.45733	0	0.662433	0.64102	0	.	.	2.97	1.86	0.24489	0.603000	0.23848	.	.	0.592000	0.32167	0.001000	0.13787	0.026000	0.21063	0.006000	0.07323	0.0:0.8737:0.0:0.1263	8.383	0.31642	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	0.003125	0.000000	0.000000	0.003067	0.000000	0.008772	0.003205	0.007634	0.08333	424.83	34	chr19	54465172	.	C	T	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=173;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.18;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,983	5	0	1	0
chr19	54574075	54574075	G	C	splicing	LILRA2	NM_001290271:exon3:c.35-1G>C;NM_006866:exon3:c.35-1G>C;NM_001130917:exon2:c.35-1G>C	.	.	.	1	1517	4	0	0	4	0.00131666	0.9999	0.874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461200853	6.849e-06	0.0005	5.45e-06	8.263e-06	0.0016	3.46e-06	2.53e-06	0.0008	0.0006	2.989e-05	0	0	0	0	0.0016	0	0	0	0.0005	0.0031	0.0004	0.0006	0.0040	0.0004	0.0004	0.0026	0.0021	0.0006	0	0.0002	0	0.0037	0	0	0.0001	0.0005	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316628	0.55945	T	-0.192295	0.55375	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.773681	0.77302	26.7	0.92134445677484444	0.21491	0.81451	0.40852	D	AEFBI	.	.	.	0.699248564938747	0.79581	7.108415	0.438102846995638	0.63958	4.640181	0.986491730132312	0.31074	0.079382	0.02114	2	0.146754	0.03522	2	0.060301	0.00762	0	0.050693	0.00103	0	0.221492	0.31388	2.69	1.59	0.22622	2.737000	0.47066	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.2626:0.7374:0.0	7.643	0.27470	958	0.09170	.;.;.;.;.	.	.	.	.	.	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	218.83	214	chr19	54574075	.	G	C	218.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=1022;ExcessHet=0;FS=1.961;MLEAC=1;MLEAF=0.083;MQ=54.3;MQRankSum=-7.803;QD=1.47;ReadPosRankSum=-0.491;SOR=0.949	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	5	0	1	0
chr19	54574761	54574761	T	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T347A:p.L116Q,LILRA2:NM_001130917:exon4:c.T383A:p.L128Q,LILRA2:NM_001290271:exon5:c.T383A:p.L128Q,LILRA2:NM_006866:exon5:c.T383A:p.L128Q	.	0	1476	46	0	0	46	0.0153436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00290790361383	.	.	0.0001	0	0	0.0001	0	0	0	0.0009	.	.	.	rs780646104	0.0003	0.0040	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	0.0001	0	0.0012	0	0.0004	4.863e-05	0.0002	0.0035	0.0013	0.0034	0.0010	0.0017	0.0280	0.0012	0.0011	0.0240	0.0225	0.0001	0	0.0006	0	0.0041	0	0	0.0006	0.0009	0.0280	0.121	0.28395	T	0.354	0.26883	T	0.015	0.32288	B	0.014	0.42263	B	0.717611	0.06295	N	1.192030	1	0.08975	N	.	.	.	4.16	0.02791	T	-4.65	0.79571	D	0.255	0.32591	-0.8966	0.48331	T	0.010	0.03856	T	10	0.008085936	0.00183	T	0.002908	0.06162	T	0.027	0.05988	.	.	0.119812018005	0.11559	0.05750352958498812	0.05691	0.0473301972145	0.05155	.	.	.	0.075397	0.35168	T	-0.248917	0.14232	T	-0.595329	0.13207	T	0.0829179016543359	0.10357	T	0.579442	0.20917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	2.109239	0.26843	17.26	0.79232404653293798	0.12649	0.01805	0.05629	N	AEFDBI	0.102574	0.20573	N	-0.886363565694292	0.11166	0.5374101	-0.975825106023818	0.10330	0.5195757	0.99805711249777	0.36367	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	1.85	0.24418	-0.665000	0.05386	.	.	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.1487:0.0:0.8513	5.151	0.14337	958	0.09170	Immunoglobulin subtype;.;.;.;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	0.002119	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.08333	1467.83	235	chr19	54574761	.	T	A	1467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.598;DP=1470;ExcessHet=0;FS=3.38;MLEAC=1;MLEAF=0.083;MQ=56.27;MQRankSum=-4.511;QD=3.9;ReadPosRankSum=0.286;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574778	54574778	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.A364G:p.T122A,LILRA2:NM_001130917:exon4:c.A400G:p.T134A,LILRA2:NM_001290271:exon5:c.A400G:p.T134A,LILRA2:NM_006866:exon5:c.A400G:p.T134A	.	0	1479	43	0	0	43	0.0143286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00126399251042	.	.	8.241e-05	0	0	0.0001	0	0	0	0.0005	.	.	.	rs777235606	0.0003	0.0039	0.0002	0.0004	0.0033	0.0002	0.0002	0.0030	0.0029	0	0.0001	0	0.0012	0	0.0005	4.052e-05	0.0002	0.0033	0.0014	0.0034	0.0010	0.0018	0.0302	0.0013	0.0012	0.0260	0.0244	0.0001	0	0.0008	0	0.0039	0	0	0.0006	0.0009	0.0302	0.574	0.08609	T	0.637	0.07342	T	0.0	0.02946	B	0.002	0.06944	B	0.466569	0.04901	N	1.325020	1	0.08975	N	.	.	.	3.95	0.03382	T	-1.52	0.40850	N	0.089	0.10198	-0.9240	0.44999	T	0.005	0.01688	T	10	0.004385501	0.00089	T	0.001264	0.01708	T	0.014	0.01968	.	.	0.0920862733494	0.08535	0.04518986992789734	0.04462	0.0177163298478	0.01731	.	.	.	0.022746	0.17484	T	-0.390408	0.02674	T	-0.79857	0.01939	T	0.0303807780146599	0.02049	T	0.137186	0.01298	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06069	B	.;.;.;.;.	.;.;.;.;.	0.390588	0.07619	4.285	0.54321513833683388	0.05114	0.00440	0.02147	N	AEFDBI	0.055514	0.10186	N	-1.75640243237011	0.00661	0.02850933	-1.81697909138188	0.00706	0.03145828	0.999864275575064	0.44398	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-4.3	0.03454	-1.134000	0.03340	.	.	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3297:0.1645:0.3441:0.1617	1.184	0.01737	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1524.83	235	chr19	54574778	.	A	G	1524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=1498;ExcessHet=0;FS=1.669;MLEAC=1;MLEAF=0.083;MQ=55.92;MQRankSum=-4.797;QD=3.79;ReadPosRankSum=0.906;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574788	54574788	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G374A:p.G125E,LILRA2:NM_001130917:exon4:c.G410A:p.G137E,LILRA2:NM_001290271:exon5:c.G410A:p.G137E,LILRA2:NM_006866:exon5:c.G410A:p.G137E	.	0	1478	44	0	0	44	0.0146667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0024163046378	.	.	8.239e-05	0	0	0.0001	0	0	0	0.0005	.	.	.	rs780649717	0.0003	0.0038	0.0002	0.0004	0.0035	0.0002	0.0002	0.0031	0.0030	0	8.984e-05	0	0.0013	0	0.0005	2.881e-05	0.0002	0.0035	0.0016	0.0034	0.0012	0.0020	0.0336	0.0014	0.0013	0.0293	0.0276	0.0001	0	0.0008	0	0.0047	0	0	0.0006	0.0009	0.0336	0.109	0.41096	T	0.443	0.33780	T	0.101	0.25775	B	0.423	0.53582	B	0.201585	0.16586	N	0.540376	1	0.08975	N	.	.	.	5.95	0.00612	T	-6.59	0.91998	D	0.251	0.30574	-0.8831	0.49513	T	0.004	0.01470	T	10	0.0062812865	0.00142	T	0.002416	0.04729	T	0.036	0.09122	.	.	0.229924730088	0.22615	0.11643163137210208	0.11571	0.14237696093	0.16047	.	.	.	0.085981	0.37623	T	-0.218925	0.18139	T	-0.552247	0.17112	T	0.15286109927484	0.17329	T	0.131687	0.01141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.;.;.;.;.	.;.;.;.;.	1.540897	0.19760	14.42	0.88821344929677037	0.18282	0.00900	0.03527	N	AEFDBI	0.075445	0.15152	N	-0.99550921269753	0.08699	0.4088868	-1.12717124411306	0.07184	0.3485245	0.996781888649196	0.35006	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-0.556	0.11213	0.726000	0.25653	.	.	0.562000	0.28470	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2877:0.2383:0.474:0.0	3.001	0.05647	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1593.83	419	chr19	54574788	.	G	A	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.914;DP=2426;ExcessHet=0;FS=0.754;MLEAC=1;MLEAF=0.083;MQ=55.87;MQRankSum=-4.866;QD=3.9;ReadPosRankSum=1.29;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:377,0:377:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574820	54574820	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G406C:p.A136P,LILRA2:NM_001130917:exon4:c.G442C:p.A148P,LILRA2:NM_001290271:exon5:c.G442C:p.A148P,LILRA2:NM_006866:exon5:c.G442C:p.A148P	.	1	1485	36	0	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0015593626121	.	.	4.119e-05	0	0	0.0001	0	0	0	0.0002	0.0001153	3	26028	rs754386274	0.0002	0.0036	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0022	0	2.246e-05	0	0.0010	0	0.0004	1.441e-05	0.0001	0.0027	0.0015	0.0033	0.0011	0.0020	0.0306	0.0014	0.0013	0.0265	0.0249	0.0001	0	0.0009	0	0.0041	0	0.0034	0.0008	0.0005	0.0306	0.112	0.29158	T	0.177	0.29740	T	0.001	0.20876	B	0.001	0.23361	B	0.025726	0.01636	N	2.263410	1	0.08975	N	.	.	.	4.11	0.02916	T	-2.74	0.60348	D	0.265	0.32812	-0.9448	0.41846	T	0.010	0.03537	T	10	0.006677538	0.00151	T	0.001559	0.02471	T	0.040	0.10527	.	.	0.16115917748	0.15686	0.06741740746339941	0.06679	0.0251656476309	0.02561	.	.	.	0.077124	0.35582	T	-0.226632	0.17097	T	-0.563318	0.16066	T	0.0599034720966862	0.07154	T	0.0101704	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.17103	B	.;.;.;.;.	.;.;.;.;.	1.392494	0.18056	13.52	0.93837028780536813	0.23827	0.02299	0.06611	N	AEFDBI	0.139758	0.26145	N	-0.929862385592028	0.10149	0.4836003	-1.02276972820176	0.09285	0.4610889	0.996786216093416	0.35006	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	0.454	0.15857	0.193000	0.16921	.	.	0.562000	0.28470	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1745:0.0:0.5385:0.287	2.573	0.04508	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1658.83	458	chr19	54574820	.	G	C	1658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.636;DP=2706;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.083;MQ=54.61;MQRankSum=-4.204;QD=3.8;ReadPosRankSum=0.265;SOR=0.507	GT:AD:DP:GQ:PL	0/0:438,0:438:99:0,120,1800	5	0	1	0
chr19	54574847	54574847	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G433C:p.E145Q,LILRA2:NM_001130917:exon4:c.G469C:p.E157Q,LILRA2:NM_001290271:exon5:c.G469C:p.E157Q,LILRA2:NM_006866:exon5:c.G469C:p.E157Q	.	1	1496	25	0	0	25	0.00828638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00157580216014	.	.	2.471e-05	0	0	0	0	0	0	0.0002	.	.	.	rs201199710	7.217e-05	0.0024	6.007e-05	8.444e-05	0.0011	6.076e-05	5.622e-05	0.0009	0.0008	0	0	0	0.0004	0	0	9.001e-07	1.664e-05	0.0011	0.0008	0.0028	0.0005	0.0012	0.0170	0.0007	0.0007	0.0139	0.0128	4.809e-05	0	0.0007	0	0.0020	0	0.0034	0.0004	0.0009	0.0170	0.005	0.63226	D	0.005	0.72224	D	0.993	0.65571	D	0.661	0.52837	P	0.496801	0.11995	N	0.732597	0.999957	0.43101	N	.	.	.	5.62	0.00808	T	-2.69	0.57435	D	0.124	0.14196	-1.0867	0.06102	T	0.015	0.05946	T	10	0.020919412	0.00491	T	0.001576	0.02497	T	0.155	0.40530	0.694	0.83126	0.456830177556	0.45309	0.09210003125198561	0.09143	0.0492381322711	0.05384	.	.	.	0.098177	0.40173	T	-0.191658	0.22015	T	-0.51308	0.20999	T	0.439549679013841	0.30412	T	0.758424	0.38228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.42346	B	.;.;.;.;.	.;.;.;.;.	1.162857	0.15522	11.91	0.95607556626178936	0.27354	0.11945	0.16962	N	AEFDBI	0.065452	0.12768	N	-0.226975208911503	0.32031	1.802126	-0.537652195164035	0.21134	1.141871	0.999566434941542	0.40425	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	0.715	0.17341	-0.197000	0.09519	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2976:0.0:0.7024:0.0	5.070	0.13937	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1440.83	503	chr19	54574847	.	G	C	1440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.553;DP=2981;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.11;MQRankSum=-5.166;QD=3.14;ReadPosRankSum=0.417;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:510,0:510:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574851	54574851	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.G437A:p.G146E,LILRA2:NM_001130917:exon4:c.G473A:p.G158E,LILRA2:NM_001290271:exon5:c.G473A:p.G158E,LILRA2:NM_006866:exon5:c.G473A:p.G158E	.	1	1496	25	0	0	25	0.00828638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00158839795	.	.	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs981943540	6.112e-05	0.0019	5.185e-05	7.05e-05	0.0009	5.047e-05	4.69e-05	0.0007	0.0007	0	0	0	0.0003	0	0	1.8e-06	1.662e-05	0.0009	0.0007	0.0027	0.0004	0.0011	0.0145	0.0006	0.0006	0.0117	0.0106	4.809e-05	0	0.0006	0	0.0018	0	0.0034	0.0004	0.0005	0.0145	0.01	0.56456	D	0.039	0.58613	D	0.952	0.54136	P	0.631	0.53500	P	0.000306	0.45977	D	0.000000	0.999178	0.47278	N	.	.	.	5.23	0.01143	T	-6.12	0.90976	D	0.366	0.43223	-1.0533	0.13493	T	0.012	0.04747	T	10	0.018811762	0.00413	T	0.001588	0.02548	T	0.178	0.44724	0.503	0.59615	0.367992661779	0.36405	0.15884369085426767	0.15805	0.0697944257895	0.07817	.	.	.	0.170372	0.51809	T	-0.136942	0.30378	T	-0.434484	0.29426	T	0.925097167491913	0.58663	D	0.611839	0.23263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35829	B	.;.;.;.;.	.;.;.;.;.	2.097630	0.26686	17.20	0.8932465852093755	0.18699	0.59769	0.31007	D	AEFDBI	0.187456	0.31475	N	-0.138918388851475	0.35706	2.05445	-0.348952406798031	0.26542	1.466699	0.99997052231634	0.50053	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.84	1.78	0.23918	0.709000	0.25407	.	.	0.650000	0.52971	0.002000	0.15269	0.000000	0.08366	0.021000	0.11733	0.1575:0.0:0.8425:0.0	5.832	0.17840	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1504.83	503	chr19	54574851	.	G	A	1504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.639;DP=2982;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.12;MQRankSum=-5.456;QD=3.24;ReadPosRankSum=-0.004;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:510,0:510:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574885	54574885	T	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T471G:p.H157Q,LILRA2:NM_001130917:exon4:c.T507G:p.H169Q,LILRA2:NM_001290271:exon5:c.T507G:p.H169Q,LILRA2:NM_006866:exon5:c.T507G:p.H169Q	.	0	1493	29	0	0	29	0.00961857	.	.	.	3448965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00137951337161	.	.	0.0003	0.0002	0	0.0001	0	0	0	0.0018	0.0002199	34	154602	rs759834040	1.715e-05	0.0013	1.772e-05	1.656e-05	0.0003	1.177e-05	9.95e-06	0.0002	0.0002	8.961e-05	0	0	0	0	0	0	0	0.0003	0.0003	0.0017	0.0002	0.0005	0.0057	0.0003	0.0002	0.0040	0.0034	0.0002	0	0.0001	0	0.0012	0	0	0.0001	0	0.0057	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.149978	0.18001	N	0.473494	1	0.08975	N	.	.	.	4.16	0.02791	T	3.19	0.00117	N	0.131	0.12913	-0.9580	0.39552	T	0.002	0.00585	T	10	0.003789425	0.00071	T	0.00138	0.02011	T	0.008	0.00669	0.335	0.32329	0.0884992946249	0.08302	0.021061461421286985	0.02059	0.0177108750862	0.01731	.	.	.	0.002428	0.01816	T	-0.356276	0.04344	T	-0.749542	0.03504	T	0.0190798498956005	0.00616	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22061	B	.;.;.;.;.	.;.;.;.;.	-1.451496	0.00325	0.006	0.14629828553724231	0.00329	0.00015	0.00188	N	AEFDBI	0.023985	0.01416	N	-2.42490604772946	0.00024	0.001025752	-2.3780807722097	0.00044	0.001937836	0.999997712159124	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-5.0	0.02777	-0.632000	0.05587	.	.	-4.276000	0.00035	0.000000	0.06391	.	.	0.000000	0.00833	0.1075:0.2907:0.4519:0.1499	3.365	0.06779	958	0.09170	Immunoglobulin subtype;.;.;.;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	1	0	.	.	.	.	.	.	.	.	0.08333	1226.83	521	chr19	54574885	.	T	G	1226.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=3050;ExcessHet=0;FS=1.731;MLEAC=1;MLEAF=0.083;MQ=53.95;MQRankSum=-7.492;QD=2.78;ReadPosRankSum=-0.25;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:543,0:543:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574886	54574886	T	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T472C:p.S158P,LILRA2:NM_001130917:exon4:c.T508C:p.S170P,LILRA2:NM_001290271:exon5:c.T508C:p.S170P,LILRA2:NM_006866:exon5:c.T508C:p.S170P	.	0	1493	29	0	0	29	0.00961857	.	.	.	3448964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.000644886848309	.	.	0.0003	0.0002	0	0.0001	0	0	0	0.0018	.	.	.	rs765734952	1.646e-05	0.0013	1.636e-05	1.657e-05	0.0003	1.114e-05	9.36e-06	0.0002	0.0002	5.974e-05	0	0	0	0	0	0	0	0.0003	0.0004	0.0017	0.0002	0.0006	0.0060	0.0003	0.0003	0.0042	0.0036	0.0002	0	0.0002	0	0.0012	0	0	0.0001	0	0.0060	0.643	0.10345	T	0.411	0.14500	T	0.001	0.07471	B	0.002	0.06944	B	0.000573	0.00639	N	4.184540	1	0.08975	N	.	.	.	3.95	0.03382	T	1.61	0.01051	N	0.1	0.08227	-0.9514	0.40730	T	0.005	0.01833	T	10	0.005929768	0.00133	T	6.45E-4	0.00334	T	0.025	0.05312	.	.	0.101711395817	0.09552	0.11514198776564773	0.11442	0.018622771246	0.01812	.	.	.	0.002732	0.02125	T	-0.457435	0.01020	T	-0.658181	0.08390	T	0.0217310456294662	0.00879	T	0.00937906	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02065	B	.;.;.;.;.	.;.;.;.;.	-0.830834	0.01048	0.045	0.16374500408034967	0.00436	0.00098	0.00638	N	AEFDBI	0.040467	0.06023	N	-1.71864401352952	0.00777	0.03359353	-1.72154388396389	0.01045	0.04690222	0.999946731061222	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.93	-0.98	0.09747	-3.101000	0.00666	.	.	-0.494000	0.05037	0.000000	0.06391	.	.	0.000000	0.00833	0.2186:0.5072:0.0:0.2741	2.77	0.05004	958	0.09170	Immunoglobulin subtype;.;.;.;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	.	.	.	.	.	.	.	.	0.08333	1217.83	521	chr19	54574886	.	T	C	1217.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=3048;ExcessHet=0;FS=1.737;MLEAC=1;MLEAF=0.083;MQ=53.91;MQRankSum=-7.525;QD=2.74;ReadPosRankSum=-0.118;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:543,0:543:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574889	54574889	-	GT	exonic	LILRA2	.	frameshift insertion	LILRA2:NM_001290270:exon3:c.475_476insGT:p.H159Rfs*16,LILRA2:NM_001130917:exon4:c.511_512insGT:p.H171Rfs*16,LILRA2:NM_001290271:exon5:c.511_512insGT:p.H171Rfs*16,LILRA2:NM_006866:exon5:c.511_512insGT:p.H171Rfs*16	.	0	1492	30	0	0	30	0.00995355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	7.68e-05	2	26028	rs764504246	1.51e-05	0.0015	1.5e-05	1.519e-05	0.0003	9.88e-06	8.44e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	0.0003	0.0017	0.0001	0.0004	0.0053	0.0002	0.0002	0.0036	0.0031	0	0	0.0003	0	0.0008	0	0	8.831e-05	0	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1175.79	521	chr19	54574889	.	C	CGT	1175.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.946;DP=3042;ExcessHet=0;FS=2.81;MLEAC=1;MLEAF=0.083;MQ=53.96;MQRankSum=-7.628;QD=2.65;ReadPosRankSum=0.099;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:543,0:543:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574892	54574893	GC	-	exonic	LILRA2	.	frameshift deletion	LILRA2:NM_001290270:exon3:c.478_479del:p.A160Pfs*27,LILRA2:NM_001130917:exon4:c.514_515del:p.A172Pfs*27,LILRA2:NM_001290271:exon5:c.514_515del:p.A172Pfs*27,LILRA2:NM_006866:exon5:c.514_515del:p.A172Pfs*27	.	0	1491	31	0	0	31	0.0102887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	7.68e-05	2	26028	rs752012965	1.99e-05	0.0015	1.909e-05	2.072e-05	0.0003	1.396e-05	1.207e-05	0.0002	0.0002	0	0	0	5.09e-05	0	0	0	0	0.0003	0.0003	0.0017	0.0002	0.0004	0.0055	0.0002	0.0002	0.0038	0.0033	0	0	0.0003	0	0.0010	0	0	0.0001	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1223.79	521	chr19	54574891	.	TGC	T	1223.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.906;DP=3048;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=-7.562;QD=2.73;ReadPosRankSum=0.332;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:543,0:543:99:.:.:0,120,1800:.	5	0	1	0
chr19	54574901	54574901	T	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon3:c.T487G:p.W163G,LILRA2:NM_001130917:exon4:c.T523G:p.W175G,LILRA2:NM_001290271:exon5:c.T523G:p.W175G,LILRA2:NM_006866:exon5:c.T523G:p.W175G	.	1	1490	31	0	0	31	0.0102956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00187326089428	.	.	0.0003	0	0	0.0001	0	0	0	0.0018	.	.	.	rs780051526	3.981e-05	0.0016	3.137e-05	4.836e-05	0.0006	3.123e-05	2.856e-05	0.0005	0.0004	0	0	0	0.0002	0	0	8.997e-07	0	0.0006	0.0005	0.0017	0.0003	0.0006	0.0104	0.0004	0.0004	0.0080	0.0072	0	0	0.0002	0	0.0021	0	0	0.0002	0	0.0104	0.417	0.16038	T	0.324	0.18903	T	0.0	0.02946	B	0.001	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	4.2	0.02689	T	-1.24	0.41809	N	0.272	0.30800	-0.9237	0.45041	T	0.006	0.02018	T	9	0.005342692	0.00117	T	0.001873	0.03272	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.0748868165562978	0.07424	0.0212270053355	0.02100	.	.	.	0.005786	0.05238	T	-0.263079	0.12541	T	-0.615671	0.11528	T	0.0270832638217685	0.01556	T	0.0117988	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.;.;.;.;.	.;.;.;.;.	0.350341	0.07236	3.832	0.38661603664306948	0.02621	0.00346	0.01789	N	AEFDBI	0.047591	0.08031	N	-1.52790676124202	0.01668	0.07297624	-1.64740577932005	0.01389	0.06277342	0.999998148091889	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.4	-4.8	0.02957	-1.006000	0.03781	.	.	-0.260000	0.06918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.4913:0.2218	5.563	0.16437	958	0.09170	Immunoglobulin subtype;.;.;.;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	0.004228	0.005051	0.002717	0.000000	0.000000	0.008621	0.003049	0.011364	0.08333	1204.83	521	chr19	54574901	.	T	G	1204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=3044;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=54.1;MQRankSum=-6.409;QD=2.75;ReadPosRankSum=-0.476;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:543,0:543:99:.:.:0,120,1800:.	5	0	1	0
chr19	54575411	54575411	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C775T:p.P259S,LILRA2:NM_001130917:exon5:c.C811T:p.P271S,LILRA2:NM_001290271:exon6:c.C811T:p.P271S,LILRA2:NM_006866:exon6:c.C811T:p.P271S	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00279553	0.0010	0	0	0.0006	0	5.998e-05	0.0011	0.0067	0.0005379	14	26028	rs544437859	2.054e-06	0.0002	1.362e-06	2.753e-06	0.0002	5.5e-07	1.5e-07	3.88e-06	1.45e-06	0	0	0	0	0	0.0002	0	0	2.338e-05	0.0002	0.0014	0.0002	0.0003	0.0053	0.0002	0.0001	0.0036	0.0031	4.818e-05	0	6.555e-05	0	0.0006	0	0	7.37e-05	0	0.0053	0.158	0.23905	T	0.501	0.17478	T	0.316	0.32901	B	0.18	0.43788	B	0.412649	0.04601	N	1.458510	1	0.08975	N	.	.	.	5.88	0.00632	T	-4.4	0.83695	D	0.067	0.04547	-0.9181	0.45811	T	0.004	0.01261	T	10	0.0032227635	0.00055	T	.	.	.	0.032	0.07718	0.222	0.14518	0.206339911435	0.20273	0.0510655434313226	0.05048	0.0197667107922	0.01940	.	.	.	0.067801	0.33295	T	-0.298551	0.08798	T	-0.666625	0.07826	T	0.571051776409149	0.35274	D	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.18910	B	.;.;.;.;.	.;.;.;.;.	0.278433	0.06553	3.041	0.98640014734058978	0.44042	0.00892	0.03507	N	AEFBI	0.065752	0.12842	N	-0.90955311105907	0.10617	0.5082488	-1.06013243658822	0.08496	0.4180606	0.996876830286367	0.35080	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	-0.757	0.10496	-0.154000	0.10116	.	.	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.5181:0.0:0.4819	4.691	0.12165	958	0.09170	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	.	.	.	.	.	.	.	.	0.08333	45.83	43	chr19	54575411	.	C	T	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-3.317;QD=0.47;ReadPosRankSum=-2.387;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,105,1575:.	5	0	1	0
chr19	54575414	54575414	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C778A:p.Q260K,LILRA2:NM_001130917:exon5:c.C814A:p.Q272K,LILRA2:NM_001290271:exon6:c.C814A:p.Q272K,LILRA2:NM_006866:exon6:c.C814A:p.Q272K	.	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00279553	0.0010	0	0	0.0005	0	7.5e-05	0.0011	0.0067	0.0005379	14	26028	rs561028150	2.739e-06	0.0002	1.362e-06	4.13e-06	0.0002	6.4e-07	4.3e-07	9.33e-06	4.59e-06	0	0	0	0	0	0.0002	0	0	3.512e-05	0.0002	0.0014	0.0002	0.0003	0.0053	0.0002	0.0001	0.0036	0.0031	4.817e-05	0	6.551e-05	0	0.0006	0	0	7.373e-05	0	0.0053	0.052	0.39097	T	0.217	0.33219	T	0.522	0.58077	P	0.301	0.64720	B	0.511507	0.05149	N	1.367040	1	0.08975	N	.	.	.	5.72	0.00726	T	-3.45	0.70067	D	0.169	0.17966	-0.9799	0.35025	T	0.011	0.03949	T	10	0.006888509	0.00156	T	.	.	.	0.022	0.04323	0.393	0.41770	0.376216005999	0.37235	0.059226354851520294	0.05862	0.019679029887	0.01931	.	.	.	0.05899	0.30995	T	-0.240409	0.15296	T	-0.583107	0.14269	T	0.615385353565216	0.37018	D	0.543646	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14888	B	.;.;.;.;.	.;.;.;.;.	1.538649	0.19735	14.41	0.94284781728304035	0.24582	0.01537	0.05053	N	AEFBI	0.079929	0.16152	N	-0.358116978636166	0.26975	1.476411	-0.630532475807744	0.18710	1.000723	0.997573302361132	0.35775	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.26	1.21	0.20240	0.032000	0.13620	.	.	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.0:0.8154:0.0:0.1846	4.761	0.12483	958	0.09170	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	.	.	.	.	.	.	.	.	0.08333	51.83	43	chr19	54575414	.	C	A	51.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.69;MQRankSum=-3.279;QD=0.54;ReadPosRankSum=-2.568;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,105,1575:.	5	0	1	0
chr19	54575501	54575501	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon4:c.C865T:p.L289F,LILRA2:NM_001130917:exon5:c.C901T:p.L301F,LILRA2:NM_001290271:exon6:c.C901T:p.L301F,LILRA2:NM_006866:exon6:c.C901T:p.L301F	.	3	1448	71	0	0	71	0.0239299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.0277556	0.0120	0.0143	0.0037	0.0068	0	0.0022	0.01	0.0637	0.0105109	1625	154602	rs113830659	0.0013	0.0054	0.0011	0.0016	0.0141	0.0013	0.0013	0.0131	0.0126	0.0141	0.0016	0	0.0021	1.872e-05	0.0067	0.0002	0.0022	0.0117	0.0072	0.0078	0.0064	0.0080	0.0610	0.0068	0.0067	0.0552	0.0530	0.0139	0	0.0052	0	0.0070	0	0.0068	0.0014	0.0061	0.0610	0.061	0.43708	T	0.116	0.41239	T	0.023	0.22415	B	0.366	0.43381	B	0.344518	0.04208	N	1.657160	1	0.08975	N	.	.	.	5.69	0.00751	T	-3.16	0.67359	D	0.035	0.03841	-0.9646	0.38290	T	0.003	0.00929	T	10	0.0024011433	0.00036	T	.	.	.	0.029	0.06676	.	.	.	.	0.019670339061872513	0.01920	0.10348319282	0.11702	.	.	.	0.055189	0.29935	T	-0.629256	0.00097	T	-0.663033	0.08063	T	0.0454464772058766	0.04683	T	0.0894911	0.00906	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.18206	B	.;.;.;.;.	.;.;.;.;.	0.427022	0.07975	4.688	0.99202920256972027	0.55351	0.00706	0.02994	N	AEFBI	0.076200	0.15323	N	-0.905288940404492	0.10717	0.5135226	-1.09411936741123	0.07815	0.3816683	0.997087644278911	0.35260	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.92	-1.1	0.09367	-2.213000	0.01308	.	.	-1.053000	0.01634	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4175:0.4415:0.141	4.704	0.12220	958	0.09170	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	0.030191	0.005051	0.027174	0.024590	0.000000	0.017241	0.024540	0.068702	0.08333	560.83	43	chr19	54575501	.	C	T	560.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=284;ExcessHet=0;FS=7.621;MLEAC=1;MLEAF=0.083;MQ=58.64;MQRankSum=-5.553;QD=7.38;ReadPosRankSum=3.16;SOR=1.824	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	5	0	1	0
chr19	54575936	54575937	GC	-	exonic	LILRA2	.	frameshift deletion	LILRA2:NM_001290270:exon5:c.1046_1047del:p.G349Afs*18,LILRA2:NM_001130917:exon6:c.1082_1083del:p.G361Afs*18,LILRA2:NM_001290271:exon7:c.1082_1083del:p.G361Afs*18,LILRA2:NM_006866:exon7:c.1082_1083del:p.G361Afs*18	.	7	1438	77	0	0	77	0.0260752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-05	0	0	0	0	0	0	0.0006	0.0001153	3	26028	rs746833739	4.692e-05	0.0041	3.701e-05	5.695e-05	0.0005	3.759e-05	3.441e-05	0.0004	0.0003	0	2.243e-05	0	0.0003	0	0.0004	8.134e-06	8.349e-05	0.0005	0.0014	0.0032	0.0011	0.0017	0.0312	0.0013	0.0012	0.0270	0.0254	0.0001	0	0.0007	0	0.0033	0	0.0034	0.0006	0.0010	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	337.79	41	chr19	54575935	.	GGC	G	337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=582;ExcessHet=0;FS=4.324;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-6.488;QD=1.66;ReadPosRankSum=-1.801;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1306:.	5	0	1	0
chr19	54575938	54575938	-	TT	exonic	LILRA2	.	frameshift insertion	LILRA2:NM_001290270:exon5:c.1048_1049insTT:p.H350Lfs*7,LILRA2:NM_001130917:exon6:c.1084_1085insTT:p.H362Lfs*7,LILRA2:NM_001290271:exon7:c.1084_1085insTT:p.H362Lfs*7,LILRA2:NM_006866:exon7:c.1084_1085insTT:p.H362Lfs*7	.	8	1437	77	0	0	77	0.0260928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-05	0	0	0	0	0	0	0.0006	0.0001153	3	26028	rs757134368	4.74e-05	0.0025	3.603e-05	5.89e-05	0.0005	3.798e-05	3.476e-05	0.0004	0.0003	0	2.245e-05	0	0.0003	0	0.0004	6.402e-06	0.0001	0.0005	0.0015	0.0032	0.0012	0.0018	0.0318	0.0013	0.0012	0.0275	0.0259	0.0001	0	0.0007	0	0.0033	0	0.0034	0.0006	0.0010	0.0318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	337.79	41	chr19	54575938	.	C	CTT	337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=580;ExcessHet=0;FS=4.324;MLEAC=1;MLEAF=0.083;MQ=59.55;MQRankSum=-6.488;QD=1.66;ReadPosRankSum=-2.767;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1306:.	5	0	1	0
chr19	54575951	54575951	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.A1061G:p.H354R,LILRA2:NM_001130917:exon6:c.A1097G:p.H366R,LILRA2:NM_001290271:exon7:c.A1097G:p.H366R,LILRA2:NM_006866:exon7:c.A1097G:p.H366R	.	7	1432	83	0	0	83	0.0281642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00200503799273	.	.	8.237e-05	0	0	0	0	0	0	0.0006	.	.	.	rs766774826	0.0001	0.0038	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0011	0	2.247e-05	0	0.0006	0	0.0009	2.713e-05	0.0002	0.0014	0.0019	0.0034	0.0015	0.0024	0.0408	0.0017	0.0017	0.0359	0.0341	0.0002	0	0.0009	0	0.0043	0	0.0034	0.0009	0.0014	0.0408	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.346922	0.13876	N	0.591975	1	0.08975	N	.	.	.	4.1	0.02944	T	1.74	0.01688	N	0.09	0.06854	-0.9345	0.43470	T	0.003	0.00961	T	9	0.0033362806	0.00058	T	0.002005	0.03615	T	0.009	0.00846	.	.	0.0401082797425	0.02173	0.019379866631937952	0.01891	0.0183386221983	0.01791	.	.	.	.	.	.	-0.718742	0.00028	T	-0.804246	0.01798	T	0.0519268294221934	0.05834	T	0.340266	0.07351	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00949	B	.;.;.;.	.;.;.;.	-1.506743	0.00291	0.005	0.29319223597066807	0.01549	0.00078	0.00535	N	AEFDBI	0.041291	0.06258	N	-1.9078500817018	0.00331	0.01420894	-1.96010492294087	0.00371	0.01637677	0.999986247722522	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.89	-3.78	0.04049	-1.524000	0.02337	.	.	-1.103000	0.01505	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7374:0.0:0.2626:0.0	8.195	0.30554	958	0.09170	.;.;.;Immunoglobulin|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	.	.	.	.	.	.	.	.	0.08333	566.83	41	chr19	54575951	.	A	G	566.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.192;DP=585;ExcessHet=0;FS=5.181;MLEAC=1;MLEAF=0.083;MQ=59.5;MQRankSum=-7.02;QD=2.67;ReadPosRankSum=-0.776;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1306:.	5	0	1	0
chr19	54575962	54575962	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1072C:p.E358Q,LILRA2:NM_001130917:exon6:c.G1108C:p.E370Q,LILRA2:NM_001290271:exon7:c.G1108C:p.E370Q,LILRA2:NM_006866:exon7:c.G1108C:p.E370Q	.	7	1434	81	0	0	81	0.0274669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820011916341	.	.	9.885e-05	0	0	0	0	0	0	0.0007	.	.	.	rs748996384	0.0003	0.0034	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	0.0010	3.744e-05	0.0016	3.159e-05	0.0003	0.0037	0.0022	0.0035	0.0018	0.0027	0.0468	0.0021	0.0020	0.0417	0.0397	0.0002	0	0.0011	0	0.0055	0	0.0068	0.0010	0.0014	0.0468	0.711	0.04226	T	0.816	0.26798	T	0.0	0.02946	B	0.009	0.14300	B	0.124018	0.02751	N	2.082370	1	0.08975	N	.	.	.	4.09	0.02973	T	0.24	0.04533	N	0.049	0.03841	-0.9304	0.44080	T	0.005	0.01542	T	9	0.0030996501	0.00051	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.115124310173	0.11017	0.03234789830465621	0.03182	0.0177436046835	0.01731	.	.	.	0.024564	0.18538	T	-0.412668	0.01908	T	-0.830546	0.01252	T	0.033527800751449	0.02558	T	0.119188	0.00918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.05623	B	.;.;.;.;.	.;.;.;.;.	-1.599909	0.00240	0.004	0.44068573390639976	0.03362	0.00054	0.00410	N	AEFDBI	0.051525	0.09111	N	-2.06848347437987	0.00150	0.006427303	-2.15654306598233	0.00140	0.006158041	0.999999765694489	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.72	-5.45	0.02411	-5.434000	0.00146	.	.	-4.283000	0.00034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1965:0.4278:0.3757:0.0	6.544	0.21596	958	0.09170	.;.;.;Immunoglobulin|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	738.83	41	chr19	54575962	.	G	C	738.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=594;ExcessHet=0;FS=4.612;MLEAC=1;MLEAF=0.083;MQ=59.45;MQRankSum=-6.962;QD=3.36;ReadPosRankSum=-0.541;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1306:.	5	0	1	0
chr19	54576061	54576061	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.C1171T:p.P391S,LILRA2:NM_001130917:exon6:c.C1207T:p.P403S,LILRA2:NM_001290271:exon7:c.C1207T:p.P403S,LILRA2:NM_006866:exon7:c.C1207T:p.P403S	.	6	1438	77	1	0	79	0.0267343	.	.	.	2364208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.000857787087528	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0003074	8	26028	rs182749996	0.0002	0.0033	0.0001	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	0	6.739e-05	0	0.0005	0	0.0028	2.791e-05	0.0002	0.0024	0.0015	0.0034	0.0010	0.0019	0.0317	0.0013	0.0013	0.0275	0.0259	9.63e-05	0	0.0005	0	0.0037	0	0.0068	0.0007	0.0019	0.0317	0.023	0.48642	D	0.038	0.57587	D	0.974	0.57829	D	0.677	0.53365	P	0.006683	0.31864	U	0.000000	1	0.08975	N	.	.	.	5.59	0.00834	T	-6.89	0.93257	D	0.134	0.26354	-0.9450	0.41814	T	0.006	0.02206	T	9	0.0064958334	0.00147	T	8.58E-4	0.00755	T	0.033	0.08068	.	.	0.32306181527	0.31918	0.1124112329446771	0.11170	0.023310643868	0.02366	.	.	.	0.152754	0.49329	T	-0.2361	0.15851	T	-0.576918	0.14820	T	0.564461350440979	0.35024	D	0.773323	0.40460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.43828	B	.;.;.;.;.	.;.;.;.;.	1.197033	0.15889	12.17	0.99322838956280968	0.59469	0.00409	0.02034	N	AEFBI	0.067726	0.13329	N	-0.495986366758654	0.22212	1.184427	-0.765696670117313	0.15337	0.806141	0.999580263717037	0.40607	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	0.020	0.13445	0.537000	0.22854	.	.	0.420000	0.20791	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5768:0.26:0.1632	3.655	0.07756	958	0.09170	.;.;.;Immunoglobulin|Immunoglobulin subtype;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	0.001514	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1306.83	41	chr19	54576061	.	C	T	1306.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=611;ExcessHet=0;FS=0.62;MLEAC=1;MLEAF=0.083;MQ=57.28;MQRankSum=-8.447;QD=5.51;ReadPosRankSum=0.634;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1306:.	5	0	1	0
chr19	54576095	54576095	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.A1205G:p.E402G,LILRA2:NM_001130917:exon6:c.A1241G:p.E414G,LILRA2:NM_001290271:exon7:c.A1241G:p.E414G,LILRA2:NM_006866:exon7:c.A1241G:p.E414G	.	4	1446	71	1	0	73	0.0246206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00130392659312	.	.	4.121e-05	0	0	0	0	0	0.0011	0.0002	7.68e-05	2	26028	rs752455085	2.474e-05	0.0021	1.092e-05	3.876e-05	0.0004	1.811e-05	1.608e-05	0.0003	0.0002	0	0	0	7.608e-05	0	0.0004	8.999e-07	1.663e-05	0.0004	0.0003	0.0023	0.0002	0.0004	0.0080	0.0003	0.0002	0.0059	0.0052	2.405e-05	0	6.551e-05	0	0.0006	0	0.0034	0.0001	0.0005	0.0080	0.009	0.57480	D	0.031	0.57104	D	0.024	0.19075	B	0.027	0.21085	B	0.797580	0.06750	N	1.150370	1	0.08975	N	.	.	.	5.52	0.00903	T	-5.14	0.84035	D	0.147	0.20660	-0.9529	0.40468	T	0.008	0.02842	T	10	0.020633489	0.00479	T	0.001304	0.01809	T	0.042	0.11227	.	.	0.258283824007	0.25425	0.17240846276338445	0.17160	0.0184478882932	0.01799	.	.	.	0.330799	0.70095	T	-0.218226	0.18237	T	-0.551243	0.17207	T	0.457700669765472	0.31081	T	0.411059	0.10645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.50826	B	.;.;.;.;.	.;.;.;.;.	2.429465	0.31252	18.69	0.97840096727954673	0.36325	0.01213	0.04311	N	AEFBI	0.105226	0.21032	N	-0.726366040770455	0.15282	0.7688647	-0.905613267457165	0.11962	0.6125532	0.99958621647327	0.40607	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-0.272	0.12280	-0.092000	0.11094	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.468:0.0:0.0:0.532	4.674	0.12089	958	0.09170	.;.;.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.08333	893.83	175	chr19	54576095	.	A	G	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.266;DP=1065;ExcessHet=0;FS=2.552;MLEAC=1;MLEAF=0.083;MQ=56.54;MQRankSum=-6.943;QD=4.3;ReadPosRankSum=-0.506;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0:193:99:.:.:0,120,1800:.	5	0	1	0
chr19	54576096	54576096	G	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1206T:p.E402D,LILRA2:NM_001130917:exon6:c.G1242T:p.E414D,LILRA2:NM_001290271:exon7:c.G1242T:p.E414D,LILRA2:NM_006866:exon7:c.G1242T:p.E414D	.	4	1446	71	1	0	73	0.0246206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00108645451657	.	.	4.121e-05	0	0	0	0	0	0.0011	0.0002	7.68e-05	2	26028	rs758002350	2.061e-05	0.0020	9.553e-06	3.183e-05	0.0003	1.462e-05	1.269e-05	0.0002	0.0002	0	0	0	5.072e-05	0	0.0002	8.999e-07	0	0.0003	0.0003	0.0022	0.0002	0.0004	0.0073	0.0002	0.0002	0.0053	0.0046	2.405e-05	0	6.548e-05	0	0.0006	0	0.0034	0.0001	0.0005	0.0073	0.012	0.55530	D	0.044	0.49663	D	0.236	0.30770	B	0.081	0.28987	B	0.797580	0.06750	N	1.150370	1	0.08975	N	.	.	.	5.58	0.00843	T	-2.37	0.52938	N	0.099	0.19190	-0.9764	0.35816	T	0.009	0.03359	T	10	0.022006541	0.00539	T	0.001086	0.01263	T	0.039	0.10176	0.25	0.18757	0.347438807231	0.34349	0.07781766450802029	0.07717	0.0362886815385	0.03832	.	.	.	0.045711	0.27205	T	-0.269126	0.11855	T	-0.624357	0.10846	T	0.0787913948567444	0.09832	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.49402	B	.;.;.;.;.	.;.;.;.;.	0.937480	0.13128	9.632	0.99576457625282155	0.72742	0.01009	0.03809	N	AEFBI	0.100134	0.20141	N	-0.560041468858656	0.20170	1.061327	-0.816668709967553	0.14091	0.7345222	0.999759161273011	0.42595	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-2.09	0.06831	-0.228000	0.09119	.	.	-0.354000	0.05547	0.029000	0.20367	0.000000	0.08366	0.037000	0.13953	0.1566:0.0:0.3828:0.4606	3.014	0.05685	958	0.09170	.;.;.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.08333	924.83	175	chr19	54576096	.	G	T	924.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=1063;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.083;MQ=56.47;MQRankSum=-6.991;QD=4.49;ReadPosRankSum=-0.56;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0:193:99:.:.:0,120,1800:.	5	0	1	0
chr19	54576100	54576100	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon5:c.G1210A:p.V404M,LILRA2:NM_001130917:exon6:c.G1246A:p.V416M,LILRA2:NM_001290271:exon7:c.G1246A:p.V416M,LILRA2:NM_006866:exon7:c.G1246A:p.V416M	.	5	1440	71	1	5	78	0.0247206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0011962674978	.	.	5.771e-05	0	0	0	0	4.501e-05	0.0011	0.0002	5.82e-05	9	154602	rs10408046	5.559e-05	0.0015	5.046e-05	6.079e-05	0.0003	4.558e-05	4.169e-05	0.0002	0.0002	0	0	0	5.063e-05	0	0	4.769e-05	3.321e-05	0.0003	0.0003	0.0019	0.0002	0.0003	0.0054	0.0002	0.0002	0.0037	0.0032	4.811e-05	0	6.552e-05	0	0.0006	0	0.0034	0.0001	0.0009	0.0054	0.253	0.16958	T	0.167	0.30828	T	0.205	0.29827	B	0.059	0.26602	B	0.020151	0.01526	N	3.622570	1	0.08975	N	.	.	.	5.62	0.00808	T	-1.36	0.35399	N	0.034	0.05037	-0.9468	0.41515	T	0.003	0.01092	T	10	0.015474051	0.00325	T	0.001196	0.01533	T	0.011	0.01250	.	.	0.141422826196	0.13715	0.05683966932661542	0.05624	0.0189071063277	0.01841	.	.	.	0.016665	0.13730	T	-0.499424	0.00576	T	-0.786036	0.02276	T	0.0920301612651367	0.11456	T	0.310069	0.06017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.27100	B	.;.;.;.;.	.;.;.;.;.	-0.320499	0.02529	0.302	0.90651536528474919	0.19903	0.00072	0.00504	N	AEFBI	0.055389	0.10154	N	-1.33766980411152	0.03254	0.1450588	-1.51445282475192	0.02233	0.1023704	0.999990549357188	0.74766	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-4.84	0.02920	-4.161000	0.00321	.	.	-1.328000	0.01220	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.6095:0.1766:0.2139:0.0	5.064	0.13908	958	0.09170	.;.;.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.08333	930.83	175	chr19	54576100	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=1061;ExcessHet=0;FS=1.586;MLEAC=1;MLEAF=0.083;MQ=56.44;MQRankSum=-6.933;QD=4.56;ReadPosRankSum=-1.043;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:193,0:193:99:.:.:0,120,1800:.	5	0	1	0
chr19	54577629	54577629	C	T	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.C1420T:p.H474Y	.	424	1072	26	0	0	26	0.0119816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs895049763	2.292e-05	0.0008	1.037e-05	3.598e-05	0.0003	1.594e-05	1.355e-05	0.0002	0.0002	0	3.543e-05	0	7.828e-05	0	0	0	2.415e-05	0.0003	0.0032	0.0037	0.0024	0.0041	0.0654	0.0030	0.0029	0.0594	0.0571	0.0003	0	0.0016	0	0.0066	0	0.0068	0.0015	0.0028	0.0654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.83	34	chr19	54577629	.	C	T	100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.71;MQRankSum=-4.726;QD=1.74;ReadPosRankSum=-1.107;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1163:.	5	0	1	0
chr19	54577671	54577671	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.G1462C:p.G488R	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010842092	3.708e-05	0.0006	2.423e-05	5.048e-05	0.0005	2.777e-05	2.462e-05	0.0004	0.0003	0	0	0	0.0002	0	0	3.262e-06	4.84e-05	0.0005	0.0025	0.0037	0.0018	0.0033	0.0541	0.0023	0.0022	0.0486	0.0464	0.0002	0	0.0014	0	0.0053	0	0	0.0010	0.0028	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.83	34	chr19	54577671	.	G	C	99.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.78;MQRankSum=-4.171;QD=1.47;ReadPosRankSum=1.95;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1163:.	5	0	1	0
chr19	54577674	54577674	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290271:exon8:c.C1465A:p.H489N	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1022519764	4.771e-05	0.0006	2.943e-05	6.674e-05	0.0006	3.737e-05	3.347e-05	0.0005	0.0004	0	0	0	0.0002	0	0.0002	4.351e-06	4.841e-05	0.0006	0.0024	0.0037	0.0017	0.0032	0.0521	0.0022	0.0022	0.0467	0.0446	0.0002	0	0.0014	0	0.0051	0	0	0.0010	0.0028	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	96.83	34	chr19	54577674	.	C	A	96.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.987;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.78;MQRankSum=-4.205;QD=1.4;ReadPosRankSum=2.06;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1163:.	5	0	1	0
chr19	54587210	54587210	G	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1229C:p.G410A,LILRA2:NM_001130917:exon8:c.G1316C:p.G439A,LILRA2:NM_006866:exon8:c.G1265C:p.G422A	.	426	1032	64	0	0	64	0.0300752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0139776	0.0085	0.0002	0.0010	0.0044	0	0.0011	0.0077	0.0543	0.0029968	78	26028	rs549778374	0.0032	0.0048	0.0019	0.0045	0.0423	0.0031	0.0031	0.0411	0.0406	0.0002	0.0016	3.827e-05	0.0072	5.616e-05	0.0098	0.0005	0.0030	0.0423	0.0036	0.0038	0.0026	0.0046	0.0718	0.0034	0.0033	0.0655	0.0631	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0718	0.672	0.06648	T	0.432	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	6.93	0.00476	T	-1.11	0.28703	N	0.069	0.14480	-0.9664	0.37934	T	0.000	0.00152	T	9	0.0043988824	0.00089	T	.	.	.	0.021	0.04004	.	.	0.144782658237	0.14088	0.09380951238612284	0.09312	0.0177545150975	0.01741	.	.	.	0.00909	0.08297	T	-0.715138	0.00030	T	-0.789635	0.02174	T	0.00213305777738344	0.00022	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.15743	B	.;.;.;.;.	.;.;.;.;.	-1.276378	0.00458	0.010	0.60115433686689967	0.06385	0.00015	0.00188	N	AEFDBI	0.030682	0.03135	N	-1.75934251174026	0.00652	0.02814231	-1.78598076850476	0.00805	0.03593392	0.0102067649705677	0.11985	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-4.57	0.03178	-2.931000	0.00754	.	.	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3836:0.2676:0.2001:0.1487	0.800	0.01005	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1873.83	40	chr19	54587210	.	G	C	1873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=435;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=59.54;MQRankSum=-6.466;QD=7.32;ReadPosRankSum=-0.959;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1266:.	5	0	1	0
chr19	54587213	54587213	A	C	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.A1232C:p.Q411P,LILRA2:NM_001130917:exon8:c.A1319C:p.Q440P,LILRA2:NM_006866:exon8:c.A1268C:p.Q423P	.	430	1028	64	0	0	64	0.0301887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.0139776	0.0085	0.0002	0.0010	0.0046	0	0.0011	0.0077	0.0542	0.0029968	78	26028	rs570066633	0.0032	0.0049	0.0019	0.0045	0.0424	0.0031	0.0031	0.0412	0.0407	0.0002	0.0016	3.826e-05	0.0073	5.616e-05	0.0104	0.0005	0.0031	0.0424	0.0037	0.0038	0.0027	0.0047	0.0727	0.0034	0.0033	0.0664	0.0639	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0727	0.515	0.25055	T	0.316	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.04	0.00469	T	0.76	0.01978	N	0.118	0.12198	-1.0122	0.26228	T	0.001	0.00255	T	9	0.003727883	0.00069	T	.	.	.	0.030	0.07022	.	.	0.124217242631	0.12060	0.07027568206350028	0.06964	0.0193832374555	0.01897	.	.	.	0.002322	0.01720	T	-0.625162	0.00102	T	-0.66039	0.08240	T	0.0015371141011766	0.00015	T	0.188181	0.01975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02173	B	.;.;.;.;.	.;.;.;.;.	0.096213	0.04987	1.547	0.54791310513740121	0.05209	0.00011	0.00159	N	AEFDBI	0.028505	0.02523	N	-1.34639214785518	0.03162	0.1408191	-1.34854468875994	0.03823	0.1791178	9.66727770407858E-4	0.08067	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	1.38	0.21262	1.052000	0.30039	.	.	-0.210000	0.08370	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3078:0.6922:0.0:0.0	6.258	0.20093	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1957.83	40	chr19	54587213	.	A	C	1957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=437;ExcessHet=0;FS=3.374;MLEAC=1;MLEAF=0.083;MQ=59.54;MQRankSum=-6.358;QD=7.59;ReadPosRankSum=-2.08;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1266:.	5	0	1	0
chr19	54587219	54587219	C	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.C1238A:p.P413H,LILRA2:NM_001130917:exon8:c.C1325A:p.P442H,LILRA2:NM_006866:exon8:c.C1274A:p.P425H	.	429	1029	64	0	0	64	0.0301602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.0084	0.0002	0.0009	0.0046	0	0.0011	0.0077	0.0540	0.0003458	9	26028	rs757517756	0.0033	0.0049	0.0019	0.0046	0.0434	0.0032	0.0032	0.0422	0.0418	0.0003	0.0016	3.826e-05	0.0074	5.616e-05	0.0102	0.0005	0.0030	0.0434	0.0037	0.0038	0.0027	0.0047	0.0728	0.0034	0.0033	0.0665	0.0640	0.0003	0	0.0019	0	0.0083	0	0.0068	0.0017	0.0028	0.0728	0.031	0.49117	D	0.024	0.83351	D	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	6.96	0.00496	T	-3.18	0.64478	D	0.147	0.23758	-0.9246	0.44915	T	0.002	0.00556	T	9	0.0040231645	0.00078	T	.	.	.	0.023	0.04649	.	.	0.265010934533	0.26120	0.08363448061014937	0.08297	0.0181420124774	0.01770	.	.	.	0.073248	0.34652	T	-0.593347	0.00160	T	-0.617259	0.11401	T	0.0110382643311224	0.00160	T	0.0684932	0.00500	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.14568	B	.;.;.;.;.	.;.;.;.;.	0.450593	0.08207	4.944	0.82313487806081187	0.14128	0.00784	0.03216	N	AEFDBI	0.064107	0.12430	N	-1.14084117663319	0.05931	0.2717583	-1.27493329256418	0.04772	0.2258879	8.02504946794768E-4	0.07842	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.47	-1.27	0.08863	-1.384000	0.02648	.	.	-0.209000	0.08382	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2408:0.4544:0.0:0.3048	2.320	0.03951	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2041.83	40	chr19	54587219	.	C	A	2041.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.708;DP=444;ExcessHet=0;FS=6.03;MLEAC=1;MLEAF=0.083;MQ=59.56;MQRankSum=-6.266;QD=7.71;ReadPosRankSum=-2.091;SOR=1.079	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1266:.	5	0	1	0
chr19	54587228	54587228	A	G	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.A1247G:p.Y416C,LILRA2:NM_001130917:exon8:c.A1334G:p.Y445C,LILRA2:NM_006866:exon8:c.A1283G:p.Y428C	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	0.0002	.	0.0083	0.0002	0.0008	0.0044	0	0.0010	0.0077	0.0535	0.000461	12	26028	rs200534443	0.0035	0.0049	0.0021	0.0051	0.0470	0.0035	0.0034	0.0458	0.0453	0.0003	0.0019	3.826e-05	0.0075	5.616e-05	0.0110	0.0005	0.0033	0.0470	0.0037	0.0038	0.0027	0.0047	0.0731	0.0034	0.0033	0.0668	0.0643	0.0003	0	0.0018	0	0.0081	0	0.0068	0.0017	0.0033	0.0731	0.004	0.65419	D	0.023	0.72224	D	0.998	0.73220	D	0.818	0.58969	P	0.000522	0.00629	U	911.360000	0.999937	0.42117	N	.	.	.	6.69	0.00504	T	-3.17	0.64363	D	0.359	0.44187	-1.0001	0.29888	T	0.009	0.03183	T	10	0.004475504	0.00092	T	.	.	.	0.225	0.52323	.	.	0.471211772063	0.46748	0.1776919267007496	0.17688	0.0586717605693	0.06507	.	.	.	0.071706	0.34273	T	-0.433147	0.01419	T	-0.371965	0.36659	T	0.0639146030096494	0.07769	T	0.812919	0.46506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.43102	B	.;.;.;.;.	.;.;.;.;.	2.547780	0.32967	19.20	0.98939825574754436	0.48921	0.07757	0.13756	N	AEFDBI	0.097065	0.19584	N	-0.00486300647389826	0.41634	2.493883	-0.283156857015773	0.28652	1.599245	0.00725477327334399	0.11422	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	2.74	0.31352	1.548000	0.35808	.	.	0.717000	0.85348	0.247000	0.24819	0.001000	0.17328	0.061000	0.16044	1.0:0.0:0.0:0.0	7.206	0.25083	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.011364	0.08333	2024.83	40	chr19	54587228	.	A	G	2024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.94;DP=456;ExcessHet=0;FS=7.056;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=-6.277;QD=7.5;ReadPosRankSum=-2.285;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1266:.	5	0	1	0
chr19	54594440	54594440	G	C	splicing	LILRA1	NM_001278318:exon3:c.35-1G>C;NM_006863:exon3:c.35-1G>C;NM_001278319:exon2:c.35-1G>C	.	.	.	1	1492	29	0	0	29	0.00962496	1.0000	0.748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417674707	4.949e-05	0.0019	3.552e-05	6.363e-05	0.0006	4.011e-05	3.686e-05	0.0004	0.0004	0	0	0	0.0006	0	0.0004	0	1.662e-05	0.0006	0.0006	0.0034	0.0004	0.0008	0.0078	0.0005	0.0005	0.0058	0.0051	0.0005	0	6.549e-05	0	0.0078	0	0	0.0001	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0855423	0.38811	T	-0.360652	0.37978	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.226708	0.87732	29.3	0.90370659406492138	0.19634	0.74118	0.36254	D	AEFBI	.	.	.	0.541375888717599	0.69559	5.374106	0.236263770894729	0.51872	3.366076	0.999904534571354	0.45458	0.228283	0.04149	0	0.429362	0.06391	1	0.063197	0.01477	0	0.057018	0.00518	0	0.222727	0.31436	1.76	1.76	0.23776	1.253000	0.32488	.	.	0.507000	0.23093	0.975000	0.34726	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	7.048	0.24237	952	0.10565	.;.	.	.	.	.	.	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	104.83	244	chr19	54594440	.	G	C	104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.776;DP=1333;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.083;MQ=55.74;MQRankSum=-7.974;QD=0.54;ReadPosRankSum=1.73;SOR=0.569	GT:AD:DP:GQ:PL	0/0:245,0:245:99:0,120,1800	5	0	1	0
chr19	54595382	54595382	T	G	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon4:c.T641G:p.L214R,LILRA1:NM_001278318:exon5:c.T641G:p.L214R,LILRA1:NM_006863:exon5:c.T641G:p.L214R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00420279161482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442173969	6.857e-07	1.3e-05	0	1.379e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	2.627e-05	0.0001	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.083	0.37966	T	0.031	0.64786	D	0.901	0.73220	P	0.558	0.66722	P	0.284248	0.14888	N	0.594977	0.999954	0.35548	N	2.205	0.62170	M	5.74	0.00711	T	-2.67	0.59059	D	0.166	0.20528	-0.9826	0.34398	T	0.008	0.02884	T	10	0.21389809	0.37895	T	0.004203	0.10121	T	0.067	0.19503	0.679	0.81691	0.185906805712	0.18197	0.03388496608731282	0.03336	0.0983039149079	0.11101	0.284378826618	0.08110	T	0.003563	0.02970	T	-0.242197	0.15070	T	-0.585676	0.14043	T	0.840672850608826	0.49383	D	.	.	.	0.228602	0.45582	0.24163058	0.49565	0.228602	0.45582	0.24163058	0.49564	-5.025	0.40180	T	.	.	0.095	0.14842	B	.;.	.;.	2.527620	0.32673	19.11	0.98980548650742928	0.49720	0.02156	0.06336	N	AEFDBI	0.071052	0.14128	N	-0.402471755776382	0.25382	1.377445	-0.691630767030828	0.17169	0.9117404	0.999583597308691	0.40607	0.609539	0.35627	0	0.493711	0.08144	1	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.24	-0.3	0.12169	-0.544000	0.06166	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.637000	0.32341	0.0:0.6114:0.0:0.3886	4.859	0.12936	946	0.12043	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	.	.	.	.	.	.	.	.	0.08333	40.83	149	chr19	54595382	.	T	G	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.054;DP=857;ExcessHet=0;FS=29.545;MLEAC=1;MLEAF=0.083;MQ=57.07;MQRankSum=-12.11;QD=0.18;ReadPosRankSum=2.77;SOR=1.329	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	5	0	1	0
chr19	54631589	54631589	G	T	exonic	LILRB1	.	stopgain	LILRB1:NM_001081637:exon4:c.G160T:p.E54X,LILRB1:NM_001081638:exon4:c.G160T:p.E54X,LILRB1:NM_001081639:exon4:c.G160T:p.E54X,LILRB1:NM_001278398:exon4:c.G160T:p.E54X,LILRB1:NM_001278399:exon4:c.G160T:p.E54X,LILRB1:NM_006669:exon5:c.G160T:p.E54X	.	32	1469	21	0	0	21	0.00709699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181433469	0.0018	0.0042	0.0011	0.0025	0.0230	0.0017	0.0017	0.0222	0.0218	8.962e-05	0.0001	3.828e-05	0.0148	0	0.0009	5.577e-05	0.0016	0.0230	0.0012	0.0026	0.0008	0.0015	0.0190	0.0010	0.0010	0.0159	0.0147	0	0	0.0001	0	0.0190	0	0	4.411e-05	0.0005	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.752055	0.09692	N	0.872191	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.417	0.46928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0991399	0.36568	T	-0.380184	0.35699	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant;.;.	.;.;.;.;High;.;.	3.554869	0.49988	22.9	0.96286080431052368	0.29298	0.07882	0.13872	N	AEFDBCI	0.054551	0.09929	N	-0.397819700259343	0.25546	1.387562	-0.837046828815394	0.13599	0.70634	0.999979772756281	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.11	-1.63	0.07900	-0.452000	0.06861	.	.	-2.903000	0.00161	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3319:0.24:0.4282:0.0	2.913	0.05390	809	0.43032	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	765.83	249	chr19	54631589	.	G	T	765.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.199;DP=1507;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.083;MQ=58.17;MQRankSum=-6.436;QD=2.81;ReadPosRankSum=2.49;SOR=0.97	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	5	0	1	0
chr19	54636844	54636844	T	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001278398:exon14:c.T1871A:p.V624E,LILRB1:NM_001081637:exon15:c.T1925A:p.V642E,LILRB1:NM_001081638:exon15:c.T1922A:p.V641E,LILRB1:NM_001081639:exon15:c.T1922A:p.V641E,LILRB1:NM_006669:exon16:c.T1919A:p.V640E	.	12	1457	53	0	0	53	0.0178632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0373403	0.0174	0.0731	0.0047	0.0042	0	0.0022	0.0099	0.0666	0.001229	190	154602	rs200208553	0.0029	0.0066	0.0022	0.0036	0.0311	0.0028	0.0028	0.0301	0.0297	0.0206	0.0027	3.835e-05	0.0010	5.617e-05	0.0062	0.0006	0.0042	0.0311	0.0005	0.0037	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0005	0	0.0001	0	0.0010	0	0	0.0002	0	0.0079	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.72	0.00354	T	2.75	0.00255	N	0.101	0.14196	-0.9267	0.44616	T	0.000	0.00039	T	9	0.0038897693	0.00074	T	.	.	.	0.047	0.12962	.	.	.	.	0.01539496993135938	0.01495	0.0875308799902	0.09869	0.356790602207	0.18917	T	0.002021	0.02217	T	-0.666268	0.00058	T	-0.700548	0.05796	T	0.00808306671237689	0.00096	T	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00112	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.101727	0.03631	0.720	0.43902963067046641	0.03338	0.00018	0.00208	N	AEFDBI	0.043169	0.06790	N	-2.03654416394117	0.00176	0.007556117	-1.94011838139244	0.00407	0.01799656	6.62834000225161E-4	0.07575	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.1	-0.185	0.12624	0.236000	0.17745	.	.	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5571:0.0:0.1723:0.2706	1.912	0.03089	814	0.42100	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.030715	0.010101	0.036685	0.020468	0.000000	0.025862	0.027439	0.056818	0.08333	437.83	39	chr19	54636844	.	T	A	437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.36;DP=352;ExcessHet=0;FS=1.614;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-10.64;QD=2.67;ReadPosRankSum=-1.229;SOR=0.886	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1231.83	431	chr19	54739533	.	C	A	1231.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.475;DP=927;ExcessHet=0;FS=2.315;MLEAC=1;MLEAF=0.083;MQ=53.98;MQRankSum=0.868;QD=2.86;ReadPosRankSum=-0.133;SOR=0.477	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	5	0	1	0
chr19	54741995	54741995	-	GGGG	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	frameshift insertion	KIR2DS2:NM_001291695:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DS2:NM_001291701:exon3:c.86_87insGGGG:p.S30Gfs*39,LOC102725023:NM_001360171:exon3:c.86_87insGGGG:p.S30Gfs*28,KIR2DS2:NM_012312:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DS3:NM_012313:exon3:c.86_87insGGGG:p.S30Gfs*28,KIR2DL1:NM_014218:exon3:c.86_87insGGGG:p.P29fs,KIR2DL2:NM_014219:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DL3:NM_015868:exon3:c.86_87insGGGG:p.S30Gfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.79	175	chr19	54741995	.	C	CGGGG	32.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.892;DP=894;ExcessHet=0;FS=40.556;MLEAC=1;MLEAF=0.083;MQ=41.87;MQRankSum=-1.006;QD=0.26;ReadPosRankSum=1.72;SOR=5.38	GT:AD:DP:GQ:PL	0/1:117,11:137:43:43,0,4862	5	0	1	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1758.83	269	chr19	54752378	.	A	T	1758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.251;DP=1123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.62;MQRankSum=-15.59;QD=6.54;ReadPosRankSum=1.21;SOR=0.71	GT:AD:DP:GQ:PL	0/0:315,0:315:99:0,120,1800	5	0	1	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2401.83	321	chr19	54752434	.	G	C	2401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.156;DP=1173;ExcessHet=0;FS=22.174;MLEAC=1;MLEAF=0.083;MQ=56.4;MQRankSum=-17.36;QD=7.48;ReadPosRankSum=1.37;SOR=1.163	GT:AD:DP:GQ:PL	0/0:315,0:315:99:0,120,1800	5	0	1	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2821.83	309	chr19	54752445	.	C	T	2821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.018;DP=1164;ExcessHet=0;FS=24.987;MLEAC=1;MLEAF=0.083;MQ=56.61;MQRankSum=-17.03;QD=9.13;ReadPosRankSum=0.214;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:315,0:315:99:.:.:0,120,1800:.	5	0	1	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	287	chr19	54752485	.	T	C	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.18;DP=572;ExcessHet=0;FS=50.471;MLEAC=1;MLEAF=0.083;MQ=56.87;MQRankSum=-16.81;QD=4.91;ReadPosRankSum=-0.701;SOR=3.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	5	0	1	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	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	.	.	.	.	.	.	.	.	0.08333	887.83	255	chr19	54752511	.	G	A	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.54;DP=543;ExcessHet=0;FS=51.905;MLEAC=1;MLEAF=0.083;MQ=57.35;MQRankSum=-15.88;QD=3.48;ReadPosRankSum=-1.753;SOR=4.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:99:.:.:0,120,1800:.	5	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	331.83	305	chr19	54760643	.	A	G	331.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=619;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.5;MQRankSum=-5.697;QD=1.09;ReadPosRankSum=-4.027;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	370.83	307	chr19	54760651	.	G	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.464;DP=622;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.8;MQRankSum=-6.006;QD=1.21;ReadPosRankSum=-2.486;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	556.83	305	chr19	54760665	.	T	C	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.286;DP=620;ExcessHet=0;FS=0.7;MLEAC=1;MLEAF=0.083;MQ=54.5;MQRankSum=-6.894;QD=1.83;ReadPosRankSum=-0.673;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	610.83	287	chr19	54760676	.	T	A	610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.02;DP=602;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.69;MQRankSum=-8.093;QD=2.13;ReadPosRankSum=1.31;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	646.83	275	chr19	54760692	.	A	G	646.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.064;DP=462;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.07;MQRankSum=-8.808;QD=2.35;ReadPosRankSum=3.46;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	273	chr19	54760695	.	T	C	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.526;DP=463;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.08;MQRankSum=-8.757;QD=2.39;ReadPosRankSum=3.88;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54763902	54763902	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon5:c.A676C:p.N226H	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000393349960663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	4.173e-05	1.363e-06	5.505e-06	5.808e-05	1e-06	7.3e-07	2.197e-05	1.432e-05	0	0	0	0	0	0	0	0	5.808e-05	6.601e-06	6.568e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	313.83	655	chr19	54763902	.	A	C	313.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.611;DP=1287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=50.9;MQRankSum=-0.722;QD=0.48;ReadPosRankSum=-1.863;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800:.	5	0	1	0
chr19	54763914	54763914	T	G	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon5:c.T688G:p.S230A	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000684018446712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.83	685	chr19	54763914	.	T	G	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=1325;ExcessHet=0;FS=2.183;MLEAC=1;MLEAF=0.083;MQ=51.11;MQRankSum=-1.533;QD=0.61;ReadPosRankSum=0.015;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800:.	5	0	1	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.83	474	chr19	54767342	.	T	C	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=669;ExcessHet=0;FS=1.106;MLEAC=1;MLEAF=0.083;MQ=58.53;MQRankSum=-21.42;QD=0.1;ReadPosRankSum=-1.224;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	745.83	639	chr19	54773510	.	C	G	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=869;ExcessHet=0;FS=10.441;MLEAC=1;MLEAF=0.083;MQ=58.33;MQRankSum=-18.41;QD=1.17;ReadPosRankSum=4.58;SOR=2.026	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	5	0	1	0
chr19	54778623	54778623	A	C	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.A676C:p.N226H,KIR2DL1:NM_014218:exon5:c.A676C:p.N226H,KIR2DL2:NM_014219:exon5:c.A676C:p.N226H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00151694013669	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878909395	0.0002	0.0007	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	6.174e-05	0	0	0	0	0.0004	2.774e-06	0.0002	0.0041	0.0005	0.0007	0.0003	0.0007	0.0163	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0	0	0	1.521e-05	0	0.0163	0.032	0.46129	D	0.068	0.44106	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	7.2	0.00437	T	-1.71	0.40660	N	0.135	0.14480	-0.9464	0.41582	T	0.002	0.00497	T	8	0.007816225	0.00177	T	0.001517	0.02369	T	0.086	0.25016	0.202	0.11659	0.210429274316	0.20668	0.05328788543094235	0.05270	2.46387727901	0.97434	0.387758374214	0.23353	T	0.02304	0.17656	T	-0.241123	0.15206	T	-0.584133	0.14177	T	0.165323646165335	0.18256	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	0.676890	0.10455	7.172	0.90949609105773266	0.20198	0.00298	0.01590	N	AEFBI	0.037202	0.05080	N	-1.25996812375637	0.04169	0.1876777	-1.47659125624119	0.02537	0.1168652	4.3534079721304E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.824	0.10266	1.149000	0.31238	.	.	-0.361000	0.05505	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1324.83	290	chr19	54778623	.	A	C	1324.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.036;DP=547;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=48.8;MQRankSum=-5.195;QD=4.57;ReadPosRankSum=-0.738;SOR=0.817	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	54778635	54778635	T	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.T688G:p.S230A,KIR2DL1:NM_014218:exon5:c.T688G:p.S230A,KIR2DL2:NM_014219:exon5:c.T688G:p.S230A	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00119571320954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs556830915	0.0003	0.0007	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	3.087e-05	0	0	0	0	0.0004	9.246e-07	0.0002	0.0042	0.0005	0.0007	0.0003	0.0007	0.0167	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	1.521e-05	0	0.0167	0.0	0.91255	D	0.222	0.25748	T	0.937	0.52445	P	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	7.15	0.00440	T	-1.21	0.35597	N	0.126	0.13769	-0.9477	0.41364	T	0.003	0.00864	T	8	0.013478994	0.00286	T	0.001196	0.01533	T	0.030	0.07022	0.301	0.26843	0.393927044628	0.39002	0.03714688347856771	0.03661	1.75585914569	0.91042	0.386773377657	0.23213	T	0.022783	0.17502	T	-0.217446	0.18342	T	-0.550122	0.17315	T	0.18637554833915	0.19628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13127	B	.;.	.;.	1.705097	0.21718	15.32	0.90821795015436779	0.20070	0.00184	0.01074	N	AEFBI	0.037914	0.05286	N	-0.64319559175856	0.17659	0.9105616	-0.965880461190126	0.10557	0.5324558	2.02422257672135E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.842	0.10204	-0.430000	0.07043	.	.	0.421000	0.20799	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1327.83	309	chr19	54778635	.	T	G	1327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.06;DP=570;ExcessHet=0;FS=3.218;MLEAC=1;MLEAF=0.083;MQ=48.85;MQRankSum=-5.498;QD=4.3;ReadPosRankSum=-0.84;SOR=0.939	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	637.83	263	chr19	54805015	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.599;DP=444;ExcessHet=0;FS=7.3;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=-11.06;QD=2.43;ReadPosRankSum=-1.064;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1268:.	5	0	1	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	754.83	269	chr19	54805016	.	T	A	754.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.055;DP=450;ExcessHet=0;FS=8.344;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-10.64;QD=2.81;ReadPosRankSum=-0.946;SOR=1.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1268:.	5	0	1	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1030.83	267	chr19	54805024	.	A	G	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.902;DP=448;ExcessHet=0;FS=5.077;MLEAC=1;MLEAF=0.083;MQ=59.19;MQRankSum=-10.59;QD=3.86;ReadPosRankSum=-1.632;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1268:.	5	0	1	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1118.83	273	chr19	54805033	.	C	T	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.352;DP=461;ExcessHet=0;FS=7.282;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=-10.85;QD=4.1;ReadPosRankSum=0.13;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1268:.	5	0	1	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1449.83	262	chr19	54805068	.	A	G	1449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.724;DP=446;ExcessHet=0;FS=2.541;MLEAC=1;MLEAF=0.083;MQ=58.56;MQRankSum=-10.52;QD=5.53;ReadPosRankSum=1.08;SOR=0.519	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	5	0	1	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1708.83	251	chr19	54805957	.	A	T	1708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=552;ExcessHet=0;FS=1.209;MLEAC=1;MLEAF=0.083;MQ=55.92;MQRankSum=-15.69;QD=6.81;ReadPosRankSum=0.694;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	5	0	1	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1903.83	261	chr19	54805960	.	A	G	1903.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=562;ExcessHet=0;FS=2.593;MLEAC=1;MLEAF=0.083;MQ=55.81;MQRankSum=-15.98;QD=7.29;ReadPosRankSum=0.859;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	5	0	1	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2368.83	286	chr19	54805974	.	A	T	2368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=587;ExcessHet=0;FS=2.378;MLEAC=1;MLEAF=0.083;MQ=56.04;MQRankSum=-15.94;QD=8.28;ReadPosRankSum=0.738;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	5	0	1	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.08333	2681.83	314	chr19	54805981	.	G	A	2681.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=616;ExcessHet=0;FS=2.2;MLEAC=1;MLEAF=0.083;MQ=56.12;MQRankSum=-16.21;QD=8.54;ReadPosRankSum=1.09;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3575.83	390	chr19	54806034	.	C	A	3575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.183;DP=1568;ExcessHet=0;FS=3.058;MLEAC=1;MLEAF=0.083;MQ=56.26;MQRankSum=-16.88;QD=9.17;ReadPosRankSum=2.65;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3572.83	391	chr19	54806035	.	A	G	3572.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.306;DP=1568;ExcessHet=0;FS=3.061;MLEAC=1;MLEAF=0.083;MQ=56.3;MQRankSum=-16.91;QD=9.14;ReadPosRankSum=2.77;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3171.83	378	chr19	54806051	.	C	G	3171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.758;DP=1556;ExcessHet=0;FS=4.607;MLEAC=1;MLEAF=0.083;MQ=56.76;MQRankSum=-16.43;QD=8.39;ReadPosRankSum=3.72;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2838.79	384	chr19	54806072	.	GGA	G	2838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=1568;ExcessHet=0;FS=11.504;MLEAC=1;MLEAF=0.083;MQ=57.15;MQRankSum=-16.43;QD=7.39;ReadPosRankSum=2.36;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2838.79	384	chr19	54806075	.	A	AGG	2838.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=1567;ExcessHet=0;FS=11.504;MLEAC=1;MLEAF=0.083;MQ=57.18;MQRankSum=-16.43;QD=7.39;ReadPosRankSum=1.84;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2852.83	402	chr19	54806086	.	T	C	2852.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.522;DP=1584;ExcessHet=0;FS=7.396;MLEAC=1;MLEAF=0.083;MQ=57.12;MQRankSum=-16.99;QD=7.1;ReadPosRankSum=-1.556;SOR=1.147	GT:AD:DP:GQ:PL	0/0:247,0:247:99:0,120,1800	5	0	1	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2600.83	374	chr19	54806109	.	A	G	2600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.22;DP=1555;ExcessHet=0;FS=7.601;MLEAC=1;MLEAF=0.083;MQ=57.41;MQRankSum=-16.09;QD=6.95;ReadPosRankSum=-4.599;SOR=1.119	GT:AD:DP:GQ:PL	0/0:247,0:247:99:0,120,1800	5	0	1	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	253.83	364	chr19	54806112	.	A	G	253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.302;DP=1545;ExcessHet=0;FS=3.835;MLEAC=1;MLEAF=0.083;MQ=57.54;MQRankSum=-12.34;QD=0.7;ReadPosRankSum=-3.318;SOR=1.013	GT:AD:DP:GQ:PL	0/0:247,0:247:99:0,120,1800	5	0	1	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	277.83	293	chr19	54806161	.	A	G	277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=1475;ExcessHet=0;FS=19.807;MLEAC=1;MLEAF=0.083;MQ=58.54;MQRankSum=-17.07;QD=0.95;ReadPosRankSum=3.88;SOR=2.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	211.83	300	chr19	54806170	.	G	C	211.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=1475;ExcessHet=0;FS=19.712;MLEAC=1;MLEAF=0.083;MQ=58.66;MQRankSum=-17.27;QD=0.71;ReadPosRankSum=3.38;SOR=2.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	361.83	295	chr19	54806184	.	T	C	361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.85;DP=1472;ExcessHet=0;FS=18.569;MLEAC=1;MLEAF=0.083;MQ=58.48;MQRankSum=-17.12;QD=1.23;ReadPosRankSum=0.778;SOR=2.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	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	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	424.83	289	chr19	54806191	.	G	A	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.262;DP=1462;ExcessHet=0;FS=20.582;MLEAC=1;MLEAF=0.083;MQ=58.37;MQRankSum=-16.94;QD=1.47;ReadPosRankSum=-1.463;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	5	0	1	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2452.83	318	chr19	54808838	.	C	T	2452.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.11;DP=525;ExcessHet=0;FS=1.613;MLEAC=1;MLEAF=0.083;MQ=57.08;MQRankSum=-16.86;QD=7.71;ReadPosRankSum=0.556;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2704.79	339	chr19	54808850	.	TGG	T	2704.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=546;ExcessHet=0;FS=2.788;MLEAC=1;MLEAF=0.083;MQ=57.32;MQRankSum=-16.19;QD=7.98;ReadPosRankSum=-0.336;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2671.79	335	chr19	54808853	.	C	CAT	2671.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.971;DP=546;ExcessHet=0;FS=2.804;MLEAC=1;MLEAF=0.083;MQ=57.39;MQRankSum=-16.07;QD=7.98;ReadPosRankSum=-0.682;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	5	0	1	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.08333	3128.83	342	chr19	54808875	.	T	C	3128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.67;DP=562;ExcessHet=0;FS=3.302;MLEAC=1;MLEAF=0.083;MQ=57.82;MQRankSum=-14.26;QD=9.15;ReadPosRankSum=-3.27;SOR=0.892	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2110.83	323	chr19	54855625	.	A	T	2110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.217;DP=536;ExcessHet=0;FS=0.495;MLEAC=1;MLEAF=0.083;MQ=56.92;MQRankSum=-15.88;QD=6.58;ReadPosRankSum=0.619;SOR=0.648	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2113.83	326	chr19	54855628	.	A	G	2113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.5;DP=535;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.91;MQRankSum=-16.27;QD=6.48;ReadPosRankSum=-0.438;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	0	1	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	416.79	303	chr19	54855666	.	CAG	C	416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.043;DP=528;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=58.65;MQRankSum=-17.35;QD=1.38;ReadPosRankSum=-5.54;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	0	1	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	416.79	303	chr19	54855669	.	G	GCA	416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.409;DP=515;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=59.03;MQRankSum=-17.35;QD=1.38;ReadPosRankSum=-5.729;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	5	0	1	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	.	.	.	.	.	.	.	.	0.08333	619.83	285	chr19	54859084	.	C	T	619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.166;DP=467;ExcessHet=0;FS=1.478;MLEAC=1;MLEAF=0.083;MQ=43.03;MQRankSum=-5.612;QD=2.17;ReadPosRankSum=-1.05;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	583.79	296	chr19	54859096	.	TGG	T	583.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.845;DP=478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.74;MQRankSum=-4.584;QD=1.97;ReadPosRankSum=1.5;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	1	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	541.79	295	chr19	54859099	.	C	CAT	541.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.691;DP=475;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.083;MQ=41.52;MQRankSum=-4.565;QD=1.84;ReadPosRankSum=1.72;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	1	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	.	.	.	.	.	.	.	.	0.08333	571.83	271	chr19	54859126	.	T	A	571.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.159;DP=455;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.35;MQRankSum=-3.105;QD=2.11;ReadPosRankSum=4.89;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2564.83	236	chr19	54865810	.	T	C	2564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.261;DP=406;ExcessHet=0;FS=3.199;MLEAC=1;MLEAF=0.083;MQ=57.52;MQRankSum=-10.74;QD=10.87;ReadPosRankSum=1.2;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2447.83	230	chr19	54865825	.	G	A	2447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.116;DP=400;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=57.68;MQRankSum=-10.44;QD=10.64;ReadPosRankSum=1.05;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2345.83	219	chr19	54865847	.	T	C	2345.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.88;DP=389;ExcessHet=0;FS=3.302;MLEAC=1;MLEAF=0.083;MQ=57.5;MQRankSum=-10.44;QD=10.71;ReadPosRankSum=-0.537;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2237.83	210	chr19	54865852	.	T	A	2237.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.662;DP=380;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=57.44;MQRankSum=-10.2;QD=10.66;ReadPosRankSum=-0.559;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2204.83	206	chr19	54865864	.	C	A	2204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.75;DP=376;ExcessHet=0;FS=1.184;MLEAC=1;MLEAF=0.083;MQ=57.53;MQRankSum=-9.706;QD=10.7;ReadPosRankSum=-0.558;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1994.83	201	chr19	54865870	.	C	T	1994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=371;ExcessHet=0;FS=1.218;MLEAC=1;MLEAF=0.083;MQ=57.57;MQRankSum=-9.084;QD=9.92;ReadPosRankSum=-0.447;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1685.83	184	chr19	54865885	.	T	C	1685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.41;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.42;MQRankSum=-8.925;QD=9.16;ReadPosRankSum=0.018;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1697.83	179	chr19	54865888	.	C	T	1697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=349;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.083;MQ=57.24;MQRankSum=-8.973;QD=9.49;ReadPosRankSum=-0.793;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1670.83	173	chr19	54865893	.	G	C	1670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=343;ExcessHet=0;FS=1.334;MLEAC=1;MLEAF=0.083;MQ=57.2;MQRankSum=-8.719;QD=9.66;ReadPosRankSum=-0.63;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1168:.	5	0	1	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1130.83	234	chr19	54866420	.	C	G	1130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.694;DP=419;ExcessHet=0;FS=34.655;MLEAC=1;MLEAF=0.083;MQ=57.9;MQRankSum=-15.17;QD=4.83;ReadPosRankSum=0.367;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1449:.	5	0	1	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	381.83	378	chr19	54866533	.	A	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.525;DP=571;ExcessHet=0;FS=81.768;MLEAC=1;MLEAF=0.083;MQ=57.97;MQRankSum=-19.36;QD=1.01;ReadPosRankSum=0.875;SOR=3.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1449	5	0	1	0
chr19	54990193	54990193	G	A	splicing	NLRP2	NM_001174081:exon9:c.2537+1G>A;NM_001174082:exon8:c.2471+1G>A;NM_017852:exon9:c.2537+1G>A;NM_001348003:exon9:c.2528+1G>A;NM_001174083:exon10:c.2468+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs769940861	8.894e-06	9.577e-06	8.168e-06	9.626e-06	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.094e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.134303	0.30801	T	-0.254847	0.49337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.891457	0.56626	23.8	0.96109324527441065	0.28739	0.72182	0.35340	D	AEFDBI	.	.	.	0.63929780784114	0.75679	6.348652	0.333780111121564	0.57535	3.91968	0.00146828044827121	0.08559	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.092715	0.02821	0	0.21377	0.31099	2.55	2.55	0.29757	2.685000	0.46626	.	.	0.662000	0.56354	1.000000	0.71638	0.529000	0.25352	0.047000	0.14932	0.0:0.0:1.0:0.0	8.744	0.33738	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	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	1749.83	39	chr19	54990193	.	G	A	1749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=364;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.366;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	5	0	1	0
chr19	55045166	55045166	C	T	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.G904A:p.D302N,RDH13:NM_138412:exon8:c.G691A:p.D231N	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0141393244021	.	0.000998403	0.0004	0	0	0	0	0	0	0.0028	0.0003363	52	154602	rs368796928	0.0002	0.0002	8.578e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	0	0	0	0	0	0	8.993e-07	0.0002	0.0028	0.0001	0.0001	8.991e-05	0.0002	0.0043	9.14e-05	7.697e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.313	0.16958	T	0.204	0.28300	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.255	0.31814	L	-0.25	0.67011	T	-4.48	0.77965	D	0.329	0.46555	-0.4321	0.70998	T	0.370	0.72917	T	10	0.0060578883	0.00136	T	0.014139	0.34055	T	0.309	0.63055	0.378	0.39319	0.653944405081	0.65105	0.6610673686442303	0.66043	0.0872875167598	0.09842	0.651684105396	0.60224	T	0.155015	0.49655	T	-0.465751	0.00904	T	-0.445786	0.28162	T	0.304182022809982	0.25176	T	.	.	.	0.35753354	0.57648	0.25339222	0.50986	0.35753354	0.57648	0.25339222	0.50986	-5.713	0.45256	T	.	.	0.107	0.20117	B	.;.;.	.;.;.	3.586399	0.50588	23.0	0.99897881857467019	0.97048	0.93751	0.59087	D	AEFDBCI	0.461462	0.51121	N	0.476920930292797	0.65745	4.861255	0.469616354476287	0.65986	4.893648	0.999999973303373	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.61	4.61	0.56724	1.976000	0.40202	.	.	0.545000	0.25583	0.945000	0.32849	1.000000	0.68203	0.603000	0.31463	0.0:1.0:0.0:0.0	15.323	0.73848	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	673.83	33	chr19	55045166	.	C	T	673.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.971;DP=227;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.538;SOR=0.504	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1370	5	0	1	0
chr19	55095588	55095588	G	C	exonic	PPP1R12C	.	nonsynonymous SNV	PPP1R12C:NM_001271618:exon10:c.C1240G:p.P414A,PPP1R12C:NM_017607:exon10:c.C1243G:p.P415A	.	.	.	.	.	.	.	.	.	.	.	2321411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0913787416683	7.7e-05	.	9.192e-05	0	0	0	0	0.0002	0	0	5.17e-05	8	154602	rs201640646	3.668e-05	3.831e-05	3.636e-05	3.7e-05	0.0002	2.848e-05	2.579e-05	3.31e-05	2.966e-05	0	0	0	0	0	0.0002	4.295e-05	3.433e-05	2.534e-05	6.571e-05	6.567e-05	6.423e-05	6.727e-05	0.0002	3.517e-05	2.616e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.009	0.57480	D	0.003	0.76473	D	0.001	0.07471	B	0.005	0.11217	B	0.006769	0.31811	N	0.186893	0.528	0.31955	D	2.645	0.77386	M	-0.16	0.69158	T	-4.09	0.84315	D	0.145	0.14622	-0.5216	0.67855	T	0.235	0.60246	T	10	0.1487473	0.28163	T	0.091379	0.75695	D	0.099	0.28413	.	.	0.7921055478	0.79017	0.22126124883507375	0.22042	0.430679336334	0.43297	0.415974915028	0.27282	T	0.292821	0.66554	T	-0.22274	0.17621	T	-0.366695	0.37276	T	0.179702758789062	0.19216	T	0.659134	0.26896	T	0.11248153	0.26573	0.14191894	0.33780	0.11248153	0.26573	0.14191894	0.33779	-6.827	0.52760	T	.	.	0.061	0.01271	B	.;.	.;.	2.276813	0.29111	18.02	0.97407017934554652	0.33805	0.22813	0.21871	N	AEFDGBCI	0.049891	0.08665	N	-0.286369179440856	0.29674	1.647687	-0.256333824025413	0.29553	1.65668	0.991413477810812	0.32481	0.67177	0.52595	0	0.723109	0.82256	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	3.95	1.48	0.21900	1.224000	0.32142	2.021000	0.30209	0.665000	0.62972	0.738000	0.29006	0.999000	0.35428	0.935000	0.47363	0.0:0.4309:0.5691:0.0	9.401	0.37596	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	406.83	26	chr19	55095588	.	G	C	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.289;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.35;SOR=0.549	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,683	5	0	1	0
chr19	55231820	55231820	C	T	exonic	PPP6R1	.	nonsynonymous SNV	PPP6R1:NM_014931:exon19:c.G2288A:p.R763H	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00340228199509	0.0003	.	0.0004	0	0	0	0	0.0005	0	0.0020	0.0001811	28	154602	rs61735026	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	3.745e-05	0.0018	0.0002	0	0.0009	6.52e-05	0.0003	0.0013	0.0001	0.0001	0.0001	0.0001	0.0012	8.176e-05	6.731e-05	0.0005	0.0004	0	0	0	0.0020	0	0	0.0032	2.941e-05	0.0014	0.0012	0.375	0.11370	T	0.132	0.34477	T	0.0	0.02946	B	0.0	0.01387	B	0.000195	0.00507	N	3.509740	1	0.08975	N	-1.04	0.01097	N	0.99	0.41750	T	-0.33	0.12472	N	0.108	0.11340	-1.0234	0.22606	T	0.042	0.18035	T	10	0.0046245456	0.00096	T	0.003402	0.07633	T	0.009	0.00846	.	.	0.102598925029	0.09809	0.1474556375075937	0.14667	0.0647928516065	0.07235	0.378384649754	0.22027	T	0.006338	0.05774	T	-0.706123	0.00034	T	-0.827606	0.01305	T	0.018925175408884	0.00602	T	0.507449	0.16094	T	0.00942339	0.00002	0.018096374	0.00046	0.00942339	0.00002	0.018096374	0.00046	-4.03	0.24251	T	.	.	0.066	0.02200	B	.;.	.;.	-0.563038	0.01676	0.120	0.87641240266480358	0.17374	0.03004	0.07870	N	AEFDGBCI	0.033518	0.03996	N	-1.98989122116413	0.00222	0.0095321	-2.08092177248893	0.00205	0.009027603	0.999999370510179	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.91	-7.83	0.01065	-2.645000	0.00934	-2.588000	0.03576	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0896:0.2774:0.4145:0.2184	4.094	0.09457	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004049	0.005155	0.002732	0.000000	0.000000	0.025862	0.003086	0.007576	0.08333	758.83	38	chr19	55231820	.	C	T	758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=236;ExcessHet=0;FS=5.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.53;SOR=1.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1457	5	0	1	0
chr19	55482466	55482466	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G1273A:p.E425K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0553853875588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941046659	6.918e-05	6.16e-05	6.909e-05	6.928e-05	8.27e-05	5.701e-05	5.316e-05	6.839e-05	6.301e-05	3.898e-05	0	0	0	0	0	8.27e-05	3.829e-05	0	3.969e-05	3.947e-05	6.463e-05	1.355e-05	5.906e-05	1.725e-05	1.136e-05	1.978e-05	1.128e-05	4.862e-05	0	0	0	0	0	0	5.906e-05	0	0	.	.	.	0.229	0.25210	T	.	.	.	.	.	.	0.007465	0.31378	U	0.129851	1	0.08975	N	0.55	0.14455	N	3.11	0.08194	T	.	.	.	0.32	0.36043	-0.9417	0.42346	T	0.013	0.05081	T	10	0.0839186	0.14010	T	0.055385	0.66214	D	0.035	0.08770	.	.	0.043077524339	0.03247	0.255330154629713	0.25447	.	.	0.941301345825	0.99504	D	0.001284	0.00766	T	-0.235847	0.15883	T	-0.576554	0.14854	T	0.088395856320858	0.11025	T	0.688631	0.29780	T	0.029287107	0.02398	0.07602174	0.16795	0.029287107	0.02398	0.07602174	0.16795	-5.519	0.42045	T	.	.	0.635	0.70329	P	.;.	.;.	2.203224	0.28101	17.69	0.89386621891578533	0.18753	0.11411	0.16616	N	AEFDBCI	0.041921	0.06437	N	-0.929251647655197	0.10163	0.4843265	-0.837747131907683	0.13582	0.705393	0.999582692326001	0.40607	0.660377	0.49826	0	0.694456	0.67091	0	0.535252	0.11790	0	0.528226	0.09195	0	.	.	4.12	3.08	0.34576	1.423000	0.34445	3.601000	0.39222	-0.331000	0.05774	0.971000	0.34370	0.999000	0.35428	0.020000	0.11549	0.1011:0.0:0.8989:0.0	10.266	0.42635	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	274.83	29	chr19	55482466	.	G	A	274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.083;DP=104;ExcessHet=0;FS=10.139;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.458;SOR=2.008	GT:AD:DP:GQ:PL	0/1:17,9:26:99:285,0,512	5	0	1	0
chr19	55486809	55486809	G	T	exonic	NAT14	.	nonsynonymous SNV	NAT14:NM_020378:exon3:c.G474T:p.M158I	.	397	1119	6	0	0	6	0.0026738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.000399361	0.0115	0	0	0	0	0.0052	0	0.0159	0.0002781	43	154602	rs530693711	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0029	0.0028	0.0001	0.0005	0	0	6.228e-05	0.0022	0.0005	0.0007	0.0033	0.0006	0.0006	0.0004	0.0007	0.0044	0.0005	0.0004	0.0029	0.0025	0.0001	0	0.0005	0	0.0002	0	0	0.0007	0.0009	0.0044	0.437	0.09346	T	0.527	0.10209	T	0.0	0.02946	B	0.0	0.01387	B	0.864213	0.08872	N	0.924705	1	0.08975	N	0	0.06538	N	.	.	.	-0.11	0.08653	N	0.171	0.18239	-1.0250	0.22083	T	0.033	0.14073	T	9	0.0059907734	0.00134	T	.	.	.	0.122	0.33800	0.388	0.40951	0.221734844693	0.21761	0.4025468233762649	0.40170	0.306447022474	0.32941	0.886716127396	0.94845	D	0.003464	0.02869	T	-0.538554	0.00342	T	-0.548477	0.17472	T	0.0153031973471753	0.00339	T	0.613939	0.23413	T	0.05128767	0.09397	0.050202314	0.07832	0.05128767	0.09396	0.050202314	0.07832	-4.61	0.32297	T	.	.	0.212	0.44095	B	.	.	1.824424	0.23182	15.92	0.92889096947834826	0.22440	0.38885	0.26089	N	AEFDGBCI	0.090176	0.18275	N	-0.92916579896595	0.10164	0.4844298	-0.882285098230132	0.12513	0.6441352	0.999994431754565	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.26897	0.05253	2	0.581474	0.35302	0	.	.	3.81	-2.89	0.05326	0.289000	0.18713	1.163000	0.24567	0.674000	0.70861	0.130000	0.23345	0.690000	0.26170	0.985000	0.61073	0.2218:0.1697:0.2635:0.345	0.328	0.00292	970	0.06235	GNAT 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	0.005348	0.000000	0.004360	0.011976	0.000000	0.000000	0.000000	0.007874	0.08333	600.83	37	chr19	55486809	.	G	T	600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.506;DP=162;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.782;SOR=0.352	GT:AD:DP:GQ:PL	0/0:23,0:23:66:0,66,784	5	0	1	0
chr19	55578091	55578091	G	A	exonic	ZNF579	.	nonsynonymous SNV	ZNF579:NM_152600:exon2:c.C1549T:p.P517S	.	.	.	.	.	.	.	.	.	.	.	3417100	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0768731517278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866326686	3.529e-06	6.84e-06	4.188e-06	2.855e-06	3.674e-06	1.03e-06	7.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.674e-06	1.703e-05	0	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.287e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.032	0.44694	D	0.161	0.31326	T	0.07	0.23866	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.35	0.05989	T	-0.94	0.25118	N	0.173	0.18512	-0.9819	0.34561	T	0.010	0.03856	T	9	0.10253191	0.18796	T	0.076873	0.72635	D	0.060	0.17295	0.369	0.37850	0.26169431596	0.25797	0.20145884555269813	0.20062	.	.	0.726791977882	0.71038	T	0.012185	0.10755	T	-0.251149	0.13957	T	-0.598535	0.12935	T	0.0397960839193641	0.03653	T	0.546045	0.18695	T	0.07521054	0.16930	0.08503554	0.19604	0.07521054	0.16929	0.08503554	0.19604	-4.813	0.34743	T	.	.	0.100	0.17103	B	.	.	2.927321	0.38882	20.8	0.99859892307926756	0.93820	0.59808	0.31018	D	AEFDBI	0.272617	0.38821	N	-0.418756370351471	0.24812	1.342383	-0.320007490470969	0.27453	1.523436	0.122021232150764	0.16904	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.17	3.17	0.35510	0.359000	0.19970	4.182000	0.42344	0.583000	0.30283	0.000000	0.06391	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7509:0.249	7.783	0.28241	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	483.83	39	chr19	55578091	.	G	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.088;SOR=0.567	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	0
chr19	55615134	55615145	GCGGCGGCGGCC	-	exonic	ZNF865	.	nonframeshift deletion	ZNF865:NM_001195605:exon2:c.1516_1527del:p.A509_A512del	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1177439940	0.0010	0.0008	0.0010	0.0009	0.0027	0.0009	0.0009	0.0017	0.0014	0.0002	0.0027	0.0015	0	0.0001	0.0008	0.0010	0.0011	0.0005	0.0008	0.0008	0.0008	0.0008	0.0028	0.0007	0.0006	0.0021	0.0019	0.0004	0	0.0028	0.0009	0.0004	0.0002	0	0.0008	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	206.83	33	chr19	55615133	.	GGCGGCGGCGGCC	G	206.83	.	AC=2;AF=0.2;AN=10;DP=82;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=23.65;SOR=1.022	GT:AD:DP:GQ:PL	./.:.:0:0:0,0,0	4	1	0	1
chr19	55642524	55642524	C	T	exonic	ZNF580	.	nonsynonymous SNV	ZNF580:NM_016202:exon1:c.C16T:p.P6S,ZNF580:NM_001163423:exon2:c.C16T:p.P6S,ZNF580:NM_207115:exon2:c.C16T:p.P6S	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0874656568737	0.0009	0.000599042	0.0010	0.0001	0.0011	0.0001	0	0.0015	0.0029	0	0.0009508	147	154602	rs138742547	0.0019	0.0018	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0016	0	0	8.737e-05	0.0014	0.0022	0.0021	6.939e-05	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0021	0.0019	0.0003	0	0.0028	0	0	9.411e-05	0.0102	0.0022	0.0024	0	1.0	0.00964	T	0.133	0.34716	T	0.347	0.33585	B	0.064	0.27215	B	.	.	.	.	1	0.81001	D	-0.205	0.04094	N	3.4	0.05642	T	-1.15	0.29525	N	0.139	0.13769	-0.8213	0.53852	T	0.007	0.02439	T	9	0.00846228	0.00192	T	0.087466	0.74942	D	0.082	0.23913	.	.	0.110392049598	0.10638	0.3881012974159783	0.38725	0.91802782315	0.71323	0.79685652256	0.81484	T	0.063626	0.32225	T	-0.49411	0.00617	T	-0.495762	0.22789	T	0.0601758486010034	0.07196	T	0.517648	0.21111	T	0.08634142	0.20066	0.12539308	0.30212	0.08634142	0.20066	0.12539308	0.30212	-4.505	0.30954	T	.	.	0.141	0.30868	B	.;.;.;.;.;.	.;.;.;.;.;.	3.346389	0.46131	22.2	0.94740649862818138	0.25431	0.79422	0.39352	D	AEFDBCI	0.255998	0.37501	N	-0.400266728188828	0.25459	1.382234	-0.212800369087366	0.31074	1.755339	0.999999950325102	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	3.86	3.86	0.43689	5.516000	0.66771	4.107000	0.41897	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	11.482	0.49581	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.004076	0.002941	0.000000	0.008621	0.003067	0.000000	0.08333	941.83	42	chr19	55642524	.	C	T	941.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.437;DP=239;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=0.849;SOR=0.973	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1174	5	0	1	0
chr19	55807862	55807862	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon5:c.G1697A:p.R566H,NLRP11:NM_001385453:exon6:c.G1994A:p.R665H,NLRP11:NM_145007:exon6:c.G1994A:p.R665H	.	.	.	.	.	.	.	.	.	.	.	2192900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0148484704185	.	.	3.318e-05	0	0	0	0	6.021e-05	0	0	3.23e-05	5	154602	rs561424521	2.403e-05	2.668e-05	2.187e-05	2.621e-05	0.0002	1.745e-05	1.544e-05	1.919e-05	1.666e-05	0	0	0	0	0	0.0002	2.706e-05	4.984e-05	1.164e-05	6.573e-06	6.568e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.237	0.26631	T	0.573	0.38659	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.54	0.54911	T	.	.	.	0.121	0.11626	-1.0689	0.09657	T	0.058	0.24204	T	9	0.07215029	0.10731	T	0.014848	0.35231	T	.	.	.	.	0.427596317008	0.42374	0.11380348452891756	0.11308	.	.	0.222847506404	0.01481	T	0.031442	0.22043	T	-0.325628	0.06448	T	-0.575067	0.14988	T	0.043493963778019	0.04328	T	0.60284	0.23413	T	0.050962437	0.09288	0.041732367	0.04809	0.050962437	0.09287	0.041732367	0.04809	-2.951	0.09746	T	.	.	0.096	0.15520	B	.;.	.;.	0.898560	0.12724	9.244	0.91538138741745645	0.20814	0.00050	0.00389	N	AEFBI	0.018296	0.00544	N	-1.19020352704221	0.05147	0.2339763	-1.3213425864825	0.04155	0.1953833	8.6156853878049E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-1.7	0.07721	0.176000	0.16596	-0.458000	0.09056	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.538:0.0:0.462	6.171	0.19632	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	629.83	36	chr19	55807862	.	C	T	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.88;DP=220;ExcessHet=0;FS=1.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.122;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	5	0	1	0
chr19	56019390	56019390	A	G	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon5:c.A614G:p.E205G	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00466194869051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.019	0.59159	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.7	0.72785	T	-0.83	0.22727	N	0.075	0.16168	-1.0243	0.22311	T	0.123	0.42505	T	9	0.06860572	0.09727	T	0.004662	0.11566	T	0.076	0.22200	0.19	0.10039	0.391000631824	0.38715	0.15181998129177426	0.15103	0.0229902821463	0.02324	0.426259040833	0.28697	T	0.05004	0.28480	T	-0.180349	0.23683	T	-0.496836	0.22677	T	0.0429042183343644	0.04220	T	0.226677	0.04439	T	0.03454653	0.03897	0.045053624	0.05975	0.03454653	0.03897	0.045053624	0.05974	-7.237	0.55746	T	.	.	0.077	0.17700	B	.;.	.;.	0.907023	0.12814	9.327	0.91744163380248667	0.21043	0.04340	0.09903	N	AEFGCI	0.023023	0.01227	N	-1.27349627599826	0.03997	0.1796322	-1.28480534456619	0.04635	0.2190986	8.16693424027641E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.04	1.02	0.19102	0.178000	0.16634	0.315000	0.17124	-0.075000	0.16284	0.375000	0.25965	0.000000	0.08366	0.004000	0.06068	0.8136:0.0:0.1864:0.0	3.941	0.08824	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1193.83	33	chr19	56019390	.	A	G	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.408;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.36;MQRankSum=-1.863;QD=11.7;ReadPosRankSum=0.844;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	56027291	56027291	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1058A:p.R353Q	.	433	1069	20	0	0	20	0.00926784	.	.	.	728414	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.120	0.032987503803	0.0003	0.00119808	0.0014	0.0004	8.945e-05	0	0	0.0003	0.0011	0.0090	0.001216	188	154602	rs200105264	0.0007	0.0007	0.0005	0.0009	0.0076	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0001	0	2.519e-05	5.847e-05	0.0035	0.0002	0.0006	0.0076	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0001	0	0	0	0.0002	9.423e-05	0.0034	0.0003	0.0009	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.026	0.19406	B	0.013	0.16460	B	0.363135	0.13640	N	0.561653	1	0.08975	N	-1.765	0.00315	N	-1.49	0.81235	T	2.58	0.00215	N	0.088	0.06587	-0.8968	0.48312	T	0.103	0.37869	T	10	0.01415658	0.00298	T	0.032988	0.54662	D	0.120	0.33359	.	.	0.346315397577	0.34243	0.03571177643507743	0.03518	0.0230952022024	0.02342	0.226226270199	0.01700	T	0.047114	0.27625	T	-0.551972	0.00284	T	-0.56066	0.16315	T	0.0146261555987757	0.00301	T	0.687031	0.29593	T	0.023283573	0.01056	0.031968832	0.01862	0.023283573	0.01055	0.031968832	0.01862	-2.303	0.04571	T	.	.	0.062	0.01367	B	.;.	.;.	-0.059584	0.03888	0.850	0.29724645780104714	0.01591	0.00238	0.01325	N	AEFDBI	0.017234	0.00439	N	-1.58232079265303	0.01355	0.05905252	-1.49868595026149	0.02355	0.1082053	9.58895197955829E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.35	1.1	0.19578	0.080000	0.14657	-0.241000	0.10591	-0.162000	0.11565	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.7315:0.0:0.2685:0.0	4.951	0.13361	969	0.06854	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	2418.83	36	chr19	56027291	.	G	A	2418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.604;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.144;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1244	5	0	1	0
chr19	56208993	56208993	G	C	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1284C:p.K428N	.	415	1077	29	1	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00439297	0.0075	0.0012	0.0067	0	0.0023	0.0087	0.0068	0.0131	0.0069469	1074	154602	rs184245764	0.0087	0.0087	0.0085	0.0089	0.0123	0.0086	0.0085	0.0108	0.0105	0.0018	0.0048	0.0054	2.519e-05	0.0032	0.0123	0.0095	0.0090	0.0114	0.0064	0.0064	0.0066	0.0062	0.0130	0.0060	0.0059	0.0105	0.0095	0.0016	0.0175	0.0053	0.0063	0	0.0023	0.0068	0.0100	0.0067	0.0130	0.09	0.31987	T	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-1.2	0.30555	N	0.065	0.05162	-0.9619	0.38819	T	0.018	0.07282	T	6	0.0041446984	0.00082	T	.	.	.	0.007	0.00512	0.32	0.29902	0.0666544352282	0.05500	0.05525170380058242	0.05466	0.00738871656898	0.00648	.	.	.	0.004527	0.03938	T	-0.791495	0.00009	T	-0.899316	0.00508	T	0.00919239028083951	0.00116	T	0.80082	0.44648	T	0.049057763	0.08650	0.042417493	0.05048	0.049057763	0.08649	0.042417493	0.05048	-2.274	0.04415	T	.	.	0.843	0.80310	P	.;.	.;.	0.223470	0.06054	2.498	0.98700064067545512	0.44895	0.00311	0.01644	N	AEFDGBI	0.023980	0.01414	N	-0.905582697636106	0.10710	0.5131586	-1.13804793676242	0.06984	0.3380995	0.00302296144270454	0.09875	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	1.38	-1.27	0.08863	-4.396000	0.00275	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1788:0.4776:0.3435:0.0	4.086	0.09422	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3433.83	132	chr19	56208993	.	G	C	3433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.21;DP=555;ExcessHet=0;FS=0.455;MLEAC=1;MLEAF=0.083;MQ=59.41;MQRankSum=1.53;QD=13.47;ReadPosRankSum=1.05;SOR=0.743	GT:AD:DP:GQ:PL	0/1:130,125:255:99:3444,0,3318	5	0	1	0
chr19	56209064	56209064	A	G	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.A1355G:p.K452R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000730287940354	.	.	9.686e-06	0	0	0	0	1.743e-05	0	0	3.84e-05	1	26028	rs762622132	1.79e-05	1.848e-05	1.919e-05	1.659e-05	3.493e-05	1.245e-05	1.058e-05	1.387e-05	1.158e-05	0	0	0	0	0	0	2.083e-05	0	3.493e-05	2.631e-05	2.627e-05	3.858e-05	1.346e-05	5.879e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.14	0.60854	T	-0.01	0.07155	N	0.044	0.01999	-1.0079	0.27572	T	0.061	0.25310	T	6	0.056021303	0.06214	T	7.3E-4	0.00491	T	0.012	0.01476	0.411	0.44723	0.293147016451	0.28931	0.032144555209771	0.03162	0.00728219743574	0.00638	.	.	.	0.002745	0.02136	T	-0.32893	0.06192	T	-0.710261	0.05281	T	0.033541401367569	0.02561	T	0.579042	0.20891	T	0.018621393	0.00384	0.027785646	0.00959	0.018621393	0.00384	0.027785646	0.00959	-3.568	0.17395	T	.	.	0.203	0.43366	B	.;.	.;.	-0.560103	0.01684	0.121	0.2232580579290287	0.00893	0.00529	0.02453	N	AEFDBI	0.032526	0.03691	N	-0.921707154283177	0.10336	0.4933944	-1.09975248278183	0.07706	0.3758797	5.76886403524621E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-0.319	0.12094	-2.063000	0.01476	.	.	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6462:0.0:0.3537:0.0	5.224	0.14706	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3851.83	264	chr19	56209064	.	A	G	3851.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.471;DP=479;ExcessHet=0;FS=0.449;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-1.743;QD=14.59;ReadPosRankSum=-0.174;SOR=0.72	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	56663996	56663996	G	C	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.C1203G:p.H401Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	3636103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00231271798795	7.7e-05	.	0.0002	0	8.705e-05	0	0	0.0001	0	0.0006	0.0001294	20	154602	rs375191518	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	5.976e-05	0.0002	0	0	0	0.0016	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.733e-05	0.0002	0.0001	2.416e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.52	0.02557	N	3.19	0.07353	T	0.64	0.02368	N	0.034	0.00942	-0.9614	0.38916	T	0.007	0.02478	T	9	0.016917288	0.00358	T	0.002313	0.04452	T	0.016	0.02506	.	.	0.0846915920261	0.08053	0.02034217274919947	0.01987	.	.	0.562567353249	0.47629	T	4.77E-4	0.00170	T	-0.632362	0.00092	T	-0.80339	0.01819	T	0.0193237223496392	0.00638	T	0.114489	0.00870	T	0.042501718	0.06457	0.059183054	0.11065	0.042501718	0.06457	0.059183054	0.11064	-1.284	0.01376	T	.	.	0.683	0.72246	P	.	.	-0.287668	0.02672	0.343	0.28274101898320259	0.01444	0.02820	0.07555	N	AEFDBI	0.096752	0.19526	N	-1.48748533413555	0.01938	0.08506503	-1.52266587405782	0.02170	0.09941633	1.47355955073233E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.15	-1.69	0.07747	-4.084000	0.00338	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.2321:0.1689:0.4275:0.1715	1.180	0.01731	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1026.83	34	chr19	56663996	.	G	C	1026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.41;DP=267;ExcessHet=0;FS=5.342;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.305;SOR=0.269	GT:AD:DP:GQ:PL	0/1:26,32:58:99:1037,0,664	5	0	1	0
chr19	56824633	56824633	G	A	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001146184:exon3:c.C23T:p.S8F,PEG3:NM_001369717:exon3:c.C23T:p.S8F,PEG3:NM_001369718:exon4:c.C23T:p.S8F,PEG3:NM_001369719:exon4:c.C23T:p.S8F,PEG3:NM_006210:exon4:c.C23T:p.S8F	.	427	1093	2	0	0	2	0.000914077	.	.	.	2374530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0113451974965	7.7e-05	.	0.0001	0.0001	0.0003	0	0	0.0002	0	0	0.0001035	16	154602	rs201826016	8.747e-05	9.098e-05	7.107e-05	0.0001	0.0005	7.472e-05	7.017e-05	0.0001	9.297e-05	6.035e-05	0.0002	0	0	0	0.0005	9.236e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.718e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.407	0.34981	B	0.088	0.29688	B	0.033311	0.24914	N	0.201748	.	.	.	0.55	0.14455	N	4.22	0.02640	T	-1.03	0.27052	N	0.37	0.41162	-0.9404	0.42552	T	0.005	0.01615	T	8	0.04451084	0.03416	T	0.011345	0.28865	T	0.019	0.03383	.	.	0.386395597597	0.38251	.	.	0.118995721495	0.13405	0.362435609102	0.19740	T	0.081093	0.36517	T	-0.47017	0.00848	T	-0.611422	0.11870	T	0.0473071542549839	0.05019	T	0.593841	0.24364	T	0.16912626	0.37411	0.0945295	0.22378	0.16912626	0.37410	0.0945295	0.22377	-4.88	0.35509	T	.	.	0.136	0.30608	B	.;.;.;.	.;.;.;.	2.383667	0.30602	18.49	0.99425251050884589	0.63984	0.05637	0.11548	N	AEFBCI	0.066113	0.12931	N	-0.877184247481233	0.11387	0.5492273	-0.900277179167164	0.12088	0.6197448	0.00440755709220544	0.10539	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	-0.132	0.12831	0.486000	0.22048	.	.	-0.176000	0.10722	0.000000	0.06391	0.937000	0.28687	0.925000	0.46118	0.184:0.1578:0.4958:0.1625	1.940	0.03142	975	0.05339	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001554	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	377.83	34	chr19	56824633	.	G	A	377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=1.14;SOR=0.869	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr19	57130494	57130494	C	T	exonic	USP29	.	stopgain	USP29:NM_020903:exon4:c.C1819T:p.Q607X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355509	0.86904	D	0.272887	0.86733	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.940136	0.94128	33	0.99004909371795924	0.50231	0.01424	0.04800	N	AEFBI	0.024033	0.01424	N	0.203001445343485	0.51343	3.316421	-0.192509463585646	0.31810	1.803779	2.50802172843305E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.53	2.53	0.29594	0.783000	0.26463	.	.	0.469000	0.21855	0.004000	0.16614	0.000000	0.08366	0.295000	0.24381	0.0:1.0:0.0:0.0	8.702	0.33491	952	0.10565	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	.	.	.	.	.	.	.	.	0.08333	1343.83	91	chr19	57130494	.	C	T	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.444;DP=447;ExcessHet=0;FS=3.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.161;SOR=0.392	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1354,0,1217	5	0	1	0
chr19	57135100	57135100	G	A	exonic	ZIM3	.	nonsynonymous SNV	ZIM3:NM_052882:exon5:c.C1237T:p.H413Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.00242135960057	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437855488	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.796025	0.29170	N	3.565	0.93411	H	-0.27	0.67367	T	-5.98	0.89334	D	0.406	0.44666	-0.1115	0.79833	T	0.552	0.83611	D	9	0.8127805	0.80546	D	0.002421	0.04757	T	0.265	0.57870	0.759	0.88811	0.918155117722	0.91733	0.029286707511738497	0.02877	0.342830291506	0.36211	0.640543341637	0.58641	T	0.357293	0.72402	T	-0.121938	0.32807	T	-0.231404	0.51636	T	0.95606130361557	0.64663	D	0.911709	0.68653	D	0.6098852	0.73222	0.6839315	0.81419	0.6098852	0.73223	0.6839315	0.81420	-11.632	0.83012	D	.	.	0.965	0.88748	P	.	.	2.828245	0.37279	20.5	0.98398749596243651	0.41042	0.94692	0.62003	D	AEFDBI	0.504458	0.53602	D	0.344521842540384	0.58449	4.017408	0.0855036553727421	0.43816	2.675789	0.534931449931359	0.21205	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.71	2.71	0.31092	7.984000	0.87764	.	.	0.356000	0.20028	1.000000	0.71638	0.717000	0.26328	0.032000	0.13371	0.0:0.0:1.0:0.0	11.162	0.47746	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	607.83	43	chr19	57135100	.	G	A	607.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.014;DP=264;ExcessHet=0;FS=0.861;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=0.868;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr19	57138584	57138584	G	T	exonic	ZIM3	.	nonsynonymous SNV	ZIM3:NM_052882:exon3:c.C30A:p.F10L	.	428	1093	1	0	0	1	0.000457247	.	.	.	3625105	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0026116271405	.	.	7.421e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs763683082	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0004	1.674e-05	1.477e-05	0.0003	0.0002	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0004	6.573e-06	1.314e-05	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.004	0.74150	D	0.183	0.29179	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	2.25	0.63811	M	3.22	0.07024	T	-5.19	0.83625	D	0.323	0.36359	-1.0460	0.15534	T	0.024	0.10374	T	9	0.35850558	0.52541	T	0.002612	0.05292	T	0.195	0.47612	0.851	0.95260	0.115124310173	0.11017	0.40125237367878286	0.40040	0.313891519587	0.33679	0.415452092886	0.27210	T	0.08073	0.36432	T	-0.432232	0.01437	T	-0.536681	0.18623	T	0.204518155518604	0.20663	T	0.710329	0.32115	T	0.27668282	0.50729	0.34557405	0.60238	0.27668282	0.50729	0.34557405	0.60237	-6.592	0.50992	T	.	.	0.977	0.90519	P	.	.	1.649510	0.21048	15.03	0.9469978013560163	0.25350	0.05716	0.11639	N	AEFDBI	0.035645	0.04624	N	-1.2274328614488	0.04605	0.208218	-1.40331129651698	0.03218	0.1496943	0.00344427335121432	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.87	-5.74	0.02197	-1.094000	0.03470	.	.	-0.563000	0.04815	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.6033:0.1372:0.2595:0.0	6.471	0.21205	964	0.07719	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	583.83	43	chr19	57138584	.	G	T	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.108;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=-0.341;SOR=0.73	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1162	5	0	1	0
chr19	57253748	57253748	C	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.C530A:p.T177N,ZNF805:NM_001023563:exon4:c.C929A:p.T310N	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00523649831315	.	0.000599042	0.0006	0	0.0002	0	0	1.499e-05	0	0.0041	0.0004916	76	154602	rs540712846	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	0	2.236e-05	0	0	0	0	1.799e-06	0.0003	0.0036	4.604e-05	4.595e-05	5.146e-05	4.037e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.166	0.26740	T	0.035	0.52389	D	0.014	0.16867	B	0.06	0.26717	B	0.005488	0.32753	N	0.142165	0.716316	0.29965	N	2.16	0.60381	M	1.76	0.25996	T	-3.65	0.69950	D	0.271	0.31140	-0.9925	0.31959	T	0.072	0.29130	T	10	0.010415167	0.00232	T	0.005236	0.13341	T	0.078	0.22779	0.442	0.49811	0.20808081866	0.20439	0.037296987754217775	0.03676	0.359677779946	0.37662	0.762696504593	0.76331	T	0.036093	0.23970	T	-0.506653	0.00524	T	-0.500693	0.22275	T	0.118895095497651	0.14322	T	0.625537	0.24174	T	0.32212207	0.54818	0.32034564	0.57990	0.32212207	0.54818	0.32034564	0.57989	-7.409	0.59320	T	.	.	0.440	0.66665	A	.;.	.;.	3.499144	0.48948	22.7	0.97577590869091224	0.34714	0.89764	0.50441	D	AEFGBCI	0.206373	0.33264	N	-0.123744531684752	0.36359	2.100661	-0.0679629999370886	0.36724	2.140814	0.0425430427698718	0.14531	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.78	2.72	0.31179	1.267000	0.32653	.	.	0.599000	0.40250	0.004000	0.16614	0.538000	0.25400	0.999000	0.91618	0.174:0.657:0.1689:0.0	8.425	0.31886	940	0.13648	.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2147.83	99	chr19	57253748	.	C	A	2147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.662;DP=410;ExcessHet=0;FS=5.96;MLEAC=1;MLEAF=0.083;MQ=57.55;MQRankSum=0.329;QD=14.22;ReadPosRankSum=0.994;SOR=0.423	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	5	0	1	0
chr19	57506990	57506990	G	T	exonic	ZNF773	.	stopgain	ZNF773:NM_001304334:exon4:c.G892T:p.G298X,ZNF773:NM_198542:exon4:c.G895T:p.G299X	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.042	0.02088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	5.655632	0.92841	33	0.98773146333141637	0.46002	0.68074	0.33666	D	AEFGBI	0.106343	0.21221	N	0.355688288539546	0.59040	4.080353	0.00423383478564812	0.39912	2.373644	0.999456747058515	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.24	1.24	0.20416	1.402000	0.34209	.	.	0.361000	0.20101	0.060000	0.21767	0.031000	0.21272	0.949000	0.49496	0.0:0.0:1.0:0.0	10.035	0.41297	982	0.03397	.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1229.83	87	chr19	57506990	.	G	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.336;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.63;MQRankSum=0.534;QD=11.6;ReadPosRankSum=0.655;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1422	5	0	1	0
chr19	57701723	57701723	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G1226A:p.G409E	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0202073957365	7.7e-05	.	0.0004	0	8.64e-05	0	0.0002	0.0002	0.0011	0.0018	0.0002781	43	154602	rs200045380	0.0003	0.0003	0.0002	0.0003	0.0017	0.0003	0.0002	0.0014	0.0014	5.974e-05	4.472e-05	3.826e-05	0	0.0002	0.0014	0.0002	0.0001	0.0017	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	2.405e-05	0	6.533e-05	0.0003	0	0	0.0034	0.0003	0.0005	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.740766	0.29737	N	1.975	0.53506	M	4.74	0.01604	T	-7.42	0.94814	D	0.353	0.39457	-1.1466	0.01130	T	0.021	0.08686	T	9	0.05032745	0.04748	T	0.020207	0.42757	T	0.085	0.24743	.	.	0.467501455318	0.46379	0.05458934458496622	0.05400	0.561225617221	0.52626	0.472633779049	0.35043	T	0.051971	0.29028	T	-0.422674	0.01645	T	-0.386702	0.34939	T	0.268547485065674	0.23685	T	.	.	.	0.6805128	0.76997	0.6098999	0.77309	0.6805128	0.76998	0.6098999	0.77310	-9.169	0.68778	D	.	.	0.885	0.81789	P	.	.	2.737218	0.35844	20.0	0.99684453000077045	0.79507	0.73512	0.35958	D	AEFDBHCI	0.323209	0.42547	N	0.375228211808428	0.60081	4.193425	0.240122464517026	0.52091	3.386222	0.100950631539283	0.16366	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.99	2.99	0.33673	1.546000	0.35787	.	.	0.444000	0.21144	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	12.174	0.53482	976	0.04745	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	1502.83	33	chr19	57701723	.	C	T	1502.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.547;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.796;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chr19	57874346	57874346	T	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.A1044C:p.E348D	.	428	1091	2	0	1	3	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000842017374802	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1170651881	1.178e-05	1.71e-05	8.265e-06	1.535e-05	0.0002	7.18e-06	5.87e-06	5.81e-06	4.59e-06	0	2.39e-05	0	2.569e-05	1.907e-05	0.0002	1.089e-05	0	1.19e-05	6.585e-05	0.0001	6.438e-05	6.74e-05	0.0002	3.524e-05	2.622e-05	3.254e-05	1.918e-05	9.671e-05	0	6.558e-05	0	0.0002	0.0002	0	2.943e-05	0	0	0.046	0.40573	D	0.003	0.76473	D	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999954	0.19072	N	0.99	0.25021	L	2.21	0.18414	T	0.26	0.04380	N	0.091	0.06990	-0.9971	0.30728	T	0.023	0.09923	T	9	0.053892136	0.05653	T	8.42E-4	0.00713	T	0.019	0.03383	0.479	0.55823	0.0482279557977	0.04254	0.004196378476831598	0.00393	0.0281334713111	0.02891	0.329949259758	0.14926	T	0.019974	0.15809	T	-0.383135	0.02976	T	-0.788123	0.02216	T	0.0824611163883359	0.10300	T	0.0463954	0.00329	T	0.056400675	0.11092	0.050185557	0.07825	0.056400675	0.11092	0.050185557	0.07825	-0.6	0.00648	T	.	.	0.322	0.54631	B	.	.	0.931693	0.13072	9.573	0.97490465022443085	0.34240	0.17345	0.19797	N	AEBHCI	0.135837	0.25630	N	-1.1335400649987	0.06055	0.2777207	-1.18340189432112	0.06186	0.2970036	1.52089203290548E-4	0.05650	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	2.01	0.932	0.18591	-1.172000	0.03220	.	.	-0.571000	0.04782	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.152:0.0:0.848	5.802	0.17682	982	0.03397	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	.	.	.	.	.	.	.	.	0.08333	1426.83	54	chr19	57874346	.	T	G	1426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.771;DP=440;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=51;MQRankSum=2.77;QD=6.93;ReadPosRankSum=4.05;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1595:.	5	0	1	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S,ZNF417:NM_152475:exon1:c.C29G:p.T10S	.	424	1091	7	0	0	7	0.00319781	.	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	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	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1992.83	33	chr19	57916383	.	G	C	1992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.238;DP=347;ExcessHet=0;FS=1.235;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=-1.915;QD=12.3;ReadPosRankSum=0.709;SOR=0.829	GT:AD:DP:GQ:PL	0/1:77,85:162:99:2003,0,1712	5	0	1	0
chr19	57958652	57958652	C	G	exonic	C19orf18	.	nonsynonymous SNV	C19orf18:NM_152474:exon6:c.G598C:p.E200Q	.	578	940	3	1	0	5	0.00265252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00229711704858	0.0009	0.000199681	0.0009	0.0001	0.0016	0	0	0.0014	0	0	0.0007309	113	154602	rs143356018	0.0008	0.0008	0.0007	0.0008	0.0015	0.0007	0.0007	0.0012	0.0011	0.0003	0.0015	0.0117	0	0	0.0014	0.0006	0.0015	7.104e-05	0.0008	0.0008	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0016	0.0136	0	0	0	0.0005	0.0019	0.0004	0.222	0.18823	T	0.325	0.18846	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	0.55	0.54728	T	-1.38	0.34198	N	0.078	0.05287	-1.0438	0.16177	T	0.067	0.27537	T	9	0.0063757002	0.00144	T	0.002297	0.04424	T	0.039	0.10176	.	.	0.301455362545	0.29754	0.00838653244608578	0.00802	0.0562568154488	0.06214	.	.	.	0.017044	0.13973	T	-0.614337	0.00119	T	-0.674243	0.07340	T	0.00491781356147187	0.00053	T	0.348165	0.07698	T	0.056120005	0.10997	0.04347778	0.05418	0.056120005	0.10997	0.04347778	0.05418	-4.58	0.31920	T	.	.	0.099	0.16538	B	.	.	0.421760	0.07922	4.631	0.44664777931840094	0.03450	0.02727	0.07393	N	AEFBI	0.046789	0.07808	N	-1.54863077211525	0.01543	0.06738442	-1.59421409326742	0.01690	0.07678332	3.26708803744836E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.98	-2.33	0.06340	0.175000	0.16577	.	.	-0.365000	0.05478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3703:0.5178:0.112	6.979	0.23872	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	321.83	20	chr19	57958652	.	C	G	321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.177;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.179;SOR=0.818	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,952	5	0	1	0
chr19	58063604	58063604	T	C	exonic	ZNF135	.	nonsynonymous SNV	ZNF135:NM_001164527:exon3:c.T355C:p.S119P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260832288	6.885e-06	7.524e-06	6.845e-06	6.925e-06	9.033e-06	3.48e-06	2.54e-06	4.57e-06	3.33e-06	0	0	0	0	0	0	9.033e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1118.83	104	chr19	58063604	.	T	C	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.86;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.905;SOR=0.724	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr19	58416940	58416940	C	T	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.C287T:p.P96L,ZNF584:NM_173548:exon4:c.C422T:p.P141L	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00759288629348	0.0007	0.000599042	0.0006	0	0.0003	0	0.0005	0.0007	0.0011	0.0015	0.0005757	89	154602	rs148875810	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0009	0.0014	0.0013	5.976e-05	0.0004	3.838e-05	0	0.0007	0.0009	0.0011	0.0004	0.0016	0.0006	0.0006	0.0007	0.0006	0.0015	0.0005	0.0005	0.0009	0.0008	9.62e-05	0	0.0007	0	0	0.0003	0	0.0011	0.0005	0.0015	0.711	0.04032	T	0.648	0.13953	T	0.421	0.35387	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	0.6	0.15550	N	2.53	0.14038	T	-1.32	0.32991	N	0.114	0.10198	-0.9691	0.37386	T	0.015	0.05994	T	9	0.0095312	0.00215	T	0.007593	0.20139	T	0.016	0.02506	.	.	0.256793551483	0.25290	0.17917508088348236	0.17836	0.311921731461	0.33496	0.224620044231	0.01594	T	0.016001	0.13313	T	-0.600775	0.00144	T	-0.671126	0.07537	T	0.0130709498835573	0.00229	T	0.377062	0.10126	T	0.018711928	0.00393	0.033423766	0.02234	0.018711928	0.00393	0.033423766	0.02234	-2.913	0.09274	T	.	.	0.067	0.03773	B	.;.	.;.	0.182798	0.05701	2.147	0.44301387942377513	0.03396	0.11999	0.16996	N	AEFBI	0.065209	0.12706	N	-1.00556566420363	0.08487	0.3981531	-1.09208963057301	0.07855	0.3837987	0.044461707650197	0.14613	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.22	-0.422	0.11714	-1.007000	0.03777	-3.577000	0.02683	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.330000	0.25202	0.427:0.3871:0.186:0.0	5.628	0.16776	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	968.83	98	chr19	58416940	.	C	T	968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=491;ExcessHet=0;FS=6.432;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.337;SOR=0.32	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	5	0	1	0
chr19	58417159	58417159	A	G	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.A506G:p.H169R,ZNF584:NM_173548:exon4:c.A641G:p.H214R	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0719061472969	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0.0011	0.0028	0.0004916	76	154602	rs149429599	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	5.974e-05	6.711e-05	0	0	5.616e-05	0.0019	0.0003	0.0004	0.0029	0.0003	0.0003	0.0004	0.0003	0.0046	0.0003	0.0002	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	0.0004	0.0005	0.0046	0.04	0.42199	D	0.04	0.53426	D	0.998	0.73220	D	0.958	0.70027	D	.	.	.	.	0.997455	0.22652	N	2.65	0.77586	M	0.07	0.61677	T	-5.43	0.85323	D	0.184	0.19995	-0.3572	0.73345	T	0.345	0.71004	T	9	0.011146396	0.00245	T	0.071906	0.71392	D	0.287	0.60574	.	.	0.776359005846	0.77430	0.6237655610279504	0.62309	0.396773779796	0.40786	0.33080291748	0.15056	T	0.166681	0.51301	T	-0.390031	0.02689	T	-0.337645	0.40612	T	0.164711508338464	0.18213	T	0.348865	0.07732	T	0.342006	0.56439	0.40971482	0.65253	0.342006	0.56439	0.40971482	0.65253	-8.125	0.61919	D	.	.	0.305	0.53347	B	.;.	.;.	2.948223	0.39226	20.9	0.99515071391132726	0.68858	0.52256	0.29088	D	AEFBI	.	.	.	0.243456063168605	0.53315	3.501026	0.0768390299467812	0.43386	2.641452	0.810832668586966	0.24352	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	3.78	0.42629	-0.010000	0.12681	0.091000	0.14516	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.7854:0.0:0.0:0.2146	6.555	0.21652	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1814.83	98	chr19	58417159	.	A	G	1814.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.485;DP=435;ExcessHet=0;FS=1.328;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.006;SOR=0.859	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1825,0,1737	5	0	1	0
chr20	1239405	1239405	C	T	exonic	RAD21L1	.	nonsynonymous SNV	RAD21L1:NM_001384357:exon3:c.C101T:p.A34V,RAD21L1:NM_001384358:exon4:c.C101T:p.A34V,RAD21L1:NM_001384356:exon5:c.C377T:p.A126V,RAD21L1:NM_001136566:exon7:c.C740T:p.A247V,RAD21L1:NM_001384355:exon7:c.C740T:p.A247V	.	425	1088	9	0	0	9	0.00411899	0.0016	0.112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00259585	0.0060	0	0.0025	0	0	0	0	0.0168	0.0009702	150	154602	rs555126409	0.0010	0.0010	0.0005	0.0015	0.0165	0.0009	0.0009	0.0157	0.0154	3.216e-05	0	0	2.812e-05	0	0.0009	1.318e-05	0.0009	0.0165	0.0005	0.0005	0.0002	0.0008	0.0143	0.0004	0.0003	0.0116	0.0106	0	0	6.541e-05	0	0	0	0	0	0	0.0143	0.389	0.14400	T	0.334	0.18340	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	-0.57	0.71307	T	-0.01	0.10480	N	0.022	0.00407	-1.0265	0.21593	T	0.098	0.36625	T	9	0.0035736263	0.00065	T	.	.	.	0.064	0.18567	0.445	0.50302	0.0297737177859	0.01360	0.06874147865601203	0.06812	.	.	0.255687117577	0.04390	T	0.023591	0.17979	T	-0.644883	0.00078	T	-0.685481	0.06654	T	0.0107316719915977	0.00151	T	0.517348	0.16736	T	0.028105818	0.02097	0.037762914	0.03500	0.028105818	0.02097	0.037762914	0.03500	-3.282	0.13506	T	.	.	0.063	0.01470	B	.;.	.;.	0.794094	0.11644	8.231	0.58200452319257912	0.05939	0.00167	0.00991	N	AEFGI	0.021704	0.00997	N	-1.44702618783785	0.02240	0.09871594	-1.38047728498082	0.03460	0.1614571	0.00118678738408575	0.08314	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	-0.0328	0.13231	0.676000	0.24927	0.219000	0.16052	-0.985000	0.01878	0.110000	0.22992	0.000000	0.08366	0.332000	0.25247	0.1504:0.3347:0.0:0.5149	4.217	0.09995	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002481	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.038462	0.08333	605.83	33	chr20	1239405	.	C	T	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.16;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=1.07;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	5	0	1	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R,TGM6:NM_198994:exon13:c.G1995C:p.R665S	Spinocerebellar ataxia 35, Autosomal dominant	4	1470	45	3	0	51	0.0170512	.	.	.	349763	not_specified|not_provided|Spinocerebellar_ataxia_type_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009073	0.000000	0.009511	0.002924	0.000000	0.000000	0.015244	0.019084	0.08333	1605.83	68	chr20	2432517	.	G	C	1605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.89;DP=351;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.108;SOR=0.477	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	5	0	1	0
chr20	2815563	2815563	C	T	exonic	C20orf141	.	nonsynonymous SNV	C20orf141:NM_080739:exon2:c.C286T:p.R96C,C20orf141:NM_001256538:exon3:c.C286T:p.R96C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00195472033125	.	.	7.545e-05	9.806e-05	0	0.0001	0.0002	9.162e-05	0	0	5.82e-05	9	154602	rs201845024	7.664e-05	7.661e-05	7.625e-05	7.703e-05	0.0003	6.492e-05	6.072e-05	6.094e-05	5.026e-05	0.0001	0	0	2.519e-05	0.0004	0.0003	6.746e-05	9.937e-05	3.479e-05	0.0001	0.0001	0.0002	2.69e-05	0.0001	6.512e-05	5.323e-05	6.805e-05	5.088e-05	7.237e-05	0	0	0	0	0.0004	0	0.0001	0	0	0.003	0.68238	D	0.015	0.61642	D	0.566	0.38464	P	0.172	0.35394	B	.	.	.	.	1	0.18878	N	0.345	0.11182	N	.	.	.	-2.93	0.61284	D	0.259	0.29313	-1.0893	0.05650	T	0.035	0.15247	T	8	0.055222303	0.06002	T	0.001955	0.03482	T	0.083	0.24192	0.277	0.23004	0.143124449307	0.13826	0.06171081472111466	0.06111	0.0564058659771	0.06233	.	.	.	0.087335	0.37919	T	-0.294173	0.09221	T	-0.478189	0.24638	T	0.298706293106079	0.24950	T	0.535646	0.17968	T	0.1628475	0.36388	0.14115542	0.33624	0.1628475	0.36388	0.14115542	0.33623	-5.377	0.40697	T	.	.	0.113	0.22609	B	.;.	.;.	3.191656	0.43364	21.7	0.99269752576083869	0.57525	0.02699	0.07344	N	AEFBI	0.078917	0.15932	N	-0.497874854556559	0.22149	1.180717	-0.523094765207833	0.21527	1.164942	0.999962598256242	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.43	3.4	0.38031	2.708000	0.46820	1.486000	0.26855	0.592000	0.32167	0.020000	0.19661	0.005000	0.19230	0.004000	0.06068	0.0:0.8639:0.0:0.1361	6.509	0.21411	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1663.04	38	chr20	2815563	.	C	T	1663.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.98;SOR=0.77	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1306	5	1	0	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T,VPS16:NM_022575:exon22:c.G2197A:p.A733T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3707.04	35	chr20	2865421	.	G	A	3707.04	.	AC=2;AF=0.167;AN=12;DP=284;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.4;SOR=1.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1084	5	1	0	0
chr20	3165904	3165904	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.G916A:p.G306S,LZTS3:NM_001365618:exon4:c.G916A:p.G306S,LZTS3:NM_001367609:exon4:c.G1006A:p.G336S	.	414	1054	49	5	0	59	0.0272266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0019	0.00519169	0.0067	0.0006	0.0018	0	0.0007	0.0033	0.0050	0.0314	0.0054333	840	154602	rs140477946	0.0045	0.0044	0.0036	0.0054	0.0297	0.0044	0.0043	0.0288	0.0284	0.0005	0.0014	0.0007	2.52e-05	0.0008	0.0127	0.0030	0.0054	0.0297	0.0025	0.0025	0.0021	0.0030	0.0261	0.0023	0.0022	0.0224	0.0210	0.0006	0	0.0014	0.0009	0	0.0004	0.0034	0.0029	0.0043	0.0261	0.52	0.07259	T	0.373	0.16425	T	0.689	0.44725	P	0.111	0.41090	B	0.004405	0.33773	N	0.288136	0.56611	0.31217	N	1.04	0.26193	L	0.89	0.45636	T	-0.13	0.08971	N	0.349	0.46368	-1.0386	0.17740	T	0.047	0.20156	T	10	0.004008025	0.00077	T	.	.	.	0.072	0.21020	.	.	0.171220215726	0.16700	0.5876594097079127	0.58695	0.678647379448	0.59893	0.486045897007	0.36891	T	0.006359	0.05794	T	-0.470693	0.00841	T	-0.427265	0.30247	T	0.00899952433187727	0.00113	T	0.858514	0.54939	D	0.0542011	0.10366	0.062347006	0.12184	0.0542011	0.10365	0.062347006	0.12183	-4.464	0.30414	T	.	.	0.072	0.10400	B	.;.;.;.	.;.;.;.	3.087624	0.41560	21.4	0.99841557339104448	0.92229	0.96822	0.71126	D	AEFDBI	0.413603	0.48321	N	-0.0781342619656111	0.38352	2.244978	0.0820102447336558	0.43643	2.661935	0.999937307179673	0.46732	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.505526	0.08623	0	.	.	5.44	5.44	0.79348	1.929000	0.39744	7.620000	0.62269	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.931000	0.46843	0.0:0.792:0.0:0.208	7.086	0.24438	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.005435	0.011696	0.000000	0.043103	0.003049	0.034091	0.1667	2868.04	34	chr20	3165904	.	C	T	2868.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.97;SOR=1.664	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,119,1800	5	1	0	0
chr20	3167845	3167845	T	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001367609:exon2:c.A26T:p.E9V	.	1257	263	1	1	0	3	0.00567108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs371609272	0.0013	0.0008	0.0013	0.0013	0.0228	0.0012	0.0012	0.0209	0.0201	0.0002	0	0.0144	0	0	0.0074	0.0007	0.0034	0.0228	0.0016	0.0016	0.0015	0.0017	0.0212	0.0014	0.0014	0.0178	0.0166	0.0001	0	0.0009	0.0138	0	0	0.0136	0.0010	0.0005	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.71	1	chr20	3167845	.	T	A	40.71	.	AC=2;AF=0.5;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=20.36;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	4
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	206.97	85	chr20	3803192	.	G	C	206.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.466;DP=611;ExcessHet=0.4139;FS=238.819;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.52;SOR=8.838	GT:AD:DP:GQ:PL	0/1:71,34:109:99:172,0,1172	1	0	2	3
chr20	4248603	4248603	G	T	exonic	ADRA1D	.	nonsynonymous SNV	ADRA1D:NM_000678:exon1:c.C355A:p.L119I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0140563690566	.	.	8.889e-06	0	0	0	0	1.61e-05	0	0	6.5e-06	1	154602	rs748759538	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.085	0.41074	T	0.975	0.58077	D	0.951	0.68939	D	0.000285	0.46274	D	0.099543	0.999707	0.48408	D	1.355	0.33814	L	2.21	0.18414	T	-1.56	0.37759	N	0.611	0.62781	-1.1441	0.01212	T	0.060	0.25018	T	10	0.5074414	0.61900	D	0.014056	0.33919	T	0.263	0.57612	0.598	0.72862	0.442363741745	0.43858	0.17024240298161625	0.16944	.	.	0.867655694485	0.92231	D	0.108129	0.42090	T	-0.107182	0.35234	T	-0.37625	0.36159	T	0.782768607139587	0.45224	D	0.962404	0.85901	D	0.17500645	0.38336	0.20115057	0.44081	0.17500645	0.38335	0.20115057	0.44080	-7.452	0.57272	T	.	.	0.304	0.53340	B	.	.	5.057342	0.84268	28.3	0.99446998949851484	0.65071	0.96908	0.71597	D	AEFDBHCI	0.811192	0.73424	D	0.434866949504421	0.63350	4.567057	0.399144132544188	0.61513	4.352338	0.999999999969476	0.74766	0.59774	0.34471	0	0.626922	0.53725	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.23	4.23	0.49319	6.828000	0.75100	11.658000	0.93956	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.624000	0.32000	0.1111:0.0:0.8889:0.0	7.919	0.29000	965	0.07246	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2246.83	160	chr20	4248603	.	G	T	2246.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.971;DP=361;ExcessHet=0;FS=1.242;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.312;SOR=0.815	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1344	5	0	1	0
chr20	5955179	5955179	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon5:c.A414G:p.I138M,MCM8:NM_001281521:exon5:c.A414G:p.I138M,MCM8:NM_001281522:exon5:c.A414G:p.I138M,MCM8:NM_032485:exon5:c.A414G:p.I138M,MCM8:NM_182802:exon5:c.A414G:p.I138M	.	443	1044	34	1	0	36	0.0169492	.	.	.	705575	not_provided|MCM8-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.0071885	0.0067	0.0007	0.0009	0.0002	0.0008	0.0045	0.0077	0.0291	0.0060866	941	154602	rs145133959	0.0039	0.0040	0.0031	0.0048	0.0278	0.0039	0.0038	0.0269	0.0265	0.0004	0.0013	0.0112	7.564e-05	0.0011	0.0146	0.0023	0.0051	0.0278	0.0032	0.0032	0.0030	0.0034	0.0248	0.0030	0.0029	0.0212	0.0199	0.0004	0.0022	0.0013	0.0127	0	0.0003	0.0274	0.0038	0.0052	0.0248	0.13	0.29288	T	0.231	0.26145	T	0.015	0.22573	B	0.06	0.26717	B	0.000057	0.53742	D	0.195954	0.993295	0.41895	D	2.14	0.59869	M	4.02	0.03178	T	-0.29	0.11728	N	0.276	0.31253	-0.9706	0.37073	T	0.013	0.04843	T	10	0.0059596	0.00134	T	.	.	.	0.057	0.16321	.	.	0.220303561663	0.21668	0.4778002110989415	0.47700	0.137519854837	0.15505	0.410954922438	0.26590	T	0.015874	0.13230	T	-0.574232	0.00209	T	-0.575991	0.14904	T	0.00718996981402981	0.00082	T	0.709529	0.32034	T	0.040518828	0.05797	0.040160395	0.04276	0.04858098	0.08489	0.040160395	0.04276	-5.801	0.44583	T	0.14989340546729085	0.17564	0.089	0.27039	B	.;.;.;.;.	.;.;.;.;.	1.016287	0.13959	10.52	0.68398722760211073	0.08646	0.75787	0.37125	D	AEFBI	0.093057	0.18834	N	-0.588157432002113	0.19303	1.009215	-0.518811133093924	0.21642	1.171767	0.989582320041094	0.31872	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.95	0.25130	0.503000	0.22318	1.452000	0.26614	-0.092000	0.16129	0.996000	0.39380	0.999000	0.35428	0.856000	0.40543	0.4529:0.3645:0.0654:0.1171	4.339	0.10538	622	0.65860	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018127	0.005051	0.014946	0.023392	0.000000	0.034483	0.015244	0.034091	0.1667	1735.04	34	chr20	5955179	.	A	G	1735.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.91;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	5	1	0	0
chr20	6042232	6042233	AT	-	exonic	LRRN4	.	frameshift deletion	LRRN4:NM_152611:exon5:c.1012_1013del:p.M338Vfs*73	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.795e-05	0	0	0.0006	0	3.135e-05	0	0.0002	7.12e-05	11	154602	rs766407477	7.06e-05	7.114e-05	6.273e-05	7.857e-05	0.0009	5.926e-05	5.534e-05	0.0004	0.0002	0	0	0	0.0002	0	0.0009	5.042e-05	8.298e-05	0.0003	4.596e-05	4.593e-05	2.569e-05	6.713e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.985e-05	0	0	0	0	0.0004	0	0	1.47e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	218.79	31	chr20	6042231	.	CAT	C	218.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.289;DP=111;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.303;SOR=0.693	GT:AD:DP:GQ:PL	0/0:15,0:15:39:0,39,585	5	0	1	0
chr20	6050863	6050863	T	C	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon3:c.A776G:p.D259G	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0714724545891	0.0017	0.00279553	0.0011	0.0055	0.0028	0	0	0.0007	0.0011	0.0001	0.0011643	180	154602	rs145098571	0.0009	0.0009	0.0009	0.0008	0.0066	0.0008	0.0008	0.0054	0.0051	0.0060	0.0031	0.0008	0	0	0.0066	0.0007	0.0020	0.0002	0.0022	0.0022	0.0021	0.0023	0.0049	0.0020	0.0019	0.0044	0.0041	0.0049	0	0.0039	0.0009	0	0	0.0204	0.0007	0.0081	0	0.056	0.38185	T	0.031	0.53788	D	0.268	0.31720	B	0.122	0.32387	B	0.029366	0.25464	N	0.372072	0.653074	0.32982	D	2.585	0.75554	M	-0.22	0.66474	T	-3.83	0.72120	D	0.595	0.61426	-0.2880	0.75320	T	0.343	0.70883	T	10	0.014007658	0.00295	T	0.071472	0.71278	D	0.405	0.71791	.	.	0.648932385495	0.64601	0.6471045725260206	0.64645	1.20322019372	0.80603	0.349931061268	0.17912	T	0.072722	0.34524	T	-0.211123	0.19221	T	-0.0737058	0.65360	T	0.0366379060911569	0.03093	T	0.734827	0.35112	T	0.4203781	0.62117	0.41935232	0.65931	0.4203781	0.62117	0.41935232	0.65931	-11.75	0.83612	D	.	.	0.477	0.63509	A	.	.	3.723076	0.53211	23.3	0.99769610005904108	0.85750	0.91288	0.53232	D	AEFDBI	0.377723	0.46139	N	0.158874407413799	0.49233	3.125979	0.200895601896791	0.49896	3.187597	0.986284508473253	0.31037	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.68	4.58	0.56077	2.506000	0.45093	4.976000	0.46431	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.1464:0.0:0.8536	8.644	0.33158	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.035354	0.021739	0.005848	0.000000	0.000000	0.000000	0.007576	0.1667	3414.04	33	chr20	6050863	.	T	C	3414.04	.	AC=2;AF=0.167;AN=12;DP=283;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.32;SOR=1.049	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	5	1	0	0
chr20	8881782	8881782	A	G	exonic	PLCB1	.	nonsynonymous SNV	PLCB1:NM_015192:exon32:c.A3584G:p.H1195R	Epileptic encephalopathy, early infantile, 12, Autosomal recessive	1	1499	21	1	0	23	0.00761337	.	.	.	267446	PLCB1-related_disorder|not_specified|not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.143	0.00724350499262	7.7e-05	0.00159744	0.0011	0	0.0055	0	0	0.0005	0.0011	0.0022	0.0009379	145	154602	rs186429469	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0024	0.0022	2.987e-05	0.0028	0.0005	0	0	0.0024	0.0002	0.0007	0.0022	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	9.62e-05	0	0.0005	0.0006	0	0	0.0034	0.0002	0	0.0029	0.06	0.37326	T	0.263	0.22962	T	0.932	0.51990	P	0.888	0.63021	P	0.008489	0.30815	N	0.371129	0.988115	0.81001	D	0	0.06538	N	2.17	0.19020	T	-1.16	0.29727	N	0.288	0.32591	-1.0598	0.11805	T	0.053	0.22307	T	10	0.0051480234	0.00112	T	0.007244	0.19198	T	0.143	0.38195	.	.	0.433430666707	0.42962	0.353458938204218	0.35259	0.380248947977	0.39388	0.508864760399	0.40064	T	0.253467	0.62399	T	-0.500714	0.00566	T	-0.496321	0.22730	T	0.108825234293612	0.13301	T	0.613539	0.23382	T	0.079749025	0.18237	0.10729163	0.25826	0.08900321	0.20782	0.11693834	0.28229	-2.535	0.06025	T	.	.	0.072	0.06803	B	.;.	.;.	3.038744	0.40735	21.2	0.98215268806454992	0.39246	0.98364	0.82028	D	AEFI	0.790212	0.71917	D	0.312091209183244	0.56768	3.842177	0.394338499886534	0.61214	4.318542	0.717888030655403	0.22896	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.98	4.86	0.62624	6.736000	0.74614	6.959000	0.57050	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8687:0.0:0.0:0.1313	12.216	0.53719	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	700.83	35	chr20	8881782	.	A	G	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.154;DP=285;ExcessHet=0;FS=8.34;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=0.395;SOR=1.159	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr20	9459654	9459654	A	G	exonic	PLCB4	.	nonsynonymous SNV	PLCB4:NM_001377135:exon33:c.A3056G:p.Q1019R,PLCB4:NM_001377136:exon33:c.A3056G:p.Q1019R,PLCB4:NM_000933:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001172646:exon34:c.A3092G:p.Q1031R,PLCB4:NM_001377134:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001377143:exon34:c.A3092G:p.Q1031R,PLCB4:NM_182797:exon34:c.A3056G:p.Q1019R,PLCB4:NM_001377142:exon35:c.A3092G:p.Q1031R	Auriculocondylar syndrome 2, Autosomal recessive, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0185004906008	7.7e-05	0.000399361	0.0004	0	8.775e-05	0	0	7.576e-05	0.0011	0.0024	0.0003363	52	154602	rs377707845	0.0002	0.0002	0.0001	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	5.989e-05	6.721e-05	0	0	0	0.0019	9.032e-05	0.0002	0.0021	9.192e-05	9.186e-05	8.994e-05	9.399e-05	0.0015	5.523e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.322	0.13610	T	0.34	0.18018	T	0.596	0.39217	P	0.098	0.38470	B	0.000034	0.55875	D	0.124032	0.99999	0.58761	D	1.67	0.42885	L	1.02	0.40749	T	-1.48	0.36189	N	0.624	0.65245	-1.0519	0.13872	T	0.098	0.36677	T	10	0.022329003	0.00555	T	0.018	0.40584	T	0.124	0.34239	.	.	0.608821576771	0.60568	0.2691799869522203	0.26830	0.262748586861	0.28834	0.802187681198	0.82296	T	0.286962	0.65976	T	-0.311092	0.07653	T	-0.225497	0.52207	T	0.0282982597639718	0.01732	T	0.893711	0.63166	D	0.12558568	0.29435	0.2203412	0.46806	0.12558568	0.29435	0.2203412	0.46805	-7.268	0.57165	T	0.29826195167310776	0.39545	0.118	0.31956	B	.;.;.;.;.	.;.;.;.;.	3.850551	0.55778	23.7	0.99153637235126058	0.53875	0.97516	0.75258	D	AEFDBI	0.817379	0.73888	D	0.102026477716955	0.46557	2.894257	0.262878622678562	0.53386	3.50779	0.999999957107158	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.61	5.61	0.85347	6.823000	0.75073	9.349000	0.80281	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.802	0.78236	760	0.50470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	355.83	33	chr20	9459654	.	A	G	355.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.31;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=1.08;SOR=0.675	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr20	10598725	10598725	C	T	exonic	SLX4IP	.	nonsynonymous SNV	SLX4IP:NM_001009608:exon5:c.C289T:p.R97C	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0003	0.00559105	0.0033	0	8.669e-05	0.0324	0.0020	0.0011	0.0110	0.0010	0.0029301	453	154602	rs78689061	0.0012	0.0012	0.0012	0.0012	0.0272	0.0012	0.0012	0.0259	0.0253	0	0.0002	7.652e-05	0.0272	0.0025	0.0003	0.0003	0.0018	0.0012	0.0013	0.0013	0.0012	0.0015	0.0268	0.0012	0.0011	0.0232	0.0218	9.626e-05	0	0.0003	0	0.0268	0.0009	0	0.0004	0.0019	0.0029	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.947	0.68407	D	0.000512	0.43753	D	0.146148	0.999846	0.49770	D	2.045	0.56016	M	1.79	0.25509	T	-5.35	0.84742	D	0.554	0.57946	-1.0093	0.27136	T	0.076	0.30645	T	10	0.010911256	0.00241	T	.	.	.	0.271	0.58633	.	.	0.54823119731	0.54479	0.4649111838509392	0.46410	0.498122856725	0.48292	0.222337335348	0.01449	T	0.179463	0.53046	T	-0.430761	0.01467	T	-0.365075	0.37464	T	0.0988294406230164	0.12228	T	0.861914	0.55630	D	0.3840672	0.59609	0.37305677	0.62501	0.3840672	0.59609	0.37305677	0.62501	-3.722	0.19643	T	.	.	0.129	0.27613	B	.	.	3.939900	0.57647	23.9	0.99929742529716725	0.99279	0.60456	0.31200	D	AEFDGBCIJ	0.274947	0.39002	N	0.555240076433633	0.70402	5.496223	0.543226341183601	0.70928	5.577812	0.999999999999923	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.616094	0.41390	0	0.466023	0.07079	0	.	.	5.31	5.31	0.75063	1.203000	0.31890	1.585000	0.27497	0.599000	0.40250	0.997000	0.40164	0.927000	0.28453	0.941000	0.48210	0.0:1.0:0.0:0.0	19.017	0.92876	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1160.83	104	chr20	10598725	.	C	T	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.363;DP=285;ExcessHet=0;FS=6.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.66;SOR=0.293	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1287	5	0	1	0
chr20	11923392	11923392	G	C	exonic	BTBD3	.	nonsynonymous SNV	BTBD3:NM_001282552:exon4:c.G842C:p.G281A,BTBD3:NM_001282554:exon4:c.G842C:p.G281A,BTBD3:NM_014962:exon4:c.G1295C:p.G432A,BTBD3:NM_001282550:exon5:c.G1112C:p.G371A,BTBD3:NM_001282551:exon5:c.G1112C:p.G371A,BTBD3:NM_181443:exon5:c.G1424C:p.G475A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.0725539401352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.53172	D	0.005	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-1.42	0.80730	T	-4.26	0.76740	D	0.705	0.70878	0.584	0.91692	D	0.739	0.91084	D	10	0.81238675	0.80509	D	0.072554	0.71561	D	0.673	0.87917	0.532	0.64002	0.954215541992	0.95373	0.2547248074967749	0.25386	1.39510571996	0.85073	0.79266166687	0.80847	T	0.263993	0.63572	T	0.277526	0.81104	D	0.16087	0.80860	D	0.991437375545502	0.81729	D	0.989968	0.96869	D	0.72450113	0.79413	0.76231015	0.85957	0.72450113	0.79414	0.76231015	0.85958	-9.769	0.74056	D	.	.	0.539	0.66295	A	.;.;.;.;.;.	.;.;.;.;.;.	5.014454	0.83297	28.0	0.99794509294599487	0.88017	0.97841	0.77530	D	AEFGBCI	0.945456	0.95379	D	1.05395129222265	0.97182	15.71386	1.02289973933423	0.99023	20.318	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	10.003000	0.99689	11.890000	0.99067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.529	0.95212	641	0.64016	.;.;PHR;.;PHR;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1948.83	35	chr20	11923392	.	G	C	1948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.79;DP=302;ExcessHet=0;FS=6.763;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.538;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	5	0	1	0
chr20	17943144	17943144	A	G	exonic	SNX5	.	nonsynonymous SNV	SNX5:NM_001282454:exon12:c.T815C:p.I272T,SNX5:NM_014426:exon12:c.T1130C:p.I377T,SNX5:NM_152227:exon13:c.T1130C:p.I377T	.	513	1005	4	0	0	4	0.0019861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0200137926208	.	.	4.946e-05	0	0	0	0	4.498e-05	0	0.0002	3.88e-05	6	154602	rs771957175	1.921e-05	1.984e-05	2.185e-05	1.654e-05	0.0012	1.332e-05	1.147e-05	0.0006	0.0004	0	0	0	0	0	0.0012	1.263e-05	6.64e-05	3.482e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0004	0.2	0.20381	T	0.362	0.16865	T	0.107	0.26081	B	0.069	0.27757	B	0.000001	0.84330	D	0.091445	0.999999	0.58761	D	2.085	0.57729	M	0.31	0.58613	T	-2.35	0.51968	N	0.605	0.62273	-0.9511	0.40782	T	0.154	0.48516	T	10	0.34560132	0.51531	T	0.020014	0.42512	T	0.217	0.51112	0.441	0.49648	0.683458661421	0.68076	0.3136272676177182	0.31275	0.180933347307	0.20352	0.586977005005	0.51069	T	0.167521	0.51418	T	-0.00639306	0.50770	T	-0.0443057	0.67410	D	0.155340721654081	0.17521	T	0.751425	0.37327	T	0.23597948	0.46442	0.3333776	0.59176	0.23597948	0.46442	0.3333776	0.59175	-6.91	0.53373	T	.	.	0.145	0.32005	B	.;.	.;.	4.179204	0.62902	24.5	0.98862331539031822	0.47493	0.98886	0.88171	D	AEFBCI	0.919108	0.88914	D	0.115003308989455	0.47163	2.945848	0.304663916559807	0.55813	3.744159	0.999999999995495	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.098000	0.93552	9.388000	0.80560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.889	0.79069	780	0.47616	Sorting nexin Vps5-like, C-terminal;Sorting nexin Vps5-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003247	0.000000	0.08333	1235.83	42	chr20	17943144	.	A	G	1235.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.676;DP=322;ExcessHet=0;FS=1.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.606;SOR=0.525	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1346	5	0	1	0
chr20	18394312	18394312	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon15:c.C1149A:p.H383Q,DZANK1:NM_001099407:exon16:c.C1650A:p.H550Q,DZANK1:NM_001351683:exon16:c.C1734A:p.H578Q,DZANK1:NM_001351684:exon16:c.C1707A:p.H569Q,DZANK1:NM_001367611:exon16:c.C1668A:p.H556Q,DZANK1:NM_001367612:exon16:c.C1683A:p.H561Q,DZANK1:NM_001367613:exon16:c.C1683A:p.H561Q,DZANK1:NM_001367614:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367617:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367618:exon16:c.C1725A:p.H575Q,DZANK1:NM_001367619:exon17:c.C1308A:p.H436Q	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0160700415076	.	.	0.0001	0	0	0	0	1.564e-05	0	0.0008	8.41e-05	13	154602	rs768913708	4.926e-05	4.925e-05	2.723e-05	7.152e-05	0.0006	3.993e-05	3.67e-05	0.0005	0.0004	0	0	0	0	0	0.0005	1.349e-05	4.97e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.21	0.19639	T	0.568	0.20164	T	0.05	0.22331	B	0.013	0.16460	B	.	.	.	.	0.558216	0.32190	D	1.585	0.39878	L	-0.01	0.62762	T	-2.08	0.47514	N	0.216	0.29197	-1.0057	0.28247	T	0.098	0.36677	T	9	0.11170712	0.20926	T	0.01607	0.37142	T	0.076	0.22200	0.373	0.38503	0.417843521124	0.41399	0.18203445716634029	0.18122	0.0415236237448	0.04460	0.349460303783	0.17842	T	0.004081	0.21583	T	-0.320501	0.06856	T	-0.34067	0.40269	T	0.06617671376611	0.08103	T	0.589341	0.21633	T	0.074896894	0.16839	0.0805428	0.18229	0.074896894	0.16838	0.0805428	0.18228	-3.125	0.11586	T	.	.	0.105	0.25364	B	.;.;.;.;.	.;.;.;.;.	0.892373	0.12662	9.183	0.84245206864291367	0.15180	0.65174	0.32649	D	AEFBI	0.141743	0.26399	N	-0.137632777848058	0.35763	2.058315	-0.170354562282074	0.32632	1.858541	0.0978600075038982	0.16291	0.651	0.46895	0	0.708844	0.79440	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.29	1.64	0.22949	0.590000	0.23655	1.957000	0.29917	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.008000	0.08271	0.2586:0.2091:0.5323:0.0	3.524	0.07311	671	0.60868	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1730.83	142	chr20	18394312	.	G	T	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.045;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.368;SOR=0.696	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr20	18472891	18472891	A	G	exonic	POLR3F	.	nonsynonymous SNV	POLR3F:NM_001282526:exon3:c.A107G:p.K36R,POLR3F:NM_006466:exon3:c.A230G:p.K77R	.	440	1080	2	0	0	2	0.000925069	.	.	.	1897554	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0073204052741	.	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs776454367	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0013	0.0010	0.0003	0.0002	0.0024	0	0	0.0022	6.057e-05	0.0003	0	0.0001	0.0001	0.0002	9.401e-05	0.0003	8.662e-05	7.254e-05	8.872e-05	5.283e-05	2.405e-05	0	0.0003	0.0014	0	0	0.0068	8.822e-05	0.0009	0	0.103	0.30097	T	0.358	0.17064	T	0.426	0.35504	B	0.21	0.37304	B	0.000000	0.84330	D	0.042828	1	0.81001	D	1.545	0.39105	L	.	.	.	-2.31	0.51319	N	0.606	0.62357	-0.8835	0.49480	T	0.180	0.52660	T	9	0.1310488	0.24941	T	0.00732	0.19415	T	0.173	0.43840	.	.	0.544037764837	0.54058	0.4643727639454928	0.46356	0.586708081011	0.54259	0.731309711933	0.71697	T	0.067437	0.33201	T	-0.0217955	0.48597	T	0.034045	0.72540	D	0.0682305159850144	0.08401	T	0.908709	0.67605	D	0.316567	0.54348	0.35166436	0.60757	0.316567	0.54348	0.35166436	0.60756	-3.747	0.20015	T	.	.	0.096	0.15251	B	.	.	4.277518	0.65129	24.8	0.99620687163175636	0.75413	0.99436	0.96005	D	AEBI	0.854353	0.77137	D	0.252264156714017	0.53750	3.542654	0.402353881758173	0.61713	4.375166	0.999998890081472	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.88	5.88	0.94564	8.582000	0.90577	11.134000	0.86880	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.302	0.82649	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	348.07	9	chr20	18472891	.	A	G	348.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.09;DP=126;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.565;SOR=0.631	GT:AD:DP:GQ:PL	0/1:9,11:20:99:235,0,231	4	0	2	0
chr20	20605250	20605250	C	T	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon15:c.G1963A:p.V655I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	.	0.0004	0.0101837	0.0096	0.0009	0.0958	0	0	0.0002	0.0045	0.0017	0.0088744	1372	154602	rs142419151	0.0028	0.0028	0.0032	0.0024	0.0811	0.0027	0.0027	0.0789	0.0780	0.0010	0.0811	0	5.042e-05	1.873e-05	0	7.555e-05	0.0025	0.0020	0.0044	0.0044	0.0042	0.0047	0.0391	0.0042	0.0041	0.0365	0.0355	0.0014	0	0.0391	0	0.0002	9.423e-05	0	0.0001	0.0043	0.0004	0.02	0.49613	D	0.022	0.57587	D	0.998	0.73220	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.66	0.77858	M	-3.85	0.95859	D	-0.39	0.13611	N	0.689	0.69474	0.207	0.86023	D	0.641	0.87442	D	10	0.0046809316	0.00098	T	.	.	.	0.582	0.83193	.	.	.	.	0.3620195778390234	0.36115	0.364196637899	0.38030	0.515447020531	0.40986	T	0.046296	0.27383	T	-0.15235	0.27944	T	0.0734686	0.75142	D	0.0514276189067211	0.05748	T	0.963304	0.86380	D	0.14902106	0.33993	0.12265614	0.29584	0.14902106	0.33993	0.12265614	0.29583	-8.242	0.62707	D	.	.	0.119	0.38924	B	.;.	.;.	5.192901	0.87098	29.1	0.99894319107785701	0.96742	0.93864	0.59412	D	AEFBCI	0.851844	0.76872	D	0.7047501733968	0.79945	7.186076	0.68050161549174	0.80900	7.402858	0.999999999548671	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	0.0:1.0:0.0:0.0	18.615	0.91254	460	0.78750	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	3611.06	36	chr20	20605250	.	C	T	3611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=445;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.016;SOR=0.692	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1611,0,1924	4	0	2	0
chr20	23086009	23086009	T	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.A184T:p.T62S	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	0.00299521	0.0029	0	0.0004	0.0003	0	0	0.0031	0.0199	0.0019793	306	154602	rs200399999	0.0011	0.0011	0.0005	0.0016	0.0173	0.0010	0.0010	0.0165	0.0162	0	0	0	2.522e-05	0	0.0004	1.35e-05	0.0010	0.0173	0.0006	0.0006	0.0002	0.0009	0.0174	0.0005	0.0004	0.0144	0.0133	0	0	0	0	0	0	0	1.47e-05	0	0.0174	0.124	0.27426	T	0.212	0.26549	T	0.568	0.38507	P	0.229	0.38155	B	0.029597	0.25432	N	0.335554	0.934171	0.37079	D	1.335	0.33326	L	2.28	0.17271	T	-3.11	0.63669	D	0.208	0.23125	-1.0517	0.13926	T	0.029	0.12673	T	10	0.009301722	0.00210	T	.	.	.	0.043	0.11576	0.512	0.61000	0.506068822696	0.50244	0.7513044268119508	0.75077	0.181927384092	0.20455	0.435798406601	0.30002	T	0.219036	0.58192	T	-0.612161	0.00123	T	-0.638477	0.09780	T	0.0559079456287644	0.06509	T	0.552145	0.19060	T	0.13302822	0.30956	0.14809416	0.35020	0.13302822	0.30955	0.14809416	0.35019	-6.504	0.50317	T	.	.	0.259	0.49343	B	.	.	3.685521	0.52486	23.2	0.99222911408788894	0.55963	0.66854	0.33224	D	AEFDGBCIJ	0.375655	0.46010	N	-0.0119406354971464	0.41315	2.469032	0.0837261468908496	0.43731	2.668804	0.999999985983009	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.88	3.43	0.38372	2.504000	0.45076	4.854000	0.45404	0.660000	0.55035	0.992000	0.37556	1.000000	0.68203	0.854000	0.40426	0.247:0.0:0.1432:0.6097	6.670	0.22254	892	0.26670	C-type lectin-like|C-type lectin-like|C-type lectin-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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.1667	2640.06	36	chr20	23086009	.	T	A	2640.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=325;ExcessHet=0.4139;FS=1.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.436;SOR=0.663	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1295,0,992	4	0	2	0
chr20	23493042	23493042	G	A	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.G316A:p.A106T,CST8:NM_005492:exon3:c.G316A:p.A106T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00272100613991	7.7e-05	.	0.0001	0	0	0	0	4.498e-05	0	0.0006	9.06e-05	14	154602	rs374838890	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.781e-05	0.0011	0.0008	0	0	3.827e-05	0	0	0.0019	6.396e-05	8.289e-05	0.0010	3.946e-05	3.941e-05	3.856e-05	4.042e-05	0.0002	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.265	0.16305	T	0.238	0.24621	T	0.022	0.18677	B	0.009	0.14300	B	0.286808	0.03868	N	1.515170	1	0.08975	N	1.5	0.37844	L	1.77	0.25841	T	-0.59	0.17624	N	0.128	0.12198	-1.0320	0.19809	T	0.043	0.18576	T	10	0.028294206	0.00963	T	0.002721	0.05608	T	0.011	0.01250	.	.	0.104622674875	0.10061	0.14908900613425222	0.14830	0.00181570716921	0.00154	0.340989351273	0.16586	T	0.073552	0.34725	T	-0.549334	0.00294	T	-0.655771	0.08555	T	0.016346734734131	0.00404	T	0.320668	0.06474	T	0.038762882	0.05227	0.045202244	0.06031	0.038762882	0.05227	0.045202244	0.06031	-3.691	0.19185	T	.	.	0.071	0.04238	B	.;.	.;.	0.136433	0.05311	1.802	0.86259552429103714	0.16417	0.03992	0.09411	N	AEFBHCI	0.030644	0.03124	N	-1.34596819581022	0.03167	0.1410232	-1.41071143595939	0.03144	0.1460932	1.53192748259975E-4	0.05650	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	-2.25	0.06498	-0.467000	0.06741	-4.772000	0.01993	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4629:0.0:0.3812:0.1559	4.346	0.10570	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin 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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1413.06	36	chr20	23493042	.	G	A	1413.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.961;DP=266;ExcessHet=0.4139;FS=0.669;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.079;SOR=0.709	GT:AD:DP:GQ:PL	0/1:41,25:66:99:586,0,997	4	0	2	0
chr20	25685642	25685642	C	G	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon3:c.G175C:p.E59Q,ZNF337:NM_015655:exon4:c.G175C:p.E59Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00160653982589	0.0002	0.000399361	0.0002	0.0004	0	0	0	4.497e-05	0.0011	0.0008	0.0001488	23	154602	rs144914818	7.456e-05	7.456e-05	4.901e-05	0.0001	0.0007	6.315e-05	5.873e-05	0.0005	0.0005	0.0001	0	0	0	0	0.0002	3.777e-05	6.623e-05	0.0007	8.535e-05	8.53e-05	0.0001	4.028e-05	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	0.0001	0	6.535e-05	0	0	0	0	1.47e-05	0.0009	0.0008	0.012	0.54683	D	0.141	0.33442	T	0.98	0.59353	D	0.857	0.61067	P	.	.	.	.	1	0.30030	N	1.3	0.32576	L	5.59	0.00834	T	-1.3	0.32590	N	0.147	0.15469	-0.8414	0.52553	T	0.005	0.01761	T	9	0.028848052	0.01014	T	0.001607	0.02600	T	0.053	0.14996	.	.	0.31291088546	0.30898	0.07870271512194264	0.07805	0.164740967889	0.18588	0.424884468317	0.28509	T	0.009698	0.08812	T	-0.609343	0.00128	T	-0.745463	0.03665	T	0.0716144815087318	0.08875	T	0.659934	0.26896	T	0.1442763	0.33124	0.09017919	0.21131	0.1442763	0.33124	0.09017919	0.21131	-6.128	0.47338	T	.	.	0.142	0.31100	B	.;.	.;.	1.740041	0.22144	15.50	0.99007047239060253	0.50273	0.16823	0.19565	N	AEFBHCI	0.026732	0.02059	N	-0.161775157705436	0.34735	1.986299	-0.309518603190487	0.27789	1.544593	0.999830352206965	0.43792	0.741868	0.97996	0	0.774882	0.99574	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	1.85	1.85	0.24418	0.216000	0.17370	-20.000000	0.00162	0.441000	0.21086	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0:1.0:0.0:0.0	8.999	0.35231	735	0.53711	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	828.83	35	chr20	25685642	.	C	G	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=268;ExcessHet=0;FS=2.888;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.06;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	5	0	1	0
chr20	31783865	31783865	G	A	exonic	TPX2	.	nonsynonymous SNV	TPX2:NM_012112:exon12:c.G1357A:p.E453K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0211718752316	7.7e-05	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	3.23e-05	5	154602	rs142374319	2.882e-05	2.941e-05	2.867e-05	2.897e-05	3.534e-05	2.158e-05	1.914e-05	2.372e-05	2.105e-05	3.022e-05	2.322e-05	0	0	0	0	3.24e-05	1.66e-05	3.534e-05	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.076	0.34982	T	0.076	0.74150	T	0.865	0.47557	P	0.648	0.52381	P	0.000098	0.51296	D	0.167646	0.999999	0.58761	D	2.46	0.71463	M	1.42	0.33189	T	-1.82	0.42763	N	0.431	0.47022	-1.0183	0.24269	T	0.109	0.39439	T	10	0.15651464	0.29476	T	0.021172	0.43897	T	0.084	0.24469	.	.	0.228066490088	0.22430	0.425247437258685	0.42441	0.294378152891	0.31862	0.48223054409	0.36364	T	0.046959	0.27581	T	-0.198028	0.21090	T	-0.316724	0.42932	T	0.651890218257904	0.38543	D	0.884012	0.60664	D	0.19205257	0.40859	0.18075202	0.40895	0.19205257	0.40859	0.18075202	0.40894	-9.094	0.68299	D	.	.	0.085	0.42777	B	.;.	.;.	4.812937	0.78317	26.9	0.99791464147188214	0.87750	0.96719	0.70574	D	AEFBI	0.635431	0.61494	D	0.306276681868229	0.56470	3.81176	0.302855006206413	0.55707	3.733543	0.999027117634046	0.38237	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.49	4.54	0.55220	5.669000	0.67750	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0755:0.0:0.9245:0.0	13.352	0.60047	674	0.60593	TPX2 central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	847.83	37	chr20	31783865	.	G	A	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=247;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.13;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	5	0	1	0
chr20	31845230	31845230	C	T	exonic	FOXS1	.	nonsynonymous SNV	FOXS1:NM_004118:exon1:c.G313A:p.G105S	.	4	1515	3	0	0	3	0.00098912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.185940335799	0.0004	0.000199681	0.0006	0.0002	0	0	0.0017	0.0008	0	0.0004	0.0005757	89	154602	rs148349934	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0011	0.0010	0.0001	0.0002	0	0	0.0017	0.0005	0.0011	0.0010	0.0003	0.0008	0.0008	0.0007	0.0009	0.0014	0.0007	0.0006	0.0009	0.0008	0.0002	0.0011	0.0014	0	0	0.0024	0	0.0010	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.9	0.63913	P	0.000143	0.49130	D	0.000000	1	0.81001	D	3.07	0.87108	M	-3.81	0.95728	D	-5.57	0.86372	D	0.7	0.70439	1.084	0.99028	D	0.936	0.97910	D	10	0.31142506	0.48611	T	0.18594	0.85843	D	0.905	0.97398	.	.	0.967329394264	0.96697	0.7773004079283371	0.77680	0.557447716454	0.52361	0.735388875008	0.72294	T	0.610747	0.87660	D	-0.0582359	0.43182	T	0.137714	0.79397	D	0.158489897847176	0.17759	T	0.982502	0.94093	D	0.8811962	0.89765	0.7900858	0.87651	0.8811962	0.89766	0.7900858	0.87652	-11.219	0.80845	D	.	.	0.931	0.85082	P	.	.	6.024332	0.94371	34	0.99873468605368887	0.95076	0.99599	0.97851	D	AEFDBI	0.963799	0.98579	D	0.911314667084832	0.92302	11.347	0.838161545162648	0.92305	11.35109	0.999999999999988	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	7.894000	0.85895	7.433000	0.58809	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	16.979	0.86193	640	0.64132	Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	3419.04	100	chr20	31845230	.	C	T	3419.04	.	AC=2;AF=0.167;AN=12;DP=286;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.19;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	5	1	0	0
chr20	32435669	32435669	A	G	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.A2774G:p.N925S,ASXL1:NM_015338:exon12:c.A2957G:p.N986S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1512	9	1	0	11	0.00362438	.	.	.	137318	not_provided|Bohring-Opitz_syndrome|ASXL1-related_disorder|Myelodysplastic_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297|.|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00287937127919	0.0023	0.000399361	0.0013	9.615e-05	0.0008	0.0007	0	0.0019	0	0.0005	0.0013195	204	154602	rs145132837	0.0018	0.0018	0.0018	0.0018	0.0020	0.0017	0.0017	0.0020	0.0019	0.0003	0.0014	0.0044	0.0003	7.49e-05	0.0014	0.0020	0.0019	0.0005	0.0017	0.0017	0.0016	0.0018	0.0025	0.0015	0.0015	0.0022	0.0021	0.0001	0.0022	0.0025	0.0075	0.0012	0.0003	0.0034	0.0025	0.0014	0.0006	0.151	0.24857	T	0.845	0.03558	T	0.009	0.15093	B	0.005	0.11217	B	0.330902	0.14115	N	0.727897	1	0.08975	N	1.11	0.28643	L	1.87	0.24085	T	-0.56	0.17003	N	0.063	0.03726	-0.9985	0.30339	T	0.039	0.16978	T	10	0.0051077306	0.00111	T	0.002879	0.06074	T	0.020	0.03691	.	.	0.126345400529	0.12197	0.030680859498734895	0.03017	0.0534759902749	0.05892	0.282768934965	0.07882	T	0.055025	0.29890	T	-0.696376	0.00038	T	-0.777063	0.02543	T	0.000305340770864859	0.00002	T	0.680532	0.28920	T	0.017027032	0.00240	0.05065519	0.07992	0.015127004	0.00123	0.049534667	0.07589	-3.295	0.13673	T	.	.	0.077	0.08176	B	.;.;.;.;.	.;.;.;.;.	-1.336153	0.00408	0.008	0.93936370988142259	0.23988	0.16473	0.19405	N	AEFBCI	0.047949	0.08131	N	-1.08364839230901	0.06944	0.3211358	-1.12417870711987	0.07240	0.3514304	0.773234124788052	0.23708	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.66	-1.88	0.07294	-0.231000	0.09081	-4.290000	0.02235	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.5541:0.0:0.4459:0.0	11.098	0.47378	519	0.74455	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.005051	0.010870	0.000000	0.050000	0.000000	0.003049	0.003788	0.1667	4307.06	35	chr20	32435669	.	A	G	4307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=441;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.653;SOR=0.684	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1944,0,2044	4	0	2	0
chr20	32436667	32436667	C	T	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.C3772T:p.P1258S,ASXL1:NM_015338:exon12:c.C3955T:p.P1319S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00234619182913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05046	T	0.647	0.06812	T	0.051	0.22415	B	0.007	0.12992	B	0.202382	0.16567	N	0.652897	0.999991	0.08975	N	1.305	0.32671	L	2.62	0.13095	T	-1.06	0.27669	N	0.026	0.03392	-0.9583	0.39497	T	0.013	0.04938	T	10	0.057924688	0.06729	T	0.002346	0.04535	T	0.074	0.21613	0.15	0.05339	0.303781844768	0.29979	0.20936668306980485	0.20852	0.0586657663734	0.06507	0.30590519309	0.11288	T	0.061518	0.31675	T	-0.351967	0.04604	T	-0.743353	0.03751	T	0.0417370668123628	0.04006	T	0.69713	0.30670	T	0.02102082	0.00684	0.046230048	0.06399	0.02102082	0.00684	0.046230048	0.06398	-3.551	0.17153	T	.	.	0.095	0.19720	B	.;.;.;.;.	.;.;.;.;.	1.624040	0.20739	14.89	0.68307778012287201	0.08618	0.60874	0.31321	D	AEFDBCI	0.068982	0.13634	N	-0.655114491498599	0.17311	0.8897191	-0.496746223180536	0.22244	1.207208	0.848939423267093	0.25007	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	2.61	0.30255	0.923000	0.28364	2.640000	0.33748	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.259000	0.23493	0.1616:0.4635:0.1811:0.1938	1.485	0.02298	516	0.74704	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2996.06	35	chr20	32436667	.	C	T	2996.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.251;DP=400;ExcessHet=0.4139;FS=3.014;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.011;SOR=0.892	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1274,0,1410	4	0	2	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	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	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.1667	1347.06	81	chr20	33083769	.	T	G	1347.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.69;DP=284;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.168;SOR=1.246	GT:AD:DP:GQ:PL	0/1:25,15:40:99:426,0,724	4	0	2	0
chr20	33359095	33359095	C	T	exonic	CDK5RAP1	.	nonsynonymous SNV	CDK5RAP1:NM_001278168:exon13:c.G1481A:p.R494K,CDK5RAP1:NM_001278167:exon14:c.G1709A:p.R570K,CDK5RAP1:NM_001278169:exon14:c.G1631A:p.R544K,CDK5RAP1:NM_016082:exon14:c.G1715A:p.R572K,CDK5RAP1:NM_016408:exon14:c.G1712A:p.R571K,CDK5RAP1:NM_001365728:exon15:c.G1754A:p.R585K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00411516469161	0.0005	0.000798722	0.0006	0.0010	0	0	0	4.504e-05	0.0011	0.0035	0.0004981	77	154602	rs140207780	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0008	0	0	2.519e-05	0	0.0003	5.126e-05	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	0.0006	0	0.0002	0	0	0	0.0034	2.941e-05	0.0009	0.0035	1.0	0.00964	T	0.319	0.19188	T	0.0	0.02946	B	0.001	0.06944	B	0.000002	0.62929	N	0.135620	0.97068	0.26445	N	-0.365	0.03101	N	0.93	0.44065	T	0.76	0.06253	N	0.067	0.07262	-1.0074	0.27727	T	0.037	0.16029	T	10	0.03800693	0.02191	T	0.004115	0.09838	T	0.108	0.30607	.	.	0.192905019026	0.18896	0.41160082409175275	0.41076	0.249098477795	0.27477	0.312568902969	0.12295	T	0.009094	0.08305	T	-0.558215	0.00260	T	-0.576086	0.14896	T	0.000578380564182195	0.00005	T	0.706929	0.31753	T	0.028916532	0.02304	0.05468152	0.09451	0.028916532	0.02303	0.05468152	0.09450	-3.34	0.26853	T	.	.	0.083	0.09094	B	.;.;.;.	.;.;.;.	0.360372	0.07329	3.945	0.39661849657189263	0.02750	0.09757	0.15440	N	AEFDBI	0.050751	0.08899	N	-1.26071805829889	0.04160	0.1872162	-1.13508678608745	0.07039	0.3409255	9.48476947217936E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	0.385	0.15471	0.370000	0.20166	0.426000	0.18273	-0.898000	0.02344	0.954000	0.33273	0.966000	0.29516	0.007000	0.07825	0.0:0.2281:0.0:0.7719	9.248	0.36699	50	0.97644	.;TRAM domain|TRAM domain|Radical SAM|Radical SAM;TRAM domain|TRAM domain|Radical SAM|Radical SAM;TRAM domain|TRAM 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	0.002018	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	874.83	33	chr20	33359095	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=238;ExcessHet=0;FS=2.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.584;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	5	0	1	0
chr20	33791036	33791036	G	A	exonic	ZNF341	.	nonsynonymous SNV	ZNF341:NM_001282935:exon14:c.G1814A:p.R605H,ZNF341:NM_001282933:exon15:c.G2084A:p.R695H,ZNF341:NM_032819:exon15:c.G2063A:p.R688H	.	413	1108	1	0	0	1	0.00045106	.	.	.	1544965	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.218	0.041523307382	.	0.000199681	0.0004	0	0.0004	0	0	4.624e-05	0.0011	0.0027	0.0003493	54	154602	rs548237921	0.0002	0.0002	8.716e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0018	0	0.0002	0	0.0001	0	0	1.709e-05	0.0001	0.0021	7.877e-05	7.874e-05	7.708e-05	8.055e-05	0.0012	4.493e-05	3.509e-05	0.0005	0.0004	0	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0012	0.181	0.21884	T	0.071	0.43531	T	0.999	0.77913	D	0.897	0.67350	P	0.000149	0.49130	D	0.134170	0.999359	0.46766	D	0.975	0.24501	L	0.14	0.60854	T	-2.01	0.46842	N	0.597	0.61596	-0.8231	0.53739	T	0.224	0.58792	T	10	0.04627958	0.03800	T	0.041523	0.59975	D	0.218	0.51265	0.521	0.62368	0.840929399852	0.83941	0.4898094758102553	0.48900	0.959823944306	0.72958	0.846923410892	0.89149	D	0.061897	0.31775	T	-0.359052	0.04184	T	-0.294078	0.45347	T	0.178346416977415	0.19130	T	0.771723	0.40231	T	0.04005627	0.05647	0.05085996	0.08067	0.04005627	0.05647	0.05085996	0.08066	-8.798	0.66387	D	.	.	0.534	0.70718	A	.;.	.;.	5.689925	0.93051	33	0.99947807668314459	0.99923	0.93417	0.58161	D	AEFDBCI	0.746548	0.68888	D	0.514632714167644	0.67956	5.151144	0.507147180693037	0.68471	5.224453	0.999994557930334	0.74766	0.614807	0.35715	0	0.53679	0.11191	0	0.616094	0.41390	0	0.528226	0.09195	0	.	.	4.39	3.42	0.38259	6.456000	0.73418	9.889000	0.82259	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0826:0.1463:0.7711:0.0	9.327	0.37159	244	0.90442	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1903.06	33	chr20	33791036	.	G	A	1903.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.28;DP=302;ExcessHet=0.4139;FS=3.661;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.246;SOR=1	GT:AD:DP:GQ:PL	0/1:40,36:76:99:841,0,940	4	0	2	0
chr20	34076795	34076795	C	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon6:c.C590A:p.A197E,RALY:NM_016732:exon7:c.C638A:p.A213E	.	423	1075	24	0	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0051	0.00339457	0.0096	0.0010	0.0012	0	0.0327	0.0103	0.0103	0.0134	0.008551	1322	154602	rs148075348	0.0076	0.0076	0.0075	0.0078	0.0140	0.0075	0.0075	0.0133	0.0130	0.0007	0.0017	0.0034	0	0.0323	0.0047	0.0068	0.0064	0.0140	0.0071	0.0071	0.0061	0.0081	0.0118	0.0068	0.0066	0.0093	0.0085	0.0010	0.0099	0.0041	0.0040	0	0.0358	0.0068	0.0075	0.0033	0.0118	1.0	0.12920	T	0.599	0.16570	T	0.0	0.02946	B	0.0	0.01387	B	0.001416	0.39109	N	0.244458	0.994676	0.23467	N	-2.135	0.00144	N	1.53	0.30401	T	1.18	0.01107	N	0.13	0.16725	-1.0155	0.25175	T	0.017	0.06759	T	10	0.0016791523	0.00021	T	.	.	.	0.057	0.16321	.	.	0.187035705434	0.18338	0.3971919153121041	0.39634	0.621268039398	0.56420	0.40137887001	0.25261	T	0.049339	0.28278	T	-0.53741	0.00347	T	-0.533052	0.18982	T	0.00179886548524983	0.00018	T	0.709529	0.33779	T	0.08320371	0.19204	0.1449199	0.34389	0.08320371	0.19204	0.1449199	0.34388	-5.046	0.37336	T	.	.	0.079	0.16713	B	.;.;.;.	.;.;.;.	1.151528	0.15394	11.82	0.66063386173952132	0.07950	0.13044	0.17631	N	AEFDGBCI	0.086631	0.17565	N	-0.911816212703854	0.10564	0.5054548	-0.691790987993765	0.17165	0.9115154	0.999739836270387	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	3.13	0.35090	2.806000	0.47644	6.492000	0.55762	-0.306000	0.06133	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.6597:0.3403:0.0:0.0	12.228	0.53784	135	0.94622	.;.;.;.	.	.	.	.	rs148075348	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005051	0.005435	0.014620	0.000000	0.025862	0.015337	0.011364	0.1667	1761.06	35	chr20	34076795	.	C	A	1761.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=274;ExcessHet=0.4139;FS=1.4;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.13;SOR=0.544	GT:AD:DP:GQ:PL	0/1:25,27:52:99:755,0,590	4	0	2	0
chr20	34077063	34077063	G	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon7:c.G646A:p.G216S,RALY:NM_016732:exon8:c.G694A:p.G232S	.	406	1070	40	6	0	52	0.0237226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	0.0085	0	0.0014	0	0	0.0010	0.0064	0.0464	0.0054527	843	154602	rs779745009	0.0033	0.0033	0.0021	0.0047	0.0438	0.0033	0.0032	0.0427	0.0422	0.0002	0.0009	0.0011	0.0002	0.0001	0.0138	0.0006	0.0041	0.0438	0.0022	0.0022	0.0015	0.0028	0.0481	0.0020	0.0019	0.0430	0.0410	0.0003	0	0.0010	0.0017	0.0004	0	0.0068	0.0008	0.0019	0.0481	0.21	0.91255	T	0.27	0.51737	T	0.005	0.17332	B	0.005	0.11217	B	0.571835	0.11231	N	0.722516	0.999999	0.08975	N	1.7	0.43825	L	-2.15	0.86481	D	0.35	0.11913	N	0.245	0.27673	-0.7941	0.55491	T	0.350	0.71383	T	10	0.0029756129	0.00048	T	.	.	.	0.148	0.39182	.	.	0.525901189516	0.52236	0.3463686870031979	0.34550	0.541908027048	0.51315	0.645334661007	0.59323	T	0.077549	0.35681	T	-0.0102055	0.50238	T	-0.252436	0.49577	T	0.0158187146512762	0.00370	T	0.452355	0.19809	T	0.03201276	0.03147	0.038387362	0.03697	0.03201276	0.03147	0.038387362	0.03697	-6.098	0.47207	T	.	.	0.076	0.10449	B	.;.;.;.	.;.;.;.	-0.071250	0.03814	0.812	0.67360986287951718	0.08332	0.12095	0.17056	N	AEFDBCI	0.052155	0.09281	N	-1.13291267909635	0.06065	0.2782377	-1.13330919367617	0.07071	0.3426133	0.953134877470914	0.28056	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.37	2.42	0.28720	-0.028000	0.12299	.	.	-1.756000	0.00682	0.001000	0.13787	.	.	0.000000	0.00833	0.1348:0.0:0.8652:0.0	6.48	0.21256	135	0.94622	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011640	0.005051	0.005435	0.005848	0.000000	0.000000	0.012422	0.045455	0.08333	853.83	93	chr20	34077063	.	G	A	853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.795;DP=389;ExcessHet=0;FS=2.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.546;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	5	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	714.03	118	chr20	34852409	.	G	C	714.03	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.086;DP=729;ExcessHet=3.1439;FS=260.158;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.58;SOR=9.773	GT:AD:DP:GQ:PL	0/0:73,28:116:8:0,8,1358	2	0	4	0
chr20	34914155	34914155	C	A	exonic	ACSS2	.	nonsynonymous SNV	ACSS2:NM_001076552:exon6:c.C703A:p.Q235K,ACSS2:NM_001242393:exon6:c.C418A:p.Q140K,ACSS2:NM_018677:exon6:c.C703A:p.Q235K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0002	0.00239617	0.0011	0.0004	0	0	0	3.008e-05	0.0011	0.0075	0.0009185	142	154602	rs140958101	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0.0002	0	0	0	0	0.0002	4.227e-05	0.0006	0.0062	0.0003	0.0003	0.0003	0.0003	0.0070	0.0002	0.0002	0.0052	0.0045	0.0001	0	6.536e-05	0	0	0	0	2.94e-05	0.0009	0.0070	0.733	0.03972	T	0.682	0.06738	T	0.0	0.02946	B	0.001	0.04355	B	0.000594	0.43095	D	0.270397	0.904172	0.36245	D	0.585	0.15399	N	1.1	0.39050	T	-1.05	0.28497	N	0.253	0.28616	-1.0242	0.22344	T	0.046	0.19760	T	10	0.008834451	0.00200	T	.	.	.	0.055	0.15663	.	.	0.284150004643	0.28039	0.45457420470967724	0.45375	0.238849273163	0.26437	0.323539853096	0.13957	T	0.090551	0.38608	T	-0.542122	0.00325	T	-0.548885	0.17432	T	0.00493784663814429	0.00053	T	0.906909	0.67118	D	0.06748039	0.14615	0.08112738	0.18412	0.087380625	0.20344	0.06753324	0.13983	-1.795	0.03688	T	.	.	0.072	0.04119	B	.;.	.;.	2.472105	0.31864	18.87	0.69946968909606544	0.09136	0.85960	0.45156	D	AEFBI	0.275338	0.39032	N	-0.678504883934289	0.16635	0.8492888	-0.430552584947336	0.24106	1.318187	0.998558738295425	0.37186	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.24	3.21	0.35933	2.173000	0.42099	4.897000	0.45822	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0906:0.4608:0.4487:0.0	8.76	0.33829	.	.	AMP-dependent synthetase/ligase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1166.83	36	chr20	34914155	.	C	A	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=278;ExcessHet=0;FS=2.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.198;SOR=0.992	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr20	34942978	34942978	G	A	exonic	GSS	.	nonsynonymous SNV	GSS:NM_000178:exon4:c.C304T:p.R102C,GSS:NM_001322494:exon4:c.C304T:p.R102C,GSS:NM_001322495:exon4:c.C304T:p.R102C	Glutathione synthetase deficiency, Autosomal recessive;Hemolytic anemia due to glutathione synthetase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.109938617901	7.7e-05	.	9.974e-06	0	0	0	0	1.772e-05	0	0	6.5e-06	1	154602	rs373345937	2.603e-05	2.873e-05	2.181e-05	3.03e-05	3.497e-05	1.935e-05	1.695e-05	2.119e-05	1.864e-05	2.988e-05	0	0	0	0	0	2.971e-05	1.658e-05	3.497e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.055	0.46862	T	0.156	0.28196	B	0.014	0.16862	B	0.000037	0.55875	D	0.190982	1	0.81001	D	3.025	0.86340	M	-3.05	0.92407	D	-4.36	0.76980	D	0.54	0.56748	0.481	0.90279	D	0.744	0.91245	D	10	0.7476995	0.75409	D	0.109939	0.78711	D	0.702	0.89284	.	.	0.936997594517	0.93635	0.7104429307262158	0.70986	0.7935012027	0.65923	0.234681844711	0.02332	T	0.960759	0.99494	D	0.218762	0.75658	D	0.07646	0.75341	D	0.969460487365723	0.68599	D	0.969503	0.90777	D	0.6092957	0.73190	0.3092043	0.56936	0.6092957	0.73191	0.3092043	0.56935	-9.154	0.68683	D	0.8152850573208398	0.88940	0.119	0.25592	B	.;.;.;.;.;.	.;.;.;.;.;.	4.257236	0.64674	24.7	0.99719330286393937	0.81914	0.97177	0.73143	D	AEFDGBI	0.742053	0.68579	D	0.155853080184261	0.49090	3.113277	0.242651192508241	0.52232	3.399471	0.999953036586828	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	4.37	0.51830	6.331000	0.72885	4.582000	0.43923	0.676000	0.76740	0.963000	0.33788	0.969000	0.29651	0.941000	0.48210	0.0:0.0:0.8481:0.1519	14.060	0.64316	.	.	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	723.83	33	chr20	34942978	.	G	A	723.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=239;ExcessHet=0;FS=4.895;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.747;SOR=0.909	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.1667	4470.04	137	chr20	35000390	.	G	A	4470.04	.	AC=2;AF=0.167;AN=12;DP=324;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.63;SOR=1.381	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1335	5	1	0	0
chr20	35618119	35618119	C	T	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon5:c.C340T:p.P114S,SPAG4:NM_003116:exon5:c.C571T:p.P191S	.	430	1046	43	3	0	49	0.0228865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0006	0.0105831	0.0054	9.846e-05	0.0009	0.0001	0	0.0009	0.0078	0.0353	0.0047412	733	154602	rs140056855	0.0027	0.0027	0.0017	0.0037	0.0329	0.0026	0.0026	0.0319	0.0315	0.0003	0.0008	0.0021	0.0001	3.744e-05	0.0106	0.0007	0.0033	0.0329	0.0020	0.0020	0.0016	0.0024	0.0397	0.0018	0.0017	0.0351	0.0333	0.0002	0	0.0017	0.0026	0.0008	0	0.0034	0.0008	0.0033	0.0397	0.047	0.50676	D	0.196	0.27943	T	0.483	0.36807	P	0.122	0.32387	B	0.009356	0.30401	N	0.272384	0.543505	0.31393	N	1.87	0.49600	L	2.3	0.21119	T	-0.88	0.28497	N	0.344	0.38541	-1.0369	0.18264	T	0.044	0.18906	T	10	0.002945125	0.00048	T	.	.	.	0.022	0.04323	.	.	0.43965937752	0.43585	0.6364650575286341	0.63580	0.678647379448	0.59893	0.366997569799	0.20400	T	0.023422	0.17879	T	-0.549546	0.00293	T	-0.537094	0.18583	T	0.00899036296490133	0.00112	T	0.775222	0.40690	T	0.0676733	0.14677	0.08424283	0.19364	0.0676733	0.14676	0.08424283	0.19364	-3.227	0.12813	T	.	.	0.130	0.27762	B	.;.	.;.	2.679779	0.34951	19.77	0.9933598505083997	0.59973	0.67838	0.33579	D	AEFDBCI	0.197722	0.32462	N	-0.0592127924215001	0.39192	2.307264	-0.00617359354353439	0.39435	2.338182	0.99999398983417	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.14	3.2	0.35826	0.996000	0.29320	1.925000	0.29735	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.861000	0.40843	0.0:0.8882:0.0:0.1118	7.767	0.28147	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.034091	0.08333	433.83	34	chr20	35618119	.	C	T	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.176;SOR=0.741	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1230	5	0	1	0
chr20	37198448	37198448	C	G	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001324299:exon3:c.C259G:p.L87V,RPN2:NM_001324301:exon3:c.C259G:p.L87V,RPN2:NM_001324302:exon3:c.C259G:p.L87V,RPN2:NM_001324303:exon3:c.C259G:p.L87V,RPN2:NM_001324304:exon3:c.C259G:p.L87V,RPN2:NM_001324305:exon3:c.C259G:p.L87V,RPN2:NM_002951:exon3:c.C259G:p.L87V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0103287833764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.25154	T	0.077	0.42436	T	0.243	0.30970	B	0.136	0.33270	B	0.000175	0.48594	D	0.141330	0.999417	0.81001	D	1.465	0.36909	L	0.89	0.45636	T	-0.71	0.21860	N	0.465	0.50146	-1.0652	0.10502	T	0.097	0.36419	T	10	0.35368067	0.52169	T	0.010329	0.26741	T	0.051	0.14325	0.682	0.81982	0.552615868945	0.54919	0.5223082908815949	0.52153	0.282424852503	0.30701	0.593450725079	0.51981	T	0.063561	0.32207	T	-0.159919	0.26773	T	-0.467489	0.25786	T	0.567760944366455	0.35149	D	0.89941	0.64770	D	0.111771375	0.26410	0.10968393	0.26437	0.111771375	0.26409	0.10968393	0.26436	-3.996	0.23744	T	.	.	0.083	0.20934	B	.;.	.;.	2.523405	0.32609	19.09	0.99266358720967462	0.57390	0.96148	0.67752	D	AEFDBI	0.449115	0.50407	N	0.0248324785575206	0.42985	2.60053	0.182657573791992	0.48896	3.09963	0.999989981043621	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	2.784000	0.47462	4.059000	0.41572	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.870000	0.41412	0.0:1.0:0.0:0.0	16.252	0.82316	352	0.85375	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3389.06	37	chr20	37198448	.	C	G	3389.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.401;DP=481;ExcessHet=0.4139;FS=4.471;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.2;SOR=0.487	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1544,0,2037	4	0	2	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	89.16	72	chr20	38497424	.	A	G	89.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.625;DP=364;ExcessHet=0.4139;FS=199.774;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.768;SOR=8.015	GT:AD:DP:GQ:PL	0/0:55,19:74:2:0,2,1002	4	0	2	0
chr20	39038505	39038505	T	C	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon21:c.T1981C:p.S661P,DHX35:NM_021931:exon22:c.T2074C:p.S692P	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0070	0.00758786	0.0092	0.0020	0.0032	0.0002	0.0048	0.0092	0.0056	0.0246	0.0088227	1364	154602	rs146274322	0.0085	0.0085	0.0079	0.0092	0.0229	0.0084	0.0084	0.0221	0.0218	0.0014	0.0036	0.0085	0.0001	0.0060	0.0120	0.0082	0.0088	0.0229	0.0063	0.0063	0.0064	0.0061	0.0225	0.0059	0.0058	0.0191	0.0178	0.0015	0	0.0051	0.0124	0.0002	0.0041	0.0102	0.0089	0.0028	0.0225	0.025	0.48186	D	0.083	0.41405	T	0.915	0.50599	P	0.255	0.39216	B	0.028481	0.25594	N	0.436440	0.999924	0.58761	D	1.875	0.49914	L	4.02	0.32958	T	-0.82	0.34198	N	0.288	0.32591	-1.0733	0.08702	T	0.071	0.28773	T	10	0.0060763657	0.00137	T	.	.	.	0.145	0.38592	.	.	0.519675384768	0.51611	0.44099468402265024	0.44016	0.313503313738	0.33640	0.624079525471	0.56304	T	0.007988	0.07355	T	-0.175356	0.24431	T	-0.00573911	0.69964	D	0.0229375191028442	0.01015	T	0.810219	0.47570	T	0.1994504	0.41885	0.21744236	0.46410	0.1994504	0.41885	0.21744236	0.46409	-4.734	0.33813	T	.	.	0.090	0.43088	B	.;.;.;.	.;.;.;.	3.976553	0.58430	24.0	0.99791260496374268	0.87661	0.96421	0.69056	D	AEFBI	0.670895	0.63782	D	0.426617905938296	0.62889	4.512632	0.482390742663397	0.66825	5.002606	0.999999186857235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	5.077000	0.64249	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	13.358	0.60082	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.008152	0.005848	0.050000	0.008621	0.012195	0.026515	0.08333	579.83	36	chr20	39038505	.	T	C	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.562;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.234;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	5	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	222.34	51	chr20	41100210	.	T	C	222.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.157;DP=255;ExcessHet=0.4139;FS=71.059;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.32;SOR=6.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,15:53:36:.:.:36,0,677:.	3	0	2	1
chr20	42104672	42104672	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon25:c.G3437A:p.C1146Y,PTPRT:NM_133170:exon26:c.G3494A:p.C1165Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.0376718642772	.	.	8.283e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs767659521	1.181e-05	1.163e-05	6.928e-06	1.673e-05	0.0002	7.2e-06	5.88e-06	0.0001	9.497e-05	0	2.238e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.169	0.32461	T	0.998	0.77913	D	0.986	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	1.6	0.28604	T	-8.62	0.97496	D	0.949	0.95725	-0.7020	0.60343	T	0.202	0.55877	T	10	0.81026804	0.80318	D	0.037672	0.57762	D	0.569	0.82460	0.497	0.58678	0.731377292797	0.72898	0.7340022374625954	0.73345	2.073624099	0.94498	0.91890835762	0.98239	D	0.62672	0.88377	D	0.0601385	0.59630	T	0.122908	0.78425	D	0.780059695243835	0.45053	D	0.945305	0.79188	D	0.88993526	0.90501	0.9035253	0.95226	0.88993526	0.90503	0.9035253	0.95227	-12.279	0.86791	D	0.6387453730410562	0.70914	0.991	0.94026	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.294824	0.88897	29.8	0.9980463097714356	0.88906	0.99048	0.90464	D	AEFGBI	0.944753	0.95222	D	0.817778292228027	0.87206	9.138094	0.782534669400496	0.88554	9.625682	0.999999962632102	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	7.902000	0.86082	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.482	0.90762	814	0.42100	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1361.83	36	chr20	42104672	.	C	T	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.837;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.022;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	5	0	1	0
chr20	43566523	43566523	A	C	exonic	SGK2	.	nonsynonymous SNV	SGK2:NM_016276:exon1:c.A208C:p.S70R,SGK2:NM_001199264:exon2:c.A28C:p.S10R,SGK2:NM_170693:exon2:c.A28C:p.S10R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0265517296392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.237	0.29843	T	0.018	0.32767	B	0.021	0.28749	B	0.367953	0.04344	N	1.530280	0.619301	0.32691	D	0.895	0.22405	L	-0.57	0.71425	T	-0.92	0.32991	N	0.289	0.32701	-0.8588	0.51348	T	0.195	0.54884	T	10	0.19394857	0.42986	T	0.026552	0.49448	D	0.173	0.43840	0.206	0.12216	0.788914174019	0.78696	0.498051164515856	0.49726	0.255115430892	0.28099	0.464425474405	0.33916	T	0.118386	0.43917	T	-0.0116313	0.50036	T	-0.254484	0.49374	T	0.555326342582703	0.34678	D	0.753825	0.37593	T	0.1302686	0.30401	0.17129673	0.39302	0.1302686	0.30401	0.17129673	0.39301	-9.223	0.69121	D	.	.	0.259	0.49373	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.995237	0.40004	21.1	0.99106778923680516	0.52623	0.83433	0.42550	D	AEFBI	0.370340	0.45675	N	-0.361926627025461	0.26837	1.467717	-0.254788719182319	0.29605	1.660079	0.00453469863688006	0.10604	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.62	3.62	0.40616	3.553000	0.53459	3.826000	0.39973	0.756000	0.94297	0.975000	0.34726	0.996000	0.32793	0.619000	0.31870	1.0:0.0:0.0:0.0	8.924	0.34785	709	0.56835	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1079.06	34	chr20	43566523	.	A	C	1079.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.1;DP=275;ExcessHet=0.4139;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.19;SOR=0.813	GT:AD:DP:GQ:PL	0/1:33,24:57:99:568,0,895	4	0	2	0
chr20	44006673	44006673	G	A	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon3:c.G166A:p.G56S,TOX2:NM_001098797:exon3:c.G292A:p.G98S,TOX2:NM_001098798:exon3:c.G319A:p.G107S,TOX2:NM_032883:exon4:c.G166A:p.G56S	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00301271081974	0.0026	0.00179712	0.0024	0.0012	0.0002	0	0.0012	0.0035	0.0044	0.0024	0.0024321	376	154602	rs139380167	0.0037	0.0037	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0042	0.0008	0.0003	0.0009	0	0.0009	0.0026	0.0044	0.0035	0.0024	0.0025	0.0025	0.0027	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0011	0.0274	0.0003	0.0009	0.0002	0.0011	0	0.0040	0.0009	0.0035	0.786	0.03235	T	0.741	0.04965	T	0.108	0.26116	B	0.013	0.16460	B	0.003103	0.35419	N	0.309579	0.869857	0.28683	N	-0.345	0.03330	N	1.05	0.39990	T	0.41	0.05035	N	0.221	0.26111	-1.0914	0.05303	T	0.027	0.11663	T	10	0.0060950518	0.00137	T	0.003013	0.06457	T	0.065	0.18881	.	.	0.209943299407	0.20609	0.366609849214609	0.36574	0.336715624653	0.35668	0.382082521915	0.22552	T	0.002832	0.02227	T	-0.45935	0.00992	T	-0.430682	0.29857	T	0.00857870038714218	0.00105	T	0.841416	0.52334	T	0.02855788	0.02212	0.041475408	0.04721	0.02855788	0.02211	0.041475408	0.04721	-3.144	0.11927	T	.	.	0.061	0.01143	B	.;.;.;.	.;.;.;.	1.255407	0.16525	12.60	0.93091309521907362	0.22715	0.63730	0.32181	D	AEFDGBHCI	0.165826	0.29235	N	-0.51199534030107	0.21690	1.153021	-0.320731566376458	0.27429	1.521993	0.999997080771435	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.24	1.59	0.22622	1.190000	0.31735	-0.378000	0.09560	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.5819:0.0:0.4181:0.0	5.850	0.17940	522	0.74218	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003024	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.007576	0.08333	2837.83	194	chr20	44006673	.	G	A	2837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=373;ExcessHet=0;FS=1.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.218;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	5	0	1	0
chr20	44051315	44051315	A	G	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon4:c.A295G:p.M99V,TOX2:NM_001098797:exon4:c.A421G:p.M141V,TOX2:NM_001098798:exon4:c.A448G:p.M150V,TOX2:NM_032883:exon5:c.A295G:p.M99V	.	424	1048	47	3	0	53	0.0246626	.	.	.	705498	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00539137	0.0069	0.0017	0.0062	0.0030	0.0015	0.0085	0.0164	0.0079	0.0064682	1000	154602	rs41279272	0.0061	0.0061	0.0059	0.0063	0.0340	0.0060	0.0060	0.0301	0.0286	0.0011	0.0066	0.0385	0.0021	0.0014	0.0340	0.0055	0.0091	0.0070	0.0057	0.0057	0.0058	0.0056	0.0070	0.0054	0.0053	0.0065	0.0063	0.0011	0	0.0070	0.0415	0.0029	0.0010	0.0411	0.0070	0.0133	0.0068	0.012	0.57480	D	0.039	0.51112	D	0.325	0.33132	B	0.06	0.26717	B	0.014830	0.28418	N	0.426812	0.990814	0.41242	D	1.65	0.42232	L	1.09	0.39223	T	-1.29	0.35194	N	0.718	0.72031	-0.9537	0.40327	T	0.045	0.19316	T	10	0.005722612	0.00127	T	.	.	.	0.132	0.35948	.	.	0.415955377315	0.41215	0.5655904180921868	0.56486	0.59240676416	0.54630	0.716925263405	0.69599	T	0.037393	0.24461	T	-0.330464	0.06077	T	-0.24346	0.50460	T	0.0154007402693536	0.00344	T	0.887611	0.61581	D	0.23386055	0.46197	0.26654023	0.52500	0.23386055	0.46197	0.26654023	0.52499	-4.574	0.31982	T	.	.	0.209	0.51874	B	.;.;.;.	.;.;.;.	3.473202	0.48468	22.6	0.87758277527904116	0.17460	0.98286	0.81270	D	AEFDGBI	0.561569	0.56951	D	-0.105033052101989	0.37172	2.158918	0.0124872738930544	0.40293	2.402406	0.480808113755305	0.20784	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.58	5.58	0.84361	2.220000	0.42549	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8443:0.1556:0.0:0.0	11.016	0.46905	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.010101	0.028533	0.040936	0.000000	0.051724	0.021341	0.026515	0.08333	576.83	29	chr20	44051315	.	A	G	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.926;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.144;SOR=0.76	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	0	1	0
chr20	45313575	45313575	C	T	exonic	RBPJL	.	stopgain	RBPJL:NM_001281448:exon7:c.C727T:p.R243X,RBPJL:NM_001281449:exon7:c.C727T:p.R243X,RBPJL:NM_014276:exon7:c.C727T:p.R243X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0003	0	0.0002	0.0001	0	6.402e-05	0	0.0022	0.0002652	41	154602	rs566580473	0.0001	0.0001	9.808e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	2.99e-05	0.0002	0	0	0	0.0011	3.96e-05	0.0001	0.0014	7.22e-05	7.873e-05	2.569e-05	0.0001	0.0012	3.967e-05	3.124e-05	0.0005	0.0004	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.425	0.46462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124053	0.66777	D	0.380789	0.91460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	7.795151	0.96869	36	0.99790160493211488	0.87572	0.20261	0.20975	N	AEFDGBI	0.329115	0.42956	N	0.0599671504877334	0.44602	2.731261	-0.2156053377478	0.30976	1.748799	0.43406212198118	0.20397	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.85	1.51	0.22094	0.147000	0.16021	2.506000	0.33051	-0.218000	0.08083	0.003000	0.16062	0.969000	0.29651	0.778000	0.36829	0.611:0.3889:0.0:0.0	13.602	0.61492	872	0.31118	.;Beta-trefoil DNA-binding domain|Beta-trefoil DNA-binding domain;Beta-trefoil DNA-binding domain|Beta-trefoil DNA-binding 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	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	579.83	54	chr20	45313575	.	C	T	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=233;ExcessHet=0;FS=3.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.341;SOR=0.771	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1328	5	0	1	0
chr20	45876767	45876767	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C209T:p.T70M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00480321930846	.	0.000599042	0.0006	0	0	0	0	1.502e-05	0	0.0043	0.0004851	75	154602	rs573326472	0.0002	0.0002	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	0	1.872e-05	0	1.709e-05	0.0002	0.0038	0.0001	0.0001	6.424e-05	0.0002	0.0041	9.741e-05	8.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.013	0.53900	D	0.055	0.46862	T	0.865	0.47557	P	0.131	0.32951	B	0.299983	0.14615	N	0.671682	1	0.08975	N	2.08	0.57402	M	1.9	0.23486	T	0.05	0.06369	N	0.24	0.27077	-1.0620	0.11263	T	0.033	0.14247	T	10	0.0035443306	0.00064	T	0.004803	0.12004	T	0.007	0.00512	0.245	0.17984	0.141422826196	0.13715	0.4031961276512099	0.40235	0.367479578391	0.38306	0.363446593285	0.19887	T	0.020088	0.15881	T	-0.538321	0.00343	T	-0.546557	0.17658	T	0.0211275144703937	0.00814	T	0.789321	0.42944	T	0.036704864	0.04566	0.053494483	0.09022	0.036704864	0.04565	0.053494483	0.09021	-4.63	0.32546	T	.	.	0.094	0.14385	B	.	.	2.465282	0.31763	18.84	0.99344700346251558	0.60331	0.05434	0.11308	N	AEFBI	0.042960	0.06730	N	-0.533127670415854	0.21016	1.112209	-0.617984099759298	0.19030	1.019303	0.992284832802798	0.32785	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.36	2.07	0.26004	0.588000	0.23626	1.369000	0.25941	0.599000	0.40250	0.061000	0.21800	0.325000	0.24344	0.379000	0.26312	0.4467:0.4625:0.0:0.0908	6.316	0.20399	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2959.04	35	chr20	45876767	.	C	T	2959.04	.	AC=2;AF=0.167;AN=12;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.52;SOR=1.46	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1392	5	1	0	0
chr20	45886756	45886756	G	A	exonic	SPATA25	.	stopgain	SPATA25:NM_080608:exon2:c.C445T:p.Q149X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0	0	0.0017	0.000194	30	154602	rs541634704	8.62e-05	8.619e-05	2.995e-05	0.0001	0.0014	7.354e-05	6.904e-05	0.0012	0.0012	0	0	0	0	0	0	0	3.311e-05	0.0014	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000083	0.51296	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201729	0.74054	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672952	0.97867	38	0.99732591896208422	0.82904	0.87940	0.47658	D	AEFDBHCI	0.081015	0.16388	N	1.06441645208058	0.97417	16.09302	0.904351554665136	0.95760	13.93964	0.999999800683877	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	1.712000	0.37560	8.731000	0.78185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0933:0.0:0.9067:0.0	9.476	0.38037	758	0.50837	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2540.04	33	chr20	45886756	.	G	A	2540.04	.	AC=2;AF=0.167;AN=12;DP=260;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.75;SOR=1.096	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	5	1	0	0
chr20	45891598	45891598	-	CTG	exonic	CTSA	.	nonframeshift insertion	CTSA:NM_000308:exon2:c.30_31insCTG:p.L19_V20insL,CTSA:NM_001127695:exon2:c.30_31insCTG:p.L19_V20insL,CTSA:NM_001167594:exon2:c.84_85insCTG:p.L37_V38insL	Galactosialidosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	621643	CTSA-related_disorder|not_specified|Combined_deficiency_of_sialidase_AND_beta_galactosidase|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009737,MedGen:C0268233,OMIM:256540,Orphanet:351|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0059	0.0013	0.0035	0.0005	0.0020	0.0094	0.0028	0.0012	0.00011	17	154602	rs540291608	0.0059	0.0057	0.0060	0.0057	0.0067	0.0057	0.0057	0.0066	0.0066	0.0009	0.0025	0.0110	0.0007	0.0023	0.0035	0.0067	0.0055	0.0012	0.0046	0.0046	0.0051	0.0041	0.0078	0.0044	0.0042	0.0072	0.0070	0.0009	0	0.0038	0.0110	0.0011	0.0021	0.0034	0.0078	0.0029	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8637.02	43	chr20	45891598	.	C	CCTG	8637.02	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=304;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.27;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PL	0/1:2,27:61:99:2312,1208,1211	5	0	1	0
chr20	46056217	46056217	G	A	exonic	SLC12A5	.	nonsynonymous SNV	SLC12A5:NM_001134771:exon22:c.G2924A:p.R975H,SLC12A5:NM_020708:exon22:c.G2855A:p.R952H	Epileptic encephalopathy, early infantile, 34, Autosomal recessive	424	1074	23	1	0	25	0.0115048	.	.	.	215104	SLC12A5-related_disorder|not_provided|Epilepsy,_idiopathic_generalized,_susceptibility_to,_14|Developmental_and_epileptic_encephalopathy,_34	.|MedGen:C3661900|MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645,Orphanet:293181	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.666	.	0.0005	0.00359425	0.0034	0.0004	0.0010	0.0002	0.0002	0.0012	0.0033	0.0186	0.0029819	461	154602	rs142740233	0.0022	0.0022	0.0015	0.0028	0.0190	0.0021	0.0021	0.0182	0.0179	0.0003	0.0005	0.0099	0.0001	0.0001	0.0045	0.0010	0.0022	0.0190	0.0013	0.0013	0.0014	0.0013	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0005	0.0092	0.0006	0	0	0.0012	0.0009	0.0145	0.057	0.37966	T	0.144	0.33109	T	0.001	0.09854	B	0.001	0.06944	B	0.007119	0.31595	N	0.269330	0.644884	0.32910	D	-0.205	0.04094	N	0.83	0.47815	T	-1.32	0.32991	N	0.735	0.73555	-0.9958	0.31082	T	0.106	0.38661	T	10	0.007701069	0.00175	T	.	.	.	0.666	0.87576	.	.	0.36413608308	0.36018	0.6965851662878576	0.69599	0.205256797494	0.22944	0.435112118721	0.29908	T	0.300205	0.67271	T	-0.530051	0.00384	T	-0.519221	0.20372	T	0.0103095291409408	0.00141	T	0.848715	0.53056	T	0.070505686	0.15535	0.07315132	0.15865	0.07981876	0.18256	0.0678229	0.14081	-6.487	0.50186	T	.	.	0.068	0.03093	B	.;.	.;.	3.354920	0.46288	22.3	0.97801804319768593	0.36071	0.72452	0.35462	D	AEFDGBHCI	0.340412	0.43724	N	-0.411326066420493	0.25072	1.358304	-0.312489712344542	0.27695	1.538611	0.732868416677542	0.23079	0.549168	0.22868	0	0.547309	0.14657	0	0.61531	0.40942	0	0.616125	0.45549	0	.	.	4.8	3.86	0.43689	2.973000	0.48956	8.636000	0.77873	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1711:0.0:0.8289:0.0	8.706	0.33518	862	0.33134	SLC12A transporter, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	1541.83	123	chr20	46056217	.	G	A	1541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=298;ExcessHet=0;FS=1.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-2.133;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1213	5	0	1	0
chr20	46174785	46174785	C	-	exonic	CDH22	.	frameshift deletion	CDH22:NM_021248:exon12:c.2208delG:p.P737Rfs*167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	827.79	34	chr20	46174784	.	GC	G	827.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=237;ExcessHet=0;FS=2.257;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.724;SOR=1.07	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	5	0	1	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002494	0.000000	0.000000	0.004505	0.000000	0.000000	0.000000	0.000000	0.08333	1532.83	34	chr20	46541318	.	C	T	1532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.406;DP=332;ExcessHet=0;FS=0.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.003;SOR=0.593	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	0
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.005848	0.000000	0.008621	0.033537	0.015152	0.08333	1522.83	35	chr20	49096393	.	G	T	1522.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.255;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.078;SOR=0.693	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1533,0,1473	5	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	894	0.26265	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.08333	2293.83	35	chr20	49257526	.	T	C	2293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=347;ExcessHet=0;FS=0.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.332;SOR=0.608	GT:AD:DP:GQ:PL	0/1:72,87:159:99:2304,0,1872	5	0	1	0
chr20	50581336	50581336	C	T	exonic	PTPN1	.	nonsynonymous SNV	PTPN1:NM_001278618:exon8:c.C941T:p.P314L,PTPN1:NM_002827:exon9:c.C1160T:p.P387L	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0119604484481	0.0050	0.00239617	0.0053	0.0014	0.0020	0	0.0055	0.0082	0.0044	0.0009	0.005291	818	154602	rs16995309	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0068	0.0068	0.0007	0.0032	0.0036	0	0.0045	0.0031	0.0070	0.0050	0.0012	0.0049	0.0049	0.0053	0.0045	0.0073	0.0046	0.0045	0.0068	0.0066	0.0013	0.0308	0.0048	0.0055	0	0.0047	0.0034	0.0073	0.0076	0.0006	0.078	0.35726	T	0.214	0.26467	T	0.072	0.23997	B	0.05	0.25278	B	0.060419	0.22250	N	0.410909	0.999999	0.08975	N	1.445	0.36358	L	3.54	0.04799	T	-1.93	0.44852	N	0.047	0.01911	-0.9353	0.43349	T	0.007	0.02598	T	10	0.0034552217	0.00061	T	0.01196	0.30096	T	0.022	0.04323	.	.	0.082315109003	0.07666	0.36964659642135433	0.36878	0.763203918308	0.64373	0.295468509197	0.09727	T	0.016831	0.65741	T	-0.677687	0.00049	T	-0.736832	0.04025	T	0.00437208734499863	0.00047	T	0.458554	0.13215	T	0.02661505	0.01741	0.033439793	0.02239	0.02661505	0.01740	0.033439793	0.02239	-3.761	0.20223	T	.	.	0.070	0.03625	B	.;.	.;.	0.720794	0.10898	7.570	0.69860415979195511	0.09108	0.07621	0.13630	N	AEFDBHCI	0.040497	0.06031	N	-1.18488720489058	0.05228	0.2378467	-1.13334441732454	0.07071	0.3425795	0.999999972051375	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.14	0.35196	1.657000	0.36981	0.790000	0.21560	-0.172000	0.11096	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	0.1068:0.6699:0.1036:0.1197	7.038	0.24182	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	.	.	.	.	.	.	.	.	0.08333	1171.83	42	chr20	50581336	.	C	T	1171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-2.308;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	5	0	1	0
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V,ZNF217:NM_006526:exon2:c.A1228G:p.M410V	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	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	0.020645	0.000000	0.014946	0.020468	0.000000	0.008621	0.021341	0.034091	0.1667	2562.06	34	chr20	53581599	.	T	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.958;DP=305;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.79;SOR=0.853	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1350,0,808	4	0	2	0
chr20	57652114	57652114	G	A	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon4:c.C719T:p.P240L,PMEPA1:NM_020182:exon4:c.C803T:p.P268L,PMEPA1:NM_199169:exon4:c.C698T:p.P233L,PMEPA1:NM_199170:exon4:c.C653T:p.P218L,PMEPA1:NM_199171:exon4:c.C653T:p.P218L	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0019	0.00179712	0.0065	0.0003	0.0104	0	0	0.0089	0.0135	0.0057	0.0022121	342	154602	rs148829733	0.0029	0.0029	0.0028	0.0030	0.0093	0.0028	0.0028	0.0073	0.0066	0.0006	0.0036	0.0035	2.605e-05	0.0004	0.0093	0.0030	0.0033	0.0040	0.0022	0.0022	0.0022	0.0021	0.0046	0.0020	0.0019	0.0038	0.0035	0.0007	0	0.0046	0.0020	0	0.0004	0.0170	0.0029	0.0024	0.0031	0.007	0.68238	D	0.027	0.63918	D	0.137	0.27402	B	0.037	0.23121	B	0.404171	0.13084	N	0.715319	0.706254	0.33472	D	0.69	0.16971	N	0.97	0.42502	T	-3.43	0.68298	D	0.259	0.42149	-0.9347	0.43439	T	0.083	0.32671	T	10	0.0076191127	0.00173	T	.	.	.	0.029	0.06676	.	.	0.12205267543	0.11705	0.36309227256854276	0.36223	0.632557692363	0.57183	0.494021475315	0.37997	T	0.197134	0.55371	T	-0.52124	0.00433	T	-0.522975	0.19995	T	0.0167556808589164	0.00431	T	0.867913	0.56927	D	0.05512273	0.10670	0.058195956	0.10713	0.05512273	0.10670	0.058195956	0.10712	-4.941	0.36193	T	0.2378468361591428	0.32211	0.113	0.22245	B	.;.;.;.;.	.;.;.;.;.	1.750648	0.22270	15.55	0.96805604297800951	0.31169	0.71454	0.35020	D	AEFDGBCI	0.247569	0.36812	N	-0.436719195244775	0.24192	1.304559	-0.395558123697557	0.25129	1.380115	0.990729299226161	0.32248	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.47	3.38	0.37806	1.325000	0.33330	5.046000	0.46955	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.004000	0.06068	0.0:0.3685:0.4945:0.137	7.425	0.26266	863	0.32847	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009128	0.015625	0.005450	0.011834	0.000000	0.000000	0.018519	0.007576	0.08333	749.83	76	chr20	57652114	.	G	A	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.9;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,982	5	0	1	0
chr20	58669310	58669310	G	A	exonic	STX16	.	nonsynonymous SNV	STX16:NM_001134772:exon4:c.G401A:p.R134H,STX16:NM_003763:exon4:c.G350A:p.R117H,STX16:NM_001001433:exon5:c.G413A:p.R138H,STX16:NM_001134773:exon5:c.G362A:p.R121H,STX16:NM_001204868:exon6:c.G254A:p.R85H	Pseudohypoparathyroidism, type IB, Autosomal dominant	5	1515	2	0	0	2	0.000659631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0681031549003	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334454753	2.056e-06	2.736e-06	2.728e-06	1.377e-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	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	0.008	0.61437	D	0.087	0.55759	T	0.967	0.70673	D	0.445	0.72444	B	0.000001	0.62929	U	0.000000	1	0.81001	D	2.7	0.79018	M	2.24	0.17923	T	-2.99	0.62343	D	0.69	0.69825	-0.8199	0.53940	T	0.160	0.49413	T	10	0.75052375	0.75603	D	0.068103	0.70356	D	0.323	0.64522	0.531	0.63855	0.622170985595	0.61910	0.4253428016723434	0.42451	1.10527459475	0.77874	0.807765185833	0.83149	D	0.282659	0.65540	T	0.0942764	0.63668	D	-0.102355	0.63216	T	0.996785283088684	0.90073	D	0.983802	0.95317	D	0.29934064	0.52845	0.2013817	0.44115	0.29934064	0.52845	0.2013817	0.44114	-7.853	0.62774	D	0.43569592227828735	0.52208	0.159	0.36113	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.387318	0.90267	31	0.99949013850374158	0.99931	0.99042	0.90377	D	AEFDGBCIJ	0.912935	0.87424	D	0.891692914619408	0.91346	10.83759	0.881924674931991	0.94736	12.99932	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.504199	0.09095	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.519000	0.97069	9.861000	0.82057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.853	0.92209	963	0.08280	.;.;.;Syntaxin, N-terminal domain;.;.;Syntaxin, N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1371.83	86	chr20	58669310	.	G	A	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=407;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.03;SOR=0.488	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	1	0
chr20	62310913	62310913	G	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon74:c.C10270A:p.R3424S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.155783112186	.	.	9.508e-06	0	0	0	0	1.743e-05	0	0	6.5e-06	1	154602	rs373853818	1.166e-05	1.3e-05	6.824e-06	1.654e-05	0.0014	7.1e-06	5.81e-06	0.0007	0.0005	0	0	0	0	0	0.0014	4.499e-06	6.643e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.062	0.45318	T	0.321	0.33029	B	0.158	0.34617	B	0.945492	0.07622	N	1.025380	1	0.08975	N	2.34	0.67151	M	-1.16	0.78082	T	-1.53	0.37178	N	0.206	0.22870	-0.7934	0.55532	T	0.340	0.70632	T	10	0.36989832	0.53393	T	0.155783	0.83666	D	0.241	0.54641	0.556	0.67409	0.743572213059	0.74127	0.2939134396290105	0.29304	.	.	0.247187674046	0.03477	T	0.146258	0.48377	T	-0.000301122	0.51613	T	-0.238209	0.50973	T	0.129793464198696	0.15363	T	0.39686	0.10010	T	0.0955995	0.22502	0.1051233	0.25264	0.0955995	0.22502	0.1051233	0.25264	-4.191	0.26621	T	.	.	0.151	0.33319	B	.	.	1.735731	0.22091	15.48	0.91223062748748673	0.20480	0.24979	0.22560	N	AEFDBCI	0.166127	0.29268	N	-0.68107271899061	0.16561	0.8448829	-0.763056589376405	0.15402	0.8098649	0.999405404606537	0.39524	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.26	2.1	0.26226	0.728000	0.25682	5.863000	0.50453	0.654000	0.53741	0.007000	0.17678	1.000000	0.68203	0.002000	0.04165	0.0:0.1565:0.7022:0.1413	10.249	0.42536	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	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	0.001512	0.005102	0.000000	0.005882	0.000000	0.000000	0.003049	0.000000	0.08333	1375.83	35	chr20	62310913	.	G	T	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.82;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	5	0	1	0
chr20	62326876	62326876	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon39:c.G5203A:p.V1735M	.	414	1102	6	0	0	6	0.00271493	.	.	.	728780	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.104077176245	0.0067	0.00139776	0.0053	0.0015	0.0056	0	0.0048	0.0073	0.0056	0.0026	0.0052522	812	154602	rs45496002	0.0074	0.0074	0.0074	0.0073	0.0085	0.0072	0.0072	0.0084	0.0083	0.0010	0.0044	0.0041	2.522e-05	0.0054	0.0014	0.0085	0.0068	0.0025	0.0053	0.0053	0.0055	0.0052	0.0092	0.0050	0.0049	0.0086	0.0084	0.0012	0.0011	0.0036	0.0058	0.0002	0.0038	0.0034	0.0092	0.0028	0.0027	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000506	0.43753	D	0.199169	0.99998	0.54805	D	3.91	0.96185	H	0.59	0.53943	T	-2.42	0.53096	N	0.501	0.53357	-0.1358	0.79266	T	0.329	0.69724	T	10	0.014198393	0.00299	T	0.104077	0.77846	D	0.422	0.73078	.	.	0.694235987891	0.69160	0.6043040046195761	0.60361	.	.	0.574169158936	0.49266	T	0.102297	0.40989	T	-0.343552	0.05145	T	-0.254589	0.49363	T	0.108499092748908	0.13268	T	0.920508	0.71260	D	0.5291229	0.68780	0.4694742	0.69231	0.5291229	0.68781	0.4694742	0.69232	-9.666	0.71888	D	.	.	0.36	0.57211	A	.	.	3.777379	0.54290	23.5	0.99853624567196342	0.93279	0.76136	0.37319	D	AEFGBHCI	0.336084	0.43431	N	0.568632276339805	0.71221	5.618392	0.430952153302505	0.63502	4.58528	0.999973373697213	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.586000	0.36221	4.661000	0.44237	0.599000	0.40250	0.858000	0.30578	1.000000	0.68203	0.147000	0.20199	0.0:0.92:0.0:0.08	12.036	0.52718	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	962.83	35	chr20	62326876	.	C	T	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.938;DP=266;ExcessHet=0;FS=2.755;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.237;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	5	0	1	0
chr20	63316685	63316685	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon21:c.G2657A:p.R886Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0169120823863	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924995901	2.131e-06	9.577e-06	4.21e-06	0	0.0002	5.7e-07	1.6e-07	.	.	3.103e-05	0	0	0	0	0.0002	9.215e-07	0	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0001	1.716e-05	1.13e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.093	0.31532	T	0.027	0.55341	D	0.992	0.70673	D	0.644	0.60758	P	0.000298	0.46274	D	0.181464	0.700453	0.33416	D	2.215	0.62545	M	2.58	0.13434	T	-0.87	0.23590	N	0.312	0.41459	-0.9802	0.34955	T	0.067	0.27468	T	10	0.35519513	0.52286	T	0.016912	0.38384	T	0.083	0.24192	.	.	0.502815669512	0.49917	0.15250518665356508	0.15172	0.237299983296	0.26271	0.609544754028	0.54251	T	0.012793	0.11182	T	-0.155313	0.27485	T	-0.460873	0.26504	T	0.862024545669556	0.51236	D	0.842916	0.51943	T	0.05388588	0.10261	0.09203657	0.21669	0.05388588	0.10260	0.09203657	0.21669	-4.925	0.36015	T	.	.	0.105	0.20313	B	.;.	.;.	3.903359	0.56875	23.8	0.99934191611075751	0.99535	0.87073	0.46505	D	AEFDBCI	0.445356	0.50187	N	0.292828285981455	0.55786	3.742558	0.240150019124147	0.52091	3.386365	0.999883077966151	0.44867	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	3.918000	0.56144	3.138000	0.36470	-0.244000	0.07312	0.991000	0.37257	0.415000	0.24778	0.002000	0.04165	0.0:0.0:1.0:0.0	12.201	0.53633	.	.	Laminin G domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	370.83	33	chr20	63316685	.	G	A	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=207;ExcessHet=0;FS=1.631;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.255;SOR=0.333	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1162	5	0	1	0
chr20	63529579	63529579	C	T	exonic	PTK6	.	nonsynonymous SNV	PTK6:NM_005975:exon8:c.G1313A:p.R438Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	2299470	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0268214910795	.	.	7.781e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs761742593	1.194e-05	1.436e-05	6.956e-06	1.703e-05	6.123e-05	7.28e-06	5.95e-06	1.014e-05	4.63e-06	6.123e-05	2.534e-05	0	0	0	0	1.098e-05	1.698e-05	1.231e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0.0002	0	0	0	0.0005	0	.	.	.	1.0	0.01155	T	0.082	0.24665	B	0.004	0.10090	B	0.798461	0.06755	U	1.180650	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.068	0.04072	-0.7032	0.60285	T	0.377	0.73475	T	10	0.053588837	0.05573	T	0.026821	0.49694	D	0.170	0.43303	0.549	0.66436	0.307016933798	0.30308	0.2667125756232915	0.26584	.	.	0.18622007966	0.00165	T	0.193785	0.54936	T	-0.375719	0.03314	T	-0.575748	0.14927	T	0.0172320418059826	0.00465	T	0.433057	0.11799	T	0.13972408	0.32265	0.08435183	0.19397	0.13972408	0.32264	0.08435183	0.19397	-2.885	0.08994	T	.	.	0.076	0.05845	B	.	.	0.592812	0.09614	6.386	0.48895257346515147	0.04118	0.03132	0.08084	N	AEFDGBCI	0.030355	0.03037	N	-1.41355371337105	0.02519	0.1113456	-1.38112468535294	0.03453	0.1611097	0.0248709224447082	0.13609	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.7	1.16	0.19936	0.322000	0.19323	-2.104000	0.04207	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4241:0.259:0.0:0.3169	2.247	0.03786	.	.	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.83	33	chr20	63529579	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=214;ExcessHet=0;FS=4.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.271;SOR=1.579	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1070	5	0	1	0
chr20	63541342	63541344	GTC	-	exonic	SRMS	.	nonframeshift deletion	SRMS:NM_080823:exon7:c.1132_1134del:p.D378del	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0012	0.0004	0.0005	0.0042	0	0.0002	0.0013	0.0079	0.000461	12	26028	rs373947266	0.0006	0.0006	0.0004	0.0009	0.0069	0.0006	0.0006	0.0064	0.0062	0.0007	0.0001	4.65e-05	0.0042	0	0.0022	6.119e-05	0.0013	0.0069	0.0006	0.0006	0.0005	0.0008	0.0075	0.0005	0.0005	0.0055	0.0049	0.0006	0	0.0003	0	0.0035	0	0	0.0001	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	2239.79	39	chr20	63541341	.	TGTC	T	2239.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.698;DP=317;ExcessHet=0;FS=4.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-0.495;SOR=0.509	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1565	5	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L,RTEL1:NM_001283009:exon30:c.C2975T:p.P992L,RTEL1:NM_016434:exon30:c.C2975T:p.P992L,RTEL1:NM_032957:exon30:c.C3047T:p.P1016L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	435	1059	27	1	0	29	0.0135072	.	.	.	430403	not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.015152	0.016304	0.008772	0.050000	0.000000	0.003049	0.007634	0.08333	841.83	39	chr20	63693266	.	C	T	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.61;DP=247;ExcessHet=0;FS=8.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=1.68;SOR=0.153	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	5	0	1	0
chr20	63696796	63696796	C	T	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon1:c.C29T:p.S10L	.	.	.	.	.	.	.	.	.	.	.	1397879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00430656416418	.	0.000199681	1.326e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs532783203	1.722e-05	1.71e-05	2.464e-05	9.7e-06	8.995e-05	1.182e-05	9.99e-06	2.383e-05	1.26e-05	8.995e-05	0	0	5.058e-05	0	0	1.715e-05	1.67e-05	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.193	0.20912	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999996	0.08975	N	-0.205	0.04094	N	-0.43	0.69657	T	0.86	0.01712	N	0.126	0.11912	-1.0465	0.15389	T	0.091	0.34928	T	9	0.037451506	0.02100	T	0.004307	0.10467	T	0.062	0.17934	0.421	0.46365	0.330069100803	0.32608	0.5333946621762812	0.53264	0.0135471229173	0.01303	0.596802294254	0.52453	T	0.086904	0.37825	T	-0.22778	0.16943	T	-0.564967	0.15914	T	0.0286764129604986	0.01787	T	0.491951	0.15143	T	0.029355297	0.02416	0.04856538	0.07240	0.029355297	0.02416	0.04856538	0.07240	-1.756	0.02381	T	.	.	0.106	0.19720	B	.	.	-0.050260	0.03947	0.882	0.76841174183142891	0.11631	0.77018	0.37823	D	ALL	0.024388	0.01504	N	-1.90667961296007	0.00333	0.01428863	-1.96614624236022	0.00360	0.01592007	0.999999993099023	0.74766	0.652421	0.48094	0	0.611049	0.52481	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	1.85	-3.16	0.04897	-1.387000	0.02641	-2.979000	0.03172	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1235:0.4939:0.0:0.3825	6.189	0.19730	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	976.83	34	chr20	63696796	.	C	T	976.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.799;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.849;SOR=0.619	GT:AD:DP:GQ:PL	0/1:24,35:59:99:987,0,591	5	0	1	0
chr20	63696852	63696852	G	A	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon1:c.G85A:p.G29R	.	.	.	.	.	.	.	.	.	.	.	1623984	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.056	.	.	0.00219649	0.0012	0	0.0002	0.0129	0	0.0002	0.0029	0.0003	0.0008667	134	154602	rs61760055	0.0004	0.0004	0.0004	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	2.99e-05	6.726e-05	0	0.0071	1.927e-05	0.0002	0.0001	0.0005	0.0005	0.0006	0.0006	0.0006	0.0006	0.0133	0.0005	0.0004	0.0108	0.0099	2.405e-05	0	0.0002	0	0.0133	0	0.0034	0.0001	0.0005	0.0006	0.073	0.34800	T	0.005	0.72224	D	0.059	0.23051	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.965	0.53209	M	-0.55	0.71068	T	-1.0	0.26422	N	0.205	0.22742	-0.7953	0.55421	T	0.449	0.78401	T	9	0.0046648383	0.00098	T	.	.	.	0.056	0.15993	0.505	0.59924	0.563468811869	0.56009	0.4916093362435752	0.49081	0.0140552720616	0.01340	0.495234906673	0.38165	T	0.096083	0.39753	T	-0.541643	0.00328	T	-0.535214	0.18769	T	0.0134399899354233	0.00244	T	0.525647	0.17278	T	0.05669129	0.11188	0.06849717	0.14310	0.05669129	0.11187	0.06849717	0.14310	-5.848	0.44990	T	.	.	0.188	0.40506	B	.	.	1.172000	0.15615	11.98	0.91455222112812518	0.20725	0.89070	0.49319	D	ALL	0.083924	0.17006	N	-0.697093964902933	0.16104	0.8175596	-0.898140154076701	0.12138	0.6226321	0.999999718630624	0.74766	0.652421	0.48094	0	0.611049	0.52481	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.23	0.073	0.13699	0.306000	0.19030	-0.197000	0.10982	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3288:0.0:0.296:0.3752	2.791	0.05057	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.000508	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1407.83	95	chr20	63696852	.	G	A	1407.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.206;SOR=0.634	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	0	1	0
chr20	64208100	64208102	GAG	-	exonic	MYT1	.	nonframeshift deletion	MYT1:NM_004535:exon7:c.904_906del:p.E306del	.	390	1116	16	0	0	16	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	.	0.0023	0.0008	0.0031	0.0001	0	0.0030	0.0036	0.0019	0.00073	19	26028	rs147483668	0.0021	0.0024	0.0020	0.0022	0.0258	0.0020	0.0020	0.0224	0.0211	0.0011	0.0040	0.0311	5.043e-05	3.79e-05	0.0258	0.0014	0.0042	0.0018	0.0025	0.0025	0.0024	0.0026	0.0066	0.0023	0.0022	0.0055	0.0051	0.0006	0.0077	0.0066	0.0254	0	9.54e-05	0.0172	0.0019	0.0062	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189080	0.479167	0.087193	0.131579	0.100000	0.172414	0.207317	0.132576	0.08333	3423.79	156	chr20	64208099	.	AGAG	A	3423.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.694;DP=371;ExcessHet=0;FS=7.806;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.95;ReadPosRankSum=-0.805;SOR=1.292	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	5	0	1	0
chr21	5121005	5121005	G	A	exonic	GATD3A	.	nonsynonymous SNV	GATD3A:NM_001320384:exon6:c.C628T:p.R210C	.	502	1008	10	2	0	14	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1280594840	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0003	0.0055	0.0052	0	0	0	0.0002	0	0.0006	3.713e-05	0.0005	0.0064	0.0002	0.0002	0.0001	0.0002	0.0080	0.0001	8.743e-05	0.0046	0.0036	0	0	0.0001	0	0	0	0	2.148e-05	0	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2346.04	42	chr21	5121005	.	G	A	2346.04	.	AC=2;AF=0.167;AN=12;DP=257;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=35.89;QD=30.87;SOR=2.242	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	5	1	0	0
chr21	7819594	7819594	G	A	exonic	KCNE1B	.	nonsynonymous SNV	KCNE1B:NM_001330065:exon3:c.C38T:p.T13M,KCNE1B:NM_001369869:exon3:c.C38T:p.T13M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175643011	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	0.0001	0.0031	0.0025	4.661e-05	0	0	0.0002	0	0.0048	0.0002	5.36e-05	3.566e-05	1.893e-05	4.432e-05	0	3.995e-05	0.0001	3.14e-06	1.18e-06	.	.	0	0	0.0001	0	0	0	0	0	0.0007	0	.	.	.	0.237	0.24621	T	.	.	.	.	.	.	0.263283	0.03723	N	1.520460	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.079	0.08786	-0.5777	0.65708	T	0.396	0.74844	T	10	0.06710556	0.09302	T	0.074962	0.72171	D	.	.	.	.	0.0806252709748	0.07271	0.23612235707339407	0.23527	.	.	0.249600023031	0.03725	T	0.004157	0.03571	T	-0.289157	0.09720	T	-0.296753	0.45066	T	0.00860703531440309	0.00105	T	0.512749	0.16428	T	0.014688223	0.00103	0.028269313	0.01048	0.014688223	0.00103	0.028269313	0.01048	-4.91	0.35847	T	.	.	0.064	0.02861	B	.;.;.;.	.;.;.;.	-0.208455	0.03048	0.470	0.73931888924860811	0.10508	0.01148	0.04154	N	AEFDBI	.	.	.	-1.83426464048498	0.00467	0.02007908	-1.91322505167736	0.00461	0.02040418	0.999868071151714	0.44398	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.82	-9.65	0.00450	-0.884000	0.04273	-0.628000	0.08139	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.5941:0.1309:0.1386:0.1364	4.835	0.12821	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1220.1	39	chr21	7819594	.	G	A	1220.1	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.332;DP=221;ExcessHet=0;FS=15.12;MLEAC=2;MLEAF=0.167;MQ=36.74;MQRankSum=1.71;QD=25.42;ReadPosRankSum=-0.616;SOR=0.9	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	1	0	0
chr21	10596045	10596045	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon15:c.C820T:p.R274W,TPTE:NM_199260:exon18:c.C1120T:p.R374W,TPTE:NM_199259:exon19:c.C1180T:p.R394W,TPTE:NM_199261:exon20:c.C1234T:p.R412W	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs143510517	0.0001	0.0007	0.0001	8.673e-05	0.0034	9.414e-05	8.895e-05	0.0029	0.0027	0.0034	0.0002	0	0	1.872e-05	0.0003	1.349e-05	0.0002	8.124e-05	0.0037	0.0070	0.0040	0.0034	0.0126	0.0034	0.0033	0.0117	0.0113	0.0126	0	0.0022	0	0.0002	0	0	8.818e-05	0.0014	0.0004	.	.	.	0.007	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.39760	.	.	.	.	.	.	.	0.015973508	0.00336	T	.	.	.	.	.	.	.	.	.	0.8976669884590193	0.89737	.	.	.	.	.	0.657511	0.89681	D	.	.	.	.	.	.	.	.	.	0.971903	0.90184	D	.	.	.	.	.	.	.	.	-11.634	0.83023	D	.	.	0.219	0.47784	B	.;.;.;.	.;.;.;.	2.432090	0.31291	18.70	.	.	.	.	.	.	0.060152	0.11412	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.241000	0.32346	1.930000	0.29765	-0.779000	0.03363	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	203.83	71	chr21	10596045	.	C	T	203.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.411;DP=570;ExcessHet=0;FS=2.401;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.676;SOR=0.602	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	2358.83	38	chr21	13610400	.	A	G	2358.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.064;DP=410;ExcessHet=0;FS=1.618;MLEAC=1;MLEAF=0.083;MQ=57.57;MQRankSum=-0.834;QD=10.39;ReadPosRankSum=0.381;SOR=0.564	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1198	5	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11917.9	38	chr21	13610565	.	G	A	11917.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.59;DP=831;ExcessHet=0.1336;FS=1.126;MLEAC=4;MLEAF=0.333;MQ=54.23;MQRankSum=-8.187;QD=17.03;ReadPosRankSum=1.01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:126,123:249:99:3143,0,3011	3	1	2	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.3333	8563.94	38	chr21	13610631	.	A	G	8563.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.751;DP=725;ExcessHet=0.1336;FS=1.118;MLEAC=4;MLEAF=0.333;MQ=50.06;MQRankSum=-12.91;QD=14.42;ReadPosRankSum=1.09;SOR=0.811	GT:AD:DP:GQ:PL	0/1:126,89:215:99:2091,0,3260	3	1	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	4425.94	38	chr21	13641414	.	A	G	4425.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.306;DP=378;ExcessHet=0.1336;FS=4.391;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-0.838;QD=16.7;ReadPosRankSum=0.697;SOR=0.485	GT:AD:DP:GQ:PL	0/1:50,37:87:99:767,0,1308	3	1	2	0
chr21	14643004	14643004	C	T	exonic	LOC388813	.	nonsynonymous SNV	LOC388813:NM_001256579:exon1:c.G70A:p.V24M	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00175089071758	.	0.00279553	0.0036	0.0033	0	0	0.0012	0.0062	0	0.0027	0.0017335	268	154602	rs149223740	0.0066	0.0059	0.0067	0.0065	0.0090	0.0064	0.0063	0.0087	0.0086	0.0030	0.0058	0.0030	0.0002	0.0019	0.0079	0.0090	0.0075	0.0032	0.0063	0.0063	0.0065	0.0061	0.0095	0.0060	0.0058	0.0089	0.0087	0.0035	0	0.0071	0.0020	0.0004	0.0013	0.0136	0.0095	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0206	0.23519	T	0.025	0.10509	T	6	0.008035332	0.00182	T	0.001751	0.02960	T	.	.	.	.	.	.	.	.	.	.	0.215360105038	0.01059	T	.	.	.	-0.646999	0.00075	T	-0.692751	0.06231	T	0.00160834843911263	0.00016	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16626	B	.	.	-0.340433	0.02445	0.279	0.29110385859559285	0.01528	0.00345	0.01785	N	AEFBI	0.027808	0.02338	N	-0.806131300588514	0.13153	0.6459952	-0.98692861124557	0.10078	0.505361	4.82889593819539E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-3.21	0.04823	-0.877000	0.04305	-3.100000	0.03061	-1.738000	0.00705	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.151:0.4624:0.0:0.3867	5.757	0.17447	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	.	.	.	.	.	.	.	.	0.1667	1270.04	43	chr21	14643004	.	C	T	1270.04	.	AC=2;AF=0.167;AN=12;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.54;SOR=1.312	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,1002	5	1	0	0
chr21	21286341	21286341	G	T	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.G410T:p.R137L,NCAM2:NM_001352593:exon4:c.G410T:p.R137L,NCAM2:NM_001352594:exon4:c.G410T:p.R137L,NCAM2:NM_001352596:exon4:c.G410T:p.R137L,NCAM2:NM_004540:exon4:c.G410T:p.R137L,NCAM2:NM_001352592:exon5:c.G485T:p.R162L,NCAM2:NM_001352597:exon5:c.G485T:p.R162L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0263868089271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs188667430	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.08	0.43159	T	0.003	0.11197	B	0.005	0.11217	B	0.000334	0.45700	D	0.225070	0.938739	0.81001	D	0.835	0.21042	L	-0.3	0.67874	T	-2.95	0.61580	D	0.337	0.37820	-0.7394	0.58483	T	0.169	0.50955	T	10	0.29810888	0.47369	T	0.026387	0.49300	D	0.179	0.44899	0.657	0.79482	0.357212565759	0.35331	0.5291363140443647	0.52837	0.0860089005094	0.09718	0.406890690327	0.26026	T	0.36491	0.73041	T	-0.0847041	0.38946	T	-0.359448	0.38116	T	0.971363186836243	0.69290	D	0.878412	0.59357	D	0.4304281	0.62780	0.32769522	0.58666	0.4304281	0.62781	0.32769522	0.58665	-6.676	0.51629	T	.	.	0.249	0.49431	B	.;.	.;.	3.660423	0.51996	23.2	0.99414368558202293	0.63453	0.89290	0.49665	D	AEFBI	0.457871	0.50913	N	-0.103462923624734	0.37242	2.16389	0.0796313609377966	0.43527	2.652513	0.0380441021979097	0.14328	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.28	4.2	0.48814	1.921000	0.39665	4.390000	0.43210	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.965000	0.52897	0.0929:0.0:0.7503:0.1568	8.501	0.32319	999	0.00169	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	654.83	33	chr21	21286341	.	G	T	654.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.299;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.03;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	5	0	1	0
chr21	28944479	28944479	T	C	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon21:c.A3844G:p.I1282V,LTN1:NM_015565:exon22:c.A3886G:p.I1296V	.	.	.	.	.	.	.	.	.	.	.	2240981	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00119698827222	7.7e-05	.	8.258e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs368300991	1.3e-05	1.3e-05	8.168e-06	1.788e-05	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	1.656e-05	0	1.313e-05	1.312e-05	0	2.686e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0	0.852	0.02906	T	0.917	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.188294	0.03232	N	1.575890	1	0.08975	N	-0.06	0.04898	N	2.28	0.17431	T	-0.06	0.07882	N	0.057	0.03726	-0.9939	0.31591	T	0.021	0.08639	T	10	0.03488323	0.01713	T	0.001197	0.01558	T	0.064	0.18567	.	.	0.128874641272	0.12493	0.06794293768058818	0.06732	0.200544423439	0.22454	0.240759044886	0.02859	T	0.063071	0.32081	T	-0.468837	0.00864	T	-0.847583	0.00991	T	0.0121061794291428	0.00193	T	0.381062	0.09207	T	0.011951523	0.00025	0.02227235	0.00256	0.011951523	0.00025	0.02227235	0.00256	-3.22	0.12726	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	-1.144741	0.00589	0.015	0.54248627835461727	0.05100	0.05554	0.11450	N	AEFDGBIJ	0.058248	0.10915	N	-1.98780280091481	0.00225	0.009629572	-2.00632443167464	0.00297	0.01311823	0.999999980282052	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.12	-6.2	0.01894	-0.405000	0.07258	-2.437000	0.03755	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0:0.509:0.0:0.491	15.306	0.73695	973	0.05605	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	837.83	33	chr21	28944479	.	T	C	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=246;ExcessHet=0;FS=3.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.115;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	5	0	1	0
chr21	30166355	30166355	A	G	exonic	CLDN17	.	nonsynonymous SNV	CLDN17:NM_012131:exon1:c.T263C:p.V88A	.	.	.	.	.	.	.	.	.	.	.	3306600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0778582493147	0.0003	.	8.245e-05	9.621e-05	0	0	0	0.0001	0.0011	6.056e-05	7.12e-05	11	154602	rs373800539	8.14e-05	8.14e-05	8.304e-05	7.976e-05	9.982e-05	6.935e-05	6.486e-05	8.395e-05	7.891e-05	0	2.236e-05	0	0	0	0	9.982e-05	3.312e-05	5.797e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.133	0.26409	T	0.082	0.41573	T	0.006	0.13644	B	0.02	0.19048	B	0.000074	0.52346	D	0.128836	1	0.08975	N	1.23	0.30720	L	-2.65	0.90210	D	-2.56	0.55339	D	0.114	0.10198	-0.2910	0.75238	T	0.575	0.84639	D	10	0.16048715	0.30127	T	0.077858	0.72870	D	0.210	0.50028	.	.	0.742283290031	0.73996	0.35975965468635324	0.35889	0.0308517615047	0.03197	0.357250124216	0.18985	T	0.480983	0.80974	T	-0.0342359	0.46799	T	-0.286954	0.46087	T	0.561798930168152	0.34922	D	0.481052	0.14533	T	0.24139524	0.47054	0.26645967	0.52491	0.24139524	0.47054	0.26645967	0.52490	-6.107	0.47166	T	.	.	0.102	0.18122	B	.	.	1.618020	0.20668	14.86	0.9611176046466603	0.28745	0.13126	0.17678	N	AEFBI	0.106843	0.21305	N	-0.578720803355298	0.19591	1.026593	-0.560741923330195	0.20521	1.105972	0.916634827471485	0.26518	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	2.7	0.31007	2.908000	0.48448	1.832000	0.29123	0.756000	0.94297	0.016000	0.19238	0.000000	0.08366	0.968000	0.53726	0.7295:0.1892:0.0813:0.0	7.800	0.28334	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1413.83	116	chr21	30166355	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=288;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.516;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1212	5	0	1	0
chr21	32314646	32314646	C	T	exonic	MRAP	.	nonsynonymous SNV	MRAP:NM_206898:exon5:c.C302T:p.A101V	Glucocorticoid deficiency 2, Autosomal recessive	1	1459	60	2	0	64	0.0214621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0008	0.00259585	0.0045	0.0003	0.0053	0	0.0003	0.0026	0.0077	0.0179	0.0040103	620	154602	rs140113354	0.0029	0.0029	0.0023	0.0034	0.0182	0.0028	0.0028	0.0166	0.0164	0.0002	0.0029	0.0047	2.519e-05	0.0004	0.0182	0.0019	0.0034	0.0174	0.0018	0.0018	0.0017	0.0019	0.0135	0.0016	0.0015	0.0109	0.0099	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0135	0.0	0.91255	D	0.606	0.07791	T	0.259	0.31472	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	-2.28	0.87512	D	-0.85	0.23156	N	0.107	0.09207	-0.5881	0.65296	T	0.406	0.75579	T	8	0.0033186674	0.00057	T	.	.	.	0.074	0.21613	.	.	0.68305478711	0.68035	.	.	.	.	.	.	.	.	.	.	-0.414334	0.01861	T	-0.353658	0.38785	T	0.0168495364615181	0.00438	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.103	0.18622	B	.	.	0.334611	0.07086	3.655	0.47159206942495985	0.03834	0.02825	0.07564	N	AEFDBI	0.029273	0.02734	N	-0.966890229928245	0.09318	0.4404703	-1.08494191079485	0.07996	0.3912705	0.955570176257896	0.28197	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	2.81	0.89	0.18352	-0.665000	0.05386	-1.620000	0.05046	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5902:0.2624:0.1474	4.015	0.09128	928	0.17405	.	.	.	.	.	.	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	0.013458	0.005051	0.009511	0.003472	0.000000	0.034483	0.015244	0.045455	0.08333	963.83	37	chr21	32314646	.	C	T	963.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.201;DP=269;ExcessHet=0;FS=2.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.493;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	5	0	1	0
chr21	32363296	32363296	A	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon11:c.T1369A:p.S457T	.	431	1045	45	1	0	47	0.0219934	.	.	.	728857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0013	0.00279553	0.0090	0.0005	0.0049	0	0.0006	0.0026	0.0083	0.0211	0.0017141	265	154602	rs148292685	0.0028	0.0027	0.0023	0.0033	0.0188	0.0027	0.0027	0.0173	0.0170	0.0002	0.0023	0.0046	0	0.0003	0.0188	0.0018	0.0034	0.0181	0.0018	0.0018	0.0017	0.0019	0.0158	0.0017	0.0016	0.0129	0.0119	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0158	0.097	0.30943	T	0.0	0.92824	D	0.639	0.40375	P	0.122	0.32387	B	0.000169	0.48594	D	0.142475	0.991012	0.41288	D	1.655	0.42436	L	0.9	0.45248	T	-1.25	0.31576	N	0.441	0.47949	-1.0521	0.13818	T	0.087	0.33606	T	10	0.009563148	0.00215	T	.	.	.	0.093	0.26882	.	.	0.251639045875	0.24756	0.45412995113789095	0.45330	.	.	0.485400110483	0.36802	T	0.007222	0.06635	T	-0.498359	0.00584	T	-0.473039	0.25191	T	0.0195881834834753	0.00662	T	0.570043	0.20293	T	0.043129303	0.06666	0.06393683	0.12740	0.043129303	0.06665	0.06393683	0.12740	-3.765	0.20282	T	.	.	0.088	0.11701	B	.	.	2.918152	0.38732	20.8	0.96721356231228084	0.30851	0.93408	0.58137	D	AEFBI	0.135822	0.25629	N	0.00294503760619186	0.41990	2.521621	0.0258237115526748	0.40916	2.449694	0.998509834216329	0.37090	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	2.65	0.30588	3.666000	0.54277	3.057000	0.36144	-0.042000	0.17409	0.997000	0.40164	0.975000	0.29991	0.425000	0.27339	0.7241:0.1411:0.0:0.1348	8.033	0.29634	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	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	0.013614	0.005263	0.008621	0.008850	0.000000	0.045455	0.023256	0.048780	0.08333	900.83	36	chr21	32363296	.	A	T	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.463;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1391	5	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.25	3014.03	105	chr21	33252732	.	C	G	3014.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.43;DP=378;ExcessHet=1.383;FS=3.376;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.731;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1190	3	0	3	0
chr21	34792300	34792300	-	GGGGGGGGGGGGGGGGG	exonic	RUNX1	.	frameshift insertion	RUNX1:NM_001001890:exon6:c.1196_1197insCCCCCCCCCCCCCCCCC:p.R400Pfs*173,RUNX1:NM_001754:exon9:c.1277_1278insCCCCCCCCCCCCCCCCC:p.R427Pfs*173	Leukemia, acute myeloid, Autosomal dominant;Platelet disorder, familial, with associated myeloid malignancy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	43.9	9	chr21	34792300	.	C	CGGGGGGGGGGGGGGGGG	43.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=106;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=1.61;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:25:.:.:0,25,490:.	5	0	1	0
chr21	36036228	36036228	T	A	exonic	SETD4	.	nonsynonymous SNV	SETD4:NM_017438:exon11:c.A1212T:p.K404N,SETD4:NM_001286752:exon12:c.A1140T:p.K380N	.	434	1080	8	0	0	8	0.00369004	.	.	.	2824725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00472244581875	0.0037	0.00179712	0.0028	0.0010	0.0041	0	0	0.0040	0.0011	0.0006	0.0028201	436	154602	rs140814445	0.0039	0.0039	0.0040	0.0038	0.0047	0.0039	0.0038	0.0046	0.0045	0.0012	0.0043	0.0004	0	0.0002	0.0045	0.0047	0.0036	0.0004	0.0027	0.0027	0.0028	0.0026	0.0045	0.0025	0.0024	0.0041	0.0039	0.0012	0	0.0029	0.0003	0.0002	0.0002	0	0.0045	0.0024	0.0004	0.397	0.10588	T	0.45	0.12957	T	0.001	0.07471	B	0.004	0.10090	B	0.305530	0.14523	N	0.695598	1	0.08975	N	1.65	0.42232	L	2.21	0.18414	T	-0.35	0.12847	N	0.053	0.11054	-0.9854	0.33735	T	0.013	0.05177	T	10	0.0030344427	0.00050	T	0.004722	0.11753	T	0.015	0.02232	0.407	0.44066	0.171388866994	0.16791	0.11538065356393133	0.11466	0.221083113233	0.24657	0.281364500523	0.07683	T	0.009621	0.08746	T	-0.662603	0.00061	T	-0.724019	0.04604	T	0.00650356942661854	0.00073	T	0.514149	0.16548	T	0.035651933	0.04236	0.03600513	0.02962	0.035651933	0.04236	0.03600513	0.02962	-3.628	0.18263	T	.	.	0.110	0.22680	B	.;.;.	.;.;.	-0.390860	0.02246	0.230	0.80167102040219962	0.13076	0.08294	0.14242	N	AEBI	0.067516	0.13277	N	-1.13734566620279	0.05990	0.2746056	-1.14395937932395	0.06877	0.3325366	0.752541271268821	0.23383	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.63	-0.897	0.10018	-2.158000	0.01367	-1.368000	0.05605	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.738000	0.35369	0.2482:0.1434:0.2565:0.3519	0.493	0.00529	903	0.23940	Rubisco LSMT, substrate-binding domain;.;Rubisco LSMT, substrate-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	367.83	37	chr21	36036228	.	T	A	367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.447;DP=166;ExcessHet=0;FS=3.231;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.414;SOR=0.268	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	5	0	1	0
chr21	36135483	36135483	T	-	splicing	CBR3	NM_001236:exon1:c.289+2T>-	.	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	877.79	37	chr21	36135482	.	GT	G	877.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=259;ExcessHet=0;FS=2.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=2.68;SOR=1.179	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	5	0	1	0
chr21	36232966	36232966	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon15:c.A2513G:p.Y838C,DOP1B:NM_005128:exon15:c.A2513G:p.Y838C	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00279553	0.0060	0.0009	0.0016	0	0.0224	0.0068	0.0088	0.0056	0.0057502	889	154602	rs142303619	0.0069	0.0069	0.0068	0.0070	0.0071	0.0068	0.0067	0.0070	0.0069	0.0009	0.0016	0.0020	0.0002	0.0204	0.0033	0.0071	0.0057	0.0060	0.0055	0.0055	0.0052	0.0058	0.0068	0.0052	0.0051	0.0063	0.0061	0.0012	0	0.0015	0.0029	0.0002	0.0238	0.0034	0.0068	0.0043	0.0056	0.146	0.25055	T	0.149	0.32568	T	0.998	0.73220	D	0.8	0.58175	P	0.009052	0.30540	N	0.380726	0.999998	0.08975	N	2.095	0.58118	M	-0.34	0.68474	T	-3.73	0.70920	D	0.408	0.44857	-0.7939	0.55502	T	0.248	0.61704	T	10	0.009080589	0.00205	T	.	.	.	0.221	0.51721	.	.	0.669206346033	0.66641	0.273427910411048	0.27255	0.233840886749	0.25922	0.475781321526	0.35477	T	0.082101	0.36751	T	-0.319322	0.06954	T	-0.225204	0.52235	T	0.0400255426204343	0.03695	T	0.915108	0.69728	D	0.1423712	0.32767	0.17213026	0.39445	0.1423712	0.32767	0.17213026	0.39444	-4.267	0.27712	T	.	.	0.092	0.13503	B	.	.	3.201824	0.43545	21.8	0.99663967705234013	0.78138	0.76600	0.37581	D	AEFGBI	0.129320	0.24745	N	0.341811299700431	0.58308	4.002344	0.299503923595694	0.55510	3.714028	0.793447337621975	0.24055	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	3.26	0.36471	2.632000	0.46177	2.747000	0.34506	0.756000	0.94297	0.985000	0.35982	0.408000	0.24745	0.860000	0.40782	0.7359:0.1316:0.1326:0.0	7.175	0.24917	934	0.15400	.	.	.	.	.	rs142303619	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.011364	0.08333	1564.83	34	chr21	36232966	.	A	G	1564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.609;DP=292;ExcessHet=0;FS=3.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.465;SOR=0.425	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1575,0,1271	5	0	1	0
chr21	36336940	36336940	A	G	exonic	MORC3	.	nonsynonymous SNV	MORC3:NM_015358:exon3:c.A179G:p.H60R	.	.	.	.	.	.	.	.	.	.	.	3361955	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.002065692995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs915327134	6.844e-06	6.841e-06	4.086e-06	9.63e-06	0.0003	3.46e-06	2.52e-06	6.096e-05	2.522e-05	0	4.479e-05	0	0	0	0.0003	3.599e-06	1.657e-05	1.161e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.501	0.07720	T	0.453	0.12848	T	0.0	0.02946	B	0.002	0.06944	B	0.900411	0.08624	N	0.962265	1	0.08975	N	0.69	0.16971	N	1.69	0.27032	T	0.03	0.06612	N	0.073	0.04668	-0.9530	0.40450	T	0.018	0.07470	T	10	0.064940065	0.08686	T	0.002066	0.03775	T	0.075	0.21907	0.62	0.75461	0.384263066157	0.38043	0.7260771035262028	0.72551	1.24745670607	0.81720	0.313847333193	0.12489	T	0.240276	0.60857	T	-0.337002	0.05598	T	-0.721857	0.04706	T	0.022429001734932	0.00958	T	0.525947	0.17303	T	0.058958493	0.11924	0.044742033	0.05865	0.058958493	0.11923	0.044742033	0.05865	-3.956	0.23143	T	.	.	0.053	0.00274	B	.	.	1.139695	0.15271	11.72	0.7406537554022361	0.10557	0.17781	0.19985	N	AEFGBCI	0.069753	0.13821	N	-1.17468906142617	0.05384	0.2453486	-1.10407313954707	0.07623	0.3714771	0.999972856815907	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	-3.88	0.03927	0.696000	0.25220	0.726000	0.21050	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.5381:0.0:0.3613:0.1006	7.560	0.27012	960	0.08626	Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1480.83	33	chr21	36336940	.	A	G	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.068;DP=297;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.14;SOR=0.557	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr21	39196451	39196451	T	A	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_033656:exon41:c.A6618T:p.R2206S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.023375979072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.172	0.30241	T	0.902	0.49745	P	0.436	0.45556	B	.	.	.	.	1	0.81001	D	.	.	.	0.48	0.55945	T	-0.89	0.24026	N	0.324	0.36464	-1.0605	0.11632	T	0.099	0.36957	T	8	0.20940176	0.37301	T	0.023376	0.46338	T	0.058	0.16647	0.252	0.19067	0.729508143917	0.72711	.	.	.	.	.	.	.	.	.	.	-0.0776414	0.40099	T	-0.349303	0.39285	T	0.252537629253373	0.22986	T	0.610139	0.23115	T	.	.	.	.	.	.	.	.	-4.545	0.31473	T	.	.	0.664	0.71501	P	.	.	3.034778	0.40663	21.2	0.99629256171183112	0.75959	0.71702	0.35127	D	AEFGBI	0.166032	0.29258	N	-0.0928227624751632	0.37706	2.197624	-0.0787539625754211	0.36269	2.108621	0.999973329214493	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.53	3.08	0.34576	0.455000	0.21555	-0.138000	0.11547	0.665000	0.62972	0.821000	0.30003	0.750000	0.26544	0.995000	0.73285	0.0:0.282:0.0:0.718	8.248	0.30860	958	0.09170	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1192.83	34	chr21	39196451	.	T	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.311;DP=249;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.725;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	5	0	1	0
chr21	39413925	39413925	-	AGG	exonic	LCA5L	.	nonframeshift insertion	LCA5L:NM_001384303:exon7:c.706_707insCCT:p.L236delinsPF	.	1211	177	34	94	6	228	0.385417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs369768774	0	0.0019	0	0	.	0	0	.	.	0	.	.	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.55	1	chr21	39413925	.	A	AAGG	103.55	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.524;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=1.65;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:5:75:75,84,210	4	1	0	1
chr21	40353600	40353600	G	A	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon5:c.C799T:p.L267F,DSCAM:NM_001389:exon5:c.C799T:p.L267F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0161292728768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.091	0.40110	T	0.005	0.12996	B	0.018	0.18489	B	0.004079	0.34148	N	0.290468	0.998	0.44028	D	1.25	0.31749	L	-0.25	0.67011	T	-1.81	0.42575	N	0.159	0.16586	-0.8167	0.54140	T	0.210	0.56933	T	10	0.22403213	0.39196	T	0.016129	0.37232	T	0.065	0.18881	0.391	0.41443	0.556470843481	0.55307	0.3603589838772309	0.35949	0.851204937113	0.68538	0.414253592491	0.27045	T	0.140729	0.47542	T	-0.175297	0.24439	T	-0.489579	0.23436	T	0.523045599460602	0.33478	D	0.905509	0.67676	D	0.14469577	0.33202	0.16181885	0.37619	0.14469577	0.33202	0.16181885	0.37618	-4.825	0.34881	T	.	.	0.253	0.48817	B	.;.;.	.;.;.	3.567299	0.50221	22.9	0.99832717748074018	0.91456	0.93626	0.58734	D	AEFI	0.587096	0.58488	D	-0.284820550779313	0.29733	1.651549	-0.125537935135108	0.34363	1.975861	0.92752539646963	0.26892	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	3.37	0.37692	3.113000	0.50069	6.352000	0.55493	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1249:0.7455:0.1295	12.75	0.56679	970	0.06235	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1004.83	38	chr21	40353600	.	G	A	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=306;ExcessHet=0;FS=3.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.111;SOR=1.094	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	244.7	90	chr21	41918930	.	C	G	244.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.083;DP=380;ExcessHet=0;FS=133.627;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=1.56;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:67,6:73:51:0|1:41918930_C_G:0,51,2622:41918930	4	0	1	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	243.9	91	chr21	41918931	.	C	G	243.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.634;DP=370;ExcessHet=0;FS=134.303;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=1.76;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:67,6:73:51:0|1:41918930_C_G:0,51,2622:41918930	2	0	1	3
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	243.83	90	chr21	41918933	.	C	G	243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.77;DP=335;ExcessHet=0;FS=135.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.86;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:67,6:73:51:0|1:41918930_C_G:0,51,2622:41918930	5	0	1	0
chr21	42765490	42765490	C	T	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon9:c.C701T:p.T234I,PDE9A:NM_001001575:exon10:c.C872T:p.T291I,PDE9A:NM_001001576:exon10:c.C701T:p.T234I,PDE9A:NM_001001569:exon11:c.C968T:p.T323I,PDE9A:NM_001001572:exon11:c.C731T:p.T244I,PDE9A:NM_001001577:exon11:c.C950T:p.T317I,PDE9A:NM_001001568:exon12:c.C971T:p.T324I,PDE9A:NM_001001573:exon12:c.C731T:p.T244I,PDE9A:NM_001001578:exon12:c.C1046T:p.T349I,PDE9A:NM_001001579:exon12:c.C731T:p.T244I,PDE9A:NM_001001571:exon13:c.C1049T:p.T350I,PDE9A:NM_001001574:exon13:c.C1094T:p.T365I,PDE9A:NM_001001581:exon13:c.C1151T:p.T384I,PDE9A:NM_001001584:exon13:c.C731T:p.T244I,PDE9A:NM_001001585:exon13:c.C731T:p.T244I,PDE9A:NM_001001567:exon14:c.C1172T:p.T391I,PDE9A:NM_001001570:exon14:c.C1193T:p.T398I,PDE9A:NM_001001582:exon14:c.C1229T:p.T410I,PDE9A:NM_001001583:exon14:c.C1274T:p.T425I,PDE9A:NM_001315533:exon15:c.C1028T:p.T343I,PDE9A:NM_002606:exon15:c.C1352T:p.T451I	.	431	1089	2	0	0	2	0.000917431	.	.	.	2265188	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0518242996682	0.0002	0.000199681	0.0002	0	0	0	0	0.0002	0.0012	0.0006	0.0001423	22	154602	rs151254797	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0005	0.0004	6.102e-05	2.239e-05	0	0	1.875e-05	0.0009	9.67e-05	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.694e-05	0.0001	0.0001	9.622e-05	0	0.0003	0	0	0	0	0.0002	0	0.0002	0.058	0.41637	T	0.156	0.31833	T	0.019	0.26577	B	0.01	0.21540	B	0.039400	0.24176	N	0.456005	0.749253	0.33910	D	1.165	0.29723	L	-1.46	0.80983	T	-3.12	0.64710	D	0.286	0.32370	-0.7074	0.60080	T	0.265	0.63588	T	10	0.07613948	0.11855	T	0.051824	0.64821	D	0.233	0.53499	.	.	0.819678790864	0.81798	0.4745076944691091	0.47369	0.347432667826	0.36634	0.621842324734	0.55990	T	0.573833	0.85933	D	-0.224002	0.17449	T	-0.19424	0.55192	T	0.0768354598239424	0.09577	T	0.836416	0.53011	T	0.1457898	0.33403	0.112821415	0.27224	0.1457898	0.33403	0.112821415	0.27224	-8.337	0.67148	D	.	.	0.175	0.39596	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.073557	0.41320	21.3	0.99107171210645906	0.52623	0.61916	0.31625	D	AEFDBI	0.119595	0.23334	N	-0.36775647974955	0.26624	1.454506	-0.257618616462904	0.29509	1.653855	0.181141533913389	0.17873	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.89	2.04	0.25787	2.462000	0.44706	1.971000	0.29987	0.580000	0.29708	0.980000	0.35271	0.968000	0.29604	0.953000	0.50222	0.1607:0.6604:0.0:0.1788	5.566	0.16455	964	0.07719	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	585.83	65	chr21	42765490	.	C	T	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.177;DP=245;ExcessHet=0;FS=7.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.054;SOR=1.574	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1283	5	0	1	0
chr21	44391009	44391009	A	G	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon10:c.A1424G:p.D475G,TRPM2:NM_001320351:exon10:c.A1424G:p.D475G,TRPM2:NM_003307:exon10:c.A1424G:p.D475G	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0153836071151	.	.	4.944e-05	0	0	0	0	7.495e-05	0	6.057e-05	4.53e-05	7	154602	rs769381277	1.642e-05	1.642e-05	8.168e-06	2.475e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.295e-06	4.968e-05	0.0001	6.572e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.384	0.11050	T	0.784	0.04703	T	0.917	0.50750	P	0.445	0.45921	B	0.000001	0.62929	D	0.056585	0.999999	0.58761	D	0.495	0.13372	N	2.03	0.20959	T	-0.86	0.25770	N	0.424	0.48042	-1.0985	0.04277	T	0.043	0.18285	T	10	0.14027092	0.26664	T	0.015384	0.36078	T	0.166	0.42578	.	.	0.32053947749	0.31673	0.4203184122063365	0.41947	0.192826833889	0.21615	0.4336348176	0.29706	T	0.208543	0.56850	T	-0.139401	0.29985	T	-0.201348	0.54519	T	0.26067379117012	0.23344	T	0.790821	0.44558	T	0.43711776	0.63216	0.20203975	0.44213	0.43711776	0.63216	0.20203975	0.44212	-9.289	0.70223	D	.	.	0.149	0.33039	B	.;.;.;.	.;.;.;.	5.511209	0.91687	32	0.9871749037647769	0.45157	0.95198	0.63800	D	AEFBI	0.603599	0.59502	D	0.080864187102523	0.45570	2.81139	0.12427241160509	0.45793	2.836263	0.999996087827899	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	3.017000	0.49302	5.104000	0.47459	0.740000	0.86194	0.991000	0.37257	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.302	0.65913	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	369.83	34	chr21	44391009	.	A	G	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.723;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=0.316;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1330	5	0	1	0
chr21	44426694	44426694	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320351:exon26:c.C3830T:p.T1277M,TRPM2:NM_003307:exon26:c.C3830T:p.T1277M,TRPM2:NM_001320350:exon27:c.C3980T:p.T1327M	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.22178622072	0.0004	0.000998403	0.0006	0.0002	0.0008	0.0008	0	0.0006	0	0.0011	0.0005757	89	154602	rs113563173	0.0004	0.0004	0.0004	0.0005	0.0076	0.0004	0.0004	0.0058	0.0052	0.0005	0.0007	3.826e-05	0.0003	1.873e-05	0.0076	0.0003	0.0009	0.0011	0.0005	0.0005	0.0006	0.0003	0.0010	0.0004	0.0003	0.0005	0.0004	0.0003	0	0.0008	0	0.0008	0	0.0136	0.0004	0.0019	0.0010	0.001	0.78490	D	0.002	0.83351	D	0.999	0.90584	D	0.88	0.62516	P	0.221408	0.16129	N	0.583692	0.934479	0.37089	D	3.475	0.92503	M	-1.03	0.76430	T	-2.44	0.53420	N	0.359	0.44666	0.506	0.90630	D	0.646	0.87649	D	10	0.03946188	0.02438	T	0.221786	0.87823	D	0.390	0.70603	.	.	0.630325304681	0.62730	0.6143187277833623	0.61363	0.503798904839	0.48685	0.352053284645	0.18224	T	0.503695	0.82308	D	-0.237676	0.15646	T	-0.164622	0.57934	T	0.0869636250316591	0.10854	T	0.910309	0.69895	D	0.22072016	0.44633	0.1598154	0.37254	0.22072016	0.44633	0.1598154	0.37253	-5.309	0.40032	T	.	.	0.093	0.51865	B	.;.;.;.;.	.;.;.;.;.	4.248401	0.64464	24.7	0.99869000167390265	0.94726	0.28874	0.23671	N	AEFGBI	0.265326	0.38248	N	0.269664161013558	0.54619	3.626926	0.0773127284115919	0.43410	2.643323	0.999999997526133	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	4.46	0.53567	0.995000	0.29307	5.686000	0.49316	0.596000	0.33519	0.001000	0.13787	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	16.075	0.80770	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.020468	0.000000	0.000000	0.000000	0.000000	0.08333	1283.83	33	chr21	44426694	.	C	T	1283.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=263;ExcessHet=0;FS=1.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.439;SOR=0.961	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1294,0,901	5	0	1	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	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	0.002114	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1424.83	40	chr21	44540050	.	A	G	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.21;DP=306;ExcessHet=0;FS=2.545;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=2.22;SOR=0.979	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2818.02	35	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	2818.02	.	AC=5;AF=0.417;AN=12;DP=1123;ExcessHet=0.095;FS=2.852;MLEAC=5;MLEAF=0.417;MQ=59.79;QD=3.11;SOR=0.494	GT:AD:DP:GQ:PL	0/1:119,114:233:99:4288,0,4450	2	1	3	0
chr21	44646765	44646765	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G307A:p.V103I	.	407	1109	6	0	0	6	0.00269784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00247816193051	0.0003	0.000199681	0.0005	0	0.0003	0	0	0.0008	0.0011	0.0004	0.0004657	72	154602	rs200166608	0.0005	0.0005	0.0005	0.0005	0.0156	0.0005	0.0005	0.0130	0.0120	0.0006	0.0004	0.0029	0	1.872e-05	0.0156	0.0004	0.0008	0.0003	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0006	0.0046	0	0	0.0034	0.0004	0.0014	0.0002	0.079	0.33753	T	0.2	0.27591	T	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	5.94	0.00616	T	-0.56	0.17003	N	0.048	0.01999	-0.9564	0.39843	T	0.003	0.00994	T	9	0.0078935325	0.00179	T	0.002478	0.04925	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.031051506891314837	0.03054	0.013093534697	0.01258	0.200884759426	0.00483	T	0.003618	0.03030	T	-0.649655	0.00073	T	-0.804519	0.01792	T	0.0143806407004745	0.00289	T	0.0473953	0.00339	T	0.03253127	0.03296	0.035217997	0.02732	0.03253127	0.03296	0.035217997	0.02732	-7.347	0.56529	T	.	.	0.083	0.09143	B	.	.	-1.216269	0.00515	0.012	0.80308440679460669	0.13142	0.04212	0.09725	N	AEFBCI	0.026829	0.02083	N	-1.26862474623414	0.04059	0.182501	-1.37175714799281	0.03556	0.1661108	0.931308413205367	0.27042	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.37	-1.32	0.08721	-2.929000	0.00755	-20.000000	0.00162	-2.273000	0.00330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.208:0.4345:0.3575:0.0	6.255	0.20075	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.005051	0.014946	0.028689	0.000000	0.025862	0.003049	0.000000	0.08333	3366.83	34	chr21	44646765	.	G	A	3366.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.674;DP=590;ExcessHet=0;FS=5.147;MLEAC=1;MLEAF=0.083;MQ=59.64;MQRankSum=-0.429;QD=13.8;ReadPosRankSum=1.4;SOR=0.608	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	5	0	1	0
chr21	44666834	44666834	C	T	exonic	KRTAP12-2	.	nonsynonymous SNV	KRTAP12-2:NM_181684:exon1:c.G53A:p.S18N	.	430	1065	27	0	0	27	0.0125174	.	.	.	2821845	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00279965897282	0.0009	0.000998403	0.0015	0	0.0004	0	0	0.0012	0.0023	0.0060	0.0001153	3	26028	rs143686476	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0011	0.0082	0.0074	0.0003	0.0006	7.695e-05	2.525e-05	0	0.0102	0.0009	0.0018	0.0061	0.0008	0.0009	0.0008	0.0008	0.0044	0.0007	0.0007	0.0029	0.0025	0.0001	0	0.0008	0	0	0	0	0.0013	0.0009	0.0044	0.007	0.59928	D	0.007	0.69154	D	0.802	0.45105	P	0.267	0.39770	B	.	.	.	.	1	0.08975	N	2.6	0.76081	M	4.06	0.03063	T	-2.32	0.51478	N	0.216	0.24135	-1.0601	0.11731	T	0.021	0.09056	T	9	0.0064796507	0.00147	T	0.003	0.05840	T	0.056	0.15993	.	.	0.3085936734	0.30458	0.03833993704929642	0.03779	0.17694831345	0.19912	0.28999209404	0.08921	T	0.084317	0.37250	T	-0.651385	0.00071	T	-0.705834	0.05512	T	0.0356965933962838	0.02927	T	0.387161	0.09535	T	0.15285218	0.34677	0.12656856	0.30480	0.15285218	0.34676	0.12656856	0.30479	-8.93	0.67245	D	.	.	0.224	0.45569	B	.	.	0.839474	0.12109	8.663	0.94844240990002304	0.25637	0.06805	0.12829	N	AEFDBHCI	0.033163	0.03882	N	-0.434545504500228	0.24268	1.309094	-0.683018874357377	0.17385	0.9241925	0.104310765254257	0.16471	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.64	-0.657	0.10858	-0.514000	0.06382	-2.835000	0.03313	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2521:0.216:0.5319:0.0	7.286	0.25516	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.000000	0.009511	0.002924	0.000000	0.000000	0.021341	0.011364	0.1667	6481.06	220	chr21	44666834	.	C	T	6481.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=844;ExcessHet=0.4139;FS=1.209;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=16;ReadPosRankSum=0.084;SOR=0.603	GT:AD:DP:GQ:PL	0/1:83,102:185:99:2987,0,3139	4	0	2	0
chr21	44697215	44697215	C	G	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.C14G:p.S5C	.	.	.	.	.	.	.	.	.	.	.	2250856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0110977867845	0.0002	.	6.675e-05	0.0006	8.645e-05	0	0	0	0	6.304e-05	6.47e-05	10	154602	rs369832647	2.121e-05	2.121e-05	2.723e-05	1.513e-05	0.0007	1.52e-05	1.324e-05	0.0004	0.0004	0.0007	2.237e-05	0	0	0	0	0	0.0001	1.16e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.705e-05	0.0004	0.0003	0.0006	0	6.545e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.113	0.36901	T	0.999	0.77913	D	0.936	0.67150	D	.	.	.	.	1	0.81001	D	3.11	0.87757	M	5.67	0.00768	T	-4.78	0.80510	D	0.552	0.57775	-0.9177	0.45864	T	0.009	0.03448	T	9	0.4344787	0.57704	T	0.011098	0.28373	T	0.179	0.44899	.	.	0.0611884634855	0.05136	0.09895797887264418	0.09826	0.870668965901	0.69386	0.395628660917	0.24459	T	0.117291	0.43726	T	-0.321342	0.06788	T	-0.327098	0.41791	T	0.629143595695496	0.37582	D	0.872913	0.58047	D	0.28695932	0.51709	0.27697983	0.53647	0.28695932	0.51709	0.27697983	0.53646	-7.398	0.56890	T	.	.	0.264	0.49893	B	.	.	2.882072	0.38144	20.7	0.98861736139308976	0.47476	0.77163	0.37909	D	AEFDBI	0.113360	0.22370	N	0.196622186922074	0.51037	3.288248	0.0940648721396654	0.44250	2.71036	0.99999999427909	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	3.65	3.65	0.40985	2.480000	0.44865	1.664000	0.27916	0.464000	0.21668	0.980000	0.35271	1.000000	0.68203	0.071000	0.16709	0.0:1.0:0.0:0.0	13.156	0.58936	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2322.83	40	chr21	44697215	.	C	G	2322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=422;ExcessHet=0;FS=0.533;MLEAC=1;MLEAF=0.083;MQ=58.65;MQRankSum=0.254;QD=12.29;ReadPosRankSum=-0.955;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chr21	44787954	44787954	C	T	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91A:p.E31K,UBE2G2:NM_182688:exon4:c.G7A:p.E3K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0358219679397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.027	0.55341	D	0.973	0.57599	D	0.857	0.61067	P	0.000001	0.84330	D	0.092911	1	0.81001	D	2.78	0.81115	M	1.17	0.37910	T	-3.5	0.68178	D	0.886	0.88466	-0.6136	0.64254	T	0.228	0.59346	T	10	0.8063428	0.79969	D	0.035822	0.56599	D	0.404	0.71714	0.565	0.68633	0.754098630795	0.75187	0.8810322811501006	0.88071	1.71623382196	0.90501	0.848309695721	0.89359	D	0.20998	0.57035	T	0.275644	0.80940	D	0.158167	0.80694	D	0.988657176494598	0.78959	D	0.992201	0.97531	D	0.8746822	0.89235	0.8496859	0.91484	0.8746822	0.89236	0.8496859	0.91484	-10.558	0.77180	D	.	.	0.610	0.69280	P	.;.	.;.	4.918406	0.80991	27.4	0.99900939013768519	0.97275	0.94946	0.62882	D	AEFDBI	0.566343	0.57237	D	0.778650246571395	0.84753	8.376741	0.752805729032783	0.86364	8.866282	0.999999999792068	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.215000	0.65074	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.391	0.83373	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	108.83	34	chr21	44787954	.	C	T	108.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.95;DP=339;ExcessHet=0;FS=91.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.54;SOR=5.992	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chr21	45176258	45176258	C	T	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon3:c.C704T:p.A235V,ADARB1:NM_001112:exon4:c.C557T:p.A186V,ADARB1:NM_001160230:exon4:c.C557T:p.A186V,ADARB1:NM_001346688:exon4:c.C557T:p.A186V,ADARB1:NM_015833:exon4:c.C557T:p.A186V,ADARB1:NM_015834:exon4:c.C557T:p.A186V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647080124803	.	.	0.0001	0	8.648e-05	0.0009	0	1.5e-05	0	0.0002	8.41e-05	13	154602	rs755455385	7.456e-05	7.456e-05	5.445e-05	9.488e-05	0.0017	6.315e-05	5.873e-05	0.0013	0.0012	0	2.236e-05	0	0.0017	3.744e-05	0.0002	1.619e-05	0.0001	0.0001	5.252e-05	5.249e-05	2.57e-05	8.054e-05	0.0013	2.555e-05	1.829e-05	0.0006	0.0004	0	0	0	0	0.0013	0	0	0	0	0.0002	0.348	0.12961	T	0.381	0.16328	T	0.001	0.11197	B	0.002	0.08700	B	0.695396	0.10139	N	0.879247	1	0.28825	N	0.55	0.14455	N	1.56	0.29602	T	-0.89	0.24026	N	0.033	0.02179	-0.9962	0.30974	T	0.033	0.14377	T	10	0.016485006	0.00348	T	0.006471	0.17043	T	0.058	0.16647	0.351	0.34922	0.240615537116	0.23683	0.1523596405903224	0.15157	.	.	0.299663990736	0.10351	T	0.200229	0.55774	T	-0.612618	0.00122	T	-0.71888	0.04850	T	0.0127105239261825	0.00214	T	0.657934	0.26722	T	0.016452095	0.00199	0.03048786	0.01510	0.016452095	0.00198	0.03048786	0.01510	-3.84	0.21854	T	0.11547110348040955	0.10335	0.071	0.03736	B	.;.;.;.;.	.;.;.;.;.	0.488913	0.08582	5.349	0.97743182493524738	0.35695	0.32422	0.24581	N	AEFDGBI	0.127450	0.24482	N	-0.968889037637014	0.09273	0.4382069	-0.912272316893221	0.11804	0.6035971	0.999986729963791	0.51787	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	2.16	0.26663	1.207000	0.31938	0.143000	0.15197	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.353000	0.25727	0.0:0.6718:0.0:0.3282	7.480	0.26569	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2656.83	33	chr21	45176258	.	C	T	2656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=373;ExcessHet=0;FS=0.543;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.021;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	5	0	1	0
chr21	45176618	45176618	C	T	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon3:c.C1064T:p.S355F,ADARB1:NM_001112:exon4:c.C917T:p.S306F,ADARB1:NM_001160230:exon4:c.C917T:p.S306F,ADARB1:NM_001346688:exon4:c.C917T:p.S306F,ADARB1:NM_015833:exon4:c.C917T:p.S306F,ADARB1:NM_015834:exon4:c.C917T:p.S306F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0221000485227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27663	T	0.023	0.57104	D	0.988	0.62325	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	1.38	0.34050	T	-2.19	0.49352	N	0.678	0.70263	-0.8870	0.49189	T	0.158	0.49161	T	10	0.48538738	0.60677	T	0.022	0.44952	T	0.083	0.24192	0.245	0.17984	0.196089822672	0.19227	0.5628923419359976	0.56216	.	.	0.614057064056	0.54889	T	0.339004	0.70820	T	-0.0631402	0.42416	T	-0.328473	0.41638	T	0.951701045036316	0.63622	D	0.971103	0.89589	D	0.24025117	0.46926	0.12540475	0.30217	0.24025117	0.46926	0.12540475	0.30216	-5.668	0.43836	T	0.4161693179217331	0.50567	0.514	0.69628	A	.;.;.;.;.	.;.;.;.;.	3.743776	0.53625	23.4	0.99713018534102682	0.81493	0.95372	0.64463	D	AEFDBI	0.486447	0.52561	N	0.283688044378132	0.55321	3.69626	0.253400715581951	0.52844	3.456472	0.999998580691026	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.25	0.49658	5.699000	0.67967	5.764000	0.49701	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.9129:0.0:0.0871	11.740	0.51055	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	855.83	33	chr21	45176618	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.676;DP=260;ExcessHet=0;FS=3.425;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.188;SOR=1.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1165	5	0	1	0
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.08333	2641.83	35	chr21	45267554	.	G	A	2641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.552;SOR=0.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1343	5	0	1	0
chr21	45480826	45480826	C	T	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon12:c.C2119T:p.R707C,COL18A1:NM_130444:exon12:c.C2824T:p.R942C,COL18A1:NM_001379500:exon13:c.C1579T:p.R527C	Knobloch syndrome, type 1, Autosomal recessive	2	1519	0	1	0	2	0.000657895	.	.	.	2002421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.466	0.228344809109	.	.	9.655e-06	0	0	0	0	0	0	6.628e-05	6.5e-06	1	154602	rs771376510	4.111e-06	5.472e-06	5.454e-06	2.755e-06	2.989e-05	1.48e-06	9.7e-07	3.86e-06	1.44e-06	2.989e-05	2.241e-05	0	0	0	0	1.799e-06	0	2.322e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.022	0.48642	D	0.043	0.53426	D	0.998	0.77913	D	0.738	0.61869	P	0.116357	0.19197	N	0.505114	0.991073	0.24085	N	2.92	0.84325	M	-3.24	0.96957	D	-4.58	0.81755	D	0.474	0.51048	0.579	0.91626	D	0.901	0.96711	D	10	0.74888885	0.75490	D	0.228345	0.88134	D	0.466	0.76156	0.643	0.78010	0.947642779615	0.94709	0.38027983182702546	0.37942	0.38608239833	0.39902	0.498706668615	0.38647	T	0.666627	0.90058	D	0.076339	0.61610	D	-0.0274908	0.68535	D	0.982601642608643	0.74592	D	0.979102	0.92705	D	0.13445292	0.31237	0.13820554	0.33012	0.13445292	0.31237	0.13820554	0.33011	-11.718	0.85137	D	0.5981586611703074	0.66510	0.242	0.48938	B	.;.;.	.;.;.	3.251350	0.44425	21.9	0.99862017796668789	0.94002	0.09789	0.15465	N	AEFDBI	0.139713	0.26140	N	-0.145710041299024	0.35416	2.034053	-0.376658765504761	0.25694	1.414608	0.999942785767055	0.47345	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	0.596	0.16678	-0.372000	0.07559	0.509000	0.19063	0.578000	0.29377	0.000000	0.06391	0.023000	0.20922	0.445000	0.27784	0.6017:0.3983:0.0:0.0	9.980	0.40977	641	0.64016	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	647.83	35	chr21	45480826	.	C	T	647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.447;DP=192;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.111;SOR=0.739	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	5	0	1	0
chr21	45930825	45930825	A	T	exonic	PCBP3	.	nonsynonymous SNV	PCBP3:NM_001130141:exon11:c.A758T:p.N253I,PCBP3:NM_001382278:exon12:c.A833T:p.N278I,PCBP3:NM_001382279:exon12:c.A905T:p.N302I,PCBP3:NM_001382281:exon12:c.A836T:p.N279I,PCBP3:NM_020528:exon12:c.A836T:p.N279I,PCBP3:NM_001382277:exon13:c.A836T:p.N279I,PCBP3:NM_001382282:exon13:c.A836T:p.N279I,PCBP3:NM_001382287:exon13:c.A836T:p.N279I,PCBP3:NM_001348238:exon14:c.A833T:p.N278I,PCBP3:NM_001348240:exon14:c.A905T:p.N302I,PCBP3:NM_001382283:exon14:c.A836T:p.N279I,PCBP3:NM_001382285:exon14:c.A836T:p.N279I,PCBP3:NM_001382286:exon14:c.A836T:p.N279I,PCBP3:NM_001382288:exon14:c.A836T:p.N279I,PCBP3:NM_001348239:exon15:c.A902T:p.N301I,PCBP3:NM_001348241:exon15:c.A869T:p.N290I,PCBP3:NM_001382284:exon15:c.A836T:p.N279I,PCBP3:NM_001384156:exon15:c.A836T:p.N279I,PCBP3:NM_001348242:exon16:c.A740T:p.N247I,PCBP3:NM_001382276:exon16:c.A740T:p.N247I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0130807367497	.	.	1.668e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771054888	1.932e-05	1.915e-05	2.613e-05	1.247e-05	0.0001	1.34e-05	1.154e-05	6.259e-05	4.767e-05	0	0	0	0	0	0	1.544e-05	1.667e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.121	0.36509	T	0.155	0.34009	T	0.001	0.64070	B	0.001	0.79672	B	0.518773	0.05190	U	1.381620	0.545506	0.81001	D	0	0.06538	N	1.43	0.47815	T	-1.31	0.33401	N	0.808	0.82458	-0.8524	0.51802	T	0.168	0.50729	T	10	0.17196298	0.31944	T	0.013081	0.32199	T	0.154	0.40340	0.311	0.28451	0.627064281203	0.62402	0.6102373099022304	0.60955	0.559911966558	0.52530	0.845764458179	0.88974	D	0.094367	0.39401	T	-0.212333	0.19051	T	-0.306109	0.44076	T	0.179789379239082	0.19222	T	0.89791	0.66926	D	0.20100681	0.42095	0.15041748	0.35474	0.20100681	0.42095	0.15041748	0.35473	-4.941	0.37164	T	.	.	0.132	0.31100	B	.;.;.;.;.;.	.;.;.;.;.;.	3.908204	0.56977	23.8	0.98120571624157638	0.38432	0.86832	0.46200	D	AEBI	0.648405	0.62323	D	-0.100526504140842	0.37368	2.173163	0.0677398093640186	0.42938	2.60604	0.983593467419478	0.30584	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	4.598000	0.60777	6.747000	0.56500	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.714	0.50909	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	712.83	34	chr21	45930825	.	A	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.219;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.493;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	5	0	1	0
chr21	46155502	46155502	C	T	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon1:c.G22A:p.V8I,FTCD:NM_006657:exon1:c.G22A:p.V8I,FTCD:NM_206965:exon1:c.G22A:p.V8I	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1362217	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.540	0.205102397176	7.7e-05	.	4.174e-05	0	0.0002	0	0	1.527e-05	0	0.0001	3.23e-05	5	154602	rs368109014	1.985e-05	1.984e-05	2.452e-05	1.514e-05	8.961e-05	1.393e-05	1.204e-05	2.375e-05	1.258e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	1.889e-05	0	2.319e-05	3.941e-05	3.94e-05	2.568e-05	5.379e-05	0.0001	1.715e-05	1.129e-05	4.736e-05	3.052e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.039	0.54159	D	1.0	0.90584	D	1.0	0.97372	D	0.000006	0.62929	D	0.062738	1	0.81001	D	2.44	0.70756	M	-1.22	0.78752	T	-0.95	0.25332	N	0.422	0.47949	0.377	0.88753	D	0.655	0.88008	D	10	0.6359435	0.68782	D	0.205102	0.86967	D	0.540	0.80782	.	.	0.934349249237	0.93367	0.4036099885499357	0.40276	0.338721449428	0.35836	0.664568781853	0.62063	T	0.339063	0.70825	T	-0.0295116	0.47487	T	-0.0980209	0.63550	T	0.486384987831116	0.32132	T	0.950805	0.81930	D	0.59582305	0.72466	0.5860575	0.75993	0.59582305	0.72467	0.5860575	0.75994	-8.037	0.62392	D	0.41557348542969136	0.50517	0.205	0.43130	B	.;.;.;.	.;.;.;.	5.048842	0.84086	28.2	0.99843148186250918	0.92316	0.97981	0.78612	D	AEFDBHCI	0.913035	0.87448	D	0.762046020167309	0.83687	8.083103	0.714705931174994	0.83495	8.036643	1.0	0.98316	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	5.875000	0.69407	7.443000	0.58891	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.756	0.91798	982	0.03397	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;.;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	970.83	38	chr21	46155502	.	C	T	970.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.519;DP=294;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.329;SOR=1.075	GT:AD:DP:GQ:PL	0/1:38,41:79:99:981,0,954	5	0	1	0
chr21	46651989	46651989	C	T	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242865:exon7:c.C838T:p.P280S	.	401	1074	47	0	0	47	0.0214123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0023	0.0081869	0.0050	0.0008	0.0021	0.0176	0	0.0031	0.0034	0.0120	0.0045924	710	154602	rs77776707	0.0034	0.0034	0.0031	0.0037	0.0155	0.0033	0.0033	0.0145	0.0141	0.0014	0.0024	0.0023	0.0155	0.0004	0.0130	0.0025	0.0050	0.0112	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0113	0.0104	0.0006	0	0.0065	0.0020	0.0139	0.0002	0.0136	0.0028	0.0071	0.0124	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	-1.3	0.32590	N	0.239	0.26957	-0.8865	0.49231	T	0.113	0.40422	T	6	0.003940493	0.00076	T	.	.	.	0.123	0.34020	.	.	0.240615537116	0.23683	.	.	.	.	.	.	.	.	.	.	-0.5881	0.00172	T	-0.603262	0.12539	T	0.00690702641187645	0.00078	T	0.362864	0.08399	T	.	.	.	.	.	.	.	.	-3.495	0.16361	T	.	.	0.140	0.30660	B	.	.	-0.119248	0.03527	0.672	0.94500977114343654	0.24974	0.00193	0.01117	N	AEFBI	0.019751	0.00715	N	-1.28976852687427	0.03797	0.1702898	-1.53768445602067	0.02061	0.09427351	0.935577632894049	0.27219	0.632932	0.41330	0	0.379588	0.06130	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	0.852	-1.7	0.07721	-0.359000	0.07683	-0.314000	0.10017	-0.600000	0.04616	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.6399:0.0:0.3601	6.415	0.20912	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006736	0.005051	0.013587	0.003497	0.000000	0.008621	0.003049	0.011364	0.08333	988.83	88	chr21	46651989	.	C	T	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.852;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.19;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	5	0	1	0
chr22	15528177	15528177	C	T	exonic	OR11H1	.	stopgain	OR11H1:NM_001005239:exon1:c.C19T:p.Q7X	.	583	912	27	0	0	27	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00645928117026	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780256539	0.0007	0.0008	0.0005	0.0009	0.0069	0.0007	0.0007	0.0064	0.0063	0	0.0005	0.0009	0	7.51e-05	0.0063	0.0003	0.0009	0.0069	0.0005	0.0006	0.0003	0.0006	0.0058	0.0004	0.0003	0.0042	0.0036	4.839e-05	0	0.0006	0.0009	0	0	0.0034	0.0004	0.0010	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187006	0.72688	D	0.0308443	0.72333	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411623	0.07823	4.519	0.9869240347668039	0.44780	0.00479	0.02286	N	AEFI	0.014797	0.00251	N	-0.215373037917847	0.32502	1.833708	-0.68381680427237	0.17365	0.9230271	1.11926246149775E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.816000	0.04583	.	.	0.200000	0.17917	0.000000	0.06391	0.099000	0.22647	0.036000	0.13842	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	262.83	36	chr22	15528177	.	C	T	262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.897;DP=289;ExcessHet=0;FS=9.053;MLEAC=1;MLEAF=0.083;MQ=36.13;MQRankSum=0.179;QD=2.41;ReadPosRankSum=0.833;SOR=0.073	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	5	0	1	0
chr22	15528351	15528351	T	C	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.T193C:p.W65R	.	537	975	10	0	0	10	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0297161768361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149999478	0.0009	0.0020	0.0010	0.0009	0.0078	0.0009	0.0009	0.0070	0.0067	0.0078	0.0019	0.0026	0	0.0002	0.0046	0.0007	0.0020	0.0002	0.0033	0.0053	0.0034	0.0031	0.0091	0.0030	0.0029	0.0083	0.0080	0.0091	0	0.0025	0.0014	0	0.0005	0.0103	0.0010	0.0014	0	0.568	0.06223	T	0.373	0.16328	T	.	.	.	.	.	.	0.741201	0.06429	N	1.171190	.	.	.	.	.	.	3.8	0.03781	T	0.05	0.06369	N	0.086	0.06322	-0.9305	0.44066	T	0.005	0.01725	T	9	0.0111835	0.00246	T	0.003987	0.09462	T	.	.	0.376	0.38994	0.123314135267	0.11883	0.17031545831944409	0.16951	.	.	0.285326629877	0.08246	T	0.00142	0.00883	T	-0.344233	0.05100	T	-0.732244	0.04226	T	0.0419040925484779	0.04037	T	0.0630937	0.00459	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.135	0.31125	B	.;.	.;.	0.876995	0.12500	9.031	0.33756861390606369	0.02028	0.00246	0.01361	N	AEFI	0.018295	0.00544	N	-1.51919454913134	0.01723	0.0754404	-1.54558912379224	0.02006	0.09167587	1.17806289158194E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.996000	0.01560	.	.	0.374000	0.20344	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	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	.	.	.	.	.	.	.	.	0.08333	516.83	87	chr22	15528351	.	T	C	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=741;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.77;MQRankSum=-2.412;QD=1.39;ReadPosRankSum=-0.565;SOR=0.709	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	5	0	1	0
chr22	15528543	15528543	C	T	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.C385T:p.L129F	.	577	937	8	0	0	8	0.0042508	.	.	.	3366907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00749487106293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290260858	0.0006	0.0011	0.0006	0.0006	0.0052	0.0006	0.0006	0.0043	0.0040	0.0052	0.0009	0.0011	0	0.0001	0.0025	0.0006	0.0009	0.0001	0.0019	0.0041	0.0020	0.0018	0.0050	0.0017	0.0017	0.0045	0.0042	0.0050	0	0.0019	0.0006	0	9.463e-05	0.0035	0.0007	0.0010	0.0002	1.0	0.00964	T	0.995	0.02336	T	.	.	.	.	.	.	0.482977	0.12144	N	0.663894	.	.	.	.	.	.	2.6	0.13204	T	4.14	0.00049	N	0.181	0.19593	-0.9434	0.42073	T	0.021	0.08824	T	9	0.009864539	0.00221	T	0.006534	0.17215	T	.	.	0.418	0.45873	0.484294873522	0.48060	0.0468725801710379	0.04630	.	.	0.278370857239	0.07266	T	0.00119	0.00692	T	-0.289407	0.09696	T	-0.653489	0.08711	T	0.0397162234268787	0.03638	T	0.641436	0.26183	T	.	.	.	.	.	.	.	.	-6.318	0.48864	T	.	.	0.087	0.11461	B	.;.	.;.	-0.210858	0.03035	0.466	0.063103759518214994	0.00022	0.00321	0.01686	N	AEFI	0.022082	0.01060	N	-1.751666324304	0.00674	0.02909869	-1.81954680037607	0.00699	0.03111026	1.27382114649005E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	-1.17	0.09152	-1.039000	0.03660	.	.	0.339000	0.19733	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3123:0.6877:0.0:0.0	5.701	0.17152	.	.	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	.	.	.	.	.	.	.	.	0.08333	325.83	87	chr22	15528543	.	C	T	325.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.435;DP=338;ExcessHet=0;FS=5.191;MLEAC=1;MLEAF=0.083;MQ=26.49;MQRankSum=-0.822;QD=3.75;ReadPosRankSum=-0.368;SOR=1.489	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,105,1575	5	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	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	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.08333	613.83	34	chr22	17119423	.	C	T	613.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.046;DP=233;ExcessHet=0;FS=7.142;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.541;SOR=1.211	GT:AD:DP:GQ:PL	0/1:29,27:56:99:624,0,705	5	0	1	0
chr22	17148464	17148464	T	A	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_017829:exon3:c.A337T:p.M113L,HDHD5:NM_033070:exon3:c.A427T:p.M143L	.	.	.	.	.	.	.	.	.	.	.	3266578	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00474408858729	.	.	4.945e-05	0	8.64e-05	0	0	7.499e-05	0	0	3.88e-05	6	154602	rs759011167	6.088e-05	6.088e-05	7.487e-05	4.675e-05	0.0003	5.028e-05	4.672e-05	6.094e-05	5.366e-05	0	2.236e-05	0	0	0	0.0003	7.105e-05	9.935e-05	1.159e-05	5.914e-05	5.91e-05	8.994e-05	2.69e-05	0.0001	3.078e-05	2.21e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.715	0.03984	T	0.876	0.03259	T	0.0	0.02946	B	0.0	0.01387	B	0.013511	0.28818	N	0.353786	1	0.81001	D	.	.	.	2.18	0.18875	T	0.23	0.04613	N	0.14	0.15469	-0.9707	0.37052	T	0.011	0.04369	T	10	0.047970712	0.04185	T	0.004744	0.11816	T	0.014	0.01968	0.435	0.48664	0.0482279557977	0.04254	0.6596934463068606	0.65906	0.169480675496	0.19104	0.383811503649	0.22796	T	9.81E-4	0.00525	T	-0.436738	0.01352	T	-0.673438	0.07390	T	0.0150565688621154	0.00325	T	0.533147	0.17760	T	0.039301623	0.05401	0.038753387	0.03814	0.039301623	0.05401	0.038753387	0.03814	-1.234	0.01940	T	.	.	0.088	0.11510	B	.;.	.;.	1.075781	0.14584	11.15	0.47133583701802717	0.03830	0.84544	0.43627	D	AEFBI	0.401947	0.47623	N	-1.2576939924105	0.04199	0.1890668	-1.06688712054024	0.08359	0.4106377	0.115996972931822	0.16768	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	-0.062	0.13114	0.926000	0.28405	-0.245000	0.10556	-1.860000	0.00563	0.965000	0.33920	0.159000	0.23246	0.185000	0.21450	0.0:0.5395:0.2461:0.2144	6.220	0.19887	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2619.06	34	chr22	17148464	.	T	A	2619.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.528;DP=374;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.818;SOR=0.697	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1276,0,1294	4	0	2	0
chr22	17594584	17594584	C	T	exonic	ATP6V1E1	.	nonsynonymous SNV	ATP6V1E1:NM_001039366:exon7:c.G497A:p.R166H,ATP6V1E1:NM_001039367:exon7:c.G473A:p.R158H,ATP6V1E1:NM_001696:exon8:c.G563A:p.R188H	.	.	.	.	.	.	.	.	.	.	.	2888846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.00338761021601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489592862	1.039e-05	1.915e-05	1.513e-05	5.585e-06	0.0001	6.24e-06	4.95e-06	4.726e-05	3.045e-05	6.043e-05	0.0001	0	0	0	0	4.533e-06	3.347e-05	1.209e-05	5.931e-05	5.908e-05	9.022e-05	2.697e-05	0.0001	3.085e-05	2.216e-05	6.31e-05	4.317e-05	0.0001	0	6.573e-05	0	0	0	0.0068	0	0	0	0.021	0.53900	D	0.05	0.48080	T	0.002	0.09854	B	0.009	0.14300	B	0.000001	0.62929	D	0.054253	0.703435	0.30081	N	0.955	0.23872	L	.	.	.	-0.45	0.16187	N	0.162	0.21449	-0.7547	0.57689	T	0.151	0.47997	T	9	0.23519343	0.40575	T	0.003388	0.07603	T	0.129	0.35316	0.615	0.74884	0.123314135267	0.11883	0.5696102105940953	0.56889	0.542857424705	0.51379	0.628062844276	0.56871	T	0.113433	0.43047	T	-0.0595118	0.42983	T	-0.323261	0.42217	T	0.206493511795998	0.20769	T	0.694731	0.30434	T	0.22839046	0.45558	0.15165234	0.35713	0.22839046	0.45558	0.15165234	0.35712	-6.487	0.50186	T	0.13060722665719154	0.13755	0.079	0.11654	B	.;.;.;.	.;.;.;.	4.109846	0.61346	24.3	0.99381674286395849	0.61935	0.93167	0.57500	D	AEFGBHCI	0.652221	0.62569	D	-0.0196414809087403	0.40967	2.44214	0.089263474930862	0.44007	2.690862	0.999999996169574	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.94	3.94	0.44807	5.082000	0.64281	3.210000	0.36796	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	15.281	0.73481	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	624.83	32	chr22	17594584	.	C	T	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.396;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=2.12;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1001	5	0	1	0
chr22	17864926	17864926	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_001122731:exon18:c.G2578A:p.V860M,MICAL3:NM_015241:exon19:c.G2578A:p.V860M,MICAL3:NM_001136004:exon22:c.G2950A:p.V984M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0423276315662	0.0008	0.000399361	0.0007	0.0001	0.0014	0.0001	0	0.0010	0	0	0.0006209	96	154602	rs199950640	0.0006	0.0006	0.0007	0.0006	0.0015	0.0006	0.0006	0.0013	0.0011	0.0001	0.0015	0	5.038e-05	0.0004	0.0002	0.0007	0.0008	2.319e-05	0.0007	0.0006	0.0006	0.0007	0.0020	0.0005	0.0005	0.0015	0.0013	0.0003	0	0.0020	0	0.0002	9.429e-05	0	0.0008	0.0005	0	0.066	0.36113	T	0.229	0.35330	T	0.025	0.42183	B	0.005	0.35394	B	0.000764	0.00682	N	3.503140	1	0.08975	N	0.345	0.11182	N	-0.02	0.69287	T	-0.76	0.22078	N	0.098	0.16447	-0.7317	0.58877	T	0.247	0.61658	T	10	0.009722859	0.00219	T	0.042328	0.60404	D	0.075	0.21907	.	.	0.389052329274	0.38518	0.2608422865943414	0.25997	0.140375500075	0.15827	0.248956263065	0.03658	T	0.00924	0.08422	T	-0.447734	0.01164	T	-0.440543	0.28747	T	0.0331172877985968	0.02490	T	0.717928	0.33070	T	0.016754646	0.00219	0.034113746	0.02420	0.016754646	0.00219	0.034113746	0.02420	-5.063	0.41369	T	.	.	0.081	0.12560	B	.;.;.;.;.	.;.;.;.;.	-0.387480	0.02261	0.233	0.95773148469574887	0.27783	0.01737	0.05485	N	AEFDBI	0.057959	0.10837	N	-0.973069359671175	0.09182	0.4335058	-1.12010815747507	0.07316	0.3554145	0.998865100865553	0.37845	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.72	-5.71	0.02218	-1.960000	0.01608	-2.840000	0.03308	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3671:0.1925:0.4404	7.735	0.27972	976	0.04745	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1020.83	35	chr22	17864926	.	C	T	1020.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.857;DP=236;ExcessHet=0;FS=2.301;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.48;SOR=0.376	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	5	0	1	0
chr22	18085172	18085172	C	T	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon4:c.C728T:p.A243V,PEX26:NM_017929:exon5:c.C728T:p.A243V	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	0	1485	36	1	0	38	0.012633	.	.	.	101776	not_provided|not_specified|Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0474069941573	0.0013	0.000599042	0.0025	0.0005	0.0049	0	0	0.0027	0.0055	0.0031	0.002238	346	154602	rs149153003	0.0020	0.0020	0.0019	0.0021	0.0078	0.0019	0.0019	0.0060	0.0054	0.0003	0.0028	0.0143	5.038e-05	1.872e-05	0.0078	0.0017	0.0036	0.0037	0.0015	0.0015	0.0015	0.0016	0.0027	0.0014	0.0013	0.0016	0.0015	0.0002	0	0.0010	0.0161	0	0	0.0170	0.0019	0.0024	0.0027	1.0	0.00964	T	0.892	0.03117	T	0.037	0.20876	B	0.008	0.13708	B	0.807127	0.06805	N	1.130330	1	0.08975	N	1.445	0.36358	L	-3.31	0.93835	D	0.39	0.03521	N	0.169	0.17966	-0.4963	0.68783	T	0.459	0.78970	T	10	0.0070671737	0.00161	T	0.047407	0.62906	D	0.197	0.47942	.	.	0.713262185059	0.71075	0.18857996755709533	0.18775	0.169790244603	0.19148	0.245509326458	0.03309	T	0.160927	0.50497	T	-0.343929	0.05120	T	-0.26828	0.47994	T	0.0011585195957036	0.00011	T	0.680032	0.28847	T	0.013598841	0.00064	0.029807605	0.01360	0.01283413	0.00043	0.033644404	0.02294	-3.795	0.20730	T	0.18329792778732906	0.23723	0.085	0.10256	B	.;.	.;.	1.406946	0.18215	13.61	0.90691769302167446	0.19942	0.02475	0.06940	N	AEFDBI	0.039902	0.05861	N	-1.08820130963749	0.06860	0.3169854	-1.0370179735868	0.08979	0.4442657	0.99972819727319	0.42220	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	-1.98	0.07070	0.506000	0.22367	-0.028000	0.12833	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.425000	0.27339	0.0:0.3426:0.1547:0.5026	5.148	0.14322	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.010870	0.002924	0.000000	0.017241	0.003049	0.007576	0.08333	856.83	34	chr22	18085172	.	C	T	856.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.111;DP=250;ExcessHet=0;FS=3.6;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.92;SOR=1.25	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.08333	1028.83	48	chr22	18922842	.	G	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.088;DP=297;ExcessHet=0;FS=2.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.886;SOR=0.467	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1039,0,1390	5	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.5	9200.51	133	chr22	18925165	.	A	G	9200.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.433;DP=571;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.332;SOR=0.723	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1589,0,1804	2	2	2	0
chr22	19178634	19178634	C	G	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_005984:exon1:c.G40C:p.A14P	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.91514969292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.087	0.40747	T	0.53	0.37698	P	0.228	0.38116	B	0.008805	0.30655	N	0.295586	0.999964	0.52935	D	1.645	0.42016	L	-1.38	0.80301	T	-2.13	0.48354	N	0.189	0.20660	-0.6497	0.62727	T	0.313	0.68300	T	10	0.33928877	0.51018	T	0.91515	0.99371	D	0.317	0.63904	0.384	0.40298	0.565793268254	0.56243	0.7582496552490378	0.75772	2.28727837	0.96362	0.871913552284	0.92841	D	0.217598	0.58008	T	0.00177346	0.51899	T	-0.235229	0.51263	T	0.571265697479248	0.35283	D	0.725927	0.34027	T	0.30966347	0.53757	0.45400292	0.68249	0.30966347	0.53757	0.45400292	0.68250	-4.574	0.31843	T	.	.	0.151	0.33481	B	.	.	3.168829	0.42966	21.6	0.95784513889219658	0.27812	0.96224	0.68106	D	AEFGBHCIJ	0.587028	0.58484	D	-0.559246758872535	0.20195	1.06282	-0.608992775389284	0.19262	1.032668	0.999999999893971	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.36	1.22	0.20300	-0.153000	0.10130	1.409000	0.26264	-0.309000	0.06099	0.000000	0.06391	0.996000	0.32793	0.027000	0.12703	0.0:0.7838:0.0:0.2162	7.152	0.24793	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	143.99	8	chr22	19178634	.	C	G	143.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.439;SOR=0.586	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,258	5	0	1	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.08333	1096.83	35	chr22	19180775	.	C	T	1096.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=262;ExcessHet=0;FS=1.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.284;SOR=0.896	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	0
chr22	19331450	19331450	C	G	exonic	HIRA	.	nonsynonymous SNV	HIRA:NM_003325:exon25:c.G3044C:p.R1015T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0353227489854	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219239784	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.191	0.29823	T	0.194	0.28120	T	0.241	0.32965	B	0.196	0.36635	B	0.000001	0.62929	D	0.054768	0.999994	0.58761	D	2.015	0.55033	M	-0.38	0.72348	T	-2.12	0.48184	N	0.475	0.55972	-0.8284	0.53403	T	0.220	0.58266	T	10	0.2843014	0.46012	T	0.035323	0.56271	D	0.279	0.59619	.	.	0.676257273396	0.67350	0.6404389787147455	0.63978	0.88529838353	0.69962	0.653863191605	0.60535	T	0.393269	0.75272	T	0.119067	0.66279	D	-0.0667448	0.65858	T	0.75726979970932	0.43696	D	0.906909	0.67223	D	0.35990664	0.57828	0.15804584	0.36927	0.35990664	0.57829	0.15804584	0.36926	-5.949	0.56167	T	.	.	0.304	0.53332	B	.;.	.;.	2.967225	0.39537	21.0	0.95992530467147164	0.28391	0.96544	0.69671	D	AEFGBCI	0.625334	0.60857	D	-0.00629864189700655	0.41570	2.488816	0.139335573309591	0.46580	2.90167	0.999969565742072	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.85	0.43556	3.995000	0.56715	1.685000	0.28035	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9244:0.0:0.0756	13.628	0.61646	482	0.77288	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	702.83	41	chr22	19331450	.	C	G	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.043;DP=208;ExcessHet=0;FS=2.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.62;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1035:.	5	0	1	0
chr22	19331451	19331451	T	C	exonic	HIRA	.	nonsynonymous SNV	HIRA:NM_003325:exon25:c.A3043G:p.R1015G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0554388924173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320641684	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.017	0.61437	D	0.03	0.54159	D	0.241	0.32965	B	0.109	0.31370	B	0.000001	0.62929	D	0.054768	0.999986	0.54805	D	1.67	0.42885	L	-0.41	0.72678	T	-2.63	0.56466	D	0.462	0.49874	-0.8364	0.52885	T	0.225	0.58894	T	10	0.32355952	0.49691	T	0.055439	0.66233	D	0.347	0.66863	.	.	0.803429469081	0.80159	0.6042743418113422	0.60358	0.642628147257	0.57826	0.605949640274	0.53744	T	0.431462	0.77958	T	0.143464	0.68653	D	-0.0316999	0.68256	D	0.84378445148468	0.49639	D	0.860314	0.55431	D	0.54296756	0.69562	0.3060541	0.56631	0.54296756	0.69563	0.3060541	0.56630	-6.489	0.64568	T	.	.	0.238	0.47195	B	.;.	.;.	2.658210	0.34622	19.68	0.99421803626269833	0.63790	0.92962	0.56978	D	AEFGBCI	0.685881	0.64774	D	-0.124647117347902	0.36321	2.097889	-0.00623070116835735	0.39432	2.337983	0.971214705305767	0.29269	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.85	0.43556	3.365000	0.52060	4.314000	0.42978	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1462:0.8538	11.876	0.51829	482	0.77288	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	702.83	41	chr22	19331451	.	T	C	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.797;DP=211;ExcessHet=0;FS=2.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.27;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1035:.	5	0	1	0
chr22	20405671	20405671	C	A	exonic	ZNF74	.	nonsynonymous SNV	ZNF74:NM_001256525:exon5:c.C425A:p.A142D,ZNF74:NM_003426:exon5:c.C638A:p.A213D,ZNF74:NM_001256524:exon6:c.C638A:p.A213D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00180353994409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308731607	1.371e-06	2.736e-06	1.364e-06	1.379e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.004e-07	0	1.164e-05	6.563e-06	6.561e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.554	0.06502	T	0.215	0.26306	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.45	0.05642	T	-0.09	0.08340	N	0.083	0.05929	-0.9111	0.46719	T	0.012	0.04510	T	9	0.06568694	0.08898	T	0.001804	0.03089	T	0.006	0.00375	0.365	0.37199	0.0138822411134	0.00435	0.23838048999158398	0.23752	0.685675236918	0.60296	0.311019003391	0.12061	T	0.029605	0.21175	T	-0.391943	0.02613	T	-0.700145	0.05817	T	0.0242145096632015	0.01172	T	0.325267	0.07620	T	0.08391733	0.19401	0.07286576	0.15770	0.08391733	0.19400	0.07286576	0.15770	-4.251	0.27484	T	.	.	0.086	0.21840	B	.;.;.	.;.;.	0.103150	0.05042	1.588	0.60924564474532328	0.06582	0.05188	0.11009	N	AEFDBI	0.050760	0.08902	N	-1.21717595367309	0.04751	0.2150637	-1.26538726210044	0.04906	0.2325872	5.35875566276321E-4	0.07248	0.651	0.46895	0	0.653731	0.59785	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	3.67	0.201	0.14463	-2.086000	0.01449	-0.784000	0.07442	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2026:0.5209:0.1661:0.1104	2.801	0.05083	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	.	.	.	.	.	.	.	.	0.08333	382.83	35	chr22	20405671	.	C	A	382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.183;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.522;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	5	0	1	0
chr22	20858679	20858684	CCGCCT	-	exonic	PI4KA	.	nonframeshift deletion	PI4KA:NM_001362862:exon1:c.42_47del:p.G17_G18del,PI4KA:NM_001362863:exon1:c.42_47del:p.G17_G18del,PI4KA:NM_058004:exon1:c.42_47del:p.G17_G18del	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	87	1401	22	2	10	36	0.00919378	.	.	.	729046	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0034	0	0.0111	0	.	0.0099	0	0.0012	0.0003458	9	26028	rs532050128	0.0034	0.0034	0.0034	0.0034	0.0081	0.0033	0.0033	0.0072	0.0069	0.0081	0.0062	0.0169	0.0008	0.0006	0.0075	0.0032	0.0042	0.0012	0.0046	0.0047	0.0048	0.0044	0.0072	0.0044	0.0042	0.0065	0.0062	0.0072	0	0.0038	0.0168	0.0019	0.0002	0.0103	0.0038	0.0053	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	460.79	34	chr22	20858678	.	GCCGCCT	G	460.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.218;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.03;ReadPosRankSum=-0.297;SOR=0.836	GT:AD:DP:GQ:PL	0/1:11,12:23:99:471,0,420	5	0	1	0
chr22	21016091	21016091	A	T	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001159554:exon2:c.A236T:p.Q79L,P2RX6:NM_005446:exon2:c.A314T:p.Q105L	.	557	963	1	1	0	3	0.00155521	0.9994	0.964	.	3371249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0126783521306	0.0002	.	0.0003	0.0004	0	0	0	0.0005	0	0	5.82e-05	9	154602	rs146908572	0.0001	0.0001	0.0001	0.0001	0.0002	9.543e-05	8.988e-05	0.0001	0.0001	6.239e-05	5.373e-05	0	0	2e-05	0.0002	0.0001	0.0001	1.252e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.899e-05	4.811e-05	0	6.531e-05	0	0	0	0	0.0002	0	0	0.032	0.47320	D	0.024	0.83351	D	0.068	0.23728	B	0.062	0.26930	B	0.000306	0.45977	D	0.000000	0.99938	0.48019	D	3.04	0.86592	M	3.53	0.04852	T	-5.76	0.90332	D	0.577	0.59901	-1.1757	0.00437	T	0.052	0.22076	T	10	0.37505004	0.53767	T	0.012678	0.31464	T	0.215	0.50805	.	.	0.185906805712	0.18197	0.4584617952807381	0.45764	0.127003426639	0.14312	0.428711742163	0.29033	T	0.197445	0.55413	T	-0.176329	0.24282	T	-0.198912	0.54749	T	0.752699196338654	0.43436	D	0.914909	0.75689	D	0.2890196	0.51901	0.2748136	0.53413	0.2890196	0.51901	0.2748136	0.53412	-9.453	0.80522	D	.	.	0.327	0.55039	B	.;.	.;.	4.302652	0.65709	24.9	0.98877276745530152	0.47754	0.98277	0.81186	D	AEFDBHI	0.818065	0.73940	D	0.137084207365697	0.48200	3.035408	0.141216667311675	0.46680	2.909968	0.999999999982275	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.24	4.24	0.49486	7.473000	0.80010	10.824000	0.83855	0.726000	0.85437	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.018	0.41197	754	0.51307	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	476.83	34	chr22	21016091	.	A	T	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=210;ExcessHet=0;FS=3.004;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=-2.092;QD=13.25;ReadPosRankSum=1.39;SOR=0.307	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1665	5	0	1	0
chr22	21049100	21049100	G	T	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon4:c.G565T:p.A189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00166065658431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.748	0.04842	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.75	0.50192	T	-0.05	0.07736	N	0.089	0.06720	-1.1057	0.03467	T	0.082	0.32411	T	6	0.08442953	0.14149	T	0.001661	0.02728	T	0.009	0.00846	0.308	0.27967	0.218845423259	0.21516	0.059355196649959	0.05875	.	.	.	.	.	0.006021	0.05459	T	-0.292776	0.09360	T	-0.658329	0.08379	T	0.0420300447382945	0.04061	T	0.564244	0.19889	T	0.019119265	0.00437	0.07143618	0.15297	0.019119265	0.00437	0.07143618	0.15297	-3.445	0.15670	T	.	.	0.080	0.07889	B	.	.	1.123150	0.15092	11.58	0.86001157881678869	0.16249	0.26523	0.23017	N	AEFDGBI	0.120159	0.23420	N	-0.274869305359018	0.30122	1.676668	-0.291023520066766	0.28392	1.582801	0.99917267085939	0.38651	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.93	2.87	0.32523	0.848000	0.27362	1.448000	0.26583	0.342000	0.19800	0.581000	0.27594	0.864000	0.27519	0.389000	0.26536	0.0:0.2312:0.7688:0.0	9.405	0.37620	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	36	chr22	21049100	.	G	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.158;DP=315;ExcessHet=0;FS=6.741;MLEAC=1;MLEAF=0.083;MQ=39.17;MQRankSum=-1.496;QD=3.81;ReadPosRankSum=-2.002;SOR=1.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	5	0	1	0
chr22	21049101	21049101	C	T	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon4:c.C566T:p.A189V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00241906104557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.773e-06	1.59e-06	0	3.286e-06	3.157e-06	0	0	.	.	0	0	0	0	0	0	3.157e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.597	0.08025	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.65	0.52642	T	-0.88	0.23808	N	0.071	0.04426	-0.9716	0.36862	T	0.077	0.30951	T	6	0.06505579	0.08720	T	0.002419	0.04757	T	0.021	0.04004	0.328	0.31196	0.0762999501168	0.06990	0.08180833127203899	0.08115	.	.	.	.	.	0.034752	0.23446	T	-0.310559	0.07700	T	-0.683873	0.06750	T	0.033943120265204	0.02628	T	0.549445	0.18903	T	0.013693727	0.00067	0.04660608	0.06534	0.013693727	0.00067	0.04660608	0.06533	-3.845	0.21478	T	.	.	0.074	0.05060	B	.	.	0.168166	0.05577	2.032	0.87727663409617529	0.17437	0.02085	0.06197	N	AEFDGBI	0.032269	0.03610	N	-0.894191899871742	0.10980	0.5274651	-1.0704793994045	0.08285	0.4067342	0.999943463101992	0.47345	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.93	-6.47	0.01731	-0.240000	0.08970	-1.040000	0.06518	-0.653000	0.04380	0.008000	0.17931	0.000000	0.08366	0.395000	0.26670	0.1373:0.1527:0.2738:0.4362	1.507	0.02338	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	36	chr22	21049101	.	C	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.305;DP=316;ExcessHet=0;FS=6.741;MLEAC=1;MLEAF=0.083;MQ=39.09;MQRankSum=-1.496;QD=3.81;ReadPosRankSum=-1.981;SOR=1.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	5	0	1	0
chr22	21057111	21057111	A	G	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon8:c.A934G:p.R312G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0355255070313	.	0.000199681	6.068e-05	0	0	0.0021	0	0	0	0	1.29e-05	2	154602	rs574013863	3.716e-05	3.499e-05	3.074e-05	4.263e-05	0.0004	2.486e-05	2.025e-05	0.0002	0.0002	0	0	0	0.0004	0	0	1.577e-05	0.0001	0	3.94e-05	3.937e-05	5.139e-05	2.686e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.407e-05	0	0	0	0	0.0006	0	0	2.939e-05	0	0.0002	0.112	0.28900	T	0.126	0.35205	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.89	0.45636	T	-3.28	0.65627	D	0.424	0.46368	-1.0101	0.26886	T	0.132	0.44406	T	6	0.087513655	0.14981	T	0.035526	0.56403	D	0.161	0.41658	.	.	0.526078183539	0.52253	0.572514907351372	0.57179	.	.	.	.	.	0.015088	0.12720	T	-0.326611	0.06371	T	-0.370671	0.36811	T	0.619500721523646	0.37185	D	0.608739	0.23025	T	0.27287063	0.50356	0.4040933	0.64847	0.27287063	0.50356	0.4040933	0.64847	-8.985	0.67600	D	.	.	0.174	0.38153	B	.	.	3.407745	0.47254	22.4	0.99257745397226516	0.57088	0.55687	0.29927	D	AEFBCI	0.490445	0.52793	N	0.167192730047822	0.49629	3.161159	0.236043649052287	0.51860	3.364931	0.999999999968258	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	4.9	4.9	0.63643	2.900000	0.48386	10.476000	0.83369	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	1.0:0.0:0.0:0.0	11.268	0.48353	503	0.75780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	880.83	70	chr22	21057111	.	A	G	880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.058;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.695;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	5	0	1	0
chr22	21216026	21216026	G	A	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.C647T:p.P216L	.	652	859	11	0	0	11	0.00636206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	.	.	0.0235	0.0046	0.0175	0.0014	0.0592	0.0307	0.0137	0.0077	0.0001423	22	154602	rs4051627	9.559e-06	4.259e-05	6.303e-06	1.289e-05	0.0001	5.1e-06	4.03e-06	4.277e-05	2.604e-05	0.0001	0	0	0	2.158e-05	0	5.135e-06	1.907e-05	1.436e-05	2.42e-05	4.123e-05	3.1e-05	1.683e-05	8.057e-05	6.43e-06	2.78e-06	2.136e-05	1.092e-05	8.057e-05	0	0	0	0	0	0	0	0	0	0.014	0.54683	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.60951	0.32609	D	.	.	.	2.89	0.10196	T	-5.92	0.88963	D	0.189	0.22357	-0.9854	0.33735	T	0.052	0.22269	T	7	0.00782156	0.00178	T	.	.	.	0.152	0.39956	.	.	.	.	0.8048350542673778	0.80437	2.02496037696	0.94038	.	.	.	.	.	.	-0.228593	0.16836	T	-0.566135	0.15806	T	0.0821270620860859	0.10257	T	0.70423	0.31438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28835	B	.;.	.;.	1.835164	0.23315	15.97	0.98371724050633746	0.40760	0.68824	0.33949	D	AEFBI	0.493809	0.52987	N	-0.110800407276466	0.36922	2.140831	-0.256132902236971	0.29561	1.657122	7.25715180105101E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.97	1.97	0.25278	5.835000	0.69073	7.279000	0.58016	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.297000	0.24428	0.0:0.0:1.0:0.0	9.990	0.41037	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	30.85	12	chr22	21216026	.	G	A	30.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=86;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40.85;MQRankSum=-2.173;QD=2.57;ReadPosRankSum=-1.074;SOR=0.072	GT:AD:DP:GQ:PL	0/0:25,0:25:69:0,69,1035	5	0	1	0
chr22	21216068	21216068	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G605A:p.R202Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00405196476427	.	.	0.0001	0.0003	0.0003	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs766010014	2.967e-05	4.493e-05	3.017e-05	2.917e-05	0.0002	2.207e-05	1.987e-05	6.055e-05	3.895e-05	9.134e-05	0.0002	0	0	0.0001	0	2.254e-05	7.001e-05	0	4.328e-05	4.73e-05	5.609e-05	2.971e-05	7.557e-05	1.854e-05	1.22e-05	2.003e-05	1.055e-05	7.557e-05	0	0	0	0	0	0	4.83e-05	0	0	0.528	0.07071	T	0.457	0.12704	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.29	0.06445	T	-0.42	0.14193	N	0.1	0.08506	-0.9495	0.41058	T	0.017	0.06807	T	7	0.0622952	0.07942	T	0.004052	0.09650	T	0.066	0.19193	0.49	0.57573	0.043077524339	0.03247	0.4310347007208558	0.43020	1.981204247	0.93645	.	.	.	.	.	.	-0.367635	0.03715	T	-0.765859	0.02906	T	0.0101664577143361	0.00137	T	0.678032	0.28700	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15206	B	.;.	.;.	1.660909	0.21183	15.09	0.51857175922842846	0.04639	0.09330	0.15108	N	AEFBI	0.047876	0.08110	N	-0.895697137090923	0.10943	0.5255746	-1.0522501983016	0.08660	0.4268974	7.19681065870471E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.97	-1.71	0.07696	0.782000	0.26449	0.326000	0.17235	-0.697000	0.04075	0.995000	0.38783	0.078000	0.22336	0.415000	0.27117	0.0:0.3385:0.2132:0.4483	3.379	0.06826	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	39.83	11	chr22	21216068	.	C	T	39.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.6;DP=85;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=44.23;MQRankSum=-0.447;QD=3.62;ReadPosRankSum=-0.23;SOR=0.527	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,609	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:15,5:20:99:99,0,380	0	0	5	1
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	170.92	34	chr22	21221866	.	C	T	170.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=298;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.95;MQRankSum=2.46;QD=1.1;ReadPosRankSum=1.09;SOR=0.705	GT:AD:DP:GQ:PL	0/1:91,11:102:1:1,0,2377	4	0	2	0
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.000000	0.013661	0.008772	0.050000	0.008772	0.015432	0.007576	0.1667	795.06	42	chr22	21445988	.	G	A	795.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.526;DP=192;ExcessHet=0.4139;FS=5.162;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.731;SOR=0.277	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1314	4	0	2	0
chr22	21629957	21629957	G	C	exonic	YDJC	.	nonsynonymous SNV	YDJC:NM_001017964:exon1:c.C58G:p.R20G,YDJC:NM_001371350:exon1:c.C58G:p.R20G	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0415179828463	0.0002	0.000199681	0.0004	0.0001	0.0006	0	0	0.0005	0	0.0003	0.0003105	48	154602	rs142465613	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0003	0.0004	0.0004	6.173e-05	0.0002	0	0	0.0002	0.0010	0.0004	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.216e-05	0	6.534e-05	0	0	0.0002	0	0.0004	0	0	0.032	0.44694	D	0.366	0.16668	T	0.753	0.43334	P	0.615	0.51231	P	0.023025	0.26520	N	0.327772	0.597908	0.32513	D	0.595	0.15482	N	1.24	0.36691	T	-2.52	0.54702	D	0.714	0.71942	-0.9993	0.30115	T	0.071	0.28936	T	10	0.1723808	0.32009	T	0.041518	0.59970	D	0.091	0.26358	.	.	0.104622674875	0.10061	0.8751734633928584	0.87484	1.46342036736	0.86395	0.837720036507	0.87746	D	0.007631	0.07024	T	-0.29745	0.08902	T	-0.339102	0.40445	T	0.0692916102731118	0.08552	T	0.90371	0.66210	D	0.63512576	0.74571	0.60444933	0.77009	0.63512576	0.74572	0.60444933	0.77010	-8.953	0.67394	D	.	.	0.224	0.45593	B	.;.	.;.	3.959629	0.58061	23.9	0.88405240804585583	0.17951	0.56824	0.30217	D	ALL	0.395135	0.47211	N	0.0181633586523325	0.42682	2.576254	0.118980662227392	0.45521	2.813722	0.999999999998032	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	4.44	0.53164	1.689000	0.37319	.	.	0.610000	0.48991	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.016	0.71249	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	990.06	35	chr22	21629957	.	G	C	990.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.62;DP=245;ExcessHet=0.4139;FS=2.615;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.35;SOR=0.976	GT:AD:DP:GQ:PL	0/1:37,13:50:99:321,0,996	4	0	2	0
chr22	22514483	22514483	A	G	exonic	ZNF280A	.	nonsynonymous SNV	ZNF280A:NM_080740:exon2:c.T1148C:p.M383T	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.00594944685631	0.0009	0.00159744	0.0021	0.0003	0.0023	0	0.0002	0.0011	0.0044	0.0091	0.0018628	288	154602	rs143870620	0.0014	0.0014	0.0010	0.0018	0.0172	0.0014	0.0013	0.0144	0.0134	0.0004	0.0015	0.0033	0	5.616e-05	0.0172	0.0007	0.0025	0.0105	0.0010	0.0010	0.0009	0.0010	0.0062	0.0008	0.0008	0.0045	0.0039	0.0002	0	0.0022	0.0035	0	9.411e-05	0.0140	0.0007	0.0038	0.0062	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.642586	0.30603	N	.	.	.	1.57	0.29342	T	-5.76	0.87835	D	0.767	0.76481	-0.8955	0.48437	T	0.091	0.34874	T	9	0.013823152	0.00292	T	0.005949	0.15520	T	0.233	0.53499	.	.	0.575712373409	0.57239	0.10935647322485376	0.10864	0.247428932849	0.27293	0.693308591843	0.66181	T	.	.	.	-0.365541	0.03826	T	-0.288456	0.45933	T	0.0641167087728233	0.07799	T	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.83210	P	.	.	4.113507	0.61430	24.3	0.99054096764826915	0.51321	0.94961	0.62935	D	AEFDGBHI	0.548931	0.56202	D	0.389197484443325	0.60836	4.277072	0.29689041017889	0.55357	3.698876	0.999999866200883	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	3.9	1.75	0.23707	4.041000	0.57051	2.625000	0.33658	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7285:0.0:0.0995:0.172	4.528	0.11397	976	0.04745	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	0.018127	0.000000	0.014946	0.032164	0.050000	0.025862	0.015244	0.026515	0.25	3745.0	98	chr22	22514483	.	A	G	3745.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.403;DP=451;ExcessHet=0;FS=0.677;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.84;ReadPosRankSum=-0.766;SOR=0.595	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	4	1	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1755.92	87	chr22	23311788	.	T	TCCGG	1755.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.75;DP=317;ExcessHet=3.1439;FS=24.364;MLEAC=4;MLEAF=0.333;MQ=54.19;MQRankSum=-4.822;QD=8.02;ReadPosRankSum=0.251;SOR=2.113	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1500	2	0	4	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	350.39	69	chr22	23311830	.	G	A	350.39	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.79;DP=265;ExcessHet=1.383;FS=32.833;MLEAC=3;MLEAF=0.25;MQ=56.47;MQRankSum=-5.318;QD=3.47;ReadPosRankSum=-2.107;SOR=5.084	GT:AD:DP:GQ:PL	0/0:45,0:45:95:0,95,1321	3	0	3	0
chr22	23573471	23573471	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C440T:p.T147M,IGLL1:NM_020070:exon3:c.C437T:p.T146M	Agammaglobulinemia 2, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	538496	Agammaglobulinemia_2,_autosomal_recessive|not_provided	MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00468859019553	0.0007	0.00199681	0.0012	0.0004	0.0008	0.0043	0	0.0008	0.0011	0.0022	0.0010802	167	154602	rs112775194	0.0008	0.0019	0.0008	0.0009	0.0031	0.0008	0.0008	0.0027	0.0025	0.0007	0.0004	0.0015	0.0031	0.0001	0.0023	0.0006	0.0010	0.0029	0.0012	0.0023	0.0011	0.0012	0.0050	0.0010	0.0010	0.0035	0.0030	0.0007	0	0.0003	0.0009	0.0050	0	0	0.0014	0.0009	0.0033	0.024	0.91255	D	0.023	0.57104	D	0.842	0.46562	P	0.744	0.55835	P	0.761581	0.09619	N	0.883025	1	0.08975	N	2.26	0.64354	M	4.02	0.03178	T	-3.74	0.78046	D	0.119	0.10911	-1.0513	0.14036	T	0.019	0.08126	T	10	0.016934574	0.00359	T	0.004689	0.11660	T	0.065	0.18881	.	.	0.209622950755	0.20551	0.3573142907836002	0.35645	0.160446265012	0.18105	0.443933844566	0.31114	T	0.272379	0.64476	T	-0.492915	0.00627	T	-0.481096	0.24331	T	0.08163252429545	0.10195	T	0.358264	0.08182	T	0.12560488	0.29439	0.23286574	0.48460	0.09550721	0.22479	0.20060235	0.43998	-7.736	0.59257	D	0.21295265438520086	0.28585	0.073	0.06159	B	.;.	.;.	1.615803	0.20643	14.84	0.97134583456692747	0.32512	0.00769	0.03173	N	AEFGI	0.046750	0.07797	N	-0.920966437021993	0.10352	0.4942933	-1.2079908728977	0.05780	0.276408	7.67661893798426E-5	0.04552	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	-1.69	0.07747	0.041000	0.13813	-8.323000	0.00989	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2415:0.0:0.5726:0.1859	3.881	0.08584	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003784	0.005263	0.002717	0.004132	0.000000	0.000000	0.003145	0.003906	0.08333	1593.83	45	chr22	23573471	.	G	A	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.102;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=-0.932;QD=12.36;ReadPosRankSum=1.08;SOR=0.662	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	5	0	1	0
chr22	23744210	23744210	C	T	exonic	ZNF70	.	nonsynonymous SNV	ZNF70:NM_021916:exon2:c.G931A:p.D311N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00295109493687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256353654	6.852e-06	6.84e-06	2.727e-06	1.102e-05	3e-05	3.47e-06	2.53e-06	1.94e-06	1.28e-06	3e-05	2.259e-05	0	0	0	0	5.4e-06	1.659e-05	1.166e-05	1.375e-05	1.344e-05	1.343e-05	1.408e-05	3.041e-05	2.28e-06	8.6e-07	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.041e-05	0	0	1.0	0.00964	T	0.898	0.03065	T	0.318	0.32936	B	0.038	0.23361	B	.	.	.	.	0.999999	0.08975	N	0.725	0.18768	N	3.2	0.07236	T	1.68	0.00591	N	0.062	0.03392	-1.0035	0.28903	T	0.014	0.05513	T	9	0.033715934	0.01556	T	0.002951	0.06280	T	0.073	0.21317	0.25	0.18757	0.0401082797425	0.02173	0.01958531669509605	0.01912	0.135798255112	0.15315	0.40876814723	0.26286	T	0.034004	0.23145	T	-0.466215	0.00898	T	-0.824597	0.01362	T	0.0743840935784381	0.09253	T	0.150085	0.01260	T	0.066973746	0.14460	0.07632017	0.16891	0.066973746	0.14459	0.07632017	0.16891	-2.561	0.06212	T	.	.	0.108	0.20430	B	.	.	1.187596	0.15784	12.10	0.11901843020970364	0.00192	0.13929	0.18130	N	AEFDBHCI	0.059244	0.11175	N	-0.73015865782366	0.15178	0.7626496	-0.720137228704342	0.16460	0.8708311	0.0261067758045982	0.13692	0.562547	0.31514	0	0.614415	0.52539	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.47	3.47	0.38831	-1.210000	0.03109	0.855000	0.22175	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.775:0.225:0.0	9.096	0.35799	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	953.83	34	chr22	23744210	.	C	T	953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=267;ExcessHet=0;FS=1.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.454;SOR=0.494	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chr22	24000092	24000092	C	T	exonic	GSTT4	.	nonsynonymous SNV	GSTT4:NM_001358664:exon4:c.G511A:p.V171M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479077419	0.0007	4.135e-05	0	0.0011	0.0192	0.0002	9.843e-05	0.0034	0.0014	0.0192	0	0	0	0	0.0006	0	0	0	0.0010	0.0012	0.0011	0.0010	0.0033	0.0009	0.0009	0.0029	0.0027	0.0033	0	0.0006	0	0	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05579397	0.06153	T	.	.	.	.	.	.	.	.	.	0.2333586619379872	0.23250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29847	0.05558	T	0.042250685	0.06374	0.1477872	0.34960	0.042250685	0.06374	0.1477872	0.34959	-5.127	0.38190	T	.	.	0.181	0.39373	B	.	.	2.750515	0.36054	20.1	0.70931692165534566	0.09459	0.02702	0.07349	N	AEFGI	.	.	.	.	.	.	.	.	.	4.70852677689962E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.134058	0.26174	2.93	0.326	0.15150	-1.145000	0.03305	-1.259000	0.05884	-0.457000	0.05124	0.000000	0.06391	0.000000	0.08366	0.610000	0.31640	0.0:0.2055:0.4088:0.3857	4.755	0.12452	929	0.16858	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	81.4	3	chr22	24000092	.	C	T	81.4	.	AC=2;AF=0.167;AN=12;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=20.35;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,107	5	1	0	0
chr22	24084703	24084703	T	C	exonic	CABIN1	.	nonsynonymous SNV	CABIN1:NM_001201429:exon20:c.T2885C:p.I962T,CABIN1:NM_001199281:exon21:c.T3035C:p.I1012T,CABIN1:NM_012295:exon21:c.T3035C:p.I1012T	.	.	.	.	.	.	.	.	.	.	.	2682428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.0217464338924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904272828	4.789e-05	4.788e-05	4.901e-05	4.676e-05	6.026e-05	3.86e-05	3.54e-05	4.813e-05	4.424e-05	2.987e-05	0	0	0	0	0	6.026e-05	1.656e-05	1.159e-05	1.315e-05	1.314e-05	2.571e-05	0	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.14	0.25664	T	0.108	0.37730	T	0.011	0.15914	B	0.003	0.08700	B	0.000548	0.43413	D	0.241069	0.999998	0.08975	N	1.79	0.46772	L	-0.04	0.67367	T	-2.67	0.57110	D	0.43	0.48227	-0.8736	0.50257	T	0.172	0.51325	T	10	0.21125895	0.37548	T	0.021746	0.44560	T	0.271	0.58633	.	.	0.793068768563	0.79114	0.44379231098697475	0.44297	1.08246133616	0.77175	0.62800014019	0.56861	T	0.592681	0.86829	D	-0.044171	0.45327	T	-0.204371	0.54233	T	0.672163844108582	0.39434	D	0.911709	0.68653	D	0.08171743	0.18790	0.11996299	0.28953	0.08171743	0.18790	0.11996299	0.28952	-6.981	0.53895	T	.	.	0.305	0.57280	B	.;.;.;.	.;.;.;.	2.914988	0.38680	20.8	0.97861721603587148	0.36472	0.91156	0.52970	D	AEFGBI	0.516647	0.54309	D	-0.120525537747355	0.36499	2.110605	0.0382557241139201	0.41508	2.494869	0.99801018179478	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.192000	0.71992	7.738000	0.67953	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.086:0.0:0.914	9.617	0.38863	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2121.83	33	chr22	24084703	.	T	C	2121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.042;DP=296;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-0.083;SOR=0.774	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1246	5	0	1	0
chr22	24232851	24232851	G	A	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302465:exon2:c.C341T:p.A114V,GGT5:NM_001099782:exon3:c.C472T:p.R158W,GGT5:NM_001302464:exon3:c.C472T:p.R158W,GGT5:NM_001099781:exon4:c.C568T:p.R190W,GGT5:NM_004121:exon4:c.C568T:p.R190W	.	405	1115	2	0	0	2	0.000896057	.	.	.	2673056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0546425233167	7.7e-05	0.000199681	0.0003	0.0006	0.0009	0	0	0.0004	0	0	9.06e-05	14	154602	rs146969821	7.681e-05	0.0001	7.161e-05	8.214e-05	0.0022	6.495e-05	6.037e-05	0.0013	0.0010	0.0002	0.0001	0	2.673e-05	0	0.0022	5.916e-05	0.0003	5.029e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.698e-05	0.0001	9.904e-05	0.0002	0	0.0003	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.003	0.76473	D	0.988	0.67487	D	0.764	0.63276	P	0.376865	0.04396	N	1.433940	1	0.08975	N	2.015	0.55033	M	1.9	0.23486	T	-2.78	0.61435	D	0.508	0.56489	-0.9001	0.47983	T	0.116	0.40986	T	10	0.16185963	0.30350	T	0.054643	0.65935	D	0.145	0.38592	.	.	0.305410167561	0.30157	0.7722193506555136	0.77171	0.721110815847	0.62218	0.378246188164	0.22006	T	0.175463	0.52506	T	-0.124074	0.32460	T	-0.416	0.31534	T	0.125588240145167	0.14969	T	0.877812	0.59215	D	0.34906015	0.56994	0.3010832	0.56141	0.34906015	0.56994	0.3010832	0.56140	-7.126	0.55165	T	.	.	0.141	0.30920	B	.;.;.	.;.;.	2.419895	0.31114	18.64	0.9966650081894457	0.78266	0.09638	0.15349	N	AEFDBI	0.198417	0.32528	N	-0.677371209525004	0.16668	0.8512222	-0.910126465179528	0.11855	0.6064943	0.00445417175288555	0.10566	0.706548	0.73137	0	0.573888	0.26702	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	3.61	-1.73	0.07646	-0.380000	0.07484	-0.686000	0.07862	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.0:0.3136:0.6864	10.362	0.43181	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004103	0.000000	0.006831	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	458.83	46	chr22	24232851	.	G	A	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=213;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.608;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	5	0	1	0
chr22	24623906	24623906	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon11:c.A1010G:p.D337G,GGT1:NM_013430:exon11:c.A1010G:p.D337G,GGT1:NM_013421:exon12:c.A1010G:p.D337G	.	472	1015	35	0	0	35	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00642018502782	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201278692	0.0001	0.0014	9.32e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0	0.0002	0.0011	0	7.524e-05	0.0005	5.962e-05	0.0001	0.0011	1.977e-05	0.0002	2.577e-05	1.349e-05	4.424e-05	5.26e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.042	0.45039	D	0.109	0.37449	T	0.003	0.11197	B	0.008	0.13708	B	0.026060	0.25985	U	0.393704	0.984754	0.24772	N	0.86	0.21358	L	3.06	0.08634	T	-2.81	0.59389	D	0.31	0.37923	-1.0345	0.19014	T	0.023	0.09787	T	10	0.16224849	0.30413	T	0.00642	0.16899	T	0.071	0.20720	.	.	0.221890330934	0.21812	0.7310437235026361	0.75440	.	.	0.432777583599	0.29587	T	0.174211	0.52335	T	-0.213582	0.18877	T	-0.544572	0.17850	T	0.226054698228836	0.21762	T	0.886611	0.61335	D	0.32057133	0.54688	0.22708768	0.47707	0.32057133	0.54688	0.22708768	0.47706	-7.992	0.61016	D	.	.	0.162	0.37558	B	.;.;.;.	.;.;.;.	2.344238	0.30048	18.32	0.96975519854809777	0.31839	0.76743	0.37663	D	AEFI	0.563045	0.57039	D	-0.572254272150079	0.19791	1.03857	-0.607656926219025	0.19295	1.034643	4.35844693757602E-4	0.06970	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	3.53	2.49	0.29274	3.351000	0.51947	4.330000	0.43024	0.725000	0.85415	0.220000	0.24536	0.114000	0.22828	0.481000	0.28588	0.8995:0.0:0.1005:0.0	8.022	0.29573	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	163.06	28	chr22	24623906	.	A	G	163.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.334;DP=183;ExcessHet=0.4139;FS=4.767;MLEAC=2;MLEAF=0.167;MQ=46.22;MQRankSum=-2.983;QD=2.67;ReadPosRankSum=-1.292;SOR=1.525	GT:AD:DP:GQ:PL	0/1:29,7:36:99:106,0,821	4	0	2	0
chr22	25040084	25040084	G	A	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.G2954A:p.S985N	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00462082826253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	6.768e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	4.634e-06	0.0001	0.0025	4.6e-05	5.253e-05	2.569e-05	6.727e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	1.0	0.00964	T	0.727	0.05221	T	0.003	0.11197	B	0.001	0.04355	B	0.313680	0.04031	N	1.491120	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.69	0.19720	N	0.156	0.16447	-1.0363	0.18450	T	0.062	0.25923	T	9	0.030418992	0.01168	T	0.004621	0.11440	T	0.030	0.07022	0.234	0.16305	0.0716867268079	0.06686	0.015119824662782482	0.01467	.	.	0.2558991611	0.04414	T	0.005825	0.05268	T	-0.268353	0.11941	T	-0.623247	0.10933	T	0.0245850720297439	0.01219	T	0.349165	0.07749	T	0.05700391	0.11288	0.06163901	0.11934	0.05700391	0.11288	0.06163901	0.11933	-5.69	0.43605	T	.	.	0.119	0.25232	B	.;.	.;.	1.044918	0.14260	10.83	0.49656687360934504	0.04248	0.03288	0.08337	N	AEFDBI	0.032473	0.03677	N	-0.975913167470298	0.09120	0.4303313	-0.950197230710541	0.10918	0.5530404	0.0270828060156095	0.13752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.22	1.98	0.25351	0.424000	0.21049	1.384000	0.26059	0.618000	0.50648	0.001000	0.13787	0.005000	0.19230	0.173000	0.21076	0.3557:0.0:0.6443:0.0	6.234	0.19960	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	.	.	.	.	.	.	.	.	0.08333	1273.83	34	chr22	25040084	.	G	A	1273.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.174;SOR=0.72	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	5	0	1	0
chr22	25041010	25041010	C	T	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.C3880T:p.P1294S	.	.	.	.	.	.	.	.	.	.	.	3272227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00352643412685	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200775683	4.443e-05	4.241e-05	4.556e-05	4.323e-05	0.0004	3.499e-05	3.203e-05	0.0001	8.053e-05	0	0	0	0	0	0.0004	4.204e-05	1.825e-05	0.0002	1.97e-05	1.97e-05	1.284e-05	2.688e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.411e-05	0	0	0	0	0	0	2.939e-05	0	0	0.571	0.06164	T	0.108	0.37589	T	0.02	0.18235	B	0.034	0.22546	B	0.358904	0.04291	N	1.467820	1	0.08975	N	0.09	0.08384	N	.	.	.	-1.57	0.37955	N	0.063	0.03613	-1.0063	0.28065	T	0.049	0.21065	T	9	0.029720813	0.01098	T	0.003526	0.08000	T	0.015	0.02232	0.343	0.33626	0.0401082797425	0.02173	0.12336306123265686	0.12262	.	.	0.254927575588	0.04305	T	0.013989	0.11991	T	-0.313178	0.07470	T	-0.687635	0.06527	T	0.0311990430675906	0.02178	T	0.476552	0.14308	T	0.021541992	0.00762	0.033423174	0.02234	0.021541992	0.00761	0.033423174	0.02234	-2.906	0.09203	T	.	.	0.069	0.07745	B	.;.	.;.	-0.936457	0.00866	0.031	0.33767115446857243	0.02029	0.00685	0.02933	N	AEFBI	0.028641	0.02562	N	-1.81436154597329	0.00511	0.02199043	-1.91188426517866	0.00464	0.0205293	0.995653342384456	0.34247	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.57	-9.14	0.00598	-1.050000	0.03621	-1.253000	0.05900	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1056:0.2072:0.0:0.6871	9.840	0.40160	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	.	.	.	.	.	.	.	.	0.08333	751.83	73	chr22	25041010	.	C	T	751.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=280;ExcessHet=0;FS=3.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.479;SOR=1.134	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,113,1359	5	0	1	0
chr22	25952331	25952331	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon38:c.G5881A:p.V1961M,MYO18B:NM_032608:exon38:c.G5878A:p.V1960M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2126142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.473	0.118445661494	.	.	4.955e-05	0	0.0001	0.0004	0	0	0	7.612e-05	3.23e-05	5	154602	rs776608247	2.398e-05	2.463e-05	1.772e-05	3.031e-05	0.0003	1.741e-05	1.541e-05	0.0002	0.0002	0	2.249e-05	0	0.0003	0	0	4.5e-06	0.0002	7.014e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0004	8.14e-06	5.14e-06	6.837e-05	2.861e-05	2.406e-05	0	0	0	0.0004	0	0	0	0.0005	0	0.003	0.68238	D	0.025	0.56192	D	0.993	0.65571	D	0.623	0.51505	P	0.000183	0.48115	D	0.084271	0.998816	0.45492	D	2.445	0.70938	M	-2.35	0.88220	D	-2.57	0.55501	D	0.494	0.52740	0.777	0.94129	D	0.817	0.93830	D	10	0.26021194	0.43468	T	0.118446	0.79849	D	0.473	0.76619	0.13	0.03494	0.927139865977	0.92639	0.4655588356017486	0.46474	0.346571087648	0.36563	0.563602864742	0.47776	T	0.127978	0.45535	T	-0.0813964	0.39489	T	0.00278743	0.70516	D	0.534000039100647	0.33881	D	0.941306	0.78096	D	0.27172554	0.50243	0.29500327	0.55531	0.27172554	0.50243	0.29500327	0.55530	-10.837	0.78756	D	.	.	0.361	0.60254	A	.;.;.	.;.;.	5.063327	0.84400	28.3	0.99896940157652381	0.96971	0.98785	0.86822	D	AEFDGBHI	0.923904	0.90111	D	0.783576473737749	0.85067	8.467239	0.765846017886494	0.87336	9.18701	0.999999999999999	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	9.345000	0.96456	11.675000	0.94150	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:0.0:1.0:0.0	18.362	0.90321	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1480.83	104	chr22	25952331	.	G	A	1480.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=276;ExcessHet=0;FS=2.551;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.528;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	5	0	1	0
chr22	28094109	28094109	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon12:c.G3903C:p.E1301D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.015119169129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752887321	8.581e-06	8.209e-06	7.055e-06	1.015e-05	3.169e-05	4.58e-06	3.61e-06	4.69e-06	3.42e-06	3.169e-05	0	0	0	0	0	9.271e-06	1.725e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.287	0.29959	T	0.861	0.92824	T	0.266	0.31648	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999892	0.50595	D	1.79	0.46772	L	-2.52	0.89363	D	-0.38	0.54864	N	0.552	0.57775	-0.5342	0.67382	T	0.370	0.72932	T	10	0.20138353	0.36219	T	0.015119	0.35666	T	0.468	0.76289	0.221	0.14371	0.370051654043	0.36618	0.417855586631884	0.41701	.	.	0.684494137764	0.64914	T	0.008295	0.40634	T	0.143231	0.68632	D	-0.0320351	0.68233	D	0.862507939338684	0.51281	D	0.952005	0.82322	D	0.16308385	0.36426	0.12747148	0.30685	0.16308385	0.36426	0.12747148	0.30684	-5.237	0.39315	T	.	.	0.158	0.55706	B	.;.;.	.;.;.	2.904610	0.38512	20.8	0.99736936877185134	0.83192	0.94146	0.60251	D	AEFDGI	0.457248	0.50877	N	-0.28175293321749	0.29852	1.659241	-0.0912417734990299	0.35752	2.072105	0.801144008797942	0.24188	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.69	3.57	0.40014	1.490000	0.35181	0.433000	0.18345	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.995000	0.73285	0.0:0.7766:0.0:0.2234	9.254	0.36731	941	0.13089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	679.83	35	chr22	28094109	.	C	G	679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.166;DP=231;ExcessHet=0;FS=5.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.965;SOR=0.278	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	5	0	1	0
chr22	28800510	28800510	-	GCC	exonic	XBP1	.	nonframeshift insertion	XBP1:NM_001079539:exon1:c.14_15insGGC:p.A7_P8insA,XBP1:NM_005080:exon1:c.14_15insGGC:p.A7_P8insA	.	424	1086	11	1	0	13	0.00594966	.	.	.	1245549	Autosomal_dominant_polycystic_liver_disease	Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	.	0.0035	0.0205	0	0	0	0.0049	0	0.0027	0.0005379	14	26028	rs528996789	0.0046	0.0043	0.0047	0.0044	0.0233	0.0045	0.0044	0.0218	0.0212	0.0233	0.0020	0.0003	0.0005	0.0005	0.0026	0.0046	0.0051	0.0025	0.0087	0.0087	0.0093	0.0080	0.0225	0.0083	0.0081	0.0213	0.0208	0.0225	0	0.0035	0	0.0002	0.0006	0.0068	0.0044	0.0085	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007559	0.017241	0.007396	0.009202	0.000000	0.000000	0.003425	0.008197	0.08333	427.79	34	chr22	28800510	.	T	TGCC	427.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.307;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.48;SOR=0.821	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1089	5	0	1	0
chr22	29059146	29059146	G	A	exonic	C22orf31	.	nonsynonymous SNV	C22orf31:NM_015370:exon3:c.C469T:p.R157C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00763035627615	.	.	1.667e-05	0	0	0.0001	0	0	0	6.44e-05	1.29e-05	2	154602	rs527877688	2.056e-05	2.052e-05	1.772e-05	2.342e-05	0.0005	1.458e-05	1.266e-05	0.0001	7.56e-05	3e-05	0	0	5.04e-05	0	0.0005	1.35e-05	1.658e-05	9.312e-05	6.567e-06	6.562e-06	1.285e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	0.107	0.29554	T	0.12	0.35970	T	0.002	0.09854	B	0.003	0.08700	B	0.704831	0.06224	N	1.143940	0.995748	0.23212	N	0	0.06538	N	1.47	0.31987	T	-2.29	0.50992	N	0.074	0.04790	-1.0073	0.27758	T	0.025	0.10464	T	10	0.018617183	0.00407	T	0.00763	0.20246	T	0.100	0.28662	0.306	0.27646	0.0920862733494	0.08535	0.023310560540868948	0.02283	0.023200147612	0.02356	.	.	.	0.030782	0.21738	T	-0.547467	0.00302	T	-0.732026	0.04236	T	0.0459732753338038	0.04779	T	0.661834	0.27067	T	0.07079495	0.15623	0.058837842	0.10942	0.07079495	0.15622	0.058837842	0.10941	-5.34	0.40337	T	.	.	0.084	0.09578	B	.	.	-0.262062	0.02787	0.380	0.80910278116112944	0.13427	0.01643	0.05285	N	AEFDGBCI	0.037971	0.05303	N	-1.45945412050339	0.02143	0.09432615	-1.5373523908034	0.02064	0.09438627	0.999999999961415	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.64	-11.3	0.00084	-3.914000	0.00378	-5.854000	0.01574	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.402:0.1684:0.1118:0.3177	1.089	0.01557	525	0.74024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	871.83	38	chr22	29059146	.	G	A	871.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.285;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	5	0	1	0
chr22	29225184	29225184	G	A	exonic	EMID1	.	nonsynonymous SNV	EMID1:NM_001267895:exon4:c.G365A:p.R122Q,EMID1:NM_133455:exon4:c.G371A:p.R124Q	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0031	0.00219649	0.0028	0.0008	0.0023	0.0001	0.0002	0.0041	0.0022	0.0013	0.0029042	449	154602	rs34772704	0.0039	0.0039	0.0039	0.0038	0.0149	0.0038	0.0037	0.0124	0.0114	0.0008	0.0029	0.0064	0.0001	0.0005	0.0149	0.0043	0.0044	0.0012	0.0027	0.0027	0.0029	0.0025	0.0043	0.0025	0.0024	0.0036	0.0035	0.0006	0	0.0043	0.0072	0	0.0002	0.0102	0.0040	0.0076	0.0014	0.0	0.91255	D	0.032	0.92824	D	0.999	0.77913	D	0.99	0.78936	D	0.014239	0.28595	N	0.164651	1	0.08975	N	.	.	.	-2.52	0.89363	D	-1.24	0.37759	N	0.304	0.39254	-0.0769	0.80622	T	0.677	0.88826	D	10	0.009060919	0.00205	T	.	.	.	0.302	0.62290	.	.	0.888450003574	0.88734	0.38114820571821273	0.38029	0.150594837519	0.16984	0.326098054647	0.14344	T	0.039873	0.25338	T	-0.314583	0.07350	T	-0.222042	0.52540	T	0.0506707974209535	0.05618	T	0.931307	0.75551	D	.	.	.	.	.	.	.	.	-8.339	0.63358	D	.	.	0.079	0.10014	B	.;.;.;.	.;.;.;.	3.680872	0.52392	23.2	0.99910428315345046	0.98022	0.54391	0.29604	D	AEFBCI	0.139462	0.26107	N	0.107606616268125	0.46818	2.916375	-0.0761547724000783	0.36379	2.116327	0.999694580982243	0.41870	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.62	1.41	0.21461	1.763000	0.38090	1.953000	0.29896	0.676000	0.76740	0.178000	0.24038	0.501000	0.25205	0.278000	0.23967	0.2862:0.0:0.7138:0.0	6.755	0.22692	438	0.80235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.010101	0.021739	0.014620	0.000000	0.008621	0.015244	0.003788	0.08333	830.83	34	chr22	29225184	.	G	A	830.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=246;ExcessHet=0;FS=1.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.287;SOR=0.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	5	0	1	0
chr22	29311919	29311919	A	G	exonic	GAS2L1	.	nonsynonymous SNV	GAS2L1:NM_001362985:exon6:c.A1468G:p.S490G,GAS2L1:NM_006478:exon6:c.A1468G:p.S490G,GAS2L1:NM_152236:exon6:c.A1468G:p.S490G	.	425	1082	14	1	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0055	0.00279553	0.0059	0.0009	0.0030	0	0.0032	0.0092	0.0025	0.0024	0.005802	897	154602	rs34124440	0.0086	0.0085	0.0087	0.0084	0.0103	0.0084	0.0084	0.0101	0.0100	0.0013	0.0027	0.0029	0	0.0038	0.0092	0.0103	0.0060	0.0024	0.0048	0.0048	0.0054	0.0042	0.0087	0.0045	0.0044	0.0081	0.0079	0.0015	0	0.0018	0.0023	0	0.0018	0	0.0087	0.0066	0.0023	.	.	.	0.385	0.15746	T	0.462	0.36386	P	0.084	0.29270	B	0.044205	0.23661	U	0.327933	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.129	0.15888	-1.0523	0.13763	T	0.066	0.27087	T	8	0.005847901	0.00131	T	.	.	.	.	.	.	.	0.690431008816	0.68777	0.2429284842913672	0.24206	.	.	0.545373618603	0.45204	T	0.021971	0.17018	T	-0.331879	0.05970	T	-0.238467	0.50947	T	0.00326365972372707	0.00034	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08754	B	.;.;.;.	.;.;.;.	2.810066	0.36988	20.4	0.78222028862419413	0.12207	0.62802	0.31892	D	AEFDBI	0.011544	0.00104	N	-0.143338478756313	0.35520	2.041199	-0.0899376671974836	0.35806	2.075893	0.999991423381804	0.74766	0.722319	0.85440	0	0.578056	0.33634	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.6	2.47	0.29113	1.470000	0.34963	3.919000	0.40458	0.691000	0.84096	0.871000	0.30813	1.000000	0.68203	0.943000	0.48514	0.815:0.185:0.0:0.0	9.041	0.35483	480	0.77422	.;.;.;.	.	.	.	.	rs34124440	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005102	0.010870	0.011696	0.000000	0.017241	0.018293	0.003788	0.08333	1064.83	33	chr22	29311919	.	A	G	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.009;DP=269;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.726;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	5	0	1	0
chr22	29441706	29441706	C	A	exonic	RFPL1	.	nonsynonymous SNV	RFPL1:NM_021026:exon2:c.C538A:p.H180N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00374394104514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	4.365	0.98522	H	-0.41	0.69413	T	-6.89	0.93257	D	0.328	0.36884	-0.3876	0.72417	T	0.606	0.86004	D	9	0.55853474	0.64656	D	0.003744	0.08682	T	0.193	0.47281	0.717	0.85230	0.826106357596	0.82445	0.36897258691058216	0.36811	0.78101997187	0.65293	0.498826384544	0.38664	T	0.343092	0.71178	T	-0.0100579	0.50256	T	-0.252224	0.49596	T	0.91174635132139	0.56741	D	0.859414	0.55137	D	0.7971535	0.83724	0.6523276	0.79654	0.7971535	0.83726	0.6523276	0.79654	-9.359	0.69978	D	.	.	0.292	0.52376	B	.	.	2.269362	0.29007	17.98	0.97213652359348823	0.32869	0.02608	0.07182	N	AEFGBI	0.050186	0.08747	N	-0.0205192566999614	0.40927	2.439075	-0.40682208456624	0.24796	1.359899	2.80659648628899E-4	0.06300	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	0.951	0.951	0.18703	0.118000	0.15436	-0.783000	0.07446	0.405000	0.20585	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:1.0:0.0:0.0	7.709	0.27830	526	0.73951	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|Ret finger protein-like, SPRY/PRY 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	.	.	.	.	.	.	.	.	0.08333	5021.83	212	chr22	29441706	.	C	A	5021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.881;DP=708;ExcessHet=0;FS=2.344;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-0.741;QD=14.95;ReadPosRankSum=-1.09;SOR=0.845	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	0
chr22	30244859	30244859	C	T	exonic	LIF	.	nonsynonymous SNV	LIF:NM_002309:exon2:c.G94A:p.A32T	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0328600541104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868113406	1.026e-05	1.026e-05	9.529e-06	1.1e-05	6.956e-05	6.16e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	7.194e-06	1.656e-05	6.956e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.051	0.47828	T	0.999	0.77913	D	0.971	0.72444	D	0.394256	0.13213	N	0.676152	0.999981	0.54805	D	0.805	0.20218	L	-1.1	0.77336	T	-1.37	0.33998	N	0.24	0.27077	-0.3891	0.72371	T	0.363	0.72407	T	10	0.29394996	0.46968	T	0.03286	0.54569	D	0.342	0.66392	0.588	0.71623	0.747388757764	0.74511	0.3248125975660578	0.32394	0.335954471646	0.35598	0.537433385849	0.44083	T	0.458941	0.79672	T	-0.305619	0.08140	T	-0.474123	0.25072	T	0.589211642742157	0.35975	D	0.670833	0.27951	T	0.2109039	0.43400	0.1659946	0.38371	0.2109039	0.43400	0.1659946	0.38371	-3.331	0.14139	T	.	.	0.112	0.21913	B	.	.	3.942338	0.57693	23.9	0.99906975889638261	0.97726	0.32848	0.24685	N	AEFDBCIJ	0.077441	0.15603	N	0.265366969166108	0.54402	3.605931	0.234991422144306	0.51799	3.359461	0.999995248497518	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.584781	0.30282	0	0.620976	0.48614	0	.	.	4.41	2.17	0.26736	0.921000	0.28338	2.322000	0.32141	-0.182000	0.10109	0.728000	0.28902	0.984000	0.30665	0.968000	0.53726	0.1953:0.5062:0.189:0.1095	2.364	0.04051	350	0.85473	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	36	chr22	30244859	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=266;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.317;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	5	0	1	0
chr22	30407134	30407134	A	G	exonic	SEC14L2	.	nonsynonymous SNV	SEC14L2:NM_001291932:exon3:c.A52G:p.I18V,SEC14L2:NM_012429:exon4:c.A214G:p.I72V,SEC14L2:NM_033382:exon4:c.A214G:p.I72V	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00386061897157	0.0005	0.000199681	0.0004	0.0003	0.0006	0	0	0.0006	0.0011	0	0.0004334	67	154602	rs140683265	0.0006	0.0006	0.0007	0.0006	0.0017	0.0006	0.0006	0.0009	0.0007	0.0002	0.0005	0	0	1.877e-05	0.0017	0.0008	0.0006	4.637e-05	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0001	0	0	0	0	0.0007	0.0014	0	0.312	0.25355	T	0.399	0.17064	T	0.0	0.02946	B	0.0	0.04355	B	0.965498	0.07744	N	1.015360	1	0.08975	N	-0.725	0.01781	N	-0.14	0.65006	T	-0.52	0.17003	N	0.122	0.12055	-1.0390	0.17617	T	0.092	0.35065	T	10	0.019221574	0.00427	T	0.003861	0.09055	T	0.089	0.25827	.	.	0.481988042695	0.47829	0.34763929904002394	0.34677	.	.	0.262286782265	0.05165	T	0.033093	0.22767	T	-0.507525	0.00518	T	-0.59335	0.13378	T	0.00620187701461043	0.00069	T	0.0146319	0.00080	T	0.05577956	0.10886	0.035369635	0.02775	0.05577956	0.10886	0.035369635	0.02775	-4.824	0.35914	T	.	.	0.066	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.466262	0.08360	5.111	0.83690425780190292	0.14865	0.06016	0.11981	N	AEFBI	0.099310	0.19993	N	-0.936070253052257	0.10007	0.4762261	-0.895333598441994	0.12203	0.6263994	0.833568530139735	0.24736	0.706548	0.73137	0	0.588066	0.40923	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	4.67	-1.66	0.07824	-0.594000	0.05828	0.218000	0.16040	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2032:0.244:0.2059:0.3469	0.279	0.00225	300	0.87974	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1239.83	33	chr22	30407134	.	A	G	1239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.401;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.441;SOR=0.702	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1250,0,1158	5	0	1	0
chr22	30409454	30409454	C	T	exonic	SEC14L2	.	nonsynonymous SNV	SEC14L2:NM_001204204:exon5:c.C299T:p.P100L,SEC14L2:NM_001291932:exon6:c.C386T:p.P129L,SEC14L2:NM_012429:exon7:c.C548T:p.P183L,SEC14L2:NM_033382:exon7:c.C548T:p.P183L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.24738399617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	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	1	0.81001	D	3.96	0.96509	H	-0.41	0.69413	T	-9.2	0.98244	D	0.989	0.99670	0.568	0.91475	D	0.640	0.87419	D	10	0.92882353	0.92225	D	0.247384	0.88967	D	0.782	0.92746	0.743	0.87486	0.891102082112	0.89002	0.8989134874145002	0.89863	.	.	0.639240205288	0.58456	T	0.852765	0.96664	D	0.404423	0.90167	D	0.343149	0.90044	D	0.999967217445374	0.99918	D	0.968203	0.95172	D	0.9758744	0.98780	0.94916356	0.98349	0.9758744	0.98780	0.94916356	0.98349	-15.775	0.97405	D	.	.	0.976	0.90342	P	.;.;.;.;.;.	.;.;.;.;.;.	5.185832	0.86964	29.1	0.99876896433954709	0.95410	0.99242	0.93326	D	AEFBI	0.919514	0.89015	D	0.744087842614015	0.82518	7.782728	0.720168168503257	0.83909	8.147346	0.999999999999962	0.74766	0.722319	0.85440	0	0.601575	0.49859	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.06	5.06	0.67838	7.507000	0.80548	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.202	0.89776	298	0.88068	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1030.83	34	chr22	30409454	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.419;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.401;SOR=0.648	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1041,0,1115	5	0	1	0
chr22	31125364	31125364	G	C	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G625C:p.V209L,INPP5J:NM_001284286:exon3:c.G424C:p.V142L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.114375843303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.007	0.91255	D	0.273	0.22154	T	0.003	0.11197	B	0.003	0.08700	B	0.452495	0.12490	N	0.707125	1	0.08975	N	0.695	0.17993	N	-4.49	0.97650	D	-0.31	0.58248	N	0.073	0.05162	-0.0600	0.80993	T	0.716	0.90254	D	9	0.057014585	0.06483	T	0.114376	0.79320	D	0.163	0.42028	0.206	0.12216	0.578877614382	0.57557	0.0997879866618167	0.09909	.	.	0.304608523846	0.11092	T	0.086508	0.37740	T	0.015912	0.53829	T	-0.21492	0.53223	T	0.0520812674995396	0.05861	T	0.723828	0.33737	T	0.065686174	0.14063	0.046407927	0.06463	0.065686174	0.14063	0.046407927	0.06463	-3.59	0.17713	T	.	.	0.117	0.23675	B	.;.;.	.;.;.	1.145700	0.15336	11.77	0.96326702903690908	0.29433	0.03114	0.08053	N	AEFDBI	0.076279	0.15341	N	-0.903225877456388	0.10766	0.5161091	-0.94399634508831	0.11063	0.5612893	0.999278723812289	0.38974	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.78	-2.81	0.05459	-0.183000	0.09707	-0.025000	0.12872	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.795000	0.37519	0.3688:0.1305:0.2884:0.2123	0.651	0.00773	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1225.83	35	chr22	31125364	.	G	C	1225.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.764;DP=266;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.888;SOR=0.869	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.08333	756.83	51	chr22	31140088	.	A	T	756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.081;DP=256;ExcessHet=0;FS=4.386;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.023;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	5	0	1	0
chr22	31344681	31344681	G	A	exonic	PATZ1	.	nonsynonymous SNV	PATZ1:NM_014323:exon1:c.C922T:p.R308W,PATZ1:NM_032050:exon1:c.C922T:p.R308W,PATZ1:NM_032051:exon1:c.C922T:p.R308W,PATZ1:NM_032052:exon1:c.C922T:p.R308W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.111583891232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.011	0.66756	D	1.0	0.90584	D	0.983	0.80445	D	0.000005	0.62929	D	0.062763	1	0.81001	D	0.695	0.17993	N	-1.19	0.78427	T	-5.65	0.87300	D	0.419	0.52297	0.011	0.82486	D	0.444	0.78124	T	10	0.60692155	0.67227	D	0.111584	0.78942	D	0.458	0.75619	0.366	0.37361	0.686668411934	0.68398	0.5931197625829592	0.59241	2.10714713315	0.94902	0.727696537971	0.71169	T	0.48792	0.81377	T	0.133807	0.67730	D	-0.0455713	0.67325	D	0.992131412029266	0.82542	D	0.990021	0.96919	D	0.56576717	0.70828	0.47209516	0.69395	0.56576717	0.70829	0.47209516	0.69396	-9.394	0.74775	D	.	.	0.672	0.81289	P	.;.;.;.	.;.;.;.	5.781985	0.93528	33	0.99920639938990641	0.98721	0.79019	0.39079	D	AEFDGBHCI	0.864145	0.78287	D	0.490827048252541	0.66553	4.965049	0.518128254692248	0.69212	5.328049	0.999999999999997	0.74766	0.542737	0.22433	0	0.504199	0.08210	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.78	4.78	0.60666	4.916000	0.63061	8.600000	0.77723	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.809	0.85577	215	0.91651	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2002.83	33	chr22	31344681	.	G	A	2002.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.71;DP=301;ExcessHet=0;FS=2.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-1.801;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	5	0	1	0
chr22	32043316	32043316	C	T	exonic	SLC5A1	.	nonsynonymous SNV	SLC5A1:NM_000343:exon1:c.C35T:p.A12V	Glucose/galactose malabsorption, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	493545	not_provided|not_specified|Congenital_glucose-galactose_malabsorption	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011731,MedGen:C0268186,OMIM:606824,Orphanet:35710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.0850892988681	0.0007	0.000399361	0.0010	9.812e-05	0.0003	0	0	0.0014	0.0023	0.0009	0.0008667	134	154602	rs150288967	0.0006	0.0006	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0008	8.961e-05	0.0004	0.0145	2.519e-05	0	0.0016	0.0003	0.0014	0.0010	0.0009	0.0009	0.0009	0.0009	0.0012	0.0008	0.0007	0.0008	0.0006	4.81e-05	0	0.0012	0.0199	0	9.409e-05	0.0068	0.0006	0.0024	0.0008	0.061	0.37118	T	0.406	0.14725	T	0.001	0.07471	B	0.001	0.04355	B	0.098823	0.02528	N	1.733900	1	0.08975	N	1.905	0.50856	L	-2.06	0.85875	D	-1.46	0.35792	N	0.061	0.03283	-0.7007	0.60404	T	0.465	0.79317	T	10	0.004654914	0.00097	T	0.085089	0.74461	D	0.505	0.78662	.	.	0.747006263103	0.74472	0.266694549339179	0.26582	0.463755388892	0.45870	0.317358285189	0.13020	T	0.090024	0.38498	T	-0.18738	0.22644	T	-0.0982831	0.63530	T	0.0174199961141006	0.00479	T	0.330167	0.06908	T	0.0670848	0.14496	0.11304056	0.27278	0.058023643	0.11621	0.14435951	0.34274	-3.989	0.23639	T	.	.	0.085	0.10352	B	.	.	1.013699	0.13930	10.49	0.99136788943025422	0.53410	0.08302	0.14249	N	AEFDBHCI	0.094886	0.19179	N	-0.763499697619612	0.14269	0.7094192	-0.767030968859746	0.15305	0.8042273	0.953056415919183	0.28052	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	3.73	0.41982	1.107000	0.30724	-0.250000	0.10515	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.897:0.0:0.103	8.748	0.33760	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	791.83	35	chr22	32043316	.	C	T	791.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.137;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	5	0	1	0
chr22	32447330	32447330	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon3:c.A256G:p.S86G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00527384241246	0.0016	0.000798722	0.0016	0.0003	0.0003	0	0.0002	0.0027	0.0011	6.245e-05	0.0016106	249	154602	rs143287045	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0008	0.0064	2.519e-05	0.0002	0.0007	0.0022	0.0019	2.324e-05	0.0015	0.0015	0.0016	0.0013	0.0027	0.0013	0.0013	0.0024	0.0022	0.0005	0	0.0004	0.0040	0	0	0.0034	0.0027	0.0024	0.0002	0.399	0.10517	T	0.048	0.48594	D	0.011	0.15914	B	0.014	0.16862	B	0.016282	0.28016	N	0.439260	1	0.81001	D	0.805	0.20218	L	3.26	0.06681	T	-1.75	0.41428	N	0.148	0.15046	-0.9569	0.39753	T	0.014	0.05753	T	10	0.008373916	0.00190	T	0.005274	0.13464	T	0.024	0.04979	.	.	0.220303561663	0.21668	0.2959185711020405	0.29504	0.0648718899618	0.07242	0.256910830736	0.04530	T	0.01198	0.10603	T	-0.648563	0.00074	T	-0.700667	0.05789	T	0.00292648101636052	0.00031	T	0.424358	0.11346	T	0.14329569	0.32940	0.12448341	0.30003	0.14329569	0.32940	0.12448341	0.30003	-6.541	0.50602	T	.	.	0.082	0.08705	B	.;.	.;.	2.490487	0.32130	18.95	0.98766492585533949	0.45893	0.67817	0.33571	D	AEFBI	0.130416	0.24897	N	-0.340714388066574	0.27615	1.51652	-0.132733592340394	0.34080	1.956374	0.00646163299940143	0.11224	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.87	4.82	0.61641	1.023000	0.29668	0.529000	0.19232	0.665000	0.62972	0.971000	0.34370	0.443000	0.24914	0.974000	0.55675	0.0:0.0:0.167:0.833	10.208	0.42300	602	0.67834	Lipid-binding serum glycoprotein, N-terminal|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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.83	34	chr22	32447330	.	T	C	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.225;DP=227;ExcessHet=0;FS=2.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.115;SOR=1.219	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1310	5	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	966.83	60	chr22	36227655	.	C	A	966.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.925;DP=474;ExcessHet=0;FS=243.156;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.227;SOR=8.409	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1406	5	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	81.06	133	chr22	36265782	.	G	T	81.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.59;DP=740;ExcessHet=0.4139;FS=125.08;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.17;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,13:125:43:0|1:36265782_G_T:43,0,4390:36265782	4	0	2	0
chr22	36265788	36265788	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G898T:p.V300L,APOL1:NM_001362927:exon5:c.G898T:p.V300L,APOL1:NM_001136540:exon6:c.G952T:p.V318L,APOL1:NM_003661:exon6:c.G952T:p.V318L,APOL1:NM_145343:exon7:c.G1000T:p.V334L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00139699107648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.252	0.36497	T	0.606	0.42139	P	0.287	0.41149	B	0.021435	0.26835	N	0.339041	1	0.08975	N	1.37	0.34214	L	3.34	0.06063	T	-2.1	0.47852	N	0.136	0.16028	-1.0577	0.12337	T	0.023	0.09604	T	10	0.42974234	0.57411	T	0.001397	0.02062	T	0.080	0.23350	0.79	0.91217	0.240491677333	0.23641	0.16720390685349407	0.16640	0.0932440907833	0.10540	0.259988605976	0.04889	T	0.018626	0.14980	T	-0.263696	0.12470	T	-0.616557	0.11457	T	0.400632858276367	0.28965	T	0.920908	0.71352	D	0.070749275	0.15611	0.06919031	0.14548	0.070749275	0.15611	0.06919031	0.14547	-3.674	0.18935	T	.	.	0.165	0.38354	B	.;.;.;.;.	.;.;.;.;.	-0.075038	0.03791	0.800	0.85417854666260362	0.15880	0.03431	0.08564	N	AEFDBI	0.283787	0.39681	N	-0.964199435183247	0.09377	0.4435163	-1.15603712399998	0.06660	0.3213267	0.433606993183405	0.20394	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-0.39	0.11830	-0.264000	0.08683	-2.056000	0.04279	-2.667000	0.00218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2601:0.0:0.7399:0.0	7.931	0.29068	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	37.83	133	chr22	36265788	.	G	T	37.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.41;DP=729;ExcessHet=0;FS=39.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.58;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,13:123:48:0|1:36265782_G_T:48,0,4469:36265782	5	0	1	0
chr22	36282756	36282756	C	T	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon41:c.G5795A:p.R1932H	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3310687	Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_17|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0015912,MedGen:C5200934,OMIM:155100,Orphanet:182050|MONDO:MONDO:0011350,MedGen:C1863659,OMIM:603622,Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.127744899216	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291058743	3.423e-06	6.84e-06	5.45e-06	1.376e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.19569	T	0.311	0.19660	T	0.005	0.12996	B	0.003	0.08700	B	0.000591	0.43095	D	0.082362	0.999978	0.53665	D	0.975	0.24501	L	-2.04	0.85703	D	-1.66	0.39692	N	0.399	0.43995	-0.3182	0.74472	T	0.450	0.78473	T	10	0.2686801	0.44389	T	0.127745	0.80959	D	0.277	0.59375	0.303	0.27164	0.761549345286	0.75938	0.5606075345240522	0.55987	0.629646260118	0.56991	0.76436829567	0.76580	T	0.352261	0.71972	T	0.0732284	0.61238	D	-0.132589	0.60753	T	0.746652901172638	0.43099	D	0.949755	0.80719	D	0.2827241	0.51308	0.19961357	0.43851	0.2827241	0.51308	0.19961357	0.43850	-5.584	0.42646	T	.	.	0.211	0.43909	B	.	.	4.122584	0.61634	24.4	0.99863821814414122	0.94184	0.94296	0.60715	D	AEFBCI	0.794838	0.72243	D	0.0144426405003814	0.42513	2.562836	0.193188392274141	0.49473	3.150041	0.999999994253702	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.85	4.85	0.62375	6.414000	0.73231	4.637000	0.44139	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.356	0.90299	492	0.76569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	800.83	35	chr22	36282756	.	C	T	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=245;ExcessHet=0;FS=1.118;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.271;SOR=0.977	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1415	5	0	1	0
chr22	36501294	36501294	G	A	exonic	FOXRED2	.	nonsynonymous SNV	FOXRED2:NM_001363041:exon4:c.C893T:p.S298L,FOXRED2:NM_001363042:exon4:c.C893T:p.S298L,FOXRED2:NM_001102371:exon5:c.C1163T:p.S388L,FOXRED2:NM_024955:exon5:c.C1163T:p.S388L	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0875809009696	0.0002	0.000199681	0.0001	0.0007	8.637e-05	0	0	7.492e-05	0	6.058e-05	9.7e-05	15	154602	rs147376195	0.0001	0.0001	0.0001	9.488e-05	0.0004	8.982e-05	8.465e-05	0.0003	0.0002	0.0004	0.0002	3.826e-05	0	0	0	0.0001	0.0002	6.956e-05	0.0003	0.0003	0.0002	0.0003	0.0011	0.0002	0.0002	0.0007	0.0006	0.0004	0	0.0011	0	0	0	0	5.88e-05	0.0009	0.0002	0.003	0.68238	D	0.032	0.53426	D	1.0	0.90584	D	0.976	0.73562	D	0.000085	0.51296	D	0.175421	1	0.81001	D	3.085	0.87354	M	2.28	0.17271	T	-5.42	0.85247	D	0.914	0.91621	-0.8512	0.51885	T	0.144	0.46732	T	10	0.60257816	0.66995	D	0.087581	0.74964	D	0.442	0.74518	.	.	0.547935346631	0.54449	0.9472681338565482	0.94709	0.562103597048	0.52702	0.766009569168	0.76826	T	0.070004	0.33852	T	0.0170249	0.53978	T	0.11668	0.78014	D	0.726331889629364	0.42021	D	0.969603	0.89085	D	0.49772847	0.66962	0.5353862	0.73152	0.49772847	0.66962	0.5353862	0.73152	-11.824	0.83983	D	.	.	0.307	0.53557	B	.;.;.	.;.;.	5.065860	0.84460	28.3	0.99904241159926555	0.97502	0.98348	0.81871	D	AEFDBI	0.785714	0.71601	D	0.745532479767453	0.82611	7.806178	0.6500669339713	0.78616	6.912119	0.999999241029105	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	7.118000	0.76763	9.961000	0.82795	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.1415:0.8585:0.0	15.056	0.71581	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1363.83	37	chr22	36501294	.	G	A	1363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.857;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	5	0	1	0
chr22	36875833	36875833	C	T	exonic	NCF4	.	stopgain	NCF4:NM_013416:exon8:c.C808T:p.R270X	.	.	.	.	.	.	.	.	.	.	YES	649486	Chronic_granulomatous_disease|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3	MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379|MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.100	.	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.000194	30	154602	rs201021542	9.782e-05	9.85e-05	9.257e-05	0.0001	0.0001	8.444e-05	7.921e-05	8.851e-05	8.237e-05	5.974e-05	0	0.0005	0	1.872e-05	0	0.0001	6.623e-05	9.275e-05	0.0001	0.0001	0.0001	6.726e-05	0.0002	6.512e-05	5.323e-05	0.0001	7.894e-05	4.824e-05	0	0	0.0006	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.185165	0.16996	N	0.526148	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11826	0.66197	D	0.305546	0.88452	D	0.376331925392151	0.28041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.233148	0.06140	2.588	0.9941647651264196	0.63549	0.13428	0.17850	N	AEFDGBI	0.058891	0.11083	N	0.372349394227522	0.59930	4.176583	0.022198391019518	0.40748	2.436797	0.999243833860815	0.38873	0.562547	0.31514	0	0.653731	0.59785	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.96	3.96	0.45097	-0.094000	0.11060	-0.871000	0.07103	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	11.898	0.51950	753	0.51500	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2116.83	133	chr22	36875833	.	C	T	2116.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.12;DP=573;ExcessHet=0;FS=1.091;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.172;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1434:.	5	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.08333	969.83	78	chr22	37723190	.	G	A	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.35;DP=256;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.015;SOR=1.284	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1206	5	0	1	0
chr22	38087167	38087167	-	CATGGAGGTCATGGAGGTCATGGAGGT	exonic	BAIAP2L2	.	nonframeshift insertion	BAIAP2L2:NM_025045:exon11:c.1215_1216insACCTCCATGACCTCCATGACCTCCATG:p.M405_S406insTSMTSMTSM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.476e-05	1.703e-05	1.615e-05	1.341e-05	9.225e-05	8.23e-06	6.34e-06	2.444e-05	1.277e-05	0	0	0	9.225e-05	0	0	1.259e-05	2.625e-05	1.617e-05	6.49e-05	6.975e-05	4.269e-05	8.771e-05	0.0005	2.728e-05	1.928e-05	9.168e-05	3.751e-05	0	0	0	0	0.0005	0	0	9.927e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2453.0	94	chr22	38087167	.	A	ACATGGAGGTCATGGAGGTCATGGAGGT	2453.0	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.835;DP=365;ExcessHet=0.4139;FS=4.97;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.725;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:50,0:50:0:.:.:0,0,1283:.	2	0	1	3
chr22	38298905	38298905	G	A	exonic	CSNK1E;TPTEP2-CSNK1E	.	nonsynonymous SNV	CSNK1E:NM_001894:exon7:c.C766T:p.R256C,CSNK1E:NM_152221:exon7:c.C766T:p.R256C,TPTEP2-CSNK1E:NM_001289912:exon11:c.C766T:p.R256C	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.137560726497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	4.084e-06	1.375e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	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	4.4	0.98649	H	2.8	0.11082	T	-6.91	0.93329	D	0.879	0.87699	-0.6817	0.61293	T	0.152	0.48101	T	10	0.8728824	0.86564	D	0.137561	0.82006	D	0.407	0.71946	0.67	0.80803	0.783118566124	0.78111	0.9714520396320456	0.97145	2.85426414979	0.99028	0.909465909004	0.97419	D	0.816123	0.95455	D	0.271903	0.80611	D	0.152794	0.80360	D	0.99974113702774	0.98780	D	0.973003	0.90263	D	0.85525334	0.87727	0.6297124	0.78402	0.85525334	0.87728	0.6297124	0.78403	-12.351	0.86518	D	.	.	0.990	0.94130	P	.;.;.;.;.;.	.;.;.;.;.;.	6.436371	0.95208	34	0.99926838542805374	0.99103	0.95133	0.63559	D	ALL	0.909181	0.86547	D	0.925404993765464	0.92948	11.72643	0.764853083555475	0.87264	9.161916	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.67197	0.60751	0	0.714379	0.83352	0	.	.	4.95	2.85	0.32333	9.959000	0.99016	11.710000	0.94638	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0739:0.1363:0.7897:0.0	10.246	0.42519	326	0.86709	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1475.83	37	chr22	38298905	.	G	A	1475.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=280;ExcessHet=0;FS=0.724;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.414;SOR=0.59	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	5	0	1	0
chr22	38628888	38628890	AGA	-	exonic	FAM227A	.	nonframeshift deletion	FAM227A:NM_001384271:exon6:c.94_96del:p.S32del,FAM227A:NM_001013647:exon7:c.565_567del:p.S189del,FAM227A:NM_001291030:exon7:c.286_288del:p.S96del,FAM227A:NM_001384270:exon7:c.286_288del:p.S96del	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00359425	0.0034	0.0103	0.0049	0	0	0.0018	0	0.0043	0.0003842	10	26028	rs201151092	0.0010	0.0010	0.0010	0.0011	0.0078	0.0010	0.0010	0.0070	0.0067	0.0078	0.0011	0.0044	0.0021	4.06e-05	0.0069	0.0005	0.0022	0.0027	0.0031	0.0032	0.0032	0.0031	0.0086	0.0029	0.0028	0.0079	0.0076	0.0086	0	0.0017	0.0046	0.0015	0	0.0102	0.0006	0.0028	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001244	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	133.79	14	chr22	38628887	.	GAGA	G	133.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=118;ExcessHet=0;FS=10.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.876;SOR=3.236	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,890	5	0	1	0
chr22	38843393	38843393	C	T	exonic	NPTXR	.	nonsynonymous SNV	NPTXR:NM_014293:exon1:c.G466A:p.G156S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00299521	0.0030	0.0475	0.0035	0	0	0	0	0	0.0004463	69	154602	rs371614157	0.0003	0.0003	0.0003	0.0003	0.0122	0.0003	0.0003	0.0110	0.0106	0.0122	0.0007	0	3.504e-05	0	0	1.657e-05	0.0008	4.848e-05	0.0033	0.0033	0.0034	0.0033	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0012	0	0	0	0	1.475e-05	0.0024	0.0002	0.241	0.17643	T	0.262	0.22895	T	0.886	0.48745	P	0.147	0.34014	B	.	.	.	.	.	.	.	0.875	0.21512	L	2.63	0.12884	T	-1.15	0.29525	N	0.072	0.04547	-0.9954	0.31191	T	0.011	0.04181	T	8	0.0052942336	0.00116	T	.	.	.	0.035	0.08770	.	.	0.193865811164	0.18958	0.44651547796795604	0.44569	.	.	0.940173625946	0.99462	D	0.053534	0.29470	T	-0.573994	0.00210	T	-0.586891	0.13937	T	0.0259674924853044	0.01401	T	0.80002	0.44558	T	0.083890125	0.19393	0.20547804	0.44719	0.083890125	0.19392	0.20547804	0.44718	-5.841	0.44930	T	.	.	0.096	0.15430	B	.;.	.;.	2.997827	0.40049	21.1	0.99067671405386137	0.51645	0.83659	0.42762	D	ALL	0.269685	0.38591	N	-0.285315080954903	0.29714	1.650315	-0.289167653120627	0.28455	1.586676	0.999999999947713	0.74766	0.652421	0.48094	0	0.600433	0.49495	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	2.27	1.14	0.19817	2.412000	0.44263	2.550000	0.33259	0.462000	0.21616	0.973000	0.34540	0.991000	0.31484	0.937000	0.47636	0.0:0.6228:0.2312:0.1459	4.674	0.12086	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001063	0.005435	0.000000	0.000000	0.000000	0.000000	0.003205	0.000000	0.08333	510.83	34	chr22	38843393	.	C	T	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.034;SOR=0.784	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1007	5	0	1	0
chr22	39521955	39521955	A	T	exonic	ATF4	.	nonsynonymous SNV	ATF4:NM_001675:exon2:c.A409T:p.T137S,ATF4:NM_182810:exon3:c.A409T:p.T137S	.	431	1067	24	0	0	24	0.0111214	.	.	.	717458	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00667410026828	0.0052	0.00179712	0.0047	0.0018	0.0061	0	0.0017	0.0060	0.0066	0.0036	0.0044631	690	154602	rs150385569	0.0061	0.0061	0.0061	0.0061	0.0078	0.0060	0.0060	0.0070	0.0069	0.0014	0.0055	0.0009	2.582e-05	0.0015	0.0078	0.0071	0.0050	0.0039	0.0043	0.0042	0.0046	0.0039	0.0070	0.0040	0.0039	0.0064	0.0062	0.0015	0.0011	0.0041	0.0017	0	0.0010	0.0342	0.0070	0.0053	0.0020	0.134	0.26300	T	0.381	0.15939	T	0.016	0.17332	B	0.02	0.19048	B	0.769846	0.06591	N	1.103000	1	0.08975	N	1.23	0.30720	L	1.91	0.23283	T	-0.3	0.11913	N	0.064	0.03841	-0.9767	0.35749	T	0.042	0.18202	T	10	0.0032248497	0.00055	T	0.006674	0.17614	T	0.058	0.16647	.	.	0.186928172975	0.18263	0.06111295903092459	0.06051	0.00428377551654	0.00378	0.221920505166	0.01424	T	0.312835	0.68463	T	-0.672476	0.00053	T	-0.734317	0.04134	T	0.00465677136106539	0.00050	T	0.366763	0.08556	T	0.047641173	0.08178	0.046785593	0.06597	0.047641173	0.08177	0.046785593	0.06597	-3.407	0.15150	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.102907	0.05042	1.587	0.77322230035010009	0.11827	0.40688	0.26492	N	AEFDBHCI	0.576500	0.57847	D	-0.995582958516228	0.08698	0.4088086	-1.03882691337148	0.08941	0.4421766	0.999999029203516	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.74	-1.46	0.08338	0.170000	0.16476	0.795000	0.21604	-0.074000	0.16291	0.002000	0.15269	0.009000	0.19889	0.810000	0.38174	0.4681:0.1372:0.3947:0.0	6.421	0.20945	895	0.25842	.;.;.	MGAT3	Vagina	.	.	.	Likely benign	0	0	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	0.004940	0.005682	0.004076	0.000000	0.000000	0.000000	0.009868	0.007874	0.08333	2053.83	147	chr22	39521955	.	A	T	2053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=346;ExcessHet=0;FS=1.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.037;SOR=0.836	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	0
chr22	39641031	39641031	A	G	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon6:c.A905G:p.D302G,CACNA1I:NM_021096:exon6:c.A905G:p.D302G	.	422	1090	10	0	0	10	0.00456621	.	.	.	2840429	not_provided|CACNA1I-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.445	0.0741730547426	0.0013	0.000798722	0.0016	0	0.0011	0	0	0.0019	0.0033	0.0028	0.0014748	228	154602	rs59635914	0.0012	0.0012	0.0011	0.0013	0.0035	0.0012	0.0012	0.0023	0.0021	5.974e-05	0.0008	0.0085	0	0.0004	0.0035	0.0011	0.0015	0.0025	0.0009	0.0009	0.0012	0.0007	0.0017	0.0008	0.0008	0.0010	0.0009	0.0001	0.0022	0.0007	0.0084	0	0.0003	0	0.0012	0.0019	0.0017	0.459	0.12070	T	0.358	0.17064	T	0.392	0.43848	B	0.142	0.36635	B	0.181584	0.17088	U	0.304573	0.965378	0.27254	N	0.595	0.15482	N	-4.07	0.96659	D	-1.24	0.31375	N	0.358	0.39962	0.160	0.85222	D	0.706	0.89889	D	10	0.0074782073	0.00170	T	0.074173	0.71974	D	0.445	0.74727	.	.	0.815950638044	0.81421	0.9392349661547909	0.93904	1.82111781014	0.91949	0.524511218071	0.42261	T	0.328259	0.69869	T	-0.193936	0.21683	T	-0.0562789	0.66591	D	0.0369600851075309	0.03149	T	0.787321	0.42620	T	0.18174887	0.39360	0.19433993	0.43051	0.18174887	0.39360	0.19433993	0.43050	-7.257	0.56806	T	.	.	0.079	0.14477	B	.;.;.;.	.;.;.;.	3.617748	0.51181	23.1	0.99205092223509583	0.55412	0.88657	0.48688	D	AEFBI	0.324618	0.42645	N	-0.0235972397717351	0.40788	2.428355	0.115898142358363	0.45361	2.800664	0.776572382050438	0.23762	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.21	4.18	0.48473	4.457000	0.59826	5.253000	0.48099	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.9231:0.0:0.0769:0.0	10.376	0.43265	865	0.32612	.;.;.;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.003788	0.08333	1721.83	33	chr22	39641031	.	A	G	1721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.322;DP=306;ExcessHet=0;FS=0.636;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.66;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1387	5	0	1	0
chr22	39679401	39679401	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon31:c.G5245A:p.D1749N,CACNA1I:NM_021096:exon32:c.G5350A:p.D1784N	.	.	.	.	.	.	.	.	.	.	.	2819541	not_provided|Neurodevelopmental_disorder_with_speech_impairment_and_with_or_without_seizures	MedGen:C3661900|MONDO:MONDO:0859313,MedGen:C5774252,OMIM:620114	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.900872322768	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163577432	1.379e-05	1.437e-05	1.805e-05	9.374e-06	7.673e-05	8.62e-06	7.11e-06	1.27e-05	5.33e-06	7.673e-05	0	0	0	0	0	1.24e-05	3.703e-05	1.524e-05	1.974e-05	1.97e-05	1.286e-05	2.695e-05	4.416e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.416e-05	0	0	0.365	0.14793	T	0.379	0.19539	T	0.013	0.20732	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	-4.03	0.96594	D	-0.95	0.25332	N	0.195	0.27316	0.084	0.83873	D	0.798	0.93156	D	9	0.24048409	0.41209	T	0.900872	0.99254	D	0.267	0.58126	0.388	0.40951	0.619001907274	0.61591	0.36583706007363154	0.36497	1.86641303937	0.92460	0.684245646	0.64879	T	0.018964	0.15193	T	-0.104648	0.35655	T	-0.273141	0.47501	T	0.0731932230949745	0.09092	T	0.760924	0.38541	T	0.11720377	0.27633	0.10308093	0.24724	0.11720377	0.27633	0.10308093	0.24723	-5.865	0.46305	T	.	.	0.078	0.11989	B	.;.;.;.	.;.;.;.	3.075471	0.41357	21.3	0.98463447388724012	0.41768	0.69254	0.34115	D	AEFDBI	0.125838	0.24251	N	-0.473082903705005	0.22966	1.229965	-0.408067617758847	0.24760	1.357713	0.992526628131019	0.32871	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	1.072000	0.30290	7.124000	0.57604	0.670000	0.69193	0.188000	0.24163	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.822	0.88564	829	0.39537	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	241.85	25	chr22	39679401	.	G	A	241.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=85;ExcessHet=0;FS=2.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=0;SOR=1.911	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,421	5	0	1	0
chr22	41763250	41763250	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon19:c.C2197T:p.P733S	.	.	.	.	.	.	.	.	.	.	.	2363445	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.042108429973	0.0004	0.000199681	5.797e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs200561206	2.189e-05	2.189e-05	2.723e-05	1.65e-05	0.0007	1.584e-05	1.356e-05	0.0005	0.0004	0.0007	0.0001	0	0	0	0	0	3.313e-05	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.25	0.92824	T	0.995	0.67487	D	0.87	0.61806	P	0.000001	0.84330	D	0.056497	0.984906	0.81001	D	2.22	0.62911	M	-0.2	0.66113	T	-4.59	0.82341	D	0.613	0.67391	-0.3948	0.72191	T	0.368	0.72788	T	10	0.41118026	0.56235	T	0.042108	0.60287	D	0.262	0.57482	.	.	0.727708087949	0.72529	0.29019743614736254	0.28932	0.516374766168	0.49524	0.374162375927	0.21427	T	0.569712	0.85732	D	0.0449696	0.57692	T	0.224343	0.84390	D	0.743467390537262	0.42925	D	0.79582	0.43907	T	0.6161504	0.73557	0.6060236	0.77096	0.6161504	0.73558	0.6060236	0.77097	-3.544	0.17053	T	.	.	0.164	0.36174	B	.;.	.;.	3.833235	0.55424	23.6	0.99852088079429491	0.93102	0.36152	0.25467	N	ALL	0.497179	0.53181	N	0.582371002322038	0.72074	5.748948	0.582755717311111	0.73706	6.014214	0.999999999999765	0.74766	0.658043	0.49183	0	0.403836	0.06315	2	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.67	5.67	0.87673	3.247000	0.51123	5.881000	0.50644	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.452000	0.27939	0.0:1.0:0.0:0.0	16.678	0.85142	148	0.94114	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	785.83	70	chr22	41763250	.	C	T	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.08;DP=322;ExcessHet=0;FS=2.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=2.27;SOR=1.355	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1436	5	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	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	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.1667	1406.06	40	chr22	41925447	.	G	A	1406.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.489;DP=267;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.441;SOR=0.823	GT:AD:DP:GQ:PL	0/1:27,28:55:99:642,0,668	4	0	2	0
chr22	42126877	42126877	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon7:c.C1136T:p.P379L,CYP2D6:NM_000106:exon8:c.C1289T:p.P430L	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.144987812844	.	0.000599042	0.0004	0.0011	0	0	0	0.0001	0	0.0005	0.0001921	5	26028	rs3021084	0.0001	0.0002	9.225e-05	0.0001	0.0006	9.07e-05	8.54e-05	0.0005	0.0004	0.0005	0.0001	0	0.0001	0	0.0005	6.158e-05	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.579e-05	0	0.0002	0	0	7.382e-05	0	0.0006	0.019	0.50132	D	0.073	0.48336	T	.	.	.	.	.	.	0.717800	0.09960	N	0.871665	0.971698	0.25640	N	1.255	0.31814	L	-0.44	0.69777	T	-3.77	0.76655	D	0.211	0.32370	-0.5623	0.66316	T	0.398	0.75045	T	10	0.07836032	0.12479	T	0.144988	0.82721	D	0.323	0.64522	.	.	0.774184965001	0.77210	0.5618480706216105	0.56111	0.444170810499	0.44332	0.272574156523	0.06479	T	0.015828	0.30526	T	-0.385736	0.02865	T	-0.467916	0.25742	T	0.0947852012280804	0.11773	T	0.964504	0.86967	D	0.1406056	0.32433	0.1346403	0.32257	0.1406056	0.32433	0.1346403	0.32256	-9.465	0.70840	D	.	.	0.205	0.44592	B	.;.;.;.;.	.;.;.;.;.	2.165884	0.27598	17.52	0.99575945526640208	0.72682	0.06982	0.13008	N	AEFI	0.399828	0.47496	N	-0.224322569620784	0.32137	1.809272	-0.434078138476595	0.24004	1.312076	1.18816738180606E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.604944	0.38103	0	.	.	4.85	-0.28	0.12248	-1.132000	0.03346	-4.030000	0.02383	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.787000	0.37188	0.0:0.0942:0.2238:0.682	11.175	0.47819	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	805.83	57	chr22	42126877	.	G	A	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=417;ExcessHet=0;FS=7.693;MLEAC=1;MLEAF=0.083;MQ=36.41;MQRankSum=-1.041;QD=3.97;ReadPosRankSum=-2.633;SOR=1.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	5	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	409.06	131	chr22	42128812	.	A	G	409.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.19;DP=681;ExcessHet=0.4139;FS=11.141;MLEAC=2;MLEAF=0.167;MQ=51.95;MQRankSum=-4.977;QD=1.56;ReadPosRankSum=-2.105;SOR=1.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800:.	4	0	2	0
chr22	42129036	42129036	A	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.T502G:p.S168A	.	1	1438	82	1	0	84	0.0283784	.	.	.	2335774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0374404408606	.	.	5.046e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs1135826	7.432e-05	0.0003	6.98e-05	7.889e-05	0.0014	6.285e-05	5.842e-05	0.0007	0.0005	3.025e-05	6.805e-05	0.0002	0	0	0.0014	4.063e-05	0.0003	0.0003	0.0002	0.0014	0.0001	0.0002	0.0002	0.0001	8.847e-05	0.0001	0.0001	0.0002	0	6.584e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.00964	T	0.807	0.04129	T	.	.	.	.	.	.	0.001903	0.00839	N	3.539820	1	0.08975	N	-0.73	0.01772	N	-1.27	0.79277	T	0.16	0.05217	N	0.128	0.13341	-0.7799	0.56308	T	0.115	0.40740	T	10	0.08526772	0.14379	T	0.03744	0.57615	D	0.226	0.52472	0.373	0.38503	0.298056030225	0.29408	0.21059068015497262	0.20975	0.0911008931681	0.10288	0.420034706593	0.27840	T	7.8E-4	0.03040	T	-0.140885	0.29750	T	-0.440148	0.28791	T	0.0133200469642442	0.00239	T	0.146485	0.01205	T	0.18169317	0.39352	0.08126632	0.18454	0.18169317	0.39351	0.08126632	0.18454	-1.576	0.01927	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	-0.970736	0.00813	0.027	0.31847947949166644	0.01816	0.00025	0.00253	N	AEFDGBI	0.083503	0.16918	N	-2.07234760809253	0.00147	0.006303923	-1.9906736949729	0.00321	0.01415437	3.76170252761087E-4	0.06745	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-0.285	0.12229	-0.679000	0.05304	-1.696000	0.04897	-2.376000	0.00301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4003:0.4827:0.0:0.117	4.833	0.12812	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	65.83	109	chr22	42129036	.	A	C	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=395;ExcessHet=0;FS=27.263;MLEAC=1;MLEAF=0.083;MQ=58.3;MQRankSum=-8.63;QD=0.87;ReadPosRankSum=-2.977;SOR=4.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	1	0
chr22	42129037	42129037	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.C501A:p.H167Q	.	1	1438	82	1	0	84	0.0283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0114433325274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1135825	6.054e-05	0.0003	6.431e-05	5.673e-05	0.0016	4.989e-05	4.653e-05	0.0008	0.0006	3.024e-05	4.533e-05	0.0002	0	0	0.0016	3.43e-05	0.0003	0.0001	0.0001	0.0014	0.0001	0.0002	0.0002	9.849e-05	8.347e-05	0.0001	0.0001	0.0002	0	6.569e-05	0	0	0	0.0034	0.0001	0	0	0.613	0.05420	T	0.754	0.06469	T	.	.	.	.	.	.	0.019125	0.01504	N	2.373600	1	0.18612	N	0.105	0.08473	N	-0.24	0.66834	T	-0.26	0.11185	N	0.128	0.12198	-0.9863	0.33518	T	0.097	0.36522	T	10	0.033819586	0.01569	T	0.011443	0.29067	T	0.107	0.30369	0.325	0.30711	0.284150004643	0.28039	0.2862462233970812	0.28537	0.111660899099	0.12603	0.421149164438	0.27995	T	7.32E-4	0.02125	T	-0.147423	0.28716	T	-0.44954	0.27747	T	0.0312476026732281	0.02185	T	0.392161	0.19325	T	0.15265977	0.34644	0.10768169	0.25927	0.15265977	0.34643	0.10768169	0.25927	-4.958	0.36381	T	.	.	0.150	0.33133	B	.;.;.;.	.;.;.;.	-1.649188	0.00217	0.003	0.53561482879806321	0.04964	0.01961	0.05950	N	AEFDGBI	0.236213	0.35870	N	-2.59474423185388	0.00009	0.0004161119	-2.63484367521019	0.00011	0.0004984315	0.599001188279606	0.21710	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-6.44	0.01749	-3.995000	0.00358	-5.233000	0.01796	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1501:0.3861:0.1264	2.157	0.03582	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	65.83	110	chr22	42129037	.	G	T	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=394;ExcessHet=0;FS=27.232;MLEAC=1;MLEAF=0.083;MQ=58.36;MQRankSum=-8.63;QD=0.87;ReadPosRankSum=-3.077;SOR=4.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	1	0
chr22	42212268	42212268	G	A	exonic	TCF20	.	nonsynonymous SNV	TCF20:NM_001378418:exon2:c.C3038T:p.A1013V,TCF20:NM_005650:exon2:c.C3038T:p.A1013V,TCF20:NM_181492:exon2:c.C3038T:p.A1013V	.	423	1095	4	0	0	4	0.00182315	.	.	.	2819628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.100	0.00677141248355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867676368	6.156e-06	6.156e-06	4.084e-06	8.25e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	8.279e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.054	0.47097	T	0.03	0.22331	B	0.017	0.28123	B	0.053921	0.22768	N	0.412628	0.940207	0.26814	N	0.345	0.11182	N	0.12	0.61089	T	-0.5	0.18042	N	0.196	0.25745	-0.9634	0.38527	T	0.133	0.44603	T	10	0.08122745	0.13272	T	0.006771	0.17897	T	0.100	0.28662	0.135	0.03920	0.134007934775	0.12933	0.301574982194741	0.30070	0.118273141635	0.13311	0.435472160578	0.29957	T	0.047325	0.27688	T	-0.0740137	0.40685	T	-0.344092	0.39880	T	0.390450847190018	0.28581	T	.	.	.	0.09674935	0.22795	0.13630255	0.32611	0.09674935	0.22794	0.13630255	0.32611	-4.23	0.27484	T	.	.	0.198	0.42007	B	.;.	.;.	3.845841	0.55678	23.6	0.99727594402725639	0.82549	0.94720	0.62098	D	AEFDBI	.	.	.	0.0328358476349762	0.43352	2.629938	0.2623274973847	0.53355	3.504746	0.999153011882331	0.38592	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	4.541000	0.60381	9.970000	0.82855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1356:0.8644:0.0	15.764	0.77876	131	0.94738	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1523.83	66	chr22	42212268	.	G	A	1523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.839;DP=377;ExcessHet=0;FS=3.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.15;SOR=0.979	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	0	1	0
chr22	42514716	42514716	G	A	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon5:c.C524T:p.T175M	.	421	1022	79	0	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0059	.	0.0104	0.0011	0.0031	0.0003	0.0032	0.0108	0.0188	0.0260	0.0004204	65	154602	rs141505384	0.0064	0.0072	0.0058	0.0071	0.0397	0.0063	0.0063	0.0355	0.0338	0.0014	0.0045	0.0219	0.0001	0.0027	0.0397	0.0053	0.0077	0.0209	0.0051	0.0054	0.0050	0.0051	0.0171	0.0048	0.0046	0.0141	0.0130	0.0011	0.0011	0.0061	0.0185	0	0.0019	0.0204	0.0065	0.0076	0.0171	0.032	0.44694	D	0.091	0.40110	T	0.999	0.77913	D	0.912	0.64797	D	0.681722	0.10252	N	0.859961	0.999988	0.18198	N	1.625	0.41611	L	1.84	0.24656	T	-2.21	0.49684	N	0.287	0.32481	-1.0487	0.14761	T	0.102	0.37743	T	10	0.010819316	0.00239	T	.	.	.	0.108	0.30607	.	.	0.483153943251	0.47947	0.24857725245994056	0.24771	2.62205694876	0.98273	0.403813183308	0.25599	T	0.136585	0.46904	T	-0.522364	0.00426	T	-0.507521	0.21570	T	0.0123048667362909	0.00199	T	0.834017	0.50309	T	0.089632064	0.20948	0.12695254	0.30567	0.089632064	0.20948	0.12695254	0.30567	-5.864	0.45127	T	.	.	0.090	0.12465	B	.	.	4.139315	0.62006	24.4	0.99785223286555202	0.87131	0.46820	0.27845	N	AEFDGBCI	0.164871	0.29130	N	0.275779643591207	0.54923	3.656973	0.135222655987922	0.46362	2.88357	0.192584466979158	0.18018	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.8	2.68	0.30839	3.366000	0.52068	4.582000	0.43923	0.479000	0.22080	0.920000	0.31959	0.979000	0.30280	0.250000	0.23263	0.0:0.0:0.6848:0.3152	11.166	0.47770	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027304	0.012500	0.027248	0.034483	0.000000	0.052632	0.031469	0.032787	0.08333	2136.83	153	chr22	42514716	.	G	A	2136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.876;DP=588;ExcessHet=0;FS=2.077;MLEAC=1;MLEAF=0.083;MQ=50.85;MQRankSum=-3.477;QD=7.45;ReadPosRankSum=-0.655;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	5	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R,SERHL2:NM_014509:exon12:c.A827G:p.Q276R	.	428	1066	25	2	1	30	0.0134197	.	.	.	3886735	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	Likely benign	0	0	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	0.001586	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.000000	0.08333	78.83	112	chr22	42573937	.	A	G	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=407;ExcessHet=0;FS=12.654;MLEAC=1;MLEAF=0.083;MQ=56.05;MQRankSum=-6.525;QD=1.38;ReadPosRankSum=-3.414;SOR=2.821	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chr22	43161083	43161083	G	A	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon3:c.G214A:p.G72R,TSPO:NM_001256530:exon3:c.G214A:p.G72R,TSPO:NM_001256531:exon3:c.G214A:p.G72R	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.0985566207383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285443074	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	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.99	0.41750	T	-7.24	0.94326	D	0.878	0.87699	-0.3994	0.72046	T	0.300	0.67083	T	10	0.8716206	0.86431	D	0.098557	0.76961	D	0.668	0.87674	0.654	0.79172	0.68085904921	0.67814	0.6904969781805946	0.68989	0.894770431593	0.70409	0.736817002296	0.72504	T	0.068227	0.33403	T	0.282487	0.81528	D	0.167997	0.81291	D	0.997266888618469	0.91148	D	0.965003	0.87031	D	0.89641225	0.91064	0.8703052	0.92887	0.89641225	0.91065	0.8703052	0.92887	-7.995	0.61037	D	.	.	0.258	0.51014	B	.;.;.;.	.;.;.;.	5.332466	0.89486	30	0.99931637816637087	0.99387	0.96514	0.69520	D	AEFBCI	0.951527	0.96616	D	0.899418262402758	0.91729	11.03448	0.851824058861477	0.93121	11.83832	0.999999999999718	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	9.388000	0.96608	9.747000	0.81457	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.739	0.91732	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	483.83	41	chr22	43161083	.	G	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.463;DP=226;ExcessHet=0;FS=7.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.241;SOR=1.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	5	0	1	0
chr22	43668901	43668901	A	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.T1329A:p.D443E,EFCAB6:NM_022785:exon16:c.T1785A:p.D595E	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00234534461318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	0	2.764e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.111622	0.19392	N	0.471211	1	0.08975	N	-1.025	0.01131	N	3.05	0.08721	T	1.56	0.00685	N	0.07	0.12484	-0.9543	0.40221	T	0.005	0.01761	T	10	0.029789597	0.01105	T	0.002345	0.04535	T	0.027	0.05988	0.266	0.21261	0.186928172975	0.18263	0.05529062074397573	0.05470	0.0517499230959	0.05696	0.225660026073	0.01662	T	7.95E-4	0.00383	T	-0.465866	0.00903	T	-0.90696	0.00455	T	0.0623195888455711	0.07530	T	0.306769	0.05902	T	0.025726845	0.01544	0.022268768	0.00255	0.025726845	0.01544	0.022268768	0.00255	-1.905	0.03184	T	.	.	0.067	0.06663	B	.;.	.;.	-0.373665	0.02312	0.245	0.21912345836090741	0.00857	0.01000	0.03786	N	AEFI	0.037407	0.05139	N	-1.73432132355146	0.00727	0.03139236	-1.66477147585343	0.01301	0.05870958	1.33200352351362E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-1.1	0.09367	0.081000	0.14677	0.181000	0.15632	-0.828000	0.02899	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	0.1605:0.4271:0.1443:0.2681	1.149	0.01672	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	649.83	35	chr22	43668901	.	A	T	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.925;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.694;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1067:.	5	0	1	0
chr22	43668903	43668903	-	TTT	exonic	EFCAB6	.	nonframeshift insertion	EFCAB6:NM_198856:exon14:c.1326_1327insAAA:p.K442_D443insK,EFCAB6:NM_022785:exon16:c.1782_1783insAAA:p.K594_D595insK	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	0	2.764e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	649.79	35	chr22	43668903	.	C	CTTT	649.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.892;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1067:.	5	0	1	0
chr22	43683848	43683848	A	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon10:c.T694G:p.S232A,EFCAB6:NM_022785:exon12:c.T1150G:p.S384A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0091	0.00858626	0.0024	0.0275	0.0003	0	0	3.001e-05	0.0011	0	0.0023868	369	154602	rs6006438	0.0008	0.0008	0.0009	0.0007	0.0307	0.0008	0.0008	0.0291	0.0285	0.0307	0.0008	0	0	0	0.0004	1.447e-05	0.0015	4.646e-05	0.0077	0.0077	0.0082	0.0072	0.0272	0.0073	0.0072	0.0259	0.0254	0.0272	0	0.0015	0	0	0	0	0.0001	0.0061	0	0.652	0.04817	T	0.971	0.02647	T	0.001	0.07471	B	0.003	0.08700	B	0.596071	0.11003	N	0.785032	1	0.08975	N	1.64	0.41913	L	2.61	0.13204	T	-0.44	0.14588	N	0.084	0.06059	-0.9430	0.42137	T	0.006	0.01907	T	10	0.0026966035	0.00042	T	.	.	.	0.015	0.02232	.	.	0.136095386433	0.13204	0.06796475099917806	0.06734	0.0484645840277	0.05293	0.298857390881	0.10230	T	9.42E-4	0.00494	T	-0.737829	0.00021	T	-0.811667	0.01628	T	0.00116505628805757	0.00011	T	0.226477	0.02994	T	0.04073021	0.05870	0.03544781	0.02798	0.04073021	0.05869	0.03544781	0.02798	-4.379	0.29285	T	.	.	0.080	0.07602	B	.;.	.;.	0.518097	0.08869	5.648	0.20763979530192511	0.00761	0.03850	0.09204	N	AEFBI	0.045266	0.07382	N	-1.08661005602721	0.06889	0.3184436	-1.06574018743229	0.08382	0.4118909	1.20605718559887E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.48	-0.515	0.11357	-0.003000	0.12836	0.601000	0.19925	0.691000	0.84096	0.000000	0.06391	0.001000	0.17328	0.875000	0.41745	0.408:0.3816:0.2103:0.0	4.175	0.09808	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	983.83	34	chr22	43683848	.	A	C	983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.026;DP=271;ExcessHet=0;FS=1.68;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.182;SOR=0.889	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	5	0	1	0
chr22	43999403	43999403	C	G	exonic	PARVB	.	nonsynonymous SNV	PARVB:NM_001003828:exon1:c.C63G:p.N21K	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00204441837525	.	0.00119808	0.0015	0	0.0010	0.0002	0	0.0002	0.0014	0.0091	0.0009573	148	154602	rs140454524	0.0005	0.0005	0.0003	0.0008	0.0079	0.0005	0.0005	0.0074	0.0072	0	6.805e-05	0	2.521e-05	1.876e-05	0.0019	5.138e-05	0.0007	0.0079	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0.0001	0	0.0087	0.298	0.14595	T	0.117	0.36365	T	0.183	0.29179	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	1.41	0.33412	T	-0.18	0.09796	N	0.18	0.19459	-1.0058	0.28216	T	0.032	0.13767	T	9	0.0037337542	0.00069	T	0.002044	0.03721	T	0.011	0.01250	.	.	0.15556083564	0.15200	0.10647851981650482	0.10577	0.188472968032	0.21169	.	.	.	.	.	.	-0.597127	0.00152	T	-0.626083	0.10713	T	0.0247425993854786	0.01239	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-2.292	0.04511	T	.	.	0.106	0.19559	B	.	.	0.666007	0.10347	7.073	0.94947853673651195	0.25851	0.03986	0.09403	N	AEFDBI	0.040585	0.06057	N	-1.32780328078381	0.03361	0.1499888	-1.42193951164953	0.03033	0.1407331	0.817803324388746	0.24470	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	2.25	-1.33	0.08693	-0.484000	0.06608	-1.732000	0.04828	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2678:0.4182:0.0:0.314	2.248	0.03790	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	624.83	34	chr22	43999403	.	C	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.512;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=1.46;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1238	5	0	1	0
chr22	44285554	44285554	G	A	exonic	SHISAL1	.	nonsynonymous SNV	SHISAL1:NM_001099294:exon4:c.C473T:p.P158L	.	436	1071	13	0	2	15	0.00603248	.	.	.	2689837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0192076702439	.	.	9.563e-05	0	0.0004	0.0001	0	4.796e-05	0.0012	6.146e-05	7.76e-05	12	154602	rs767868598	6.038e-05	6.177e-05	5.728e-05	6.35e-05	0.0005	4.984e-05	4.588e-05	0.0003	0.0003	3.013e-05	0.0005	7.841e-05	5.043e-05	0	0.0004	3.143e-05	0.0002	0.0001	6.8e-05	6.796e-05	6.646e-05	6.961e-05	0.0003	3.632e-05	2.8e-05	0.0001	8.606e-05	2.436e-05	0	0.0003	0	0.0002	0	0	3.095e-05	0.0005	0	0.01	0.56456	D	0.041	0.50514	D	0.981	0.59675	D	0.565	0.49728	P	0.114848	0.19258	N	0.507205	.	.	.	.	.	.	.	.	.	-3.79	0.71639	D	0.178	0.19190	-0.8752	0.50135	T	0.088	0.34078	T	8	0.1883755	0.34389	T	0.019208	0.41510	T	0.127	0.34888	0.371	0.38176	0.123314135267	0.11883	0.2629037829114297	0.26203	0.357203365156	0.37449	0.669582724571	0.62779	T	0.162553	0.50727	T	-0.334636	0.05769	T	-0.396492	0.33792	T	0.125651061534882	0.14974	T	0.679332	0.28809	T	0.11533778	0.27219	0.1503445	0.35461	0.11533778	0.27219	0.1503445	0.35460	-5.059	0.37473	T	.	.	0.091	0.13174	B	.	.	3.271802	0.44790	22.0	0.99296953534778865	0.58469	0.90934	0.52539	D	AEFBI	0.217103	0.34227	N	0.0572122760461071	0.44476	2.720866	0.0133742287690538	0.40336	2.405525	0.977804808150122	0.29857	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.04	4.04	0.46262	2.331000	0.43552	5.291000	0.48208	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.038000	0.14061	0.0:0.0:0.7697:0.2303	9.404	0.37614	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1166.83	35	chr22	44285554	.	G	A	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.41;DP=261;ExcessHet=0;FS=0.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.775;SOR=0.598	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1177,0,990	5	0	1	0
chr22	44736778	44736778	G	A	exonic	PRR5	.	nonsynonymous SNV	PRR5:NM_001017529:exon8:c.G413A:p.R138H,PRR5:NM_001017530:exon8:c.G413A:p.R138H,PRR5:NM_181333:exon8:c.G698A:p.R233H,PRR5:NM_001017528:exon9:c.G671A:p.R224H,PRR5:NM_015366:exon9:c.G671A:p.R224H,PRR5:NM_001198721:exon10:c.G767A:p.R256H	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0116843165767	0.0005	.	0.0001	0.0011	8.846e-05	0.0001	0	3.347e-05	0	0.0001	0.0001358	21	154602	rs113430838	8.798e-05	9.303e-05	9.206e-05	8.375e-05	0.0023	7.523e-05	7.046e-05	0.0018	0.0017	0.0023	0.0002	0	2.579e-05	0	0.0005	1.12e-05	0.0004	0.0001	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0013	0.0018	0	0.0002	0	0.0002	0	0	0	0	0	0.064	0.36509	T	0.085	0.44905	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	1.41	0.47815	T	-1.3	0.32590	N	0.108	0.09349	-1.0497	0.14481	T	0.100	0.37239	T	9	0.016954422	0.00359	T	0.011684	0.29546	T	0.029	0.06676	.	.	0.174091166621	0.17034	0.3664066162879995	0.36554	0.230222229105	0.25573	.	.	.	0.042381	0.26903	T	-0.489019	0.00658	T	-0.481076	0.24331	T	0.00786337331207572	0.00092	T	0.786121	0.43772	T	0.03667805	0.04560	0.04316138	0.05307	0.03667805	0.04559	0.04316138	0.05307	-4.494	0.30810	T	.	.	0.057	0.00754	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.837303	0.23342	15.98	0.98377477105455047	0.40812	0.64865	0.32547	D	AEFDBCIJ	0.253782	0.37321	N	-0.730353849904913	0.15171	0.7623239	-0.668865335521973	0.17740	0.9446849	0.999996094198132	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.41	2.16	0.26663	1.308000	0.33133	5.770000	0.49737	-0.187000	0.09635	0.333000	0.25615	1.000000	0.68203	0.008000	0.08271	0.3164:0.0:0.6836:0.0	7.372	0.25980	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001543	0.000000	0.001359	0.006098	0.000000	0.000000	0.000000	0.000000	0.08333	860.83	35	chr22	44736778	.	G	A	860.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.422;DP=248;ExcessHet=0;FS=3.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.258;SOR=0.394	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1092	5	0	1	0
chr22	45359935	45359935	T	C	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon18:c.A2732G:p.E911G,SMC1B:NM_148674:exon18:c.A2732G:p.E911G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0536218060464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282513472	1.369e-06	1.369e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.59928	D	0.082	0.57587	T	.	.	.	.	.	.	0.336357	0.14032	N	0.630017	0.99995	0.52396	D	.	.	.	-1.47	0.81067	T	-4.23	0.78135	D	0.63	0.64903	-0.2127	0.77343	T	0.479	0.80083	T	10	0.57892776	0.65738	D	0.053622	0.65542	D	0.393	0.70844	0.427	0.47350	0.500467616859	0.49682	0.4699314695486761	0.46912	0.786590578851	0.65551	0.314804792404	0.12633	T	.	.	.	0.0372238	0.56681	T	-0.184307	0.56123	T	0.666100263595581	0.39164	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.33365	B	.;.	.;.	2.759563	0.36189	20.2	0.99696730273154244	0.80316	0.97349	0.74188	D	AEFBI	0.724471	0.67376	D	-0.0992791781030918	0.37423	2.17709	-0.147445537837665	0.33508	1.917374	0.602115321806297	0.21735	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.25	4.2	0.48814	6.107000	0.71183	6.102000	0.53564	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.565000	0.30531	0.0:0.0729:0.0:0.9271	11.152	0.47687	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1199.83	38	chr22	45359935	.	T	C	1199.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.414;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.968;SOR=0.631	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	0
chr22	46433464	46433464	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon5:c.G4540A:p.V1514M,CELSR1:NM_014246:exon5:c.G4540A:p.V1514M	.	420	1099	3	0	0	3	0.00136302	.	.	.	3951204	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.602	0.169879445553	.	.	1.736e-05	0	9.037e-05	0	0	1.579e-05	0	0	1.29e-05	2	154602	rs754974275	3.558e-05	3.557e-05	3.131e-05	3.988e-05	0.0002	2.763e-05	2.502e-05	2.914e-05	2.589e-05	5.975e-05	6.711e-05	0	0	1.874e-05	0.0002	3.867e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	U	0.000000	0.997325	0.43798	D	2.8	0.81625	M	-1.41	0.80560	T	-2.75	0.58407	D	0.843	0.83885	0.505	0.90613	D	0.708	0.89977	D	10	0.9016833	0.89530	D	0.169879	0.84759	D	0.602	0.84291	0.659	0.79689	0.825488628067	0.82384	0.4888838281867351	0.48808	0.70152782101	0.61159	0.719940066338	0.70038	T	0.611023	0.87672	D	0.111356	0.65492	D	0.11915	0.78179	D	0.767348825931549	0.44281	D	0.986201	0.95317	D	0.41033846	0.61442	0.37420246	0.62591	0.41033846	0.61442	0.37420246	0.62591	-8.92	0.67181	D	.	.	0.532	0.65998	A	.	.	4.194416	0.63243	24.6	0.99732971487900846	0.82904	0.92335	0.55474	D	AEFDGBHCI	0.824368	0.74428	D	0.558813204050671	0.70620	5.528427	0.397612838905227	0.61416	4.34158	1.0	0.98316	0.706298	0.61202	0	0.218748	0.04544	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.62	4.62	0.56946	7.281000	0.77985	7.398000	0.58557	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:1.0:0.0:0.0	17.442	0.87459	969	0.06854	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1410.83	109	chr22	46433464	.	C	T	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.941;DP=316;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.046;SOR=0.522	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	5	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3978.73	88	chr22	49922304	.	C	*	3978.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=379;ExcessHet=3.1439;FS=0.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.817;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1283:.	5	0	1	0
chr22	50099551	50099551	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon3:c.G391A:p.A131T,MOV10L1:NM_001164105:exon3:c.G331A:p.A111T,MOV10L1:NM_018995:exon3:c.G391A:p.A131T	.	427	1082	13	0	0	13	0.00597152	.	.	.	2819741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0048	0.00319489	0.0063	0.0006	0.0008	0	0.0045	0.0075	0.0055	0.0130	0.0059443	919	154602	rs140532446	0.0063	0.0063	0.0059	0.0066	0.0119	0.0061	0.0061	0.0113	0.0110	0.0011	0.0014	0.0044	2.519e-05	0.0051	0.0049	0.0065	0.0054	0.0119	0.0051	0.0051	0.0052	0.0050	0.0110	0.0048	0.0047	0.0086	0.0078	0.0008	0.0175	0.0040	0.0052	0	0.0047	0	0.0079	0.0047	0.0110	0.131	0.27663	T	0.283	0.27679	T	0.06	0.23119	B	0.012	0.16012	B	0.065208	0.21897	N	0.499227	1	0.29541	N	0.995	0.25082	L	0.99	0.41750	T	-1.65	0.39503	N	0.126	0.14054	-1.0202	0.23649	T	0.064	0.26597	T	10	0.009549081	0.00215	T	.	.	.	0.035	0.08770	.	.	0.385906861911	0.38208	0.23159866864943857	0.23074	0.0885955950307	0.10020	0.324762225151	0.14142	T	0.068284	0.33418	T	-0.58178	0.00188	T	-0.597432	0.13028	T	0.00551561521669583	0.00060	T	0.614539	0.23564	T	0.062453996	0.13045	0.09583693	0.22747	0.062453996	0.13045	0.09583693	0.22746	-4.22	0.27040	T	.	.	0.081	0.13315	B	.;.;.;.	.;.;.;.	1.892568	0.24040	16.25	0.97746239927388634	0.35714	0.64828	0.32534	D	AEFGI	0.137595	0.25862	N	-0.441556498442041	0.24028	1.294502	-0.416078732536775	0.24525	1.343467	0.00578068170499047	0.11039	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.76	3.64	0.40864	2.114000	0.41535	2.139000	0.30831	0.676000	0.76740	0.941000	0.32681	0.465000	0.25022	0.001000	0.02609	0.1719:0.0:0.8281:0.0	9.074	0.35672	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	0	0	1	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.017241	0.003049	0.015152	0.08333	910.83	35	chr22	50099551	.	G	A	910.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=266;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=2.2;SOR=0.43	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1285	5	0	1	0
chr22	50178214	50178214	C	T	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_001160300:exon2:c.C1502T:p.P501L,PANX2:NM_052839:exon2:c.C1502T:p.P501L	.	592	928	1	1	0	3	0.00161377	.	.	.	2197252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.112556323462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0047	0.0045	0	0	0	0.0054	0	0.0008	9.504e-07	0	0.0001	5.259e-05	5.251e-05	6.432e-05	4.033e-05	0.0015	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.142	0.25560	T	0.153	0.32144	T	0.002	0.09854	B	0.002	0.06944	B	0.442355	0.12611	U	0.534986	0.999799	0.20333	N	0	0.06538	N	1.94	0.22678	T	-0.31	0.12661	N	0.264	0.29889	-1.0356	0.18668	T	0.027	0.11751	T	10	0.09367645	0.16598	T	0.112556	0.79074	D	0.120	0.33359	0.168	0.07302	0.208816687407	0.20498	0.26918745085289936	0.26831	1.30340348241	0.83073	0.779393792152	0.78835	T	0.013345	0.11560	T	-0.257622	0.13181	T	-0.607833	0.12161	T	0.0309591297299192	0.02140	T	0.715628	0.32820	T	0.049127083	0.08673	0.04764136	0.06905	0.049127083	0.08673	0.04764136	0.06905	-6.191	0.47858	T	.	.	0.097	0.15654	B	.;.	.;.	1.283779	0.16839	12.80	0.90562145325192589	0.19817	0.81064	0.40549	D	AEFBI	0.226784	0.35068	N	-0.620359721666065	0.18334	0.9509784	-0.524563049846082	0.21487	1.162602	0.995623305908546	0.34230	0.495158	0.18159	0	0.657636	0.61667	0	0.535252	0.11790	0	0.562822	0.20929	0	.	.	4.15	4.15	0.47978	2.858000	0.48055	3.100000	0.36316	0.460000	0.21577	0.659000	0.28251	0.903000	0.28003	0.008000	0.08271	0.0:0.9062:0.0:0.0938	10.182	0.42148	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	887.31	5	chr22	50178214	.	C	T	887.31	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.78;DP=71;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.58;ReadPosRankSum=-0.116;SOR=0.314	GT:AD:DP:GQ:PL	1/1:1,29:30:79:907,79,0	5	1	0	0
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN	.	434	1059	25	4	0	33	0.0153417	.	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.012876	0.000000	0.018349	0.013889	0.000000	0.000000	0.017857	0.028302	0.08333	98.83	11	chr22	50201141	.	C	G	98.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.998;DP=93;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=2.04;SOR=0.76	GT:AD:DP:GQ:PL	0/0:22,0:22:54:0,54,810	5	0	1	0
chr22	50220728	50220728	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon16:c.C3631T:p.R1211W	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	849416	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0393968462326	0.0003	0.000199681	0.0002	0.0007	8.642e-05	0	0	0.0001	0	0.0002	0.0001423	22	154602	rs138250830	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	6.864e-05	0	5.066e-05	3.758e-05	0	0.0002	0.0002	3.486e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	9.515e-05	0	0.0002	0	0.0004	0.029	0.47320	D	0.006	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.442597	0.04769	N	1.411480	0.999995	0.08975	N	1.245	0.31408	L	2.9	0.13552	T	-2.85	0.60029	D	0.302	0.34120	-1.0415	0.16860	T	0.075	0.30117	T	10	0.047585577	0.04095	T	0.039397	0.58785	D	0.070	0.20419	.	.	0.410204130746	0.40637	0.3958763959318932	0.39502	0.539597992946	0.51187	0.379036664963	0.22120	T	0.128262	0.45580	T	-0.471367	0.00833	T	-0.526568	0.19630	T	0.0734473105240133	0.09126	T	0.515548	0.36163	T	0.054872636	0.10589	0.06614208	0.13507	0.054872636	0.10588	0.06614208	0.13506	-7.966	0.60838	D	.	.	0.207	0.43407	B	.;.	.;.	2.563138	0.33199	19.27	0.99536610025122318	0.70212	0.27651	0.23337	N	AEFGBCI	0.204484	0.33091	N	-0.471862578027912	0.23006	1.232416	-0.483887936059013	0.22596	1.228144	0.998610181815659	0.37309	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	2.31	0.27816	0.158000	0.16239	1.038000	0.23534	-0.920000	0.02202	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0765:0.0:0.5274:0.3961	7.665	0.27593	684	0.59539	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	8099.04	41	chr22	50220728	.	G	A	8099.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.61;DP=489;ExcessHet=0;FS=1.645;MLEAC=2;MLEAF=0.167;MQ=59.47;MQRankSum=-0.416;QD=29.03;ReadPosRankSum=1.03;SOR=0.327	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	1	0	0
chr22	50551313	50551313	C	T	exonic	SYCE3	.	nonsynonymous SNV	SYCE3:NM_001123225:exon3:c.G199A:p.V67I	.	428	1091	2	1	0	4	0.00182983	.	.	.	2819784	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	0.00530329967615	0.0055	0.00179712	0.0038	0.0019	0.0049	0	0	0.0072	0.0053	0.0010	0.0014553	225	154602	rs55829948	0.0063	0.0060	0.0064	0.0061	0.0070	0.0062	0.0061	0.0069	0.0068	0.0010	0.0012	0.0064	0	0.0123	0.0007	0.0070	0.0055	0.0008	0.0047	0.0047	0.0046	0.0047	0.0069	0.0044	0.0043	0.0064	0.0062	0.0012	0	0.0014	0.0040	0	0.0135	0.0034	0.0069	0.0014	0.0017	0.105	0.29823	T	0.262	0.22895	T	0.079	0.24468	B	0.006	0.12133	B	.	.	.	.	0.999879	0.19925	N	.	.	.	0.96	0.42888	T	0.56	0.02680	N	0.148	0.15046	-1.0540	0.13305	T	0.047	0.20037	T	8	0.00575307	0.00128	T	0.005303	0.13556	T	0.014	0.01968	.	.	0.0806252709748	0.07271	0.4340337566062751	0.43320	.	.	0.309133201838	0.11776	T	0.081172	0.36535	T	-0.589154	0.00170	T	-0.611094	0.11896	T	0.00735141046016657	0.00084	T	0.685131	0.29365	T	0.0329032	0.03403	0.052937277	0.08818	0.0329032	0.03403	0.052937277	0.08818	-3.464	0.15931	T	.	.	0.071	0.04080	B	.;.	.;.	2.925506	0.38847	20.8	0.92885789850417544	0.22436	0.62431	0.31779	D	AEFGBI	0.130504	0.24908	N	-0.366122907652329	0.26684	1.458199	-0.226070003218566	0.30605	1.724666	0.998830304177132	0.37777	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	6.04	2.36	0.28258	1.469000	0.34952	5.540000	0.48867	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.2341:0.1521:0.6138:0.0	6.011	0.18804	584	0.69381	.;.	.	.	.	.	rs55829948	Likely benign	0	0	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	0.003341	0.000000	0.000000	0.004464	0.000000	0.029412	0.000000	0.011364	0.08333	1871.83	34	chr22	50551313	.	C	T	1871.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.554;DP=318;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.81;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chr22	50577852	50577852	G	A	exonic	CPT1B	.	nonsynonymous SNV	CPT1B:NM_001145137:exon1:c.C64T:p.R22W,CPT1B:NM_001145134:exon2:c.C64T:p.R22W,CPT1B:NM_001145135:exon2:c.C64T:p.R22W,CPT1B:NM_004377:exon2:c.C64T:p.R22W,CPT1B:NM_152245:exon2:c.C64T:p.R22W,CPT1B:NM_152246:exon2:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	4121706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.613	0.240524006804	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289198003	2.737e-06	2.736e-06	1.362e-06	4.127e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.007	0.69154	D	0.994	0.66517	D	0.677	0.53365	P	0.003257	0.35212	N	0.274240	0.983645	0.81001	D	1.79	0.46772	L	-1.91	0.84701	D	-4.17	0.85844	D	0.507	0.64137	0.349	0.88327	D	0.649	0.87770	D	10	0.5581728	0.64637	D	0.240524	0.88678	D	0.613	0.84879	0.431	0.48007	0.930815178408	0.93011	0.6181949847930598	0.61752	.	.	0.397924333811	0.24780	T	0.848547	0.96531	D	0.0441745	0.57591	T	-0.0774687	0.65090	T	0.953720927238464	0.64095	D	0.974103	0.90741	D	0.39007366	0.60037	0.24792811	0.50332	0.39007366	0.60038	0.24792811	0.50331	-8.748	0.68823	D	.	.	0.147	0.40714	B	.;.;.;.;.;.	.;.;.;.;.;.	5.025548	0.83546	28.1	0.99908284803321912	0.97875	0.88208	0.48034	D	AEFDBHIJ	0.744563	0.68751	D	0.395204888605583	0.61162	4.313613	0.394448966420173	0.61221	4.319304	0.999999837093082	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.570548	0.19454	0	0.592323	0.36904	0	.	.	5.11	4.06	0.46572	4.326000	0.59028	5.534000	0.48853	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8313:0.1687	12.486	0.55214	592	0.68746	Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;.;Carnitine O-palmitoyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1232.83	37	chr22	50577852	.	G	A	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.144;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-0.74;SOR=0.75	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1399	5	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1	1097.7	339	chrX	6533750	.	C	T	1097.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.95;DP=1302;ExcessHet=0;FS=24.526;MLEAC=1;MLEAF=0.1;MQ=48.17;MQRankSum=-3.229;QD=3.24;ReadPosRankSum=-0.973;SOR=2.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,113,1411:.	4	0	1	1
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2121.79	178	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	2121.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.96;DP=1204;ExcessHet=0;FS=46.497;MLEAC=1;MLEAF=0.083;MQ=47.45;MQRankSum=1.63;QD=11.92;ReadPosRankSum=0.173;SOR=1.585	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,113,1411	5	0	1	0
chrX	6533921	6533921	-	GCTCTCCTGACTCAGTGGTTCTTCCACCTC	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.384_385insGAGGTGGAAGAACCACTGAGTCAGGAGAGC:p.S128_Q129insEVEEPLSQES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	7.68e-05	2	26028	rs1363855103	0.0009	0.0032	0.0013	1.523e-05	0.0019	0.0009	0.0008	0.0009	0.0009	0.0002	0.0005	0.0020	6.911e-05	0.0009	0.0019	0.0010	0.0017	5.985e-05	0.0012	0.0018	0.0016	5.244e-05	0.0016	0.0010	0.0010	0.0013	0.0012	0.0005	0.0220	0.0016	0.0014	0.0004	0.0002	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	539.66	42	chrX	6533921	.	G	GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	539.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.582;DP=513;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=47.37;MQRankSum=0.654;QD=13.49;ReadPosRankSum=-2.781;SOR=0.425	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	4	0	1	1
chrX	6534139	6534139	G	A	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C167T:p.A56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.000264901	0.0059	0	0	0	0	0.0159	0	0	3.23e-05	5	154602	rs756580539	0.0003	0.0006	0.0004	1.316e-05	0.0085	0.0003	0.0003	0.0075	0.0071	0.0085	0.0005	5.553e-05	6.719e-05	2.562e-05	0.0007	7.5e-05	0.0007	0.0002	0.0024	0.0033	0.0032	0	0.0095	0.0021	0.0021	0.0085	0.0081	0.0095	0	0.0004	0	0	0	0	9.873e-05	0.0022	0	0.032	0.44694	D	0.045	0.52389	D	0.988	0.62325	D	0.274	0.40037	B	.	.	.	.	1	0.08975	N	2.425	0.70256	M	1.85	0.24472	T	-0.56	0.17003	N	0.143	0.19055	-1.0391	0.17587	T	0.036	0.15640	T	9	0.005564481	0.00123	T	.	.	.	0.058	0.16647	0.331	0.31681	0.043077524339	0.03247	0.0018727505187342117	0.00173	0.266002104779	0.29145	0.532794952393	0.43428	T	0.003625	0.03030	T	-0.322982	0.06657	T	-0.701718	0.05733	T	0.00955185830592866	0.00124	T	0.649735	0.26051	T	0.04415395	0.07007	0.07583206	0.16735	0.04415395	0.07007	0.07583206	0.16735	-4.831	0.34951	T	.	.	0.174	0.49353	B	.;.;.	.;.;.	1.070604	0.14528	11.10	0.9771580294359159	0.35525	0.00563	0.02562	N	AEFI	.	.	.	.	.	.	.	.	.	1.39516897430873E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.225	0.14598	-2.670000	0.00916	0.156000	0.15349	0.246000	0.18300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	4.0E-4:0.0:0.9996:0.0	6.180	0.19678	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.08333	60.83	42	chrX	6534139	.	G	A	60.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.29;DP=343;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.083;MQ=25.87;MQRankSum=-0.88;QD=0.55;ReadPosRankSum=1.54;SOR=0.812	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	5	0	1	0
chrX	7350061	7350061	G	A	exonic	STS	.	nonsynonymous SNV	STS:NM_000351:exon10:c.G1537A:p.A513T,STS:NM_001320753:exon10:c.G1537A:p.A513T,STS:NM_001320754:exon10:c.G1537A:p.A513T,STS:NM_001320750:exon11:c.G1573A:p.A525T,STS:NM_001320752:exon11:c.G1537A:p.A513T,STS:NM_001320751:exon12:c.G1573A:p.A525T	Ichthyosis, X-linked, X-linked recessive	1	1517	2	2	0	6	0.00197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0376783126066	.	0.0010596	0.0004	0	0	0	0	0	0	0.0037	0.0004075	63	154602	rs746909152	0.0002	0.0002	0.0001	0.0003	0.0030	0.0001	0.0001	0.0026	0.0025	3.788e-05	0	0	0	0	0.0002	0	0.0002	0.0030	5.346e-05	6.09e-05	3.854e-05	8.72e-05	0.0022	2.318e-05	1.559e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0022	0.454	0.08891	T	0.469	0.12281	T	0.0	0.02946	B	0.0	0.01387	B	0.759672	0.06532	N	1.122620	1	0.08975	N	0.035	0.08059	N	-3.26	0.93587	D	-0.7	0.19933	N	0.024	0.00445	-0.4970	0.68758	T	0.482	0.80220	T	10	0.0034903586	0.00062	T	0.037678	0.57762	D	0.216	0.50959	0.266	0.21261	0.329587890251	0.32573	0.350531285132491	0.34967	0.261322048144	0.28684	0.240562260151	0.02841	T	0.50977	0.82645	D	-0.534799	0.00360	T	-0.544343	0.17872	T	0.0168821804441894	0.00440	T	0.415058	0.10864	T	0.056251317	0.11043	0.07429582	0.16237	0.056251317	0.11043	0.07429582	0.16236	-3.855	0.21629	T	.	.	0.068	0.02861	B	.	.	-1.518889	0.00284	0.005	0.82729393621576319	0.14344	0.03514	0.08693	N	AEFI	.	.	.	.	.	.	.	.	.	0.999967763394297	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	-7.24	0.01326	0.043000	0.13855	-3.704000	0.02593	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5929:0.1886:0.2185:0.0	8.356	0.31490	1000	0.00083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2270.83	152	chrX	7350061	.	G	A	2270.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.871;DP=329;ExcessHet=0;FS=0.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.153;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	5	0	1	0
chrX	7843210	7843210	C	T	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon2:c.C7T:p.P3S	.	523	993	6	0	0	6	0.00301205	.	.	.	3185614	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00175172759685	0.0041	.	0.0027	0.0006	0.0022	0	0.0008	0.0042	0.0025	0.0007	6.5e-06	1	154602	rs146106202	0.0043	0.0087	0.0064	0.0001	0.0052	0.0042	0.0042	0.0051	0.0051	0.0006	0.0020	0.0013	3.32e-05	0.0012	0.0028	0.0052	0.0037	0.0004	0.0025	0.0047	0.0034	0	0.0057	0.0023	0.0022	0.0045	0.0041	0.0004	0	0.0057	0.0013	0	0.0007	0	0.0037	0.0016	0	0.0	0.91255	D	0.014	0.92824	D	0.988	0.62325	D	0.932	0.66722	D	.	.	.	.	1	0.08975	N	2.32	0.66415	M	2.07	0.20387	T	-0.55	0.17210	N	0.111	0.14622	-1.0687	0.09701	T	0.059	0.24760	T	8	0.008450568	0.00192	T	0.001752	0.02960	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.007890761434372222	0.00754	0.356536374075	0.37394	0.487867742777	0.37144	T	0.013509	0.11669	T	-0.354899	0.04427	T	-0.747564	0.03581	T	0.0195837778994257	0.00661	T	0.648535	0.26183	T	0.14411506	0.33093	0.28355885	0.54350	0.14411506	0.33092	0.28355885	0.54349	-3.547	0.17096	T	.	.	0.103	0.45421	B	.;.;.	.;.;.	1.199366	0.15912	12.19	0.94897439868957556	0.25745	0.40024	0.26344	N	AEFHCI	.	.	.	.	.	.	.	.	.	1.1996878503602E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.167	0.14292	0.090000	0.14865	-6.367000	0.01418	0.296000	0.18849	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.005046	0.010526	0.005917	0.000000	0.000000	0.000000	0.005682	0.006061	0.08333	76.83	52	chrX	7843210	.	C	T	76.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.072;DP=212;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=30.01;MQRankSum=0.318;QD=5.49;ReadPosRankSum=-0.283;SOR=0.033	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	5	0	1	0
chrX	7843562	7843562	C	T	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.C167T:p.A56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00130532179007	0.0002	.	0.0004	0.0019	0	0	0	0.0002	0	0.0010	3.84e-05	1	26028	rs369210177	0.0002	0.0004	0.0003	0	0.0030	0.0002	0.0002	0.0024	0.0022	0.0030	0.0003	0.0002	3.34e-05	0	0.0011	8.528e-05	0.0006	0.0003	0.0011	0.0016	0.0013	0	0.0031	0.0009	0.0008	0.0026	0.0023	0.0031	0	0.0005	0	0	0	0	0.0001	0.0011	0	0.052	0.45756	T	0.082	0.52389	T	0.995	0.67487	D	0.499	0.47621	P	.	.	.	.	0.999986	0.18198	N	2.395	0.69210	M	1.85	0.24472	T	-0.55	0.20791	N	0.115	0.15609	-1.0500	0.14397	T	0.043	0.18659	T	9	0.006912917	0.00157	T	0.001305	0.01809	T	0.068	0.19811	.	.	0.043077524339	0.03247	0.007763696099379276	0.00741	0.351166468122	0.36964	0.587288856506	0.51112	T	0.009024	0.08246	T	-0.395256	0.02487	T	-0.805535	0.01768	T	0.0145451666878309	0.00297	T	0.627137	0.25361	T	0.03764651	0.04865	0.07056679	0.15008	0.03764651	0.04865	0.07056679	0.15008	-4.845	0.35111	T	.	.	0.145	0.47965	B	.;.;.	.;.;.	0.586019	0.09544	6.321	0.96379665916495549	0.29614	0.01472	0.04908	N	AEFI	.	.	.	.	.	.	.	.	.	1.24494919694729E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.167	0.14292	-2.113000	0.01418	-0.556000	0.08502	0.296000	0.18849	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5203:0.4794:1.0E-4	3.808	0.08303	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	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	0.006146	0.000000	0.005894	0.013158	0.000000	0.000000	0.000000	0.012739	0.08333	67.86	32	chrX	7843562	.	C	T	67.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.953;DP=275;ExcessHet=0;FS=4.082;MLEAC=1;MLEAF=0.083;MQ=25.88;MQRankSum=0.638;QD=1.58;ReadPosRankSum=-0.691;SOR=1.826	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	5	0	1	0
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	521.71	123	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	521.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.456;DP=1137;ExcessHet=0;FS=7.182;MLEAC=1;MLEAF=0.1;MQ=51.37;MQRankSum=-5.46;QD=1.2;ReadPosRankSum=0.489;SOR=1.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:256,0:256:99:.:.:0,120,1800:.	4	0	1	1
chrX	7843871	7843900	AGGTGGAGGAACCACTGAGTCAGGAGAGCC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.476_505del:p.Q169_S178del	.	474	1014	15	1	18	35	0.00831296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0009	0.0004	0.0003	0.0013	0.0051	0	0.0093	0.0002305	6	26028	rs754199183	0.0027	0.0031	0.0036	0.0009	0.0034	0.0026	0.0026	0.0030	0.0029	0.0004	0.0004	0.0045	0.0002	0.0008	0.0031	0.0030	0.0022	0.0034	0.0017	0.0016	0.0020	0	0.0037	0.0014	0.0013	0.0020	0.0018	0.0006	0	0.0008	0.0038	0	0.0004	0	0.0024	0.0013	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2436.64	123	chrX	7843870	.	GAGGTGGAGGAACCACTGAGTCAGGAGAGCC	G	2436.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.36;DP=990;ExcessHet=0;FS=3.241;MLEAC=1;MLEAF=0.125;MQ=46.28;MQRankSum=-0.429;QD=15.72;ReadPosRankSum=1.11;SOR=0.304	GT:AD:DP:GQ:PL	./.:331,0:331:0:0,0,5689	3	0	1	2
chrX	8170285	8170285	G	A	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.C167T:p.A56V	.	614	905	2	1	0	4	0.00220507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00237650957644	0.0002	.	0.0006	0.0017	0	0	0	8.315e-05	0	0.0026	0.0003169	49	154602	rs373489800	0.0002	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0022	0.0021	0.0012	0.0006	0.0001	0.0001	0	0	5.829e-05	0.0004	0.0026	0.0003	0.0004	0.0003	0	0.0022	0.0002	0.0001	0.0004	0.0002	0.0005	0	0.0008	0	0.0006	0	0	6.135e-05	0	0.0022	0.02	0.49613	D	0.04	0.50809	D	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.85	0.24472	T	-2.2	0.49519	N	0.054	0.02559	-1.0457	0.15621	T	0.081	0.32031	T	8	0.009745508	0.00219	T	0.002377	0.04646	T	0.031	0.07369	.	.	0.126345400529	0.12197	0.0012925768367950364	0.00119	0.00910728076374	0.00827	0.488872587681	0.37282	T	0.014659	0.12435	T	-0.320356	0.06868	T	-0.697946	0.05938	T	0.0134911232719151	0.00247	T	0.641436	0.25361	T	0.15760909	0.35504	0.18477242	0.41550	0.15760909	0.35504	0.18477242	0.41549	-4.834	0.34985	T	.	.	0.236	0.47005	B	.	.	1.124306	0.15103	11.59	0.97942195457814607	0.37035	0.00201	0.01154	N	AEFI	.	.	.	.	.	.	.	.	.	1.20074722546058E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.137	0.14085	-0.111000	0.10778	-0.986000	0.06696	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	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	0.001732	0.014085	0.001905	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	390.83	23	chrX	8170285	.	G	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.414;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.79;MQRankSum=0.216;QD=21.71;ReadPosRankSum=-0.094;SOR=1.493	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	0
chrX	8466006	8466035	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.364_393del:p.Q129_S138del	.	621	857	9	1	34	45	0.00637681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	8.236e-05	0	0.0009	0.0001617	25	154602	rs768996666	0.0024	0.0022	0.0028	0.0012	0.0042	0.0023	0.0023	0.0023	0.0021	0.0005	0.0029	0.0044	0.0007	0.0042	0.0042	0.0023	0.0040	0.0021	0.0006	0.0010	0.0007	0	0.0007	0.0004	0.0004	0.0005	0.0004	5.67e-05	0.0081	0.0004	0.0018	0.0007	0.0021	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	970.02	39	chrX	8466005	.	AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A	970.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.32;DP=151;ExcessHet=0;FS=9.243;MLEAC=2;MLEAF=0.167;MQ=41.4;MQRankSum=1.04;QD=34.64;ReadPosRankSum=-0.67;SOR=1.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1323:.	5	1	0	0
chrX	8466193	8466193	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T551C:p.L184P	.	612	876	27	1	6	35	0.016283	.	.	.	2707937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00146990707678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173578499	9.742e-05	0.0002	0.0001	6.8e-05	0.0001	7.379e-05	6.57e-05	8.051e-05	7.113e-05	0	0	8.332e-05	0.0001	8.982e-05	0	0.0001	4.403e-05	6.577e-05	0.0002	0.0003	0.0002	0	0.0013	0.0001	8.105e-05	9.557e-05	6.727e-05	0	0	0	0	0.0013	0.0003	0	0.0002	0	0.0013	0.065	0.36310	T	0.292	0.29540	T	.	.	.	.	.	.	.	.	.	.	0.999554	0.26569	N	2.445	0.70938	M	1.46	0.32238	T	-3.08	0.63323	D	0.047	0.02179	-1.0585	0.12134	T	0.044	0.18865	T	9	0.1229727	0.23337	T	0.00147	0.02241	T	0.035	0.08770	.	.	0.0138822411134	0.00435	0.004273110680861151	0.00401	1.41972277544	0.85595	0.529610931873	0.42979	T	0.013835	0.11891	T	-0.441413	0.01269	T	-0.871836	0.00725	T	0.955567836761475	0.64539	D	0.427757	0.11540	T	0.37285802	0.58795	0.43918347	0.67279	0.37285802	0.58795	0.43918347	0.67279	-9.441	0.70492	D	.	.	0.376	0.58215	A	.;.	.;.	2.014648	0.25599	16.82	0.19176854040336633	0.00635	0.00189	0.01098	N	AEFI	.	.	.	.	.	.	.	.	.	2.97748127792087E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	-1.66	0.07824	-1.564000	0.02256	-1.285000	0.05816	.	.	0.000000	0.06391	0.001000	0.17328	.	.	0.5043:0.2169:0.0:0.2787	2.115	0.03487	1000	0.00083	.;.	.	.	.	.	.	Uncertain significance	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	0.011403	0.013333	0.011364	0.015748	0.000000	0.000000	0.023810	0.000000	0.08333	768.85	69	chrX	8466193	.	T	C	768.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.781;DP=283;ExcessHet=0;FS=1.882;MLEAC=1;MLEAF=0.083;MQ=39.83;MQRankSum=-0.474;QD=28.48;ReadPosRankSum=-2.891;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:18:.:.:0,18,2959:.	5	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	52.83	112	chrX	10469688	.	G	A	52.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.42;DP=343;ExcessHet=0;FS=69.934;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=1.76;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1043:.	5	0	1	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	170.77	114	chrX	10469690	.	T	C	170.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.686;DP=529;ExcessHet=0.4139;FS=178.002;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.27;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:99,0:99:0:.:.:0,0,2302:.	3	0	2	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	195.06	117	chrX	10469693	.	T	C	195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.927;DP=342;ExcessHet=0.4139;FS=85.852;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.607;SOR=5.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1099:.	4	0	2	0
chrX	16152542	16152542	C	T	exonic	GRPR	.	nonsynonymous SNV	GRPR:NM_005314:exon3:c.C1052T:p.T351I	.	0	1521	1	0	0	1	0.000328623	.	.	.	3678917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.159576804717	.	.	1.143e-05	0	0	0	0	2.088e-05	0	0	6.5e-06	1	154602	rs745896020	1.827e-06	1.821e-06	1.361e-06	2.777e-06	.	3e-07	1.1e-07	.	.	0	0	0	0	0	0	0	4.35e-05	0	8.906e-06	8.7e-06	1.284e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.395	0.15255	T	0.001	0.07471	B	0.002	0.06944	B	0.006031	0.32324	N	0.326738	0.56572	0.31220	N	0.755	0.19153	N	1.19	0.37578	T	-0.05	0.07736	N	0.108	0.09349	-1.0559	0.12803	T	0.054	0.22921	T	10	0.06801358	0.09560	T	0.159577	0.83975	D	0.045	0.12272	0.293	0.25560	0.59634542923	0.59313	0.4169033471408151	0.41606	0.374480411608	0.38907	0.405451983213	0.25827	T	0.283826	0.65659	T	-0.334342	0.05789	T	-0.718035	0.04891	T	0.0702142272700865	0.08681	T	0.665433	0.27458	T	0.07563518	0.17055	0.07983027	0.18007	0.07563518	0.17054	0.07983027	0.18007	-4.387	0.29381	T	.	.	0.098	0.16275	B	.	.	1.870678	0.23763	16.14	0.8753968485425847	0.17300	0.39678	0.26266	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999387962804986	0.39415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	4.6	0.56512	1.465000	0.34909	3.959000	0.40733	0.599000	0.40250	0.874000	0.30870	0.999000	0.35428	0.949000	0.49496	0.0:0.7152:0.0:0.2848	5.226	0.14718	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3202.83	36	chrX	16152542	.	C	T	3202.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.72;DP=398;ExcessHet=0;FS=0.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.575;SOR=0.65	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1215	5	0	1	0
chrX	16171263	16171263	A	G	exonic	MAGEB17	.	nonsynonymous SNV	MAGEB17:NM_001277307:exon2:c.A881G:p.N294S	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00247560068479	.	0.000264901	0.0002	0	0	0	0	5.394e-05	0	0.0014	0.0001358	21	154602	rs759076744	8.943e-05	9.014e-05	6.4e-05	0.0001	0.0017	7.507e-05	6.897e-05	0.0009	0.0008	0	0	5.19e-05	0	0	0.0017	3.329e-05	6.517e-05	0.0011	4.471e-05	6.088e-05	2.57e-05	8.821e-05	0.0019	1.707e-05	1.049e-05	0.0008	0.0005	0	0	0	0	0	0	0	0	0	0.0019	0.104	0.29959	T	0.155	0.31936	T	.	.	.	.	.	.	0.984529	0.08072	N	0.992215	1	0.08975	N	0.715	0.18665	N	4.67	0.01735	T	-3.99	0.73893	D	0.019	0.00279	-0.9676	0.37693	T	0.006	0.01981	T	8	0.0134242475	0.00285	T	0.002476	0.04896	T	0.018	0.03083	0.407	0.44066	0.176091768786	0.17195	0.44405730700315216	0.44323	0.160309896922	0.18085	0.473092854023	0.35106	T	0.105006	0.41509	T	-0.895909	0.00000	T	-1.10524	0.00025	T	0.251658499240875	0.22947	T	0.279972	0.04873	T	0.07414296	0.16617	0.13026424	0.31305	0.07414296	0.16617	0.13026424	0.31304	-4.762	0.34145	T	.	.	0.132	0.28406	B	.;.	.;.	0.218092	0.06006	2.449	0.56793557847941412	0.05629	0.00399	0.01994	N	AEFBI	.	.	.	.	.	.	.	.	.	0.941644722289633	0.27486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.66	-5.32	0.02511	-0.053000	0.11802	-2.622000	0.03538	-0.089000	0.16174	0.001000	0.13787	0.000000	0.08366	0.687000	0.33748	0.2203:0.4936:0.1227:0.1635	2.597	0.04562	428	0.80967	MAGE homology domain;MAGE 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	.	.	.	.	.	.	.	.	0.25	4836.0	39	chrX	16171263	.	A	G	4836.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.1;DP=410;ExcessHet=0;FS=0.971;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=-1.508;SOR=0.792	GT:AD:DP:GQ:PL	0/1:103,70:173:99:1910,0,2713	4	1	1	0
chrX	18180650	18180650	G	A	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_001184767:exon7:c.C1016T:p.A339V,BEND2:NM_153346:exon9:c.C1289T:p.A430V	.	.	.	.	.	.	.	.	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.763e-06	2.734e-06	4.091e-06	0	0.0002	7.4e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.406e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.12226	T	0.379	0.32568	T	0.056	0.22806	B	0.01	0.14941	B	0.590420	0.05589	N	1.324380	1	0.08975	N	-0.08	0.04796	N	1.95	0.25509	T	-0.23	0.10656	N	0.152	0.22098	-1.0196	0.23845	T	0.024	0.10194	T	10	0.056331396	0.06297	T	0.00207	0.03801	T	0.004	0.00165	0.276	0.22845	0.0482279557977	0.04254	0.13018203682578428	0.12943	0.187262311553	0.21039	0.263757765293	0.05346	T	0.003482	0.02889	T	-0.536645	0.00351	T	-1.00863	0.00123	T	0.101564548909664	0.12528	T	0.447055	0.12582	T	0.08327723	0.19223	0.08647878	0.20039	0.08327723	0.19223	0.08647878	0.20039	-4.566	0.35282	T	.	.	0.109	0.20663	B	.;.	.;.	-0.753963	0.01202	0.059	0.82482733806649478	0.14215	0.01156	0.04174	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00378210934112351	0.10278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.57	-1.65	0.07849	-1.079000	0.03521	-2.257000	0.03988	-1.183000	0.01384	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5028:0.0:0.3002:0.197	3.336	0.06686	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	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	0.000692	0.000000	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	534.83	36	chrX	18180650	.	G	A	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.137;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.307;SOR=0.836	GT:AD:DP:GQ:PL	0/1:18,20:38:99:545,0,445	5	0	1	0
chrX	23000457	23000457	A	G	exonic	DDX53	.	nonsynonymous SNV	DDX53:NM_182699:exon1:c.A400G:p.I134V	.	419	1100	2	1	0	4	0.00181488	.	.	.	2202962	not_provided|not_specified|DDX53-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00112413068226	9.5e-05	0.000529801	0.0003	0	0.0004	0	0	0.0003	0.0016	9.899e-05	0.0002781	43	154602	rs149084464	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0013	0.0010	7.575e-05	0.0008	0	6.624e-05	0	0.0024	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	6.484e-05	0	0.0005	0	0.0003	0	0.0046	0.0004	0.0013	0.0004	0.679	0.04443	T	0.588	0.08273	T	0.0	0.02946	B	0.0	0.01387	B	0.241726	0.03587	N	1.635260	1	0.08975	N	-1.18	0.00862	N	2.17	0.19020	T	0.4	0.03463	N	0.004	0.00025	-1.0154	0.25207	T	0.015	0.06234	T	10	0.0146482885	0.00308	T	0.001124	0.01360	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.1021775503329244	0.10147	0.0748231646894	0.08394	0.243973568082	0.03160	T	0.003791	0.03201	T	-0.855643	0.00002	T	-1.11513	0.00020	T	0.00905508510124681	0.00113	T	0.146985	0.01214	T	0.026031999	0.01611	0.037016563	0.03266	0.026031999	0.01611	0.037016563	0.03266	-2.997	0.10149	T	.	.	0.058	0.00705	B	.	.	-0.799288	0.01108	0.050	0.5306009052501891	0.04866	0.00036	0.00313	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.304524613990333	0.19224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.97	-2.29	0.06419	0.279000	0.18532	-0.033000	0.12769	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5607:0.0:0.2722:0.1671	4.657	0.12009	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.004132	0.000000	0.007421	0.000000	0.000000	0.011765	0.004425	0.000000	0.08333	956.83	33	chrX	23000457	.	A	G	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.291;DP=273;ExcessHet=0;FS=3.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.408;SOR=0.384	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	5	0	1	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGCTGC:p.A543_P544insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0007	0.0003	0.0014	0.0005	0.0005	0.0011	0.0010	0.0003	0.0005	0	0.0012	0.0002	0.0009	0.0005	0.0006	0.0014	0.0005	0.0006	0.0005	0.0006	0.0007	0.0004	0.0003	0.0005	0.0004	0.0001	0	0.0005	0.0005	0.0004	0	0.0055	0.0007	0.0009	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5460.12	38	chrX	24364256	.	T	TTGCTGCTGCTGCTGCTGC	5460.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.116;DP=628;ExcessHet=0.095;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.88;MQRankSum=1.52;QD=27.44;ReadPosRankSum=0.305;SOR=0.737	GT:AD:DP:GQ:PL	0/1:45,39:90:99:1395,0,1735	4	1	1	0
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1667	1320.04	37	chrX	27822288	.	G	A	1320.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33;SOR=1.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	1	0	0
chrX	30218702	30218702	G	A	exonic	MAGEB2	.	nonsynonymous SNV	MAGEB2:NM_002364:exon2:c.G122A:p.C41Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	9.5e-05	0.00291391	0.0012	0.0002	0	0.0136	0	3.309e-05	0.0074	0.0001	0.0008603	133	154602	rs74852235	0.0005	0.0005	0.0005	0.0005	0.0126	0.0004	0.0004	0.0115	0.0111	0.0002	5.798e-05	0.0002	0.0126	0	0.0002	3.461e-05	0.0016	0.0006	0.0007	0.0007	0.0008	0.0004	0.0101	0.0005	0.0005	0.0075	0.0066	0.0004	0	0.0019	0.0008	0.0101	0	0.0046	5.64e-05	0.0013	0	0.071	0.35165	T	0.036	0.52060	D	0.988	0.62325	D	0.673	0.53214	P	0.604470	0.05665	N	1.289800	1	0.08975	N	1.39	0.34934	L	3.7	0.04079	T	-2.53	0.54864	D	0.035	0.01004	-0.9858	0.33639	T	0.013	0.05225	T	10	0.0037859082	0.00071	T	.	.	.	0.062	0.17934	.	.	0.134241683229	0.13084	0.11963072530413536	0.11890	0.00421502833054	0.00371	0.324429035187	0.14092	T	0.017351	0.14172	T	-0.859706	0.00002	T	-0.99829	0.00142	T	0.0486824442647654	0.05266	T	0.125887	0.00981	T	0.1450718	0.33272	0.22925484	0.47991	0.1450718	0.33271	0.22925484	0.47990	-6.248	0.48309	T	.	.	0.099	0.16843	B	.	.	0.820169	0.11915	8.477	0.59001621640161173	0.06122	0.03255	0.08284	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999586821012664	0.40607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.04	0.196	0.14439	-0.287000	0.08423	-3.558000	0.02697	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4061:0.4527:0.1411	4.878	0.13025	799	0.44747	Melanoma associated antigen, N-terminal|Melanoma associated antigen, 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	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.25	1190.01	36	chrX	30218702	.	G	A	1190.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.606;DP=185;ExcessHet=0;FS=5.117;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-1.264;SOR=0.873	GT:AD:DP:GQ:PL	0/1:23,19:42:99:496,0,616	4	1	1	0
chrX	35802719	35802719	C	T	exonic	MAGEB16	.	nonsynonymous SNV	MAGEB16:NM_001099921:exon2:c.C523T:p.P175S,MAGEB16:NM_001370158:exon2:c.C523T:p.P175S,MAGEB16:NM_001370159:exon2:c.C523T:p.P175S	.	442	1064	11	5	0	21	0.00977199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00294249352395	.	0.0010596	0.0007	0	0.0001	0.0002	0	0.0002	0	0.0046	0.000608	94	154602	rs199945481	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0.0012	4.755e-05	0.0002	0.0051	9.928e-05	0.0001	7.717e-05	0.0002	0.0023	5.515e-05	4.281e-05	0.0010	0.0007	0	0	0	0	0.0003	0	0	5.672e-05	0.0007	0.0023	0.384	0.11050	T	0.133	0.34359	T	0.931	0.51899	P	0.859	0.61184	P	0.561402	0.11332	N	0.809643	1	0.08975	N	1.65	0.42232	L	3.59	0.04544	T	-7.28	0.94430	D	0.038	0.01203	-1.0214	0.23259	T	0.027	0.11397	T	10	0.008211166	0.00186	T	0.002942	0.06250	T	0.052	0.14661	0.537	0.64730	0.0611884634855	0.05136	0.131864871008235	0.13111	0.375623031014	0.39023	0.410652697086	0.26547	T	0.143982	0.48037	T	-0.825297	0.00005	T	-0.957167	0.00240	T	0.200339052566014	0.20434	T	0.820618	0.48098	T	0.088441156	0.20631	0.16065016	0.37407	0.088441156	0.20630	0.16065016	0.37406	-4.704	0.33453	T	.	.	0.144	0.33412	B	.;.;.;.;.	.;.;.;.;.	1.658220	0.21151	15.07	0.99028825257333231	0.50742	0.01779	0.05574	N	AEFI	.	.	.	.	.	.	.	.	.	1.17084828437369E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.13	0.154	0.14196	0.206000	0.17174	-0.090000	0.12069	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2261:0.4176:0.2177:0.1386	1.279	0.01914	924	0.18029	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE 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	0.001376	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.005263	0.08333	1377.83	106	chrX	35802719	.	C	T	1377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.148;DP=537;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.402;SOR=0.794	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	5	0	1	0
chrX	41197453	41197453	A	C	exonic	USP9X	.	nonsynonymous SNV	USP9X:NM_001039590:exon29:c.A4323C:p.Q1441H,USP9X:NM_001039591:exon29:c.A4323C:p.Q1441H	Mental retardation, X-linked 99, X-linked recessive;Mental retardation, X-linked 99, syndromic, female-restricted, X-linked dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0211803384254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.735e-06	2.732e-06	4.084e-06	0	3.566e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.566e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43708	D	0.054	0.47097	T	0.307	0.32716	B	0.08	0.28873	B	0.000000	0.84330	D	0.000000	0.99978	0.49076	D	1.87	0.49600	L	4.08	0.03033	T	-2.1	0.47852	N	0.574	0.59648	-0.9056	0.47378	T	0.011	0.03949	T	10	0.3147925	0.48917	T	0.02118	0.43908	T	0.201	0.48592	0.429	0.47680	0.718785486845	0.71631	0.7403117398647183	0.73976	1.98726426833	0.93697	0.826097846031	0.85964	D	0.327907	0.69837	T	-0.0936575	0.37471	T	-0.372309	0.36619	T	0.825050950050354	0.48150	D	0.923508	0.72088	D	0.37685436	0.59088	0.26221272	0.52010	0.37685436	0.59088	0.26221272	0.52009	-11.504	0.82351	D	0.20552212285733948	0.27420	0.824	0.79500	P	.;.	.;.	2.118775	0.26965	17.30	0.99366419463230971	0.61240	0.86594	0.45907	D	AEFBI	.	.	.	.	.	.	.	.	.	0.17039089438053	0.17727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3	2.39	0.28492	1.278000	0.32784	0.941000	0.22852	0.691000	0.84096	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.5829:0.0:0.4171:0.0	8.460	0.32082	109	0.95526	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1168.83	40	chrX	41197453	.	A	C	1168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=289;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.17;SOR=0.352	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	0
chrX	41474651	41474651	G	A	exonic	NYX	.	nonsynonymous SNV	NYX:NM_022567:exon2:c.G1198A:p.G400S,NYX:NM_001378477:exon3:c.G1198A:p.G400S	Night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	348731	not_provided|not_specified|Congenital_stationary_night_blindness_1A|NYX-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010690,MedGen:C3495587,OMIM:310500,Orphanet:215|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00609272	0.0033	0.0015	0	0.0345	0	0	0.0036	0	0.0017464	270	154602	rs189924262	0.0004	0.0004	0.0004	0.0003	0.0127	0.0004	0.0004	0.0117	0.0112	0.0001	0	0	0.0127	0	0	0	0.0010	1.913e-05	0.0011	0.0011	0.0010	0.0012	0.0298	0.0009	0.0009	0.0252	0.0234	0.0004	0	0.0002	0	0.0298	0	0	0	0	0	0.421	0.09806	T	0.797	0.04104	T	0.085	0.24868	B	0.01	0.14941	B	0.048868	0.23213	N	0.454427	1	0.08975	N	2.2	0.62015	M	0.32	0.58468	T	-0.11	0.08653	N	0.079	0.05670	-1.0199	0.23747	T	0.058	0.24167	T	10	0.0023649335	0.00035	T	.	.	.	0.060	0.17295	.	.	0.823063812362	0.82139	0.23035802238360467	0.22950	0.799037447193	0.66158	0.432542443275	0.29556	T	0.104053	0.41326	T	-0.560656	0.00251	T	-0.545985	0.17712	T	0.0142812445896037	0.00284	T	0.734027	0.34984	T	0.062191725	0.12963	0.070430085	0.14962	0.067898475	0.14744	0.088149525	0.20536	-1.97	0.03070	T	.	.	0.081	0.08320	B	.;.	.;.	0.723454	0.10925	7.594	0.83558220660084392	0.14792	0.13512	0.17898	N	AEFBI	.	.	.	.	.	.	.	.	.	0.998780605216343	0.37667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	4.82	0.61641	1.047000	0.29976	1.783000	0.28733	0.676000	0.76740	0.009000	0.18154	0.966000	0.29516	0.485000	0.28678	0.1772:0.1512:0.512:0.1595	2.146	0.03556	69	0.97055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1220.83	33	chrX	41474651	.	G	A	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=196;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.496;SOR=1.096	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1380	5	0	1	0
chrX	44242179	44242179	T	C	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon8:c.A1222G:p.I408V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00337783499598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328085709	2.74e-06	2.732e-06	1.362e-06	5.545e-06	3.569e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.569e-06	0	0	8.935e-06	8.703e-06	1.285e-05	0	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	.	.	.	0.522	0.10391	T	0.001	0.07471	B	0.002	0.06944	B	0.464478	0.12352	N	0.796966	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	0.079	0.05414	-1.0350	0.18857	T	0.130	0.43968	T	10	0.038385093	0.02253	T	0.003378	0.07572	T	0.073	0.21317	0.233	0.16155	0.0934897674506	0.08844	0.47769500039564183	0.47689	0.0700343318132	0.07844	0.240552768111	0.02840	T	0.001993	0.01403	T	-0.386669	0.02826	T	-0.793199	0.02078	T	0.0205063573526979	0.00750	T	0.50095	0.15685	T	0.02818373	0.02117	0.041372195	0.04687	0.02818373	0.02116	0.041372195	0.04687	-4.093	0.25187	T	.	.	0.08	0.07793	B	.	.	-0.722345	0.01269	0.066	0.18811195025424146	0.00608	0.07201	0.13226	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998076956797057	0.36393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9	-1.22	0.09005	-0.460000	0.06797	0.285000	0.16810	-0.759000	0.03520	0.005000	0.17040	0.994000	0.32194	0.029000	0.12982	0.1819:0.2219:0.1008:0.4954	1.539	0.02398	912	0.21483	.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.08333	436.83	62	chrX	44242179	.	T	C	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.327;DP=223;ExcessHet=0;FS=1.027;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=-2.068;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	5	0	1	0
chrX	47627296	47627296	G	A	exonic	CFP	.	nonsynonymous SNV	CFP:NM_001145252:exon5:c.C611T:p.P204L,CFP:NM_002621:exon6:c.C611T:p.P204L	Properdin deficiency, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	743348	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0083	0.0113907	0.0037	0.0331	0.0014	0	0	3.053e-05	0	0	0.0024062	372	154602	rs8177076	0.0008	0.0008	0.0008	0.0006	0.0236	0.0007	0.0007	0.0221	0.0215	0.0236	0.0021	0	0	0	0.0019	3.464e-05	0.0019	3.782e-05	0.0070	0.0071	0.0073	0.0064	0.0238	0.0066	0.0065	0.0224	0.0218	0.0238	0	0.0032	0	0	0	0	0.0002	0.0072	0	0.223	0.22400	T	0.348	0.21545	T	0.05	0.22331	B	0.052	0.25551	B	0.820717	0.06882	N	1.077200	1	0.08975	N	1.87	0.49600	L	0.31	0.58613	T	-2.4	0.54546	N	0.347	0.38848	-1.0046	0.28577	T	0.067	0.27572	T	10	0.0074133575	0.00169	T	.	.	.	0.031	0.07369	.	.	0.171220215726	0.16700	0.2683859628761004	0.26751	0.756336983159	0.64023	0.27356082201	0.06611	T	0.21669	0.57892	T	-0.613305	0.00121	T	-0.634149	0.10102	T	0.010029269367234	0.00134	T	0.849315	0.58827	T	0.19504835	0.41278	0.22941189	0.48012	0.25442898	0.48471	0.23296745	0.48471	-5.744	0.44083	T	0.4104229984572134	0.50083	0.084	0.23709	B	.;.;.;.	.;.;.;.	1.744348	0.22197	15.52	0.8389648523221126	0.14981	0.22800	0.21867	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999987500329648	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	3.6	0.40374	0.710000	0.25421	4.273000	0.42854	0.676000	0.76740	0.063000	0.21864	0.999000	0.35428	0.096000	0.18090	0.2177:0.0:0.7823:0.0	6.514	0.21437	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011080	0.013889	0.020408	0.007905	0.000000	0.000000	0.000000	0.005263	0.08333	1771.83	116	chrX	47627296	.	G	A	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=304;ExcessHet=0;FS=1.498;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.699;SOR=0.532	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1354	5	0	1	0
chrX	48060012	48060012	G	A	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.C430T:p.R144C,ZNF630:NM_001190255:exon5:c.C388T:p.R130C,ZNF630:NM_001282201:exon5:c.C430T:p.R144C,ZNF630:NM_001282202:exon5:c.C58T:p.R20C	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0071	0.0103311	0.0026	0.0244	0.0006	0	0	0	0	0	0.0018887	292	154602	rs139073512	0.0007	0.0007	0.0008	0.0006	0.0225	0.0007	0.0007	0.0209	0.0204	0.0225	0.0010	0	3.318e-05	0	0.0022	6.312e-05	0.0020	3.708e-05	0.0072	0.0074	0.0079	0.0056	0.0250	0.0068	0.0066	0.0235	0.0229	0.0250	0	0.0022	0	0	0	0	0.0001	0.0072	0	0.002	0.72154	D	0.031	0.70582	D	0.204	0.29802	B	0.057	0.26280	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.21	0.08371	T	-3.0	0.71157	D	0.145	0.19459	-0.9673	0.37754	T	0.005	0.01506	T	9	0.0037662983	0.00070	T	.	.	.	0.065	0.18881	.	.	0.0954503805726	0.09146	0.05943743726777388	0.05883	0.0395574204048	0.04223	0.257555603981	0.04604	T	0.045015	0.26992	T	-0.657802	0.00065	T	-0.698067	0.05932	T	0.0186952376385501	0.00582	T	0.292471	0.36163	T	0.18808818	0.40292	0.22986598	0.48071	0.18808818	0.40291	0.22986598	0.48070	-6.475	0.50093	T	.	.	0.268	0.50269	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.726573	0.10958	7.622	0.77279385234553188	0.11810	0.02015	0.06057	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.00262184388926485	0.09584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.33	-1.42	0.08446	-1.207000	0.03118	-12.020000	0.00557	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.502000	0.29062	0.2923:0.4055:0.3022:0.0	3.733	0.08026	556	0.71678	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004831	0.006803	0.011152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2181.83	166	chrX	48060012	.	G	A	2181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.15;SOR=0.647	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	5	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	84.77	54	chrX	49039321	.	G	A	84.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.253;DP=284;ExcessHet=0.4139;FS=105.649;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=-0.061;SOR=7.111	GT:AD:DP:GQ:PL	0/0:61,0:61:33:0,33,1170	3	0	2	1
chrX	49067852	49067852	G	A	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.G1738A:p.A580T,CCDC120:NM_001163322:exon10:c.G1597A:p.A533T,CCDC120:NM_001163323:exon10:c.G1597A:p.A533T,CCDC120:NM_001271835:exon10:c.G1633A:p.A545T,CCDC120:NM_001271836:exon10:c.G1633A:p.A545T,CCDC120:NM_033626:exon10:c.G1633A:p.A545T	.	434	1082	3	3	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00855815387058	0.0010	0.000529801	0.0021	0.0005	0	0	0	0.0041	0	0.0004	0.0010284	159	154602	rs181634176	0.0019	0.0019	0.0019	0.0018	0.0097	0.0018	0.0018	0.0073	0.0064	0.0008	0.0004	0.0035	0	0.0002	0.0097	0.0021	0.0020	0.0008	0.0012	0.0013	0.0014	0.0009	0.0021	0.0011	0.0010	0.0018	0.0017	0.0003	0	0.0004	0.0023	0	0.0003	0	0.0021	0.0007	0.0014	0.034	0.44029	D	0.561	0.13518	T	0.586	0.38931	P	0.328	0.42011	B	0.094345	0.20177	N	0.491510	1	0.08975	N	1.39	0.34934	L	.	.	.	-0.22	0.10480	N	0.033	0.06190	-1.0448	0.15884	T	0.100	0.37188	T	9	0.008343816	0.00189	T	0.008558	0.22631	T	0.105	0.29889	.	.	0.262679179196	0.25893	0.29676847803601253	0.29589	.	.	0.587219178677	0.51102	T	0.012981	0.11314	T	-0.415217	0.01836	T	-0.374444	0.36370	T	0.00698735719855717	0.00079	T	0.70163	0.31127	T	0.048113495	0.08333	0.10345749	0.24823	0.048113495	0.08333	0.10345749	0.24822	-4.557	0.32497	T	.	.	0.073	0.08997	B	.;.;.;.;.	.;.;.;.;.	1.845244	0.23444	16.02	0.99828795108452451	0.91112	0.37000	0.25662	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.984015578516517	0.30650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.16	3.3	0.36912	2.152000	0.41897	1.554000	0.27312	0.614000	0.49286	0.861000	0.30630	0.016000	0.20520	0.833000	0.39279	0.1299:0.0:0.8701:0.0	6.910	0.23509	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	0	0	0	0	0.010029	0.000000	0.007477	0.028226	0.000000	0.011905	0.004762	0.005587	0.08333	272.83	47	chrX	49067852	.	G	A	272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.45;DP=231;ExcessHet=0;FS=2.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=1.33;SOR=1.179	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1411	5	0	1	0
chrX	49174341	49174341	G	A	exonic	PLP2	.	nonsynonymous SNV	PLP2:NM_002668:exon4:c.G352A:p.G118S	.	.	.	.	.	.	.	.	.	.	.	4006954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.570	0.0213656199335	.	0.000264901	0.0002	0	0	0	0	0	0	0.0015	0.0001358	21	154602	rs782564725	6.773e-05	6.74e-05	4.494e-05	0.0001	0.0012	5.519e-05	5.054e-05	0.0010	0.0009	0	0	0	0	0	0	3.585e-06	8.712e-05	0.0012	3.591e-05	3.482e-05	2.571e-05	5.955e-05	0.0015	1.139e-05	6.65e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.065	0.87014	M	1.53	0.30401	T	-4.78	0.80510	D	0.296	0.33469	-0.6481	0.62797	T	0.222	0.58562	T	10	0.24309906	0.41518	T	0.021366	0.44128	T	0.570	0.82516	0.892	0.97414	0.734023175224	0.73164	0.9216257653631107	0.92138	0.672002035909	0.59500	0.599998176098	0.52903	T	0.281756	0.65449	T	-0.0318897	0.47143	T	0.146038	0.79933	D	0.674730777740479	0.39549	D	0.838216	0.51127	T	0.9622755	0.97508	0.9471843	0.98227	0.9622755	0.97509	0.9471843	0.98227	-8.424	0.63924	D	.	.	0.616	0.69542	P	.	.	4.494881	0.70253	25.5	0.99803700358736602	0.88817	0.95222	0.63891	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999999999988305	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	3.537000	0.53345	9.561000	0.80994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.0:0.0:1.0:0.0	15.935	0.79492	32	0.98147	Marvel domain|Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2272.83	34	chrX	49174341	.	G	A	2272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.8;DP=361;ExcessHet=0;FS=1.831;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.708;SOR=0.872	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,104,1319	5	0	1	0
chrX	49176001	49176001	G	T	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon9:c.C1316A:p.A439D,PRICKLE3:NM_006150:exon9:c.C1520A:p.A507D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0122797194099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.07368	T	0.019	0.17989	B	0.007	0.12992	B	0.869780	0.08833	N	0.918912	1	0.08975	N	0.895	0.22405	L	-0.35	0.68616	T	.	.	.	0.183	0.19861	-1.0050	0.28457	T	0.140	0.45960	T	10	0.08375749	0.13966	T	0.01228	0.30711	T	.	.	0.305	0.27485	0.425499470309	0.42167	0.319565020944504	0.31869	.	.	0.599554419518	0.52841	T	0.020185	0.15936	T	-0.198001	0.21093	T	-0.522191	0.20073	T	0.0397062115371227	0.03637	T	0.416058	0.11714	T	0.101587206	0.23998	0.18720521	0.41938	0.101587206	0.23997	0.18720521	0.41937	-4.932	0.36093	T	.	.	0.139	0.30423	B	.;.	.;.	1.528362	0.19615	14.35	0.98545553647874773	0.42783	0.17398	0.19820	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.99998874717304	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	1.17	0.19998	0.367000	0.20116	0.476000	0.18759	0.669000	0.69127	0.037000	0.20830	0.031000	0.21272	0.826000	0.38927	0.1206:0.406:0.4734:0.0	5.611	0.16684	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	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	1168.04	33	chrX	49176001	.	G	T	1168.04	.	AC=2;AF=0.167;AN=12;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.2;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	5	1	0	0
chrX	50470362	50470362	G	A	exonic	DGKK	.	nonsynonymous SNV	DGKK:NM_001013742:exon1:c.C317T:p.A106V	.	441	1071	2	2	6	12	0.0027933	.	.	.	743390	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00635762	0.0013	0.0120	0.0012	0	0	8.505e-05	0.0017	0	0.0010931	169	154602	rs188669823	0.0005	0.0005	0.0005	0.0004	0.0145	0.0005	0.0004	0.0133	0.0129	0.0145	0.0016	0	0	0	0.0020	4.159e-05	0.0011	0.0001	0.0037	0.0039	0.0040	0.0031	0.0128	0.0034	0.0033	0.0118	0.0113	0.0128	0	0.0013	0	0	0	0.0092	0	0.0039	0	.	.	.	0.27	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0032515526	0.00055	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.05946309270497902	0.05886	.	.	0.40396386385	0.25620	T	0.01173	0.10420	T	-0.895231	0.00000	T	-1.04639	0.00070	T	.	.	.	0.985301	0.94937	D	0.025654312	0.01529	0.08353947	0.19151	0.025654312	0.01529	0.08353947	0.19151	-7.343	0.56501	T	.	.	0.098	0.16054	B	.	.	-0.881733	0.00956	0.037	0.85968991013677321	0.16228	0.00346	0.01789	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999907859107743	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	0.0483456	0.07872	2.56	-5.12	0.02674	-2.783000	0.00842	0.567000	0.19568	-0.195000	0.09104	0.000000	0.06391	0.035000	0.21413	0.000000	0.00833	0.2456:0.0:0.6012:0.1532	5.653	0.16903	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	1	0	0.004135	0.013793	0.007421	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	828.83	72	chrX	50470362	.	G	A	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.195;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-2.553;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	5	0	1	0
chrX	50695789	50695789	C	T	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon2:c.G266A:p.R89K	.	1	1472	31	18	0	67	0.0222517	.	.	.	209089	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	0.0218717520706	0.0014	0.0010596	0.0021	0.0004	0.0014	0	0	0.0019	0.0079	0.0068	0.0019081	295	154602	rs148911180	0.0016	0.0016	0.0015	0.0020	0.0237	0.0016	0.0015	0.0199	0.0185	0.0004	0.0018	0.0103	3.311e-05	7.404e-05	0.0237	0.0010	0.0032	0.0076	0.0012	0.0012	0.0012	0.0011	0.0046	0.0010	0.0010	0.0027	0.0021	0.0003	0	0.0022	0.0106	0.0003	0	0.0095	0.0010	0.0052	0.0046	0.131	0.26629	T	0.481	0.11864	T	1.0	0.90584	D	0.998	0.88582	D	0.024429	0.26263	N	0.266037	0.999927	0.51308	D	0.94	0.23649	L	2.84	0.10674	T	-0.33	0.12472	N	0.127	0.12055	-1.1202	0.02319	T	0.040	0.17277	T	10	0.009545982	0.00215	T	0.021872	0.44695	T	0.254	0.56428	.	.	0.187035705434	0.18338	0.8390109747708314	0.83861	0.416103862279	0.42257	0.640063405037	0.58574	T	0.006684	0.06107	T	-0.54695	0.00304	T	-0.554287	0.16916	T	0.0245678350115657	0.01216	T	0.717928	0.33070	T	0.12738082	0.29809	0.15544306	0.36437	0.17947769	0.39020	0.1804072	0.40837	-1.708	0.02250	T	.	.	0.394	0.59516	A	.;.	.;.	3.269895	0.44751	22.0	0.96192195825031146	0.28994	0.94421	0.61111	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999998138105	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	4.565000	0.60552	5.862000	0.50443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.384	0.74406	832	0.38914	PDZ domain|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	1	0	0.007591	0.000000	0.003711	0.011858	0.000000	0.000000	0.008850	0.021053	0.08333	444.83	34	chrX	50695789	.	C	T	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=211;ExcessHet=0;FS=2.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.142;SOR=1.201	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	5	0	1	0
chrX	52645516	52645516	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C494T:p.T165I	.	576	944	2	0	0	2	0.0010582	.	.	.	743392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.0015894	0.0013	0	0	0	0	2.213e-05	0	0.0137	0.0012742	197	154602	rs200360993	0.0007	0.0007	0.0005	0.0011	0.0126	0.0006	0.0006	0.0118	0.0115	3.812e-05	0.0001	0	3.318e-05	0	0.0003	2.384e-06	0.0007	0.0126	0.0003	0.0003	0.0002	0.0004	0.0114	0.0002	0.0002	0.0080	0.0068	0	0	0.0001	0	0	0	0	0	0.0007	0.0114	0.016	0.51853	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.755552	0.09665	N	0.876709	1	0.08975	N	1.39	0.34934	L	3.08	0.08460	T	-2.67	0.57110	D	0.109	0.09490	-1.0125	0.26133	T	0.040	0.17362	T	9	0.0044635236	0.00092	T	.	.	.	0.037	0.09474	0.411	0.44723	0.15556083564	0.15200	0.02881544894136963	0.02831	0.0833042759412	0.09392	.	.	.	0.012097	0.10690	T	-0.739551	0.00021	T	-0.824703	0.01360	T	0.0479385093378901	0.05133	T	0.647535	0.25853	T	0.2246787	0.45114	0.15986992	0.37263	0.2246787	0.45114	0.15986992	0.37262	-6.654	0.51463	T	.	.	0.307	0.53518	B	.	.	1.027315	0.14072	10.64	0.9959945065165291	0.74101	0.00395	0.01981	N	AEFI	.	.	.	.	.	.	.	.	.	1.97395819386176E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.541	0.16359	-0.155000	0.10101	-6.416000	0.01404	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	Likely benign	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	1	0	0.003342	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023952	0.08333	585.83	33	chrX	52645516	.	G	A	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.239;DP=212;ExcessHet=0;FS=11.742;MLEAC=1;MLEAF=0.083;MQ=37.27;MQRankSum=-0.158;QD=14.29;ReadPosRankSum=-0.757;SOR=2.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	5	0	1	0
chrX	53549497	53549497	C	A	exonic	HUWE1	.	nonsynonymous SNV	HUWE1:NM_031407:exon67:c.G9497T:p.G3166V	Mental retardation, X-linked syndromic, Turner type	0	1510	8	4	0	16	0.00527009	.	.	.	2736828	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.550040616353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	8.71e-06	1.285e-05	0	3.269e-05	0	0	.	.	3.269e-05	0	0	0	0	0	0	0	0	0	0.067	0.35918	T	0.074	0.42976	T	0.964	0.55854	D	0.567	0.49782	P	0.001116	0.40219	N	0.248342	1	0.81001	D	0.345	0.11182	N	1.05	0.39990	T	-1.18	0.30140	N	0.238	0.35301	-0.8069	0.54736	T	0.227	0.59133	T	10	0.32468826	0.49789	T	0.550041	0.95848	D	0.136	0.36778	0.213	0.13210	0.644899875743	0.64196	0.8819716309529118	0.88165	2.26071074236	0.96182	0.637410759926	0.58195	T	0.199083	0.55625	T	-0.016934	0.49288	T	-0.262101	0.48614	T	0.696929395198822	0.40573	D	0.967603	0.88252	D	0.4019725	0.60869	0.36930722	0.62204	0.4019725	0.60869	0.36930722	0.62204	-4.3	0.28177	T	0.0959243355031814	0.06582	0.132	0.28348	B	.;.;.	.;.;.	4.390462	0.67755	25.1	0.99161652934961242	0.54127	0.99027	0.90159	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999999989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	5.286000	0.65444	7.582000	0.60992	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.349	0.87207	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1072.04	35	chrX	53549497	.	C	A	1072.04	.	AC=2;AF=0.167;AN=12;DP=199;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.49;SOR=2.235	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	1	0	0
chrX	54446384	54446384	T	G	exonic	FGD1	.	nonsynonymous SNV	FGD1:NM_004463:exon18:c.A2611C:p.I871L	Aarskog-Scott syndrome, X-linked recessive;Mental retardation, X-linked syndromic 16, X-linked recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.245935600442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.023	0.19966	B	0.000041	0.55875	D	0.000000	0.962453	0.38291	D	-0.025	0.05070	N	-0.87	0.74583	T	-0.21	0.10308	N	0.206	0.22870	-0.8539	0.51696	T	0.136	0.45241	T	10	0.32538897	0.49850	T	0.245936	0.88907	D	0.272	0.58758	0.45	0.51121	0.831963082511	0.83036	0.6687150575492907	0.66809	1.49629646265	0.86967	0.778284311295	0.78669	T	0.178952	0.52978	T	-0.0568963	0.43390	T	-0.319504	0.42630	T	0.786649465560913	0.45471	D	0.748325	0.36895	T	0.29291824	0.52263	0.1955083	0.43232	0.29291824	0.52263	0.1955083	0.43231	-3.058	0.10820	T	0.15018022906730952	0.17621	0.520	0.65502	A	.	.	2.669617	0.34803	19.73	0.88690503620606775	0.18177	0.71695	0.35124	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999995621728155	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	5.79	0.91751	3.528000	0.53279	7.793000	0.68941	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.951	0.63628	416	0.81733	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	486.83	36	chrX	54446384	.	T	G	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.925;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.558;SOR=0.833	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1126	5	0	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1081.83	431	chrX	55146088	.	G	T	1081.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.185;DP=2401;ExcessHet=0;FS=1.555;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=-0.414;SOR=0.882	GT:AD:DP:GQ:PL	0/0:378,0:378:99:0,120,1800	5	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:117,378:495:99:10640,0,1853	0	0	6	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3	13620.6	581	chrX	55146139	.	G	A	13620.6	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.573;DP=2951;ExcessHet=1.383;FS=1.119;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.753;SOR=0.666	GT:AD:DP:GQ:PL	0/1:312,222:534:99:5255,0,8196	2	0	3	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.25	12864.0	505	chrX	55146173	.	G	A	12864.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.369;DP=2600;ExcessHet=1.383;FS=0.534;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.439;SOR=0.623	GT:AD:DP:GQ:PL	0/1:292,210:502:99:5203,0,9770	3	0	3	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.25	11401.0	500	chrX	55146197	.	G	A	11401.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.09;DP=2440;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.782;SOR=0.686	GT:AD:DP:GQ:PL	0/1:255,175:430:99:4623,0,8599	3	0	3	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:88,310:398:99:11351,0,1371	0	0	6	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	530.83	287	chrX	55146214	.	G	A	530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.081;DP=1770;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.256;SOR=0.858	GT:AD:DP:GQ:PL	0/0:366,0:366:99:0,120,1800	5	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	948.83	287	chrX	55146226	.	A	G	948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=1695;ExcessHet=0;FS=8.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=0.567;SOR=0.989	GT:AD:DP:GQ:PL	0/0:359,0:359:49:0,49,9400	5	0	1	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.25	9842.03	287	chrX	55146247	.	G	C	9842.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.304;DP=1610;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.989;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,114:292:99:0|1:55146247_G_C:4148,0,6947:55146247	3	0	3	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9457.99	287	chrX	55146252	.	A	AT	9457.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.01;DP=1561;ExcessHet=1.383;FS=1.167;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.072;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,107:277:99:0|1:55146247_G_C:3950,0,6699:55146247	3	0	3	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:174,92:266:99:2827,0,6692	0	0	6	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8785.99	213	chrX	55146255	.	TG	T	8785.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.956;DP=1346;ExcessHet=1.383;FS=2.594;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.311;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,97:257:99:0|1:55146247_G_C:3591,0,6426:55146247	3	0	3	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:57,139:196:99:4802,0,1787	0	0	6	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2587.96	178	chrX	55146283	.	C	T	2587.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.931;DP=1031;ExcessHet=3.1439;FS=3.064;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-1.88;SOR=0.618	GT:AD:DP:GQ:PL	0/1:137,22:159:99:115,0,4884	2	0	4	0
chrX	57331759	57331759	C	T	exonic	FAAH2	.	stopgain	FAAH2:NM_001353840:exon4:c.C574T:p.R192X,FAAH2:NM_174912:exon4:c.C574T:p.R192X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs746695435	2.823e-05	2.823e-05	2.859e-05	2.752e-05	3.788e-05	2.023e-05	1.763e-05	2.195e-05	1.928e-05	3.788e-05	0	0	3.312e-05	0	0	3.207e-05	4.339e-05	0	8.999e-06	8.724e-06	1.286e-05	0	3.274e-05	0	0	.	.	3.274e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.028337	0.25618	U	0.290091	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319341	0.84422	D	0.272771	0.86724	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.199474	0.87222	29.2	0.9669549125255511	0.30755	0.22215	0.21671	N	AEFBI	.	.	.	.	.	.	.	.	.	2.1361716257463E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	-2.01	0.07003	0.398000	0.20624	0.110000	0.14769	-2.460000	0.00277	0.944000	0.32806	0.086000	0.22461	0.111000	0.18785	0.4896:0.3684:0.0:0.1419	4.281	0.10281	434	0.80536	Amidase signature domain	.	.	.	.	.	Likely pathogenic	1	0	0	0	0	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	1318.83	36	chrX	57331759	.	C	T	1318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.169;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.027;SOR=0.632	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1329,0,732	5	0	1	0
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R	.	432	1055	35	0	0	35	0.016317	.	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.045039	0.041096	0.044527	0.051383	0.142857	0.047059	0.035714	0.036842	0.08333	33.83	45	chrX	57592664	.	G	A	33.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.98;DP=320;ExcessHet=0;FS=18.412;MLEAC=1;MLEAF=0.083;MQ=55.82;MQRankSum=-6.294;QD=0.29;ReadPosRankSum=-3.142;SOR=3.854	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1314	5	0	1	0
chrX	57908052	57908052	A	G	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.T2369C:p.I790T	.	433	1078	6	5	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00163485047574	.	.	1.178e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs763181335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.699e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005479	0.32770	N	0.329841	1	0.08975	N	0.51	0.13489	N	2.87	0.10386	T	0.59	0.02558	N	0.058	0.02964	-0.9846	0.33927	T	0.016	0.06711	T	9	0.05132097	0.04996	T	0.001635	0.02651	T	0.028	0.06331	0.326	0.30873	0.502878934189	0.49925	0.14291496939814494	0.14214	0.80095384409	0.66250	0.658231377602	0.61156	T	0.007821	0.07202	T	-0.704886	0.00034	T	-1.06056	0.00056	T	0.039420053671842	0.03586	T	0.647735	0.25884	T	0.08784591	0.20471	0.07450294	0.16304	0.08784591	0.20471	0.07450294	0.16304	-3.495	0.16361	T	.	.	0.298	0.52857	B	.	.	0.419131	0.07896	4.602	0.097149860013812456	0.00105	0.18688	0.20362	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999872060941477	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.05	-0.779	0.10419	0.312000	0.19147	0.706000	0.20886	0.728000	0.85494	0.934000	0.32416	0.003000	0.18671	0.937000	0.47636	0.3485:0.2142:0.4374:0.0	4.158	0.09736	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3508.04	33	chrX	57908052	.	A	G	3508.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.92;QD=33.73;SOR=1.702	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1411	5	1	0	0
chrX	57910186	57910186	G	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C235G:p.H79D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000667446444109	0.0001	0.00238411	0.0012	0.0017	0.0022	0.0013	0	0.0007	0.0024	0.0028	0.0010026	155	154602	rs151072020	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0020	0.0019	5.212e-05	0.0003	2.761e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0006	0.0013	0.0011	0.0016	0	0.0010	0	0.0003	0	0	0.0004	0.0013	0.0022	1.0	0.00964	T	0.66	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.791822	0.09391	N	0.883731	1	0.08975	N	-2.24	0.00112	N	2.18	0.18875	T	0.62	0.02442	N	0.028	0.00618	-0.9647	0.38270	T	0.012	0.04653	T	9	0.0042077005	0.00084	T	6.67E-4	0.00383	T	0.041	0.10877	.	.	0.408172294925	0.40431	0.07234410521092363	0.07171	0.864492229153	0.69148	0.849402487278	0.89524	D	0.003572	0.02980	T	-0.896413	0.00000	T	-1.06596	0.00051	T	0.00734522265928516	0.00084	T	0.175982	0.01702	T	0.043308835	0.06725	0.061772823	0.11982	0.043308835	0.06725	0.061772823	0.11982	-2.674	0.07087	T	.	.	0.052	0.00207	B	.	.	-0.412555	0.02166	0.211	0.46594618899068529	0.03744	0.00665	0.02874	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999744830833	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	0.144	0.14120	-0.238000	0.08995	-0.221000	0.10763	-1.123000	0.01469	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1995:0.3486:0.1943:0.2576	0.469	0.00493	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005583	0.007246	0.009294	0.000000	0.000000	0.000000	0.000000	0.010526	0.08333	2145.83	43	chrX	57910186	.	G	C	2145.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.538;DP=274;ExcessHet=0;FS=4.239;MLEAC=1;MLEAF=0.083;MQ=59.23;MQRankSum=-1.814;QD=23.84;ReadPosRankSum=1.28;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1135:.	5	0	1	0
chrX	57910189	57910189	G	T	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C232A:p.P78T	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00308391317375	0.0003	0.00238411	0.0012	0.0018	0.0022	0.0011	0	0.0006	0.0024	0.0028	0.001022	158	154602	rs139794208	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0021	0.0018	5.216e-05	0.0003	2.776e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0007	0.0013	0.0012	0.0016	0	0.0011	0	0	0	0	0.0004	0.0020	0.0022	0.086	0.32610	T	0.182	0.29249	T	0.19	0.29379	B	0.055	0.25995	B	0.716006	0.09975	N	0.841168	1	0.08975	N	2.075	0.57047	M	2.31	0.16794	T	-0.36	0.13035	N	0.017	0.00226	-0.9820	0.34538	T	0.030	0.12717	T	9	0.0031093955	0.00052	T	0.003084	0.06666	T	0.006	0.00375	.	.	0.561599553422	0.55821	0.08546850697997276	0.08480	0.757983570904	0.64101	0.8126937747	0.83906	D	0.00372	0.03130	T	-0.746521	0.00019	T	-0.85065	0.00951	T	0.00332402600560495	0.00035	T	0.368163	0.08622	T	0.050990686	0.09298	0.07404347	0.16156	0.050990686	0.09297	0.07404347	0.16156	-4.84	0.35053	T	.	.	0.079	0.07412	B	.	.	1.433961	0.18528	13.78	0.87425387332635029	0.17218	0.04348	0.09914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999814692377	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	1.16	0.19936	0.344000	0.19703	1.429000	0.26431	0.554000	0.28208	0.015000	0.19116	0.921000	0.28324	0.034000	0.13613	0.2747:0.0:0.7253:0.0	6.466	0.21184	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006978	0.007246	0.009294	0.000000	0.000000	0.012048	0.004545	0.010526	0.08333	2089.83	43	chrX	57910189	.	G	T	2089.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.461;DP=266;ExcessHet=0;FS=4.25;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-1.642;QD=23.75;ReadPosRankSum=1.39;SOR=0.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1135:.	5	0	1	0
chrX	69162533	69162533	C	A	exonic	PJA1	.	nonsynonymous SNV	PJA1:NM_001032396:exon2:c.G541T:p.A181S,PJA1:NM_001382775:exon2:c.G706T:p.A236S,PJA1:NM_001382776:exon2:c.G541T:p.A181S,PJA1:NM_145119:exon2:c.G706T:p.A236S	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00761410109258	.	.	0.0001	0	0.0001	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs202024332	3.369e-05	3.369e-05	2.042e-05	6.051e-05	0.0004	2.486e-05	2.17e-05	0.0003	0.0002	0	0	0	0	0	0	1.662e-05	4.339e-05	0.0004	3.585e-05	3.482e-05	2.57e-05	5.928e-05	0.0004	1.137e-05	6.64e-06	1.498e-05	8.15e-06	0	0	0	0	0	0	0	5.645e-05	0	0.0004	0.094	0.32296	T	0.793	0.09555	T	0.319	0.32965	B	0.046	0.24676	B	0.422698	0.12849	U	0.625044	1	0.81001	D	2.47	0.71715	M	3.46	0.05249	T	-0.35	0.14000	N	0.081	0.16168	-1.0036	0.28874	T	0.014	0.05753	T	10	0.06730485	0.09359	T	0.007614	0.20192	T	0.043	0.11576	0.201	0.11522	0.498049835205	0.49439	0.04394102989655777	0.04338	0.403325221756	0.41274	0.456587553024	0.32844	T	0.051155	0.28800	T	-0.603536	0.00139	T	-0.750681	0.03459	T	0.0437224054497274	0.04370	T	0.675632	0.28413	T	0.077634536	0.17633	0.0951296	0.22547	0.077634536	0.17632	0.0951296	0.22547	-2.311	0.05857	T	.	.	0.091	0.18746	B	.;.;.	.;.;.	2.453956	0.31600	18.79	0.92632837891424669	0.22105	0.75315	0.36870	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998444446170326	0.36977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.19	3.19	0.35720	2.297000	0.43254	2.527000	0.33149	-0.342000	0.05666	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.8499:0.0:0.1501	5.715	0.17223	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1821.83	39	chrX	69162533	.	C	A	1821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.11;DP=348;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.294;SOR=0.496	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,103,1620	5	0	1	0
chrX	69505344	69505344	G	A	exonic	FAM155B	.	nonsynonymous SNV	FAM155B:NM_015686:exon1:c.G62A:p.C21Y	.	413	1106	2	1	0	4	0.00180505	.	.	.	3987198	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.461500007187	.	.	0.0002	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs773571962	0.0001	0.0001	8.936e-05	0.0001	0.0008	8.941e-05	8.319e-05	0.0006	0.0005	0	0	0	0	0	0.0007	8.346e-05	4.546e-05	0.0008	8.125e-05	7.839e-05	7.754e-05	8.985e-05	0.0007	4.214e-05	3.16e-05	0.0001	5.497e-05	0	0	0	0	0	0	0	0.0001	0	0.0007	0.002	0.72154	D	0.0	0.92824	D	0.994	0.66517	D	0.967	0.71530	D	.	.	.	.	0.987061	0.24555	N	0.895	0.22405	L	0.59	0.53943	T	-1.37	0.33998	N	0.116	0.10483	-0.9775	0.35571	T	0.170	0.51085	T	9	0.10705167	0.19867	T	0.462	0.94521	D	0.145	0.38592	0.391	0.41443	0.176862962021	0.17281	0.44530073501794765	0.44448	1.15342620932	0.79294	0.950813889503	0.99768	D	.	.	.	-0.427123	0.01543	T	-0.442657	0.28511	T	0.159135107448129	0.17807	T	0.543046	0.18512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44758	B	.	.	4.063378	0.60319	24.2	0.99001602699247782	0.50168	0.71891	0.35211	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999988890902065	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.92	2.97	0.33479	1.624000	0.36629	7.439000	0.58857	0.554000	0.28208	0.993000	0.37899	1.000000	0.68203	0.998000	0.85391	0.0:0.2466:0.7534:0.0	8.023	0.29582	30	0.98208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002540	0.000000	0.002336	0.004425	0.000000	0.000000	0.000000	0.006757	0.08333	539.83	33	chrX	69505344	.	G	A	539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=246;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.559;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,111,1665:.	5	0	1	0
chrX	70282854	70282854	T	C	exonic	RAB41	.	nonsynonymous SNV	RAB41:NM_001032726:exon3:c.T233C:p.I78T,RAB41:NM_001363807:exon3:c.T236C:p.I79T	.	.	.	.	.	.	.	.	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0585393714399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.001	0.04355	B	0.001094	0.40303	U	0.096298	0.999993	0.08975	N	-1.265	0.00749	N	-1.21	0.78645	T	5.63	0.00016	N	0.085	0.06190	-0.8330	0.53107	T	0.065	0.27017	T	10	0.03431824	0.01635	T	0.058539	0.67355	D	0.159	0.41286	0.347	0.34274	0.967566255448	0.96721	0.08383011192573513	0.08317	0.191132087596	0.21440	0.3105006814	0.11983	T	0.165114	0.51083	T	-0.210138	0.19360	T	-0.539625	0.18333	T	0.13814289867878	0.16113	T	0.959804	0.84855	D	0.036740117	0.04578	0.055888195	0.09886	0.036740117	0.04578	0.055888195	0.09885	-0.924	0.00919	T	.	.	0.058	0.32969	B	.;.;.	.;.;.	-0.764223	0.01180	0.057	0.86887734625357249	0.16841	0.24003	0.22257	N	AEBI	.	.	.	.	.	.	.	.	.	0.999995655693473	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	-8.44	0.00829	0.596000	0.23744	.	.	0.587000	0.30956	0.998000	0.41325	0.000000	0.08366	0.908000	0.44358	0.113:0.4165:0.3363:0.1342	4.436	0.10976	43	0.97828	.;Small GTP-binding 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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	857.04	41	chrX	70282854	.	T	C	857.04	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.96;SOR=1.697	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	5	1	0	0
chrX	71668998	71668998	G	A	exonic	LOC101059915	.	nonsynonymous SNV	LOC101059915:NM_001323075:exon1:c.G1195A:p.E399K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16333947	0.30588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735426	0.35200	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.40826	B	.;.	.;.	2.688630	0.35092	19.81	0.76884804867162326	0.11648	0.04439	0.10038	N	AEFBHI	.	.	.	.	.	.	.	.	.	7.10342751720917E-4	0.07666	.	.	.	.	.	.	.	.	.	.	.	.	0.059445	0.14276	2.95	2.07	0.26004	1.525000	0.35560	2.559000	0.33304	0.481000	0.22134	0.004000	0.16614	0.473000	0.25062	0.233000	0.22815	0.1613:0.0:0.8387:0.0	5.55	0.16372	124	0.95048	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1555.83	82	chrX	71668998	.	G	A	1555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.263;DP=433;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.57;MQRankSum=-1.362;QD=9.32;ReadPosRankSum=-0.995;SOR=0.685	GT:AD:DP:GQ:PL	0/1:102,65:167:99:1566,0,2708	5	0	1	0
chrX	72131205	72131205	G	T	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C336A:p.S112R	.	422	1090	6	4	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0008	0.0018543	0.0029	0	0.0005	0.0002	0	0.0019	0.0029	0.0163	0.0020892	323	154602	rs199597770	0.0018	0.0018	0.0015	0.0023	0.0114	0.0017	0.0017	0.0107	0.0104	7.627e-05	0.0002	0.0049	3.328e-05	0	0.0037	0.0013	0.0016	0.0114	0.0010	0.0011	0.0009	0.0012	0.0098	0.0009	0.0008	0.0067	0.0057	3.401e-05	0	0.0007	0.0062	0	0	0.0046	0.0012	0.0007	0.0098	.	.	.	0.005	0.72224	D	0.578	0.38765	P	0.157	0.34536	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9700	0.37200	T	0.017	0.06759	T	8	0.0030177236	0.00049	T	.	.	.	.	.	0.113	0.02240	0.0297737177859	0.01360	0.19254059969494955	0.19172	.	.	0.506362736225	0.39714	T	9.68E-4	0.00509	T	-0.667101	0.00057	T	-0.721626	0.04717	T	0.00528180261789687	0.00057	T	0.484852	0.14769	T	0.14210646	0.32717	0.15734774	0.36797	0.14210646	0.32716	0.15734774	0.36796	-3.127	0.11609	T	.	.	0.316	0.54198	B	.	.	1.606891	0.20534	14.79	0.98763664745302415	0.45862	0.11056	0.16377	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999942450676626	0.47345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	0.457	0.15874	-0.055000	0.11763	0.865000	0.22263	0.672000	0.70159	0.000000	0.06391	0.488000	0.25138	0.921000	0.45669	0.5028:0.0:0.4972:0.0	6.331	0.20477	264	0.89640	.	.	.	.	.	.	Uncertain significance	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	0.008293	0.000000	0.005566	0.019920	0.000000	0.011765	0.008969	0.005263	0.08333	712.83	46	chrX	72131205	.	G	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.01;DP=277;ExcessHet=0;FS=3.329;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.55;SOR=1.179	GT:AD:DP:GQ:PL	0/1:46,29:75:99:723,0,1414	5	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	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	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.1667	104.06	113	chrX	74591813	.	G	A	104.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.512;DP=372;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.53;MQRankSum=-4.285;QD=1.06;ReadPosRankSum=-2.139;SOR=0.755	GT:AD:DP:GQ:PL	0/0:89,0:89:77:0,77,2888	4	0	2	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,19:228:99:0|1:74591902_T_A:169,0,8719:74591902	1	0	5	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5: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	.	.	.	.	.	.	.	.	0.158	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	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.1667	836.06	37	chrX	74591957	.	C	T	836.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.726;DP=418;ExcessHet=0.4139;FS=5.348;MLEAC=2;MLEAF=0.167;MQ=58.46;MQRankSum=-9.671;QD=3.09;ReadPosRankSum=-2.525;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	4	0	2	0
chrX	77682450	77682450	C	A	exonic	ATRX	.	nonsynonymous SNV	ATRX:NM_138270:exon8:c.G2692T:p.V898F,ATRX:NM_000489:exon9:c.G2806T:p.V936F	Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome, X-linked dominant;Mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1150981	Alpha_thalassemia-X-linked_intellectual_disability_syndrome	MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.114195488404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	0.0005	3e-07	1.1e-07	8.518e-05	3.547e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.053	0.48080	T	0.008	0.14655	B	0.006	0.12133	B	0.487789	0.12091	N	0.766232	1	0.08975	N	.	.	.	-2.93	0.91851	D	-0.55	0.16799	N	0.123	0.16864	-0.3674	0.73040	T	0.533	0.82685	D	10	0.07415575	0.11297	T	0.114195	0.79296	D	0.162	0.41843	0.198	0.11110	0.476659674421	0.47294	0.11060837042584418	0.10989	0.0310373370127	0.03212	0.294697761536	0.09613	T	0.014986	0.16908	T	-0.116545	0.33690	T	-0.405186	0.32782	T	0.0323680683570883	0.02367	T	0.877512	0.59309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.25034	B	.;.;.;.	.;.;.;.	1.327979	0.17329	13.10	0.5005886321335683	0.04318	0.23267	0.22020	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999441499386051	0.39736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	3.05	0.34272	0.501000	0.22286	0.569000	0.19588	0.599000	0.40250	0.000000	0.06391	0.956000	0.29165	0.583000	0.30967	0.0:0.7849:0.0:0.2151	10.772	0.45530	200	0.92234	.;.;.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.08333	1272.83	33	chrX	77682450	.	C	A	1272.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=266;ExcessHet=0;FS=1.654;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.551;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	5	0	1	0
chrX	85282243	85282244	TG	-	exonic	POF1B	.	frameshift deletion	POF1B:NM_001307940:exon16:c.1723_1724del:p.Q575Dfs*5,POF1B:NM_024921:exon16:c.1723_1724del:p.Q575Dfs*5	Premature ovarian failure 2B	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437760308	0	9.108e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.974e-06	8.716e-06	1.288e-05	0	1.889e-05	0	0	.	.	0	0	0	0	0	0	0	1.889e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1436.01	35	chrX	85282242	.	CTG	C	1436.01	.	AC=2;AF=0.167;AN=12;DP=192;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.85;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	5	1	0	0
chrX	85304353	85304353	C	T	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon14:c.G1556A:p.R519H,POF1B:NM_024921:exon14:c.G1556A:p.R519H	Premature ovarian failure 2B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0026402822424	.	.	8.344e-05	0	0.0007	0	0	0	0	0.0001	5.82e-05	9	154602	rs774259150	2.241e-05	2.367e-05	1.926e-05	2.905e-05	0.0003	1.516e-05	1.274e-05	0.0002	0.0001	0	0.0003	0	3.428e-05	0	0	1.087e-05	2.236e-05	4.071e-05	1.804e-05	2.613e-05	2.579e-05	0	3.801e-05	3e-06	1.12e-06	6.3e-06	2.36e-06	0	0	0	0	0	0	0	3.801e-05	0	0	0.137	0.25979	T	0.267	0.22561	T	0.007	0.14184	B	0.008	0.13708	B	0.000686	0.42383	N	0.232989	0.642577	0.30603	N	1.5	0.37844	L	2.69	0.12268	T	-2.14	0.48523	N	0.091	0.06990	-1.0510	0.14119	T	0.022	0.09330	T	10	0.025731891	0.00758	T	0.00264	0.05377	T	0.034	0.08419	0.111	0.02112	0.235038932564	0.23097	0.125146134774966	0.12440	0.219309380076	0.24467	0.336680591106	0.15940	T	0.222131	0.58589	T	-0.587096	0.00175	T	-0.772231	0.02695	T	0.080742691996695	0.10082	T	0.835416	0.50550	T	0.10728389	0.25367	0.11678676	0.28192	0.10728389	0.25367	0.11678676	0.28191	-4.594	0.32096	T	.	.	0.075	0.05360	B	.;.	.;.	2.086198	0.26537	17.15	0.98256857535621023	0.39630	0.53196	0.29313	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0125546278166533	0.12343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	3.67	0.41236	0.999000	0.29358	-0.264000	0.10402	0.599000	0.40250	0.998000	0.41325	0.004000	0.18990	0.997000	0.79791	0.0:0.7458:0.0:0.2542	8.815	0.34148	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	446.83	29	chrX	85304353	.	C	T	446.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.42;DP=158;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=2.04;SOR=0.793	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,720	5	0	1	0
chrX	85305874	85305874	T	C	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon13:c.A1354G:p.K452E,POF1B:NM_024921:exon13:c.A1354G:p.K452E	Premature ovarian failure 2B	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0678481111897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028934406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.959e-06	8.703e-06	1.286e-05	0	3.25e-05	0	0	.	.	3.25e-05	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.026	0.56192	D	0.998	0.73220	D	0.946	0.68276	D	0.000000	0.84330	D	0.044514	0.981085	0.39737	D	1.795	0.47270	L	2.57	0.13552	T	-1.62	0.41809	N	0.429	0.46835	-1.0877	0.05925	T	0.083	0.32585	T	10	0.39383045	0.55082	T	0.067848	0.70285	D	0.115	0.32236	0.177	0.08379	0.469165163779	0.46546	0.33074967611215494	0.32987	0.527645820895	0.50370	0.66389465332	0.61966	T	0.41326	0.76718	T	-0.0622888	0.42547	T	-0.32725	0.41774	T	0.929773926734924	0.59405	D	0.730727	0.34650	T	0.64149255	0.74910	0.57708025	0.75495	0.64149255	0.74912	0.57708025	0.75496	-3.495	0.16361	T	.	.	0.348	0.56436	A	.;.	.;.	3.471363	0.48428	22.6	0.99852095696660281	0.93102	0.94944	0.62875	D	AEGI	.	.	.	.	.	.	.	.	.	0.636203819464781	0.22012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	3.723000	0.54682	7.709000	0.66702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.833	0.62885	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1066.83	33	chrX	85305874	.	T	C	1066.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.88;DP=268;ExcessHet=0;FS=4.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.38;SOR=1.193	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	5	0	1	0
chrX	93672191	93672191	C	A	exonic	NAP1L3	.	nonsynonymous SNV	NAP1L3:NM_004538:exon1:c.G1114T:p.V372L	.	429	1090	1	2	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00270932389562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.463e-06	5.463e-06	4.084e-06	8.251e-06	7.388e-05	1.97e-06	1.29e-06	2.523e-05	1.461e-05	0	0	0	0	0	0	1.187e-06	2.169e-05	7.388e-05	0	8.709e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.343	0.12592	T	0.438	0.13403	T	0.438	0.35858	B	0.109	0.31370	B	0.002722	0.36034	N	0.267267	0.998345	0.22212	N	1.305	0.32671	L	0.75	0.50192	T	-2.12	0.48184	N	0.077	0.05162	-1.0598	0.11805	T	0.052	0.22037	T	10	0.19779253	0.35723	T	0.002709	0.05579	T	0.122	0.33800	0.709	0.84509	0.395441342475	0.39163	0.6043843586056695	0.60369	0.220482362974	0.24593	0.362666368484	0.19773	T	0.042006	0.27527	T	-0.386447	0.02835	T	-0.792881	0.02086	T	0.18413425116686	0.19492	T	0.769823	0.39947	T	0.09325783	0.21899	0.099532515	0.23768	0.09325783	0.21898	0.099532515	0.23768	-6.45	0.49899	T	.	.	0.141	0.30842	B	.;.	.;.	0.831287	0.12026	8.584	0.71241912507003069	0.09563	0.59446	0.30918	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999856806289598	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.51	-2.76	0.05547	0.189000	0.16845	0.858000	0.22201	-0.182000	0.10109	0.965000	0.33920	0.998000	0.33993	0.972000	0.54974	0.1363:0.3378:0.222:0.3039	1.119	0.01615	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.08333	1521.83	140	chrX	93672191	.	C	A	1521.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.013;DP=311;ExcessHet=0;FS=0.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.271;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	5	0	1	0
chrX	93673154	93673156	TGC	-	exonic	NAP1L3	.	nonframeshift deletion	NAP1L3:NM_004538:exon1:c.149_151del:p.S50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0572	.	0.0074	0.0070	0.0143	0.0081	0.0033	0.0068	0.0084	0.0049	0.0001921	5	26028	rs748285907	8.938e-05	0.0045	0.0001	5.422e-05	0.0004	7.478e-05	6.949e-05	0.0003	0.0002	0.0002	0.0001	0.0001	0.0004	0.0004	0	5.573e-05	2.218e-05	0.0002	4.515e-05	0.0001	6.448e-05	0	0.0003	1.72e-05	1.059e-05	1.084e-05	4.05e-06	6.547e-05	0	0	0	0.0003	0	0	3.794e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	34.79	44	chrX	93673153	.	GTGC	G	34.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.337;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.861;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	5	0	1	0
chrX	100296324	100296324	T	G	exonic	PCDH19	.	nonsynonymous SNV	PCDH19:NM_001105243:exon5:c.A3259C:p.N1087H,PCDH19:NM_020766:exon5:c.A3256C:p.N1086H,PCDH19:NM_001184880:exon6:c.A3400C:p.N1134H	Epileptic encephalopathy, early infantile, 9, X-linked	.	.	.	.	.	.	.	.	.	.	195290	not_specified|not_provided|Developmental_and_epileptic_encephalopathy,_9|Inborn_genetic_diseases|PCDH19-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010246,MedGen:C1848137,OMIM:300088,Orphanet:101039,Orphanet:2076|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.061	.	.	0.00423841	0.0013	0	0.0001	0.0170	0	2.084e-05	0	0	0.0011513	178	154602	rs141816797	0.0007	0.0007	0.0007	0.0007	0.0244	0.0007	0.0006	0.0229	0.0224	0	0	0	0.0244	0	0.0002	1.544e-05	0.0003	9.235e-05	0.0006	0.0006	0.0006	0.0005	0.0173	0.0005	0.0004	0.0138	0.0126	3.24e-05	0	9.411e-05	0	0.0173	0	0	0	0.0007	0	0.185	0.28271	T	0.156	0.31833	T	0.07	0.26429	B	0.045	0.31021	B	0.003655	0.34662	N	0.334506	0.999903	0.19694	N	0	0.06538	N	0.65	0.52642	T	-0.61	0.18248	N	0.146	0.14763	-1.0462	0.15476	T	0.046	0.19640	T	10	0.0046945214	0.00099	T	.	.	.	0.061	0.17616	.	.	0.47098275866	0.46727	0.059731641648048	0.05913	0.522592563707	0.49982	0.274045228958	0.06676	T	0.027375	0.20061	T	-0.741719	0.00020	T	-0.823924	0.01375	T	0.0126845625994233	0.00213	T	0.614838	0.23473	T	0.06481957	0.13790	0.08523895	0.19667	0.07068339	0.15589	0.0712635	0.15237	-3.93	0.23353	T	.	.	0.087	0.11269	B	.;.;.	.;.;.	0.750142	0.11199	7.833	0.74957377138636383	0.10891	0.87704	0.47333	D	AEFDGBHI	.	.	.	.	.	.	.	.	.	0.644964838093454	0.22092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	2.8	0.31881	3.007000	0.49223	0.842000	0.22053	-2.857000	0.00171	0.992000	0.37556	0.292000	0.24171	0.776000	0.36750	0.0:0.6705:0.12:0.2095	7.269	0.25419	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1337.04	34	chrX	100296324	.	T	G	1337.04	.	AC=2;AF=0.167;AN=12;DP=218;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.71;SOR=1.154	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1276	5	1	0	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H,TAF7L:NM_024885:exon13:c.G1373A:p.R458H	.	2	1488	22	10	0	42	0.0139165	.	.	.	1196264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.035368	0.020408	0.029685	0.086957	0.071429	0.035294	0.008850	0.021053	0.08333	437.83	34	chrX	101269209	.	C	T	437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.765;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.06;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	5	0	1	0
chrX	101491684	101491684	T	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.T3095C:p.I1032T	.	434	1067	11	10	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00397351	0.0085	0	0	0	0	0.0028	0.0115	0.0135	0.0017076	264	154602	rs189010224	0.0076	0.0072	0.0074	0.0080	0.0147	0.0074	0.0074	0.0138	0.0134	0.0012	0.0018	0.0012	0.0003	0.0044	0.0049	0.0081	0.0067	0.0147	0.0050	0.0051	0.0053	0.0044	0.0132	0.0047	0.0046	0.0099	0.0087	0.0008	0	0.0013	0.0004	0.0006	0.0035	0	0.0088	0.0006	0.0132	.	.	.	0.304	0.20100	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	.	.	.	0.006	0.00044	-1.0131	0.25943	T	0.047	0.20195	T	4	0.0029310286	0.00047	T	.	.	.	0.012	0.01476	.	.	0.110078149338	0.10416	0.03857966321723369	0.03803	.	.	0.307763010263	0.11569	T	.	.	.	-1.00578	0.00000	T	-1.20648	0.00001	T	0.00184075748743393	0.00019	T	0.369963	0.08710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32851	B	.	.	-0.401916	0.02206	0.220	0.54159297703291276	0.05082	0.00138	0.00846	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.979058251212702	0.29986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.35	-2.5	0.06015	-0.766000	0.04831	-0.233000	0.10659	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.1492:0.1649:0.1463:0.5396	2.151	0.03567	124	0.95048	.	.	.	.	.	.	Uncertain significance	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	.	.	.	.	.	.	.	.	0.08333	2149.83	153	chrX	101491684	.	T	C	2149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=353;ExcessHet=0;FS=1.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.518;SOR=0.84	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1492	5	0	1	0
chrX	101884594	101884594	C	T	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon7:c.G833A:p.R278Q,ZMAT1:NM_001282401:exon9:c.G320A:p.R107Q,ZMAT1:NM_001282400:exon10:c.G320A:p.R107Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00137151496784	9.5e-05	.	9.14e-05	0.0001	0.0001	0	0	0.0001	0.0016	0	7.12e-05	11	154602	rs147524708	0.0001	0.0001	9.259e-05	0.0001	0.0017	8.878e-05	8.32e-05	0.0008	0.0006	0.0001	0.0002	0	0	0	0.0017	0.0001	0.0001	1.849e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.007e-05	7.277e-05	8.873e-05	6.565e-05	6.548e-05	0	9.571e-05	0	0	0	0.0141	0.0002	0.0007	0	0.84	0.02811	T	0.414	0.14369	T	.	.	.	.	.	.	0.027182	0.01663	N	2.250350	1	0.08975	N	.	.	.	2.52	0.14160	T	0.23	0.04613	N	0.056	0.02759	-1.0324	0.19681	T	0.021	0.08639	T	10	0.042752802	0.03055	T	0.001372	0.01986	T	0.015	0.02232	.	.	0.183819452728	0.17975	0.030543576056170176	0.03003	0.103709207831	0.11733	0.171549230814	0.00038	T	.	.	.	-0.793525	0.00009	T	-1.10332	0.00026	T	0.0220666661955845	0.00916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.04119	B	.;.	.;.	-1.807453	0.00155	0.002	0.50834952525343302	0.04454	0.00150	0.00907	N	AEFGI	.	.	.	.	.	.	.	.	.	0.99895562178827	0.38059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	-8.64	0.00758	-1.559000	0.02266	-3.706000	0.02591	-2.046000	0.00421	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.6614:0.1205:0.2181	11.457	0.49437	32	0.98147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1593.83	39	chrX	101884594	.	C	T	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3;DP=333;ExcessHet=0;FS=3.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.44;SOR=0.986	GT:AD:DP:GQ:PL	0/1:86,60:146:99:1604,0,2223	5	0	1	0
chrX	103500108	103500108	T	C	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.A649G:p.T217A	.	0	1520	1	1	0	3	0.000985869	.	.	.	2327667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.000749242658125	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201466501	0.0006	0.0010	0.0004	0.0010	0.0046	0.0006	0.0005	0.0030	0.0025	0.0002	0.0001	0	0.0003	0.0003	0.0046	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0003	0.0007	0.0004	0.0003	0.0006	0.0005	0.0003	0	0	0	0.0003	0.0003	0	0.0007	0	0	1.0	0.00964	T	0.732	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.040445	0.24057	N	0.157981	0.999938	0.19363	N	-0.035	0.05024	N	1.04	0.40218	T	0.15	0.05310	N	0.055	0.02658	-1.0106	0.26729	T	0.028	0.11882	T	10	0.052396297	0.05268	T	7.49E-4	0.00529	T	0.045	0.12272	.	.	0.701518117412	0.69893	0.07523847369235283	0.07459	0.790129032098	0.65737	0.325451135635	0.14246	T	0.00107	0.00595	T	-0.740552	0.00020	T	-1.00938	0.00122	T	0.00820716696809511	0.00098	T	0.561944	0.19701	T	0.02895921	0.02314	0.051735375	0.08386	0.02895921	0.02313	0.051735375	0.08385	-3.439	0.15587	T	.	.	0.054	0.00382	B	.;.	.;.	-0.370680	0.02325	0.248	0.24587499384108685	0.01094	0.06076	0.12049	N	AEFGI	.	.	.	.	.	.	.	.	.	0.020826391137973	0.13294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	1.049000	0.30001	0.575000	0.19646	-0.685000	0.04181	0.969000	0.34210	0.481000	0.25102	0.082000	0.17360	0.0:0.6754:0.0:0.3246	4.462	0.11088	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.1667	1680.04	34	chrX	103500108	.	T	C	1680.04	.	AC=2;AF=0.167;AN=12;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.87;QD=28.25;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	1	0	0
chrX	103500110	103500110	C	A	exonic	RAB40A	.	nonsynonymous SNV	RAB40A:NM_080879:exon3:c.G647T:p.S216I	.	0	1520	1	1	0	3	0.000985869	.	.	.	2318063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00113995960731	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs200647197	0.0006	0.0010	0.0004	0.0010	0.0048	0.0006	0.0005	0.0032	0.0027	0.0002	0.0001	0	0.0003	0.0003	0.0048	0.0007	0.0003	0.0005	0.0004	0.0005	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0	0	0.0003	0.0002	0	0.0007	0	0	0.377	0.11298	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	0.135365	0.02842	N	10.000100	0.999992	0.08975	N	-0.69	0.01958	N	0.84	0.47477	T	0.44	0.03243	N	0.067	0.03956	-1.0211	0.23357	T	0.058	0.24167	T	10	0.05337599	0.05519	T	0.00114	0.01410	T	0.110	0.31079	.	.	0.584859779323	0.58159	0.08681265634083288	0.08615	0.943704141384	0.72318	0.35770714283	0.19050	T	0.001953	0.01365	T	-0.684735	0.00045	T	-0.929202	0.00335	T	0.0127723858185158	0.00217	T	0.050295	0.00357	T	0.05126436	0.09387	0.06071687	0.11608	0.05126436	0.09386	0.06071687	0.11608	-5.785	0.44443	T	.	.	0.082	0.08512	B	.;.	.;.	-0.639942	0.01466	0.090	0.38936727241777819	0.02656	0.02828	0.07569	N	AEFGI	.	.	.	.	.	.	.	.	.	0.959111409780341	0.28405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	-0.451	0.11604	2.233000	0.42672	-1.185000	0.06085	-2.838000	0.00176	0.943000	0.32764	0.000000	0.08366	0.035000	0.13729	0.5906:0.2044:0.0:0.205	3.335	0.06682	264	0.89640	SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain;SOCS box domain|SOCS box domain|SOCS box domain|SOCS box domain	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.1667	1680.04	34	chrX	103500110	.	C	A	1680.04	.	AC=2;AF=0.167;AN=12;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.87;QD=31.09;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	1	0	0
chrX	107601395	107601395	A	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.A3455G:p.E1152G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0257081115772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210339592	1.834e-06	1.821e-06	1.364e-06	2.798e-06	2.385e-06	3.1e-07	1.1e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.385e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.053	0.47336	T	.	.	.	.	.	.	0.605028	0.10921	N	0.819661	0.998719	0.21964	N	0.895	0.22405	L	1.82	0.25018	T	-1.49	0.36385	N	0.213	0.23758	-1.0318	0.19873	T	0.052	0.22192	T	8	0.20523992	0.36743	T	0.025708	0.48665	D	0.072	0.21020	0.236	0.16608	0.361328159215	0.35739	0.31934661233791595	0.31847	0.580823813372	0.53909	.	.	.	0.006423	0.15359	T	-0.201739	0.20554	T	-0.525746	0.19713	T	0.675305724143982	0.39575	D	0.737926	0.35508	T	0.15269496	0.34649	0.30972534	0.56986	0.15269496	0.34648	0.30972534	0.56985	-3.92	0.22602	T	.	.	0.149	0.38747	B	.;.	.;.	3.360467	0.46396	22.3	0.9991649254772399	0.98449	0.93671	0.58860	D	AEFBI	.	.	.	.	.	.	.	.	.	0.195084564669686	0.18048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.74	3.74	0.42108	3.612000	0.53888	7.618000	0.62188	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.569000	0.30626	1.0:0.0:0.0:0.0	9.595	0.38732	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	916.83	70	chrX	107601395	.	A	G	916.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.177;SOR=0.601	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.08333	2564.83	33	chrX	107981733	.	G	C	2564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=381;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.52;SOR=0.714	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2575,0,2654	5	0	1	0
chrX	108733686	108733686	T	C	exonic	IRS4	.	nonsynonymous SNV	IRS4:NM_001379150:exon1:c.A2659G:p.K887E,IRS4:NM_003604:exon1:c.A2659G:p.K887E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00535564002164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.732e-06	2.732e-06	0	8.251e-06	3.562e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.562e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.125	0.35330	T	0.0	0.02946	B	0.001	0.04355	B	0.138191	0.18386	N	0.537042	0.999058	0.21670	N	1.4	0.35362	L	1.32	0.35219	T	-0.95	0.25332	N	0.088	0.06587	-1.0301	0.20422	T	0.068	0.27743	T	10	0.049285114	0.04496	T	0.005356	0.13710	T	0.024	0.04979	0.346	0.34112	0.0934897674506	0.08844	0.17192719265096076	0.17112	0.692044918232	0.60635	0.294981390238	0.09655	T	0.276541	0.64913	T	-0.409962	0.01989	T	-0.826658	0.01323	T	0.0584618784487247	0.06924	T	0.306769	0.05902	T	0.18273875	0.39508	0.12348185	0.29775	0.18273875	0.39508	0.12348185	0.29774	-4.004	0.23864	T	.	.	0.103	0.18289	B	.	.	0.738077	0.11073	7.725	0.98068107871361898	0.38007	0.22295	0.21698	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999952012899906	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2	-1.4	0.08499	0.128000	0.15636	0.248000	0.16392	-1.541000	0.00979	0.055000	0.21596	0.698000	0.26216	0.023000	0.12082	0.1181:0.2134:0.1198:0.5488	2.161	0.03591	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1372.83	37	chrX	108733686	.	T	C	1372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.186;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.738;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1155:.	5	0	1	0
chrX	109409060	109409060	T	C	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon9:c.A1900G:p.I634V	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.10111029552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897483162	1.003e-06	2.743e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.335e-05	0	8.916e-06	8.701e-06	1.285e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.32	0.13566	T	0.481	0.11864	T	0.097	0.25541	B	0.257	0.39298	B	0.000005	0.62929	D	0.063176	0.556772	0.31290	N	0.33	0.10399	N	-1.59	0.82076	D	-0.92	0.24676	N	0.277	0.31365	-0.6609	0.62236	T	0.263	0.63372	T	10	0.34920254	0.51818	T	0.10111	0.77379	D	0.229	0.52916	0.616	0.75000	0.722721478605	0.72027	0.4736693689751208	0.47285	0.472542371218	0.46495	0.460184276104	0.33336	T	0.182717	0.53483	T	-0.129933	0.31506	T	-0.424416	0.30571	T	0.529239654541016	0.33706	D	0.940606	0.77652	D	0.27620864	0.50682	0.14576554	0.34559	0.27620864	0.50682	0.14576554	0.34559	-3.149	0.11867	T	.	.	0.196	0.41738	B	.	.	2.684290	0.35026	19.79	0.98664216578826136	0.44372	0.88574	0.48565	D	AEFI	.	.	.	.	.	.	.	.	.	0.00597955320572845	0.11094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	2.822000	0.47773	1.663000	0.27911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2204:0.0:0.0:0.7795	6.423	0.20956	410	0.82135	Serine-threonine/tyrosine-protein kinase, catalytic 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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3193.83	34	chrX	109409060	.	T	C	3193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.627;DP=414;ExcessHet=0;FS=4.538;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.382;SOR=0.457	GT:AD:DP:GQ:PL	0/1:106,131:237:99:3204,0,2678	5	0	1	0
chrX	109409169	109409169	C	G	splicing	GUCY2F	NM_001522:exon9:c.1792-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36807	0.87886	D	0.29093	0.87731	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.213041	0.63670	24.6	0.99474592219775226	0.66525	0.99496	0.96736	D	AEFI	.	.	.	.	.	.	.	.	.	0.999918598691818	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	0.976215	0.79390	4.04	4.04	0.46262	7.671000	0.82936	2.671000	0.33948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	13.137	0.58835	410	0.82135	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2178.83	34	chrX	109409169	.	C	G	2178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.227;DP=344;ExcessHet=0;FS=2.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.513;SOR=0.949	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	5	0	1	0
chrX	110451074	110451074	G	A	exonic	RTL9	.	nonsynonymous SNV	RTL9:NM_001385449:exon3:c.G457A:p.A153T,RTL9:NM_020769:exon3:c.G457A:p.A153T	.	435	1071	12	4	0	20	0.00925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0080	0.00211921	0.0087	0.0007	0.0068	0	0.0119	0.0124	0.0126	0.0039	0.0080917	1251	154602	rs41304450	0.0096	0.0096	0.0097	0.0095	0.0176	0.0095	0.0094	0.0144	0.0132	0.0012	0.0059	0.0180	6.622e-05	0.0146	0.0176	0.0102	0.0108	0.0039	0.0073	0.0074	0.0074	0.0072	0.0109	0.0069	0.0068	0.0102	0.0099	0.0013	0.0029	0.0050	0.0200	0	0.0109	0.0046	0.0109	0.0125	0.0026	1.0	0.00964	T	0.905	0.03004	T	0.0	0.02946	B	0.001	0.04355	B	0.593096	0.05603	N	1.303370	1	0.08975	N	.	.	.	0.91	0.44856	T	1.66	0.00606	N	0.018	0.00308	-1.0491	0.14649	T	0.026	0.10954	T	9	0.0024462938	0.00037	T	.	.	.	0.013	0.01715	.	.	0.043077524339	0.03247	0.12032266470177874	0.11959	0.0483123807516	0.05281	0.331653416157	0.15185	T	4.22E-4	0.00140	T	-0.961969	0.00000	T	-1.14419	0.00010	T	0.00150134173263901	0.00015	T	0.344066	0.07525	T	0.04297989	0.06616	0.073714465	0.16050	0.04297989	0.06616	0.073714465	0.16050	-2.078	0.03490	T	.	.	0.066	0.02285	B	.;.	.;.	-2.156037	0.00071	0.001	0.10006586930208605	0.00116	0.00297	0.01586	N	AEFBI	.	.	.	.	.	.	.	.	.	0.43296194938506	0.20388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	-5.03	0.02751	-1.035000	0.03674	-0.224000	0.10736	-1.463000	0.01080	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.27:0.0:0.4169:0.3132	4.225	0.10033	116	0.95299	.;.	.	.	.	.	.	Uncertain significance	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	0.019364	0.006803	0.029685	0.023715	0.071429	0.035294	0.004425	0.000000	0.08333	2605.83	37	chrX	110451074	.	G	A	2605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.34;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.44;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1305	5	0	1	0
chrX	115189569	115189569	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G128A:p.R43Q	.	426	1066	21	9	0	39	0.0179641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	.	.	0.0015894	0.0034	0	0	0	0	0.0010	0	0.0120	0.0011319	175	154602	rs201501183	0.0008	0.0008	0.0006	0.0012	0.0099	0.0007	0.0007	0.0092	0.0089	7.924e-05	0.0006	5.349e-05	0	2.622e-05	0.0071	0.0003	0.0015	0.0099	0.0008	0.0008	0.0007	0.0008	0.0088	0.0006	0.0006	0.0061	0.0052	0.0002	0	0.0025	0	0	0	0.0046	0.0005	0.0019	0.0088	0.018	0.50676	D	0.046	0.49120	D	0.984	0.60733	D	0.701	0.54186	P	.	.	.	.	1	0.81001	D	2.12	0.58754	M	-2.01	0.85468	D	-2.98	0.62008	D	0.096	0.07673	-0.1661	0.78522	T	0.444	0.78081	T	9	0.009803534	0.00220	T	.	.	.	0.384	0.70112	.	.	0.148003135375	0.14442	0.5471793712768115	0.54643	.	.	0.336002320051	0.15839	T	0.008141	0.07488	T	-0.339229	0.05442	T	-0.25066	0.49752	T	0.0727188121991527	0.09028	T	0.89941	0.64770	D	0.15032348	0.34228	0.14667484	0.34741	0.15032348	0.34228	0.14667484	0.34740	-4.732	0.33789	T	.	.	0.218	0.44860	B	.	.	2.636768	0.34303	19.59	0.99569811882701675	0.72318	0.58149	0.30564	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0192560202852358	0.13144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.69	0.17203	4.683000	0.61367	4.551000	0.43803	0.373000	0.20310	1.000000	0.71638	0.875000	0.27637	0.008000	0.08271	0.0:0.433:0.5669:1.0E-4	4.336	0.10524	937	0.14592	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010497	0.006803	0.009381	0.000000	0.000000	0.025000	0.008969	0.026882	0.1667	3628.04	34	chrX	115189569	.	G	A	3628.04	.	AC=2;AF=0.167;AN=12;DP=299;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.55;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	5	1	0	0
chrX	115191332	115191332	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1891C:p.E631Q	.	440	1060	17	5	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00109112982056	.	0.000529801	0.0027	0.0006	0.0032	0	0.0067	0.0017	0	0.0042	0.0005627	87	154602	rs201518011	0.0021	0.0020	0.0021	0.0022	0.0105	0.0021	0.0020	0.0079	0.0071	0.0002	0.0003	0.0007	0	0.0029	0.0105	0.0022	0.0019	0.0034	0.0009	0.0010	0.0011	0.0005	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0003	0.0012	0	0.0009	0.0060	0.0015	0.0007	0.0008	0.0	0.91255	D	0.48	0.11899	T	0.831	0.46109	P	0.557	0.49454	P	.	.	.	.	0.999986	0.18198	N	0.55	0.14455	N	3.42	0.05507	T	-0.27	0.11366	N	0.028	0.00618	-0.9662	0.37974	T	0.012	0.04747	T	9	0.0048033893	0.00102	T	0.001091	0.01287	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.008967215656300098	0.00859	.	.	0.48147302866	0.36260	T	0.003683	0.03091	T	-0.816133	0.00006	T	-0.949398	0.00264	T	0.065986807732433	0.08075	T	0.393061	0.09795	T	0.14561872	0.33372	0.14239101	0.33876	0.14561872	0.33372	0.14239101	0.33875	-9.698	0.72084	D	.	.	0.353	0.56773	A	.	.	1.536580	0.19710	14.40	0.9866867258465577	0.44442	0.00764	0.03159	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0023180949260896	0.09317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	-0.557	0.11209	-1.529000	0.02327	0.708000	0.20910	0.306000	0.19039	0.000000	0.06391	0.008000	0.19753	0.001000	0.02609	0.3291:0.0:0.6709:0.0	4.319	0.10446	937	0.14592	.	.	.	.	.	.	Uncertain significance	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	0.003911	0.000000	0.000000	0.000000	0.000000	0.076923	0.007463	0.000000	0.1	1519.7	179	chrX	115191332	.	G	C	1519.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.148;DP=911;ExcessHet=0;FS=1.273;MLEAC=1;MLEAF=0.1;MQ=59.29;MQRankSum=1.26;QD=7.71;ReadPosRankSum=0.85;SOR=0.812	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	4	0	1	1
chrX	116446810	116446810	G	C	exonic	SLC6A14	.	nonsynonymous SNV	SLC6A14:NM_007231:exon7:c.G859C:p.E287Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0763836950307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.152e-07	9.106e-07	1.362e-06	0	1.194e-06	0	0	.	.	0	0	0	0	0	0	1.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.98	0.59353	D	0.926	0.66095	D	0.000002	0.62929	D	0.098710	0.999715	0.48481	D	3.175	0.88760	M	-0.94	0.75325	T	.	.	.	0.243	0.27435	0.256	0.86846	D	0.581	0.84911	D	10	0.63529855	0.68747	D	0.076384	0.72517	D	.	.	0.686	0.82367	0.925039501145	0.92427	0.45431562599555975	0.45349	.	.	0.404104053974	0.25640	T	0.085238	0.37458	T	-0.0102069	0.50238	T	-0.252438	0.49575	T	0.979535043239594	0.72881	D	0.939806	0.77272	D	0.49382678	0.66730	0.5580165	0.74432	0.49382678	0.66731	0.5580165	0.74433	-7.252	0.55854	T	.	.	0.154	0.34004	B	.	.	3.620842	0.51243	23.1	0.9972413705916906	0.82266	0.97130	0.72865	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999986217076	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	3.775000	0.55055	6.376000	0.55533	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	15.851	0.78709	949	0.11373	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	476.83	35	chrX	116446810	.	G	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=195;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.44;SOR=0.452	GT:AD:DP:GQ:PL	0/1:25,19:44:99:487,0,628	5	0	1	0
chrX	118346576	118346576	G	A	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184965:exon1:c.G73A:p.V25M,WDR44:NM_001184966:exon1:c.G73A:p.V25M,WDR44:NM_019045:exon1:c.G73A:p.V25M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0329487250461	0.0008	0.000264901	0.0007	0	0.0007	0	0	0.0010	0	0.0008	0.0006727	104	154602	rs187698818	0.0007	0.0007	0.0007	0.0006	0.0055	0.0006	0.0006	0.0037	0.0031	0.0001	0.0005	0.0051	3.491e-05	5.024e-05	0.0055	0.0006	0.0010	0.0004	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	6.553e-05	0.0015	0.0004	0.0061	0	0	0.0046	0.0008	0	0	0.078	0.38185	T	0.228	0.34359	T	0.212	0.32920	B	0.035	0.28532	B	0.598794	0.10979	N	0.807531	1	0.08975	N	1.355	0.33814	L	-0.89	0.74793	T	-0.27	0.11366	N	0.148	0.15046	-0.9574	0.39662	T	0.182	0.52965	T	10	0.0048140883	0.00102	T	0.032949	0.54634	D	0.055	0.15663	.	.	0.284112513307	0.28011	0.05988480309334891	0.05928	0.224643676936	0.24998	0.361828774214	0.19652	T	0.113065	0.42981	T	-0.474375	0.00799	T	-0.526988	0.19589	T	0.00422034054563488	0.00045	T	0.813919	0.47665	T	0.06921623	0.15145	0.114033476	0.27525	0.06921623	0.15145	0.114033476	0.27524	-5.265	0.41464	T	.	.	0.246	0.48050	B	.;.;.	.;.;.	1.471088	0.18947	14.01	0.97075750636822389	0.32260	0.09800	0.15473	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999969169477	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.787	0.17740	0.481000	0.21969	1.945000	0.29852	0.672000	0.70159	0.001000	0.13787	0.018000	0.20648	0.959000	0.51448	0.2082:0.0:0.4186:0.3732	3.363	0.06775	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	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	0.003446	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.000000	0.08333	1401.83	38	chrX	118346576	.	G	A	1401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=302;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.521;SOR=0.898	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1412,0,1401	5	0	1	0
chrX	119470141	119470141	G	A	exonic	SLC25A5	.	nonsynonymous SNV	SLC25A5:NM_001152:exon2:c.G592A:p.A198T	.	440	1071	11	0	0	11	0.00510915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.626	0.0422452456037	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774207033	5.866e-06	0.0003	8.394e-06	0	3.541e-05	2.11e-06	1.39e-06	4.2e-07	1.6e-07	0	3.541e-05	0	0	9.036e-05	0	2.503e-06	0	0	7.094e-05	0.0034	7.49e-05	5.609e-05	0.0003	3.044e-05	2.07e-05	6.123e-05	3.641e-05	0.0002	0	0.0003	0	0	0	0	0	0	0	0.13	0.26740	T	0.144	0.33109	T	0.498	0.37115	P	0.245	0.38823	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	-1.17	0.78199	T	-2.59	0.55821	D	0.719	0.72120	-0.2970	0.75068	T	0.352	0.71596	T	10	0.72078604	0.73648	D	0.042245	0.60361	D	0.626	0.85563	.	.	0.967689624617	0.96734	0.9664814949107903	0.96636	1.29258716038	0.82837	0.757040023804	0.75488	T	0.552921	0.84894	D	0.236262	0.77308	D	0.101598	0.77013	D	0.96561986207962	0.67322	D	0.833317	0.50212	T	0.57796586	0.71497	0.4841953	0.70141	0.57796586	0.71498	0.4841953	0.70141	-8.729	0.65936	D	.	.	0.251	0.48521	B	.	.	4.253037	0.64575	24.7	0.9975711473580986	0.84772	0.97638	0.76075	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999999999992	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	9.567000	0.97303	7.019000	0.57259	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.888000	0.42677	0.0:0.0:1.0:0.0	15.717	0.77439	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	40.7	92	chrX	119470141	.	G	A	40.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.468;DP=499;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.68;MQRankSum=-8.456;QD=0.56;ReadPosRankSum=-2.885;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	4	0	1	1
chrX	119605953	119605953	-	A	exonic	NKRF	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.092e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	74.64	.	chrX	119605953	.	G	GA	74.64	.	AC=2;AF=0.5;AN=4;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=24.88;SOR=1.179	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	1	0	4
chrX	120366598	120366598	C	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon2:c.C137T:p.T46M,ATP1B4:NM_012069:exon2:c.C137T:p.T46M	.	413	1089	12	8	0	28	0.0126927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0016	0.00344371	0.0031	0.0009	0.0012	0	0.0022	0.0033	0.0016	0.0078	0.0030595	473	154602	rs147823363	0.0030	0.0030	0.0028	0.0033	0.0117	0.0029	0.0029	0.0091	0.0081	0.0016	0.0012	0.0006	3.316e-05	0.0018	0.0117	0.0029	0.0031	0.0080	0.0022	0.0022	0.0022	0.0022	0.0071	0.0019	0.0018	0.0045	0.0037	0.0007	0	0.0024	0.0004	0.0003	0.0007	0	0.0031	0.0041	0.0071	0.828	0.02899	T	0.186	0.31427	T	0.0	0.07471	B	0.0	0.04355	B	0.007374	0.31436	N	0.360375	1	0.08975	N	0	0.06538	N	3.13	0.08014	T	0.28	0.04233	N	0.03	0.06854	-0.9619	0.38819	T	0.007	0.02598	T	10	0.0043936074	0.00089	T	.	.	.	0.032	0.07718	.	.	0.503124787307	0.49949	0.3925930921241168	0.39174	0.16216209601	0.18296	0.315780937672	0.12782	T	0.007552	0.06949	T	-0.892608	0.00001	T	-1.04996	0.00066	T	0.0054679533087499	0.00059	T	0.622938	0.23989	T	0.016141063	0.00179	0.044297237	0.05708	0.016141063	0.00179	0.044297237	0.05707	-4.574	0.31843	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	-0.293768	0.02646	0.335	0.78315186591514618	0.12248	0.01735	0.05481	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999631932077722	0.41205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	1.09	0.19517	0.412000	0.20852	0.585000	0.19752	-0.177000	0.10537	0.995000	0.38783	0.745000	0.26509	0.177000	0.21203	0.2003:0.2523:0.174:0.3734	0.324	0.00286	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.010707	0.013699	0.007435	0.019139	0.000000	0.011765	0.013393	0.005263	0.1667	1737.04	35	chrX	120366598	.	C	T	1737.04	.	AC=2;AF=0.167;AN=12;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.06;SOR=0.994	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	1	0	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.08333	334.83	33	chrX	120379482	.	A	T	334.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.382;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1294	5	0	1	0
chrX	120874943	120874969	TCCTCTGTGGCCTCCTCTGTGAGCTTC	-	exonic	CT47B1	.	nonframeshift deletion	CT47B1:NM_001145718:exon1:c.702_728del:p.K235_E243del	.	17	1471	27	7	0	41	0.0137446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0005	0.0043	0	0.0056	0.0076	0.0080	0.0024	0.0002689	7	26028	rs771317536	0.0051	0.0052	0.0052	0.0049	0.0188	0.0050	0.0049	0.0152	0.0138	0.0008	0.0040	0.0044	0	0.0069	0.0188	0.0055	0.0057	0.0017	0.0046	0.0046	0.0047	0.0043	0.0074	0.0042	0.0041	0.0068	0.0066	0.0006	0.0190	0.0027	0.0049	0	0.0051	0.0047	0.0074	0.0060	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	217.79	33	chrX	120874942	.	TTCCTCTGTGGCCTCCTCTGTGAGCTTC	T	217.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.825;DP=213;ExcessHet=0;FS=6.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=-0.216;SOR=1.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	5	0	1	0
chrX	131084670	131084670	C	G	exonic	ARHGAP36	.	nonsynonymous SNV	ARHGAP36:NM_001330651:exon5:c.C385G:p.R129G,ARHGAP36:NM_001282607:exon6:c.C757G:p.R253G,ARHGAP36:NM_144967:exon6:c.C793G:p.R265G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0293794279955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.78490	D	0.0	0.92824	D	0.922	0.51142	P	0.605	0.50945	P	0.000895	0.41231	D	0.109896	0.999699	0.48338	D	2.615	0.76484	M	2.06	0.46777	T	-6.8	0.92903	D	0.517	0.55886	-0.6683	0.61905	T	0.224	0.58754	T	10	0.7753822	0.77416	D	0.029379	0.51898	D	0.258	0.56959	0.698	0.83499	0.66452580712	0.66170	0.9453132115751715	0.94513	1.19150631811	0.80291	0.3948828578	0.24356	T	0.21724	0.57964	T	0.075264	0.61482	D	-0.129665	0.61000	T	0.890982270240784	0.54187	D	0.880312	0.62289	D	0.4401018	0.63409	0.3546556	0.61006	0.4401018	0.63410	0.3546556	0.61005	-8.484	0.64323	D	.	.	0.195	0.53495	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071162	0.26338	17.08	0.98070221553732895	0.38023	0.64025	0.32274	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.568346382690659	0.21471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	2.51	0.29435	2.135000	0.41735	4.152000	0.42155	-0.569000	0.04791	0.984000	0.35821	0.998000	0.33993	0.020000	0.11549	0.619:0.381:0.0:0.0	8.563	0.32684	512	0.75040	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	.	.	.	.	.	.	.	.	0.1667	602.04	42	chrX	131084670	.	C	G	602.04	.	AC=2;AF=0.167;AN=12;DP=198;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.69;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	1	0	0
chrX	132072994	132072994	A	G	exonic	STK26	.	nonsynonymous SNV	STK26:NM_001042452:exon9:c.A941G:p.Q314R,STK26:NM_001042453:exon10:c.A896G:p.Q299R,STK26:NM_016542:exon11:c.A1127G:p.Q376R	.	446	1074	2	0	0	2	0.000930233	.	.	.	2424462	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0935784611406	.	.	3.461e-05	0	0	0	0	6.308e-05	0	0	1.94e-05	3	154602	rs759399972	4.467e-05	4.462e-05	4.085e-05	5.243e-05	0.0029	3.419e-05	3.08e-05	0.0017	0.0013	3.794e-05	0	0.0002	0	0	0.0029	2.972e-05	0.0002	0	1.777e-05	1.739e-05	0	5.764e-05	3.75e-05	2.95e-06	1.11e-06	6.22e-06	2.33e-06	0	0	0	0	0	0	0	3.75e-05	0	0	0.089	0.32769	T	0.532	0.10429	T	0.004	0.20242	B	0.01	0.23121	B	0.002655	0.36173	N	0.182940	0.994268	0.23554	N	.	.	.	1.59	0.28836	T	-1.11	0.28703	N	0.191	0.29313	-1.0457	0.15621	T	0.052	0.21960	T	10	0.098068684	0.17706	T	0.093578	0.76098	D	0.066	0.19193	0.19	0.10039	0.308613300994	0.30479	0.42287368273514114	0.42204	0.691555572285	0.60602	0.393458127975	0.24156	T	0.087265	0.37904	T	-0.477547	0.00765	T	-0.708405	0.05378	T	0.0684665812500037	0.08434	T	0.654835	0.32279	T	0.48136508	0.65983	0.42760506	0.66500	0.48136508	0.65984	0.42760506	0.66500	-4.182	0.29746	T	.	.	0.070	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.292680	0.29327	18.09	0.99408641887263482	0.63169	0.86767	0.46119	D	AEFBI	.	.	.	.	.	.	.	.	.	0.720682693102743	0.22928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	5.76	0.90726	2.866000	0.48119	4.700000	0.44405	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.092	0.71871	276	0.89131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004135	0.006849	0.000000	0.015810	0.000000	0.011765	0.000000	0.000000	0.08333	602.83	33	chrX	132072994	.	A	G	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.341;DP=199;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.082;SOR=0.9	GT:AD:DP:GQ:PL	0/1:21,23:44:99:613,0,667	5	0	1	0
chrX	132669134	132669134	C	T	exonic	HS6ST2	.	nonsynonymous SNV	HS6ST2:NM_001077188:exon5:c.G1046A:p.R349Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0192522507933	0.0003	0.0010596	0.0014	0	0.0018	0	0	0.0014	0.0017	0.0044	0.0012031	186	154602	rs201239951	0.0009	0.0009	0.0008	0.0011	0.0039	0.0008	0.0008	0.0031	0.0029	0.0002	0.0015	0.0170	3.323e-05	4.94e-05	0.0039	0.0004	0.0017	0.0035	0.0008	0.0008	0.0007	0.0011	0.0031	0.0007	0.0006	0.0015	0.0011	9.776e-05	0	0.0015	0.0155	0	0	0	0.0004	0.0013	0.0031	0.007	0.59928	D	0.064	0.44905	T	.	.	.	.	.	.	0.410568	0.13002	U	0.423768	1	0.81001	D	.	.	.	-0.58	0.71425	T	-0.69	0.19720	N	0.14	0.13911	-0.9002	0.47973	T	0.226	0.59032	T	10	0.006667018	0.00151	T	0.019252	0.41561	T	0.093	0.26882	.	.	0.652731858869	0.64984	0.5304026432894727	0.52964	0.711249349536	0.61720	0.302379369736	0.10756	T	.	.	.	-0.575706	0.00205	T	-0.603416	0.12526	T	0.037962485685805	0.03325	T	0.59564	0.22108	T	.	.	.	.	.	.	.	.	-2.991	0.10084	T	.	.	0.103	0.18247	B	.;.;.	.;.;.	2.947622	0.39208	20.9	0.9993386130405435	0.99535	0.54775	0.29698	D	AEFBI	.	.	.	.	.	.	.	.	.	0.84818917095557	0.24993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	2.31	0.27816	1.021000	0.29642	0.502000	0.19004	0.599000	0.40250	1.000000	0.71638	0.915000	0.28207	0.996000	0.76049	0.0:0.7504:0.0:0.2496	5.732	0.17314	498	0.76166	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.003546	0.000000	0.000000	0.004739	0.000000	0.000000	0.004425	0.015789	0.08333	745.83	34	chrX	132669134	.	C	T	745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.161;DP=242;ExcessHet=0;FS=3.193;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-2.366;SOR=0.395	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	5	0	1	0
chrX	133026484	133026484	C	T	exonic	USP26	.	nonsynonymous SNV	USP26:NM_031907:exon1:c.G1737A:p.M579I	.	431	1076	9	6	0	21	0.00966406	.	.	.	729417	USP26-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.374	0.0223907102626	0.0038	0.0018543	0.0044	0.0006	0.0008	0	0.0078	0.0050	0.0064	0.0090	0.0044113	682	154602	rs138385391	0.0050	0.0050	0.0049	0.0054	0.0140	0.0049	0.0049	0.0112	0.0104	0.0004	0.0015	0.0017	0	0.0074	0.0140	0.0051	0.0041	0.0114	0.0034	0.0036	0.0033	0.0038	0.0099	0.0031	0.0030	0.0068	0.0058	0.0006	0.0015	0.0013	0.0019	0	0.0094	0.0141	0.0048	0.0041	0.0099	0.407	0.10245	T	0.598	0.07999	T	0.024	0.19075	B	0.085	0.29395	B	0.750155	0.06479	N	1.160920	1	0.08975	N	1	0.25136	L	-0.75	0.73311	T	-0.27	0.11366	N	0.045	0.01740	-0.9683	0.37551	T	0.152	0.48101	T	10	0.0056304634	0.00125	T	0.022391	0.45274	T	0.374	0.69273	0.803	0.92160	0.523702305895	0.52015	0.1713517148917736	0.17055	0.0730784716904	0.08188	0.385077238083	0.22974	T	0.001298	0.00775	T	-0.382146	0.03020	T	-0.312307	0.43411	T	0.00399468016474662	0.00042	T	0.316968	0.06317	T	0.073268145	0.16360	0.069739304	0.14731	0.073268145	0.16359	0.069739304	0.14730	-2.597	0.06481	T	.	.	0.283	0.51883	B	.;.	.;.	-0.466975	0.01975	0.172	0.53528743482868002	0.04957	0.03972	0.09383	N	AEFI	.	.	.	.	.	.	.	.	.	1.36546360856167E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	-0.933	0.09900	-0.964000	0.03943	-1.960000	0.04430	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3655:0.3176:0.0:0.3169	2.872	0.05275	603	0.67726	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	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	1	0	0.008276	0.006803	0.009276	0.011858	0.000000	0.011765	0.000000	0.010526	0.08333	812.83	34	chrX	133026484	.	C	T	812.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.039;DP=235;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.356;SOR=0.866	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	5	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	64.5	77	chrX	135580144	.	G	C	64.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.534;DP=278;ExcessHet=3.1439;FS=273.052;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=0.229;SOR=9.327	GT:AD:DP:GQ:PL	0/1:30,12:55:3:3,0,413	2	0	4	0
chrX	136227328	136227328	T	C	exonic	MAP7D3	.	nonsynonymous SNV	MAP7D3:NM_001173517:exon11:c.A1885G:p.K629E,MAP7D3:NM_001173516:exon12:c.A1936G:p.K646E,MAP7D3:NM_024597:exon12:c.A1990G:p.K664E	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00821589867153	.	.	1.148e-05	0	0	0	0	0	0	9.878e-05	6.5e-06	1	154602	rs770141603	7.29e-06	7.284e-06	8.167e-06	5.512e-06	0.0002	3.14e-06	2.27e-06	1.471e-05	7.08e-06	0	0	0	0	0	0.0002	3.565e-06	2.171e-05	5.545e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.635	0.07082	T	0.77	0.45299	P	0.284	0.44712	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	2.53	0.14038	T	-0.05	0.08495	N	0.12	0.11769	-1.0083	0.27448	T	0.022	0.09375	T	9	0.07664952	0.11999	T	0.008216	0.21776	T	0.054	0.15330	0.505	0.59924	0.282179105231	0.27821	0.014222077155084957	0.01379	0.457674047346	0.45397	0.316906273365	0.12952	T	0.003151	0.10158	T	-0.514943	0.00470	T	-0.827163	0.01313	T	0.15591488290815	0.17565	T	0.50065	0.15660	T	0.12773192	0.29883	0.11206472	0.27036	0.12773192	0.29883	0.11206472	0.27035	-3.445	0.15670	T	0.4150857338271214	0.50476	0.080	0.22282	B	.;.;.;.	.;.;.;.	1.394315	0.18074	13.53	0.83706233641453176	0.14874	0.11737	0.16829	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.991673760235792	0.32570	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0	-1.9	0.07248	0.392000	0.20527	0.485000	0.18844	-0.157000	0.11712	0.000000	0.06391	0.001000	0.17328	0.007000	0.07825	0.0:0.2401:0.492:0.2679	5.430	0.15744	778	0.48011	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1214.83	33	chrX	136227328	.	T	C	1214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.779;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.662;SOR=0.645	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1225,0,813	5	0	1	0
chrX	136659336	136659336	C	T	exonic	CD40LG	.	nonsynonymous SNV	CD40LG:NM_000074:exon5:c.C707T:p.S236L	Immunodeficiency, X-linked, with hyper-IgM, X-linked recessive	.	.	.	.	.	.	.	.	.	.	860790	not_provided|Hyper-IgM_syndrome_type_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.71937934755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252281345	1.185e-05	1.184e-05	1.089e-05	1.38e-05	3.79e-05	6.61e-06	5.1e-06	6.01e-06	4.38e-06	3.79e-05	0	0	0	0	0	1.189e-05	2.171e-05	1.853e-05	3.57e-05	3.482e-05	5.139e-05	0	7.515e-05	1.134e-05	6.62e-06	2.552e-05	1.48e-05	0	0	0	0	0	0	0	7.515e-05	0	0	0.606	0.14497	T	0.159	0.37037	T	0.935	0.90584	P	0.31	0.97372	B	0.000752	0.42006	D	0.183442	0.927784	0.27136	N	2.175	0.60977	M	-3.49	0.94621	D	-2.22	0.52776	N	0.173	0.22742	0.338	0.88159	D	0.832	0.94369	D	10	0.46088967	0.59277	T	0.719379	0.97728	D	0.386	0.70276	.	.	0.956168750747	0.95570	0.5108619172039688	0.51008	0.882972301697	0.69839	0.460056483746	0.33318	T	0.849096	0.96549	D	0.125211	0.66892	D	-0.0579189	0.66477	T	0.785830005308975	0.45418	D	0.881612	0.60121	D	0.7034459	0.78246	0.62322295	0.78044	0.7034459	0.78247	0.62322295	0.78045	-5.746	0.44101	T	0.18158272986224608	0.23421	0.151	0.36375	B	.;.	.;.	3.061357	0.41109	21.3	0.97277777239656305	0.33167	0.55904	0.29981	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999905404119	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.47	5.47	0.80345	2.033000	0.40757	7.604000	0.61663	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.996000	0.76049	0.0:0.8315:0.0:0.1685	9.189	0.36350	191	0.92559	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain;Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor 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	.	.	.	.	.	.	.	.	0.08333	1010.83	33	chrX	136659336	.	C	T	1010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=259;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.547;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	0
chrX	137566825	137566825	-	CGC	exonic	ZIC3	.	nonframeshift insertion	ZIC3:NM_001330661:exon1:c.134_135insCGC:p.A55_F56insA,ZIC3:NM_003413:exon1:c.134_135insCGC:p.A55_F56insA	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	.	.	.	.	.	.	.	.	.	.	257760	not_specified|not_provided|Heterotaxy,_visceral,_1,_X-linked|ZIC3-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0	0	0	0.0011	0	0.0016	0.0001537	4	26028	rs756241691	0.0043	0.0042	0.0049	0.0030	0.0051	0.0042	0.0041	0.0049	0.0049	0.0009	0.0008	0	0.0003	0.0011	0.0020	0.0051	0.0031	0.0018	0.0025	0.0025	0.0028	0.0017	0.0042	0.0022	0.0021	0.0037	0.0036	0.0010	0	0.0006	0	0	0.0012	0.0046	0.0042	0.0026	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1579.01	36	chrX	137566825	.	A	ACGC	1579.01	.	AC=2;AF=0.167;AN=12;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.07;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	5	1	0	0
chrX	140783789	140783806	GTCTTCCAGAAAATCCAT	-	exonic	CDR1	.	nonframeshift deletion	CDR1:NM_004065:exon1:c.561_578del:p.W191_F196del	.	11	1501	9	1	0	11	0.00365085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0005	0.0006	0.0002	0	0.0006	0.0016	0.0024	0.0006727	104	154602	rs747072025	0.0007	0.0007	0.0006	0.0008	0.0028	0.0007	0.0006	0.0024	0.0023	0.0003	0.0003	0.0001	6.624e-05	2.471e-05	0.0005	0.0007	0.0007	0.0028	0.0005	0.0006	0.0006	0.0005	0.0019	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0002	0	0.0003	0	0	0.0008	0.0007	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3188.01	36	chrX	140783788	.	CGTCTTCCAGAAAATCCAT	C	3188.01	.	AC=2;AF=0.167;AN=12;DP=270;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=27.85;SOR=1.103	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	5	1	0	0
chrX	141002744	141002744	A	T	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A51T:p.E17D	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.15425232554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434924062	1.002e-05	7.194e-05	1.089e-05	8.256e-06	1.847e-05	5.38e-06	3.93e-06	6.01e-06	4.38e-06	0	0	0	0	0	0	1.188e-05	0	1.847e-05	1.752e-05	0.0006	2.573e-05	0	1.868e-05	2.91e-06	1.09e-06	.	.	0	0	0	0	0	0	0.0046	1.868e-05	0	0	0.824	0.02928	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	0.58	0.02598	N	0.092	0.07125	-0.9449	0.41830	T	0.005	0.01833	T	7	0.15110585	0.28568	T	0.94116	0.99584	D	0.047	0.12962	0.352	0.35084	0.141422826196	0.13715	0.0015843850570725375	0.00146	.	.	.	.	.	0.003004	0.02402	T	-0.550116	0.00291	T	-1.02798	0.00093	T	0.0702587366104126	0.08688	T	0.327067	0.06771	T	0.20686755	0.42875	0.25268742	0.50902	0.20686755	0.42874	0.25268742	0.50901	-4.535	0.31344	T	.	.	0.110	0.21353	B	.	.	-0.298320	0.02624	0.329	0.081156221620374128	0.00058	0.00121	0.00759	N	AEFGI	.	.	.	.	.	.	.	.	.	3.20000514859358E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.102000	0.00334	-2.234000	0.04020	-4.039000	0.00045	0.926000	0.32145	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	57.83	240	chrX	141002744	.	A	T	57.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=490;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.66;MQRankSum=-8.436;QD=0.24;ReadPosRankSum=-0.613;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800:.	5	0	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	17811.4	204	chrX	141906385	.	C	*	17811.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=943;ExcessHet=0;FS=0.814;MLEAC=2;MLEAF=0.167;MQ=56.84;MQRankSum=-0.393;QD=21.54;ReadPosRankSum=0.061;SOR=0.599	GT:AD:DP:GQ:PL	0/0:101,0:195:99:2274,2574,5288	5	1	0	0
chrX	141906803	141906803	-	AGAGT	exonic	MAGEC1	.	frameshift insertion	MAGEC1:NM_005462:exon4:c.1399_1400insAGAGT:p.H467Qfs*18	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491074505	4.771e-05	4.749e-05	2.886e-05	8.558e-05	0.0007	3.704e-05	3.354e-05	0.0002	0.0001	3.832e-05	2.889e-05	0.0004	0	0	0.0007	2.512e-05	0.0001	0.0002	2.742e-05	2.623e-05	3.867e-05	0	3.812e-05	7.29e-06	3.02e-06	6.32e-06	2.37e-06	0	0	0	0.0004	0	0	0	3.812e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1175.79	186	chrX	141906803	.	C	CAGAGT	1175.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.448;DP=485;ExcessHet=0;FS=1.405;MLEAC=1;MLEAF=0.083;MQ=57.98;MQRankSum=-7.096;QD=6.32;ReadPosRankSum=5.62;SOR=0.839	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chrX	141906805	141906805	-	TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	exonic	MAGEC1	.	stopgain	MAGEC1:NM_005462:exon4:c.1401_1402insTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG:p.S468Ffs*2	.	1	164	40	20	1	81	0.196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.952e-05	0.0001	4.778e-05	0.0001	0.0007	5.693e-05	5.197e-05	0.0002	0.0001	7.643e-05	2.85e-05	0.0007	0	0	0.0007	4.41e-05	0.0002	0.0002	2.958e-05	2.716e-05	4.04e-05	0	4.013e-05	7.86e-06	4.18e-06	6.65e-06	2.49e-06	0	0	0	0.0004	0	0	0	4.013e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8559.73	197	chrX	141906805	.	C	CTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG	8559.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=524;ExcessHet=0;FS=8.565;MLEAC=1;MLEAF=0.083;MQ=58.13;MQRankSum=0.077;QD=25.32;ReadPosRankSum=1.07;SOR=0.367	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chrX	141907686	141907694	AGAGTCCTC	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.2282_2290del:p.Q764_P766del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.145e-05	0	0	0	0	2.091e-05	0	0	3.84e-05	1	26028	rs777970450	2.551e-05	2.55e-05	2.859e-05	1.928e-05	0.0024	1.769e-05	1.523e-05	0.0013	0.0010	0	0	0	0	0	0.0024	1.069e-05	0.0001	5.542e-05	1.858e-05	1.769e-05	2.617e-05	0	1.936e-05	3.09e-06	1.16e-06	.	.	0	0	0	0	0	0	0	1.936e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2979.79	164	chrX	141907685	.	GAGAGTCCTC	G	2979.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.885;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=-1.038;QD=18.17;ReadPosRankSum=1.12;SOR=0.657	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	1	0
chrX	148962804	148962804	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon10:c.G1703A:p.R568H,AFF2:NM_001169122:exon12:c.G2681A:p.R894H,AFF2:NM_001169124:exon12:c.G2675A:p.R892H,AFF2:NM_001169125:exon12:c.G2663A:p.R888H,AFF2:NM_001169123:exon13:c.G2750A:p.R917H,AFF2:NM_002025:exon13:c.G2780A:p.R927H	Mental retardation, X-linked, FRAXE type, X-linked recessive	7	1488	19	8	0	35	0.011624	.	.	.	191365	not_specified|FRAXE|not_provided|AFF2-related_disorder	MedGen:CN169374|MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	0.788945586857	0.0006	0.000794702	0.0015	0.0001	0.0007	0	0	0.0015	0.0080	0.0051	0.0013777	213	154602	rs140927355	0.0010	0.0010	0.0009	0.0013	0.0054	0.0010	0.0010	0.0049	0.0047	0.0004	0.0006	0.0171	3.313e-05	0	0.0022	0.0004	0.0018	0.0054	0.0008	0.0008	0.0008	0.0008	0.0034	0.0007	0.0006	0.0018	0.0013	3.244e-05	0	0.0003	0.0170	0	0	0	0.0006	0.0013	0.0034	0.003	0.72154	D	0.228	0.35840	T	1.0	0.90584	D	0.999	0.92359	D	0.001805	0.37945	N	0.251509	0.999985	0.54805	D	2.14	0.59869	M	-0.1	0.64264	T	0.13	0.05503	N	0.059	0.31925	-0.1835	0.78092	T	0.434	0.77452	T	10	0.0070457757	0.00160	T	0.788946	0.98342	D	0.290	0.60924	.	.	0.931681299323	0.93097	0.3173714879489815	0.31650	0.646509102496	0.58061	0.417903870344	0.27549	T	0.406954	0.76270	T	-0.0729265	0.40859	T	0.123148	0.78444	D	0.0418868720804479	0.04033	T	0.868913	0.57225	D	0.18802847	0.40283	0.18903407	0.42227	0.15770656	0.35520	0.20170383	0.44162	-3.437	0.18466	T	.	.	0.115	0.32565	B	.;.;.;.	.;.;.;.	3.581396	0.50496	23.0	0.99937657744518793	0.99661	0.93683	0.58894	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999828898	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.87	5.87	0.94266	3.614000	0.53901	4.259000	0.42796	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.241	0.89904	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.005533	0.006803	0.005566	0.003953	0.000000	0.000000	0.004444	0.010526	0.08333	983.83	35	chrX	148962804	.	G	A	983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.624;DP=268;ExcessHet=0;FS=4.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.75;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	5	0	1	0
chrX	149599565	149599565	C	T	exonic	TMEM185A	.	nonsynonymous SNV	TMEM185A:NM_001174092:exon5:c.G620A:p.G207E,TMEM185A:NM_032508:exon6:c.G797A:p.G266E	.	420	1084	18	0	0	18	0.00823422	.	.	.	2424077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.527	.	.	.	0.0090	0	0	0	.	0.0107	0	0	.	.	.	rs782032084	0.0057	0.0096	0.0082	0.0002	0.0063	0.0055	0.0055	0.0061	0.0060	0.0011	0.0032	0.0042	3.409e-05	0.0113	0.0048	0.0063	0.0054	0.0004	0.0039	0.0076	0.0052	0.0008	0.0056	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0036	0.0031	0	0.0093	0.0145	0.0056	0.0047	0.0004	.	.	.	0.003	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.73	0.26445	T	.	.	.	0.889	0.90476	-0.6719	0.61742	T	0.184	0.53331	T	10	0.010289013	0.00230	T	.	.	.	.	.	.	.	.	.	0.8568128047925844	0.85644	.	.	0.885326087475	0.94665	D	0.372878	0.73698	T	-0.144225	0.29219	T	0.0369747	0.72731	D	0.0948123463911389	0.11776	T	0.983002	0.94220	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.92581	P	.;.;.	.;.;.	4.714184	0.75770	26.4	0.99763465761409065	0.85254	0.97164	0.73066	D	AEFI	.	.	.	.	.	.	.	.	.	0.999976458047837	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37	4.37	0.51830	7.757000	0.84067	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.143	0.72302	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.005602	0.000000	0.000000	0.032258	0.000000	0.000000	0.000000	0.000000	0.08333	132.83	173	chrX	149599565	.	C	T	132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.993;DP=353;ExcessHet=0;FS=25.692;MLEAC=1;MLEAF=0.083;MQ=47.79;MQRankSum=-4.182;QD=0.77;ReadPosRankSum=-2.527;SOR=3.312	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1214	5	0	1	0
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L,MAGEA11:NM_005366:exon5:c.A280C:p.I94L	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	Uncertain significance	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	0.010323	0.006803	0.009276	0.011858	0.000000	0.023529	0.008850	0.010526	0.1667	2141.04	73	chrX	149715766	.	A	C	2141.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.45;SOR=1.044	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1368	5	1	0	0
chrX	149932732	149932732	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G289A:p.E97K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0455746128969	0.0012	0.000529801	0.0011	0	0.0014	0	0	0.0017	0.0034	0	0.000815	126	154602	rs149390769	0.0023	0.0023	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0012	0.0011	0.0001	6.632e-05	0.0001	0	0.0027	0.0025	0	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0	0.0008	0	0.0003	0	0	0.0021	0.0021	0	0.072	0.34982	T	0.129	0.34837	T	0.002	0.09854	B	0.003	0.08700	B	0.174483	0.17277	N	0.600487	1	0.08975	N	1.15	0.29295	L	-3.06	0.92457	D	-2.27	0.50666	N	0.088	0.08506	-0.3069	0.74792	T	0.590	0.85303	D	10	0.0106579065	0.00236	T	0.045575	0.62047	D	0.148	0.39182	.	.	0.433011177183	0.42918	0.40281552380071295	0.40197	0.702820325813	0.61233	.	.	.	0.040084	0.25409	T	-0.471294	0.00834	T	-0.456233	0.27012	T	0.0154572592010672	0.00347	T	0.738626	0.35686	T	0.15915641	0.35767	0.13371705	0.32058	0.15915641	0.35767	0.13371705	0.32057	-4.417	0.29786	T	.	.	0.096	0.15564	B	.;.;.;.;.	.;.;.;.;.	1.819501	0.23120	15.89	0.94357346579017376	0.24712	0.09368	0.15138	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.319439230975613	0.19369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.22	1.31	0.20837	3.010000	0.49246	.	.	0.454000	0.21428	0.184000	0.24113	0.000000	0.08366	0.026000	0.12556	0.1829:0.7091:0.0:0.108	6.215	0.19860	484	0.77165	ASCH domain;ASCH domain;ASCH domain;ASCH domain;ASCH 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	0.000757	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1940.83	182	chrX	149932732	.	C	T	1940.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=357;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.083;MQ=39.75;MQRankSum=-4.352;QD=10.66;ReadPosRankSum=-0.519;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1322	5	0	1	0
chrX	152766771	152766771	T	C	exonic	MAGEA6	.	nonsynonymous SNV	MAGEA6:NM_005363:exon3:c.A880G:p.S294G,MAGEA6:NM_175868:exon3:c.A880G:p.S294G	.	437	1054	22	9	0	40	0.018622	.	.	.	3500825	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.000939796218196	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs149795670	0.0002	0.0002	0.0001	0.0002	0.0094	0.0001	0.0001	0.0071	0.0063	0	5.684e-05	0.0004	0	0	0.0094	6.656e-05	0.0006	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.876e-05	5.385e-05	0.0001	6.549e-05	3.252e-05	0	0	0.0004	0	0	0	0.0002	0	0.0008	0.154	0.24277	T	0.09	0.40267	T	.	.	.	.	.	.	0.084434	0.02389	N	1.866700	1	0.08975	N	.	.	.	4.68	0.01715	T	-1.92	0.44657	N	0.091	0.06990	-0.9114	0.46682	T	0.008	0.02884	T	10	0.099959314	0.18175	T	9.4E-4	0.00934	T	.	.	0.363	0.36874	0.530606565545	0.52708	0.2508074439492044	0.24994	.	.	0.471705913544	0.34914	T	0.010616	0.09570	T	-0.425724	0.01574	T	-0.8493	0.00968	T	0.0395750029595417	0.03613	T	0.239776	0.03423	T	0.09530217	0.22426	0.11327622	0.27337	0.09530217	0.22426	0.11327622	0.27336	-5.449	0.41388	T	.	.	0.077	0.06803	B	.;.	.;.	0.302974	0.06786	3.305	0.83511777602203896	0.14766	0.02893	0.07682	N	AEFDCI	.	.	.	.	.	.	.	.	.	1.09901603177333E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.42	-0.0211	0.13278	0.178000	0.16634	.	.	0.233000	0.18164	0.002000	0.15269	0.000000	0.08366	0.095000	0.18041	0.0:0.0:0.3894:0.6106	3.881	0.08584	709	0.56835	MAGE homology domain;MAGE homology domain	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.08333	2277.83	34	chrX	152766771	.	T	C	2277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=392;ExcessHet=0;FS=3.968;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=1.29;QD=10.95;ReadPosRankSum=-0.259;SOR=0.996	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1407	5	0	1	0
chrX	153319501	153319501	G	A	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.C1174T:p.R392C	.	1038	476	5	3	0	11	0.0114226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00238411	.	.	.	.	.	.	.	.	0.0036883	96	26028	rs188949216	0.0054	0.0026	0.0053	0.0056	0.0381	0.0052	0.0050	0.0281	0.0247	0.0021	0.0046	0.0046	0.0073	0.0012	0.0381	0.0058	0.0055	0.0027	0.0035	0.0036	0.0035	0.0035	0.0051	0.0032	0.0031	0.0042	0.0040	0.0011	0	0.0046	0.0030	0.0051	0.0003	0.0605	0.0047	0.0091	0.0025	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	.	.	.	.	.	.	.	0.0090866685	0.00205	T	.	.	.	.	.	.	.	.	.	0.3574711015530339	0.35661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.726827	0.34112	T	0.15194072	0.34515	0.1523045	0.35838	0.15194072	0.34514	0.1523045	0.35837	-6.106	0.47158	T	.	.	0.158	0.34840	B	.	.	1.834308	0.23302	15.97	0.53807014310453671	0.05012	0.02597	0.07162	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0896954497736036	0.16091	.	.	.	.	.	.	.	.	.	.	.	.	0.0475984	0.06724	2.72	-0.585	0.11112	-0.552000	0.06110	.	.	-0.413000	0.05255	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:0.435:0.565	9.335	0.37209	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1669.04	41	chrX	153319501	.	G	A	1669.04	.	AC=2;AF=0.167;AN=12;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.77;SOR=1.426	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	5	1	0	0
chrX	153320479	153320479	C	T	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.G196A:p.A66T	.	3	222	0	1	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428147942	4.345e-05	5.027e-05	6.571e-05	0	0.0019	2.066e-05	1.548e-05	0.0006	0.0004	0.0002	0	0	0	0	0.0011	8.536e-06	7.943e-05	0.0019	3.587e-05	6.965e-05	5.142e-05	0	0.0004	1.138e-05	6.65e-06	1.084e-05	4.05e-06	6.548e-05	0	0	0	0	0	0	1.887e-05	0	0.0004	.	.	.	0.448	0.13030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.050794303	0.04864	T	.	.	.	.	.	.	.	.	.	0.17014904913898948	0.16934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312569	0.06116	T	0.035421513	0.04166	0.119637415	0.28876	0.035421513	0.04165	0.119637415	0.28875	-6.813	0.52656	T	.	.	0.121	0.25133	B	.	.	-0.163296	0.03284	0.563	0.56930619224452961	0.05658	0.00890	0.03501	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.604266865674749	0.21752	.	.	.	.	.	.	.	.	.	.	.	.	0.0590987	0.14171	2.66	-1.8	0.07480	-0.504000	0.06456	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3156:0.4472:0.0:0.2372	3.731	0.08019	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1250.83	41	chrX	153320479	.	C	T	1250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.654;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.88;MQRankSum=-0.954;QD=15.25;ReadPosRankSum=1.13;SOR=0.693	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1261,0,1173	5	0	1	0
chrX	153320578	153320578	C	A	exonic	PNMA6F	.	stopgain	PNMA6F:NM_001354980:exon2:c.G97T:p.E33X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000794702	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs782324082	0.0024	0.0012	0.0022	0.0028	0.0037	0.0022	0.0021	0.0019	0.0018	0.0002	0.0012	0.0081	0	0.0061	0.0011	0.0021	0.0017	0.0037	0.0018	0.0018	0.0016	0.0021	0.0038	0.0016	0.0015	0.0021	0.0017	0.0003	0	0.0002	0.0094	0	0.0057	0	0.0022	0	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.162322	0.94700	34	0.76904644374033926	0.11656	0.03818	0.09157	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.968399315750044	0.29049	.	.	.	.	.	.	.	.	.	.	.	.	0.102731	0.22603	2.63	2.63	0.30420	0.299000	0.18892	.	.	0.329000	0.19528	0.000000	0.06391	0.000000	0.08366	0.230000	0.22734	0.0:1.0:0.0:0.0	7.955	0.29199	162	0.93704	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1053.04	41	chrX	153320578	.	C	A	1053.04	.	AC=2;AF=0.167;AN=12;DP=307;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=46.77;QD=31.91;SOR=0.752	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	5	1	0	0
chrX	153454965	153454965	C	T	exonic	HAUS7	.	nonsynonymous SNV	HAUS7:NM_001385481:exon9:c.G1019A:p.R340H,HAUS7:NM_001385483:exon10:c.G1019A:p.R340H	.	436	1061	18	7	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0042	0.00662252	0.0069	0.0015	0.0045	0.0002	0.0022	0.0071	0.0221	0.0180	0.0068046	1052	154602	rs151168698	0.0064	0.0058	0.0059	0.0072	0.0230	0.0062	0.0062	0.0188	0.0172	0.0010	0.0042	0.0127	0.0004	0.0017	0.0230	0.0058	0.0073	0.0179	0.0057	0.0058	0.0060	0.0051	0.0129	0.0054	0.0052	0.0095	0.0084	0.0019	0.0706	0.0094	0.0143	0.0003	0.0011	0.0367	0.0062	0.0117	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4287.0	36	chrX	153454965	.	C	T	4287.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.75;DP=429;ExcessHet=0;FS=4.051;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-1.152;SOR=0.506	GT:AD:DP:GQ:PL	0/1:117,81:198:99:1917,0,2825	4	1	1	0
chrX	153866778	153866778	C	T	exonic	L1CAM	.	nonsynonymous SNV	L1CAM:NM_001143963:exon17:c.G2287A:p.V763I,L1CAM:NM_000425:exon18:c.G2302A:p.V768I,L1CAM:NM_024003:exon18:c.G2302A:p.V768I,L1CAM:NM_001278116:exon19:c.G2302A:p.V768I	CRASH syndrome, X-linked recessive;Corpus callosum, partial agenesis of, X-linked recessive;Hydrocephalus due to aqueductal stenosis, X-linked recessive;Hydrocephalus with Hirschsprung disease, X-linked recessive;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive;MASA syndrome, X-linked recessive	0	1501	15	6	0	27	0.00891383	.	.	.	98831	Spastic_paraplegia|not_specified|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.0016	0.00264901	0.0022	0.0002	0.0004	0	0.0004	0.0025	0.0032	0.0063	0.0022639	350	154602	rs36021462	0.0033	0.0033	0.0032	0.0036	0.0059	0.0032	0.0032	0.0054	0.0052	0.0003	0.0005	0	0	0.0008	0.0039	0.0037	0.0025	0.0059	0.0019	0.0019	0.0019	0.0018	0.0060	0.0017	0.0016	0.0038	0.0031	0.0006	0.0117	0.0004	0	0	0.0003	0	0.0030	0.0020	0.0060	0.004	0.65419	D	0.03	0.55341	D	0.265	0.40310	B	0.539	0.48797	P	0.001303	0.39449	N	0.107097	1	0.08975	N	1.645	0.42016	L	0.26	0.59314	T	-0.78	0.21644	N	0.088	0.10056	-0.8554	0.51592	T	0.229	0.59497	T	10	0.004782349	0.00101	T	.	.	.	0.081	0.23632	.	.	0.477087225981	0.47339	0.7691739690101598	0.76866	0.743790545488	0.63406	0.429857313633	0.29189	T	0.374624	0.73839	T	-0.570758	0.00219	T	-0.589741	0.13689	T	0.0324202180366073	0.02375	T	0.911109	0.68490	D	0.29763645	0.52692	0.2372083	0.49012	0.26925862	0.49998	0.23485817	0.48713	-6.299	0.48714	T	0.2835390748191692	0.37921	0.153	0.34160	B	.;.;.;.	.;.;.;.	2.328804	0.29829	18.25	0.99293621080318295	0.58362	0.07918	0.13905	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.708893416899347	0.22794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	4.4	0.52402	0.348000	0.19784	.	.	0.594000	0.32500	0.000000	0.06391	1.000000	0.68203	0.807000	0.38039	0.1577:0.8423:0.0:0.0	13.443	0.60573	155	0.93937	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004129	0.020408	0.000000	0.003953	0.000000	0.011765	0.000000	0.005263	0.08333	879.83	35	chrX	153866778	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.086;DP=272;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.087;SOR=0.848	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1375	5	0	1	0
chrX	153905742	153905742	G	C	exonic	AVPR2	.	nonsynonymous SNV	AVPR2:NM_000054:exon3:c.G236C:p.G79A,AVPR2:NM_001146151:exon3:c.G236C:p.G79A	Diabetes insipidus, nephrogenic, X-linked recessive;Nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive	1	1520	0	1	0	2	0.000657462	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0841369704004	.	0.000264901	4.711e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs782026554	5.11e-05	5.099e-05	4.089e-05	7.178e-05	0.0007	4.035e-05	3.627e-05	0.0005	0.0004	0	0	0	3.311e-05	0.0004	0	0	8.682e-05	0.0007	2.641e-05	4.346e-05	2.569e-05	2.797e-05	0.0007	7.02e-06	2.95e-06	0.0001	5.198e-05	0	0	0	0	0	0.0002	0	0	0	0.0007	0.143	0.25355	T	0.569	0.08839	T	0.044	0.21686	B	0.039	0.23607	B	0.627882	0.10715	N	0.838794	0.991247	0.24061	N	0.55	0.14455	N	-0.59	0.71543	T	1.76	0.00711	N	0.097	0.11626	-0.9899	0.32626	T	0.146	0.47056	T	10	0.038154215	0.02215	T	0.084137	0.74264	D	0.067	0.19503	0.488	0.57257	0.994642312817	0.99458	0.7270828434861616	0.72652	0.647229036831	0.58108	0.58970862627	0.51453	T	0.267889	0.63996	T	-0.486069	0.00683	T	-0.574071	0.15078	T	0.0130755372147554	0.00229	T	0.917708	0.83911	D	0.13175407	0.30701	0.11888255	0.28695	0.13175407	0.30701	0.11888255	0.28694	-3.05	0.10730	T	0.07101873564073517	0.02791	0.083	0.11366	B	.;.;.;.;.	.;.;.;.;.	1.595619	0.20407	14.73	0.7466041224132931	0.10779	0.27386	0.23263	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999995605733143	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.03	2.02	0.25641	0.318000	0.19252	.	.	0.591000	0.32079	0.000000	0.06391	1.000000	0.68203	0.985000	0.61073	0.0:0.1589:0.3597:0.4814	6.410	0.20889	180	0.92993	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	0.001376	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.005263	0.08333	881.83	50	chrX	153905742	.	G	C	881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.28;DP=291;ExcessHet=0;FS=4.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.306;SOR=0.349	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	5	0	1	0
chrX	154354678	154354678	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001456:exon31:c.C5227T:p.P1743S,FLNA:NM_001110556:exon32:c.C5251T:p.P1751S	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	0	1495	17	10	0	37	0.0122233	.	.	.	210478	not_specified|Connective_tissue_disorder|not_provided|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Frontometaphyseal_dysplasia|Melnick-Needles_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0688554207083	0.0006	0.000264901	0.0010	0	0.0003	0	0	0.0016	0	0.0008	0.0008215	127	154602	rs56102764	0.0008	0.0008	0.0007	0.0009	0.0111	0.0007	0.0007	0.0086	0.0077	0.0001	0.0001	0.0049	0	0	0.0111	0.0007	0.0014	0.0009	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0006	0.0008	0.0008	9.589e-05	0	0.0005	0.0053	0	0	0.0092	0.0011	0.0013	0	0.402	0.10412	T	0.508	0.10930	T	0.0	0.02946	B	0.001	0.06944	B	0.228215	0.15980	N	0.540328	1	0.18198	N	0	0.06538	N	-1.95	0.85173	D	0.02	0.06739	N	0.088	0.09631	-0.8851	0.49349	T	0.298	0.66970	T	10	0.0062868297	0.00142	T	0.068855	0.70567	D	0.062	0.17934	.	.	0.671905356834	0.66913	0.3444627069783037	0.34360	0.521825689874	0.49937	0.378045916557	0.21979	T	0.299845	0.67236	T	-0.477137	0.00769	T	-0.508592	0.21461	T	0.00247827947654632	0.00026	T	0.728927	0.35940	T	0.033331018	0.03532	0.07627959	0.16878	0.03553647	0.04202	0.089947626	0.21065	-2.951	0.10159	T	.	.	0.055	0.00793	B	.;.;.;.;.	.;.;.;.;.	1.144072	0.15318	11.76	0.79263957656027895	0.12663	0.04485	0.10101	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999919255220996	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.67	0.817	0.17914	0.541000	0.22915	0.735000	0.21116	0.650000	0.52971	0.329000	0.25581	0.534000	0.25378	0.682000	0.33600	0.3881:0.1682:0.4438:0.0	4.089	0.09437	77	0.96778	.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.009066	0.006993	0.005576	0.012048	0.000000	0.023529	0.009050	0.010638	0.08333	862.83	36	chrX	154354678	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.71;SOR=0.757	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1450	5	0	1	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1667	2745.04	33	chrX	154532990	.	C	T	2745.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.19;SOR=0.836	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	5	1	0	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.08333	1137.83	35	chrX	154534419	.	G	A	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.182;DP=266;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.23;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	5	0	1	0
chrX	154556314	154556314	G	A	exonic	IKBKG	.	nonsynonymous SNV	IKBKG:NM_001099856:exon3:c.G541A:p.D181N,IKBKG:NM_001099857:exon3:c.G337A:p.D113N,IKBKG:NM_001145255:exon3:c.G337A:p.D113N,IKBKG:NM_001321396:exon3:c.G337A:p.D113N,IKBKG:NM_001321397:exon3:c.G337A:p.D113N,IKBKG:NM_001377312:exon3:c.G337A:p.D113N,IKBKG:NM_001377313:exon3:c.G337A:p.D113N,IKBKG:NM_001377314:exon3:c.G337A:p.D113N,IKBKG:NM_001377315:exon3:c.G337A:p.D113N,IKBKG:NM_003639:exon3:c.G337A:p.D113N	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2	284	1211	26	1	0	28	0.0114286	.	.	.	79126	not_provided|Ectodermal_dysplasia_and_immunodeficiency_1|Immunodeficiency_33	MedGen:C3661900|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813|MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.189	0.224673559886	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs179363896	0.0086	0.0072	0.0130	0.0002	0.0098	0.0084	0.0083	0.0094	0.0093	0.0009	0.0027	0.0057	0	0.0175	0.0068	0.0098	0.0102	0.0065	0.0071	0.0069	0.0086	0.0003	0.0110	0.0067	0.0065	0.0102	0.0099	0.0018	0	0.0029	0.0069	0	0.0118	0.0057	0.0110	0.0070	0.0053	0.051	0.39334	T	0.1	0.66756	T	0.959	0.55135	D	0.501	0.47677	P	0.348836	0.13848	N	0.711988	0.99991	0.19781	N	1.245	0.31408	L	-1.65	0.95145	D	-1.33	0.36385	N	0.268	0.67304	0.204	0.85974	D	0.789	0.92861	D	10	0.006111324	0.00137	T	0.224674	0.87961	D	0.189	0.46613	0.188	0.09776	0.887711601573	0.88661	0.2985456713466058	0.29767	.	.	0.304108560085	0.11016	T	0.029732	0.70431	T	-0.467963	0.00875	T	-0.430693	0.29857	T	0.00792731663657177	0.00093	T	0.759324	0.40277	T	0.062621504	0.13099	0.12752393	0.30696	0.05325337	0.10051	0.15068215	0.35525	-5.747	0.44110	T	0.16878907404782587	0.21126	0.106	0.47848	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.886100	0.23959	16.22	0.99598339821547865	0.74042	0.28121	0.23466	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998316003727758	0.36741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4	4.4	0.52402	1.686000	0.37287	4.926000	0.46086	-0.749000	0.03603	0.071000	0.22100	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	11.865	0.51766	80	0.96670	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.08333	61.23	9	chrX	154556314	.	G	A	61.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=39;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.39;SOR=0.368	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,402	5	0	1	0
chrY	9488649	9488649	C	G	exonic	TSPY10;TSPY3;TSPY4	.	nonsynonymous SNV	TSPY4:NM_001164471:exon3:c.C602G:p.P201R,TSPY3:NM_001077697:exon4:c.C584G:p.P195R,TSPY10:NM_001282469:exon4:c.C584G:p.P195R,TSPY10:NM_001320962:exon4:c.C584G:p.P195R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38999056844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.109e-05	3.165e-05	.	2.109e-05	5.883e-05	3.5e-06	1.31e-06	.	.	0	0	0	0	0	0	1.915e-05	0	5.883e-05	0	4.362e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	36.83	.	chrY	9488649	.	C	G	36.83	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=21.27;MQRankSum=0.431;QD=9.21;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	0	0	1	5